chr18 41564283 41565167 BGMUT_391 + L36121.1(SLC14A1):c.1_341del chr9 133161204 133161205 BGMUT_764 - AF134412.1(ABO):c.[..467C>T..] chr9 133160610 133160611 BGMUT_764 - AF134412.1(ABO):c.[..1061delC..] chr9 133166693 133166694 BGMUT_764 - AF134412.1(ABO):c.[..98+362C>T..] chr9 133166686 133166687 BGMUT_764 - AF134412.1(ABO):c.[..98+369C>G..] chr9 133166659 133166660 BGMUT_764 - AF134412.1(ABO):c.[..98+396T>C..] chr9 133166233 133166234 BGMUT_764 - AF134412.1(ABO):c.[..155+41G>A..] chr9 133166075 133166076 BGMUT_764 - AF134412.1(ABO):c.[..155+199C>T..] chr9 133165897 133165898 BGMUT_764 - AF134412.1(ABO):c.[..155+377C>T..] chr9 133165875 133165876 BGMUT_764 - AF134412.1(ABO):c.[..155+399G>A..] chr9 133165305 133165306 BGMUT_764 - AF134412.1(ABO):c.[..155+969T>C..] chr9 133165021 133165022 BGMUT_764 - AF134412.1(ABO):c.[..155+1254C>T..] chr9 133164918 133164919 BGMUT_764 - AF134412.1(ABO):c.[..155+1357C>T..] chr9 133164775 133164776 BGMUT_764 - AF134412.1(ABO):c.[..203+1delG..] chr9 133164748 133164749 BGMUT_764 - AF134412.1(ABO):c.[..203+28G>C..] chr9 133164689 133164690 BGMUT_764 - AF134412.1(ABO):c.[..203+74A>T..] chr9 133164548 133164549 BGMUT_764 - AF134412.1(ABO):c.[..203+215A>G..] chr9 133164547 133164548 BGMUT_764 - AF134412.1(ABO):c.[..203+216A>C..] chr9 133164090 133164091 BGMUT_764 - AF134412.1(ABO):c.[..203+673A>T..] chr9 133164025 133164026 BGMUT_764 - AF134412.1(ABO):c.[..203+738T>G..] chr9 133163296 133163297 BGMUT_764 - AF134412.1(ABO):c.[..203+1467G>A..] chr9 133163267 133163268 BGMUT_764 - AF134412.1(ABO):c.[..203+1496T>C..] chr9 133163252 133163253 BGMUT_764 - AF134412.1(ABO):c.[..203+1511T>G..] chr9 133163139 133163140 BGMUT_764 - AF134412.1(ABO):c.[..203+1623C>CC..] chr19 5782699 5782700 BGMUT_490 - M98825.1(FUT6):c.[..879C>T..] chr19 5782607 5782608 BGMUT_490 - M98825.1(FUT6):c.[..971C>T..] chr19 5782576 5782577 BGMUT_490 - M98825.1(FUT6):c.[..1002C>G..] chr9 133161204 133161205 BGMUT_4 - AF134412.1(ABO):c.467C>T chr9 133161204 133161205 BGMUT_5 - AF134412.1(ABO):c.[..467C>T..] chr9 133161107 133161108 BGMUT_5 - AF134412.1(ABO):c.[..564C>T..] chr9 133162426 133162427 BGMUT_6 - AF134412.1(ABO):c.297A>G chr9 133161204 133161205 BGMUT_7 - AF134412.1(ABO):c.[..467C>T..] chr9 133162186 133162187 BGMUT_7 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162170 133162171 BGMUT_7 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162426 133162427 BGMUT_8 - AF134412.1(ABO):c.[..297A>G..] chr9 133161204 133161205 BGMUT_8 - AF134412.1(ABO):c.[..467C>T..] chr9 133162307 133162308 BGMUT_8 - AF134412.1(ABO):c.[..373+42G>T..] chr9 133162186 133162187 BGMUT_8 - AF134412.1(ABO):c.[..373+163C>t..] chr9 133162170 133162171 BGMUT_8 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162078 133162079 BGMUT_8 - AF134412.1(ABO):c.[..373+271A>G..] chr9 133162069 133162070 BGMUT_8 - AF134412.1(ABO):c.[..373+280C>T..] chr9 133161903 133161904 BGMUT_8 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161563 133161564 BGMUT_8 - AF134412.1(ABO):c.[..373+786A>G..] chr19 5782723 5782724 BGMUT_491 - M98825.1(FUT6):c.[..855G>A..] chr19 5782576 5782577 BGMUT_491 - M98825.1(FUT6):c.[..1002C>G..] chr19 5783515 5783516 BGMUT_482 - M98825.1(FUT6):c.63G>A chr9 133161204 133161205 BGMUT_9 - AF134412.1(ABO):c.[..467C>T..] chr9 133160610 133160611 BGMUT_9 - AF134412.1(ABO):c.[..1061delC..] chr9 133165105 133165106 BGMUT_10 - AF134412.1(ABO):c.155+1170C>T chr9 133160617 133160618 BGMUT_11 - AF134412.1(ABO):c.1054C>T chr9 133160617 133160618 BGMUT_12 - AF134412.1(ABO):c.1054C>G chr9 133162426 133162427 BGMUT_13 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_13 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_13 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_13 - AF134412.1(ABO):c.[..703G>A..] chr9 133160900 133160901 BGMUT_13 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_13 - AF134412.1(ABO):c.[..829G>A..] chr9 133161204 133161205 BGMUT_14 - AF134412.1(ABO):c.[..467C>T..] chr9 133160662 133160663 BGMUT_14 - AF134412.1(ABO):c.[..1009A>G..] chr9 133160610 133160611 BGMUT_15 - AF134412.1(ABO):c.1061delC chr9 133161132 133161133 BGMUT_16 - AF134412.1(ABO):c.539G>C chr9 133161204 133161205 BGMUT_771 - AF134412.1(ABO):c.[..467C>T..] chr9 133161132 133161133 BGMUT_771 - AF134412.1(ABO):c.[..539G>C..] chr9 133161204 133161205 BGMUT_820 - AF134412.1(ABO):c.[..467C>T..] chr9 133161144 133161145 BGMUT_820 - AF134412.1(ABO):c.[..527G>A..] chr9 133160610 133160611 BGMUT_820 - AF134412.1(ABO):c.[..1061delC..] chr9 133162455 133162456 BGMUT_962 - AF134412.1(ABO):c.[..268T>C..] chr9 133161204 133161205 BGMUT_962 - AF134412.1(ABO):c.[..467C>T..] chr9 133162457 133162458 BGMUT_963 - AF134412.1(ABO):c.[..266C>T..] chr9 133161204 133161205 BGMUT_963 - AF134412.1(ABO):c.[..467C>T..] chr19 5783515 5783516 BGMUT_483 - M98825.1(FUT6):c.[..63G>A..] chr19 5783406 5783407 BGMUT_483 - M98825.1(FUT6):c.[..172G>A..] chr19 5783202 5783203 BGMUT_483 - M98825.1(FUT6):c.[..376C>T..] chr9 133160800 133160801 BGMUT_83 - AF134412.1(ABO):c.871G>A chr9 133160842 133160843 BGMUT_84 - AF134412.1(ABO):c.[..829G>A..] chr9 133160610 133160611 BGMUT_84 - AF134412.1(ABO):c.[..1061delC..] chr9 133160833 133160834 BGMUT_85 - AF134412.1(ABO):c.838C>T chr9 133161204 133161205 BGMUT_766 - AF134412.1(ABO):c.[..467C>T..] chr9 133161132 133161133 BGMUT_766 - AF134412.1(ABO):c.[..539G>A..] chr9 133160610 133160611 BGMUT_766 - AF134412.1(ABO):c.[..1061delC..] chr9 133160851 133160852 BGMUT_932 - AF134412.1(ABO):c.820G>A chr9 133161204 133161205 BGMUT_933 - AF134412.1(ABO):c.[..467C>T..] chr9 133160851 133160852 BGMUT_933 - AF134412.1(ABO):c.[..820G>A..] chr9 133161204 133161205 BGMUT_934 - AF134412.1(ABO):c.[..467C>T..] chr9 133160926 133160927 BGMUT_934 - AF134412.1(ABO):c.[..745C>T..] chr19 5783515 5783516 BGMUT_484 - M98825.1(FUT6):c.[..63G>A..] chr19 5783406 5783407 BGMUT_484 - M98825.1(FUT6):c.[..172G>A..] chr19 5783202 5783203 BGMUT_484 - M98825.1(FUT6):c.[..376C>T..] chr19 5783051 5783052 BGMUT_484 - M98825.1(FUT6):c.[..527G>T..] chr22 41413426 41413430 BGMUT_548 - AJ245581.1(A4GALT):c.1026_1029insC chr22 41414346 41414347 BGMUT_542 - AJ245581.1(A4GALT):c.[..109A>G..] chr22 41413552 41413553 BGMUT_542 - AJ245581.1(A4GALT):c.[..903C>G..] chr22 41413468 41413469 BGMUT_542 - AJ245581.1(A4GALT):c.[..987G>A..] chr22 41414165 41414166 BGMUT_528 - AJ245581.1(A4GALT):c.[..290C>T..] chr22 41414346 41414347 BGMUT_528 - AJ245581.1(A4GALT):c.[..109A>G..] chr22 41413468 41413469 BGMUT_528 - AJ245581.1(A4GALT):c.[..987G>A..] chr22 41414346 41414347 BGMUT_799 - AJ245581.1(A4GALT):c.[..109A>G..] chr22 41413468 41413469 BGMUT_799 - AJ245581.1(A4GALT):c.[..987G>A..] chr22 41414346 41414347 BGMUT_800 - AJ245581.1(A4GALT):c.[..109A>G..] chr22 41413468 41413469 BGMUT_800 - AJ245581.1(A4GALT):c.[..987G>A..] chr22 41412758 41412759 BGMUT_800 - AJ245581.1(A4GALT):c.[..1697G>A..] chr22 41414216 41414219 BGMUT_525 - AJ245581.1(A4GALT):c.237_239delCTT chr22 41414212 41414215 BGMUT_526 - AJ245581.1(A4GALT):c.241_243delTTC chr22 41414168 41414169 BGMUT_527 - AJ245581.1(A4GALT):c.287G>A chr22 41414154 41414156 BGMUT_529 - AJ245581.1(A4GALT):c.300_301delG chr22 41413958 41413986 BGMUT_530 - AJ245581.1(A4GALT):c.[..470_497ins..] chr22 41413548 41413549 BGMUT_530 - AJ245581.1(A4GALT):c.[..907G>C..] chr22 41413982 41413983 BGMUT_531 - AJ245581.1(A4GALT):c.473G>A chr22 41413951 41413954 BGMUT_532 - AJ245581.1(A4GALT):c.[..502_504insC..] chr22 41413541 41413542 BGMUT_532 - AJ245581.1(A4GALT):c.[..914C>T..] chr22 41413907 41413908 BGMUT_533 - AJ245581.1(A4GALT):c.548T>A chr22 41413907 41413908 BGMUT_534 - AJ245581.1(A4GALT):c.[..548T>A..] chr22 41413468 41413469 BGMUT_534 - AJ245581.1(A4GALT):c.[..987G>A..] chr22 41413895 41413896 BGMUT_535 - AJ245581.1(A4GALT):c.560G>A chr22 41413799 41413800 BGMUT_536 - AJ245581.1(A4GALT):c.656C>T chr22 41413798 41413799 BGMUT_537 - AJ245581.1(A4GALT):c.657delG chr22 41414386 41414388 BGMUT_524 - AJ245581.1(A4GALT):c.68_69insT chr22 41413722 41413724 BGMUT_538 - AJ245581.1(A4GALT):c.[..732_733insG..] chr22 41413552 41413553 BGMUT_538 - AJ245581.1(A4GALT):c.[..903C>G..] chr22 41413704 41413705 BGMUT_539 - AJ245581.1(A4GALT):c.751C>T chr22 41413703 41413704 BGMUT_540 - AJ245581.1(A4GALT):c.752C>T chr22 41413703 41413704 BGMUT_541 - AJ245581.1(A4GALT):c.[..752C>T..] chr22 41413552 41413553 BGMUT_541 - AJ245581.1(A4GALT):c.[..903C>G..] chr22 41413686 41413687 BGMUT_545 - AJ245581.1(A4GALT):c.[..769delG..] chr22 41413552 41413553 BGMUT_545 - AJ245581.1(A4GALT):c.[..903C>G..] chr22 41413672 41413673 BGMUT_546 - AJ245581.1(A4GALT):c.783G>A chr22 41413553 41413556 BGMUT_547 - AJ245581.1(A4GALT):c.900_902delC chr22 41413458 41413484 BGMUT_543 - AJ245581.1(A4GALT):c.972_997del chr22 41413458 41413484 BGMUT_544 - AJ245581.1(A4GALT):c.[..972_997del..] chr22 41414346 41414347 BGMUT_544 - AJ245581.1(A4GALT):c.[..109A>G..] chr22 41413552 41413553 BGMUT_544 - AJ245581.1(A4GALT):c.[..903C>G..] chr19 5782849 5782850 BGMUT_485 - M98825.1(FUT6):c.729T>C chr19 5782840 5782841 BGMUT_486 - M98825.1(FUT6):c.[..738C>T..] chr19 5782601 5782602 BGMUT_486 - M98825.1(FUT6):c.[..977G>A..] chr19 5782576 5782577 BGMUT_487 - M98825.1(FUT6):c.1002C>G chr19 5783208 5783209 BGMUT_488 - M98825.1(FUT6):c.[..370C>T..] chr19 5782576 5782577 BGMUT_488 - M98825.1(FUT6):c.[..1002C>G..] chr19 5783208 5783209 BGMUT_489 - M98825.1(FUT6):c.[..370C>T..] chr19 5782671 5782672 BGMUT_489 - M98825.1(FUT6):c.[..907C>G..] chr19 5782576 5782577 BGMUT_489 - M98825.1(FUT6):c.[..1002C>G..] chr9 133160866 133160868 BGMUT_103 - AF134412.1(ABO):c.804_805insG chr9 133161204 133161205 BGMUT_104 - AF134412.1(ABO):c.[..467C>T..] chr9 133161025 133161026 BGMUT_104 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_104 - AF134412.1(ABO):c.[..681G>A..] chr9 133160867 133160868 BGMUT_105 - AF134412.1(ABO):c.804delG chr9 133162344 133162345 BGMUT_106 - AF134412.1(ABO):c.373+5G>A chr9 133161204 133161205 BGMUT_107 - AF134412.1(ABO):c.[..467C>T..] chr9 133160904 133160905 BGMUT_107 - AF134412.1(ABO):c.[..767T>C..] chr9 133161246 133161247 BGMUT_786 - AF134412.1(ABO):c.[..425T>C..] chr9 133161204 133161205 BGMUT_786 - AF134412.1(ABO):c.[..467C>T..] chr9 133161204 133161205 BGMUT_837 - AF134412.1(ABO):c.[..467C>T..] chr9 133160990 133160991 BGMUT_837 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_837 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_837 - AF134412.1(ABO):c.[..829G>A..] chr9 133161204 133161205 BGMUT_108 - AF134412.1(ABO):c.[..467C>T..] chr9 133160910 133160911 BGMUT_108 - AF134412.1(ABO):c.[..761C>T..] chr9 133161007 133161008 BGMUT_109 - AF134412.1(ABO):c.664G>A chr2 127164077 127164078 BGMUT_269 + M36284.1(GYPC):c.67G>T chr7 30724897 30724898 BGMUT_143 + M77829.1(AQP1):c.134C>T chr7 30724764 30725148 BGMUT_144 + M77829.1(AQP1):c.1_384del chr7 30725070 30725072 BGMUT_145 + M77829.1(AQP1):c.307_308insT chr7 30724876 30724877 BGMUT_146 + M77829.1(AQP1):c.113C>T chr7 30735444 30735445 BGMUT_147 + M77829.1(AQP1):c.576C>A chr7 30724995 30724996 BGMUT_148 + M77829.1(AQP1):c.232delG chr7 30724903 30724904 BGMUT_149 + M77829.1(AQP1):c.140A>G chr9 33432297 33432298 BGMUT_272 - AB001325.1(AQP3):c.710+1G>A chr19 50014583 50014584 BGMUT_499 + X83425.1(LU):c.1615G>A chr9 133161264 133161265 BGMUT_94 - AF134412.1(ABO):c.[..407C>T..] chr9 133161204 133161205 BGMUT_94 - AF134412.1(ABO):c.[..467C>T..] chr9 133160610 133160611 BGMUT_94 - AF134412.1(ABO):c.[..1061delC..] chr9 133162373 133162374 BGMUT_95 - AF134412.1(ABO):c.[..350G>C..] chr9 133161204 133161205 BGMUT_95 - AF134412.1(ABO):c.[..467C>T..] chr9 133160610 133160611 BGMUT_95 - AF134412.1(ABO):c.[..1061delC..] chr9 133164776 133164777 BGMUT_96 - AF134412.1(ABO):c.[..203G>C..] chr9 133161204 133161205 BGMUT_96 - AF134412.1(ABO):c.[..467C>T..] chr9 133160610 133160611 BGMUT_96 - AF134412.1(ABO):c.[..1061delC..] chr9 133160950 133160951 BGMUT_97 - AF134412.1(ABO):c.721C>T chr9 133160706 133160707 BGMUT_98 - AF134412.1(ABO):c.965A>G chr9 133161169 133161170 BGMUT_99 - AF134412.1(ABO):c.502C>G chr9 133161204 133161205 BGMUT_100 - AF134412.1(ABO):c.[..467C>T..] chr9 133161079 133161080 BGMUT_100 - AF134412.1(ABO):c.[..592C>T..] chr9 133160610 133160611 BGMUT_100 - AF134412.1(ABO):c.[..1061delC..] chr9 133165105 133165106 BGMUT_100 - AF134412.1(ABO):c.[..155+1170C>T..] chr9 133163059 133163060 BGMUT_101 - AF134412.1(ABO):c.[..220C>T..] chr9 133162426 133162427 BGMUT_101 - AF134412.1(ABO):c.[..297A>G..] chr9 133161183 133161184 BGMUT_101 - AF134412.1(ABO):c.[..488C>T..] chr9 133161145 133161146 BGMUT_101 - AF134412.1(ABO):c.[..526C>G..] chr9 133160869 133160870 BGMUT_101 - AF134412.1(ABO):c.[..802G>A..] chr9 133166927 133166929 BGMUT_101 - AF134412.1(ABO):c.[..98+127_98+128insA..] chr9 133166693 133166694 BGMUT_101 - AF134412.1(ABO):c.[..98+362C>T..] chr9 133166686 133166687 BGMUT_101 - AF134412.1(ABO):c.[..98+369C>G..] chr9 133166659 133166660 BGMUT_101 - AF134412.1(ABO):c.[..98+396T>C..] chr9 133166618 133166619 BGMUT_101 - AF134412.1(ABO):c.[..98+437C>T..] chr9 133166516 133166517 BGMUT_101 - AF134412.1(ABO):c.[..98+539C>A..] chr9 133165180 133165181 BGMUT_101 - AF134412.1(ABO):c.[..155+1095delC..] chr9 133165179 133165180 BGMUT_101 - AF134412.1(ABO):c.[..155+1096delA..] chr9 133164388 133164389 BGMUT_101 - AF134412.1(ABO):c.[..203+375C>T..] chr9 133163296 133163297 BGMUT_101 - AF134412.1(ABO):c.[..203+1467G>A..] chr9 133163267 133163268 BGMUT_101 - AF134412.1(ABO):c.[..203+1496T>C..] chr9 133163252 133163253 BGMUT_101 - AF134412.1(ABO):c.[..203+1511T>G..] chr9 133163138 133163140 BGMUT_101 - AF134412.1(ABO):c.[..203+1623_203+1624insC..] chr9 133162949 133162950 BGMUT_101 - AF134412.1(ABO):c.[..239+91T>C..] chr9 133162933 133162935 BGMUT_101 - AF134412.1(ABO):c.[..239+103_239+104insCCC..] chr9 133162771 133162772 BGMUT_101 - AF134412.1(ABO):c.[..239+266G>A..] chr9 133162307 133162308 BGMUT_101 - AF134412.1(ABO):c.[..373+42G>T..] chr9 133162186 133162187 BGMUT_101 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162170 133162171 BGMUT_101 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162078 133162079 BGMUT_101 - AF134412.1(ABO):c.[..373+271A>G..] chr9 133162069 133162070 BGMUT_101 - AF134412.1(ABO):c.[..373+280C>T..] chr9 133161903 133161904 BGMUT_101 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161721 133161722 BGMUT_101 - AF134412.1(ABO):c.[..373+628A>G..] chr9 133161563 133161564 BGMUT_101 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_101 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161448 133161449 BGMUT_101 - AF134412.1(ABO):c.[..373+901G>A..] chr9 133161399 133161400 BGMUT_101 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133160887 133160888 BGMUT_778 - AF134412.1(ABO gene):c.784G>A chr9 133161148 133161149 BGMUT_810 - AF134412.1(ABO):c.[..523G>A..] chr9 133160950 133160951 BGMUT_810 - AF134412.1(ABO):c.[..721C>T..] chr9 133161204 133161205 BGMUT_825 - AF134412.1(ABO):c.[..467C>T..] chr9 133161115 133161116 BGMUT_825 - AF134412.1(ABO):c.[..556A>G..] chr9 133180157 133180158 BGMUT_828 - AF134412.1(ABO):c.2T>C chr9 133161204 133161205 BGMUT_911 - AF134412.1(ABO):c.[..467C>T..] chr9 133160972 133160973 BGMUT_911 - AF134412.1(ABO):c.[..699C>A..] chr9 133161025 133161026 BGMUT_86 - AF134412.1(ABO):c.646T>A chr9 133162426 133162427 BGMUT_87 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_87 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_87 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_87 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_87 - AF134412.1(ABO):c.[..829G>A..] chr9 133161025 133161026 BGMUT_88 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_88 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_88 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_88 - AF134412.1(ABO):c.[..829G>A..] chr9 133161025 133161026 BGMUT_89 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_89 - AF134412.1(ABO):c.[..681G>A..] chr9 133160675 133160676 BGMUT_92 - AF134412.1(ABO):c.996G>A chr9 133161025 133161026 BGMUT_93 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_93 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_93 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_93 - AF134412.1(ABO):c.[..829G>A..] chr9 133162260 133162261 BGMUT_93 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_93 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_93 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_93 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_93 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_93 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_93 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161563 133161564 BGMUT_93 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_93 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_93 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_93 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_93 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133161204 133161205 BGMUT_797 - AF134412.1(ABO):c.[..467C>T..] chr9 133161128 133161129 BGMUT_797 - AF134412.1(ABO):c.[..543G>T..] chr9 133161204 133161205 BGMUT_818 - AF134412.1(ABO):c.[..467C>T..] chr9 133160842 133160843 BGMUT_818 - AF134412.1(ABO):c.[..829G>A..] chr9 133160662 133160663 BGMUT_818 - AF134412.1(ABO):c.[..1009A>G..] chr9 133161204 133161205 BGMUT_935 - AF134412.1(ABO):c.[..467C>T..] chr9 133160811 133160812 BGMUT_935 - AF134412.1(ABO):c.[..860C>T..] chr9 133162426 133162427 BGMUT_118 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_118 - AF134412.1(ABO):c.[..526C>G..] chr9 133160875 133160876 BGMUT_118 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_118 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_118 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_119 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_119 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_119 - AF134412.1(ABO):c.[..657C>T..] chr9 133160971 133160972 BGMUT_119 - AF134412.1(ABO):c.[..700C>G..] chr9 133160968 133160969 BGMUT_119 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_119 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_119 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_119 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_120 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_120 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_120 - AF134412.1(ABO):c.[..657C>T..] chr9 133160875 133160876 BGMUT_120 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_120 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_120 - AF134412.1(ABO):c.[..930G>A..] chr9 133165416 133165417 BGMUT_120 - AF134412.1(ABO):c.[..155+858C>A..] chr9 133162307 133162308 BGMUT_120 - AF134412.1(ABO):c.[..373+42G>T..] chr9 133162186 133162187 BGMUT_120 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162170 133162171 BGMUT_120 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162078 133162079 BGMUT_120 - AF134412.1(ABO):c.[..373+271A>G..] chr9 133162069 133162070 BGMUT_120 - AF134412.1(ABO):c.[..373+280C>T..] chr9 133161903 133161904 BGMUT_120 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161721 133161722 BGMUT_120 - AF134412.1(ABO):c.[..373+628A>G..] chr9 133161563 133161564 BGMUT_120 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_120 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161448 133161449 BGMUT_120 - AF134412.1(ABO):c.[..373+901G>A..] chr9 133161399 133161400 BGMUT_120 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133162426 133162427 BGMUT_794 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_794 - AF134412.1(ABO):c.[..526C>G..] chr9 133161031 133161032 BGMUT_794 - AF134412.1(ABO):c.[..640A>G..] chr9 133161014 133161015 BGMUT_794 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_794 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_794 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_794 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_794 - AF134412.1(ABO):c.[..930G>A..] chr9 133160575 133160576 BGMUT_794 - AF134412.1(ABO):c.[..1096G>A..] chr9 133162426 133162427 BGMUT_795 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_795 - AF134412.1(ABO):c.[..526C>G..] chr9 133161030 133161031 BGMUT_795 - AF134412.1(ABO):c.[..641T>C..] chr9 133161014 133161015 BGMUT_795 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_795 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_795 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_795 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_795 - AF134412.1(ABO):c.[..930G>A..] chr9 133160575 133160576 BGMUT_795 - AF134412.1(ABO):c.[..1096G>A..] chr9 133162426 133162427 BGMUT_876 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_876 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_876 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_876 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_876 - AF134412.1(ABO):c.[..796C>A..] chr9 133160741 133160742 BGMUT_876 - AF134412.1(ABO):c.[..930G>A..] chr19 5783208 5783209 BGMUT_492 - M98825.1(FUT6):c.[..370C>T..] chr19 5782839 5782840 BGMUT_492 - M98825.1(FUT6):c.[..739G>A..] chr19 5782576 5782577 BGMUT_492 - M98825.1(FUT6):c.[..1002C>G..] chr9 133162426 133162427 BGMUT_17 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_17 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_17 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_17 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_17 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_17 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_17 - AF134412.1(ABO):c.[..930G>A..] chr9 133162507 133162508 BGMUT_18 - AF134412.1(ABO):c.[..239+530A>G..] chr9 133162307 133162308 BGMUT_18 - AF134412.1(ABO):c.[..373+42G>T..] chr9 133162305 133162306 BGMUT_18 - AF134412.1(ABO):c.[..373+44G>A..] chr9 133162186 133162187 BGMUT_18 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162170 133162171 BGMUT_18 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162078 133162079 BGMUT_18 - AF134412.1(ABO):c.[..373+271A>G..] chr9 133162069 133162070 BGMUT_18 - AF134412.1(ABO):c.[..373+280C>T..] chr9 133161903 133161904 BGMUT_18 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161721 133161722 BGMUT_18 - AF134412.1(ABO):c.[..373+628A>G..] chr9 133161563 133161564 BGMUT_18 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_18 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161448 133161449 BGMUT_18 - AF134412.1(ABO):c.[..373+901G>A..] chr9 133161399 133161400 BGMUT_18 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133162426 133162427 BGMUT_19 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_19 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_19 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_19 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_19 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_19 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_19 - AF134412.1(ABO):c.[..930G>A..] chr9 133162307 133162308 BGMUT_19 - AF134412.1(ABO):c.[..373+42G>T..] chr9 133162305 133162306 BGMUT_19 - AF134412.1(ABO):c.[..373+44G>A..] chr9 133162186 133162187 BGMUT_19 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162170 133162171 BGMUT_19 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162078 133162079 BGMUT_19 - AF134412.1(ABO):c.[..373+271A>G..] chr9 133162069 133162070 BGMUT_19 - AF134412.1(ABO):c.[..373+280C>T..] chr9 133161903 133161904 BGMUT_19 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161721 133161722 BGMUT_19 - AF134412.1(ABO):c.[..373+628A>G..] chr9 133161563 133161564 BGMUT_19 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_19 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161448 133161449 BGMUT_19 - AF134412.1(ABO):c.[..373+901G>A..] chr9 133161399 133161400 BGMUT_19 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133162426 133162427 BGMUT_20 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_20 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_20 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_20 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_20 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_20 - AF134412.1(ABO):c.[..803G>C..] chr9 133162426 133162427 BGMUT_21 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_21 - AF134412.1(ABO):c.[..526C>G..] chr9 133160968 133160969 BGMUT_21 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_21 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_21 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_21 - AF134412.1(ABO):c.[..930G>A..] chr9 133161145 133161146 BGMUT_22 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_22 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_22 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_22 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_22 - AF134412.1(ABO):c.[..803G>C..] chr9 133161903 133161904 BGMUT_22 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161721 133161722 BGMUT_22 - AF134412.1(ABO):c.[..373+628A>G..] chr9 133161563 133161564 BGMUT_22 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_22 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161448 133161449 BGMUT_22 - AF134412.1(ABO):c.[..373+901G>A..] chr9 133161399 133161400 BGMUT_22 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133162426 133162427 BGMUT_821 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_821 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_821 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_821 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_821 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_821 - AF134412.1(ABO):c.[..803G>A..] chr9 133160779 133160780 BGMUT_821 - AF134412.1(ABO):c.[..892G>T..] chr9 133160741 133160742 BGMUT_821 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_822 - AF134412.1(ABO):c.[..297A>G..] chr9 133161173 133161174 BGMUT_822 - AF134412.1(ABO):c.[..498C>T..] chr9 133161145 133161146 BGMUT_822 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_822 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_822 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_822 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_822 - AF134412.1(ABO):c.[..803G>A..] chr9 133160741 133160742 BGMUT_822 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_823 - AF134412.1(ABO):c.[..297A>G..] chr9 133161148 133161149 BGMUT_823 - AF134412.1(ABO):c.[..523G>A..] chr9 133161145 133161146 BGMUT_823 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_823 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_823 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_823 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_823 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_823 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_824 - AF134412.1(ABO):c.[..297A>G..] chr9 133162417 133162418 BGMUT_824 - AF134412.1(ABO):c.[..306C>T..] chr9 133161145 133161146 BGMUT_824 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_824 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_824 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_824 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_824 - AF134412.1(ABO):c.[..803G>A..] chr9 133160741 133160742 BGMUT_824 - AF134412.1(ABO):c.[..930G>A..] chr19 5783208 5783209 BGMUT_493 - M98825.1(FUT6):c.[..370C>T..] chr19 5782839 5782840 BGMUT_493 - M98825.1(FUT6):c.[..739G>A..] chr19 5782633 5782634 BGMUT_493 - M98825.1(FUT6):c.[..945C>A..] chr19 5782576 5782577 BGMUT_493 - M98825.1(FUT6):c.[..1002C>G..] chr19 5783560 5783561 BGMUT_494 - M98825.1(FUT6):c.[..18G>A..] chr19 5783242 5783243 BGMUT_494 - M98825.1(FUT6):c.[..336C>A..] chr19 5783077 5783080 BGMUT_494 - M98825.1(FUT6):c.[..499_501insC..] chr19 5782723 5782724 BGMUT_494 - M98825.1(FUT6):c.[..855G>A..] chr19 5782576 5782577 BGMUT_494 - M98825.1(FUT6):c.[..1002C>G..] chr9 133162426 133162427 BGMUT_114 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_114 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_114 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_114 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_114 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_114 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_114 - AF134412.1(ABO):c.[..930G>A..] chr9 133160617 133160618 BGMUT_114 - AF134412.1(ABO):c.[..1054C>T..] chr9 133162426 133162427 BGMUT_115 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_115 - AF134412.1(ABO):c.[..526C>G..] chr9 133161025 133161026 BGMUT_115 - AF134412.1(ABO):c.[..646T>A..] chr9 133160968 133160969 BGMUT_115 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_115 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_115 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_115 - AF134412.1(ABO):c.[..930G>A..] chr9 133162475 133162476 BGMUT_117 - AF134412.1(ABO):c.[..247G>T..] chr9 133162426 133162427 BGMUT_117 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_117 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_117 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_117 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_117 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_117 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_117 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_840 - AF134412.1(ABO):c.[..297A>G..] chr9 133161246 133161247 BGMUT_840 - AF134412.1(ABO):c.[..425T>C..] chr9 133161145 133161146 BGMUT_840 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_840 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_840 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_840 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_840 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_840 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_842 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_842 - AF134412.1(ABO):c.[..526C>G..] chr9 133161124 133161125 BGMUT_842 - AF134412.1(ABO):c.[..547G>A..] chr9 133161014 133161015 BGMUT_842 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_842 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_842 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_842 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_842 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_964 - AF134412.1(ABO):c.[..297A>G..] chr9 133161261 133161262 BGMUT_964 - AF134412.1(ABO):c.[..410C>T..] chr9 133161145 133161146 BGMUT_964 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_964 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_964 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_964 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_964 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_964 - AF134412.1(ABO):c.[..930G>A..] chr3 162287042 162287043 BGMUT_552 - AB050855.1(B3GALT3):c.202C>T chr3 162286951 162286953 BGMUT_553 - AB050855.1(B3GALT3):c.292_293insA chr3 162286811 162286812 BGMUT_554 - AB050855.1(B3GALT3):c.433C>T chr3 162286706 162286708 BGMUT_555 - AB050855.1(B3GALT3):c.537_538insA chr3 162286596 162286597 BGMUT_556 - AB050855.1(B3GALT3):c.648A>C chr3 162286447 162286448 BGMUT_557 - AB050855.1(B3GALT3):c.797A>C chr3 162286433 162286434 BGMUT_558 - AB050855.1(B3GALT3):c.811G>A chr3 162286285 162286286 BGMUT_559 - AB050855.1(B3GALT3):c.959G>A chr19 5783560 5783561 BGMUT_495 - M98825.1(FUT6):c.[..18G>A..] chr19 5783242 5783243 BGMUT_495 - M98825.1(FUT6):c.[..336C>A..] chr19 5783077 5783080 BGMUT_495 - M98825.1(FUT6):c.[..499_501insC..] chr19 5782723 5782724 BGMUT_495 - M98825.1(FUT6):c.[..855G>A..] chr19 5782601 5782602 BGMUT_495 - M98825.1(FUT6):c.[..977G>A..] chr19 5782576 5782577 BGMUT_495 - M98825.1(FUT6):c.[..1002C>G..] chr9 133162426 133162427 BGMUT_122 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_122 - AF134412.1(ABO):c.[..526C>G..] chr9 133161030 133161031 BGMUT_122 - AF134412.1(ABO):c.[..641T>G..] chr9 133161014 133161015 BGMUT_122 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_122 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_122 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_122 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_122 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_123 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_123 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_123 - AF134412.1(ABO):c.[..657C>T..] chr9 133161002 133161003 BGMUT_123 - AF134412.1(ABO):c.[..669G>T..] chr9 133160968 133160969 BGMUT_123 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_123 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_123 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_123 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_124 - AF134412.1(ABO):c.[..297A>G..] chr9 133161169 133161170 BGMUT_124 - AF134412.1(ABO):c.[..502C>T..] chr9 133161145 133161146 BGMUT_124 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_124 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_124 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_124 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_124 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_124 - AF134412.1(ABO):c.[..930G>A..] chr9 133161204 133161205 BGMUT_125 - AF134412.1(ABO):c.[..467C>T..] chr9 133161025 133161026 BGMUT_125 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_125 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_125 - AF134412.1(ABO):c.[..771C>T..] chr9 133160875 133160876 BGMUT_125 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_125 - AF134412.1(ABO):c.[..803G>C..] chr9 133160842 133160843 BGMUT_125 - AF134412.1(ABO):c.[..829G>A..] chr9 133162426 133162427 BGMUT_875 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_875 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_875 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_875 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_875 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_875 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_875 - AF134412.1(ABO):c.[..930G>A..] chr9 133160719 133160720 BGMUT_875 - AF134412.1(ABO):c.[..952G>A..] chr9 133162426 133162427 BGMUT_126 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_126 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_126 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_126 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_126 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_126 - AF134412.1(ABO):c.[..803G>C..] chr9 133160798 133160799 BGMUT_126 - AF134412.1(ABO):c.[..873C>G..] chr9 133160741 133160742 BGMUT_126 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_127 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_127 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_127 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_127 - AF134412.1(ABO):c.[..703G>A..] chr9 133160950 133160951 BGMUT_127 - AF134412.1(ABO):c.[..721C>T..] chr9 133160875 133160876 BGMUT_127 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_127 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_127 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_128 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_128 - AF134412.1(ABO):c.[..526C>G..] chr9 133161123 133161124 BGMUT_128 - AF134412.1(ABO):c.[..548A>G..] chr9 133161014 133161015 BGMUT_128 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_128 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_128 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_128 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_128 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_129 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_129 - AF134412.1(ABO):c.[..526C>G..] chr9 133161132 133161133 BGMUT_129 - AF134412.1(ABO):c.[..539G>A..] chr9 133161014 133161015 BGMUT_129 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_129 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_129 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_129 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_129 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_130 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_130 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_130 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_130 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_130 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_130 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_130 - AF134412.1(ABO):c.[..930G>A..] chr9 133160635 133160636 BGMUT_130 - AF134412.1(ABO):c.[..1036A>G..] chr9 133162426 133162427 BGMUT_131 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_131 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_131 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_131 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_131 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_131 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_131 - AF134412.1(ABO):c.[..930G>A..] chr9 133160616 133160617 BGMUT_131 - AF134412.1(ABO):c.[..1055G>A..] chr9 133162507 133162508 BGMUT_131 - AF134412.1(ABO):c.[..239+530A>G..] chr9 133162307 133162308 BGMUT_131 - AF134412.1(ABO):c.[..373+42G>T..] chr9 133162186 133162187 BGMUT_131 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162170 133162171 BGMUT_131 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162078 133162079 BGMUT_131 - AF134412.1(ABO):c.[..373+271A>G..] chr9 133162069 133162070 BGMUT_131 - AF134412.1(ABO):c.[..373+280C>T..] chr9 133161903 133161904 BGMUT_131 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161721 133161722 BGMUT_131 - AF134412.1(ABO):c.[..373+628A>G..] chr9 133161563 133161564 BGMUT_131 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_131 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161448 133161449 BGMUT_131 - AF134412.1(ABO):c.[..373+901G>A..] chr9 133161399 133161400 BGMUT_131 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133162426 133162427 BGMUT_132 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_132 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_132 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_132 - AF134412.1(ABO):c.[..703G>A..] chr9 133160868 133160869 BGMUT_132 - AF134412.1(ABO):c.[..803G>C..] chr9 133160808 133160809 BGMUT_132 - AF134412.1(ABO):c.[..863T>G..] chr9 133160741 133160742 BGMUT_132 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_133 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_133 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_133 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_133 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_133 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_133 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_133 - AF134412.1(ABO):c.[..930G>A..] chr9 133160634 133160635 BGMUT_133 - AF134412.1(ABO):c.[..1037A>T..] chr9 133162507 133162508 BGMUT_133 - AF134412.1(ABO):c.[..239+530A>G..] chr9 133162307 133162308 BGMUT_133 - AF134412.1(ABO):c.[..373+42G>T..] chr9 133162186 133162187 BGMUT_133 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162170 133162171 BGMUT_133 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162078 133162079 BGMUT_133 - AF134412.1(ABO):c.[..373+271A>G..] chr9 133162069 133162070 BGMUT_133 - AF134412.1(ABO):c.[..373+280C>T..] chr9 133161903 133161904 BGMUT_133 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161721 133161722 BGMUT_133 - AF134412.1(ABO):c.[..373+628A>G..] chr9 133161563 133161564 BGMUT_133 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_133 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161448 133161449 BGMUT_133 - AF134412.1(ABO):c.[..373+901G>A..] chr9 133161399 133161400 BGMUT_133 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133162426 133162427 BGMUT_134 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_134 - AF134412.1(ABO):c.[..526C>G..] chr9 133161115 133161116 BGMUT_134 - AF134412.1(ABO):c.[..556A>G..] chr9 133161014 133161015 BGMUT_134 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_134 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_134 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_134 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_134 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_817 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_817 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_817 - AF134412.1(ABO):c.[..657C>T..] chr9 133160976 133160977 BGMUT_817 - AF134412.1(ABO):c.[..695T>C..] chr9 133160968 133160969 BGMUT_817 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_817 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_817 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_817 - AF134412.1(ABO):c.[..930G>A..] chr9 133162445 133162446 BGMUT_826 - AF134412.1(ABO):c.[..278C>T..] chr9 133162426 133162427 BGMUT_826 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_826 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_826 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_826 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_826 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_826 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_826 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_917 - AF134412.1(ABO):c.[..297A>G..] chr9 133161148 133161149 BGMUT_917 - AF134412.1(ABO):c.[..523G>A..] chr9 133161145 133161146 BGMUT_917 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_917 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_917 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_917 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_917 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_917 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_913 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_913 - AF134412.1(ABO):c.[..526C>G..] chr9 133161106 133161107 BGMUT_913 - AF134412.1(ABO):c.[..565A>G..] chr9 133161014 133161015 BGMUT_913 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_913 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_913 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_913 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_913 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_914 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_914 - AF134412.1(ABO):c.[..526C>G..] chr9 133161096 133161097 BGMUT_914 - AF134412.1(ABO):c.[..575T>C..] chr9 133161014 133161015 BGMUT_914 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_914 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_914 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_914 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_914 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_915 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_915 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_915 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_915 - AF134412.1(ABO):c.[..703G>A..] chr9 133160887 133160888 BGMUT_915 - AF134412.1(ABO):c.[..784G>A..] chr9 133160875 133160876 BGMUT_915 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_915 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_915 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_912 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_912 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_912 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_912 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_912 - AF134412.1(ABO):c.[..796C>A..] chr9 133160869 133160870 BGMUT_912 - AF134412.1(ABO):c.[..802G>A..] chr9 133160868 133160869 BGMUT_912 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_912 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_916 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_916 - AF134412.1(ABO):c.[..526C>G..] chr9 133161025 133161026 BGMUT_916 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_916 - AF134412.1(ABO):c.[..681G>A..] chr9 133160968 133160969 BGMUT_916 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_916 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_916 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_916 - AF134412.1(ABO):c.[..930G>A..] chr9 133162426 133162427 BGMUT_961 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_961 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_961 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_961 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_961 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_961 - AF134412.1(ABO):c.[..803G>C..] chr9 133160854 133160856 BGMUT_961 - AF134412.1(ABO):c.[..816_817insG..] chr9 133162426 133162427 BGMUT_121 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_121 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_121 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_121 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_121 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_121 - AF134412.1(ABO):c.[..803G>C..] chr9 133160800 133160801 BGMUT_121 - AF134412.1(ABO):c.[..871G>A..] chr9 133160741 133160742 BGMUT_121 - AF134412.1(ABO):c.[..930G>A..] chrX 119542701 119542702 BGMUT_790 - AY159319.1(C1GALT1C1):c.[..202C>T..] chrX 119542510 119542511 BGMUT_790 - AY159319.1(C1GALT1C1):c.[..393T>A..] chrX 119542510 119542511 BGMUT_792 - AY159319.1(C1GALT1C1):c.393T>A chrX 119542449 119542450 BGMUT_791 - AY159319.1(C1GALT1C1):c.454G>A chr6 32104274 32104275 BGMUT_136 + K02403.1:g.[..3258A>G..] chr6 32104943 32104944 BGMUT_136 + K02403.1:g.[..3567A>G..] chr6 32105036 32105037 BGMUT_136 + K02403.1:g.[..3660T>C..] chr6 32105045 32105046 BGMUT_136 + K02403.1:g.[..3669T>G..] chr6 32105046 32105047 BGMUT_136 + K02403.1:g.[..3670C>G..] chr6 32104943 32104944 BGMUT_137 + K02403.1:g.3567A>G chr6 32072206 32072207 BGMUT_139 + NM_000592.4:g.3578G>A chr6 32071537 32071538 BGMUT_140 + NM_000592.4:g.3269G>A chr6 32071537 32071538 BGMUT_141 + NM_000592.4:g.[..3269G>A..] chr6 32072299 32072300 BGMUT_141 + NM_000592.4:g.[..3671C>T..] chr6 32072308 32072309 BGMUT_141 + NM_000592.4:g.[..3680G>T..] chr6 32072309 32072310 BGMUT_141 + NM_000592.4:g.[..3681G>C..] chr19 53945828 53945829 BGMUT_282 - M35531.1(FUT1):c.522C>A chr19 53898715 53898716 BGMUT_310 + U17894.1(FUT2):c.658C>T chr19 53946057 53946058 BGMUT_765 - M35531.1(FUT1):c.293C>T chr9 133161204 133161205 BGMUT_110 - AF134412.1(ABO):c.[..467C>T..] chr9 133160868 133160869 BGMUT_110 - AF134412.1(ABO):c.[..803G>C..] chr9 133161145 133161146 BGMUT_111 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_111 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_111 - AF134412.1(ABO):c.[..703G>A..] chr9 133160868 133160869 BGMUT_111 - AF134412.1(ABO):c.[..803G>C..] chr9 133162426 133162427 BGMUT_112 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_112 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_112 - AF134412.1(ABO):c.[..657C>T..] chr9 133160971 133160972 BGMUT_112 - AF134412.1(ABO):c.[..700C>T..] chr9 133160968 133160969 BGMUT_112 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_112 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_112 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_112 - AF134412.1(ABO):c.[..930G>A..] chr9 133161204 133161205 BGMUT_113 - AF134412.1(ABO):c.[..467C>T..] chr9 133160875 133160876 BGMUT_113 - AF134412.1(ABO):c.[..796C>A..] chr9 133162426 133162427 BGMUT_859 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_859 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_859 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_859 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_859 - AF134412.1(ABO):c.[..796C>A..] chr9 133160741 133160742 BGMUT_859 - AF134412.1(ABO):c.[..930G>A..] chr1 204146449 204146450 BGMUT_452 + Y00816.1(CR1):c.4014A>C chr1 204112551 204112552 BGMUT_446 + Y00816.1(CR1):c.1329A>G chr1 204112554 204112556 BGMUT_447 + Y00816.1(CR1):c.1333G>A #insertion in reference# chr1 204067701 204067702 BGMUT_444 + Y00816.1(CR1):c.180G>A chr1 204122691 204122692 BGMUT_448 + Y00816.1(CR1):c.2051T>C chr1 204125706 204125707 BGMUT_449 + Y00816.1(CR1):c.2340T>C chr1 204131650 204131651 BGMUT_450 + Y00816.1(CR1):c.3066G>T chr1 204142015 204142016 BGMUT_451 + Y00816.1(CR1):c.3623A>G chr1 204146580 204146581 BGMUT_453 + Y00816.1(CR1):c.4145G>C chr1 204149167 204149168 BGMUT_454 + Y00816.1(CR1):c.4223C>T chr1 204171101 204171102 BGMUT_884 + Y00816.1(CR1):c.4619A>G chr1 204171163 204171164 BGMUT_431 + Y00816.1(CR1):c.4681G>A chr1 204171250 204171251 BGMUT_433 + Y00816.1(CR1):c.4768A>G chr1 204171283 204171284 BGMUT_435 + Y00816.1(CR1):c.4801A>G chr1 204171310 204171311 BGMUT_437 + Y00816.1(CR1):c.4828T>A chr1 204171325 204171326 BGMUT_455 + Y00816.1(CR1):c.4843A>G chr1 204178399 204178400 BGMUT_456 + Y00816.1(CR1):c.5397A>G chr1 204178482 204178483 BGMUT_457 + Y00816.1(CR1):c.5480C>G chr1 204179818 204179819 BGMUT_458 + Y00816.1(CR1):c.5548C>G chr1 204179897 204179898 BGMUT_459 + Y00816.1(CR1):c.5627C>T chr1 204088559 204088560 BGMUT_445 + Y00816.1(CR1):c.954T>C chr1 204112554 204112556 BGMUT_439 + Y00816.1(CR1):c.[..1333A>G #insertion in reference#..] chr1 204122691 204122692 BGMUT_439 + Y00816.1(CR1):c.[..2051T>C..] chr1 204131650 204131651 BGMUT_439 + Y00816.1(CR1):c.[..3066G>T..] chr1 204142015 204142016 BGMUT_439 + Y00816.1(CR1):c.[..3623A>G..] chr1 204171325 204171326 BGMUT_439 + Y00816.1(CR1):c.[..4843A>G..] chr1 204178482 204178483 BGMUT_439 + Y00816.1(CR1):c.[..5480C>G..] chr1 203892861 203892862 BGMUT_151 + M31516.1(DAF):c.679G>C chr1 203892922 203892923 BGMUT_944 + M31516.1(DAF):c.740A>G chr1 203886477 203886478 BGMUT_943 + M31516.1(DAF):c.466G>A chr1 203884259 203884260 BGMUT_155 + M31516.1(DAF):c.239T>A chr1 203892901 203892902 BGMUT_160 + M31516.1(DAF):c.719G>A chr1 203884281 203884282 BGMUT_156 + M31516.1(DAF):c.261G>A chr1 203884283 203884284 BGMUT_157 + M31516.1(DAF):c.263C>A chr1 203888559 203888560 BGMUT_161 + M31516.1(DAF):c.647C>T chr1 203884175 203884176 BGMUT_152 + M31516.1(DAF):c.155G>T chr1 203884175 203884176 BGMUT_153 + M31516.1(DAF):c.155G>C chr1 203892931 203892932 BGMUT_159 + M31516.1(DAF):c.749C>T chr1 203884265 203884266 BGMUT_158 + M31516.1(DAF):c.245T>G chr1 203892908 203892909 BGMUT_162 + M31516.1(DAF):c.726T>G chr2 127130108 127130109 BGMUT_270 + M36284.1(GYPC):c.40C>T chr12 14885313 14885314 BGMUT_942 - AF290204.1(DO):c.[..185T>C..] chr12 14885120 14885121 BGMUT_942 - AF290204.1(DO):c.[..378C>T..] chr12 14884874 14884875 BGMUT_942 - AF290204.1(DO):c.[..624T>C..] chr12 14884705 14884706 BGMUT_942 - AF290204.1(DO):c.[..793A>G..] chr12 14885148 14885156 BGMUT_170 - AF290204.1(DO):c.343_350del chr12 14885355 14885356 BGMUT_167 - AF290204.1(DO):c.145-2A>G chr12 14887168 14887169 BGMUT_168 - AF290204.1(DO):c.144+2T>C chr12 14885056 14885057 BGMUT_169 - AF290204.1(DO):c.442C>T chr12 14885175 14885176 BGMUT_165 - AF290204.1(DO):c.[..323G>T..] chr12 14885120 14885121 BGMUT_165 - AF290204.1(DO):c.[..378C>T..] chr12 14885175 14885176 BGMUT_171 - AF290204.1(DO):c.[..323G>T..] chr12 14884874 14884875 BGMUT_171 - AF290204.1(DO):c.[..624T>C..] chr12 14884705 14884706 BGMUT_171 - AF290204.1(DO):c.[..793A>G..] chr12 14873618 14873619 BGMUT_171 - AF290204.1(DO):c.[..898C>G..] chr12 14885175 14885176 BGMUT_172 - AF290204.1(DO):c.[..323G>T..] chr12 14884874 14884875 BGMUT_172 - AF290204.1(DO):c.[..624T>C..] chr12 14884705 14884706 BGMUT_172 - AF290204.1(DO):c.[..793A>G..] chr12 14885148 14885149 BGMUT_166 - AF290204.1(DO):c.[..350C>T..] chr12 14885120 14885121 BGMUT_166 - AF290204.1(DO):c.[..378C>T..] chr12 14885120 14885121 BGMUT_164 - AF290204.1(DO):c.[..378C>T..] chr12 14884874 14884875 BGMUT_164 - AF290204.1(DO):c.[..624T>C..] chr12 14884705 14884706 BGMUT_164 - AF290204.1(DO):c.[..793A>G..] chr12 14885120 14885121 BGMUT_845 - AF290204.1(DO):c.[..378C>T..] chr12 14884874 14884875 BGMUT_845 - AF290204.1(DO):c.[..624T>C..] chr12 14884705 14884706 BGMUT_845 - AF290204.1(DO):c.[..793A>G..] chr12 14873618 14873619 BGMUT_845 - AF290204.1(DO):c.[..898C>G..] chr19 53945889 53945890 BGMUT_278 - M35531.1(FUT1):c.461A>G chr19 53945837 53945838 BGMUT_281 - M35531.1(FUT1):c.513G>C chr19 53945574 53945575 BGMUT_288 - M35531.1(FUT1):c.776T>A chr19 53945565 53945566 BGMUT_289 - M35531.1(FUT1):c.[..785G>A..] chr19 53945564 53945565 BGMUT_289 - M35531.1(FUT1):c.[..786C>A..] chr19 53945406 53945407 BGMUT_297 - M35531.1(FUT1):c.944C>T chr19 53945303 53945304 BGMUT_300 - M35531.1(FUT1):c.1047G>C chr19 53946022 53946023 BGMUT_802 - M35531.1(FUT1):c.328G>A chr19 53946315 53946316 BGMUT_805 - M35531.1(FUT1):c.35C>T chr19 53946315 53946316 BGMUT_872 - M35531.1(FUT1):c.[..35C>T..] chr19 53946081 53946082 BGMUT_872 - M35531.1(FUT1):c.[..269G>T..] chr19 53945928 53945929 BGMUT_874 - M35531.1(FUT1):c.422G>A chr19 53945859 53945860 BGMUT_280 - M35531.1(FUT1):c.491T>A chr19 53945812 53945813 BGMUT_865 - M35531.1(FUT1):c.[..538C>T..] chr19 53945261 53945262 BGMUT_865 - M35531.1(FUT1):c.[..1089T>G..] chr19 53945764 53945765 BGMUT_803 - M35531.1(FUT1):c.586C>T chr19 53945689 53945690 BGMUT_847 - M35531.1(FUT1):c.661C>T chr19 53945668 53945669 BGMUT_772 - M35531.1(FUT1):c.682A>G chr19 53945661 53945662 BGMUT_866 - M35531.1(FUT1):c.689A>C chr19 53945549 53945550 BGMUT_290 - M35531.1(FUT1):c.801G>C chr19 53945549 53945550 BGMUT_291 - M35531.1(FUT1):c.801G>T chr19 53945524 53945525 BGMUT_292 - M35531.1(FUT1):c.826C>T chr19 53945518 53945519 BGMUT_293 - M35531.1(FUT1):c.832G>A chr19 53945433 53945434 BGMUT_871 - M35531.1(FUT1):c.917C>T chr19 53898228 53898229 BGMUT_949 + U17894.1(FUT2):c.[..171A>G..] chr19 53898273 53898274 BGMUT_949 + U17894.1(FUT2):c.[..216C>T..] chr19 53898485 53898486 BGMUT_949 + U17894.1(FUT2):c.[..428G>A..] chr19 53898629 53898630 BGMUT_949 + U17894.1(FUT2):c.[..572G>A..] chr19 53898796 53898797 BGMUT_949 + U17894.1(FUT2):c.[..739G>A..] chr19 53899017 53899018 BGMUT_949 + U17894.1(FUT2):c.[..960A>G..] chr19 53899066 53899067 BGMUT_949 + U17894.1(FUT2):c.[..1009A>G..] chr19 53899068 53899069 BGMUT_949 + U17894.1(FUT2):c.[..1011T>C..] chr19 53898267 53898268 BGMUT_945 + U17894.1(FUT2):c.[..210A>G..] chr19 53898414 53898415 BGMUT_945 + U17894.1(FUT2):c.[..357C>T..] chr19 53898335 53898336 BGMUT_873 + U17894.1(FUT2):c.[..278C>T..] chr19 53898414 53898415 BGMUT_873 + U17894.1(FUT2):c.[..357C>T..] chr19 53898414 53898415 BGMUT_946 + U17894.1(FUT2):c.[..357C>T..] chr19 53898437 53898438 BGMUT_946 + U17894.1(FUT2):c.[..380G>A..] chr19 53898442 53898443 BGMUT_946 + U17894.1(FUT2):c.[..385A>T..] chr19 53898414 53898415 BGMUT_801 + U17894.1(FUT2):c.[..357C>T..] chr19 53898773 53898774 BGMUT_801 + U17894.1(FUT2):c.[..716G>A..] chr19 53898414 53898415 BGMUT_950 + U17894.1(FUT2):c.[..357C>T..] chr19 53898805 53898808 BGMUT_950 + U17894.1(FUT2):c.[..748_750insGTG..] chr19 53898414 53898415 BGMUT_948 + U17894.1(FUT2):c.[..357C>T..] chr19 53898912 53898913 BGMUT_948 + U17894.1(FUT2):c.[..855A>C..] chr19 53898910 53898911 BGMUT_947 + U17894.1(FUT2):c.853G>A chr9 137201698 137201699 BGMUT_497 - U11282.1(FUT7):c.329G>A chr1 155988420 155988421 BGMUT_251 + U01839.1(DARC):c.125A>G chr1 155988576 155988591 BGMUT_257 + U01839.1(DARC):c.281_295del chr1 155988709 155988710 BGMUT_261 + U01839.1(DARC):c.414G>A chr1 155988588 155988589 BGMUT_258 + U01839.1(DARC):c.293G>A chr1 155988708 155988709 BGMUT_259 + U01839.1(DARC):c.413G>A chr1 155988593 155988594 BGMUT_254 + U01839.1(DARC):c.298G>A chr1 155988560 155988561 BGMUT_255 + U01839.1(DARC):c.[..265C>T..] chr1 155988593 155988594 BGMUT_255 + U01839.1(DARC):c.[..298G>A..] chr1 155988440 155988441 BGMUT_256 + U01839.1(DARC):c.[..145G>T..] chr1 155988560 155988561 BGMUT_256 + U01839.1(DARC):c.[..265C>T..] chr1 155988593 155988594 BGMUT_256 + U01839.1(DARC):c.[..298G>A..] chr1 155988263 155988264 BGMUT_253 + U01839.1(DARC):c.-33T>C chr1 155988708 155988709 BGMUT_260 + U01839.1(DARC):c.413G>A chr2 127164105 127164106 BGMUT_841 + M36284.1(GYPC):c.95C>A chr4 145398443 145398444 BGMUT_337 - L31860.1(GYPA):c.232G>A chr4 145397492 145397493 BGMUT_338 - L31860.1(GYPA):c.250G>C chr4 145278182 145278183 BGMUT_359 - J02982.1(GYPB):c.161G>A chr4 145398478 145398479 BGMUT_373 - L31860.1(GYPA):c.197C>A chr4 145398445 145398446 BGMUT_361 - L31860.1(GYPA):c.230C>T chr4 145399324 145399325 BGMUT_332 - L31860.1(GYPA):c.[..59C>T..] chr4 145399312 145399313 BGMUT_332 - L31860.1(GYPA):c.[..71G>A..] chr4 145399311 145399312 BGMUT_332 - L31860.1(GYPA):c.[..72T>G..] chr4 145398537 145398538 BGMUT_363 - L31860.1(GYPA):c.138T>A chr4 145398458 145398459 BGMUT_364 - L31860.1(GYPA):c.217C>T chr4 145280013 145280014 BGMUT_362 - J02982.1(GYPB):c.65C>G chr4 145278200 145278201 BGMUT_334 - J02982.1(GYPB):c.143C>T chr4 145278170 145278171 BGMUT_365 - J02982.1(GYPB):c.173C>G chr2 127164060 127164117 BGMUT_263 + M36284.1(GYPC):c.50_106del chr2 127167669 127167753 BGMUT_264 + M36284.1(GYPC):c.107_190del chr19 53945655 53945656 BGMUT_285 - M35531.1(FUT1):c.695G>A chr19 53945803 53945804 BGMUT_283 - M35531.1(FUT1):c.547delAG chr19 53945360 53945361 BGMUT_299 - M35531.1(FUT1):c.990delG chr19 53945470 53945471 BGMUT_294 - M35531.1(FUT1):c.880delTT chr19 53945629 53945630 BGMUT_286 - M35531.1(FUT1):c.721T>C chr19 53945692 53945693 BGMUT_284 - M35531.1(FUT1):c.658C>T chr19 53945908 53945909 BGMUT_275 - M35531.1(FUT1):c.442G>T chr19 53945890 53945891 BGMUT_276 - M35531.1(FUT1):c.[..460T>C..] chr19 53945308 53945309 BGMUT_276 - M35531.1(FUT1):c.[..1042G>A..] chr19 53945890 53945891 BGMUT_277 - M35531.1(FUT1):c.460T>C chr19 53945828 53945829 BGMUT_295 - M35531.1(FUT1):c.522C>A chr19 53945888 53945889 BGMUT_279 - M35531.1(FUT1):c.462C>A chr19 53945444 53945447 BGMUT_296 - M35531.1(FUT1):c.904_906insAAC chr6 10734665 10734666 BGMUT_379 + NM_001491.2(IGnT):c.1043G>A chr6 10734770 10734771 BGMUT_380 + NM_001491.2(IGnT):c.1148G>A chr6 10694450 10694451 BGMUT_864 + AF458026.1(IGnT C):c.243T>A chr6 10729627 10729628 BGMUT_382 + NM_001491.2(IGnT):c.978G>A chr6 10694712 10694713 BGMUT_375 + AF458026.1(IGnT C):c.505G>A chr6 10694890 10694891 BGMUT_376 + AF458026.1(IGnT C):c.683G>A chr6 10695023 10695024 BGMUT_377 + AF458026.1(IGnT C):c.816G>C chr11 35168008 35168009 BGMUT_951 + M59040.1(CD44):c.488C>A chr11 35154766 35154767 BGMUT_383 + M59040.1(CD44):c.[..137G>C..] chr11 35154836 35154837 BGMUT_383 + M59040.1(CD44):c.[..207T>C..] chr11 35158417 35158418 BGMUT_383 + M59040.1(CD44):c.[..255T>C..] chr11 35158488 35158489 BGMUT_383 + M59040.1(CD44):c.[..326A>C..] chr11 35193022 35193023 BGMUT_383 + M59040.1(CD44):c.[..716G>A..] chr19 53945625 53945626 BGMUT_287 - M35531.1(FUT1):c.725T>G chr19 5795090 5795091 BGMUT_473 - X53578.1(FUT3):c.760G>A chr19 5783208 5783209 BGMUT_477 - M98825.1(FUT6):c.[..370C>T..] chr19 5782848 5782849 BGMUT_477 - M98825.1(FUT6):c.[..730C>G..] chr19 5782671 5782672 BGMUT_477 - M98825.1(FUT6):c.[..907C>G..] chr19 5783208 5783209 BGMUT_478 - M98825.1(FUT6):c.[..370C>T..] chr19 5782671 5782672 BGMUT_478 - M98825.1(FUT6):c.[..907C>G..] chr18 41564283 41565167 BGMUT_393 + L36121.1(SLC14A1):c.1_341del chr18 41570529 41570530 BGMUT_392 + L36121.1(SLC14A1):c.582C>G chr18 41573510 41573511 BGMUT_387 + L36121.1(SLC14A1):c.838G>A chr18 41570611 41570612 BGMUT_389 + L36121.1(SLC14A1):c.663+1G>T chr18 41573543 41573544 BGMUT_390 + L36121.1(SLC14A1):c.871T>C chr18 41568235 41568236 BGMUT_388 + L36121.1(SLC14A1):c.342-1G>A chr7 142160176 142160177 BGMUT_413 - M64934.2(KEL):c.1268C>T chr7 142168289 142168290 BGMUT_410 - M64934.2(KEL):c.742C>T chr7 142166547 142166548 BGMUT_415 - M64934.2(KEL):c.[..1088G>A..] chr7 142156364 142156365 BGMUT_415 - M64934.2(KEL):c.[..2030A>G..] chr7 142167818 142167819 BGMUT_416 - M64934.2(KEL):c.[..986T>C..] chr7 142157516 142157517 BGMUT_416 - M64934.2(KEL):c.[..1596G>A..] chr7 142155267 142155268 BGMUT_417 - M64934.2(KEL):c.[..2107G>A..] chr7 142157251 142157252 BGMUT_417 - M64934.2(KEL):c.[..1719C>T..] chr7 142171844 142171845 BGMUT_395 - M64934.2(KEL):c.578C>T chr7 142171844 142171845 BGMUT_396 - M64934.2(KEL):c.578C>G chr7 142171845 142171846 BGMUT_397 - M64934.2(KEL):c.577A>T chr7 142158256 142158257 BGMUT_401 - M64934.2(KEL):c.1481A>T chr7 142157469 142157470 BGMUT_405 - M64934.2(KEL):c.1643A>G chr7 142168126 142168127 BGMUT_402 - M64934.2(KEL):c.905T>C chr7 142174863 142174864 BGMUT_406 - M64934.2(KEL):c.[..388C>T..] chr7 142174862 142174863 BGMUT_406 - M64934.2(KEL):c.[..389G>A..] chr7 142158262 142158263 BGMUT_407 - M64934.2(KEL):c.1475G>A chr7 142168189 142168190 BGMUT_399 - M64934.2(KEL):c.842G>A chr7 142167839 142167840 BGMUT_408 - M64934.2(KEL):c.965C>T chr7 142166490 142166491 BGMUT_403 - M64934.2(KEL):c.1145A>G chr7 142171883 142171884 BGMUT_404 - M64934.2(KEL):c.539G>C chr7 142168288 142168289 BGMUT_409 - M64934.2(KEL):c.743G>A chr7 142160227 142160228 BGMUT_411 - M64934.2(KEL):c.1217G>A chr7 142168286 142168287 BGMUT_412 - M64934.2(KEL):c.745G>A chr7 142156871 142156872 BGMUT_851 - M64934.2(KEL):c.1868G>A chr7 142168190 142168191 BGMUT_398 - M64934.2(KEL):c.841C>T chr7 142168118 142168119 BGMUT_852 - M64934.2(KEL):c.913G>A chr7 142156949 142156950 BGMUT_400 - M64934.2(KEL):c.[..1790T>C..] chr7 142156840 142156841 BGMUT_400 - M64934.2(KEL):c.[..1899A>G..] chr7 142156840 142156841 BGMUT_867 - M64934.2(KEL):c.1899A>G chr7 142175282 142175283 BGMUT_418 - M64934.2(KEL):c.223+1G>C chr7 142168106 142168107 BGMUT_900 - M64934.2(KEL):c.924+1G>A chr7 142160228 142160229 BGMUT_902 - M64934.2(KEL):c.1216C>T chr7 142157434 142157435 BGMUT_905 - M64934.2(KEL):c.1678C>G chr7 142156371 142156372 BGMUT_906 - M64934.2(KEL):c.2023C>T chr7 142174945 142174946 BGMUT_908 - M64934.2(KEL):c.[..306C>A..] chr7 142160146 142160147 BGMUT_908 - M64934.2(KEL):c.[..1298C>T..] chr7 142157207 142157208 BGMUT_909 - M64934.2(KEL):c.1763A>G chr7 142168190 142168191 BGMUT_910 - M64934.2(KEL):c.841C>T chr7 142168106 142168107 BGMUT_899 - M64934.2(KEL):c.924+1G>T chr7 142167856 142167857 BGMUT_901 - M64934.2(KEL):c.948G>A chr7 142158260 142158261 BGMUT_903 - M64934.2(KEL):c.1477C>T chr7 142157752 142157753 BGMUT_904 - M64934.2(KEL):c.1546C>T chr7 142156367 142156368 BGMUT_422 - M64934.2(KEL):c.2027G>A chr7 142158602 142158603 BGMUT_426 - M64934.2(KEL):c.1377G>A chr7 142171898 142171899 BGMUT_427 - M64934.2(KEL):c.526-2A>G chr7 142174869 142174870 BGMUT_419 - M64934.2(KEL):c.382C>T chr7 142171848 142171849 BGMUT_425 - M64934.2(KEL):c.[..574C>T..] chr7 142166547 142166548 BGMUT_425 - M64934.2(KEL):c.[..1088G>A..] chr7 142167762 142167763 BGMUT_421 - M64934.2(KEL):c.1042C>T chr7 142175282 142175283 BGMUT_423 - M64934.2(KEL):c.223+1G>A chr7 142166547 142166548 BGMUT_424 - M64934.2(KEL):c.1088G>A chr7 142158317 142158318 BGMUT_428 - M64934.2(KEL):c.1420C>T chr7 142168128 142168129 BGMUT_429 - M64934.2(KEL):c.903delG chr7 142167818 142167819 BGMUT_907 - M64934.2(KEL):c.986T>C chr7 142175005 142175006 BGMUT_420 - M64934.2(KEL):c.246T>A chr19 5795791 5795792 BGMUT_463 - X53578.1(FUT3):c.59T>G chr19 5795803 5795804 BGMUT_461 - X53578.1(FUT3):c.[..47G>C..] chr19 5795342 5795343 BGMUT_461 - X53578.1(FUT3):c.[..508G>A..] chr19 5795480 5795481 BGMUT_475 - X53578.1(FUT3):c.370T>G chr19 5795546 5795547 BGMUT_474 - X53578.1(FUT3):c.304C>A chr19 5795648 5795649 BGMUT_470 - X53578.1(FUT3):c.[..202T>C..] chr19 5795536 5795537 BGMUT_470 - X53578.1(FUT3):c.[..314C>T..] chr19 5795366 5795367 BGMUT_470 - X53578.1(FUT3):c.[..484G>A..] chr19 5795366 5795367 BGMUT_471 - X53578.1(FUT3):c.[..484G>A..] chr19 5795183 5795184 BGMUT_471 - X53578.1(FUT3):c.[..667G>A..] chr19 5795791 5795792 BGMUT_465 - X53578.1(FUT3):c.[..59T>G..] chr19 5795342 5795343 BGMUT_465 - X53578.1(FUT3):c.[..508G>A..] chr19 5794783 5794784 BGMUT_464 - X53578.1(FUT3):c.1067T>A chr19 5795366 5795367 BGMUT_472 - X53578.1(FUT3):c.[..484G>A..] chr19 5795183 5795184 BGMUT_472 - X53578.1(FUT3):c.[..667G>A..] chr19 5795042 5795043 BGMUT_472 - X53578.1(FUT3):c.[..808G>A..] chr19 5795791 5795792 BGMUT_466 - X53578.1(FUT3):c.[..59T>G..] chr19 5794783 5794784 BGMUT_466 - X53578.1(FUT3):c.[..1067T>A..] chr19 5795803 5795804 BGMUT_462 - X53578.1(FUT3):c.[..47G>C..] chr19 5795648 5795649 BGMUT_462 - X53578.1(FUT3):c.[..202T>C..] chr19 5795536 5795537 BGMUT_462 - X53578.1(FUT3):c.[..314C>T..] chr19 5795648 5795649 BGMUT_467 - X53578.1(FUT3):c.[..202T>C..] chr19 5795536 5795537 BGMUT_467 - X53578.1(FUT3):c.[..314C>T..] chr19 5795648 5795649 BGMUT_468 - X53578.1(FUT3):c.[..202T>C..] chr19 5794783 5794784 BGMUT_468 - X53578.1(FUT3):c.[..1067T>A..] chr19 5795791 5795792 BGMUT_469 - X53578.1(FUT3):c.[..59T>G..] chr19 5795405 5795406 BGMUT_469 - X53578.1(FUT3):c.[..445C>A..] chr2 127167693 127167694 BGMUT_266 + M36284.1(GYPC):c.[..131G>T..] chr2 127167696 127167697 BGMUT_266 + M36284.1(GYPC):c.[..134delC..] chr19 50007415 50007416 BGMUT_894 + X83425.1(LU):c.361C>T chr19 50008623 50008624 BGMUT_895 + X83425.1(LU):c.691C>T chr19 50008643 50008644 BGMUT_514 + X83425.1(LU):c.711C>A chr19 50008365 50008366 BGMUT_502 + X83425.1(LU):c.524G>A chr19 50015915 50015916 BGMUT_505 + X83425.1(LU):c.1878C>T chr19 50007473 50007474 BGMUT_508 + X83425.1(LU):c.419G>A chr19 50006337 50006343 BGMUT_507 + X83425.1(LU):c.99_104delGCGCTT chr19 50014155 50014156 BGMUT_509 + X83425.1(LU):c.[..1340C>T..] chr19 50014730 50014731 BGMUT_509 + X83425.1(LU):c.[..1671C>T..] chr19 50014801 50014802 BGMUT_509 + X83425.1(LU):c.[..1742A>T..] chr19 50008611 50008612 BGMUT_510 + X83425.1(LU):c.679C>T chr19 50007394 50007395 BGMUT_511 + X83425.1(LU):c.[..340G>A..] chr19 50016101 50016102 BGMUT_511 + X83425.1(LU):c.[..1971C>T..] chr19 50009368 50009369 BGMUT_512 + X83425.1(LU):c.905C>T chr19 50007336 50007337 BGMUT_513 + X83425.1(LU):c.282C>G chr19 50007380 50007381 BGMUT_503 + X83425.1(LU):c.326G>A chr19 50008543 50008544 BGMUT_506 + X83425.1(LU):c.611T>A chr19 50009287 50009288 BGMUT_504 + X83425.1(LU):c.824C>T chr19 50007284 50007285 BGMUT_498 + X83425.1(LU):c.230G>A chr19 10259033 10259043 BGMUT_517 + S78852.1(ICAM4):c.346_355del10 chr19 10258986 10258987 BGMUT_516 + S78852.1(ICAM4):c.299A>G chr19 5783208 5783209 BGMUT_479 - M98825.1(FUT6):c.[..370C>T..] chr19 5782839 5782840 BGMUT_479 - M98825.1(FUT6):c.[..739G>A..] chr19 5782839 5782840 BGMUT_480 - M98825.1(FUT6):c.[..739G>A..] chr19 5782633 5782634 BGMUT_480 - M98825.1(FUT6):c.[..945C>A..] chr11 827280 827282 BGMUT_759 + BT007397.1(CD151):c.383_384insG chr11 827535 827536 BGMUT_760 + BT007397.1(CD151):c.533G>A chr9 133162461 133162463 BGMUT_23 - AF134412.1(ABO):c.261delG #insertion in reference# chr9 133166693 133166694 BGMUT_24 - AF134412.1(ABO):c.[..98+362C>T..] chr9 133166686 133166687 BGMUT_24 - AF134412.1(ABO):c.[..98+369C>G..] chr9 133166659 133166660 BGMUT_24 - AF134412.1(ABO):c.[..98+396T>C..] chr9 133166618 133166619 BGMUT_24 - AF134412.1(ABO):c.[..98+437C>T..] chr9 133166516 133166517 BGMUT_24 - AF134412.1(ABO):c.[..98+539C>A..] chr9 133165699 133165700 BGMUT_24 - AF134412.1(ABO):c.[..155+575C>T..] chr9 133163084 133163085 BGMUT_24 - AF134412.1(ABO):c.[..203+1678T>C..] chr9 133162701 133162702 BGMUT_24 - AF134412.1(ABO):c.[..239+336G>A..] chr9 133161565 133161566 BGMUT_24 - AF134412.1(ABO):c.[..373+784G>A..] chr9 133166693 133166694 BGMUT_25 - AF134412.1(ABO):c.[..98+362C>T..] chr9 133166686 133166687 BGMUT_25 - AF134412.1(ABO):c.[..98+369C>G..] chr9 133166659 133166660 BGMUT_25 - AF134412.1(ABO):c.[..98+396T>C..] chr9 133166618 133166619 BGMUT_25 - AF134412.1(ABO):c.[..98+437C>T..] chr9 133166516 133166517 BGMUT_25 - AF134412.1(ABO):c.[..98+539C>A..] chr9 133165699 133165700 BGMUT_25 - AF134412.1(ABO):c.[..155+575C>T..] chr9 133164661 133164662 BGMUT_25 - AF134412.1(ABO):c.[..203+102C>A..] chr9 133163084 133163085 BGMUT_25 - AF134412.1(ABO):c.[..203+1678T>C..] chr9 133162701 133162702 BGMUT_25 - AF134412.1(ABO):c.[..239+336G>A..] chr9 133161565 133161566 BGMUT_25 - AF134412.1(ABO):c.[..373+784G>A..] chr9 133166323 133166324 BGMUT_26 - AF134412.1(ABO):c.[..106G>T..] chr9 133164791 133164792 BGMUT_26 - AF134412.1(ABO):c.[..188G>A..] chr9 133164790 133164791 BGMUT_26 - AF134412.1(ABO):c.[..189C>T..] chr9 133163059 133163060 BGMUT_26 - AF134412.1(ABO):c.[..220C>T..] chr9 133162461 133162463 BGMUT_26 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_26 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_26 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_26 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_26 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_26 - AF134412.1(ABO):c.[..829G>A..] chr9 133166659 133166660 BGMUT_27 - AF134412.1(ABO):c.[..98+396T>C..] chr9 133166618 133166619 BGMUT_27 - AF134412.1(ABO):c.[..98+437C>T..] chr9 133166069 133166070 BGMUT_27 - AF134412.1(ABO):c.[..155+205C>T..] chr9 133165795 133165796 BGMUT_27 - AF134412.1(ABO):c.[..155+479C>T..] chr9 133165749 133165750 BGMUT_27 - AF134412.1(ABO):c.[..155+525A>T..] chr9 133165305 133165306 BGMUT_27 - AF134412.1(ABO):c.[..155+969T>C..] chr9 133165212 133165213 BGMUT_27 - AF134412.1(ABO):c.[..155+1063A>G..] chr9 133165031 133165032 BGMUT_27 - AF134412.1(ABO):c.[..155+1244C>T..] chr9 133164997 133164998 BGMUT_27 - AF134412.1(ABO):c.[..155+1278T>C..] chr9 133164918 133164919 BGMUT_27 - AF134412.1(ABO):c.[..155+1357C>T..] chr9 133164748 133164749 BGMUT_27 - AF134412.1(ABO):c.[..203+28G>C..] chr9 133164689 133164691 BGMUT_27 - AF134412.1(ABO):c.[..203+73_203+74insGTGTGGACAGAAG..] chr9 133164649 133164650 BGMUT_27 - AF134412.1(ABO):c.[..203+114C>T..] chr9 133164600 133164601 BGMUT_27 - AF134412.1(ABO):c.[..203+163G>A..] chr9 133164417 133164418 BGMUT_27 - AF134412.1(ABO):c.[..203+346T>G..] chr9 133164025 133164026 BGMUT_27 - AF134412.1(ABO):c.[..203+738T>G..] chr9 133163587 133163588 BGMUT_27 - AF134412.1(ABO):c.[..203+1176C>T..] chr9 133163296 133163297 BGMUT_27 - AF134412.1(ABO):c.[..203+1467G>A..] chr9 133163267 133163268 BGMUT_27 - AF134412.1(ABO):c.[..203+1496T>C..] chr9 133163252 133163253 BGMUT_27 - AF134412.1(ABO):c.[..203+1511T>G..] chr9 133163138 133163140 BGMUT_27 - AF134412.1(ABO):c.[..203+1623_203+1624insC..] chr9 133162933 133162935 BGMUT_27 - AF134412.1(ABO):c.[..239+103_239+104insCCC..] chr9 133162731 133162732 BGMUT_27 - AF134412.1(ABO):c.[..239+306C>T..] chr9 133162587 133162588 BGMUT_27 - AF134412.1(ABO):c.[..239+450C>A..] chr9 133162510 133162511 BGMUT_27 - AF134412.1(ABO):c.[..239+527G>A..] chr9 133162260 133162261 BGMUT_27 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_27 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_27 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_27 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_27 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_27 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_27 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_27 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_27 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_27 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_27 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_27 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_27 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133167100 133167101 BGMUT_28 - AF134412.1(ABO):c.[..53G>T..] chr9 133163059 133163060 BGMUT_28 - AF134412.1(ABO):c.[..220C>T..] chr9 133162426 133162427 BGMUT_28 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_28 - AF134412.1(ABO):c.[..526C>G..] chr9 133160869 133160870 BGMUT_28 - AF134412.1(ABO):c.[..802G>A..] chr9 133160575 133160576 BGMUT_28 - AF134412.1(ABO):c.[..1096G>A..] chr9 133162461 133162463 BGMUT_30 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161092 133161093 BGMUT_30 - AF134412.1(ABO):c.[..579T>C..] chr9 133162461 133162463 BGMUT_31 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_31 - AF134412.1(ABO):c.[..297A>G..] chr9 133162260 133162261 BGMUT_31 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_31 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_31 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_31 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_31 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_31 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_31 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_31 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_31 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_31 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_31 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133162461 133162463 BGMUT_32 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161025 133161026 BGMUT_32 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_32 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_32 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_32 - AF134412.1(ABO):c.[..829G>A..] chr9 133166659 133166660 BGMUT_33 - AF134412.1(ABO):c.[..98+396T>C..] chr9 133166618 133166619 BGMUT_33 - AF134412.1(ABO):c.[..98+437C>T..] chr9 133166069 133166070 BGMUT_33 - AF134412.1(ABO):c.[..155+205C>T..] chr9 133165795 133165796 BGMUT_33 - AF134412.1(ABO):c.[..155+479C>T..] chr9 133165749 133165750 BGMUT_33 - AF134412.1(ABO):c.[..155+525A>T..] chr9 133165305 133165306 BGMUT_33 - AF134412.1(ABO):c.[..155+969T>C..] chr9 133165212 133165213 BGMUT_33 - AF134412.1(ABO):c.[..155+1063A>G..] chr9 133165031 133165032 BGMUT_33 - AF134412.1(ABO):c.[..155+1244C>T..] chr9 133164997 133164998 BGMUT_33 - AF134412.1(ABO):c.[..155+1278T>C..] chr9 133164748 133164749 BGMUT_33 - AF134412.1(ABO):c.[..203+28G>C..] chr9 133164689 133164691 BGMUT_33 - AF134412.1(ABO):c.[..203+73_203+74insGTGTGGACAGAAG..] chr9 133164649 133164650 BGMUT_33 - AF134412.1(ABO):c.[..203+114C>T..] chr9 133164600 133164601 BGMUT_33 - AF134412.1(ABO):c.[..203+163G>A..] chr9 133164417 133164418 BGMUT_33 - AF134412.1(ABO):c.[..203+346T>G..] chr9 133164025 133164026 BGMUT_33 - AF134412.1(ABO):c.[..203+738T>G..] chr9 133163587 133163588 BGMUT_33 - AF134412.1(ABO):c.[..203+1176C>T..] chr9 133163296 133163297 BGMUT_33 - AF134412.1(ABO):c.[..203+1467G>A..] chr9 133163267 133163268 BGMUT_33 - AF134412.1(ABO):c.[..203+1496T>C..] chr9 133163252 133163253 BGMUT_33 - AF134412.1(ABO):c.[..203+1511T>G..] chr9 133163138 133163140 BGMUT_33 - AF134412.1(ABO):c.[..203+1623_203+1624insC..] chr9 133162933 133162935 BGMUT_33 - AF134412.1(ABO):c.[..239+103_239+104insCCC..] chr9 133162731 133162732 BGMUT_33 - AF134412.1(ABO):c.[..239+306C>T..] chr9 133162587 133162588 BGMUT_33 - AF134412.1(ABO):c.[..239+450C>A..] chr9 133162510 133162511 BGMUT_33 - AF134412.1(ABO):c.[..239+527G>A..] chr9 133162260 133162261 BGMUT_33 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_33 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_33 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_33 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_33 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_33 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_33 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161563 133161564 BGMUT_33 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_33 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_33 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_33 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_33 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_34 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_34 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_34 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_34 - AF134412.1(ABO):c.[..681G>A..] chr9 133160950 133160951 BGMUT_34 - AF134412.1(ABO):c.[..721C>T..] chr9 133160900 133160901 BGMUT_34 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_34 - AF134412.1(ABO):c.[..829G>A..] chr9 133161204 133161205 BGMUT_35 - AF134412.1(ABO):c.[..467C>T..] chr9 133160866 133160868 BGMUT_35 - AF134412.1(ABO):c.[..804_805insG..] chr9 133160610 133160611 BGMUT_35 - AF134412.1(ABO):c.[..1061delC..] chr9 133162461 133162463 BGMUT_36 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162405 133162406 BGMUT_36 - AF134412.1(ABO):c.[..318C>T..] chr9 133161204 133161205 BGMUT_36 - AF134412.1(ABO):c.[..467C>T..] chr9 133162461 133162463 BGMUT_37 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161014 133161015 BGMUT_37 - AF134412.1(ABO):c.[..657C>T..] chr9 133162461 133162463 BGMUT_38 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_38 - AF134412.1(ABO):c.[..297A>G..] chr9 133161129 133161130 BGMUT_38 - AF134412.1(ABO):c.[..542G>A..] chr9 133161025 133161026 BGMUT_38 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_38 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_38 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_38 - AF134412.1(ABO):c.[..829G>A..] chr9 133162260 133162261 BGMUT_39 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_39 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_39 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_39 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_39 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_39 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_39 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_39 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_39 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_39 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_39 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_39 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_39 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_40 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_40 - AF134412.1(ABO):c.[..297A>G..] chr9 133161076 133161077 BGMUT_40 - AF134412.1(ABO):c.[..595C>T..] chr9 133161025 133161026 BGMUT_40 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_40 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_40 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_40 - AF134412.1(ABO):c.[..829G>A..] chr9 133166069 133166070 BGMUT_41 - AF134412.1(ABO):c.[..155+205C>T..] chr9 133165795 133165796 BGMUT_41 - AF134412.1(ABO):c.[..155+479C>T..] chr9 133165749 133165750 BGMUT_41 - AF134412.1(ABO):c.[..155+525A>T..] chr9 133165305 133165306 BGMUT_41 - AF134412.1(ABO):c.[..155+969T>C..] chr9 133165212 133165213 BGMUT_41 - AF134412.1(ABO):c.[..155+1063A>G..] chr9 133165031 133165032 BGMUT_41 - AF134412.1(ABO):c.[..155+1244C>T..] chr9 133164997 133164998 BGMUT_41 - AF134412.1(ABO):c.[..155+1278T>C..] chr9 133164748 133164749 BGMUT_41 - AF134412.1(ABO):c.[..203+28G>C..] chr9 133164689 133164691 BGMUT_41 - AF134412.1(ABO):c.[..203+73_203+74insGTGTGGACAGAAG..] chr9 133164649 133164650 BGMUT_41 - AF134412.1(ABO):c.[..203+114C>T..] chr9 133164600 133164601 BGMUT_41 - AF134412.1(ABO):c.[..203+163G>A..] chr9 133164417 133164418 BGMUT_41 - AF134412.1(ABO):c.[..203+346T>G..] chr9 133164025 133164026 BGMUT_41 - AF134412.1(ABO):c.[..203+738T>G..] chr9 133163587 133163588 BGMUT_41 - AF134412.1(ABO):c.[..203+1176C>T..] chr9 133163296 133163297 BGMUT_41 - AF134412.1(ABO):c.[..203+1467G>A..] chr9 133163267 133163268 BGMUT_41 - AF134412.1(ABO):c.[..203+1496T>C..] chr9 133163252 133163253 BGMUT_41 - AF134412.1(ABO):c.[..203+1511T>G..] chr9 133163138 133163140 BGMUT_41 - AF134412.1(ABO):c.[..203+1623_203+1624insC..] chr9 133162933 133162935 BGMUT_41 - AF134412.1(ABO):c.[..239+103_239+104insCCC..] chr9 133162731 133162732 BGMUT_41 - AF134412.1(ABO):c.[..239+306C>T..] chr9 133162587 133162588 BGMUT_41 - AF134412.1(ABO):c.[..239+450C>A..] chr9 133162510 133162511 BGMUT_41 - AF134412.1(ABO):c.[..239+527G>A..] chr9 133162260 133162261 BGMUT_41 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_41 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_41 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_41 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_41 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_41 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_41 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161563 133161564 BGMUT_41 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_41 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_41 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_41 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_41 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_42 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_42 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_42 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_42 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_42 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_42 - AF134412.1(ABO):c.[..829G>A..] chr9 133161204 133161205 BGMUT_43 - AF134412.1(ABO):c.[..467C>T..] chr9 133160778 133160779 BGMUT_43 - AF134412.1(ABO):c.[..893C>T..] chr9 133160744 133160745 BGMUT_44 - AF134412.1(ABO):c.927C>A chr9 133162461 133162463 BGMUT_45 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161565 133161566 BGMUT_45 - AF134412.1(ABO):c.[..373+784G>A..] chr9 133161330 133161331 BGMUT_45 - AF134412.1(ABO):c.[..373+1019C>T..] chr9 133162461 133162463 BGMUT_46 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_46 - AF134412.1(ABO):c.[..297A>G..] chr9 133162260 133162261 BGMUT_46 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_46 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_46 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_46 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_46 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_46 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_46 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_46 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_46 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_46 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_46 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133162461 133162463 BGMUT_47 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161025 133161026 BGMUT_47 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_47 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_47 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_47 - AF134412.1(ABO):c.[..829G>A..] chr9 133161903 133161904 BGMUT_47 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_47 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_47 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_47 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_47 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_47 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_47 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_47 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133161025 133161026 BGMUT_48 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_48 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_48 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_48 - AF134412.1(ABO):c.[..829G>A..] chr9 133161338 133161339 BGMUT_48 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_48 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162426 133162427 BGMUT_49 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_49 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_49 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_49 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_49 - AF134412.1(ABO):c.[..829G>A..] chr9 133162307 133162308 BGMUT_49 - AF134412.1(ABO):c.[..373+42G>T..] chr9 133162186 133162187 BGMUT_49 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162170 133162171 BGMUT_49 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162078 133162079 BGMUT_49 - AF134412.1(ABO):c.[..373+271A>G..] chr9 133162069 133162070 BGMUT_49 - AF134412.1(ABO):c.[..373+280C>T..] chr9 133161903 133161904 BGMUT_49 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161721 133161722 BGMUT_49 - AF134412.1(ABO):c.[..373+628A>G..] chr9 133161563 133161564 BGMUT_49 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_49 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161448 133161449 BGMUT_49 - AF134412.1(ABO):c.[..373+901G>A..] chr9 133161399 133161400 BGMUT_49 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133167064 133167066 BGMUT_50 - AF134412.1(ABO):c.[..88_89insG..] chr9 133162461 133162463 BGMUT_50 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161204 133161205 BGMUT_50 - AF134412.1(ABO):c.[..467C>T..] chr9 133161565 133161566 BGMUT_51 - AF134412.1(ABO):c.373+784G>A chr9 133162461 133162463 BGMUT_52 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161204 133161205 BGMUT_52 - AF134412.1(ABO):c.[..467C>T..] chr9 133160610 133160611 BGMUT_52 - AF134412.1(ABO):c.[..1061delC..] chr9 133162461 133162463 BGMUT_53 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_53 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_53 - AF134412.1(ABO):c.[..646T>A..] chr9 133160900 133160901 BGMUT_53 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_53 - AF134412.1(ABO):c.[..829G>A..] chr9 133160617 133160618 BGMUT_53 - AF134412.1(ABO):c.[..1054C>T..] chr9 133166323 133166324 BGMUT_54 - AF134412.1(ABO):c.[..106G>T..] chr9 133164791 133164792 BGMUT_54 - AF134412.1(ABO):c.[..188G>A..] chr9 133164790 133164791 BGMUT_54 - AF134412.1(ABO):c.[..189C>T..] chr9 133163059 133163060 BGMUT_54 - AF134412.1(ABO):c.[..220C>T..] chr9 133162461 133162463 BGMUT_54 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_54 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_54 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_54 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_54 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_54 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_54 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_54 - AF134412.1(ABO):c.[..930G>A..] chr9 133160575 133160576 BGMUT_54 - AF134412.1(ABO):c.[..1096G>A..] chr9 133162461 133162463 BGMUT_55 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161217 133161218 BGMUT_55 - AF134412.1(ABO):c.[..454T>C..] chr9 133162461 133162463 BGMUT_56 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133160903 133160904 BGMUT_56 - AF134412.1(ABO):c.[..768C>A..] chr9 133162461 133162463 BGMUT_58 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162405 133162406 BGMUT_58 - AF134412.1(ABO):c.[..318C>T..] chr9 133161204 133161205 BGMUT_58 - AF134412.1(ABO):c.[..467C>T..] chr9 133160942 133160943 BGMUT_58 - AF134412.1(ABO):c.[..729C>T..] chr9 133162461 133162463 BGMUT_59 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133160745 133160746 BGMUT_59 - AF134412.1(ABO):c.[..926A>G..] chr9 133162461 133162463 BGMUT_60 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162405 133162406 BGMUT_60 - AF134412.1(ABO):c.[..318C>T..] chr9 133161565 133161566 BGMUT_60 - AF134412.1(ABO):c.[..373+784G>A..] chr9 133162461 133162463 BGMUT_61 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161025 133161026 BGMUT_61 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_61 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_61 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_61 - AF134412.1(ABO):c.[..829G>A..] chr9 133162461 133162463 BGMUT_62 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_62 - AF134412.1(ABO):c.[..297A>G..] chr9 133161142 133161143 BGMUT_62 - AF134412.1(ABO):c.[..529G>A..] chr9 133161025 133161026 BGMUT_62 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_62 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_62 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_62 - AF134412.1(ABO):c.[..829G>A..] chr9 133162260 133162261 BGMUT_62 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_62 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_62 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_62 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_62 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_62 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_62 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161563 133161564 BGMUT_62 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_62 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_62 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_62 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_62 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_63 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_63 - AF134412.1(ABO):c.[..297A>G..] chr9 133161133 133161134 BGMUT_63 - AF134412.1(ABO):c.[..538C>T..] chr9 133161025 133161026 BGMUT_63 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_63 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_63 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_63 - AF134412.1(ABO):c.[..829G>A..] chr9 133162260 133162261 BGMUT_63 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_63 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_63 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_63 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_63 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_63 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_63 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_63 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_63 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_63 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_63 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_63 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_63 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_64 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_64 - AF134412.1(ABO):c.[..297A>G..] chr9 133161173 133161174 BGMUT_64 - AF134412.1(ABO):c.[..498C>T..] chr9 133161025 133161026 BGMUT_64 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_64 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_64 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_64 - AF134412.1(ABO):c.[..829G>A..] chr9 133162260 133162261 BGMUT_64 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_64 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_64 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_64 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_64 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_64 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_64 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_64 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_64 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_64 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_64 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_64 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_64 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_65 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_65 - AF134412.1(ABO):c.[..297A>G..] chr9 133162372 133162373 BGMUT_65 - AF134412.1(ABO):c.[..351G>A..] chr9 133161025 133161026 BGMUT_65 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_65 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_65 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_65 - AF134412.1(ABO):c.[..829G>A..] chr9 133162260 133162261 BGMUT_65 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_65 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_65 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_65 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_65 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_65 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_65 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_65 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_65 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_65 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_65 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_65 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_65 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133166323 133166324 BGMUT_66 - AF134412.1(ABO):c.[..106G>T..] chr9 133164791 133164792 BGMUT_66 - AF134412.1(ABO):c.[..188G>A..] chr9 133164790 133164791 BGMUT_66 - AF134412.1(ABO):c.[..189C>T..] chr9 133163059 133163060 BGMUT_66 - AF134412.1(ABO):c.[..220C>T..] chr9 133162461 133162463 BGMUT_66 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_66 - AF134412.1(ABO):c.[..297A>G..] chr9 133160990 133160991 BGMUT_66 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_66 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_66 - AF134412.1(ABO):c.[..829G>A..] chr9 133166323 133166324 BGMUT_67 - AF134412.1(ABO):c.[..106G>T..] chr9 133164791 133164792 BGMUT_67 - AF134412.1(ABO):c.[..188G>A..] chr9 133164790 133164791 BGMUT_67 - AF134412.1(ABO):c.[..189C>T..] chr9 133163059 133163060 BGMUT_67 - AF134412.1(ABO):c.[..220C>T..] chr9 133162461 133162463 BGMUT_67 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_67 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_67 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_67 - AF134412.1(ABO):c.[..681G>A..] chr9 133160842 133160843 BGMUT_67 - AF134412.1(ABO):c.[..829G>A..] chr9 133163059 133163060 BGMUT_68 - AF134412.1(ABO):c.[..220C>T..] chr9 133162461 133162463 BGMUT_68 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_68 - AF134412.1(ABO):c.[..297A>G..] chr9 133160990 133160991 BGMUT_68 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_68 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_68 - AF134412.1(ABO):c.[..829G>A..] chr9 133166659 133166660 BGMUT_68 - AF134412.1(ABO):c.[..98+396T>C..] chr9 133166618 133166619 BGMUT_68 - AF134412.1(ABO):c.[..98+437C>T..] chr9 133166069 133166070 BGMUT_68 - AF134412.1(ABO):c.[..155+205C>T..] chr9 133165795 133165796 BGMUT_68 - AF134412.1(ABO):c.[..155+479C>T..] chr9 133165749 133165750 BGMUT_68 - AF134412.1(ABO):c.[..155+525A>T..] chr9 133165305 133165306 BGMUT_68 - AF134412.1(ABO):c.[..155+969T>C..] chr9 133165212 133165213 BGMUT_68 - AF134412.1(ABO):c.[..155+1063A>G..] chr9 133165031 133165032 BGMUT_68 - AF134412.1(ABO):c.[..155+1244C>T..] chr9 133164997 133164998 BGMUT_68 - AF134412.1(ABO):c.[..155+1278T>C..] chr9 133164748 133164749 BGMUT_68 - AF134412.1(ABO):c.[..203+28G>C..] chr9 133164689 133164691 BGMUT_68 - AF134412.1(ABO):c.[..203+73_203+74insGTGTGGACAGAAG..] chr9 133164649 133164650 BGMUT_68 - AF134412.1(ABO):c.[..203+114C>T..] chr9 133164600 133164601 BGMUT_68 - AF134412.1(ABO):c.[..203+163G>A..] chr9 133164417 133164418 BGMUT_68 - AF134412.1(ABO):c.[..203+346T>G..] chr9 133164025 133164026 BGMUT_68 - AF134412.1(ABO):c.[..203+738T>G..] chr9 133163587 133163588 BGMUT_68 - AF134412.1(ABO):c.[..203+1176C>T..] chr9 133163296 133163297 BGMUT_68 - AF134412.1(ABO):c.[..203+1467G>A..] chr9 133163267 133163268 BGMUT_68 - AF134412.1(ABO):c.[..203+1496T>C..] chr9 133163252 133163253 BGMUT_68 - AF134412.1(ABO):c.[..203+1511T>G..] chr9 133163138 133163140 BGMUT_68 - AF134412.1(ABO):c.[..203+1623_203+1624insC..] chr9 133162933 133162935 BGMUT_68 - AF134412.1(ABO):c.[..239+103_239+104insCCC..] chr9 133162731 133162732 BGMUT_68 - AF134412.1(ABO):c.[..239+306C>T..] chr9 133162587 133162588 BGMUT_68 - AF134412.1(ABO):c.[..239+450C>A..] chr9 133162510 133162511 BGMUT_68 - AF134412.1(ABO):c.[..239+527G>A..] chr9 133162260 133162261 BGMUT_68 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_68 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_68 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_68 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_68 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_68 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_68 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161563 133161564 BGMUT_68 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_68 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_68 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_68 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_68 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133166323 133166324 BGMUT_69 - AF134412.1(ABO):c.[..106G>T..] chr9 133164791 133164792 BGMUT_69 - AF134412.1(ABO):c.[..188G>A..] chr9 133164790 133164791 BGMUT_69 - AF134412.1(ABO):c.[..189C>T..] chr9 133162461 133162463 BGMUT_69 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_69 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_69 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_69 - AF134412.1(ABO):c.[..681G>A..] chr9 133160842 133160843 BGMUT_69 - AF134412.1(ABO):c.[..829G>A..] chr9 133166693 133166694 BGMUT_69 - AF134412.1(ABO):c.[..98+362C>T..] chr9 133166686 133166687 BGMUT_69 - AF134412.1(ABO):c.[..98+369C>G..] chr9 133166659 133166660 BGMUT_69 - AF134412.1(ABO):c.[..98+396T>C..] chr9 133166618 133166619 BGMUT_69 - AF134412.1(ABO):c.[..98+437C>T..] chr9 133166069 133166070 BGMUT_69 - AF134412.1(ABO):c.[..155+205C>T..] chr9 133165795 133165796 BGMUT_69 - AF134412.1(ABO):c.[..155+479C>T..] chr9 133165749 133165750 BGMUT_69 - AF134412.1(ABO):c.[..155+525A>T..] chr9 133165305 133165306 BGMUT_69 - AF134412.1(ABO):c.[..155+969T>C..] chr9 133165212 133165213 BGMUT_69 - AF134412.1(ABO):c.[..155+1063A>G..] chr9 133165031 133165032 BGMUT_69 - AF134412.1(ABO):c.[..155+1244C>T..] chr9 133164997 133164998 BGMUT_69 - AF134412.1(ABO):c.[..155+1278T>C..] chr9 133164748 133164749 BGMUT_69 - AF134412.1(ABO):c.[..203+28G>C..] chr9 133164689 133164691 BGMUT_69 - AF134412.1(ABO):c.[..203+73_203+74insGTGTGGACAGAAG..] chr9 133164649 133164650 BGMUT_69 - AF134412.1(ABO):c.[..203+114C>T..] chr9 133164600 133164601 BGMUT_69 - AF134412.1(ABO):c.[..203+163G>A..] chr9 133164417 133164418 BGMUT_69 - AF134412.1(ABO):c.[..203+346T>G..] chr9 133164025 133164026 BGMUT_69 - AF134412.1(ABO):c.[..203+738T>G..] chr9 133163587 133163588 BGMUT_69 - AF134412.1(ABO):c.[..203+1176C>T..] chr9 133163296 133163297 BGMUT_69 - AF134412.1(ABO):c.[..203+1467G>A..] chr9 133163267 133163268 BGMUT_69 - AF134412.1(ABO):c.[..203+1496T>C..] chr9 133163252 133163253 BGMUT_69 - AF134412.1(ABO):c.[..203+1511T>G..] chr9 133163138 133163140 BGMUT_69 - AF134412.1(ABO):c.[..203+1623_203+1624insC..] chr9 133162933 133162935 BGMUT_69 - AF134412.1(ABO):c.[..239+103_239+104insCCC..] chr9 133162731 133162732 BGMUT_69 - AF134412.1(ABO):c.[..239+306C>T..] chr9 133162587 133162588 BGMUT_69 - AF134412.1(ABO):c.[..239+450C>A..] chr9 133162510 133162511 BGMUT_69 - AF134412.1(ABO):c.[..239+527G>A..] chr9 133162260 133162261 BGMUT_69 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_69 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_69 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_69 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_69 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_69 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_69 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161563 133161564 BGMUT_69 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_69 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_69 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_69 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_69 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_70 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_70 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_70 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_70 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_70 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_70 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_70 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_70 - AF134412.1(ABO):c.[..930G>A..] chr9 133162186 133162187 BGMUT_70 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162170 133162171 BGMUT_70 - AF134412.1(ABO):c.[..373+179C>T..] chr9 133162078 133162079 BGMUT_70 - AF134412.1(ABO):c.[..373+271A>G..] chr9 133161903 133161904 BGMUT_70 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161721 133161722 BGMUT_70 - AF134412.1(ABO):c.[..373+628A>G..] chr9 133161563 133161564 BGMUT_70 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_70 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161448 133161449 BGMUT_70 - AF134412.1(ABO):c.[..373+901G>A..] chr9 133161399 133161400 BGMUT_70 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133162461 133162463 BGMUT_71 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_71 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_71 - AF134412.1(ABO):c.[..526C>G..] chr9 133161014 133161015 BGMUT_71 - AF134412.1(ABO):c.[..657C>T..] chr9 133160968 133160969 BGMUT_71 - AF134412.1(ABO):c.[..703G>A..] chr9 133160875 133160876 BGMUT_71 - AF134412.1(ABO):c.[..796C>A..] chr9 133160868 133160869 BGMUT_71 - AF134412.1(ABO):c.[..803G>C..] chr9 133160741 133160742 BGMUT_71 - AF134412.1(ABO):c.[..930G>A..] chr9 133162260 133162261 BGMUT_71 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_71 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162169 133162170 BGMUT_71 - AF134412.1(ABO):c.[..373+180-187dupGTGGGCTC..] chr9 133162161 133162162 BGMUT_71 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162123 133162124 BGMUT_71 - AF134412.1(ABO):c.[..373+226C>T..] chr9 133162114 133162115 BGMUT_71 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_71 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_71 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_71 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_71 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_71 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_71 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_71 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_71 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_72 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_72 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_72 - AF134412.1(ABO):c.[..646T>A..] chr9 133160900 133160901 BGMUT_72 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_72 - AF134412.1(ABO):c.[..829G>A..] chr9 133162260 133162261 BGMUT_72 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_72 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_72 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162157 133162158 BGMUT_72 - AF134412.1(ABO):c.[..373+192G>A..] chr9 133162114 133162115 BGMUT_72 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_72 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_72 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161563 133161564 BGMUT_72 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_72 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_72 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_72 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_72 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_73 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_73 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_73 - AF134412.1(ABO):c.[..646T>A..] chr9 133160900 133160901 BGMUT_73 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_73 - AF134412.1(ABO):c.[..829G>A..] chr9 133162260 133162261 BGMUT_73 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_73 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162169 133162170 BGMUT_73 - AF134412.1(ABO):c.[..373+180-187dupGTGGGCTC..] chr9 133162161 133162162 BGMUT_73 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162114 133162115 BGMUT_73 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_73 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_73 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_73 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_73 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_73 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_73 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_73 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_73 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_74 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161025 133161026 BGMUT_74 - AF134412.1(ABO):c.[..646T>A..] chr9 133160900 133160901 BGMUT_74 - AF134412.1(ABO):c.[..771C>T..] chr9 133162260 133162261 BGMUT_74 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133161903 133161904 BGMUT_74 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_74 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161563 133161564 BGMUT_74 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_74 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_74 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_74 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_74 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_75 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161025 133161026 BGMUT_75 - AF134412.1(ABO):c.[..646T>A..] chr9 133160900 133160901 BGMUT_75 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_75 - AF134412.1(ABO):c.[..829G>A..] chr9 133162260 133162261 BGMUT_75 - AF134412.1(ABO):c.[..373+89T>A..] chr9 133162186 133162187 BGMUT_75 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162169 133162170 BGMUT_75 - AF134412.1(ABO):c.[..373+180-187dupGTGGGCTC..] chr9 133162161 133162162 BGMUT_75 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162114 133162115 BGMUT_75 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133161903 133161904 BGMUT_75 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161856 133161857 BGMUT_75 - AF134412.1(ABO):c.[..373+493T>C..] chr9 133161632 133161633 BGMUT_75 - AF134412.1(ABO):c.[..373+717G>A..] chr9 133161563 133161564 BGMUT_75 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161458 133161459 BGMUT_75 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_75 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_75 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_75 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_76 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162186 133162187 BGMUT_76 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_76 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162081 133162082 BGMUT_76 - AF134412.1(ABO):c.[..373+268T>G..] chr9 133161903 133161904 BGMUT_76 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161767 133161768 BGMUT_76 - AF134412.1(ABO):c.[..373+582C>T..] chr9 133161563 133161564 BGMUT_76 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161561 133161562 BGMUT_76 - AF134412.1(ABO):c.[..373+788G>A..] chr9 133161458 133161459 BGMUT_76 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_76 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_76 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_76 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133167100 133167101 BGMUT_77 - AF134412.1(ABO):c.[..53G>T..] chr9 133163059 133163060 BGMUT_77 - AF134412.1(ABO):c.[..220C>T..] chr9 133162426 133162427 BGMUT_77 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_77 - AF134412.1(ABO):c.[..526C>G..] chr9 133161022 133161023 BGMUT_77 - AF134412.1(ABO):c.[..649C>T..] chr9 133160982 133160983 BGMUT_77 - AF134412.1(ABO):c.[..689G>A..] chr9 133160869 133160870 BGMUT_77 - AF134412.1(ABO):c.[..802G>A..] chr9 133160575 133160576 BGMUT_77 - AF134412.1(ABO):c.[..1096G>A..] chr9 133167100 133167101 BGMUT_78 - AF134412.1(ABO):c.[..53G>T..] chr9 133163059 133163060 BGMUT_78 - AF134412.1(ABO):c.[..220C>T..] chr9 133162426 133162427 BGMUT_78 - AF134412.1(ABO):c.[..297A>G..] chr9 133161145 133161146 BGMUT_78 - AF134412.1(ABO):c.[..526C>G..] chr9 133160982 133160983 BGMUT_78 - AF134412.1(ABO):c.[..689G>A..] chr9 133160869 133160870 BGMUT_78 - AF134412.1(ABO):c.[..802G>A..] chr9 133160575 133160576 BGMUT_78 - AF134412.1(ABO):c.[..1096G>A..] chr9 133167100 133167101 BGMUT_79 - AF134412.1(ABO):c.[..53G>T..] chr9 133163059 133163060 BGMUT_79 - AF134412.1(ABO):c.[..220C>T..] chr9 133162426 133162427 BGMUT_79 - AF134412.1(ABO):c.[..297A>G..] chr9 133161183 133161184 BGMUT_79 - AF134412.1(ABO):c.[..488C>T..] chr9 133161145 133161146 BGMUT_79 - AF134412.1(ABO):c.[..526C>G..] chr9 133160869 133160870 BGMUT_79 - AF134412.1(ABO):c.[..802G>A..] chr9 133160575 133160576 BGMUT_79 - AF134412.1(ABO):c.[..1096G>A..] chr9 133167064 133167066 BGMUT_80 - AF134412.1(ABO):c.88_89insG chr9 133162401 133162402 BGMUT_81 - AF134412.1(ABO):c.322C>T chr9 133161129 133161130 BGMUT_82 - AF134412.1(ABO):c.542G>A chr9 133162461 133162463 BGMUT_762 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_762 - AF134412.1(ABO):c.[..297A>G..] chr9 133166693 133166694 BGMUT_762 - AF134412.1(ABO):c.[..98+362C>T..] chr9 133166686 133166687 BGMUT_762 - AF134412.1(ABO):c.[..98+369C>G..] chr9 133166659 133166660 BGMUT_762 - AF134412.1(ABO):c.[..98+396T>C..] chr9 133166233 133166234 BGMUT_762 - AF134412.1(ABO):c.[..155+41G>A..] chr9 133166075 133166076 BGMUT_762 - AF134412.1(ABO):c.[..155+199C>T..] chr9 133165897 133165898 BGMUT_762 - AF134412.1(ABO):c.[..155+377C>T..] chr9 133165875 133165876 BGMUT_762 - AF134412.1(ABO):c.[..155+399G>A..] chr9 133165305 133165306 BGMUT_762 - AF134412.1(ABO):c.[..155+969T>C..] chr9 133165105 133165106 BGMUT_762 - AF134412.1(ABO):c.[..155+1170C>T..] chr9 133165021 133165022 BGMUT_762 - AF134412.1(ABO):c.[..155+1254C>T..] chr9 133164918 133164919 BGMUT_762 - AF134412.1(ABO):c.[..155+1357C>T..] chr9 133164775 133164776 BGMUT_762 - AF134412.1(ABO):c.[..203+1delG..] chr9 133164748 133164749 BGMUT_762 - AF134412.1(ABO):c.[..203+28G>C..] chr9 133164689 133164690 BGMUT_762 - AF134412.1(ABO):c.[..203+74A>T..] chr9 133164548 133164549 BGMUT_762 - AF134412.1(ABO):c.[..203+215A>G..] chr9 133164547 133164548 BGMUT_762 - AF134412.1(ABO):c.[..203+216A>C..] chr9 133164090 133164091 BGMUT_762 - AF134412.1(ABO):c.[..203+673A>T..] chr9 133164025 133164026 BGMUT_762 - AF134412.1(ABO):c.[..203+738T>G..] chr9 133163296 133163297 BGMUT_762 - AF134412.1(ABO):c.[..203+1467G>A..] chr9 133163267 133163268 BGMUT_762 - AF134412.1(ABO):c.[..203+1496T>C..] chr9 133163252 133163253 BGMUT_762 - AF134412.1(ABO):c.[..203+1511T>G..] chr9 133163139 133163140 BGMUT_762 - AF134412.1(ABO):c.[..203+1623C>CC..] chr9 133162541 133162542 BGMUT_762 - AF134412.1(ABO):c.[..239+496G>A..] chr9 133162189 133162190 BGMUT_762 - AF134412.1(ABO):c.[..373+160delT..] chr9 133162186 133162187 BGMUT_762 - AF134412.1(ABO):c.[..373+163T>C..] chr9 133162161 133162162 BGMUT_762 - AF134412.1(ABO):c.[..373+188G>A..] chr9 133162114 133162115 BGMUT_762 - AF134412.1(ABO):c.[..373+235C>G..] chr9 133162081 133162082 BGMUT_762 - AF134412.1(ABO):c.[..373+268T>G..] chr9 133161903 133161904 BGMUT_762 - AF134412.1(ABO):c.[..373+446A>G..] chr9 133161563 133161564 BGMUT_762 - AF134412.1(ABO):c.[..373+786A>G..] chr9 133161561 133161562 BGMUT_762 - AF134412.1(ABO):c.[..373+788G>A..] chr9 133161458 133161459 BGMUT_762 - AF134412.1(ABO):c.[..373+891A>G..] chr9 133161399 133161400 BGMUT_762 - AF134412.1(ABO):c.[..373+950A>G..] chr9 133161338 133161339 BGMUT_762 - AF134412.1(ABO):c.[..373+1011A>G..] chr9 133161336 133161337 BGMUT_762 - AF134412.1(ABO):c.[..373+1013G>A..] chr9 133162461 133162463 BGMUT_816 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133162426 133162427 BGMUT_816 - AF134412.1(ABO):c.[..297A>G..] chr9 133161169 133161170 BGMUT_816 - AF134412.1(ABO):c.[..502C>T..] chr9 133161025 133161026 BGMUT_816 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_816 - AF134412.1(ABO):c.[..681G>A..] chr9 133160900 133160901 BGMUT_816 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_816 - AF134412.1(ABO):c.[..829G>A..] chr9 133162461 133162463 BGMUT_819 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133161175 133161176 BGMUT_819 - AF134412.1(ABO):c.[..496delA..] chr9 133162461 133162463 BGMUT_827 - AF134412.1(ABO):c.[..261delG #insertion in reference#..] chr9 133160869 133160870 BGMUT_827 - AF134412.1(ABO):c.[..802G>A..] chr9 133162461 133162463 BGMUT_838 - AF134412.1(ABO):c.[..261delC #insertion in reference#..] chr9 133162426 133162427 BGMUT_838 - AF134412.1(ABO):c.[..297A>G..] chr9 133161025 133161026 BGMUT_838 - AF134412.1(ABO):c.[..646T>A..] chr9 133160990 133160991 BGMUT_838 - AF134412.1(ABO):c.[..681G>A..] chr9 133160984 133160985 BGMUT_838 - AF134412.1(ABO):c.[..687C>T..] chr9 133160900 133160901 BGMUT_838 - AF134412.1(ABO):c.[..771C>T..] chr9 133160842 133160843 BGMUT_838 - AF134412.1(ABO):c.[..829G>A..] chr9 133162461 133162463 BGMUT_839 - AF134412.1(ABO):c.[..261delC #insertion in reference#..] chr9 133162426 133162427 BGMUT_839 - AF134412.1(ABO):c.[..297A>G..] chr9 133160555 133160556 BGMUT_839 - AF134412.1(ABO):c.[..1116G>A..] chr9 133167065 133167067 BGMUT_941 - AF134412.1(ABO):c.[..87_88insGG..] chr9 133164203 133164204 BGMUT_941 - AF134412.1(ABO):c.[..203+560G>T..] chr19 530607 530608 BGMUT_521 + L10240.1(BSG):c.[..176G>T..] chr19 530626 530627 BGMUT_521 + L10240.1(BSG):c.[..195C>T..] chr19 531387 531388 BGMUT_521 + L10240.1(BSG):c.[..234C>G..] chr19 531707 531708 BGMUT_519 + L10240.1(BSG):c.370C>T chr19 531427 531428 BGMUT_520 + L10240.1(BSG):c.274G>A chr19 531664 531665 BGMUT_522 + L10240.1(BSG):c.327T>C chr19 53946001 53946002 BGMUT_274 - M35531.1(FUT1):c.349C>T chr6 49682548 49682549 BGMUT_704 - X64594.1(RHAG):c.1183delA chr6 49712481 49712482 BGMUT_703 - X64594.1(RHAG):c.3G>T chr6 49694955 49694956 BGMUT_702 - X64594.1(RHAG):c.236G>A chr6 49686817 49686818 BGMUT_707 - X64594.1(RHAG):c.946-1G>A chr6 49712326 49712327 BGMUT_709 - X64594.1(RHAG):c.157+1G>A chr6 49688205 49688206 BGMUT_706 - X64594.1(RHAG):c.[..808G>A..] chr6 49688175 49688176 BGMUT_706 - X64594.1(RHAG):c.[..838G>A..] chr6 49686694 49686695 BGMUT_710 - X64594.1(RHAG):c.1067+1G>A chr6 49682592 49682593 BGMUT_711 - X64594.1(RHAG):c.1139G>T chr6 49688177 49688178 BGMUT_705 - X64594.1(RHAG):c.836G>A chr1 25492545 25492546 BGMUT_815 - DQ322275.1(RHCE):c.48G>C chr1 25492545 25492546 BGMUT_898 - DQ322275.1(RHCE):c.[..48G>C..] chr1 25462623 25462624 BGMUT_898 - DQ322275.1(RHCE):c.[..733C>G..] chr1 25462669 25462672 BGMUT_870 - DQ322275.1(RHce):c.685_687delAGA chr1 25492545 25492546 BGMUT_680 - DQ322275.1(RHCE):c.[..48G>C..] chr1 25462644 25462645 BGMUT_680 - DQ322275.1(RHCE):c.[..712A>G..] chr1 25462623 25462624 BGMUT_680 - DQ322275.1(RHCE):c.[..733C>G..] chr1 25462569 25462570 BGMUT_680 - DQ322275.1(RHCE):c.[..787A>G..] chr1 25462556 25462557 BGMUT_680 - DQ322275.1(RHCE):c.[..800T>A..] chr1 25460805 25460806 BGMUT_680 - DQ322275.1(RHCE):c.[..916A>G..] chr1 25492545 25492546 BGMUT_855 - DQ322275.1(RHCE):c.[..48G>C..] chr1 25462659 25462660 BGMUT_855 - DQ322275.1(RHCE):c.[..697C>G..] chr1 25462623 25462624 BGMUT_855 - DQ322275.1(RHCE):c.[..733C>G..] chr1 25492545 25492546 BGMUT_681 - DQ322275.1(RHCE):c.[..48G>C..] chr1 25462689 25462690 BGMUT_681 - DQ322275.1(RHCE):c.[..667G>T..] chr1 25492545 25492546 BGMUT_848 - DQ322275.1(RHce):c.[..48G>C..] chr1 25463896 25463897 BGMUT_848 - DQ322275.1(RHce):c.[..538G>C..] chr1 25492545 25492546 BGMUT_836 - DQ322275.1(RHCE):c.[..48G>C..] chr1 25492488 25492489 BGMUT_836 - DQ322275.1(RHCE):c.[..105C>T..] chr1 25474523 25474524 BGMUT_836 - DQ322275.1(RHCE):c.[..365C>T..] chr1 25492471 25492472 BGMUT_677 - DQ322275.1(RHCE):c.122A>G chr1 25492487 25492488 BGMUT_674 - DQ322275.1(RHCE):c.106G>A chr1 25462669 25462672 BGMUT_691 - DQ322275.1(RHCE):c.685_687delAGA chr1 25463934 25463935 BGMUT_668 - DQ322275.1(RHCE):c.500T>A chr1 25462659 25462660 BGMUT_671 - DQ322275.1(RHCE):c.[..697C>G..] chr1 25462644 25462645 BGMUT_671 - DQ322275.1(RHCE):c.[..712A>G..] chr1 25463832 25463833 BGMUT_675 - DQ322275.1(RHCE):c.602G>C chr1 25474427 25474428 BGMUT_676 - DQ322275.1(RHCE):c.461G>C chr1 25474523 25474524 BGMUT_777 - DQ322275.1(RHCE):c.365C>T chr1 25463799 25463800 BGMUT_698 - DQ322275.1(RHCE):c.634+1G>T chr1 25492509 25492514 BGMUT_699 - DQ322275.1(RHCE):c.80_84del chr1 25492545 25492546 BGMUT_712 - DQ322275.1(RHCE):c.[..48G>C..] chr1 25480674 25480675 BGMUT_712 - DQ322275.1(RHCE):c.[..150C>T..] chr1 25480646 25480647 BGMUT_712 - DQ322275.1(RHCE):c.[..178C>A..] chr1 25480623 25480624 BGMUT_712 - DQ322275.1(RHCE):c.[..201A>G..] chr1 25480621 25480622 BGMUT_712 - DQ322275.1(RHCE):c.[..203A>G..] chr1 25480517 25480518 BGMUT_712 - DQ322275.1(RHCE):c.[..307C>T..] chr1 25492545 25492546 BGMUT_713 - DQ322275.1(RHCE):c.[..48G>C..] chr1 25480674 25480675 BGMUT_713 - DQ322275.1(RHCE):c.[..150C>T..] chr1 25480646 25480647 BGMUT_713 - DQ322275.1(RHCE):c.[..178C>A..] chr1 25480623 25480624 BGMUT_713 - DQ322275.1(RHCE):c.[..201A>G..] chr1 25480621 25480622 BGMUT_713 - DQ322275.1(RHCE):c.[..203A>G..] chr1 25480517 25480518 BGMUT_713 - DQ322275.1(RHCE):c.[..307C>T..] chr1 25462680 25462681 BGMUT_713 - DQ322275.1(RHCE):c.[..676G>C..] chr1 25462680 25462681 BGMUT_714 - DQ322275.1(RHCE):c.676G>C chr1 25480538 25480539 BGMUT_678 - DQ322275.1(RHce):c.286G>A chr1 25462623 25462624 BGMUT_673 - DQ322275.1(RHCE):c.733C>G chr1 25474530 25474539 BGMUT_696 - DQ322275.1(RHCE):c.350_358del chr1 25373358 25373359 BGMUT_573 + L08429.1(RHD):c.[..667T>G..] chr1 25373388 25373389 BGMUT_573 + L08429.1(RHD):c.[..697G>C..] chr1 25373358 25373359 BGMUT_832 + L08429.1(RHD):c.667T>G chr1 25356555 25356556 BGMUT_896 + L08429.1(RHD):c.325delA chr1 25362495 25362496 BGMUT_596 + L08429.1(RHD):c.384T>C chr1 25373358 25373359 BGMUT_959 + L08429.1(RHD):c.[..667T>G..] chr1 25373367 25373368 BGMUT_959 + L08429.1(RHD):c.[..676G>C..] chr1 25373367 25373368 BGMUT_960 + L08429.1(RHD):c.676G>C chr1 25373375 25373378 BGMUT_868 + L08429.1(RHD):c.684_686delGAG chr1 25373396 25373399 BGMUT_869 + L08429.1(RHD):c.705_707delGAA chr1 25372867 25372868 BGMUT_582 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_582 + L08429.1(RHD):c.[..667T>G..] chr1 25378487 25378488 BGMUT_582 + L08429.1(RHD):c.[..1025T>C..] chr1 25372867 25372868 BGMUT_835 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_835 + L08429.1(RHD):c.[..667T>G..] chr1 25373388 25373389 BGMUT_835 + L08429.1(RHD):c.[..697G>C..] chr1 25378419 25378420 BGMUT_835 + L08429.1(RHD):c.[..957G>A..] chr1 25378487 25378488 BGMUT_835 + L08429.1(RHD):c.[..1025T>C..] chr1 25373388 25373389 BGMUT_633 + L08429.1(RHD):c.[..697G>A..] chr1 25388868 25388869 BGMUT_633 + L08429.1(RHD):c.[..1136C>T..] chr1 25388868 25388869 BGMUT_628 + L08429.1(RHD):c.1136C>T chr1 25372844 25372845 BGMUT_629 + L08429.1(RHD):c.[..579G>A..] chr1 25388868 25388869 BGMUT_629 + L08429.1(RHD):c.[..1136C>T..] chr1 25373380 25373381 BGMUT_630 + L08429.1(RHD):c.[..689G>T..] chr1 25388868 25388869 BGMUT_630 + L08429.1(RHD):c.[..1136C>T..] chr1 25356439 25356440 BGMUT_631 + L08429.1(RHD):c.[..209G>A..] chr1 25378460 25378461 BGMUT_631 + L08429.1(RHD):c.[..998G>A..] chr1 25388868 25388869 BGMUT_631 + L08429.1(RHD):c.[..1136C>T..] chr1 25375161 25375162 BGMUT_632 + L08429.1(RHD):c.[..835G>A..] chr1 25388868 25388869 BGMUT_632 + L08429.1(RHD):c.[..1136C>T..] chr1 25373358 25373359 BGMUT_774 + L08429.1(RHD):c.[..667T>G..] chr1 25373388 25373389 BGMUT_774 + L08429.1(RHD):c.[..697G>C..] chr1 25388868 25388869 BGMUT_774 + L08429.1(RHD):c.[..1136C>T..] chr1 25378460 25378461 BGMUT_779 + L08429.1(RHD):c.[..998G>A..] chr1 25388868 25388869 BGMUT_779 + L08429.1(RHD):c.[..1136C>T..] chr1 25373371 25373372 BGMUT_594 + L08429.1(RHD):c.680T>C chr1 25393763 25393764 BGMUT_657 + L08429.1(RHD):c.1222T>C chr1 25362598 25362599 BGMUT_658 + L08429.1(RHD):c.486+1G>A chr1 25375211 25375212 BGMUT_659 + L08429.1(RHD):c.885G>T chr1 25393769 25393770 BGMUT_660 + L08429.1(RHD):c.[..1227+1G>A..] chr1 25394995 25394996 BGMUT_660 + L08429.1(RHD):c.[..1227+1227G>A..] chr1 25373530 25373531 BGMUT_661 + L08429.1(RHD):c.801+38delCTCT chr1 25400728 25400730 BGMUT_662 + L08429.1(RHD):c.1252_1253insT chr1 25393744 25393745 BGMUT_663 + L08429.1(RHD):c.1203T>A chr1 25344356 25344357 BGMUT_860 + L08429.1(RHD):c.3G>A chr1 25344381 25344382 BGMUT_861 + L08429.1(RHD):c.28C>T chr1 25356481 25356482 BGMUT_863 + L08429.1(RHD):c.251T>C chr1 25344406 25344407 BGMUT_862 + L08429.1(RHD):c.53T>C chr1 25372770 25372771 BGMUT_583 + L08429.1(RHD):c.[..505A>C..] chr1 25372774 25372775 BGMUT_583 + L08429.1(RHD):c.[..509T>G..] chr1 25372779 25372780 BGMUT_583 + L08429.1(RHD):c.[..514A>T..] chr1 25372770 25372771 BGMUT_953 + L08429.1(RHD):c.[..505A>C..] chr1 25372774 25372775 BGMUT_953 + L08429.1(RHD):c.[..509T>G..] chr1 25372779 25372780 BGMUT_953 + L08429.1(RHD):c.[..514A>T..] chr1 25372825 25372826 BGMUT_953 + L08429.1(RHD):c.[..560T>A..] chr1 25372842 25372843 BGMUT_953 + L08429.1(RHD):c.[..577G>A..] chr1 25372859 25372860 BGMUT_953 + L08429.1(RHD):c.[..594A>T..] chr1 25372867 25372868 BGMUT_953 + L08429.1(RHD):c.[..602C>G..] chr1 25372762 25372763 BGMUT_590 + L08429.1(RHD):c.497A>C chr1 25375174 25375175 BGMUT_587 + L08429.1(RHD):c.848C>T chr1 25375180 25375181 BGMUT_588 + L08429.1(RHD):c.854G>A chr1 25375177 25375178 BGMUT_595 + L08429.1(RHD):c.851C>T chr1 25372886 25372887 BGMUT_592 + L08429.1(RHD):c.621G>C chr1 25378525 25378526 BGMUT_591 + L08429.1(RHD):c.1063G>A chr1 25378519 25378520 BGMUT_589 + L08429.1(RHD):c.1057G>A chr1 25373391 25373392 BGMUT_775 + L08429.1(RHD):c.700A>T chr1 25373358 25373359 BGMUT_781 + L08429.1(RHD):c.[..667T>G..] chr1 25373365 25373366 BGMUT_781 + L08429.1(RHD):c.[..674C>T..] chr1 25373327 25373328 BGMUT_773 + L08429.1(RHD):c.636C>T chr1 25373424 25373425 BGMUT_776 + L08429.1(RHD):c.733G>C chr1 25378535 25378536 BGMUT_593 + L08429.1(RHD):c.1073T>C chr1 25378522 25378523 BGMUT_563 + L08429.1(RHD):c.1060G>A chr1 25356416 25356417 BGMUT_567 + L08429.1(RHD):c.[..186G>T..] chr1 25362521 25362522 BGMUT_567 + L08429.1(RHD):c.[..410C>T..] chr1 25362566 25362567 BGMUT_567 + L08429.1(RHD):c.[..455A>C..] chr1 25356416 25356417 BGMUT_568 + L08429.1(RHD):c.[..186G>T..] chr1 25362521 25362522 BGMUT_568 + L08429.1(RHD):c.[..410C>T..] chr1 25362566 25362567 BGMUT_568 + L08429.1(RHD):c.[..455A>C..] chr1 25372867 25372868 BGMUT_568 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_568 + L08429.1(RHD):c.[..667T>G..] chr1 25375145 25375146 BGMUT_568 + L08429.1(RHD):c.[..819G>A..] chr1 25362521 25362522 BGMUT_833 + L08429.1(RHD):c.[..410C>T..] chr1 25362566 25362567 BGMUT_833 + L08429.1(RHD):c.[..455A>C..] chr1 25372867 25372868 BGMUT_833 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_833 + L08429.1(RHD):c.[..667T>G..] chr1 25375145 25375146 BGMUT_833 + L08429.1(RHD):c.[..819G>A..] chr1 25362566 25362567 BGMUT_564 + L08429.1(RHD):c.[..455A>C..] chr1 25372867 25372868 BGMUT_564 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_564 + L08429.1(RHD):c.[..667T>G..] chr1 25356416 25356417 BGMUT_570 + L08429.1(RHD):c.[..186G>T..] chr1 25362566 25362567 BGMUT_570 + L08429.1(RHD):c.[..455A>C..] chr1 25378510 25378511 BGMUT_570 + L08429.1(RHD):c.[..1048G>C..] chr1 25344400 25344401 BGMUT_645 + L08429.1(RHD):c.47G>A chr1 25373326 25373327 BGMUT_646 + L08429.1(RHD):c.635G>T chr1 25388886 25388887 BGMUT_647 + L08429.1(RHD):c.1153+1G>A chr1 25356566 25356567 BGMUT_652 + L08429.1(RHD):c.335+1G>A chr1 25372819 25372820 BGMUT_653 + L08429.1(RHD):c.554G>A chr1 25344474 25344475 BGMUT_637 + L08429.1(RHD):c.121C>T chr1 25372865 25372866 BGMUT_639 + L08429.1(RHD):c.600delG chr1 25356499 25356500 BGMUT_648 + L08429.1(RHD):c.269G>A chr1 25375232 25375234 BGMUT_650 + L08429.1(RHD):c.[..906_907insGGCT..] chr1 25375267 25375268 BGMUT_650 + L08429.1(RHD):c.[..939+2T>A..] chr1 25375259 25375260 BGMUT_651 + L08429.1(RHD):c.933C>A chr1 25373358 25373359 BGMUT_891 + L08429.1(RHD):c.[..667T>G..] chr1 25373367 25373368 BGMUT_891 + L08429.1(RHD):c.[..676G>C..] chr1 25373388 25373389 BGMUT_891 + L08429.1(RHD):c.[..697G>C..] chr1 25373403 25373404 BGMUT_891 + L08429.1(RHD):c.[..712G>A..] chr1 25373424 25373425 BGMUT_891 + L08429.1(RHD):c.[..733G>C..] chr1 25373435 25373436 BGMUT_891 + L08429.1(RHD):c.[..744C>T..] chr1 25373478 25373479 BGMUT_891 + L08429.1(RHD):c.[..787G>A..] chr1 25373491 25373492 BGMUT_891 + L08429.1(RHD):c.[..800A>T..] chr1 25373358 25373359 BGMUT_892 + L08429.1(RHD):c.[..667T>G..] chr1 25373367 25373368 BGMUT_892 + L08429.1(RHD):c.[..676G>C..] chr1 25373388 25373389 BGMUT_892 + L08429.1(RHD):c.[..697G>C..] chr1 25373403 25373404 BGMUT_892 + L08429.1(RHD):c.[..712G>A..] chr1 25373424 25373425 BGMUT_892 + L08429.1(RHD):c.[..733G>C..] chr1 25373435 25373436 BGMUT_892 + L08429.1(RHD):c.[..744C>T..] chr1 25373358 25373359 BGMUT_575 + L08429.1(RHD):c.[..667T>G..] chr1 25373388 25373389 BGMUT_575 + L08429.1(RHD):c.[..697G>C..] chr1 25373403 25373404 BGMUT_575 + L08429.1(RHD):c.[..712G>A..] chr1 25400749 25400750 BGMUT_575 + L08429.1(RHD):c.[..1273G>C..] chr1 25373388 25373389 BGMUT_576 + L08429.1(RHD):c.697G>A chr1 25356559 25356560 BGMUT_580 + L08429.1(RHD):c.329T>C chr1 25356537 25356538 BGMUT_581 + L08429.1(RHD):c.[..307T>C..] chr1 25356559 25356560 BGMUT_581 + L08429.1(RHD):c.[..329T>C..] chr1 25378468 25378469 BGMUT_926 + L08429.1(RHD):c.1006G>C chr1 25388880 25388881 BGMUT_920 + L08429.1(RHD):c.1148T>C chr1 25393760 25393766 BGMUT_922 + L08429.1(RHD):c.1219_1224delTTCTGG chr1 25356514 25356515 BGMUT_928 + L08429.1(RHD):c.284A>G chr1 25356560 25356562 BGMUT_929 + L08429.1(RHD):c.330_331delGT chr1 25372759 25372760 BGMUT_919 + L08429.1(RHD):c.494A>G chr1 25373331 25373332 BGMUT_924 + L08429.1(RHD):c.640C>T chr1 25344418 25344419 BGMUT_927 + L08429.1(RHD):c.65C>A chr1 25373358 25373359 BGMUT_930 + L08429.1(RHD):c.[..667T>G..] chr1 25373388 25373389 BGMUT_930 + L08429.1(RHD):c.[..697G>C..] chr1 25388868 25388869 BGMUT_930 + L08429.1(RHD):c.[..1136C>T..] chr1 25393718 25393719 BGMUT_930 + L08429.1(RHD):c.[..1177T>C..] chr1 25373368 25373369 BGMUT_925 + L08429.1(RHD):c.677C>A chr1 25375135 25375136 BGMUT_602 + L08429.1(RHD):c.809T>G chr1 25344405 25344406 BGMUT_783 + L08429.1(RHD):c.[..52C>G..] chr1 25375135 25375136 BGMUT_783 + L08429.1(RHD):c.[..809T>G..] chr1 25393718 25393719 BGMUT_611 + L08429.1(RHD):c.1177T>C chr1 25375211 25375212 BGMUT_607 + L08429.1(RHD):c.885G>T chr1 25375156 25375157 BGMUT_604 + L08429.1(RHD):c.830G>A chr1 25375152 25375153 BGMUT_603 + L08429.1(RHD):c.826G>C chr1 25372809 25372810 BGMUT_619 + L08429.1(RHD):c.[..544T>A..] chr1 25372859 25372860 BGMUT_619 + L08429.1(RHD):c.[..594A>T..] chr1 25372867 25372868 BGMUT_619 + L08429.1(RHD):c.[..602C>G..] chr1 25375171 25375172 BGMUT_605 + L08429.1(RHD):c.845G>A chr1 25373349 25373350 BGMUT_601 + L08429.1(RHD):c.658T>C chr1 25362451 25362452 BGMUT_617 + L08429.1(RHD):c.340C>T chr1 25372876 25372877 BGMUT_853 + L08429.1(RHD):c.611T>C chr1 25393695 25393696 BGMUT_610 + L08429.1(RHD):c.1154G>A chr1 25400726 25400727 BGMUT_854 + L08429.1(RHD):c.1250T>C chr1 25372899 25372900 BGMUT_620 + L08429.1(RHD):c.634G>T chr1 25378475 25378476 BGMUT_621 + L08429.1(RHD):c.1013T>C chr1 25344379 25344380 BGMUT_622 + L08429.1(RHD):c.26T>A chr1 25356408 25356409 BGMUT_618 + L08429.1(RHD):c.[..178A>T..] chr1 25356433 25356434 BGMUT_618 + L08429.1(RHD):c.[..203G>A..] chr1 25372859 25372860 BGMUT_618 + L08429.1(RHD):c.[..594A>T..] chr1 25373358 25373359 BGMUT_618 + L08429.1(RHD):c.[..667T>G..] chr1 25378487 25378488 BGMUT_618 + L08429.1(RHD):c.[..1025T>G..] chr1 25356350 25356351 BGMUT_618 + L08429.1(RHD):c.[..149-29C>G..] chr1 25356123 25356125 BGMUT_618 + L08429.1(RHD):c.[..149-256_149-255insG..] chr1 25356601 25356602 BGMUT_618 + L08429.1(RHD):c.[..335+36A>G..] chr1 25344361 25344362 BGMUT_598 + L08429.1(RHD):c.8C>G chr1 25344370 25344371 BGMUT_784 + L08429.1(RHD):c.17C>T chr1 25388853 25388854 BGMUT_785 + L08429.1(RHD):c.1121T>A chr1 25362510 25362511 BGMUT_623 + L08429.1(RHD):c.399G>T chr1 25375159 25375160 BGMUT_624 + L08429.1(RHD):c.833G>A chr1 25378477 25378478 BGMUT_625 + L08429.1(RHD):c.1015G>A chr1 25372867 25372868 BGMUT_612 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_612 + L08429.1(RHD):c.[..667T>G..] chr1 25372867 25372868 BGMUT_613 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_613 + L08429.1(RHD):c.[..667T>G..] chr1 25356350 25356351 BGMUT_613 + L08429.1(RHD):c.[..149-29C>G..] chr1 25356123 25356125 BGMUT_613 + L08429.1(RHD):c.[..149-256_149-255insG..] chr1 25393823 25393824 BGMUT_613 + L08429.1(RHD):c.[..1227+55A>G..] chr1 25344401 25344402 BGMUT_614 + L08429.1(RHD):c.[..48G>C..] chr1 25372867 25372868 BGMUT_614 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_614 + L08429.1(RHD):c.[..667T>G..] chr1 25375145 25375146 BGMUT_614 + L08429.1(RHD):c.[..819G>A..] chr1 25372867 25372868 BGMUT_615 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_615 + L08429.1(RHD):c.[..667T>G..] chr1 25378419 25378420 BGMUT_615 + L08429.1(RHD):c.[..957G>A..] chr1 25378487 25378488 BGMUT_615 + L08429.1(RHD):c.[..1025T>C..] chr1 25393767 25393768 BGMUT_782 + L08429.1(RHD):c.1226A>T chr1 25372859 25372860 BGMUT_888 + L08429.1(RHD):c.[..594A>T..] chr1 25372867 25372868 BGMUT_888 + L08429.1(RHD):c.[..602C>G..] chr1 25344445 25344446 BGMUT_889 + L08429.1(RHD):c.92T>C chr1 25373431 25373432 BGMUT_890 + L08429.1(RHD):c.740T>G chr1 25375135 25375136 BGMUT_627 + L08429.1(RHD):c.809T>A chr1 25372785 25372786 BGMUT_626 + L08429.1(RHD):c.520G>A chr1 25372867 25372868 BGMUT_616 + L08429.1(RHD):c.[..602C>G..] chr1 25373358 25373359 BGMUT_616 + L08429.1(RHD):c.[..667T>G..] chr1 25373435 25373436 BGMUT_616 + L08429.1(RHD):c.[..744C>T..] chr1 25378419 25378420 BGMUT_616 + L08429.1(RHD):c.[..957G>A..] chr1 25378487 25378488 BGMUT_616 + L08429.1(RHD):c.[..1025T>C..] chr1 25362557 25362558 BGMUT_600 + L08429.1(RHD):c.446C>A chr1 25344382 25344383 BGMUT_599 + L08429.1(RHD):c.29G>A chr1 25378478 25378479 BGMUT_609 + L08429.1(RHD):c.1016G>A chr1 25375245 25375246 BGMUT_608 + L08429.1(RHD):c.919G>A chr1 25375206 25375207 BGMUT_606 + L08429.1(RHD):c.880G>C chr1 42965614 42965615 BGMUT_754 + AY049028.1(ERMAP):c.169G>A chr1 42965584 42965585 BGMUT_757 + AY049028.1(ERMAP):c.139G>A chr1 42965265 42965266 BGMUT_806 + AY049028.1(ERMAP):c.[..54C>T..] chr1 42965287 42965288 BGMUT_806 + AY049028.1(ERMAP):c.[..76C>T..] chr1 42965548 42965549 BGMUT_806 + AY049028.1(ERMAP):c.[..103G>A..] chr1 42965265 42965266 BGMUT_755 + AY049028.1(ERMAP):c.[..54C>T..] chr1 42965287 42965288 BGMUT_755 + AY049028.1(ERMAP):c.[..76C>T..] chr1 42965752 42965755 BGMUT_755 + AY049028.1(ERMAP):c.[..307_309del..] chr1 42977561 42977562 BGMUT_807 + AY049028.1(ERMAP):c.994C>T chr1 42977561 42977562 BGMUT_809 + AY049028.1(ERMAP):c.[..994C>T..] chr1 42978081 42978082 BGMUT_809 + AY049028.1(ERMAP):c.[..1514C>T..] chr1 42965687 42965688 BGMUT_808 + AY049028.1(ERMAP):c.242G>A chr1 42965623 42965624 BGMUT_756 + AY049028.1(ERMAP):c.178C>G chr19 53898414 53898415 BGMUT_320 + U17894.1(FUT2):c.[..357C>T..] chr19 53898537 53898538 BGMUT_320 + U17894.1(FUT2):c.[..480C>T..] chr19 53898835 53898836 BGMUT_320 + U17894.1(FUT2):c.[..778delC..] chr19 53898414 53898415 BGMUT_812 + U17894.1(FUT2):c.[..357C>T..] chr19 53898742 53898743 BGMUT_812 + U17894.1(FUT2):c.[..685G>A..] chr19 53898457 53898458 BGMUT_813 + U17894.1(FUT2):c.400G>A chr19 53898414 53898415 BGMUT_318 + U17894.1(FUT2):c.[..357C>T..] chr19 53898436 53898437 BGMUT_318 + U17894.1(FUT2):c.[..379C>T..] chr19 53898537 53898538 BGMUT_318 + U17894.1(FUT2):c.[..480C>T..] chr19 53898414 53898415 BGMUT_304 + U17894.1(FUT2):c.357C>T chr19 53898485 53898486 BGMUT_302 + U17894.1(FUT2):c.428G>A chr19 53898628 53898629 BGMUT_308 + U17894.1(FUT2):c.571C>T chr19 53898414 53898415 BGMUT_316 + U17894.1(FUT2):c.357C>T chr19 53898414 53898415 BGMUT_317 + U17894.1(FUT2):c.[..357C>T..] chr19 53898537 53898538 BGMUT_317 + U17894.1(FUT2):c.[..480C>T..] chr19 53898432 53898433 BGMUT_319 + U17894.1(FUT2):c.375A>G chr19 53898414 53898415 BGMUT_322 + U17894.1(FUT2):c.[..357C>T..] chr19 53898442 53898443 BGMUT_322 + U17894.1(FUT2):c.[..385A>T..] chr19 53898442 53898443 BGMUT_321 + U17894.1(FUT2):c.385A>T chr19 53898906 53898907 BGMUT_312 + U17894.1(FUT2):c.849G>A chr19 53898097 53898098 BGMUT_313 + U17894.1(FUT2):c.40A>G chr19 53898097 53898098 BGMUT_315 + U17894.1(FUT2):c.[..40A>G..] chr19 53898538 53898539 BGMUT_315 + U17894.1(FUT2):c.[..481G>A..] chr19 53898457 53898458 BGMUT_323 + U17894.1(FUT2):c.400G>A chr19 53898228 53898229 BGMUT_324 + U17894.1(FUT2):c.[..171A>G..] chr19 53898273 53898274 BGMUT_324 + U17894.1(FUT2):c.[..216C>T..] chr19 53898485 53898486 BGMUT_324 + U17894.1(FUT2):c.[..428G>A..] chr19 53898796 53898797 BGMUT_324 + U17894.1(FUT2):c.[..739G>A..] chr19 53899017 53899018 BGMUT_324 + U17894.1(FUT2):c.[..960A>G..] chr19 53898538 53898539 BGMUT_314 + U17894.1(FUT2):c.481G>A chr19 53898685 53898686 BGMUT_309 + U17894.1(FUT2):c.628C>T chr19 53898414 53898415 BGMUT_325 + U17894.1(FUT2):c.[..357C>T..] chr19 53898628 53898629 BGMUT_325 + U17894.1(FUT2):c.[..571C>T..] chr19 53898432 53898433 BGMUT_326 + U17894.1(FUT2):c.[..375A>G..] chr19 53898721 53898722 BGMUT_326 + U17894.1(FUT2):c.[..664C>T..] chr19 53898745 53898748 BGMUT_330 + U17894.1(FUT2):c.688_690delGTC chr19 53898457 53898458 BGMUT_327 + U17894.1(FUT2):c.[..400G>A..] chr19 53898817 53898818 BGMUT_327 + U17894.1(FUT2):c.[..760G>A..] chr19 53898414 53898415 BGMUT_328 + U17894.1(FUT2):c.[..357C>T..] chr19 53898925 53898926 BGMUT_328 + U17894.1(FUT2):c.[..868G>A..] chr19 53898772 53898774 BGMUT_303 + U17894.1(FUT2):c.715_716del chr19 53898414 53898415 BGMUT_329 + U17894.1(FUT2):c.[..357C>T..] chr19 53898442 53898443 BGMUT_329 + U17894.1(FUT2):c.[..385A>T..] chr15 72494267 72494268 BGMUT_886 - AY885237.1(SEMA7A):c.1059C>T chr15 72493995 72493996 BGMUT_887 - AY885237.1(SEMA7A):c.1239C>T chr15 72491321 72491322 BGMUT_880 - AY885237.1(SEMA7A):c.1379G>A chr15 72491319 72491320 BGMUT_881 - AY885237.1(SEMA7A):c.1381C>T chr15 72497027 72497028 BGMUT_885 - AY885237.1(SEMA7A):c.507C>T chr15 72496770 72496771 BGMUT_883 - AY885237.1(SEMA7A):c.[..619C>T..] chr15 72490981 72490982 BGMUT_883 - AY885237.1(SEMA7A):c.[..1545A>G..] chr15 72496769 72496770 BGMUT_879 - AY885237.1(SEMA7A):c.620G>A chr17 39690619 39690620 BGMUT_196 - M27819.1(SLC4A1):c.1364G>A chr17 39690401 39690402 BGMUT_200 - M27819.1(SLC4A1):c.1468C>T chr17 39690617 39690618 BGMUT_197 - M27819.1(SLC4A1):c.1366delG chr17 39684206 39684207 BGMUT_217 - M27819.1(SLC4A1):c.2501A>C chr17 39686262 39686263 BGMUT_940 - M27819.1(SLC4A1):c.2060T>C chr17 39692210 39692211 BGMUT_191 - M27819.1(SLC4A1):c.722delT chr17 39692078 39692079 BGMUT_193 - M27819.1(SLC4A1):c.854C>A chr17 39688685 39688686 BGMUT_245 - M27819.1(SLC4A1):c.1681C>T chr17 39688659 39688660 BGMUT_239 - M27819.1(SLC4A1):c.1707C>A chr17 39690904 39690905 BGMUT_195 - M27819.1(SLC4A1):c.1257delC chr17 39692055 39692056 BGMUT_190 - M27819.1(SLC4A1):c.876+1G>T chr17 39693609 39693610 BGMUT_182 - M27819.1(SLC4A1):c.268G>A chr17 39684481 39684482 BGMUT_212 - M27819.1(SLC4A1):c.2312G>A chr17 39690407 39690408 BGMUT_199 - M27819.1(SLC4A1):c.1462G>A chr17 39684146 39684147 BGMUT_174 - M27819.1(SLC4A1):c.2561C>T chr17 39690317 39690318 BGMUT_203 - M27819.1(SLC4A1):c.1552C>T chr17 39688600 39688601 BGMUT_224 - M27819.1(SLC4A1):c.1766G>A chr17 39688601 39688602 BGMUT_226 - M27819.1(SLC4A1):c.1765C>A chr17 39688601 39688602 BGMUT_225 - M27819.1(SLC4A1):c.1765C>T chr17 39683354 39683385 BGMUT_227 - M27819.1(SLC4A1):c.2703_2733del chr17 39688152 39688153 BGMUT_228 - M27819.1(SLC4A1):c.1838C>T chr17 39695543 39695544 BGMUT_229 - M27819.1(SLC4A1):c.[..92T>C..] chr17 39694470 39694471 BGMUT_229 - M27819.1(SLC4A1):c.[..166A>G..] chr17 39686220 39686221 BGMUT_229 - M27819.1(SLC4A1):c.[..2102G>A..] chr17 39684134 39684135 BGMUT_230 - M27819.1(SLC4A1):c.2573C>A chr17 39684157 39684158 BGMUT_231 - M27819.1(SLC4A1):c.2550delG chr17 39686220 39686221 BGMUT_232 - M27819.1(SLC4A1):c.2102G>A chr17 39690689 39690690 BGMUT_237 - M27819.1(SLC4A1):c.1294C>T chr17 39690395 39690396 BGMUT_201 - M27819.1(SLC4A1):c.1474delT chr17 39694471 39694472 BGMUT_179 - M27819.1(SLC4A1):c.165delC chr17 39690431 39690432 BGMUT_250 - M27819.1(SLC4A1):c.1438G>A chr17 39693534 39693535 BGMUT_184 - M27819.1(SLC4A1):c.343delAC chr17 39692761 39692763 BGMUT_189 - M27819.1(SLC4A1):c.549_550insA chr17 39693394 39693395 BGMUT_186 - M27819.1(SLC4A1):c.388G>A chr17 39687480 39687481 BGMUT_241 - M27819.1(SLC4A1):c.1966C>T chr17 39687508 39687509 BGMUT_206 - M27819.1(SLC4A1):c.1938delG chr17 39693634 39693635 BGMUT_181 - M27819.1(SLC4A1):c.243G>A chr17 39686209 39686210 BGMUT_938 - M27819.1(SLC4A1):c.2113G>T chr17 39686044 39686045 BGMUT_211 - M27819.1(SLC4A1):c.2278C>T chr17 39684104 39684105 BGMUT_220 - M27819.1(SLC4A1):c.2603C>T chr17 39686121 39686122 BGMUT_939 - M27819.1(SLC4A1):c.2201A>G chr17 39694470 39694471 BGMUT_937 - M27819.1(SLC4A1):c.[..166A>G..] chr17 39690912 39690913 BGMUT_937 - M27819.1(SLC4A1):c.[..1249C>T..] chr17 39686121 39686122 BGMUT_937 - M27819.1(SLC4A1):c.[..2201A>G..] chr17 39684371 39684372 BGMUT_214 - M27819.1(SLC4A1):c.2422C>T chr17 39688670 39688671 BGMUT_247 - M27819.1(SLC4A1):c.1696C>T chr17 39694468 39694469 BGMUT_180 - M27819.1(SLC4A1):c.168delG chr17 39688670 39688671 BGMUT_248 - M27819.1(SLC4A1):c.1696C>G chr17 39694470 39694471 BGMUT_176 - M27819.1(SLC4A1):c.[..166A>G..] chr17 39684146 39684147 BGMUT_176 - M27819.1(SLC4A1):c.[..2561C>T..] chr17 39694470 39694471 BGMUT_175 - M27819.1(SLC4A1):c.166A>G chr17 39690375 39690376 BGMUT_202 - M27819.1(SLC4A1):c.1494dup69 chr17 39687479 39687480 BGMUT_240 - M27819.1(SLC4A1):c.1967G>A chr17 39694518 39694519 BGMUT_178 - M27819.1(SLC4A1):c.118G>A chr17 39686203 39686204 BGMUT_208 - M27819.1(SLC4A1):c.2119C>T chr17 39693294 39693295 BGMUT_185 - M27819.1(SLC4A1):c.485+3C>A chr17 39693576 39693578 BGMUT_183 - M27819.1(SLC4A1):c.300_301insT chr17 39684445 39684446 BGMUT_213 - M27819.1(SLC4A1):c.2348T>A chr17 39684370 39684371 BGMUT_215 - M27819.1(SLC4A1):c.2423G>A chr17 39690696 39690697 BGMUT_246 - M27819.1(SLC4A1):c.[..1287A>T..] chr17 39688685 39688686 BGMUT_246 - M27819.1(SLC4A1):c.[..1681C>G..] chr17 39691405 39691406 BGMUT_194 - M27819.1(SLC4A1):c.988C>T chr17 39686182 39686183 BGMUT_209 - M27819.1(SLC4A1):c.2140G>A chr17 39693334 39693335 BGMUT_187 - M27819.1(SLC4A1):c.448C>T chr17 39687459 39687460 BGMUT_207 - M27819.1(SLC4A1):c.1987del chr17 39684197 39684198 BGMUT_218 - M27819.1(SLC4A1):c.2510C>T chr17 39684329 39684339 BGMUT_216 - M27819.1(SLC4A1):c.2455_2464insCACCCaGATC chr17 39686043 39686044 BGMUT_210 - M27819.1(SLC4A1):c.2279G>A chr17 39684099 39684100 BGMUT_221 - M27819.1(SLC4A1):c.2608C>T chr17 39690242 39690243 BGMUT_198 - M27819.1(SLC4A1):c.1626+1G>A chr17 39692109 39692111 BGMUT_192 - M27819.1(SLC4A1):c.822_823insC chr17 39688723 39688724 BGMUT_235 - M27819.1(SLC4A1):c.1643C>T chr17 39694470 39694471 BGMUT_223 - M27819.1(SLC4A1):c.[..166A>G..] chr17 39690937 39690962 BGMUT_223 - M27819.1(SLC4A1):c.[..1200_1224del..] chr17 39688141 39688143 BGMUT_204 - M27819.1(SLC4A1):c.1848_1849insC chr17 39687509 39687510 BGMUT_243 - M27819.1(SLC4A1):c.1937G>A chr17 39687510 39687511 BGMUT_244 - M27819.1(SLC4A1):c.1936C>T chr17 39684198 39684199 BGMUT_219 - M27819.1(SLC4A1):c.2509A>G chr17 39688713 39688714 BGMUT_249 - M27819.1(SLC4A1):c.1653G>C chr17 39688106 39688107 BGMUT_205 - M27819.1(SLC4A1):c.1884C>A chr17 39694470 39694471 BGMUT_177 - M27819.1(SLC4A1):c.[..166A>G..] chr17 39691413 39691414 BGMUT_177 - M27819.1(SLC4A1):c.[..980C>G..] chr17 39683135 39683136 BGMUT_222 - M27819.1(SLC4A1):c.2952delC chr17 39688703 39688704 BGMUT_242 - M27819.1(SLC4A1):c.1663T>C chr17 39688712 39688713 BGMUT_236 - M27819.1(SLC4A1):c.1654A>C chr17 39688697 39688698 BGMUT_234 - M27819.1(SLC4A1):c.1669G>A chr17 39692800 39692802 BGMUT_188 - M27819.1(SLC4A1):c.510_511insC chr17 39687474 39687475 BGMUT_233 - M27819.1(SLC4A1):c.1972G>A chr17 39688672 39688673 BGMUT_238 - M27819.1(SLC4A1):c.1694G>C chr17 39686131 39686132 BGMUT_936 - M27819.1(SLC4A1):c.2191T>C chr19 53898742 53898743 BGMUT_311 + U17894.1(FUT2):c.685delGT chr2 127130091 127130092 BGMUT_267 + M36284.1(GYPC):c.23A>G chrX 37309895 37309896 BGMUT_752 + Z32684.2(XK):c.391del1 chrX 37343604 37343605 BGMUT_740 + Z32684.2(XK):c.1013delT chrX 37309772 37309773 BGMUT_725 + Z32684.2(XK):c.268delT chrX 37310017 37310018 BGMUT_724 + Z32684.2(XK):c.508+5G>A chrX 37301651 37301652 BGMUT_742 + Z32684.2(XK):c.245+1G>C chrX 37301651 37301652 BGMUT_726 + Z32684.2(XK):c.245+1G>C chrX 37343255 37343256 BGMUT_749 + Z32684.2(XK):c.664C>G chrX 37343486 37343487 BGMUT_748 + Z32684.2(XK):c.895C>T chrX 37343570 37343571 BGMUT_751 + Z32684.2(XK):c.979G>A chrX 37343277 37343279 BGMUT_735 + Z32684.2(XK):c.686_687delTT chrX 37343471 37343472 BGMUT_747 + Z32684.2(XK):c.880T>C chrX 37343532 37343533 BGMUT_750 + Z32684.2(XK):c.941G>A chrX 37343362 37343363 BGMUT_736 + Z32684.2(XK):c.771delG chrX 37343447 37343452 BGMUT_737 + Z32684.2(XK):c.856_860delCTCTA chrX 37343529 37343543 BGMUT_738 + Z32684.2(XK):c.938_951del chrX 37301512 37301513 BGMUT_743 + Z32684.2(XK):c.107G>A chrX 37309901 37309902 BGMUT_744 + Z32684.2(XK):c.397C>T chrX 37309967 37309968 BGMUT_745 + Z32684.2(XK):c.463C>T chrX 37343298 37343299 BGMUT_746 + Z32684.2(XK):c.707G>A chr7 116770688 116770689 CFMDB_911 + CFTR:c.869+11C>T chr7 116770689 116770690 CFMDB_912 + CFTR:c.869+12C>T chr7 116770680 116770681 CFMDB_1386 + CFTR:c.869+3A>T chr7 116774101 116774102 CFMDB_161 + CFTR:c.870-3T>G chr7 116774048 116774049 CFMDB_913 + CFTR:c.870-56C>G chr7 116774097 116774100 CFMDB_1387 + CFTR:g.60131_60133delTTT chr7 116774115 116774117 CFMDB_162 + CFTR:g.60149_60150delAA chr7 116713865 116713866 CFMDB_712 + CFTR:c.-234T>A chr7 116774149 116774150 CFMDB_1011 + CFTR:c.915C>T chr7 116774160 116774161 CFMDB_167 + CFTR:c.926delC chr7 116774180 116774181 CFMDB_172 + CFTR:c.946delT chr7 116714073 116714074 CFMDB_1551 + CFTR:c.-26G>A chr7 116774188 116774189 CFMDB_1367 + CFTR:c.954G>A chr7 116774194 116774195 CFMDB_1173 + CFTR:c.960A>G chr7 116774200 116774201 CFMDB_746 + CFTR:c.966G>A chr7 116774206 116774207 CFMDB_871 + CFTR:c.972C>G chr7 116774214 116774215 CFMDB_825 + CFTR:c.980delT chr7 116774221 116774222 CFMDB_178 + CFTR:c.987delA chr7 116774240 116774242 CFMDB_182 + CFTR:c.1006_1007insG chr7 116774252 116774253 CFMDB_185 + CFTR:c.1018delA chr7 116774253 116774255 CFMDB_1371 + CFTR:c.1019_1020ins12 chr7 116774256 116774258 CFMDB_186 + CFTR:c.1022_1023insTC chr7 116774263 116774264 CFMDB_187 + CFTR:c.1029delC chr7 116774263 116774265 CFMDB_188 + CFTR:c.1029_1030insG chr7 116774266 116774267 CFMDB_1554 + CFTR:c.1032T>A chr7 116774287 116774289 CFMDB_1395 + CFTR:g.60321_60322delTC chr7 116774301 116774302 CFMDB_657 + CFTR:c.1067delG chr7 116714086 116714109 CFMDB_1522 + CFTR:g.120_142del23 chr7 116774315 116774316 CFMDB_198 + CFTR:c.1081delT chr7 116774317 116774318 CFMDB_200 + CFTR:c.1083delG chr7 116774323 116774325 CFMDB_201 + CFTR:g.60357_60358delCT chr7 116774345 116774347 CFMDB_203 + CFTR:c.1111_1112ins6 chr7 116774367 116774368 CFMDB_914 + CFTR:c.1116+17C>T chr7 116774351 116774352 CFMDB_204 + CFTR:c.1116+1G>A chr7 116774351 116774352 CFMDB_1303 + CFTR:c.1116+1G>C chr7 116774402 116774403 CFMDB_592 + CFTR:c.1116+52T>C chr7 116775993 116775995 CFMDB_883 + CFTR:g.62027_62028delTA chr7 116775990 116775992 CFMDB_586 + CFTR:g.62024_62025delAT chr7 116775989 116775990 CFMDB_1611 + CFTR:c.1117-31A>G chr7 116776015 116776016 CFMDB_205 + CFTR:c.1117-5A>G chr7 116775938 116775939 CFMDB_915 + CFTR:c.1117-82C>T chr7 116714090 116714113 CFMDB_1365 + CFTR:g.124_146del23 chr7 116776030 116776032 CFMDB_588 + CFTR:c.1127_1128insA chr7 116714091 116714092 CFMDB_902 + CFTR:c.-8G>C chr7 116776054 116776055 CFMDB_207 + CFTR:c.1151delA chr7 116776059 116776061 CFMDB_1362 + CFTR:c.1156_1157insTA chr7 116776062 116776064 CFMDB_1269 + CFTR:g.62096_62097delTT chr7 116776065 116776072 CFMDB_695 + CFTR:g.62099_62105del7 chr7 116776067 116776068 CFMDB_209 + CFTR:c.1164G>T chr7 116714095 116714096 CFMDB_955 + CFTR:c.-4G>C chr7 116776080 116776081 CFMDB_604 + CFTR:c.1177delG chr7 116776094 116776096 CFMDB_1000 + CFTR:c.1191_1192insA chr7 116776130 116776131 CFMDB_212 + CFTR:c.1209+18A>C chr7 116776113 116776114 CFMDB_618 + CFTR:c.1209+1G>A chr7 116776140 116776141 CFMDB_1451 + CFTR:c.1209+28C>T chr7 116776140 116776141 CFMDB_980 + CFTR:c.1209+28C>T chr7 116776118 116776119 CFMDB_1639 + CFTR:c.1209+6A>G chr7 116776118 116776119 CFMDB_1627 + CFTR:c.1209+6A>G chr7 116776192 116776193 CFMDB_1509 + CFTR:c.1209+80G>A chr7 116776112 116776113 CFMDB_1041 + CFTR:c.1209G>A chr7 116782634 116782637 CFMDB_213 + CFTR:c.1210-11_1210-9delinsG chr7 116782632 116782633 CFMDB_919 + CFTR:c.1210-13G>T chr7 116782644 116782645 CFMDB_873 + CFTR:c.1210-1G>C chr7 116782643 116782644 CFMDB_214 + CFTR:c.1210-2A>C chr7 116782643 116782645 CFMDB_215 + CFTR:g.68677_68678delAG chr7 116714101 116714221 CFMDB_1328 + CFTR:g.135_254delins300 chr7 116782669 116782670 CFMDB_752 + CFTR:c.1234delG chr7 116782670 116782675 CFMDB_985 + CFTR:g.68704_68708del5 chr7 116782670 116782671 CFMDB_1149 + CFTR:c.1235delC chr7 116782732 116782739 CFMDB_1498 + CFTR:g.68766_68772del7 chr7 116782763 116782765 CFMDB_219 + CFTR:g.68797_68798delAT chr7 116782764 116782766 CFMDB_220 + CFTR:c.1329_1330ins4 chr7 116782764 116782765 CFMDB_1568 + CFTR:c.1329T>C chr7 116782774 116782775 CFMDB_1031 + CFTR:c.1339delA chr7 116782800 116782802 CFMDB_1266 + CFTR:g.68834_68835delGG chr7 116782807 116782808 CFMDB_224 + CFTR:c.1372delG chr7 116782828 116782829 CFMDB_1211 + CFTR:c.1392+1G>A chr7 116782887 116782889 CFMDB_1566 + CFTR:c.1392+60_1392+61insA chr7 116782895 116782896 CFMDB_1565 + CFTR:c.1392+68G>A chr7 116782833 116782835 CFMDB_226 + CFTR:c.1392+6_1392+7insC chr7 116793450 116793451 CFMDB_830 + CFTR:c.1393-18G>A chr7 116793467 116793468 CFMDB_227 + CFTR:c.1393-1G>A chr7 116793466 116793467 CFMDB_1304 + CFTR:c.1393-2A>G chr7 116793426 116793427 CFMDB_1510 + CFTR:c.1393-42G>A chr7 116793408 116793409 CFMDB_921 + CFTR:c.1393-60G>A chr7 116793407 116793408 CFMDB_920 + CFTR:c.1393-61A>G chr7 116793474 116793475 CFMDB_751 + CFTR:c.1399C>T chr7 116793483 116793493 CFMDB_978 + CFTR:g.79517_79526del10 chr7 116793491 116793492 CFMDB_692 + CFTR:c.1416delG chr7 116793508 116793509 CFMDB_1574 + CFTR:c.1433delCA chr7 116714122 116714123 CFMDB_876 + CFTR:c.24G>A chr7 116793514 116793515 CFMDB_233 + CFTR:c.1439delG chr7 116793519 116793521 CFMDB_1164 + CFTR:c.1444_1445insT chr7 116793552 116793554 CFMDB_238 + CFTR:g.79586_79587delCA chr7 116793555 116793557 CFMDB_240 + CFTR:g.79589_79590delTT chr7 116714129 116714130 CFMDB_733 + CFTR:c.31G>A chr7 116793593 116793594 CFMDB_869 + CFTR:c.1518C>G chr7 116793594 116793595 CFMDB_1023 + CFTR:c.1519A>G chr7 116793596 116793597 CFMDB_1462 + CFTR:c.1521C>T chr7 116793603 116793604 CFMDB_1610 + CFTR:c.1528delG chr7 116793620 116793622 CFMDB_247 + CFTR:g.79654_79655delTA chr7 116793636 116793637 CFMDB_1206 + CFTR:c.1561A>C chr7 116793649 116793666 CFMDB_252 + CFTR:g.79683_79699del17 chr7 116793656 116793657 CFMDB_1025 + CFTR:c.1581A>G chr7 116793671 116793672 CFMDB_922 + CFTR:c.1584+12T>C chr7 116793672 116793673 CFMDB_923 + CFTR:c.1584+13G>T chr7 116793660 116793661 CFMDB_641 + CFTR:c.1584+1G>A chr7 116793660 116793661 CFMDB_1590 + CFTR:c.1584+1G>T chr7 116793661 116793662 CFMDB_662 + CFTR:c.1584+2T>C chr7 116793663 116793664 CFMDB_1591 + CFTR:c.1584+4A>T chr7 116793722 116793724 CFMDB_896 + CFTR:c.1584+63_1584+64ins11 chr7 116793736 116793737 CFMDB_613 + CFTR:c.1584+77A>G chr7 116793659 116793660 CFMDB_1026 + CFTR:c.1584G>A chr7 116821724 116821725 CFMDB_925 + CFTR:c.1585-19T>C chr7 116821742 116821743 CFMDB_255 + CFTR:c.1585-1G>A chr7 116821741 116821742 CFMDB_254 + CFTR:c.1585-2A>G chr7 116821740 116821741 CFMDB_663 + CFTR:c.1585-3T>G chr7 116821735 116821736 CFMDB_253 + CFTR:c.1585-8G>A chr7 116821734 116821735 CFMDB_1022 + CFTR:c.1585-9T>A chr7 116821768 116821770 CFMDB_831 + CFTR:g.107802_107803delAC chr7 116821775 116821777 CFMDB_1128 + CFTR:c.1617_1618insTA chr7 116714140 116714141 CFMDB_630 + CFTR:c.42delA chr7 116714141 116714142 CFMDB_13 + CFTR:c.43delC chr7 116714141 116714143 CFMDB_14 + CFTR:c.43_44insT chr7 116821790 116821791 CFMDB_1150 + CFTR:c.1632T>G chr7 116821793 116821799 CFMDB_1284 + CFTR:g.107827_107832del6 chr7 116821799 116821800 CFMDB_1027 + CFTR:c.1641A>T chr7 116821800 116821802 CFMDB_260 + CFTR:g.107834_107835delCT chr7 116821808 116821809 CFMDB_267 + CFTR:c.1650delA chr7 116821810 116821811 CFMDB_270 + CFTR:c.1652delG chr7 116821828 116821829 CFMDB_664 + CFTR:c.1670delC chr7 116821832 116821833 CFMDB_277 + CFTR:c.1674delA chr7 116821848 116821849 CFMDB_1287 + CFTR:c.1679+11A>G chr7 116823487 116823488 CFMDB_1532 + CFTR:c.1679+1650T>A chr7 116821853 116821854 CFMDB_1519 + CFTR:c.1679+16T>C chr7 116821855 116821856 CFMDB_282 + CFTR:c.1679+18G>A chr7 116821838 116821839 CFMDB_1505 + CFTR:c.1679+1G>A chr7 116821838 116821839 CFMDB_281 + CFTR:c.1679+1G>C chr7 116821871 116821872 CFMDB_1388 + CFTR:c.1679+34G>A chr7 116821842 116821843 CFMDB_1608 + CFTR:c.1679+5A>G chr7 116824249 116824250 CFMDB_926 + CFTR:c.1680-108T>C chr7 116824356 116824357 CFMDB_284 + CFTR:c.1680-1G>A chr7 116824331 116824332 CFMDB_1363 + CFTR:c.1680-26T>C chr7 116824298 116824299 CFMDB_1088 + CFTR:c.1680-59T>G chr7 116824352 116824353 CFMDB_1575 + CFTR:c.1680-5T>A chr7 116824358 116824360 CFMDB_730 + CFTR:c.1681_1682insC chr7 116714148 116714149 CFMDB_15 + CFTR:c.50delT chr7 116824378 116824379 CFMDB_292 + CFTR:c.1701delT chr7 116714152 116714153 CFMDB_893 + CFTR:c.53+1G>T chr7 116714196 116714197 CFMDB_1032 + CFTR:c.53+45A>G chr7 116714155 116714156 CFMDB_16 + CFTR:c.53+4A>T chr7 116738244 116738245 CFMDB_17 + CFTR:c.54-13C>G chr7 116824415 116824416 CFMDB_1175 + CFTR:c.1738delG chr7 116824416 116824420 CFMDB_305 + CFTR:c.1739_1742insT chr7 116824595 116824596 CFMDB_927 + CFTR:c.1766+152T>A chr7 116824444 116824445 CFMDB_309 + CFTR:c.1766+1G>A chr7 116824444 116824445 CFMDB_311 + CFTR:c.1766+1G>C chr7 116824444 116824445 CFMDB_310 + CFTR:c.1766+1G>T chr7 116824473 116824474 CFMDB_1046 + CFTR:c.1766+30G>A chr7 116824446 116824447 CFMDB_312 + CFTR:c.1766+3A>C chr7 116824446 116824447 CFMDB_313 + CFTR:c.1766+3A>G chr7 116824448 116824449 CFMDB_740 + CFTR:c.1766+5G>A chr7 116824448 116824449 CFMDB_314 + CFTR:c.1766+5G>T chr7 116824516 116824517 CFMDB_315 + CFTR:c.1766+73T>G chr7 116825957 116825959 CFMDB_316 + CFTR:g.111991_111992delGC chr7 116825963 116825970 CFMDB_317 + CFTR:g.111997_112003del7 chr7 116825971 116825972 CFMDB_1593 + CFTR:c.1800delG chr7 116825988 116826072 CFMDB_318 + CFTR:g.112022_112105del84 chr7 116826082 116826083 CFMDB_327 + CFTR:c.1911delG chr7 116826090 116826092 CFMDB_969 + CFTR:g.112124_112125delTT chr7 116826094 116826103 CFMDB_328 + CFTR:g.112128_112136delinsA chr7 116826103 116826104 CFMDB_824 + CFTR:c.1932C>G chr7 116826121 116826122 CFMDB_981 + CFTR:c.1950C>T chr7 116826131 116826132 CFMDB_1030 + CFTR:c.1960A>G chr7 116826144 116826157 CFMDB_1283 + CFTR:c.1973_1985delinsAGAAA chr7 116826147 116826148 CFMDB_1056 + CFTR:c.1976delA chr7 116826152 116826153 CFMDB_330 + CFTR:c.1981delA chr7 116826155 116826159 CFMDB_1093 + CFTR:g.112189_112192delCTAA chr7 116826157 116826161 CFMDB_331 + CFTR:g.112191_112194del4 chr7 116738282 116738283 CFMDB_19 + CFTR:c.79delG chr7 116826180 116826182 CFMDB_334 + CFTR:c.2009_2010insA chr7 116826182 116826183 CFMDB_335 + CFTR:c.2011delT chr7 116826215 116826217 CFMDB_337 + CFTR:c.2044_2045insC chr7 116826222 116826223 CFMDB_338 + CFTR:g.[..112256A>G..] chr7 116826223 116826224 CFMDB_338 + CFTR:g.[..112257delA..] chr7 116826222 116826224 CFMDB_758 + CFTR:g.112256_112257delAA chr7 116826223 116826224 CFMDB_1437 + CFTR:c.2052A>G chr7 116826223 116826224 CFMDB_339 + CFTR:c.2052delA chr7 116826223 116826225 CFMDB_340 + CFTR:c.2052_2053insA chr7 116826224 116826226 CFMDB_1060 + CFTR:c.2053_2054insC chr7 116826232 116826234 CFMDB_1396 + CFTR:c.2061_2062ins4 chr7 116826254 116826256 CFMDB_1180 + CFTR:c.2083_2084insG chr7 116826260 116826262 CFMDB_1594 + CFTR:c.2089_2090insA chr7 116826277 116826278 CFMDB_766 + CFTR:c.2106C>G chr7 116738294 116738295 CFMDB_1001 + CFTR:c.91C>T chr7 116826328 116826335 CFMDB_1333 + CFTR:c.2157_2163delinsGT chr7 116826346 116826348 CFMDB_348 + CFTR:c.2175_2176insA chr7 116738303 116738321 CFMDB_587 + CFTR:g.24337_24354del18 chr7 116826374 116826375 CFMDB_1153 + CFTR:c.2203delA chr7 116826386 116826387 CFMDB_351 + CFTR:c.2215delG chr7 116826411 116826419 CFMDB_352 + CFTR:g.112445_112452del8 chr7 116826416 116826417 CFMDB_715 + CFTR:c.2245C>T chr7 116738308 116738310 CFMDB_24 + CFTR:c.105_106insA chr7 116826445 116826447 CFMDB_1621 + CFTR:g.112479_112480delCC chr7 116826451 116826452 CFMDB_1617 + CFTR:c.2280G>A chr7 116826457 116826458 CFMDB_1390 + CFTR:c.2286_2286delinsT chr7 116738312 116738314 CFMDB_25 + CFTR:g.24346_24347delAT chr7 116826462 116826463 CFMDB_354 + CFTR:c.2291delG chr7 116738315 116738317 CFMDB_703 + CFTR:g.24349_24350delTA chr7 116826495 116826497 CFMDB_1207 + CFTR:g.112529_112530delAC chr7 116826532 116826534 CFMDB_1208 + CFTR:c.2361_2362ins8 chr7 116826561 116826563 CFMDB_359 + CFTR:c.2390_2391insC chr7 116826592 116826593 CFMDB_767 + CFTR:c.2421A>G chr7 116826595 116826597 CFMDB_361 + CFTR:c.2424_2425insAT chr7 116826605 116826607 CFMDB_362 + CFTR:c.2434_2435insT chr7 116826624 116826625 CFMDB_1504 + CFTR:c.2453delT chr7 116826642 116826643 CFMDB_365 + CFTR:c.2471delT chr7 116826675 116826676 CFMDB_811 + CFTR:c.2490+14G>A chr7 116826662 116826663 CFMDB_369 + CFTR:c.2490+1G>A chr7 116826662 116826663 CFMDB_1196 + CFTR:c.2490+1G>T chr7 116826663 116826669 CFMDB_849 + CFTR:g.112697_112702del6 chr7 116826663 116826664 CFMDB_1426 + CFTR:c.2490+2T>C chr7 116828923 116828924 CFMDB_1595 + CFTR:c.2491-11C>T chr7 116828911 116828912 CFMDB_1612 + CFTR:c.2491-23A>G chr7 116828932 116828933 CFMDB_1309 + CFTR:c.2491-2A>G chr7 116828945 116828946 CFMDB_1637 + CFTR:c.2502delT chr7 116828945 116828947 CFMDB_837 + CFTR:c.2502_2503insT chr7 116738334 116738335 CFMDB_1002 + CFTR:c.131A>T chr7 116828951 116828952 CFMDB_879 + CFTR:c.2508delT chr7 116829002 116829003 CFMDB_768 + CFTR:c.2559T>C chr7 116829005 116829006 CFMDB_1181 + CFTR:c.2562delT chr7 116829005 116829006 CFMDB_1114 + CFTR:c.2562T>C chr7 116829005 116829006 CFMDB_769 + CFTR:c.2562T>G chr7 116829014 116829015 CFMDB_759 + CFTR:c.2571G>A chr7 116829022 116829023 CFMDB_375 + CFTR:c.2579delT chr7 116829032 116829043 CFMDB_376 + CFTR:g.115066_115076del11 chr7 116829034 116829036 CFMDB_701 + CFTR:g.115068_115069delTT chr7 116829043 116829045 CFMDB_1081 + CFTR:c.2600_2601insA chr7 116829045 116829046 CFMDB_378 + CFTR:c.2602G>AT chr7 116829047 116829048 CFMDB_770 + CFTR:c.2604A>G chr7 116829058 116829059 CFMDB_1596 + CFTR:c.2615delC chr7 116829064 116829065 CFMDB_671 + CFTR:c.2619+2T>A chr7 116829065 116829066 CFMDB_380 + CFTR:c.2619+3A>G chr7 116829062 116829063 CFMDB_379 + CFTR:c.2619G>A chr7 116836815 116836816 CFMDB_929 + CFTR:c.2620-15C>G chr7 116836813 116836814 CFMDB_1358 + CFTR:c.2620-17G>A chr7 116836829 116836830 CFMDB_1017 + CFTR:c.2620-1G>C chr7 116836829 116836830 CFMDB_382 + CFTR:c.2620-1G>T chr7 116836808 116836809 CFMDB_928 + CFTR:c.2620-22A>G chr7 116836804 116836805 CFMDB_381 + CFTR:c.2620-26A>G chr7 116846010 116855865 CFMDB_1432 + CFTR:g.132044_141898del9855 chr7 116836824 116836825 CFMDB_1311 + CFTR:c.2620-6T>C chr7 116836733 116836734 CFMDB_1310 + CFTR:c.2620-97C>T chr7 116836844 116836852 CFMDB_383 + CFTR:g.122878_122885del8 chr7 116836865 116836881 CFMDB_1478 + CFTR:g.122899_122914del16 chr7 116836869 116836871 CFMDB_835 + CFTR:c.2657+2_2657+3insA chr7 116836899 116836900 CFMDB_930 + CFTR:c.2657+32T>C chr7 116836870 116836871 CFMDB_386 + CFTR:c.2657+3delG chr7 116836872 116836873 CFMDB_387 + CFTR:c.2657+5G>A chr7 116837535 116837536 CFMDB_389 + CFTR:c.2658-1G>C chr7 116837535 116837536 CFMDB_390 + CFTR:c.2658-1G>T chr7 116837515 116837516 CFMDB_932 + CFTR:c.2658-21G>A chr7 116837534 116837535 CFMDB_388 + CFTR:c.2658-2A>G chr7 116738350 116738351 CFMDB_699 + CFTR:c.147A>G chr7 116837557 116837558 CFMDB_1620 + CFTR:c.2679G>T chr7 116837565 116837569 CFMDB_1392 + CFTR:g.123599_123602delins13 chr7 116837585 116837586 CFMDB_771 + CFTR:c.2707T>C chr7 116837590 116837591 CFMDB_976 + CFTR:c.2712A>T chr7 116738355 116738356 CFMDB_32 + CFTR:c.152delA chr7 116837597 116837598 CFMDB_1095 + CFTR:c.2719A>G chr7 116837602 116837603 CFMDB_842 + CFTR:c.2724C>T chr7 116837604 116837605 CFMDB_772 + CFTR:c.2726G>T chr7 116837614 116837615 CFMDB_1564 + CFTR:c.2736G>A chr7 116837615 116837617 CFMDB_394 + CFTR:c.2737_2738insG chr7 116837642 116837644 CFMDB_713 + CFTR:c.2764_2765insAG chr7 116837647 116837648 CFMDB_773 + CFTR:c.2769C>T chr7 116837653 116837655 CFMDB_399 + CFTR:g.123687_123688delTT chr7 116837655 116837656 CFMDB_400 + CFTR:c.2777delT chr7 116837686 116837687 CFMDB_1171 + CFTR:c.2808A>G chr7 116837688 116837690 CFMDB_1067 + CFTR:c.2810_2811insT chr7 116837694 116837696 CFMDB_1018 + CFTR:c.2816_2817delinsC chr7 116738366 116738368 CFMDB_690 + CFTR:c.163_164ins8 chr7 116738379 116738380 CFMDB_35 + CFTR:c.164+12T>C chr7 116738368 116738369 CFMDB_1331 + CFTR:c.164+1G>A chr7 116738368 116738369 CFMDB_33 + CFTR:c.164+1G>C chr7 116738368 116738369 CFMDB_1130 + CFTR:c.164+1G>T chr7 116738395 116738396 CFMDB_1368 + CFTR:c.164+28A>G chr7 116738369 116738370 CFMDB_1336 + CFTR:c.164+2T>A chr7 116738369 116738370 CFMDB_34 + CFTR:c.164+2T>C chr7 116738369 116738370 CFMDB_1401 + CFTR:c.164+2T>G chr7 116738370 116738372 CFMDB_971 + CFTR:c.164+3_164+4insT chr7 116837713 116837714 CFMDB_622 + CFTR:c.2835G>A chr7 116738376 116738377 CFMDB_647 + CFTR:c.164+9A>T chr7 116743028 116743029 CFMDB_1052 + CFTR:c.165-10T>G chr7 116743026 116743028 CFMDB_1187 + CFTR:c.165-12_165-11insA chr7 116743010 116743012 CFMDB_36 + CFTR:c.165-28_165-27insA chr7 116743036 116743037 CFMDB_37 + CFTR:c.165-2A>G chr7 116743035 116743036 CFMDB_850 + CFTR:c.165-3C>A chr7 116743035 116743036 CFMDB_38 + CFTR:c.165-3C>T chr7 116742993 116742994 CFMDB_1626 + CFTR:c.165-45A>G chr7 116742988 116742989 CFMDB_892 + CFTR:c.165-50A>G chr7 116742983 116742984 CFMDB_1343 + CFTR:c.165-55C>T chr7 116742971 116742972 CFMDB_904 + CFTR:c.165-67A>C chr7 116742965 116742966 CFMDB_1555 + CFTR:c.165-73A>G chr7 116837737 116837769 CFMDB_407 + CFTR:g.123771_123802del32 chr7 116837753 116837754 CFMDB_408 + CFTR:c.2875delG chr7 116743041 116743042 CFMDB_39 + CFTR:c.168delA chr7 116837774 116837775 CFMDB_617 + CFTR:c.2896delA chr7 116837776 116837777 CFMDB_774 + CFTR:c.2898G>A chr7 116837809 116837810 CFMDB_1312 + CFTR:c.2908+23T>C chr7 116837788 116837789 CFMDB_643 + CFTR:c.2908+2T>C chr7 116840667 116840674 CFMDB_1219 + CFTR:g.126701_126707del7 chr7 116840663 116840664 CFMDB_1220 + CFTR:c.2909-15T>G chr7 116840677 116840678 CFMDB_410 + CFTR:c.2909-1G>A chr7 116840674 116840675 CFMDB_1330 + CFTR:c.2909-4A>G chr7 116840627 116840628 CFMDB_1563 + CFTR:c.2909-51G>T chr7 116840607 116840608 CFMDB_934 + CFTR:c.2909-71G>C chr7 116840586 116840587 CFMDB_933 + CFTR:c.2909-92G>A chr7 116840678 116840679 CFMDB_411 + CFTR:c.2909delG chr7 116840693 116840695 CFMDB_412 + CFTR:g.126727_126728delGA chr7 116743047 116743051 CFMDB_42 + CFTR:g.29081_29084delTAGA chr7 116743047 116743049 CFMDB_43 + CFTR:c.174_175insA chr7 116840716 116840718 CFMDB_717 + CFTR:g.126750_126751delTT chr7 116840737 116840739 CFMDB_416 + CFTR:c.2968_2969insA chr7 116840955 116840956 CFMDB_1313 + CFTR:c.2988+198G>A chr7 116840758 116840759 CFMDB_419 + CFTR:c.2988+1G>A chr7 116840792 116840793 CFMDB_1645 + CFTR:c.2988+35A>T chr7 116840798 116840799 CFMDB_1344 + CFTR:c.2988+41delA chr7 116840802 116840803 CFMDB_1172 + CFTR:c.2988+45A>G chr7 116840757 116840758 CFMDB_418 + CFTR:c.2988G>A chr7 116844522 116844523 CFMDB_422 + CFTR:c.2989-1G>A chr7 116844521 116844522 CFMDB_421 + CFTR:c.2989-2A>G chr7 116844521 116844522 CFMDB_420 + CFTR:c.2989-2A>T chr7 116844520 116844521 CFMDB_1337 + CFTR:c.2989-3C>G chr7 116846060 116848575 CFMDB_1433 + CFTR:g.132094_134608del2515 chr7 116844528 116844532 CFMDB_853 + CFTR:g.130562_130565del4 chr7 116844531 116844535 CFMDB_423 + CFTR:g.130565_130568del4 chr7 116844532 116844547 CFMDB_1289 + CFTR:g.130566_130580del15 chr7 116844532 116844533 CFMDB_1376 + CFTR:c.2998delA chr7 116844533 116844548 CFMDB_424 + CFTR:g.130567_130581del15 chr7 116844534 116844536 CFMDB_425 + CFTR:g.130568_130569delTG chr7 116844543 116844552 CFMDB_1470 + CFTR:g.130577_130585del9 chr7 116844554 116844555 CFMDB_1262 + CFTR:c.3020delT chr7 116844555 116844556 CFMDB_428 + CFTR:c.3021delT chr7 116844556 116844557 CFMDB_875 + CFTR:c.3022delG chr7 116844573 116844574 CFMDB_1080 + CFTR:c.3039delC chr7 116844573 116844575 CFMDB_429 + CFTR:c.3039_3040insC chr7 116844575 116844577 CFMDB_582 + CFTR:g.130609_130610delAC chr7 116844597 116844603 CFMDB_430 + CFTR:g.130631_130636del6 chr7 116844598 116844652 CFMDB_431 + CFTR:g.130632_130685del54 chr7 116844601 116844607 CFMDB_828 + CFTR:g.130635_130640del6 chr7 116844640 116844641 CFMDB_1469 + CFTR:c.3106delA chr7 116844774 116844775 CFMDB_827 + CFTR:c.3139+101C>G chr7 116844856 116844857 CFMDB_1104 + CFTR:c.3139+183T>G chr7 116844691 116844692 CFMDB_937 + CFTR:c.3139+18C>T chr7 116844674 116844675 CFMDB_434 + CFTR:c.3139+1G>A chr7 116844715 116844716 CFMDB_938 + CFTR:c.3139+42A>T chr7 116844681 116844682 CFMDB_1508 + CFTR:c.3139+8A>G chr7 116844673 116844675 CFMDB_970 + CFTR:g.130707_130708delGG chr7 116845574 116845575 CFMDB_1351 + CFTR:c.3140-11A>G chr7 116845584 116845585 CFMDB_437 + CFTR:c.3140-1G>A chr7 116845559 116845560 CFMDB_435 + CFTR:c.3140-26A>G chr7 116845552 116845553 CFMDB_1089 + CFTR:c.3140-33A>G chr7 116845543 116845544 CFMDB_1562 + CFTR:c.3140-42G>T chr7 116845581 116845582 CFMDB_436 + CFTR:c.3140-4A>G chr7 116845531 116846235 CFMDB_432 + CFTR:g.131565_132268del704 chr7 116845576 116845577 CFMDB_433 + CFTR:c.3140-9A>T chr7 116845606 116845607 CFMDB_440 + CFTR:c.3161delA chr7 116713638 116713639 CFMDB_901 + CFTR:c.-461A>G chr7 116845633 116845635 CFMDB_444 + CFTR:c.3188_3189ins5 chr7 116845646 116845647 CFMDB_779 + CFTR:c.3201C>T chr7 116845649 116845650 CFMDB_780 + CFTR:c.3204C>T chr7 116845672 116845674 CFMDB_458 + CFTR:g.131706_131707delCT chr7 116845697 116845698 CFMDB_781 + CFTR:c.3252A>G chr7 116845709 116845710 CFMDB_1115 + CFTR:c.3264delC chr7 116713934 116713935 CFMDB_3 + CFTR:c.-165G>A chr7 116845726 116845728 CFMDB_1434 + CFTR:c.3281_3282del355_insTGTTAA chr7 116845730 116845731 CFMDB_782 + CFTR:c.3285A>T chr7 116845732 116845733 CFMDB_465 + CFTR:c.3287delT chr7 116845736 116845737 CFMDB_466 + CFTR:c.3291delC chr7 116743086 116743087 CFMDB_1003 + CFTR:c.213T>C chr7 116845784 116845785 CFMDB_783 + CFTR:c.3339T>C chr7 116845790 116845791 CFMDB_1157 + CFTR:c.3345C>A chr7 116743088 116743089 CFMDB_48 + CFTR:c.215delC chr7 116845808 116845809 CFMDB_474 + CFTR:c.3363delA chr7 116845814 116845815 CFMDB_478 + CFTR:c.3367+2T>C chr7 116845849 116845850 CFMDB_940 + CFTR:c.3367+37G>A chr7 116845815 116845816 CFMDB_677 + CFTR:c.3367+3A>G chr7 116845857 116845858 CFMDB_941 + CFTR:c.3367+45T>C chr7 116845818 116845819 CFMDB_476 + CFTR:c.3367+6A>G chr7 116845819 116845820 CFMDB_1316 + CFTR:c.3367+7T>G chr7 116848477 116848478 CFMDB_943 + CFTR:c.3368-140A>C chr7 116848616 116848617 CFMDB_1588 + CFTR:c.3368-1G>A chr7 116848615 116848616 CFMDB_967 + CFTR:c.3368-2A>G chr7 116848573 116848574 CFMDB_693 + CFTR:c.3368-44G>A chr7 116848640 116848641 CFMDB_1055 + CFTR:c.3391A>G chr7 116848649 116848651 CFMDB_881 + CFTR:c.3400_3401delinsGTA chr7 116848673 116848675 CFMDB_483 + CFTR:c.3424_3425insAGTA chr7 116848694 116848695 CFMDB_838 + CFTR:c.3445delT chr7 116743100 116743102 CFMDB_52 + CFTR:c.227_228insT chr7 116848719 116848721 CFMDB_845 + CFTR:c.3468+2_3468+3insT chr7 116848719 116848720 CFMDB_1174 + CFTR:c.3468+2T>C chr7 116848759 116848760 CFMDB_694 + CFTR:c.3468+42G>A chr7 116848722 116848723 CFMDB_488 + CFTR:c.3468+5G>A chr7 116848717 116848718 CFMDB_487 + CFTR:c.3468G>A chr7 116861415 116861416 CFMDB_945 + CFTR:c.3469-111G>C chr7 116861509 116861510 CFMDB_489 + CFTR:c.3469-17T>C chr7 116861506 116861507 CFMDB_608 + CFTR:c.3469-20T>C chr7 116861524 116861525 CFMDB_490 + CFTR:c.3469-2A>G chr7 116861461 116861462 CFMDB_944 + CFTR:c.3469-65C>A chr7 116743101 116743107 CFMDB_1334 + CFTR:c.228_233insT chr7 116743101 116743102 CFMDB_805 + CFTR:c.228delT chr7 116861542 116861543 CFMDB_784 + CFTR:c.3485G>T chr7 116861547 116861549 CFMDB_607 + CFTR:c.3490_3491insT chr7 116861554 116861555 CFMDB_1350 + CFTR:c.3497delT chr7 116861561 116861562 CFMDB_1560 + CFTR:c.3504C>T chr7 116713604 116713605 CFMDB_1053 + CFTR:c.-495C>T chr7 116861584 116861585 CFMDB_495 + CFTR:c.3527delC chr7 116861587 116861588 CFMDB_497 + CFTR:c.3530delA chr7 116861592 116861596 CFMDB_498 + CFTR:g.147626_147629del4 chr7 116861592 116861594 CFMDB_499 + CFTR:c.3535_3536ins4 chr7 116861595 116861596 CFMDB_1050 + CFTR:c.3538delA chr7 116861621 116861622 CFMDB_984 + CFTR:c.3564G>A chr7 116861649 116861650 CFMDB_503 + CFTR:c.3592delG chr7 116861651 116861652 CFMDB_786 + CFTR:c.3594G>T chr7 116861657 116861658 CFMDB_504 + CFTR:g.[..147691delA..] chr7 116861655 116861656 CFMDB_504 + CFTR:g.[..147689A>G..] chr7 116861662 116861663 CFMDB_505 + CFTR:c.3605delA chr7 116861675 116861677 CFMDB_507 + CFTR:g.147709_147710delAG chr7 116861676 116861681 CFMDB_960 + CFTR:c.3619_3623delG chr7 116861705 116861706 CFMDB_1559 + CFTR:c.3648A>C chr7 116861714 116861716 CFMDB_890 + CFTR:c.3657_3658insA chr7 116861716 116861717 CFMDB_787 + CFTR:c.3659C>T chr7 116861716 116861717 CFMDB_510 + CFTR:c.3659delC chr7 116743120 116743123 CFMDB_1335 + CFTR:c.247_249insT chr7 116861748 116861749 CFMDB_1230 + CFTR:c.3691delT chr7 116861746 116861747 CFMDB_511 + CFTR:c.3689delT chr7 116861775 116861776 CFMDB_517 + CFTR:c.3717+1G>A chr7 116861814 116861815 CFMDB_1319 + CFTR:c.3717+40A>G chr7 116861819 116861820 CFMDB_1320 + CFTR:c.3717+45G>A chr7 116861778 116861779 CFMDB_519 + CFTR:c.3717+4A>G chr7 116861779 116861780 CFMDB_847 + CFTR:c.3717+5G>A chr7 116861774 116861775 CFMDB_516 + CFTR:c.3717G>A chr7 116876441 116876442 CFMDB_520 + CFTR:c.3718-1G>A chr7 116876439 116876440 CFMDB_521 + CFTR:c.3718-3T>G chr7 116876401 116876402 CFMDB_1616 + CFTR:c.3718-41G>C chr7 116876363 116876364 CFMDB_741 + CFTR:c.3718-79T>C chr7 116876452 116876454 CFMDB_522 + CFTR:c.3728_3729ins31 chr7 116876459 116876460 CFMDB_788 + CFTR:c.3735A>G chr7 116876468 116876469 CFMDB_808 + CFTR:c.3744delA chr7 116876470 116876471 CFMDB_1040 + CFTR:c.3746delG chr7 116876483 116876484 CFMDB_1615 + CFTR:c.3759G>A chr7 116876490 116876492 CFMDB_532 + CFTR:c.3766_3767insC chr7 116876497 116876499 CFMDB_533 + CFTR:c.3773_3774insT chr7 116876498 116876500 CFMDB_534 + CFTR:c.3774_3775insG chr7 116876514 116876524 CFMDB_606 + CFTR:g.162548_162557delinsC chr7 116876531 116876532 CFMDB_789 + CFTR:c.3807C>T chr7 116876536 116876538 CFMDB_839 + CFTR:g.162570_162571delGT chr7 116743135 116743137 CFMDB_57 + CFTR:g.29169_29170delTT chr7 116876553 116876554 CFMDB_1332 + CFTR:c.3829delA chr7 116876714 116876715 CFMDB_946 + CFTR:c.3873+117T>G chr7 116876718 116876720 CFMDB_947 + CFTR:g.162752_162753delTT chr7 116876598 116876599 CFMDB_545 + CFTR:c.3873+1G>A chr7 116876625 116876627 CFMDB_948 + CFTR:c.3873+28_3873+29insA chr7 116876626 116876627 CFMDB_1321 + CFTR:c.3873+29G>C chr7 116876599 116876600 CFMDB_756 + CFTR:c.3873+2T>C chr7 116876630 116876631 CFMDB_1322 + CFTR:c.3873+33A>G chr7 116886743 116886744 CFMDB_614 + CFTR:c.3874-103delT chr7 116886835 116886836 CFMDB_1628 + CFTR:c.3874-11T>G chr7 116886832 116886833 CFMDB_644 + CFTR:c.3874-14C>G chr7 116886827 116886830 CFMDB_547 + CFTR:g.172861_172863del3 chr7 116886646 116886647 CFMDB_949 + CFTR:c.3874-200G>A chr7 116886800 116886805 CFMDB_1389 + CFTR:g.172834_172838delTATTT chr7 116886842 116886843 CFMDB_681 + CFTR:c.3874-4A>G chr7 116886796 116886797 CFMDB_1557 + CFTR:c.3874-50A>C chr7 116886785 116886799 CFMDB_546 + CFTR:g.172819_172832del14 chr7 116886838 116886839 CFMDB_727 + CFTR:c.3874-8T>A chr7 116886846 116886847 CFMDB_1051 + CFTR:c.3874delA chr7 116886850 116886854 CFMDB_548 + CFTR:g.172884_172887del4 chr7 116886855 116886856 CFMDB_549 + CFTR:c.3883delA chr7 116886856 116886858 CFMDB_550 + CFTR:c.3884_3885insT chr7 116886862 116886864 CFMDB_1417 + CFTR:c.3890_3891insT chr7 116886869 116886870 CFMDB_791 + CFTR:c.3897A>G chr7 116886880 116886881 CFMDB_552 + CFTR:c.3908delA chr7 116886881 116886887 CFMDB_1599 + CFTR:g.172915_172920delinsTGT chr7 116886888 116886890 CFMDB_555 + CFTR:c.3916_3917insCC chr7 116743147 116743148 CFMDB_63 + CFTR:c.273+1G>A chr7 116743149 116743150 CFMDB_64 + CFTR:c.273+3A>C chr7 116743188 116743189 CFMDB_840 + CFTR:c.273+42A>G chr7 116743192 116743193 CFMDB_905 + CFTR:c.273+46T>G chr7 116743150 116743151 CFMDB_65 + CFTR:c.273+4A>G chr7 116764893 116764894 CFMDB_66 + CFTR:c.274-10C>G chr7 116764791 116764792 CFMDB_906 + CFTR:c.274-112T>A chr7 116764890 116764891 CFMDB_1203 + CFTR:c.274-13T>C chr7 116764902 116764903 CFMDB_885 + CFTR:c.274-1G>A chr7 116764902 116764903 CFMDB_69 + CFTR:c.274-1G>C chr7 116764902 116764903 CFMDB_70 + CFTR:c.274-1G>T chr7 116764901 116764902 CFMDB_68 + CFTR:c.274-2A>C chr7 116764901 116764902 CFMDB_631 + CFTR:c.274-2A>G chr7 116764900 116764901 CFMDB_848 + CFTR:c.274-3T>C chr7 116764898 116764899 CFMDB_1403 + CFTR:c.274-5T>G chr7 116764897 116764898 CFMDB_67 + CFTR:c.274-6T>C chr7 116764820 116764821 CFMDB_1065 + CFTR:c.274-83A>G chr7 116886926 116886927 CFMDB_793 + CFTR:c.3954T>C chr7 116886936 116886937 CFMDB_1601 + CFTR:c.3963+1G>C chr7 116886937 116886938 CFMDB_1370 + CFTR:c.3963+2T>A chr7 116886977 116886978 CFMDB_612 + CFTR:c.3963+42T>C chr7 116898691 116898692 CFMDB_1260 + CFTR:c.3964-1G>A chr7 116898409 116898410 CFMDB_950 + CFTR:c.3964-283T>C chr7 116898664 116898665 CFMDB_684 + CFTR:c.3964-28G>A chr7 116898689 116898690 CFMDB_709 + CFTR:c.3964-3C>G chr7 116714006 116714007 CFMDB_1517 + CFTR:c.-93G>C chr7 116898704 116898705 CFMDB_633 + CFTR:c.3976delT chr7 116898710 116898713 CFMDB_560 + CFTR:c.3982_3984delinsTT chr7 116764909 116764916 CFMDB_636 + CFTR:g.50943_50949delinsTA chr7 116898764 116898771 CFMDB_1484 + CFTR:g.184798_184804delCTAAGCC chr7 116898767 116898769 CFMDB_1602 + CFTR:c.4039_4040insA chr7 116898768 116898770 CFMDB_561 + CFTR:g.184802_184803delGC chr7 116898769 116898770 CFMDB_562 + CFTR:c.4041delC chr7 116898799 116898802 CFMDB_1202 + CFTR:c.4071_4073delinsAA chr7 116898805 116898809 CFMDB_1472 + CFTR:c.4077_4080delinsAA chr7 116898814 116898816 CFMDB_565 + CFTR:c.4086_4087insT chr7 116899355 116899356 CFMDB_1037 + CFTR:c.4137-108A>G chr7 116899324 116899325 CFMDB_621 + CFTR:c.4137-139G>A chr7 116899465 116899466 CFMDB_569 + CFTR:c.4139delC chr7 116899466 116899467 CFMDB_1452 + CFTR:c.4140delA chr7 116899473 116899475 CFMDB_570 + CFTR:c.4147_4148insA chr7 116899520 116899522 CFMDB_573 + CFTR:g.185554_185555delTC chr7 116899526 116899528 CFMDB_1111 + CFTR:g.185560_185561delTG chr7 116899550 116899551 CFMDB_794 + CFTR:c.4224G>A chr7 116764932 116764934 CFMDB_76 + CFTR:c.303_304insA chr7 116899578 116899579 CFMDB_917 + CFTR:c.4242+10T>C chr7 116899581 116899582 CFMDB_951 + CFTR:c.4242+13A>G chr7 116899582 116899583 CFMDB_952 + CFTR:c.4242+14A>G chr7 116899569 116899570 CFMDB_576 + CFTR:c.4242+1G>A chr7 116899569 116899570 CFMDB_577 + CFTR:c.4242+1G>T chr7 116901043 116901045 CFMDB_1604 + CFTR:c.4374_4374+1delinsTT chr7 116900897 116900898 CFMDB_953 + CFTR:c.4243-15C>T chr7 116900911 116900912 CFMDB_1038 + CFTR:c.4243-1G>C chr7 116900876 116900877 CFMDB_1204 + CFTR:c.4243-36delT chr7 116900919 116900920 CFMDB_578 + CFTR:c.4250delA chr7 116900941 116900942 CFMDB_795 + CFTR:c.4272C>T chr7 116764938 116764939 CFMDB_78 + CFTR:g.[..50972delA..] chr7 116764983 116764984 CFMDB_78 + CFTR:g.[..51017T>A..] chr7 116900965 116900967 CFMDB_846 + CFTR:c.4296_4297insGA chr7 116764941 116764942 CFMDB_79 + CFTR:c.312delA chr7 116901001 116901002 CFMDB_1556 + CFTR:c.4332C>T chr7 116764948 116764956 CFMDB_735 + CFTR:g.50982_50989del8 chr7 116901058 116901059 CFMDB_796 + CFTR:c.4389G>A chr7 116901094 116901095 CFMDB_1550 + CFTR:c.4425G>A chr7 116901100 116901101 CFMDB_1162 + CFTR:c.4431T>C chr7 116901114 116901115 CFMDB_1324 + CFTR:c.4443+2G>A chr7 116764954 116764957 CFMDB_81 + CFTR:c.325_327delinsG chr7 116764955 116764957 CFMDB_863 + CFTR:g.50989_50990delAT chr7 116764957 116764958 CFMDB_83 + CFTR:c.328delG chr7 116713506 116713507 CFMDB_1410 + CFTR:c.-593A>G chr7 116901192 116901193 CFMDB_1039 + CFTR:c.4523T>G chr7 116764962 116764963 CFMDB_1062 + CFTR:c.333G>A chr7 116764986 116764987 CFMDB_1552 + CFTR:c.357C>T chr7 116764986 116764987 CFMDB_1423 + CFTR:c.357delC chr7 116714014 116714015 CFMDB_1109 + CFTR:c.-85C>G chr7 116764989 116764990 CFMDB_1005 + CFTR:c.360G>A chr7 116765016 116765017 CFMDB_1447 + CFTR:c.387delT chr7 116765022 116765023 CFMDB_857 + CFTR:c.393delT chr7 116765038 116765042 CFMDB_97 + CFTR:g.51072_51075del4 chr7 116765038 116765039 CFMDB_96 + CFTR:c.409delC chr7 116765042 116765043 CFMDB_1006 + CFTR:c.413T>C chr7 116765043 116765045 CFMDB_1118 + CFTR:c.414_415insCTA chr7 116765044 116765046 CFMDB_1589 + CFTR:c.415_416insGA chr7 116765044 116765046 CFMDB_650 + CFTR:c.415_416insTA chr7 116765046 116765047 CFMDB_711 + CFTR:c.417C>T chr7 116765049 116765051 CFMDB_100 + CFTR:c.420_421insA chr7 116765053 116765054 CFMDB_102 + CFTR:c.424delA chr7 116765054 116765055 CFMDB_103 + CFTR:c.425delT chr7 116765062 116765063 CFMDB_600 + CFTR:c.433delC chr7 116765071 116765072 CFMDB_104 + CFTR:c.442delA chr7 116765073 116765075 CFMDB_1295 + CFTR:c.444_445insCTA chr7 116765088 116765106 CFMDB_109 + CFTR:g.51122_51139del18 chr7 116765102 116765104 CFMDB_110 + CFTR:c.473_474insT chr7 116765119 116765120 CFMDB_112 + CFTR:c.489+1G>T chr7 116765120 116765121 CFMDB_113 + CFTR:c.489+2T>C chr7 116765120 116765121 CFMDB_114 + CFTR:c.489+2T>G chr7 116765149 116765150 CFMDB_1061 + CFTR:c.489+31C>G chr7 116765121 116765122 CFMDB_836 + CFTR:c.489+3A>G chr7 116765118 116765119 CFMDB_111 + CFTR:c.489G>A chr7 116768177 116768178 CFMDB_822 + CFTR:c.490-103A>G chr7 116768164 116768165 CFMDB_986 + CFTR:c.490-116A>G chr7 116768128 116768129 CFMDB_988 + CFTR:c.490-152G>C chr7 116768279 116768280 CFMDB_116 + CFTR:c.490-1G>A chr7 116768278 116768279 CFMDB_115 + CFTR:c.490-2A>C chr7 116768278 116768279 CFMDB_1420 + CFTR:c.490-2A>G chr7 116768282 116768283 CFMDB_117 + CFTR:c.492delT chr7 116768315 116768316 CFMDB_122 + CFTR:c.525delA chr7 116768321 116768322 CFMDB_888 + CFTR:c.531delT chr7 116768333 116768337 CFMDB_823 + CFTR:g.54367_54370del4 chr7 116768334 116768335 CFMDB_1008 + CFTR:c.544A>G chr7 116768339 116768340 CFMDB_124 + CFTR:c.549delC chr7 116768370 116768371 CFMDB_130 + CFTR:c.579+1G>T chr7 116768403 116768404 CFMDB_653 + CFTR:c.579+34A>G chr7 116768372 116768373 CFMDB_131 + CFTR:c.579+3A>C chr7 116768372 116768373 CFMDB_132 + CFTR:c.579+3A>G chr7 116768372 116768373 CFMDB_133 + CFTR:c.579+3A>T chr7 116768374 116768375 CFMDB_134 + CFTR:c.579+5G>A chr7 116769251 116769252 CFMDB_135 + CFTR:c.580-1G>T chr7 116769160 116769161 CFMDB_691 + CFTR:c.580-92T>A chr7 116769281 116769282 CFMDB_1009 + CFTR:c.609C>T chr7 116769299 116769300 CFMDB_974 + CFTR:c.627A>G chr7 116769335 116769336 CFMDB_1449 + CFTR:c.663G>A chr7 116713133 116713134 CFMDB_720 + CFTR:c.-966T>G chr7 116769392 116769414 CFMDB_147 + CFTR:g.55426_55447del22 chr7 116769413 116769414 CFMDB_1010 + CFTR:c.741C>T chr7 116769414 116769416 CFMDB_1503 + CFTR:c.742_743insTACA chr7 116769416 116769417 CFMDB_150 + CFTR:c.743+1G>A chr7 116769416 116769417 CFMDB_151 + CFTR:c.743+1G>C chr7 116769455 116769456 CFMDB_909 + CFTR:c.743+40A>G chr7 116770542 116770550 CFMDB_153 + CFTR:g.56576_56583del8 chr7 116770538 116770550 CFMDB_152 + CFTR:g.56572_56583del12 chr7 116770549 116770550 CFMDB_1036 + CFTR:c.744-3C>T chr7 116770544 116770545 CFMDB_1571 + CFTR:c.744-8A>C chr7 116770581 116770582 CFMDB_155 + CFTR:c.773delG chr7 116770611 116770612 CFMDB_968 + CFTR:c.803delA chr7 116770612 116770614 CFMDB_157 + CFTR:g.56646_56647delTA chr7 116713873 116713874 CFMDB_815 + CFTR:c.-226G>T chr7 116770653 116770655 CFMDB_159 + CFTR:c.845_846insA chr7 116770665 116770669 CFMDB_1281 + CFTR:c.857_860insA chr7 116770667 116770672 CFMDB_654 + CFTR:g.56701_56705del5 chr7 116770670 116770679 CFMDB_856 + CFTR:g.56704_56712del9 chr7 116714065 116714066 CFMDB_1107 + CFTR:c.-34C>T chr7 116844551 116844552 CFMDB_427 + CFTR:c.3017C>A chr7 116844559 116844560 CFMDB_1101 + CFTR:c.3025G>A chr7 116844608 116844609 CFMDB_1385 + CFTR:c.3074C>A chr7 116845645 116845646 CFMDB_1200 + CFTR:c.3200C>A chr7 116845645 116845646 CFMDB_1450 + CFTR:c.3200C>G chr7 116845644 116845645 CFMDB_1631 + CFTR:c.3199G>C chr7 116845644 116845645 CFMDB_452 + CFTR:c.3199G>A chr7 116845645 116845646 CFMDB_778 + CFTR:c.3200C>T chr7 116764949 116764950 CFMDB_1629 + CFTR:c.320C>G chr7 116845686 116845687 CFMDB_1212 + CFTR:c.3241G>C chr7 116845704 116845705 CFMDB_1468 + CFTR:c.3259G>C chr7 116848655 116848656 CFMDB_1167 + CFTR:c.3406G>A chr7 116764987 116764988 CFMDB_92 + CFTR:c.358G>A chr7 116764988 116764989 CFMDB_1278 + CFTR:c.359C>T chr7 116898819 116898820 CFMDB_566 + CFTR:c.4091C>T chr7 116765051 116765052 CFMDB_101 + CFTR:c.422C>A chr7 116765092 116765093 CFMDB_843 + CFTR:c.463G>C chr7 116769264 116769265 CFMDB_1068 + CFTR:c.592G>C chr7 116769297 116769298 CFMDB_942 + CFTR:c.625G>T chr7 116769385 116769386 CFMDB_1537 + CFTR:c.713C>T chr7 116774129 116774130 CFMDB_1144 + CFTR:c.895G>A chr7 116774161 116774162 CFMDB_859 + CFTR:c.927C>G chr7 116774160 116774161 CFMDB_166 + CFTR:c.926C>A chr7 116774160 116774161 CFMDB_656 + CFTR:c.926C>G chr7 116774159 116774160 CFMDB_1300 + CFTR:c.925G>A chr7 116774160 116774161 CFMDB_1301 + CFTR:c.926C>T chr7 116774280 116774281 CFMDB_195 + CFTR:c.1046C>T chr7 116776099 116776100 CFMDB_1273 + CFTR:c.1196C>A chr7 116776099 116776100 CFMDB_1083 + CFTR:c.1196C>T chr7 116782799 116782800 CFMDB_222 + CFTR:c.1364C>A chr7 116738340 116738341 CFMDB_29 + CFTR:c.137C>A chr7 116821759 116821760 CFMDB_256 + CFTR:c.1601C>A chr7 116821834 116821835 CFMDB_1191 + CFTR:c.1676C>A chr7 116821833 116821834 CFMDB_278 + CFTR:c.1675G>A chr7 116821834 116821835 CFMDB_1592 + CFTR:c.1676C>T chr7 116824359 116824360 CFMDB_286 + CFTR:c.1682C>A chr7 116824373 116824374 CFMDB_1338 + CFTR:c.1696G>A chr7 116826008 116826009 CFMDB_667 + CFTR:c.1837G>A chr7 116743088 116743089 CFMDB_648 + CFTR:c.215C>A chr7 116743087 116743088 CFMDB_1045 + CFTR:c.214G>A chr7 116826570 116826571 CFMDB_360 + CFTR:c.2399C>G chr7 116837754 116837755 CFMDB_1345 + CFTR:c.2876C>T chr7 116764916 116764917 CFMDB_1134 + CFTR:c.287C>A chr7 116769345 116769346 CFMDB_142 + CFTR:c.673T>C chr7 116769347 116769348 CFMDB_646 + CFTR:c.675T>A chr7 116770636 116770637 CFMDB_158 + CFTR:c.828C>A chr7 116793546 116793547 CFMDB_722 + CFTR:c.1471T>C chr7 116793647 116793648 CFMDB_250 + CFTR:c.1572C>A chr7 116829039 116829040 CFMDB_1436 + CFTR:c.2596T>G chr7 116829039 116829040 CFMDB_1444 + CFTR:c.2596T>A chr7 116829040 116829041 CFMDB_377 + CFTR:c.2597G>A chr7 116764903 116793660 CFMDB_581 + CFTR:g.50937_79693del chr7 116764903 116793660 CFMDB_688 + CFTR:g.50937_79693del chr7 116713967 116901110 CFMDB_1429 + CFTR:g.1_187143del chr7 116828934 116829063 CFMDB_689 + CFTR:g.114968_115096del chr7 116836830 116845813 CFMDB_1369 + CFTR:g.122864_131846del chr7 116836830 116848718 CFMDB_642 + CFTR:g.122864_134751del chr7 116840678 116845813 CFMDB_1106 + CFTR:g.126712_131846del chr7 116845585 116848718 CFMDB_1085 + CFTR:g.131619_134751del chr7 116861526 116861775 CFMDB_1205 + CFTR:g.147560_147808del chr7 116738257 116738368 CFMDB_686 + CFTR:g.24291_24401del chr7 116886846 116886936 CFMDB_1086 + CFTR:g.172880_172969del chr7 116738257 116793660 CFMDB_1105 + CFTR:g.24291_79693del chr7 116738257 116743147 CFMDB_687 + CFTR:g.24291_29180del chr7 116793468 116848718 CFMDB_1607 + CFTR:g.79502_134751dup chr7 116821743 116826662 CFMDB_1606 + CFTR:g.107777_112695dup chr7 116764903 116776113 CFMDB_1407 + CFTR:g.50937_62146dup chr7 116764959 116764960 CFMDB_1097 + CFTR:c.330C>A chr7 116764957 116764958 CFMDB_84 + CFTR:c.328G>C chr7 116764957 116764958 CFMDB_1290 + CFTR:c.328G>A chr7 116764957 116764958 CFMDB_1124 + CFTR:c.328G>T chr7 116848703 116848704 CFMDB_485 + CFTR:c.3454G>C chr7 116848710 116848711 CFMDB_486 + CFTR:c.3461A>G chr7 116861560 116861561 CFMDB_494 + CFTR:c.3503A>G chr7 116876532 116876533 CFMDB_537 + CFTR:c.3808G>A chr7 116876532 116876533 CFMDB_1475 + CFTR:c.3808G>T chr7 116886887 116886888 CFMDB_738 + CFTR:c.3915T>A chr7 116898857 116898858 CFMDB_568 + CFTR:c.4129G>C chr7 116901002 116901003 CFMDB_629 + CFTR:c.4333G>A chr7 116768365 116768366 CFMDB_126 + CFTR:c.575A>G chr7 116768364 116768365 CFMDB_125 + CFTR:c.574G>A chr7 116738309 116738310 CFMDB_1348 + CFTR:c.106G>A chr7 116776022 116776023 CFMDB_1576 + CFTR:c.1119T>G chr7 116782762 116782763 CFMDB_218 + CFTR:c.1327G>T chr7 116738334 116738335 CFMDB_28 + CFTR:c.131A>G chr7 116793613 116793614 CFMDB_818 + CFTR:c.1538A>G chr7 116821744 116821745 CFMDB_1642 + CFTR:c.1586A>G chr7 116821743 116821744 CFMDB_1139 + CFTR:c.1585G>C chr7 116821767 116821770 CFMDB_1291 + CFTR:p.D537E chr7 116824371 116824372 CFMDB_1267 + CFTR:c.1694A>G chr7 116824391 116824392 CFMDB_299 + CFTR:c.1714G>A chr7 116824413 116824414 CFMDB_210 + CFTR:c.1736A>C chr7 116824413 116824414 CFMDB_304 + CFTR:c.1736A>G chr7 116824412 116824413 CFMDB_303 + CFTR:c.1735G>T chr7 116743046 116743047 CFMDB_1119 + CFTR:c.173A>G chr7 116743045 116743046 CFMDB_625 + CFTR:c.172G>A chr7 116826012 116826013 CFMDB_320 + CFTR:c.1841A>G chr7 116826011 116826012 CFMDB_1193 + CFTR:c.1840G>T chr7 116826086 116826087 CFMDB_1270 + CFTR:c.1915G>T chr7 116826122 116826123 CFMDB_1259 + CFTR:c.1951G>C chr7 116826122 116826123 CFMDB_961 + CFTR:c.1951G>A chr7 116826192 116826193 CFMDB_1534 + CFTR:c.2021A>T chr7 116826588 116826589 CFMDB_1585 + CFTR:c.2417A>G chr7 116826654 116826655 CFMDB_1308 + CFTR:c.2483A>G chr7 116828949 116828950 CFMDB_371 + CFTR:c.2506G>T chr7 116837550 116837551 CFMDB_886 + CFTR:c.2672A>G chr7 116837648 116837649 CFMDB_1199 + CFTR:c.2770G>A chr7 116840705 116840706 CFMDB_673 + CFTR:c.2936A>C chr7 116840705 116840706 CFMDB_674 + CFTR:c.2936A>T chr7 116840722 116840723 CFMDB_880 + CFTR:c.2953G>C chr7 116840722 116840723 CFMDB_415 + CFTR:c.2953G>T chr7 116840747 116840748 CFMDB_1634 + CFTR:c.2978A>G chr7 116840746 116840747 CFMDB_417 + CFTR:c.2977G>T chr7 116717060 116772485 CFMDB_1605 + CFTR:c.53+2909_870-1620del chr7 116844523 116845813 CFMDB_1457 + CFTR:g.130557_131846del chr7 116844523 116848718 CFMDB_1456 + CFTR:g.130557_134751del chr7 116898692 116899569 CFMDB_1458 + CFTR:g.184726_185602del chr7 116898692 116901110 CFMDB_1455 + CFTR:g.184726_187143del chr7 116738257 116743147 CFMDB_1460 + CFTR:g.24291_29180del chr7 116764903 116769416 CFMDB_1459 + CFTR:g.50937_55449del chr7 116714151 116714908 CFMDB_1454 + CFTR:g.941_185del chr7 116714907 116738368 CFMDB_1453 + CFTR:g.941_24401del chr7 116768364 116768367 CFMDB_127 + CFTR:p.D192del chr7 116764972 116764975 CFMDB_86 + CFTR:c.343_345del3 chr7 116774169 116774172 CFMDB_168 + CFTR:c.935_937del3 chr7 116793596 116793599 CFMDB_246 + CFTR:c.1521_1523del3 chr7 116793594 116793597 CFMDB_245 + CFTR:c.1519_1521del3 chr7 116876502 116876505 CFMDB_535 + CFTR:p.L1260del chr7 116782795 116782798 CFMDB_221 + CFTR:c.1360_1362del3 chr7 116848668 116848671 CFMDB_482 + CFTR:c.3419_3421del3 chr7 116774250 116774253 CFMDB_1587 + CFTR:c.1016_1018del3 chr7 116793710 116793721 CFMDB_924 + CFTR:g.79744_79754dup chr7 116845755 116845756 CFMDB_473 + CFTR:c.3310G>T chr7 116848620 116848623 CFMDB_804 + CFTR:g.134654_134656delAAG chr7 116764975 116764976 CFMDB_87 + CFTR:c.346G>A chr7 116764975 116764976 CFMDB_1116 + CFTR:c.346G>C chr7 116861740 116861741 CFMDB_1084 + CFTR:c.3683A>G chr7 116886894 116886895 CFMDB_719 + CFTR:c.3922G>T chr7 116886933 116886934 CFMDB_559 + CFTR:c.3961G>C chr7 116898839 116898840 CFMDB_567 + CFTR:c.4111G>T chr7 116899528 116899529 CFMDB_1603 + CFTR:c.4202A>G chr7 116899527 116899528 CFMDB_1514 + CFTR:c.4201G>A chr7 116899527 116899528 CFMDB_854 + CFTR:c.4201G>T chr7 116899551 116899552 CFMDB_1364 + CFTR:c.4225G>A chr7 116899552 116899553 CFMDB_572 + CFTR:c.4226A>T chr7 116900921 116900924 CFMDB_1428 + CFTR:p.E1418X chr7 116901086 116901087 CFMDB_1341 + CFTR:c.4417G>T chr7 116768367 116768368 CFMDB_128 + CFTR:c.577G>A chr7 116768367 116768368 CFMDB_129 + CFTR:c.577G>T chr7 116769322 116769323 CFMDB_844 + CFTR:c.650A>G chr7 116770641 116770644 CFMDB_762 + CFTR:g.56675_56677delAAG chr7 116770645 116770646 CFMDB_1539 + CFTR:c.837A>T chr7 116774108 116774109 CFMDB_655 + CFTR:c.874G>A chr7 116776038 116776039 CFMDB_1225 + CFTR:c.1135G>A chr7 116776038 116776039 CFMDB_1129 + CFTR:c.1135G>T chr7 116776112 116776113 CFMDB_1148 + CFTR:c.1209G>C chr7 116782655 116782656 CFMDB_994 + CFTR:c.1220A>T chr7 116793495 116793496 CFMDB_1189 + CFTR:c.1420G>A chr7 116793510 116793511 CFMDB_1633 + CFTR:c.1435G>T chr7 116793585 116793586 CFMDB_242 + CFTR:c.1510G>C chr7 116793585 116793586 CFMDB_724 + CFTR:c.1510G>T chr7 116793655 116793656 CFMDB_964 + CFTR:c.1580A>G chr7 116793654 116793655 CFMDB_817 + CFTR:c.1579G>C chr7 116793659 116793660 CFMDB_1190 + CFTR:c.1584G>T chr7 116743039 116743040 CFMDB_624 + CFTR:c.166G>A chr7 116824430 116824431 CFMDB_308 + CFTR:c.1753G>T chr7 116824440 116824441 CFMDB_1471 + CFTR:c.1763A>T chr7 116825994 116825995 CFMDB_1257 + CFTR:c.1823A>G chr7 116743051 116743052 CFMDB_1123 + CFTR:c.178G>A chr7 116743051 116743052 CFMDB_44 + CFTR:c.178G>T chr7 116826137 116826138 CFMDB_761 + CFTR:c.1966G>T chr7 116826161 116826162 CFMDB_332 + CFTR:c.1990G>T chr7 116826184 116826188 CFMDB_714 + CFTR:c.2013_2016del chr7 116826245 116826246 CFMDB_342 + CFTR:c.2074G>T chr7 116826344 116826345 CFMDB_799 + CFTR:c.2173G>A chr7 116826359 116826360 CFMDB_349 + CFTR:c.2188G>T chr7 116714117 116714118 CFMDB_1280 + CFTR:c.19G>T chr7 116826635 116826636 CFMDB_363 + CFTR:c.2464G>A chr7 116826635 116826636 CFMDB_364 + CFTR:c.2464G>T chr7 116826638 116826639 CFMDB_800 + CFTR:c.2467G>T chr7 116826647 116826648 CFMDB_366 + CFTR:c.2476G>A chr7 116826650 116826651 CFMDB_367 + CFTR:c.2479G>T chr7 116828934 116828935 CFMDB_370 + CFTR:c.2491G>T chr7 116764903 116764906 CFMDB_1422 + CFTR:p.E92D chr7 116764903 116764904 CFMDB_71 + CFTR:c.274G>A chr7 116764903 116764904 CFMDB_72 + CFTR:c.274G>T chr7 116844581 116844582 CFMDB_1398 + CFTR:c.3047T>C chr7 116845599 116845600 CFMDB_438 + CFTR:c.3154T>G chr7 116845667 116845668 CFMDB_457 + CFTR:c.3222T>A chr7 116861554 116861555 CFMDB_1366 + CFTR:c.3497T>G chr7 116876495 116876496 CFMDB_899 + CFTR:c.3771T>G chr7 116876581 116876582 CFMDB_542 + CFTR:c.3857T>C chr7 116886870 116886871 CFMDB_645 + CFTR:c.3898T>C chr7 116898737 116898738 CFMDB_819 + CFTR:c.4009T>G chr7 116769270 116769271 CFMDB_1224 + CFTR:c.598T>A chr7 116774147 116774148 CFMDB_1516 + CFTR:c.913T>G chr7 116774167 116774168 CFMDB_169 + CFTR:c.933C>G chr7 116774182 116774183 CFMDB_1163 + CFTR:c.948T>G chr7 116793598 116793599 CFMDB_1024 + CFTR:c.1523T>G chr7 116793598 116793599 CFMDB_1138 + CFTR:c.1523T>C chr7 116824436 116824437 CFMDB_1394 + CFTR:c.1759T>A chr7 116826248 116826249 CFMDB_343 + CFTR:c.2077T>C chr7 116826250 116826251 CFMDB_1209 + CFTR:c.2079T>G chr7 116743132 116743133 CFMDB_58 + CFTR:c.259T>C chr7 116837673 116837674 CFMDB_1156 + CFTR:c.2795T>C chr7 116840750 116840751 CFMDB_797 + CFTR:c.2981T>G chr7 116844541 116844542 CFMDB_1166 + CFTR:c.3007G>T chr7 116764936 116764937 CFMDB_77 + CFTR:c.307G>T chr7 116845585 116845586 CFMDB_675 + CFTR:c.3140G>A chr7 116844673 116844674 CFMDB_1314 + CFTR:c.3139G>C chr7 116845626 116845627 CFMDB_443 + CFTR:c.3181G>C chr7 116845650 116845651 CFMDB_453 + CFTR:c.3205G>A chr7 116845812 116845813 CFMDB_475 + CFTR:c.3367G>C chr7 116848629 116848630 CFMDB_477 + CFTR:c.3380G>A chr7 116848638 116848639 CFMDB_1218 + CFTR:c.3389G>C chr7 116861766 116861767 CFMDB_1127 + CFTR:c.3709G>A chr7 116876455 116876456 CFMDB_523 + CFTR:c.3731G>A chr7 116876454 116876455 CFMDB_1481 + CFTR:c.3730G>A chr7 116876455 116876456 CFMDB_524 + CFTR:c.3731G>T chr7 116876463 116876464 CFMDB_599 + CFTR:c.3739G>A chr7 116876463 116876464 CFMDB_1490 + CFTR:c.3739G>C chr7 116876470 116876471 CFMDB_527 + CFTR:c.3746G>A chr7 116876469 116876470 CFMDB_526 + CFTR:c.3745G>A chr7 116765006 116765007 CFMDB_94 + CFTR:c.377G>A chr7 116898774 116898775 CFMDB_563 + CFTR:c.4046G>A chr7 116898773 116898774 CFMDB_998 + CFTR:c.4045G>A chr7 116765074 116765075 CFMDB_106 + CFTR:c.445G>A chr7 116765075 116765076 CFMDB_1521 + CFTR:c.446G>T chr7 116768323 116768324 CFMDB_1441 + CFTR:c.533G>A chr7 116768322 116768323 CFMDB_123 + CFTR:c.532G>A chr7 116769252 116769253 CFMDB_1487 + CFTR:c.580G>A chr7 116769253 116769254 CFMDB_1135 + CFTR:c.581G>T chr7 116769311 116769312 CFMDB_1298 + CFTR:c.639G>T chr7 116769387 116769388 CFMDB_146 + CFTR:c.715G>A chr7 116769393 116769394 CFMDB_635 + CFTR:c.721G>A chr7 116738283 116738284 CFMDB_21 + CFTR:c.80G>A chr7 116738282 116738283 CFMDB_1419 + CFTR:c.79G>A chr7 116738282 116738283 CFMDB_1463 + CFTR:c.79G>C chr7 116738282 116738283 CFMDB_20 + CFTR:c.79G>T chr7 116774175 116774176 CFMDB_171 + CFTR:c.941G>A chr7 116774174 116774175 CFMDB_170 + CFTR:c.940G>C chr7 116774175 116774176 CFMDB_737 + CFTR:c.941G>T chr7 116774222 116774223 CFMDB_179 + CFTR:c.988G>T chr7 116782705 116782706 CFMDB_1087 + CFTR:c.1270G>A chr7 116782808 116782809 CFMDB_225 + CFTR:c.1373G>T chr7 116793513 116793514 CFMDB_231 + CFTR:c.1438G>T chr7 116793514 116793515 CFMDB_232 + CFTR:c.1439G>A chr7 116793515 116793516 CFMDB_1020 + CFTR:c.1440T>C chr7 116793513 116793514 CFMDB_1210 + CFTR:c.1438G>A chr7 116793531 116793532 CFMDB_234 + CFTR:c.1456G>T chr7 116821782 116821783 CFMDB_258 + CFTR:c.1624G>T chr7 116821788 116821789 CFMDB_259 + CFTR:c.1630G>A chr7 116821789 116821790 CFMDB_603 + CFTR:c.1631G>T chr7 116821806 116821807 CFMDB_265 + CFTR:c.1648G>A chr7 116821806 116821807 CFMDB_266 + CFTR:c.1648G>T chr7 116821810 116821811 CFMDB_269 + CFTR:c.1652G>A chr7 116821809 116821810 CFMDB_268 + CFTR:c.1651G>A chr7 116824404 116824405 CFMDB_590 + CFTR:c.1727G>C chr7 116824403 116824404 CFMDB_301 + CFTR:c.1726G>T chr7 116826036 116826037 CFMDB_669 + CFTR:c.1865G>A chr7 116826053 116826054 CFMDB_324 + CFTR:c.1882G>A chr7 116826053 116826054 CFMDB_325 + CFTR:c.1882G>C chr7 116826188 116826189 CFMDB_336 + CFTR:c.2017G>T chr7 116826339 116826340 CFMDB_1306 + CFTR:c.2168G>T chr7 116826404 116826405 CFMDB_1461 + CFTR:c.2233G>T chr7 116743127 116743128 CFMDB_55 + CFTR:c.254G>A chr7 116743127 116743128 CFMDB_56 + CFTR:c.254G>T chr7 116743144 116743145 CFMDB_62 + CFTR:c.271G>A chr7 116840678 116840679 CFMDB_734 + CFTR:c.2909G>A chr7 116837786 116837787 CFMDB_409 + CFTR:c.2908G>C chr7 116837786 116837787 CFMDB_1619 + CFTR:c.2908G>A chr7 116845605 116845606 CFMDB_439 + CFTR:c.3160C>G chr7 116845606 116845607 CFMDB_1523 + CFTR:c.3161A>T chr7 116845606 116845607 CFMDB_1577 + CFTR:c.3161A>G chr7 116845681 116845682 CFMDB_1474 + CFTR:c.3236A>C chr7 116845699 116845700 CFMDB_460 + CFTR:c.3254A>G chr7 116898852 116898853 CFMDB_1491 + CFTR:c.4124A>C chr7 116765045 116765046 CFMDB_1217 + CFTR:c.416A>T chr7 116765045 116765046 CFMDB_98 + CFTR:c.416A>G chr7 116765066 116765067 CFMDB_651 + CFTR:c.437A>G chr7 116769269 116769270 CFMDB_137 + CFTR:c.597T>G chr7 116769268 116769269 CFMDB_1296 + CFTR:c.596A>G chr7 116769267 116769268 CFMDB_136 + CFTR:c.595C>T chr7 116793526 116793527 CFMDB_966 + CFTR:c.1451A>G chr7 116793525 116793526 CFMDB_723 + CFTR:c.1450C>T chr7 116825997 116825998 CFMDB_1536 + CFTR:c.1826A>T chr7 116825997 116825998 CFMDB_754 + CFTR:c.1826A>G chr7 116826030 116826031 CFMDB_323 + CFTR:c.1859A>C chr7 116826031 116826032 CFMDB_668 + CFTR:c.1860T>G chr7 116837693 116837694 CFMDB_402 + CFTR:c.2815C>G chr7 116837694 116837695 CFMDB_707 + CFTR:c.2816A>G chr7 116837724 116837725 CFMDB_1489 + CFTR:c.2846A>T chr7 116837724 116837725 CFMDB_405 + CFTR:c.2846A>G chr7 116837723 116837724 CFMDB_404 + CFTR:c.2845C>T chr7 116844548 116844549 CFMDB_426 + CFTR:c.3014T>G chr7 116844614 116844615 CFMDB_1567 + CFTR:c.3080T>C chr7 116845596 116845597 CFMDB_1397 + CFTR:c.3151A>G chr7 116764943 116764944 CFMDB_1108 + CFTR:c.314T>A chr7 116848664 116848665 CFMDB_481 + CFTR:c.3415A>G chr7 116764984 116764985 CFMDB_1231 + CFTR:c.355A>G chr7 116861746 116861747 CFMDB_728 + CFTR:c.3689T>C chr7 116861757 116861758 CFMDB_628 + CFTR:c.3700A>C chr7 116861757 116861758 CFMDB_512 + CFTR:c.3700A>G chr7 116765003 116765004 CFMDB_882 + CFTR:c.374T>C chr7 116876530 116876531 CFMDB_536 + CFTR:c.3806T>A chr7 116765025 116765026 CFMDB_739 + CFTR:c.396T>G chr7 116898825 116898826 CFMDB_1160 + CFTR:c.4097T>C chr7 116899519 116899520 CFMDB_1479 + CFTR:c.4193T>G chr7 116765072 116765073 CFMDB_601 + CFTR:c.443T>A chr7 116765072 116765073 CFMDB_105 + CFTR:c.443T>C chr7 116768313 116768314 CFMDB_121 + CFTR:c.523A>G chr7 116768320 116768321 CFMDB_652 + CFTR:c.530T>C chr7 116769281 116769282 CFMDB_1438 + CFTR:c.609C>G chr7 116770661 116770662 CFMDB_1506 + CFTR:c.853A>T chr7 116774241 116774242 CFMDB_183 + CFTR:c.1007T>A chr7 116774253 116774254 CFMDB_1302 + CFTR:c.1019T>A chr7 116782766 116782767 CFMDB_995 + CFTR:c.1331T>G chr7 116782766 116782767 CFMDB_1638 + CFTR:c.1331T>C chr7 116793564 116793565 CFMDB_1326 + CFTR:c.1489A>G chr7 116793580 116793581 CFMDB_1223 + CFTR:c.1505T>A chr7 116793580 116793581 CFMDB_726 + CFTR:c.1505T>C chr7 116793591 116793592 CFMDB_851 + CFTR:c.1516A>C chr7 116793592 116793593 CFMDB_243 + CFTR:c.1517T>G chr7 116793592 116793593 CFMDB_244 + CFTR:c.1517T>C chr7 116793591 116793592 CFMDB_1021 + CFTR:c.1516A>G chr7 116821774 116821775 CFMDB_257 + CFTR:c.1616T>C chr7 116821824 116821825 CFMDB_275 + CFTR:c.1666A>G chr7 116824433 116824434 CFMDB_1578 + CFTR:c.1756A>G chr7 116825972 116825973 CFMDB_666 + CFTR:c.1801A>T chr7 116826024 116826025 CFMDB_321 + CFTR:c.1853T>C chr7 116826425 116826428 CFMDB_1425 + CFTR:p.I752S chr7 116826592 116826593 CFMDB_866 + CFTR:c.2421A>G chr7 116826590 116826591 CFMDB_1579 + CFTR:c.2419A>G chr7 116828962 116828963 CFMDB_1541 + CFTR:c.2519T>C chr7 116837632 116837633 CFMDB_1197 + CFTR:c.2754T>G chr7 116840708 116840709 CFMDB_414 + CFTR:c.2939T>A chr7 116840709 116840710 CFMDB_1625 + CFTR:c.2940A>G chr7 116840740 116840741 CFMDB_1100 + CFTR:c.2971A>G chr7 116845624 116845625 CFMDB_442 + CFTR:c.3179A>C chr7 116845684 116845685 CFMDB_1359 + CFTR:c.3239A>G chr7 116764969 116764970 CFMDB_1416 + CFTR:c.340A>T chr7 116861587 116861588 CFMDB_496 + CFTR:c.3530A>G chr7 116861586 116861587 CFMDB_1216 + CFTR:c.3529A>T chr7 116886876 116886879 CFMDB_1427 + CFTR:p.K1302R chr7 116898779 116898780 CFMDB_634 + CFTR:c.4051A>G chr7 116714138 116714139 CFMDB_12 + CFTR:c.40A>T chr7 116765113 116765114 CFMDB_798 + CFTR:c.484A>G chr7 116768286 116768287 CFMDB_119 + CFTR:c.496A>G chr7 116782827 116782828 CFMDB_1373 + CFTR:c.1392G>T chr7 116821764 116821765 CFMDB_1497 + CFTR:c.1606A>T chr7 116825963 116825964 CFMDB_1618 + CFTR:c.1792A>T chr7 116743063 116743064 CFMDB_1355 + CFTR:c.190A>G chr7 116826219 116826220 CFMDB_1102 + CFTR:c.2048A>G chr7 116826233 116826236 CFMDB_1609 + CFTR:p.K688X chr7 116743075 116743076 CFMDB_810 + CFTR:c.202A>G chr7 116743077 116743078 CFMDB_47 + CFTR:c.204A>T chr7 116826299 116826300 CFMDB_345 + CFTR:c.2128A>T chr7 116826316 116826318 CFMDB_346 + CFTR:c.2145_2146delinsGT chr7 116826659 116826660 CFMDB_368 + CFTR:c.2488A>T chr7 116837714 116837715 CFMDB_616 + CFTR:c.2836A>T chr7 116764931 116764932 CFMDB_1352 + CFTR:c.302T>C chr7 116764931 116764932 CFMDB_593 + CFTR:c.302T>G chr7 116764934 116764935 CFMDB_1254 + CFTR:c.305T>C chr7 116764934 116764935 CFMDB_1485 + CFTR:c.305T>G chr7 116845622 116845623 CFMDB_777 + CFTR:c.3177A>G chr7 116845621 116845622 CFMDB_441 + CFTR:c.3176T>G chr7 116845638 116845639 CFMDB_801 + CFTR:c.3193C>T chr7 116845639 116845640 CFMDB_446 + CFTR:c.3194T>C chr7 116845639 116845640 CFMDB_447 + CFTR:c.3194T>G chr7 116845675 116845676 CFMDB_459 + CFTR:c.3230T>C chr7 116845723 116845724 CFMDB_594 + CFTR:c.3278T>C chr7 116845732 116845733 CFMDB_1110 + CFTR:c.3287T>G chr7 116848717 116848718 CFMDB_1640 + CFTR:c.3468G>T chr7 116861737 116861738 CFMDB_812 + CFTR:c.3680T>C chr7 116876485 116876486 CFMDB_529 + CFTR:c.3761T>G chr7 116876503 116876504 CFMDB_1327 + CFTR:c.3779T>G chr7 116765009 116765010 CFMDB_95 + CFTR:c.380T>G chr7 116898699 116898700 CFMDB_1377 + CFTR:c.3971T>C chr7 116898731 116898732 CFMDB_1580 + CFTR:c.4003C>T chr7 116898732 116898733 CFMDB_807 + CFTR:c.4004T>C chr7 116898743 116898744 CFMDB_1201 + CFTR:c.4015C>T chr7 116765039 116765040 CFMDB_611 + CFTR:c.410T>A chr7 116765039 116765040 CFMDB_649 + CFTR:c.410T>C chr7 116765039 116765040 CFMDB_732 + CFTR:c.410T>G chr7 116899489 116899490 CFMDB_685 + CFTR:c.4163T>A chr7 116899488 116899489 CFMDB_1622 + CFTR:c.4162C>G chr7 116899567 116899568 CFMDB_1547 + CFTR:c.4241T>C chr7 116765063 116765064 CFMDB_1473 + CFTR:c.434T>A chr7 116901108 116901109 CFMDB_1542 + CFTR:c.4439T>C chr7 116765105 116765106 CFMDB_1271 + CFTR:c.476T>C chr7 116765105 116765106 CFMDB_1132 + CFTR:c.476T>A chr7 116714142 116714143 CFMDB_1442 + CFTR:c.44T>C chr7 116768284 116768285 CFMDB_118 + CFTR:c.494T>C chr7 116768337 116768338 CFMDB_1466 + CFTR:c.547C>A chr7 116769290 116769291 CFMDB_725 + CFTR:c.618G>T chr7 116769289 116769290 CFMDB_139 + CFTR:c.617T>G chr7 116769301 116769302 CFMDB_1347 + CFTR:c.629T>C chr7 116769325 116769326 CFMDB_585 + CFTR:c.653T>A chr7 116769352 116769353 CFMDB_143 + CFTR:c.680T>G chr7 116738275 116738276 CFMDB_1402 + CFTR:c.72G>C chr7 116774111 116774112 CFMDB_1299 + CFTR:c.877C>A chr7 116774194 116774195 CFMDB_175 + CFTR:c.960A>T chr7 116774192 116774193 CFMDB_174 + CFTR:c.958T>G chr7 116774193 116774194 CFMDB_1228 + CFTR:c.959T>A chr7 116774214 116774215 CFMDB_177 + CFTR:c.980T>G chr7 116774271 116774272 CFMDB_189 + CFTR:c.1037T>C chr7 116774328 116774329 CFMDB_1125 + CFTR:c.1094T>C chr7 116776028 116776029 CFMDB_206 + CFTR:c.1125A>C chr7 116776052 116776053 CFMDB_1147 + CFTR:c.1149G>A chr7 116776051 116776052 CFMDB_710 + CFTR:c.1148T>C chr7 116821801 116821802 CFMDB_1375 + CFTR:c.1643T>A chr7 116821831 116821832 CFMDB_276 + CFTR:c.1673T>C chr7 116824381 116824382 CFMDB_627 + CFTR:c.1704G>T chr7 116824380 116824381 CFMDB_293 + CFTR:c.1703T>A chr7 116824389 116824390 CFMDB_298 + CFTR:c.1712T>C chr7 116825952 116825953 CFMDB_1643 + CFTR:c.1781T>C chr7 116826000 116826001 CFMDB_319 + CFTR:c.1829T>C chr7 116826027 116826028 CFMDB_322 + CFTR:c.1856T>C chr7 116743055 116743056 CFMDB_1465 + CFTR:c.182T>C chr7 116826068 116826069 CFMDB_1520 + CFTR:c.1897C>A chr7 116826069 116826070 CFMDB_326 + CFTR:c.1898T>C chr7 116826078 116826079 CFMDB_962 + CFTR:c.1907T>C chr7 116826327 116826328 CFMDB_347 + CFTR:c.2156T>A chr7 116826366 116826367 CFMDB_350 + CFTR:c.2195T>G chr7 116826658 116826659 CFMDB_1152 + CFTR:c.2487A>G chr7 116829043 116829044 CFMDB_705 + CFTR:c.2600T>A chr7 116743136 116743137 CFMDB_59 + CFTR:c.263T>C chr7 116743136 116743137 CFMDB_60 + CFTR:c.263T>A chr7 116743136 116743137 CFMDB_61 + CFTR:c.263T>G chr7 116743142 116743143 CFMDB_1133 + CFTR:c.269T>C chr7 116837658 116837659 CFMDB_401 + CFTR:c.2780T>C chr7 116837778 116837779 CFMDB_809 + CFTR:c.2900T>C chr7 116840685 116840687 CFMDB_672 + CFTR:c.2916_2917delinsAT chr7 116840687 116840688 CFMDB_1445 + CFTR:c.2918T>A chr7 116840687 116840688 CFMDB_1141 + CFTR:c.2918T>C chr7 116844525 116844526 CFMDB_776 + CFTR:c.2991G>C chr7 116844618 116844619 CFMDB_584 + CFTR:c.3084G>T chr7 116844617 116844618 CFMDB_1169 + CFTR:c.3083T>G chr7 116845747 116845748 CFMDB_471 + CFTR:c.3302T>A chr7 116845747 116845748 CFMDB_472 + CFTR:c.3302T>G chr7 116845759 116845760 CFMDB_1315 + CFTR:c.3314T>G chr7 116848659 116848660 CFMDB_480 + CFTR:c.3410T>G chr7 116848659 116848660 CFMDB_1549 + CFTR:c.3410T>C chr7 116848658 116848659 CFMDB_479 + CFTR:c.3409A>G chr7 116848668 116848669 CFMDB_898 + CFTR:c.3419T>A chr7 116861687 116861688 CFMDB_508 + CFTR:c.3630G>A chr7 116861686 116861687 CFMDB_1399 + CFTR:c.3629T>A chr7 116899546 116899547 CFMDB_1378 + CFTR:c.4220T>C chr7 116765083 116765084 CFMDB_1524 + CFTR:c.454A>T chr7 116765084 116765085 CFMDB_979 + CFTR:c.455T>G chr7 116765083 116765084 CFMDB_108 + CFTR:c.454A>G chr7 116714101 116714102 CFMDB_7 + CFTR:c.3G>A chr7 116714101 116714102 CFMDB_8 + CFTR:c.3G>T chr7 116714100 116714101 CFMDB_6 + CFTR:c.2T>A chr7 116714100 116714101 CFMDB_1186 + CFTR:c.2T>C chr7 116714099 116714100 CFMDB_5 + CFTR:c.1A>G chr7 116769399 116769400 CFMDB_1013 + CFTR:c.727A>C chr7 116769403 116769404 CFMDB_148 + CFTR:c.731T>A chr7 116770602 116770603 CFMDB_156 + CFTR:c.794T>G chr7 116770650 116770651 CFMDB_1272 + CFTR:c.842T>C chr7 116774277 116774278 CFMDB_194 + CFTR:c.1043T>A chr7 116774277 116774278 CFMDB_1545 + CFTR:c.1043T>C chr7 116774276 116774277 CFMDB_1467 + CFTR:c.1042A>G chr7 116776084 116776085 CFMDB_1137 + CFTR:c.1181T>G chr7 116793480 116793483 CFMDB_1349 + CFTR:p.M469V chr7 116793483 116793484 CFMDB_1019 + CFTR:c.1408A>G chr7 116793569 116793570 CFMDB_1486 + CFTR:c.1494G>C chr7 116825956 116825957 CFMDB_1632 + CFTR:c.1785G>A chr7 116825955 116825956 CFMDB_1493 + CFTR:c.1784T>C chr7 116743117 116743118 CFMDB_1548 + CFTR:c.244A>G chr7 116837734 116837735 CFMDB_406 + CFTR:c.2856G>C chr7 116837733 116837734 CFMDB_1058 + CFTR:c.2855T>C chr7 116837761 116837762 CFMDB_1131 + CFTR:c.2883G>T chr7 116845707 116845708 CFMDB_855 + CFTR:c.3262A>G chr7 116764967 116764968 CFMDB_1630 + CFTR:c.338A>T chr7 116848693 116848694 CFMDB_1126 + CFTR:c.3444C>A chr7 116848692 116848693 CFMDB_1374 + CFTR:c.3443A>G chr7 116861640 116861643 CFMDB_1288 + CFTR:p.N1195T chr7 116886879 116886880 CFMDB_551 + CFTR:c.3907A>C chr7 116886880 116886881 CFMDB_553 + CFTR:c.3908A>T chr7 116886881 116886882 CFMDB_554 + CFTR:c.3909C>G chr7 116900965 116900966 CFMDB_700 + CFTR:c.4296C>G chr7 116768348 116768349 CFMDB_878 + CFTR:c.558C>A chr7 116768351 116768352 CFMDB_987 + CFTR:c.561C>A chr7 116768357 116768358 CFMDB_1482 + CFTR:c.567C>A chr7 116768356 116768357 CFMDB_1525 + CFTR:c.566A>G chr7 116770667 116770668 CFMDB_591 + CFTR:c.859A>T chr7 116782682 116782683 CFMDB_1538 + CFTR:c.1247A>G chr7 116782688 116782689 CFMDB_217 + CFTR:c.1253A>G chr7 116743070 116743071 CFMDB_45 + CFTR:c.197A>G chr7 116826517 116826518 CFMDB_1195 + CFTR:c.2346C>A chr7 116837577 116837578 CFMDB_1155 + CFTR:c.2699A>C chr7 116844572 116844573 CFMDB_1372 + CFTR:c.3038C>A chr7 116844572 116844573 CFMDB_583 + CFTR:c.3038C>T chr7 116844595 116844596 CFMDB_1263 + CFTR:c.3061C>G chr7 116844595 116844596 CFMDB_736 + CFTR:c.3061C>T chr7 116845660 116845661 CFMDB_963 + CFTR:c.3215C>T chr7 116764960 116764961 CFMDB_696 + CFTR:c.331C>G chr7 116764961 116764962 CFMDB_85 + CFTR:c.332C>T chr7 116876594 116876595 CFMDB_790 + CFTR:c.3870A>G chr7 116876592 116876593 CFMDB_1513 + CFTR:c.3868C>T chr7 116876592 116876593 CFMDB_1584 + CFTR:c.3868C>A chr7 116886890 116886891 CFMDB_792 + CFTR:c.3918C>T chr7 116898843 116898844 CFMDB_1507 + CFTR:c.4115C>T chr7 116898842 116898843 CFMDB_1353 + CFTR:c.4114C>A chr7 116765048 116765049 CFMDB_802 + CFTR:c.419C>T chr7 116765047 116765048 CFMDB_99 + CFTR:c.418C>T chr7 116769286 116769287 CFMDB_1297 + CFTR:c.614C>G chr7 116769285 116769286 CFMDB_138 + CFTR:c.613C>T chr7 116774297 116774298 CFMDB_1535 + CFTR:c.1063C>T chr7 116782750 116782751 CFMDB_1501 + CFTR:c.1315C>T chr7 116793570 116793571 CFMDB_661 + CFTR:c.1495C>G chr7 116824398 116824399 CFMDB_300 + CFTR:c.1721C>A chr7 116824397 116824398 CFMDB_1492 + CFTR:c.1720C>T chr7 116714112 116714113 CFMDB_11 + CFTR:c.14C>T chr7 116743073 116743074 CFMDB_46 + CFTR:c.200C>T chr7 116826420 116826421 CFMDB_1103 + CFTR:c.2249C>T chr7 116828965 116828966 CFMDB_1253 + CFTR:c.2522C>G chr7 116764925 116764926 CFMDB_75 + CFTR:c.296C>T chr7 116844637 116844638 CFMDB_1409 + CFTR:c.3103C>T chr7 116844658 116844659 CFMDB_1142 + CFTR:c.3124C>T chr7 116845658 116845659 CFMDB_1120 + CFTR:c.3213G>T chr7 116845657 116845658 CFMDB_456 + CFTR:c.3212A>C chr7 116845656 116845657 CFMDB_1357 + CFTR:c.3211C>T chr7 116845744 116845745 CFMDB_470 + CFTR:c.3299A>C chr7 116848679 116848680 CFMDB_484 + CFTR:c.3430C>T chr7 116861615 116861616 CFMDB_785 + CFTR:c.3558A>G chr7 116861613 116861614 CFMDB_602 + CFTR:c.3556C>T chr7 116861770 116861771 CFMDB_515 + CFTR:c.3713A>G chr7 116861769 116861770 CFMDB_514 + CFTR:c.3712C>T chr7 116876527 116876528 CFMDB_1623 + CFTR:c.3803A>G chr7 116876565 116876566 CFMDB_680 + CFTR:c.3841C>T chr7 116876597 116876598 CFMDB_544 + CFTR:c.3873G>C chr7 116876596 116876597 CFMDB_543 + CFTR:c.3872A>G chr7 116876595 116876596 CFMDB_1098 + CFTR:c.3871C>T chr7 116886899 116886900 CFMDB_1600 + CFTR:c.3927G>T chr7 116886909 116886910 CFMDB_683 + CFTR:c.3937C>A chr7 116886909 116886910 CFMDB_557 + CFTR:c.3937C>T chr7 116898782 116898783 CFMDB_1586 + CFTR:c.4054C>G chr7 116898784 116898785 CFMDB_564 + CFTR:c.4056G>C chr7 116898784 116898785 CFMDB_1446 + CFTR:c.4056G>T chr7 116899470 116899471 CFMDB_959 + CFTR:c.4144C>T chr7 116899557 116899558 CFMDB_574 + CFTR:c.4231C>T chr7 116899560 116899561 CFMDB_575 + CFTR:c.4234C>T chr7 116901058 116901059 CFMDB_1543 + CFTR:c.4389G>T chr7 116901095 116901096 CFMDB_1034 + CFTR:c.4426C>T chr7 116765080 116765083 CFMDB_1424 + CFTR:p.Q151K chr7 116765080 116765081 CFMDB_107 + CFTR:c.451C>T chr7 116768325 116768326 CFMDB_1079 + CFTR:c.535C>A chr7 116769291 116769292 CFMDB_140 + CFTR:c.619C>T chr7 116769331 116769332 CFMDB_894 + CFTR:c.659A>G chr7 116769330 116769331 CFMDB_141 + CFTR:c.658C>T chr7 116769381 116769382 CFMDB_145 + CFTR:c.709C>G chr7 116770676 116770677 CFMDB_160 + CFTR:c.868C>T chr7 116714102 116714103 CFMDB_9 + CFTR:c.[..4C>T..] chr7 116714105 116714106 CFMDB_9 + CFTR:c.[..7A>T..] chr7 116738291 116738292 CFMDB_22 + CFTR:c.88C>T chr7 116774293 116774294 CFMDB_865 + CFTR:c.1059A>C chr7 116774291 116774292 CFMDB_1099 + CFTR:c.1057C>T chr7 116774309 116774310 CFMDB_197 + CFTR:c.[..1075C>A..] chr7 116774313 116774314 CFMDB_197 + CFTR:c.[..1079C>A..] chr7 116774310 116774311 CFMDB_1146 + CFTR:c.1076A>G chr7 116776036 116776037 CFMDB_1261 + CFTR:c.1133A>G chr7 116738318 116738319 CFMDB_26 + CFTR:c.115C>T chr7 116782675 116782676 CFMDB_216 + CFTR:c.1240C>T chr7 116782790 116782791 CFMDB_841 + CFTR:c.1355A>C chr7 116793553 116793554 CFMDB_1256 + CFTR:c.1478A>C chr7 116793553 116793554 CFMDB_239 + CFTR:c.1478A>G chr7 116793552 116793553 CFMDB_237 + CFTR:c.1477C>T chr7 116793648 116793649 CFMDB_251 + CFTR:c.1573C>T chr7 116821812 116821813 CFMDB_596 + CFTR:c.1654C>A chr7 116821812 116821813 CFMDB_271 + CFTR:c.1654C>T chr7 116826071 116826072 CFMDB_637 + CFTR:c.1900C>T chr7 116826080 116826081 CFMDB_1044 + CFTR:c.1909C>T chr7 116826224 116826225 CFMDB_341 + CFTR:c.2053C>T chr7 116826236 116826237 CFMDB_1339 + CFTR:c.2065C>T chr7 116826329 116826330 CFMDB_1048 + CFTR:c.2158C>T chr7 116826512 116826513 CFMDB_745 + CFTR:c.2341C>T chr7 116837547 116837548 CFMDB_973 + CFTR:c.2669A>G chr7 116837546 116837547 CFMDB_391 + CFTR:c.2668C>T chr7 116764922 116764923 CFMDB_1214 + CFTR:c.293A>C chr7 116764922 116764923 CFMDB_74 + CFTR:c.293A>G chr7 116764921 116764922 CFMDB_73 + CFTR:c.292C>T chr7 116845587 116845588 CFMDB_1540 + CFTR:c.3142A>G chr7 116845641 116845642 CFMDB_448 + CFTR:c.3196C>T chr7 116845642 116845643 CFMDB_450 + CFTR:c.3197G>A chr7 116845642 116845643 CFMDB_451 + CFTR:c.3197G>T chr7 116845641 116845642 CFMDB_449 + CFTR:c.3196C>A chr7 116845654 116845655 CFMDB_589 + CFTR:c.3209G>C chr7 116845654 116845655 CFMDB_455 + CFTR:c.3209G>A chr7 116845653 116845654 CFMDB_454 + CFTR:c.3208C>T chr7 116845749 116845750 CFMDB_1435 + CFTR:c.3304A>T chr7 116848631 116848632 CFMDB_678 + CFTR:c.3382A>T chr7 116861529 116861530 CFMDB_491 + CFTR:c.3472C>T chr7 116861541 116861542 CFMDB_493 + CFTR:c.3484C>T chr7 116764978 116764979 CFMDB_88 + CFTR:c.349C>T chr7 116764978 116764979 CFMDB_1464 + CFTR:c.349C>G chr7 116764979 116764980 CFMDB_89 + CFTR:c.350G>A chr7 116764979 116764980 CFMDB_91 + CFTR:c.350G>T chr7 116764979 116764980 CFMDB_90 + CFTR:c.350G>C chr7 116876572 116876573 CFMDB_540 + CFTR:c.3848G>A chr7 116876572 116876573 CFMDB_541 + CFTR:c.3848G>T chr7 116898802 116898803 CFMDB_1159 + CFTR:c.4074A>T chr7 116900933 116900934 CFMDB_814 + CFTR:c.4264C>T chr7 116900981 116900982 CFMDB_1406 + CFTR:c.4312C>T chr7 116901026 116901027 CFMDB_1014 + CFTR:c.4357C>T chr7 116768298 116768299 CFMDB_120 + CFTR:c.508C>T chr7 116768298 116768299 CFMDB_868 + CFTR:c.508C>G chr7 116768299 116768300 CFMDB_1183 + CFTR:c.509G>A chr7 116769415 116769416 CFMDB_820 + CFTR:c.743G>C chr7 116770580 116770581 CFMDB_154 + CFTR:c.772A>G chr7 116774124 116774125 CFMDB_163 + CFTR:c.890G>A chr7 116774123 116774124 CFMDB_749 + CFTR:c.889C>T chr7 116738294 116738295 CFMDB_860 + CFTR:c.91C>T chr7 116738295 116738296 CFMDB_23 + CFTR:c.92G>T chr7 116774235 116774236 CFMDB_632 + CFTR:c.1001G>T chr7 116774235 116774236 CFMDB_181 + CFTR:c.1001G>A chr7 116774234 116774235 CFMDB_180 + CFTR:c.1000C>T chr7 116774273 116774274 CFMDB_190 + CFTR:c.1039C>T chr7 116774274 116774275 CFMDB_191 + CFTR:c.1040G>A chr7 116774274 116774275 CFMDB_192 + CFTR:c.1040G>T chr7 116774274 116774275 CFMDB_193 + CFTR:c.1040G>C chr7 116774288 116774289 CFMDB_1346 + CFTR:c.1054C>G chr7 116774289 116774290 CFMDB_196 + CFTR:c.1055G>A chr7 116774288 116774289 CFMDB_605 + CFTR:c.1054C>T chr7 116793621 116793622 CFMDB_1268 + CFTR:c.1546A>G chr7 116821815 116821816 CFMDB_272 + CFTR:c.1657C>G chr7 116821816 116821817 CFMDB_274 + CFTR:c.1658G>A chr7 116821815 116821816 CFMDB_273 + CFTR:c.1657C>T chr7 116821821 116821822 CFMDB_991 + CFTR:c.1663A>G chr7 116738367 116738368 CFMDB_1494 + CFTR:c.164G>A chr7 116821836 116821837 CFMDB_1274 + CFTR:c.1678A>G chr7 116821837 116821838 CFMDB_279 + CFTR:c.1679G>A chr7 116824357 116824358 CFMDB_285 + CFTR:c.1680A>C chr7 116821837 116821838 CFMDB_280 + CFTR:c.1679G>C chr7 116825969 116825970 CFMDB_753 + CFTR:c.1798A>G chr7 116826173 116826174 CFMDB_764 + CFTR:c.2002C>T chr7 116826297 116826298 CFMDB_1285 + CFTR:c.2126G>A chr7 116826296 116826297 CFMDB_344 + CFTR:c.2125C>T chr7 116826375 116826376 CFMDB_1222 + CFTR:c.2204G>A chr7 116743094 116743095 CFMDB_1082 + CFTR:c.221G>A chr7 116743093 116743094 CFMDB_49 + CFTR:c.220C>T chr7 116826423 116826424 CFMDB_1307 + CFTR:c.2252G>C chr7 116743097 116743098 CFMDB_51 + CFTR:c.224G>T chr7 116743097 116743098 CFMDB_1004 + CFTR:c.224G>A chr7 116743096 116743097 CFMDB_50 + CFTR:c.223C>T chr7 116826461 116826462 CFMDB_353 + CFTR:c.2290C>T chr7 116826468 116826469 CFMDB_355 + CFTR:c.2297G>T chr7 116826524 116826525 CFMDB_356 + CFTR:c.2353C>T chr7 116826545 116826546 CFMDB_358 + CFTR:c.2374C>G chr7 116826545 116826546 CFMDB_357 + CFTR:c.2374C>T chr7 116826599 116826600 CFMDB_1221 + CFTR:c.2428A>G chr7 116828995 116828996 CFMDB_670 + CFTR:c.2552G>T chr7 116828994 116828995 CFMDB_374 + CFTR:c.2551C>T chr7 116837675 116837676 CFMDB_1340 + CFTR:c.2797A>G chr7 116837677 116837678 CFMDB_619 + CFTR:c.2799A>T chr7 116764952 116764953 CFMDB_80 + CFTR:c.323C>T chr7 116714126 116714127 CFMDB_872 + CFTR:c.28A>C chr7 116845798 116845799 CFMDB_993 + CFTR:c.3353C>G chr7 116845798 116845799 CFMDB_897 + CFTR:c.3353C>T chr7 116861533 116861534 CFMDB_1158 + CFTR:c.3476C>T chr7 116861532 116861533 CFMDB_492 + CFTR:c.3475T>C chr7 116861538 116861541 CFMDB_1317 + CFTR:p.S1161R chr7 116861644 116861645 CFMDB_502 + CFTR:c.3587C>G chr7 116861674 116861675 CFMDB_623 + CFTR:c.3617C>G chr7 116861674 116861675 CFMDB_1440 + CFTR:c.3617C>A chr7 116861762 116861763 CFMDB_513 + CFTR:c.3705T>G chr7 116876476 116876477 CFMDB_528 + CFTR:c.3752G>A chr7 116876488 116876489 CFMDB_698 + CFTR:c.3764C>T chr7 116876487 116876488 CFMDB_530 + CFTR:c.3763T>C chr7 116876488 116876489 CFMDB_531 + CFTR:c.[..3764C>A..] chr7 116861664 116861665 CFMDB_531 + CFTR:c.[..3607A>G..] chr7 116886903 116886906 CFMDB_1323 + CFTR:p.S1311R chr7 116714136 116714137 CFMDB_640 + CFTR:c.38C>T chr7 116900946 116900947 CFMDB_1276 + CFTR:c.4277C>T chr7 116900945 116900946 CFMDB_1161 + CFTR:c.4276T>C chr7 116901033 116901034 CFMDB_579 + CFTR:c.4364C>G chr7 116765102 116765103 CFMDB_1644 + CFTR:c.473G>A chr7 116765101 116765102 CFMDB_1188 + CFTR:c.472A>C chr7 116765102 116765103 CFMDB_1613 + CFTR:c.473G>C chr7 116714150 116714151 CFMDB_1512 + CFTR:c.52A>G chr7 116774154 116774155 CFMDB_832 + CFTR:c.920G>A chr7 116774172 116774173 CFMDB_1483 + CFTR:c.938C>A chr7 116774195 116774196 CFMDB_1405 + CFTR:c.961T>C chr7 116774255 116774256 CFMDB_1477 + CFTR:c.1021T>C chr7 116774324 116774325 CFMDB_202 + CFTR:c.1090T>C chr7 116738328 116738329 CFMDB_27 + CFTR:c.125C>T chr7 116782726 116782727 CFMDB_1546 + CFTR:c.1291A>G chr7 116782736 116782737 CFMDB_813 + CFTR:c.1301C>G chr7 116793472 116793473 CFMDB_228 + CFTR:c.1397C>T chr7 116793472 116793473 CFMDB_230 + CFTR:c.1397C>A chr7 116793472 116793473 CFMDB_229 + CFTR:c.1397C>G chr7 116793528 116793529 CFMDB_1047 + CFTR:c.1453A>T chr7 116793541 116793542 CFMDB_235 + CFTR:c.1466C>A chr7 116793550 116793551 CFMDB_236 + CFTR:c.1475C>T chr7 116714109 116714110 CFMDB_10 + CFTR:c.11C>A chr7 116738351 116738352 CFMDB_874 + CFTR:c.148T>C chr7 116738352 116738353 CFMDB_31 + CFTR:c.149C>A chr7 116793630 116793631 CFMDB_1226 + CFTR:c.1555A>G chr7 116821804 116821805 CFMDB_263 + CFTR:c.1646G>T chr7 116821804 116821805 CFMDB_262 + CFTR:c.1646G>A chr7 116821803 116821804 CFMDB_261 + CFTR:c.1645A>C chr7 116821805 116821806 CFMDB_264 + CFTR:c.1647T>G chr7 116824395 116824396 CFMDB_1499 + CFTR:c.1718C>G chr7 116824443 116824444 CFMDB_1059 + CFTR:c.1766G>T chr7 116824443 116824444 CFMDB_665 + CFTR:c.1766G>A chr7 116826149 116826150 CFMDB_1544 + CFTR:c.1978T>A chr7 116826228 116826229 CFMDB_1526 + CFTR:c.2057C>A chr7 116826306 116826307 CFMDB_1305 + CFTR:c.2135C>G chr7 116826381 116826382 CFMDB_1391 + CFTR:c.2210C>T chr7 116826381 116826382 CFMDB_1393 + CFTR:c.2210C>T chr7 116826498 116826499 CFMDB_757 + CFTR:c.2327C>G chr7 116826608 116826609 CFMDB_1265 + CFTR:c.2437T>C chr7 116837562 116837563 CFMDB_1154 + CFTR:c.2684G>C chr7 116837584 116837585 CFMDB_1227 + CFTR:c.2706C>G chr7 116837609 116837612 CFMDB_1293 + CFTR:p.S911R chr7 116837613 116837614 CFMDB_392 + CFTR:c.2735C>T chr7 116837613 116837614 CFMDB_393 + CFTR:c.2735C>A chr7 116837712 116837713 CFMDB_403 + CFTR:c.2834C>T chr7 116840699 116840700 CFMDB_743 + CFTR:c.2930C>T chr7 116840698 116840699 CFMDB_413 + CFTR:c.2929T>C chr7 116845603 116845604 CFMDB_977 + CFTR:c.3158C>T chr7 116845614 116845615 CFMDB_676 + CFTR:c.3169A>G chr7 116845701 116845702 CFMDB_1354 + CFTR:c.3256A>G chr7 116845702 116845703 CFMDB_461 + CFTR:c.3257C>T chr7 116848674 116848675 CFMDB_1170 + CFTR:c.3425C>T chr7 116876461 116876462 CFMDB_525 + CFTR:c.3737C>T chr7 116876478 116876479 CFMDB_609 + CFTR:c.3754A>C chr7 116876511 116876512 CFMDB_1582 + CFTR:c.3787A>G chr7 116876512 116876513 CFMDB_1404 + CFTR:c.3788C>T chr7 116886868 116886869 CFMDB_682 + CFTR:c.3896C>T chr7 116774246 116774247 CFMDB_1496 + CFTR:c.1012A>G chr7 116774247 116774248 CFMDB_184 + CFTR:c.1013C>T chr7 116774286 116774287 CFMDB_864 + CFTR:c.1052C>G chr7 116774313 116774314 CFMDB_704 + CFTR:c.1079C>G chr7 116776066 116776067 CFMDB_658 + CFTR:c.1163C>T chr7 116776065 116776068 CFMDB_208 + CFTR:p.T388X chr7 116793576 116793577 CFMDB_982 + CFTR:c.1501A>G chr7 116824422 116824423 CFMDB_306 + CFTR:c.1745C>T chr7 116824422 116824423 CFMDB_307 + CFTR:c.1745C>G chr7 116824421 116824422 CFMDB_1292 + CFTR:c.1744A>T chr7 116825968 116825969 CFMDB_1151 + CFTR:c.1797T>A chr7 116825982 116825983 CFMDB_1192 + CFTR:c.1811C>T chr7 116825982 116825983 CFMDB_1502 + CFTR:c.1811C>G chr7 116826164 116826165 CFMDB_333 + CFTR:c.1993A>T chr7 116826450 116826451 CFMDB_1049 + CFTR:c.2279C>T chr7 116826534 116826535 CFMDB_1581 + CFTR:c.2363C>T chr7 116837565 116837566 CFMDB_1168 + CFTR:c.2687C>T chr7 116837601 116837602 CFMDB_706 + CFTR:c.2723C>A chr7 116844557 116844558 CFMDB_763 + CFTR:c.3023T>A chr7 116844593 116844594 CFMDB_1598 + CFTR:c.3059T>A chr7 116845767 116845768 CFMDB_1515 + CFTR:c.3322G>C chr7 116848688 116848689 CFMDB_834 + CFTR:c.3439G>A chr7 116848707 116848708 CFMDB_679 + CFTR:c.3458T>A chr7 116861626 116861627 CFMDB_501 + CFTR:c.3569T>A chr7 116861691 116861692 CFMDB_509 + CFTR:c.3634G>A chr7 116876443 116876444 CFMDB_1054 + CFTR:c.3719T>G chr7 116886849 116886850 CFMDB_744 + CFTR:c.3877G>A chr7 116886925 116886926 CFMDB_903 + CFTR:c.3953T>C chr7 116899516 116899517 CFMDB_571 + CFTR:c.4190T>A chr7 116769273 116769274 CFMDB_1136 + CFTR:c.601G>A chr7 116769367 116769368 CFMDB_144 + CFTR:c.695T>A chr7 116774184 116774185 CFMDB_173 + CFTR:c.950T>C chr7 116774199 116774200 CFMDB_176 + CFTR:c.965T>C chr7 116774198 116774199 CFMDB_870 + CFTR:c.964G>A chr7 116776078 116776079 CFMDB_659 + CFTR:c.1175T>C chr7 116776078 116776079 CFMDB_816 + CFTR:c.1175T>G chr7 116782802 116782803 CFMDB_1184 + CFTR:c.1367T>C chr7 116782801 116782802 CFMDB_223 + CFTR:c.1366G>T chr7 116793633 116793634 CFMDB_248 + CFTR:c.1558G>T chr7 116793633 116793634 CFMDB_249 + CFTR:c.1558G>A chr7 116824361 116824362 CFMDB_287 + CFTR:c.1684G>A chr7 116824361 116824362 CFMDB_288 + CFTR:c.1684G>C chr7 116825978 116825979 CFMDB_852 + CFTR:c.1807G>T chr7 116826431 116826432 CFMDB_610 + CFTR:c.2260G>A chr7 116829006 116829007 CFMDB_954 + CFTR:c.2563G>A chr7 116837636 116837637 CFMDB_1198 + CFTR:c.2758G>T chr7 116837636 116837637 CFMDB_398 + CFTR:c.2758G>A chr7 116837642 116837643 CFMDB_1360 + CFTR:c.2764G>C chr7 116837691 116837692 CFMDB_620 + CFTR:c.2813T>G chr7 116837690 116837691 CFMDB_1443 + CFTR:c.2812G>C chr7 116845634 116845635 CFMDB_445 + CFTR:c.3189G>A chr7 116845711 116845712 CFMDB_462 + CFTR:c.3266G>A chr7 116845738 116845739 CFMDB_1641 + CFTR:c.3293G>T chr7 116845737 116845738 CFMDB_467 + CFTR:c.3292T>C chr7 116845738 116845739 CFMDB_468 + CFTR:c.3293G>A chr7 116845739 116845740 CFMDB_638 + CFTR:c.3294G>A chr7 116848684 116848685 CFMDB_1117 + CFTR:c.3435G>A chr7 116861668 116861669 CFMDB_506 + CFTR:c.3611G>A chr7 116861669 116861670 CFMDB_1511 + CFTR:c.3612G>A chr7 116876546 116876547 CFMDB_989 + CFTR:c.3822G>A chr7 116876570 116876571 CFMDB_708 + CFTR:c.3846G>T chr7 116876568 116876569 CFMDB_597 + CFTR:c.3844T>G chr7 116876568 116876569 CFMDB_538 + CFTR:c.3844T>C chr7 116876570 116876571 CFMDB_539 + CFTR:c.3846G>A chr7 116886901 116886902 CFMDB_556 + CFTR:c.3929G>A chr7 116886919 116886920 CFMDB_558 + CFTR:c.3947G>A chr7 116738260 116738261 CFMDB_18 + CFTR:c.57G>T chr7 116738260 116738261 CFMDB_702 + CFTR:c.57G>A chr7 116769278 116769279 CFMDB_1277 + CFTR:c.606G>A chr7 116769319 116769320 CFMDB_997 + CFTR:c.647G>A chr7 116770637 116770638 CFMDB_1418 + CFTR:c.829T>A chr7 116774301 116774302 CFMDB_1408 + CFTR:c.1067G>C chr7 116774302 116774303 CFMDB_803 + CFTR:c.1068G>A chr7 116774315 116774316 CFMDB_1042 + CFTR:c.1081T>A chr7 116774315 116774316 CFMDB_199 + CFTR:c.1081T>C chr7 116776105 116776106 CFMDB_718 + CFTR:c.1202G>A chr7 116776106 116776107 CFMDB_211 + CFTR:c.1203G>A chr7 116793562 116793563 CFMDB_241 + CFTR:c.1487G>A chr7 116743042 116743043 CFMDB_40 + CFTR:c.169T>G chr7 116743042 116743043 CFMDB_731 + CFTR:c.169T>C chr7 116743043 116743044 CFMDB_41 + CFTR:c.170G>A chr7 116743044 116743045 CFMDB_1143 + CFTR:c.171G>A chr7 116826207 116826208 CFMDB_1066 + CFTR:c.2036G>A chr7 116743108 116743109 CFMDB_53 + CFTR:c.235T>C chr7 116743109 116743110 CFMDB_54 + CFTR:c.236G>A chr7 116828980 116828981 CFMDB_372 + CFTR:c.2537G>A chr7 116828981 116828982 CFMDB_373 + CFTR:c.2538G>A chr7 116836855 116836856 CFMDB_385 + CFTR:c.2645G>A chr7 116844575 116844576 CFMDB_829 + CFTR:c.3041A>G chr7 116844629 116844630 CFMDB_721 + CFTR:c.3095A>G chr7 116844628 116844629 CFMDB_1400 + CFTR:c.3094T>A chr7 116845663 116845664 CFMDB_1294 + CFTR:c.3218A>G chr7 116845720 116845721 CFMDB_1488 + CFTR:c.3275A>G chr7 116845719 116845720 CFMDB_747 + CFTR:c.3274T>C chr7 116845721 116845722 CFMDB_463 + CFTR:c.3276C>A chr7 116845721 116845722 CFMDB_464 + CFTR:c.3276C>G chr7 116764955 116764956 CFMDB_82 + CFTR:c.326A>G chr7 116764954 116764955 CFMDB_891 + CFTR:c.325T>A chr7 116764956 116764957 CFMDB_1342 + CFTR:c.327T>A chr7 116861603 116861604 CFMDB_500 + CFTR:c.3546C>G chr7 116764994 116764995 CFMDB_1624 + CFTR:c.365A>G chr7 116764993 116764994 CFMDB_1495 + CFTR:c.364T>C chr7 116764995 116764996 CFMDB_93 + CFTR:c.366T>A chr7 116886892 116886893 CFMDB_1279 + CFTR:c.3920A>G chr7 116886893 116886894 CFMDB_992 + CFTR:c.3921T>A chr7 116899467 116899468 CFMDB_1573 + CFTR:c.4141T>C chr7 116899469 116899470 CFMDB_1275 + CFTR:c.4143C>A chr7 116765110 116765111 CFMDB_996 + CFTR:c.481T>G chr7 116765110 116765111 CFMDB_1178 + CFTR:c.481T>A chr7 116765111 116765112 CFMDB_1063 + CFTR:c.482A>C chr7 116769413 116769414 CFMDB_149 + CFTR:c.741C>G chr7 116774136 116774137 CFMDB_164 + CFTR:c.902A>G chr7 116774146 116774147 CFMDB_165 + CFTR:c.912C>G chr7 116793618 116793619 CFMDB_1258 + CFTR:c.1543T>C chr7 116793625 116793626 CFMDB_760 + CFTR:c.1550A>G chr7 116824365 116824366 CFMDB_291 + CFTR:c.1688A>G chr7 116824364 116824365 CFMDB_289 + CFTR:c.1687T>G chr7 116824364 116824365 CFMDB_290 + CFTR:c.1687T>A chr7 116824383 116824384 CFMDB_296 + CFTR:c.1706A>G chr7 116824382 116824383 CFMDB_294 + CFTR:c.1705T>G chr7 116824382 116824383 CFMDB_295 + CFTR:c.1705T>C chr7 116824384 116824385 CFMDB_297 + CFTR:c.1707T>A chr7 116824407 116824408 CFMDB_302 + CFTR:c.1730A>T chr7 116824408 116824409 CFMDB_755 + CFTR:c.1731C>T chr7 116828990 116828991 CFMDB_1057 + CFTR:c.2547C>A chr7 116743123 116743124 CFMDB_1583 + CFTR:c.250T>C chr7 116743139 116743140 CFMDB_1092 + CFTR:c.266A>G chr7 116837616 116837617 CFMDB_395 + CFTR:c.2738A>G chr7 116837617 116837618 CFMDB_1500 + CFTR:c.2739T>A chr7 116837628 116837629 CFMDB_396 + CFTR:c.2750A>G chr7 116837627 116837628 CFMDB_615 + CFTR:c.2749T>G chr7 116837634 116837635 CFMDB_397 + CFTR:c.2756A>G chr9 132254361 132254362 IPNMDB_397 - NM_015046(ALS4):c.8C>T chr9 132235372 132235373 IPNMDB_398 - NM_015046(ALS4):c.1166T>C chr9 132188343 132188344 IPNMDB_399 - NM_015046(ALS4):c.6407G>A chr11 62226546 62226547 IPNMDB_380 - NM_032667(BSCL2):c.263A>G chr11 62226540 62226541 IPNMDB_381 - NM_032667(BSCL2):c.269C>T chr18 75571812 75571813 IPNMDB_360 + NM_004715(CTDP1):c.863+389C>T chr2 74516885 74516886 IPNMDB_643 - NM_004082(DCTN1):c.175G>A chr19 10765504 10765505 IPNMDB_885 + NM_004945(DNM2):c.1102G>C chr19 10783990 10783991 IPNMDB_886 + NM_004945(DNM2):c.1597G>T chr19 10784045 10784054 IPNMDB_729 + NM_004945(DNM2):c.1652_1659+1delATGAGGAGg chr19 10791667 10791670 IPNMDB_730 + NM_004945(DNM2):c.1672_1674delAAG chr19 10791667 10791668 IPNMDB_731 + NM_004945(DNM2):c.1672A>G chr19 10791692 10791693 IPNMDB_887 + NM_004945(DNM2):c.1697T>A chr10 64243600 64243601 IPNMDB_281 - NM_000399(EGR2):c.[..803T>A..] chr10 64243339 64243340 IPNMDB_334 - NM_000399(EGR2):c.1064A>T chr10 64243328 64243329 IPNMDB_282 - NM_000399(EGR2):c.1075C>T chr10 64243327 64243328 IPNMDB_815 - NM_000399(EGR2):c.1076G>A chr10 64243317 64243318 IPNMDB_286 - NM_000399(EGR2):c.1086A>C chr10 64243262 64243263 IPNMDB_487 - NM_000399(EGR2):c.1141C>T chr10 64243261 64243262 IPNMDB_335 - NM_000399(EGR2):c.1142G>A chr10 64243257 64243258 IPNMDB_283 - NM_000399(EGR2):c.[..1146T>G..] chr10 64243256 64243257 IPNMDB_283 - NM_000399(EGR2):c.[..1147G>T..] chr10 64243256 64243257 IPNMDB_36 - NM_000399(EGR2):c.1147G>T chr10 64243178 64243179 IPNMDB_284 - NM_000399(EGR2):c.1225C>T chr10 64243169 64243170 IPNMDB_923 - NM_000399(EGR2):c.1234G>A chr10 64243051 64243052 IPNMDB_379 - NM_000399(EGR2):c.1352G>T chr12 32642766 32642767 IPNMDB_926 + NM_139241.1(FGD4):c.[..670C>T..] chr12 32646417 32646418 IPNMDB_930 + NM_139241.1(FGD4):c.[..893T>C..] chr12 32646417 32646418 IPNMDB_927 + NM_139241.1(FGD4):c.[..893T>G..] chr12 32669261 32669263 IPNMDB_928 + NM_139241.1(FGD4):c.[..1628_1629delAG..] chr12 32669974 32669975 IPNMDB_929 + NM_139241.1(FGD4):c.[..1756G>T..] chr6 110143028 110143029 IPNMDB_932 + NM_014845.4(FIG4):c.[..122T>C..] chr6 110155008 110155009 IPNMDB_932 + NM_014845.4(FIG4):c.[..294delT..] chr6 110143028 110143029 IPNMDB_934 + NM_014845.4(FIG4):c.[..122T>C..] chr6 110166332 110166333 IPNMDB_934 + NM_014845.4(FIG4):c.[..759delG..] chr6 110143028 110143029 IPNMDB_935 + NM_014845.4(FIG4):c.[..122T>C..] chr6 110171573 110171581 IPNMDB_935 + NM_014845.4(FIG4):c.[..1043_1050delATCAGGCA..] chr16 79906236 79906238 IPNMDB_474 + NM_022041(GAN):c.[..18_19insA..] chr16 79906238 79906276 IPNMDB_679 + NM_022041(GAN):c.[..20_57del38..] chr16 79948959 79948960 IPNMDB_679 + NM_022041(GAN):c.[..896A>C..] chr16 79906261 79906262 IPNMDB_472 + NM_022041(GAN):c.[..43C>A..] chr16 79906363 79906364 IPNMDB_678 + NM_022041(GAN):c.[..145G>A..] chr16 79949007 79949008 IPNMDB_678 + NM_022041(GAN):c.[..944C>T..] chr16 79906369 79906370 IPNMDB_909 + NM_022041(GAN):c.[..151G>C..] chr16 79906372 79906373 IPNMDB_480 + NM_022041(GAN):c.[..154A>G..] chr16 79954991 79954992 IPNMDB_480 + NM_022041(GAN):c.[..1179T>A..] chr16 79942687 79942688 IPNMDB_903 + NM_022041(GAN):c.[..168-1G>A..] chr16 79942733 79942734 IPNMDB_911 + NM_022041(GAN):c.[..213T>A..] chr16 79942756 79942757 IPNMDB_481 + NM_022041(GAN):c.[..236C>T..] chr16 79942764 79942765 IPNMDB_476 + NM_022041(GAN):c.[..244G>T..] chr16 79942776 79942777 IPNMDB_652 + NM_022041(GAN):c.[..256A>T..] chr16 79945567 79945585 IPNMDB_652 + NM_022041(GAN):c.[..340_357delCTGACGGACCTTAAAACC..] chr16 79942786 79942787 IPNMDB_902 + NM_022041(GAN):c.[..266A>G..] chr16 79954914 79954915 IPNMDB_902 + NM_022041(GAN):c.[..1102G>A..] chr16 79945640 79945641 IPNMDB_482 + NM_022041(GAN):c.[..413G>A..] chr16 79945810 79945811 IPNMDB_906 + NM_022041(GAN):c.[..583G>T..] chr16 79945861 79945862 IPNMDB_906 + NM_022041(GAN):c.[..633+1G>T..] chr16 79945828 79945829 IPNMDB_569 + NM_022041(GAN):c.[..601C>T..] chr16 79956110 79956111 IPNMDB_569 + NM_022041(GAN):c.[..1268T>C..] chr16 79947980 79947981 IPNMDB_649 + NM_022041(GAN):c.[..724C>T..] chr16 79948062 79948063 IPNMDB_483 + NM_022041(GAN):c.806G>A chr16 79948940 79948941 IPNMDB_836 + NM_022041(GAN):c.[..877C>T..] chr16 79948940 79948941 IPNMDB_479 + NM_022041(GAN):c.[..877C>T..] chr16 79968616 79968617 IPNMDB_479 + NM_022041(GAN):c.[..1709G>A..] chr16 79949007 79949008 IPNMDB_908 + NM_022041(GAN):c.[..944C>T..] chr16 79968374 79968376 IPNMDB_908 + NM_022041(GAN):c.[..1553_1554delTT..] chr16 79953717 79953718 IPNMDB_677 + NM_022041(GAN):c.[..1086+1G>C..] chr16 79968350 79968351 IPNMDB_677 + NM_022041(GAN):c.[..1529T>G..] chr16 79953787 79953788 IPNMDB_484 + NM_022041(GAN):c.1086+71C>T chr16 79954914 79954915 IPNMDB_648 + NM_022041(GAN):c.[..1102G>A..] chr16 79955015 79955016 IPNMDB_477 + NM_022041(GAN):c.[..1203G>A..] chr16 79956537 79956538 IPNMDB_477 + NM_022041(GAN):c.[..1456G>A..] chr16 79956135 79956136 IPNMDB_485 + NM_022041(GAN):c.1293T>C chr16 79956501 79956502 IPNMDB_904 + NM_022041(GAN):c.[..1420G>C..] chr16 79956510 79956511 IPNMDB_904 + NM_022041(GAN):c.[..1429C>T..] chr16 79956510 79956511 IPNMDB_650 + NM_022041(GAN):c.[..1429C>T..] chr16 79956528 79956529 IPNMDB_475 + NM_022041(GAN):c.[..1447C>T..] chr16 79956537 79956538 IPNMDB_473 + NM_022041(GAN):c.[..1456G>A..] chr16 79956584 79956585 IPNMDB_837 + NM_022041(GAN):c.[..1502+1G>T..] chr16 79968326 79968327 IPNMDB_910 + NM_022041(GAN):c.[..1505G>A..] chr16 79968540 79968541 IPNMDB_478 + NM_022041(GAN):c.[..1633C>T..] chr16 79968541 79968542 IPNMDB_905 + NM_022041(GAN):c.[..1634G>A..] chr16 79968591 79968592 IPNMDB_676 + NM_022041(GAN):c.[..1684C>G..] chr7 30412809 30412810 IPNMDB_920 + NM_002047.1(GARS):c.170C>T chr7 30412851 30412852 IPNMDB_655 + NM_002047.1(GARS):c.212A>G chr7 30414033 30414034 IPNMDB_656 + NM_002047.1(GARS):c.385C>T chr7 30422584 30422585 IPNMDB_657 + NM_002047.1(GARS):c.718G>C chr7 30425069 30425070 IPNMDB_829 + NM_002047.1(GARS):c.838A>T chr7 30434303 30434304 IPNMDB_825 + NM_002047.1(GARS):c.1253A>G chr7 30439135 30439136 IPNMDB_826 + NM_002047.1(GARS):c.1498G>A chr7 30441453 30441454 IPNMDB_658 + NM_002047.1(GARS):c.1576G>C chr7 30445102 30445103 IPNMDB_828 + NM_002047.1(GARS):c.1742C>T chr8 75425342 75425343 IPNMDB_564 + NM_018972(GDAP1):c.[..92G>A..] chr8 75434925 75434926 IPNMDB_752 + NM_018972(GDAP1):c.[..311-1G>A..] chr8 75435004 75435005 IPNMDB_752 + NM_018972(GDAP1):c.[..389C>G..] chr8 75434956 75434960 IPNMDB_671 + NM_018972(GDAP1):c.[..341_344delAAAG..] chr8 75436675 75436676 IPNMDB_671 + NM_018972(GDAP1):c.[..487C>T..] chr8 75434956 75434960 IPNMDB_367 + NM_018972(GDAP1):c.[..341_344delAAAG..] chr8 75438794 75438795 IPNMDB_367 + NM_018972(GDAP1):c.[..715C>T..] chr8 75434962 75434963 IPNMDB_812 + NM_018972(GDAP1):c.[..347T>C..] chr8 75434962 75434963 IPNMDB_732 + NM_018972(GDAP1):c.[..347T>G..] chr8 75434964 75434966 IPNMDB_611 + NM_018972(GDAP1):c.[..349_350insT..] chr8 75434973 75434974 IPNMDB_672 + NM_018972(GDAP1):c.358C>T chr8 75434973 75434974 IPNMDB_368 + NM_018972(GDAP1):c.[..358C>T..] chr8 75438890 75438891 IPNMDB_368 + NM_018972(GDAP1):c.[..811G>A..] chr8 75434974 75434975 IPNMDB_642 + NM_018972(GDAP1):c.[..359G>A..] chr8 75435054 75435055 IPNMDB_874 + NM_018972(GDAP1):c.[..439delA..] chr8 75435060 75435061 IPNMDB_734 + NM_018972(GDAP1):c.[..445G>T..] chr8 75435073 75435074 IPNMDB_900 + NM_018972(GDAP1):c.[..458C>T..] chr8 75435084 75435085 IPNMDB_673 + NM_018972(GDAP1):c.469A>C chr8 75435097 75435098 IPNMDB_566 + NM_018972(GDAP1):c.[..482G>A..] chr8 75436671 75436672 IPNMDB_366 + NM_018972(GDAP1):c.[..485-2A>G..] chr8 75436675 75436676 IPNMDB_561 + NM_018972(GDAP1):c.[..487C>T..] chr8 75436675 75436676 IPNMDB_562 + NM_018972(GDAP1):c.[..487C>T..] chr8 75437729 75437730 IPNMDB_562 + NM_018972(GDAP1):c.[..581C>G..] chr8 75436695 75436696 IPNMDB_612 + NM_018972(GDAP1):c.507T>G chr8 75436759 75436760 IPNMDB_875 + NM_018972(GDAP1):c.[..571C>T..] chr8 75438794 75438795 IPNMDB_875 + NM_018972(GDAP1):c.[..715C>T..] chr8 75436768 75436769 IPNMDB_613 + NM_018972(GDAP1):c.[..579+1G>A..] chr8 75436746 75436747 IPNMDB_674 + NM_018972(GDAP1):c.[..558delT..] chr8 75437729 75437730 IPNMDB_565 + NM_018972(GDAP1):c.[..581C>G..] chr8 75437729 75437730 IPNMDB_361 + NM_018972(GDAP1):c.[..581C>G..] chr8 75439008 75439009 IPNMDB_361 + NM_018972(GDAP1):c.[..929G>A..] chr8 75437816 75437817 IPNMDB_365 + NM_018972(GDAP1):c.[..668T>A..] chr8 75438794 75438795 IPNMDB_813 + NM_018972(GDAP1):c.[..715C>T..] chr8 75438865 75438866 IPNMDB_609 + NM_018972(GDAP1):c.[..786delG..] chr8 75438923 75438924 IPNMDB_610 + NM_018972(GDAP1):c.[..844C>T..] chrX 70226584 70226585 IPNMDB_104 + NM_000166(GJB1):c.7T>C chrX 70226585 70226586 IPNMDB_288 + NM_000166(GJB1):c.8G>A chrX 70226585 70226586 IPNMDB_105 + NM_000166(GJB1):c.8G>C chrX 70226586 70226587 IPNMDB_466 + NM_000166(GJB1):c.9G>A chrX 70226597 70226600 IPNMDB_616 + NM_000166(GJB1):c.20_22delACA chrX 70226597 70226598 IPNMDB_106 + NM_000166(GJB1):c.20A>G chrX 70226599 70226600 IPNMDB_107 + NM_000166(GJB1):c.22A>C chrX 70226603 70226604 IPNMDB_289 + NM_000166(GJB1):c.26T>G chrX 70226604 70226605 IPNMDB_681 + NM_000166(GJB1):c.27G>T chrX 70226607 70226608 IPNMDB_628 + NM_000166(GJB1):c.30C>T chrX 70226608 70226609 IPNMDB_108 + NM_000166(GJB1):c.31A>G chrX 70226611 70226612 IPNMDB_109 + NM_000166(GJB1):c.34G>A chrX 70226613 70226614 IPNMDB_290 + NM_000166(GJB1):c.36C>T chrX 70226614 70226615 IPNMDB_111 + NM_000166(GJB1):c.37G>A chrX 70226614 70226615 IPNMDB_110 + NM_000166(GJB1):c.37G>T chrX 70226620 70226621 IPNMDB_378 + NM_000166(GJB1):c.43delC chrX 70226620 70226621 IPNMDB_114 + NM_000166(GJB1):c.43C>T chrX 70226621 70226622 IPNMDB_113 + NM_000166(GJB1):c.44G>A chrX 70226624 70226625 IPNMDB_115 + NM_000166(GJB1):c.47A>C chrX 70226636 70226637 IPNMDB_345 + NM_000166(GJB1):c.[..59T>A..] chrX 70226638 70226639 IPNMDB_345 + NM_000166(GJB1):c.[..61G>A..] chrX 70226636 70226637 IPNMDB_116 + NM_000166(GJB1):c.59T>G chrX 70226639 70226640 IPNMDB_117 + NM_000166(GJB1):c.62G>A chrX 70226641 70226642 IPNMDB_119 + NM_000166(GJB1):c.64C>G chrX 70226641 70226642 IPNMDB_121 + NM_000166(GJB1):c.64C>T chrX 70226642 70226643 IPNMDB_118 + NM_000166(GJB1):c.65G>A chrX 70226642 70226643 IPNMDB_122 + NM_000166(GJB1):c.[..65G>A..] chrX 70226764 70226765 IPNMDB_122 + NM_000166(GJB1):c.[..187G>A..] chrX 70226642 70226643 IPNMDB_120 + NM_000166(GJB1):c.65G>C chrX 70226645 70226646 IPNMDB_349 + NM_000166(GJB1):c.68T>A chrX 70226645 70226646 IPNMDB_123 + NM_000166(GJB1):c.68T>C chrX 70226649 70226650 IPNMDB_584 + NM_000166(GJB1):c.72G>T chrX 70226650 70226651 IPNMDB_124 + NM_000166(GJB1):c.73C>T chrX 70226651 70226652 IPNMDB_532 + NM_000166(GJB1):c.74T>C chrX 70226654 70226655 IPNMDB_126 + NM_000166(GJB1):c.77C>A chrX 70226654 70226655 IPNMDB_491 + NM_000166(GJB1):c.77C>G chrX 70226654 70226655 IPNMDB_125 + NM_000166(GJB1):c.77C>T chrX 70226660 70226661 IPNMDB_127 + NM_000166(GJB1):c.83T>A chrX 70226660 70226661 IPNMDB_128 + NM_000166(GJB1):c.83T>C chrX 70226662 70226663 IPNMDB_130 + NM_000166(GJB1):c.85T>C chrX 70226665 70226666 IPNMDB_292 + NM_000166(GJB1):c.88A>T chrX 70226666 70226667 IPNMDB_131 + NM_000166(GJB1):c.89T>A chrX 70226666 70226667 IPNMDB_293 + NM_000166(GJB1):c.89T>C chrX 70226667 70226668 IPNMDB_291 + NM_000166(GJB1):c.90C>G chrX 70226671 70226673 IPNMDB_129 + NM_000166(GJB1):c.94_95insTCTTCA chrX 70226677 70226678 IPNMDB_133 + NM_000166(GJB1):c.100A>G chrX 70226678 70226679 IPNMDB_344 + NM_000166(GJB1):c.101T>A chrX 70226678 70226679 IPNMDB_132 + NM_000166(GJB1):c.101T>C chrX 70226679 70226680 IPNMDB_294 + NM_000166(GJB1):c.102G>A chrX 70226680 70226681 IPNMDB_134 + NM_000166(GJB1):c.103G>A chrX 70226686 70226687 IPNMDB_135 + NM_000166(GJB1):c.109G>A chrX 70226689 70226690 IPNMDB_136 + NM_000166(GJB1):c.112G>A chrX 70226690 70226691 IPNMDB_742 + NM_000166(GJB1):c.113T>C chrX 70226691 70226693 IPNMDB_738 + NM_000166(GJB1):c.114_115insC chrX 70226692 70226693 IPNMDB_137 + NM_000166(GJB1):c.115G>C chrX 70226692 70226693 IPNMDB_925 + NM_000166(GJB1):c.115delG chrX 70226693 70226694 IPNMDB_138 + NM_000166(GJB1):c.116C>T chrX 70226695 70226696 IPNMDB_739 + NM_000166(GJB1):c.118G>A chrX 70226696 70226697 IPNMDB_139 + NM_000166(GJB1):c.119C>T chrX 70226698 70226699 IPNMDB_140 + NM_000166(GJB1):c.121G>A chrX 70226700 70226701 IPNMDB_833 + NM_000166(GJB1):c.123G>C chrX 70226701 70226702 IPNMDB_141 + NM_000166(GJB1):c.124delA chrX 70226704 70226705 IPNMDB_142 + NM_000166(GJB1):c.127G>A chrX 70226708 70226709 IPNMDB_295 + NM_000166(GJB1):c.131G>A chrX 70226708 70226709 IPNMDB_143 + NM_000166(GJB1):c.131G>T chrX 70226709 70226710 IPNMDB_438 + NM_000166(GJB1):c.132G>A chrX 70226714 70226715 IPNMDB_917 + NM_000166(GJB1):c.137A>G chrX 70226717 70226718 IPNMDB_880 + NM_000166(GJB1):c.140A>G chrX 70226722 70226723 IPNMDB_577 + NM_000166(GJB1):c.145T>C chrX 70226723 70226724 IPNMDB_144 + NM_000166(GJB1):c.146C>A chrX 70226725 70226726 IPNMDB_145 + NM_000166(GJB1):c.148T>C chrX 70226730 70226731 IPNMDB_296 + NM_000166(GJB1):c.153C>A chrX 70226735 70226736 IPNMDB_146 + NM_000166(GJB1):c.158G>C chrX 70226740 70226741 IPNMDB_685 + NM_000166(GJB1):c.163A>G chrX 70226741 70226742 IPNMDB_579 + NM_000166(GJB1):c.164C>G chrX 70226741 70226742 IPNMDB_147 + NM_000166(GJB1):c.164C>T chrX 70226743 70226744 IPNMDB_148 + NM_000166(GJB1):c.166C>T chrX 70226748 70226749 IPNMDB_149 + NM_000166(GJB1):c.171G>C chrX 70226750 70226751 IPNMDB_150 + NM_000166(GJB1):c.173C>G chrX 70226752 70226753 IPNMDB_297 + NM_000166(GJB1):c.175G>C chrX 70226752 70226753 IPNMDB_151 + NM_000166(GJB1):c.175G>T chrX 70226755 70226756 IPNMDB_299 + NM_000166(GJB1):c.178T>A chrX 70226755 70226756 IPNMDB_298 + NM_000166(GJB1):c.178T>C chrX 70226756 70226757 IPNMDB_152 + NM_000166(GJB1):c.179G>T chrX 70226761 70226763 IPNMDB_572 + NM_000166(GJB1):c.184_185insCACTCCAGCCTGGCTGCAACA chrX 70226764 70226765 IPNMDB_153 + NM_000166(GJB1):c.187G>A chrX 70226768 70226769 IPNMDB_154 + NM_000166(GJB1):c.191G>C chrX 70226768 70226769 IPNMDB_492 + NM_000166(GJB1):c.191G>T chrX 70226770 70226771 IPNMDB_465 + NM_000166(GJB1):c.193T>C chrX 70226771 70226772 IPNMDB_155 + NM_000166(GJB1):c.194A>G chrX 70226773 70226776 IPNMDB_156 + NM_000166(GJB1):c.196_198delGAC chrX 70226782 70226783 IPNMDB_300 + NM_000166(GJB1):c.205T>C chrX 70226785 70226786 IPNMDB_301 + NM_000166(GJB1):c.208C>G chrX 70226785 70226786 IPNMDB_302 + NM_000166(GJB1):c.208C>T chrX 70226787 70226789 IPNMDB_157 + NM_000166(GJB1):c.210_211insC chrX 70226792 70226793 IPNMDB_303 + NM_000166(GJB1):c.215C>T chrX 70226794 70226795 IPNMDB_158 + NM_000166(GJB1):c.217delC chrX 70226800 70226801 IPNMDB_161 + NM_000166(GJB1):c.223C>T chrX 70226801 70226802 IPNMDB_159 + NM_000166(GJB1):c.224G>A chrX 70226801 70226802 IPNMDB_160 + NM_000166(GJB1):c.224G>C chrX 70226807 70226808 IPNMDB_162 + NM_000166(GJB1):c.230G>C chrX 70226807 70226808 IPNMDB_304 + NM_000166(GJB1):c.230G>T chrX 70226808 70226809 IPNMDB_163 + NM_000166(GJB1):c.231G>A chrX 70226812 70226813 IPNMDB_279 + NM_000166(GJB1):c.235C>T chrX 70226815 70226816 IPNMDB_165 + NM_000166(GJB1):c.238C>T chrX 70226816 70226817 IPNMDB_164 + NM_000166(GJB1):c.239A>G chrX 70226818 70226819 IPNMDB_166 + NM_000166(GJB1):c.241C>T chrX 70226819 70226820 IPNMDB_305 + NM_000166(GJB1):c.242T>A chrX 70226825 70226826 IPNMDB_167 + NM_000166(GJB1):c.248T>C chrX 70226825 70226826 IPNMDB_467 + NM_000166(GJB1):c.248T>G chrX 70226827 70226828 IPNMDB_168 + NM_000166(GJB1):c.250G>A chrX 70226831 70226832 IPNMDB_169 + NM_000166(GJB1):c.254C>G chrX 70226831 70226832 IPNMDB_170 + NM_000166(GJB1):c.254C>T chrX 70226833 70226834 IPNMDB_171 + NM_000166(GJB1):c.256A>G chrX 70226833 70226834 IPNMDB_173 + NM_000166(GJB1):c.256A>T chrX 70226834 70226835 IPNMDB_172 + NM_000166(GJB1):c.257C>A chrX 70226836 70226837 IPNMDB_174 + NM_000166(GJB1):c.259C>G chrX 70226836 70226837 IPNMDB_176 + NM_000166(GJB1):c.259C>T chrX 70226837 70226838 IPNMDB_175 + NM_000166(GJB1):c.260C>T chrX 70226842 70226843 IPNMDB_306 + NM_000166(GJB1):c.265C>G chrX 70226843 70226844 IPNMDB_177 + NM_000166(GJB1):c.266T>C chrX 70226845 70226846 IPNMDB_346 + NM_000166(GJB1):c.268C>G chrX 70226846 70226847 IPNMDB_178 + NM_000166(GJB1):c.269T>A chrX 70226848 70226849 IPNMDB_308 + NM_000166(GJB1):c.271G>A chrX 70226849 70226850 IPNMDB_307 + NM_000166(GJB1):c.272T>C chrX 70226850 70226852 IPNMDB_179 + NM_000166(GJB1):c.273_274delGG chrX 70226852 70226854 IPNMDB_180 + NM_000166(GJB1):c.275_276delCC chrX 70226854 70226855 IPNMDB_181 + NM_000166(GJB1):c.277A>G chrX 70226857 70226858 IPNMDB_688 + NM_000166(GJB1):c.280C>G chrX 70226857 70226858 IPNMDB_183 + NM_000166(GJB1):c.280C>T chrX 70226859 70226860 IPNMDB_182 + NM_000166(GJB1):c.282C>A chrX 70226859 70226860 IPNMDB_350 + NM_000166(GJB1):c.282C>G chrX 70226860 70226861 IPNMDB_184 + NM_000166(GJB1):c.283G>A chrX 70226864 70226865 IPNMDB_309 + NM_000166(GJB1):c.287C>T chrX 70226875 70226876 IPNMDB_185 + NM_000166(GJB1):c.298C>T chrX 70226881 70226882 IPNMDB_187 + NM_000166(GJB1):c.304G>T chrX 70226882 70226883 IPNMDB_186 + NM_000166(GJB1):c.305A>G chrX 70226881 70226884 IPNMDB_556 + NM_000166(GJB1):c.304_306delGAG chrX 70226884 70226885 IPNMDB_188 + NM_000166(GJB1):c.307A>G chrX 70226888 70226889 IPNMDB_189 + NM_000166(GJB1):c.311A>C chrX 70226890 70226891 IPNMDB_190 + NM_000166(GJB1):c.313delA chrX 70226895 70226896 IPNMDB_310 + NM_000166(GJB1):c.318A>G chrX 70226896 70226897 IPNMDB_191 + NM_000166(GJB1):c.319C>T chrX 70226900 70226901 IPNMDB_568 + NM_000166(GJB1):c.323T>C chrX 70226901 70226903 IPNMDB_580 + NM_000166(GJB1):c.324_325insT chrX 70226906 70226907 IPNMDB_408 + NM_000166(GJB1):c.329G>A chrX 70226909 70226927 IPNMDB_192 + NM_000166(GJB1):c.332_349delATGGGGACCCCCTACACC chrX 70226915 70226923 IPNMDB_422 + NM_000166(GJB1):c.338_345delACCCCCTA insTGGC chrX 70226935 70226938 IPNMDB_629 + NM_000166(GJB1):c.358_360delGTG chrX 70226936 70226937 IPNMDB_193 + NM_000166(GJB1):c.359T>A chrX 70226948 70226949 IPNMDB_195 + NM_000166(GJB1):c.371delA chrX 70226949 70226950 IPNMDB_194 + NM_000166(GJB1):c.372G>C chrX 70226951 70226952 IPNMDB_581 + NM_000166(GJB1):c.374T>A chrX 70226957 70226958 IPNMDB_682 + NM_000166(GJB1):c.380T>G chrX 70226958 70226959 IPNMDB_311 + NM_000166(GJB1):c.381C>G chrX 70226959 70226960 IPNMDB_196 + NM_000166(GJB1):c.382T>C chrX 70226960 70226961 IPNMDB_441 + NM_000166(GJB1):c.383C>G chrX 70226966 70226967 IPNMDB_689 + NM_000166(GJB1):c.389C>T chrX 70226969 70226970 IPNMDB_313 + NM_000166(GJB1):c.392T>C chrX 70226970 70226971 IPNMDB_312 + NM_000166(GJB1):c.393G>A chrX 70226971 70226973 IPNMDB_198 + NM_000166(GJB1):c.394_395delTG chrX 70226973 70226974 IPNMDB_494 + NM_000166(GJB1):c.396G>A chrX 70226974 70226975 IPNMDB_199 + NM_000166(GJB1):c.397T>C chrX 70226976 70226977 IPNMDB_201 + NM_000166(GJB1):c.399G>A chrX 70226976 70226977 IPNMDB_200 + NM_000166(GJB1):c.399G>T chrX 70226978 70226979 IPNMDB_314 + NM_000166(GJB1):c.401C>A chrX 70226981 70226982 IPNMDB_202 + NM_000166(GJB1):c.404A>G chrX 70226984 70226985 IPNMDB_725 + GJB1:c.407T>C chr10 64243328 64243329 IPNMDB_725 - EGR2:c.1075C>T chrX 70226987 70226988 IPNMDB_203 + NM_000166(GJB1):c.410delT chrX 70226989 70226990 IPNMDB_315 + NM_000166(GJB1):c.412A>G chrX 70226990 70226991 IPNMDB_617 + NM_000166(GJB1):c.413G>A chrX 70226992 70226993 IPNMDB_204 + NM_000166(GJB1):c.415G>A chrX 70226996 70226997 IPNMDB_856 + NM_000166(GJB1):c.419T>A chrX 70227000 70227001 IPNMDB_205 + NM_000166(GJB1):c.423C>G chrX 70227001 70227002 IPNMDB_206 + NM_000166(GJB1):c.424C>T chrX 70227002 70227003 IPNMDB_207 + NM_000166(GJB1):c.425G>A chrX 70227005 70227006 IPNMDB_857 + NM_000166(GJB1):c.428T>C chrX 70227009 70227012 IPNMDB_208 + NM_000166(GJB1):c.432_434delGTT chrX 70227013 70227014 IPNMDB_630 + NM_000166(GJB1):c.436G>A chrX 70227016 70227017 IPNMDB_209 + NM_000166(GJB1):c.439delG chrX 70227017 70227018 IPNMDB_631 + NM_000166(GJB1):c.440C>A chrX 70227018 70227019 IPNMDB_316 + NM_000166(GJB1):c.441C>T chrX 70227022 70227023 IPNMDB_210 + NM_000166(GJB1):c.445T>A chrX 70227022 70227023 IPNMDB_211 + NM_000166(GJB1):c.445T>G chrX 70227028 70227029 IPNMDB_915 + NM_000166(GJB1):c.451T>C chrX 70227029 70227030 IPNMDB_351 + NM_000166(GJB1):c.452A>C chrX 70227032 70227033 IPNMDB_409 + NM_000166(GJB1):c.455T>A chrX 70227035 70227036 IPNMDB_582 + NM_000166(GJB1):c.458T>C chrX 70227036 70227038 IPNMDB_881 + NM_000166(GJB1):c.459_460delTT chrX 70227039 70227040 IPNMDB_212 + NM_000166(GJB1):c.462T>A chrX 70227043 70227053 IPNMDB_858 + NM_000166(GJB1):c.466_475delCTCTACCCTG chrX 70227043 70227044 IPNMDB_214 + NM_000166(GJB1):c.466C>T chrX 70227044 70227045 IPNMDB_213 + NM_000166(GJB1):c.467T>G chrX 70227047 70227048 IPNMDB_215 + NM_000166(GJB1):c.470A>G chrX 70227049 70227050 IPNMDB_216 + NM_000166(GJB1):c.472C>G chrX 70227049 70227050 IPNMDB_218 + NM_000166(GJB1):c.472C>T chrX 70227050 70227051 IPNMDB_217 + NM_000166(GJB1):c.473C>G chrX 70227050 70227051 IPNMDB_317 + NM_000166(GJB1):c.473C>T chrX 70227051 70227052 IPNMDB_318 + NM_000166(GJB1):c.474delT chrX 70227052 70227053 IPNMDB_219 + NM_000166(GJB1):c.475G>A chrX 70227053 70227054 IPNMDB_558 + NM_000166(GJB1):c.476G>A chrX 70227055 70227056 IPNMDB_220 + NM_000166(GJB1):c.478T>C chrX 70227058 70227059 IPNMDB_221 + NM_000166(GJB1):c.481G>C chrX 70227060 70227061 IPNMDB_319 + NM_000166(GJB1):c.483C>T chrX 70227067 70227068 IPNMDB_223 + NM_000166(GJB1):c.490C>T chrX 70227068 70227069 IPNMDB_222 + NM_000166(GJB1):c.491G>A chrX 70227076 70227077 IPNMDB_410 + NM_000166(GJB1):c.499A>G chrX 70227079 70227080 IPNMDB_726 + NM_000166(GJB1):c.502T>C chrX 70227080 70227081 IPNMDB_320 + NM_000166(GJB1):c.503G>A chrX 70227081 70227082 IPNMDB_321 + NM_000166(GJB1):c.504C>A chrX 70227084 70227085 IPNMDB_322 + NM_000166(GJB1):c.507C>T chrX 70227091 70227092 IPNMDB_618 + NM_000166(GJB1):c.514C>G chrX 70227091 70227092 IPNMDB_225 + NM_000166(GJB1):c.514C>T chrX 70227092 70227093 IPNMDB_323 + NM_000166(GJB1):c.515C>G chrX 70227092 70227093 IPNMDB_224 + NM_000166(GJB1):c.515C>T chrX 70227094 70227095 IPNMDB_226 + NM_000166(GJB1):c.517T>C chrX 70227095 70227096 IPNMDB_468 + NM_000166(GJB1):c.518G>A chrX 70227100 70227101 IPNMDB_227 + NM_000166(GJB1):c.523A>G chrX 70227101 70227103 IPNMDB_228 + NM_000166(GJB1):c.524_525insA chrX 70227103 70227104 IPNMDB_469 + NM_000166(GJB1):c.526A>C chrX 70227107 70227108 IPNMDB_229 + NM_000166(GJB1):c.530T>A chrX 70227107 70227108 IPNMDB_230 + NM_000166(GJB1):c.530T>C chrX 70227109 70227110 IPNMDB_231 + NM_000166(GJB1):c.532G>T chrX 70227112 70227113 IPNMDB_232 + NM_000166(GJB1):c.535T>C chrX 70227113 70227114 IPNMDB_882 + NM_000166(GJB1):c.536G>A chrX 70227115 70227116 IPNMDB_916 + NM_000166(GJB1):c.538T>C chrX 70227116 70227117 IPNMDB_324 + NM_000166(GJB1):c.539T>C chrX 70227117 70227118 IPNMDB_233 + NM_000166(GJB1):c.540C>G chrX 70227118 70227119 IPNMDB_234 + NM_000166(GJB1):c.541G>A chrX 70227119 70227120 IPNMDB_740 + NM_000166(GJB1):c.542T>C chrX 70227121 70227122 IPNMDB_235 + NM_000166(GJB1):c.544T>A chrX 70227124 70227125 IPNMDB_238 + NM_000166(GJB1):c.547C>A chrX 70227124 70227125 IPNMDB_236 + NM_000166(GJB1):c.547C>T chrX 70227125 70227126 IPNMDB_237 + NM_000166(GJB1):c.548G>A chrX 70227128 70227129 IPNMDB_239 + NM_000166(GJB1):c.551C>G chrX 70227128 70227129 IPNMDB_352 + NM_000166(GJB1):c.551C>T chrX 70227130 70227133 IPNMDB_240 + NM_000166(GJB1):c.553_555delACC chrX 70227133 70227134 IPNMDB_241 + NM_000166(GJB1):c.556G>A chrX 70227133 70227134 IPNMDB_242 + NM_000166(GJB1):c.556G>T chrX 70227133 70227135 IPNMDB_243 + NM_000166(GJB1):c.556_557insG chrX 70227136 70227137 IPNMDB_244 + NM_000166(GJB1):c.559A>G chrX 70227138 70227147 IPNMDB_845 + NM_000166(GJB1):c.561_569insAACCGTCTT chrX 70227139 70227140 IPNMDB_325 + NM_000166(GJB1):c.562A>G chrX 70227142 70227143 IPNMDB_246 + NM_000166(GJB1):c.565G>A chrX 70227143 70227144 IPNMDB_245 + NM_000166(GJB1):c.566T>G chrX 70227148 70227149 IPNMDB_486 + NM_000166(GJB1):c.571A>G chrX 70227148 70227157 IPNMDB_834 + NM_000166(GJB1):c.571_579dupACCGTCTTC chrX 70227149 70227158 IPNMDB_741 + NM_000166(GJB1):c.572_580delCCGTCTTCA chrX 70227151 70227152 IPNMDB_326 + NM_000166(GJB1):c.574G>T chrX 70227155 70227156 IPNMDB_249 + NM_000166(GJB1):c.578T>G chrX 70227156 70227157 IPNMDB_347 + NM_000166(GJB1):c.579C>G chrX 70227157 70227158 IPNMDB_250 + NM_000166(GJB1):c.580A>G chrX 70227170 70227171 IPNMDB_251 + NM_000166(GJB1):c.593C>T chrX 70227171 70227172 IPNMDB_727 + NM_000166(GJB1):c.594T>A chrX 70227172 70227173 IPNMDB_252 + NM_000166(GJB1):c.595G>C chrX 70227178 70227179 IPNMDB_253 + NM_000166(GJB1):c.601T>C chrX 70227179 70227180 IPNMDB_686 + NM_000166(GJB1):c.602G>A chrX 70227179 70227180 IPNMDB_883 + NM_000166(GJB1):c.602G>T chrX 70227185 70227186 IPNMDB_254 + NM_000166(GJB1):c.608T>A chrX 70227187 70227188 IPNMDB_255 + NM_000166(GJB1):c.610C>G chrX 70227187 70227188 IPNMDB_256 + NM_000166(GJB1):c.610C>T chrX 70227191 70227192 IPNMDB_257 + NM_000166(GJB1):c.614A>G chrX 70227191 70227192 IPNMDB_327 + NM_000166(GJB1):c.614A>T chrX 70227194 70227196 IPNMDB_328 + NM_000166(GJB1):c.617_618insT chrX 70227199 70227200 IPNMDB_258 + NM_000166(GJB1):c.622G>A chrX 70227200 70227201 IPNMDB_533 + NM_000166(GJB1):c.623A>G chrX 70227205 70227208 IPNMDB_632 + NM_000166(GJB1):c.628_630delGTG chrX 70227208 70227209 IPNMDB_507 + NM_000166(GJB1):c.631T>C chrX 70227210 70227211 IPNMDB_259 + NM_000166(GJB1):c.633C>A chrX 70227210 70227211 IPNMDB_884 + NM_000166(GJB1):c.633delC chrX 70227211 70227212 IPNMDB_680 + NM_000166(GJB1):c.634C>T chrX 70227214 70227218 IPNMDB_260 + NM_000166(GJB1):c.637_640delATCAinsC chrX 70227214 70227215 IPNMDB_329 + NM_000166(GJB1):c.637A>G chrX 70227218 70227219 IPNMDB_879 + NM_000166(GJB1):c.641T>A chrX 70227220 70227221 IPNMDB_261 + NM_000166(GJB1):c.643C>T chrX 70227228 70227229 IPNMDB_262 + NM_000166(GJB1):c.651T>A chrX 70227232 70227233 IPNMDB_263 + NM_000166(GJB1):c.655C>T chrX 70227233 70227234 IPNMDB_264 + NM_000166(GJB1):c.656G>A chrX 70227235 70227236 IPNMDB_265 + NM_000166(GJB1):c.658C>G chrX 70227235 70227236 IPNMDB_266 + NM_000166(GJB1):c.658C>T chrX 70227265 70227266 IPNMDB_267 + NM_000166(GJB1):c.688C>T chrX 70227266 70227267 IPNMDB_268 + NM_000166(GJB1):c.689G>T chrX 70227281 70227282 IPNMDB_269 + NM_000166(GJB1):c.704T>G chrX 70227290 70227291 IPNMDB_270 + NM_000166(GJB1):c.713G>A chrX 70227292 70227293 IPNMDB_330 + NM_000166(GJB1):c.715C>A chrX 70227338 70227340 IPNMDB_271 + NM_000166(GJB1):c.761_762insA chrX 70227367 70227368 IPNMDB_633 + NM_000166(GJB1):c.790C>T chrX 70227370 70227399 IPNMDB_272 + NM_000166(GJB1):c.793_821del29 chrX 70227415 70227416 IPNMDB_423 + NM_000166(GJB1):c.838T>G chrX 70227418 70227423 IPNMDB_275 + NM_000166(GJB1):c.841_845delTCGGC chrX 70227419 70227420 IPNMDB_274 + NM_000166(GJB1):c.842C>A chr12 847472 847473 IPNMDB_864 + NM_213655(HSN2):c.[..217C>T..] chr12 848389 848391 IPNMDB_864 + NM_213655(HSN2):c.[..1134_1135insT..] chr12 847509 847510 IPNMDB_807 + NM_213655(HSN2):c.[..254delC..] chr12 848344 848346 IPNMDB_807 + NM_213655(HSN2):c.[..1089_1090insT..] chr12 847805 847806 IPNMDB_808 + NM_213655(HSN2):c.[..550C>T..] chr12 847849 847850 IPNMDB_392 + NM_213655(HSN2):c.[..594delA..] chr12 848123 848124 IPNMDB_747 + NM_213655(HSN2):c.[..868C>T..] chr12 848173 848175 IPNMDB_393 + NM_213655(HSN2):c.[..918_919insA..] chr12 848173 848175 IPNMDB_395 + NM_213655(HSN2):c.[..918_919insA..] chr12 848198 848199 IPNMDB_395 + NM_213655(HSN2):c.[..943C>T..] chr12 848198 848199 IPNMDB_394 + NM_213655(HSN2):c.[..943C>T..] chr12 848202 848203 IPNMDB_746 + NM_213655(HSN2):c.[..947delC..] chr12 848319 848321 IPNMDB_809 + NM_213655(HSN2):c.[..1064_1065delTC..] chr12 848389 848391 IPNMDB_810 + NM_213655(HSN2):c.[..1134_1135insT..] chr7 75577783 75577784 IPNMDB_400 + NM_001540(HSPB1):c.379C>T chr7 75577808 75577809 IPNMDB_401 + NM_001540(HSPB1):c.404C>T chr7 75577810 75577811 IPNMDB_402 + NM_001540(HSPB1):c.406C>T chr7 75577974 75577975 IPNMDB_403 + NM_001540(HSPB1):c.452C>T chr7 75578066 75578067 IPNMDB_847 + NM_001540(HSPB1):c.544C>T chr7 75578067 75578068 IPNMDB_404 + NM_001540(HSPB1):c.545C>T chr12 118087602 118087603 IPNMDB_405 + NM_014365(HSPB8):c.421A>G chr12 118087604 118087605 IPNMDB_406 + NM_014365(HSPB8):c.423G>C chr12 118087604 118087605 IPNMDB_745 + NM_014365(HSPB8):c.423G>T chr11 68428045 68428046 IPNMDB_889 + NM_002180(IGHMBP2):c.[..50T>C..] chr11 68457907 68457908 IPNMDB_889 + NM_002180(IGHMBP2):c.[..1488C>A..] chr11 68430139 68430140 IPNMDB_755 + NM_002180(IGHMBP2):c.[..114delA..] chr11 68430145 68430146 IPNMDB_924 + NM_002180(IGHMBP2):c.[..120delC..] chr11 68441926 68441927 IPNMDB_924 + NM_002180(IGHMBP2):c.[..1060G>A..] chr11 68430146 68430147 IPNMDB_768 + NM_002180(IGHMBP2):c.[..121delC..] chr11 68432319 68432320 IPNMDB_768 + NM_002180(IGHMBP2):c.[..388C>T..] chr11 68430146 68430147 IPNMDB_546 + NM_002180(IGHMBP2):c.[..121C>T..] chr11 68435610 68435611 IPNMDB_546 + NM_002180(IGHMBP2):c.[..675delT..] chr11 68430152 68430153 IPNMDB_554 + NM_002180(IGHMBP2):c.[..127C>T..] chr11 68457907 68457908 IPNMDB_554 + NM_002180(IGHMBP2):c.[..1488C>A..] chr11 68430163 68430164 IPNMDB_764 + NM_002180(IGHMBP2):c.[..138T>A..] chr11 68459357 68459359 IPNMDB_764 + NM_002180(IGHMBP2):c.[..1648_1649insG..] chr11 68430188 68430189 IPNMDB_896 + NM_002180(IGHMBP2):c.[..163C>T..] chr11 68460492 68460493 IPNMDB_896 + NM_002180(IGHMBP2):c.[..1969C>T..] chr11 68430205 68430206 IPNMDB_550 + NM_002180(IGHMBP2):c.180C>T chr11 68432319 68432320 IPNMDB_888 + NM_002180(IGHMBP2):c.[..388C>T..] chr11 68432319 68432320 IPNMDB_758 + NM_002180(IGHMBP2):c.[..388C>T..] chr11 68453309 68453310 IPNMDB_758 + NM_002180(IGHMBP2):c.[..1144G>A..] chr11 68432319 68432320 IPNMDB_898 + NM_002180(IGHMBP2):c.[..388C>T..] chr11 68459452 68459453 IPNMDB_898 + NM_002180(IGHMBP2):c.[..1743A>C..] chr11 68432370 68432371 IPNMDB_765 + NM_002180(IGHMBP2):c.[..439C>T..] chr11 68457907 68457908 IPNMDB_765 + NM_002180(IGHMBP2):c.[..1488C>A..] chr11 68435510 68435511 IPNMDB_757 + NM_002180(IGHMBP2):c.[..575T>C..] chr11 68457383 68457384 IPNMDB_757 + NM_002180(IGHMBP2):c.[..1277T>C..] chr11 68435522 68435523 IPNMDB_662 + NM_002180(IGHMBP2):c.[..587A>G..] chr11 68460432 68460433 IPNMDB_662 + NM_002180(IGHMBP2):c.[..1909C>T..] chr11 68435551 68435552 IPNMDB_895 + NM_002180(IGHMBP2):c.[..616C>T..] chr11 68460400 68460401 IPNMDB_895 + NM_002180(IGHMBP2):c.[..1877delT..] chr11 68435573 68435574 IPNMDB_544 + NM_002180(IGHMBP2):c.[..638A>G..] chr11 68435582 68435583 IPNMDB_661 + NM_002180(IGHMBP2):c.[..647C>T..] chr11 68460330 68460331 IPNMDB_661 + NM_002180(IGHMBP2):c.[..1807C>T..] chr11 68435596 68435597 IPNMDB_890 + NM_002180(IGHMBP2):c.[..661delA..] chr11 68457521 68457522 IPNMDB_890 + NM_002180(IGHMBP2):c.[..1415T>C..] chr11 68435596 68435597 IPNMDB_431 + NM_002180(IGHMBP2):c.[..661delA..] chr11 68435596 68435597 IPNMDB_774 + NM_002180(IGHMBP2):c.[..661A>G..] chr11 68460336 68460337 IPNMDB_774 + NM_002180(IGHMBP2):c.[..1813C>T..] chr11 68435642 68435643 IPNMDB_767 + NM_002180(IGHMBP2):c.[..707T>G..] chr11 68438875 68438876 IPNMDB_767 + NM_002180(IGHMBP2):c.[..721T>C..] chr11 68435642 68435643 IPNMDB_548 + NM_002180(IGHMBP2):c.[..707T>G..] chr11 68438906 68438907 IPNMDB_665 + NM_002180(IGHMBP2):c.[..752T>C..] chr11 68459439 68459440 IPNMDB_665 + NM_002180(IGHMBP2):c.[..1730T>C..] chr11 68439058 68439059 IPNMDB_897 + NM_002180(IGHMBP2):c.[..904C>T..] chr11 68453321 68453322 IPNMDB_897 + NM_002180(IGHMBP2):c.[..1156T>C..] chr11 68441824 68441825 IPNMDB_624 + NM_002180(IGHMBP2):c.[..958C>T..] chr11 68457907 68457908 IPNMDB_624 + NM_002180(IGHMBP2):c.[..1488C>A..] chr11 68441824 68441825 IPNMDB_660 + NM_002180(IGHMBP2):c.[..958C>T..] chr11 68453247 68453248 IPNMDB_660 + NM_002180(IGHMBP2):c.[..1082T>C..] chr11 68441849 68441854 IPNMDB_756 + NM_002180(IGHMBP2):c.[..983_987delAAGAA..] chr11 68441866 68441867 IPNMDB_769 + NM_002180(IGHMBP2):c.[..1000G>A..] chr11 68441927 68441928 IPNMDB_893 + NM_002180(IGHMBP2):c.[..1060+1G>T..] chr11 68453247 68453248 IPNMDB_893 + NM_002180(IGHMBP2):c.[..1082T>C..] chr11 68453247 68453248 IPNMDB_425 + NM_002180(IGHMBP2):c.[..1082T>C..] chr11 68457907 68457908 IPNMDB_425 + NM_002180(IGHMBP2):c.[..1488C>A..] chr11 68453247 68453248 IPNMDB_761 + NM_002180(IGHMBP2):c.[..1082T>C..] chr11 68459439 68459440 IPNMDB_761 + NM_002180(IGHMBP2):c.[..1730T>C..] chr11 68453256 68453257 IPNMDB_770 + NM_002180(IGHMBP2):c.[..1091T>C..] chr11 68460959 68460960 IPNMDB_770 + NM_002180(IGHMBP2):c.[..2436delT..] chr11 68453272 68453273 IPNMDB_753 + NM_002180(IGHMBP2):c.[..1107C>G..] chr11 68430282 68453226 IPNMDB_753 + NM_002180(IGHMBP2):c.[..256+?_1061-?del..] chr11 68453321 68453322 IPNMDB_891 + NM_002180(IGHMBP2):c.[..1156T>C..] chr11 68460336 68460337 IPNMDB_891 + NM_002180(IGHMBP2):c.[..1813C>T..] chr11 68453383 68453384 IPNMDB_894 + NM_002180(IGHMBP2):c.[..1218delC..] chr11 68459417 68459418 IPNMDB_894 + NM_002180(IGHMBP2):c.[..1708C>T..] chr11 68453403 68453404 IPNMDB_892 + NM_002180(IGHMBP2):c.[..1235+3A>G..] chr11 68457440 68457441 IPNMDB_892 + NM_002180(IGHMBP2):c.[..1334A>C..] chr11 68457882 68457883 IPNMDB_547 + NM_002180(IGHMBP2):c.[..1463delT..] chr11 68457907 68457908 IPNMDB_754 + NM_002180(IGHMBP2):c.[..1488C>A..] chr11 68457907 68457908 IPNMDB_763 + NM_002180(IGHMBP2):c.[..1488C>A..] chr11 68459457 68459458 IPNMDB_763 + NM_002180(IGHMBP2):c.[..1748A>T..] chr11 68457907 68457908 IPNMDB_762 + NM_002180(IGHMBP2):c.[..1488C>A..] chr11 68460331 68460332 IPNMDB_762 + NM_002180(IGHMBP2):c.[..1808G>A..] chr11 68457907 68457908 IPNMDB_664 + NM_002180(IGHMBP2):c.[..1488C>A..] chr11 68458509 68458510 IPNMDB_543 + NM_002180(IGHMBP2):c.[..1540G>A..] chr11 68459402 68459403 IPNMDB_771 + NM_002180(IGHMBP2):c.[..1693G>A..] chr11 68459439 68459440 IPNMDB_771 + NM_002180(IGHMBP2):c.[..1730T>C..] chr11 68459423 68459426 IPNMDB_759 + NM_002180(IGHMBP2):c.[..1714_1716delAAG..] chr11 68463714 68463715 IPNMDB_759 + NM_002180(IGHMBP2):c.[..2922T>G..] chr11 68459447 68459448 IPNMDB_545 + NM_002180(IGHMBP2):c.[..1738G>A..] chr11 68459447 68459448 IPNMDB_877 + NM_002180(IGHMBP2):c.[..1738G>A..] chr11 68460879 68460880 IPNMDB_877 + NM_002180(IGHMBP2):c.[..2356delG..] chr11 68459465 68459466 IPNMDB_772 + NM_002180(IGHMBP2):c.[..1756G>T..] chr11 68460432 68460433 IPNMDB_772 + NM_002180(IGHMBP2):c.[..1909C>T..] chr11 68460885 68460886 IPNMDB_760 + NM_002180(IGHMBP2):c.[..2362C>T..] chr11 68461135 68461136 IPNMDB_549 + NM_002180(IGHMBP2):c.[..2611+1G>T..] chr11 68462249 68462250 IPNMDB_744 + NM_002180(IGHMBP2):c.[..2636C>A..] chr11 68462249 68462250 IPNMDB_552 + NM_002180(IGHMBP2):c.2636C>A chr11 68462451 68462452 IPNMDB_553 + NM_002180(IGHMBP2):c.2784+54G>A chr9 108742137 108742138 IPNMDB_514 - NM_003640(IKBKAP):c.[..2087G>C..] chr9 108741650 108741651 IPNMDB_514 - NM_003640(IKBKAP):c.[..2204+6T>C..] chr9 108741650 108741651 IPNMDB_513 - NM_003640(IKBKAP):c.[..2204+6T>C..] chr9 108741650 108741651 IPNMDB_363 - NM_003640(IKBKAP):c.[..2204+6T>C..] chr9 108735896 108735897 IPNMDB_363 - NM_003640(IKBKAP):c.[..2741C>T..] chr16 11557941 11557942 IPNMDB_705 - NM_004862(LITAF):c.146C>T chr16 11557829 11557830 IPNMDB_712 - NM_004862(LITAF):c.220+38T>C chr16 11555044 11555045 IPNMDB_407 - NM_004862(LITAF):c.222T>C chr16 11554992 11554993 IPNMDB_713 - NM_004862(LITAF):c.274A>G chr16 11554936 11554937 IPNMDB_707 - NM_004862(LITAF):c.330C>T chr16 11554934 11554935 IPNMDB_859 - NM_004862(LITAF):c.332C>G chr16 11554932 11554933 IPNMDB_640 - NM_004862(LITAF):c.334G>A chr16 11554922 11554923 IPNMDB_639 - NM_004862(LITAF):c.344C>A chr16 11554920 11554921 IPNMDB_641 - NM_004862(LITAF):c.346T>G chr16 11554902 11554903 IPNMDB_704 - NM_004862(LITAF):c.364C>G chr16 11551130 11551131 IPNMDB_714 - NM_004862(LITAF):c.378-29C>T chr16 11551076 11551077 IPNMDB_861 - NM_004862(LITAF):c.403C>A chr16 11551076 11551077 IPNMDB_860 - NM_004862(LITAF):c.403C>T chr16 11551002 11551003 IPNMDB_708 - NM_004862(LITAF):c.477G>A chr16 11550940 11550941 IPNMDB_709 - NM_004862(LITAF):c.539C>G chr16 11550894 11550895 IPNMDB_710 - NM_004862(LITAF):c.585C>T chr16 11550850 11550851 IPNMDB_711 - NM_004862(LITAF):c.629C>T chr16 11550808 11550809 IPNMDB_706 - NM_004862(LITAF):c.671T>C chr1 152897880 152897881 IPNMDB_690 + NM_005572(LMNA):c.99G>T chr1 152918131 152918132 IPNMDB_567 + NM_005572(LMNA):c.[..892C>T..] chr1 11983624 11983625 IPNMDB_876 + NM_014874(MFN2):c.134A>G chr1 11986906 11986907 IPNMDB_387 + NM_014874(MFN2):c.205G>T chr1 11986928 11986929 IPNMDB_383 + NM_014874(MFN2):c.227T>C chr1 11986976 11986977 IPNMDB_784 + NM_014874(MFN2):c.275T>C chr1 11986981 11986982 IPNMDB_391 + NM_014874(MFN2):c.280C>T chr1 11986982 11986983 IPNMDB_386 + NM_014874(MFN2):c.281G>A chr1 11987000 11987001 IPNMDB_785 + NM_014874(MFN2):c.299C>G chr1 11990480 11990481 IPNMDB_390 + NM_014874(MFN2):c.314C>T chr1 11990534 11990535 IPNMDB_786 + NM_014874(MFN2):c.368C>T chr1 11990546 11990547 IPNMDB_817 + NM_014874(MFN2):c.380G>A chr1 11990546 11990547 IPNMDB_839 + NM_014874(MFN2):c.380G>T chr1 11991637 11991638 IPNMDB_844 + NM_014874(MFN2):c.493C>G chr1 11991637 11991638 IPNMDB_788 + NM_014874(MFN2):c.493C>T chr1 11991638 11991639 IPNMDB_787 + NM_014874(MFN2):c.494A>G chr1 11993109 11993110 IPNMDB_797 + NM_014874(MFN2):c.617C>T chr1 11993130 11993131 IPNMDB_822 + NM_014874(MFN2):c.638T>C chr1 11993161 11993162 IPNMDB_715 + NM_014874(MFN2):c.669T>A chr1 11993199 11993200 IPNMDB_716 + NM_014874(MFN2):c.707C>T chr1 11993331 11993332 IPNMDB_717 + NM_014874(MFN2):c.730G>A chr1 11993349 11993350 IPNMDB_789 + NM_014874(MFN2):c.[..748C>T..] chr1 11998351 11998352 IPNMDB_789 + NM_014874(MFN2):c.[..1198C>T..] chr1 11993350 11993351 IPNMDB_790 + NM_014874(MFN2):c.749G>A chr1 11993352 11993353 IPNMDB_385 + NM_014874(MFN2):c.751C>G chr1 11993388 11993389 IPNMDB_818 + NM_014874(MFN2):c.787T>C chr1 11995724 11995725 IPNMDB_821 + NM_014874(MFN2):c.818T>G chr1 11995727 11995728 IPNMDB_389 + NM_014874(MFN2):c.821G>A chr1 11995733 11995734 IPNMDB_798 + NM_014874(MFN2):c.827A>G chr1 11995736 11995737 IPNMDB_791 + NM_014874(MFN2):c.830A>G chr1 11995745 11995746 IPNMDB_384 + NM_014874(MFN2):c.839G>A chr1 11995757 11995758 IPNMDB_718 + NM_014874(MFN2):c.851T>A chr1 11995798 11995799 IPNMDB_824 + NM_014874(MFN2):c.892G>A chr1 11995863 11995864 IPNMDB_823 + NM_014874(MFN2):c.957C>T chr1 11996305 11996306 IPNMDB_840 + NM_014874(MFN2):c.1040A>T chr1 11996313 11996314 IPNMDB_846 + NM_014874(MFN2):c.1048T>C chr1 11996336 11996337 IPNMDB_719 + NM_014874(MFN2):c.1071G>C chr1 11996346 11996347 IPNMDB_799 + NM_014874(MFN2):c.1081C>T chr1 11996350 11996351 IPNMDB_819 + NM_014874(MFN2):c.1085C>T chr1 11996355 11996356 IPNMDB_800 + NM_014874(MFN2):c.1090C>T chr1 11996392 11996393 IPNMDB_820 + NM_014874(MFN2):c.1127T>C chr1 11996393 11996394 IPNMDB_792 + NM_014874(MFN2):c.1128G>A chr1 11996399 11996408 IPNMDB_793 + NM_014874(MFN2):c.1134_1142delCCTGCACAT chr1 11996413 11996414 IPNMDB_919 + NM_014874(MFN2):c.1148C>T chr1 11996422 11996423 IPNMDB_794 + NM_014874(MFN2):c.[..1157A>C..] chr1 11996423 11996424 IPNMDB_794 + NM_014874(MFN2):c.[..1158G>T..] chr1 11998405 11998406 IPNMDB_388 + NM_014874(MFN2):c.1252C>T chr1 11998424 11998425 IPNMDB_720 + NM_014874(MFN2):c.1271A>G chr1 11999157 11999158 IPNMDB_841 + NM_014874(MFN2):c.1403G>A chr1 12003957 12003958 IPNMDB_842 + NM_014874(MFN2):c.2113G>A chr1 12003973 12003974 IPNMDB_795 + NM_014874(MFN2):c.2129T>C chr1 12005832 12005833 IPNMDB_382 + NM_014874(MFN2):c.2219G>C chr1 12005864 12005865 IPNMDB_796 + NM_014874(MFN2):c.2251C>T chr1 12005871 12005873 IPNMDB_843 + NM_014874(MFN2):c.2258_2259insT chr1 158092744 158092745 IPNMDB_573 - D10537(MPZ):c.24C>T chr1 158092709 158092710 IPNMDB_849 - D10537(MPZ):c.59C>T chr1 158090264 158090267 IPNMDB_340 - D10537(MPZ):c.88_90delATCinsGGGGTTTACACC chr1 158090265 158090266 IPNMDB_851 - D10537(MPZ):c.89T>C chr1 158090264 158090265 IPNMDB_39 - D10537(MPZ):c.90C>G chr1 158090260 158090261 IPNMDB_40 - D10537(MPZ):c.94G>T chr1 158090253 158090254 IPNMDB_41 - D10537(MPZ):c.101C>T chr1 158090251 158090252 IPNMDB_353 - D10537(MPZ):c.103G>T chr1 158090248 158090249 IPNMDB_831 - D10537(MPZ):c.106A>T chr1 158090238 158090239 IPNMDB_666 - D10537(MPZ):c.116A>C chr1 158090229 158090232 IPNMDB_376 - D10537(MPZ):c.[..123_125delTGT..] chr1 158088824 158088825 IPNMDB_376 - D10537(MPZ):c.[..661G>A..] chr1 158090223 158090224 IPNMDB_42 - D10537(MPZ):c.131C>T chr1 158090220 158090221 IPNMDB_429 - D10537(MPZ):c.134G>A chr1 158090211 158090212 IPNMDB_832 - D10537(MPZ):c.143T>C chr1 158090179 158090206 IPNMDB_667 - D10537(MPZ):c.149_175del27 chr1 158090202 158090203 IPNMDB_489 - D10537(MPZ):c.152C>T chr1 158090194 158090195 IPNMDB_339 - D10537(MPZ):c.160T>C chr1 158090193 158090194 IPNMDB_43 - D10537(MPZ):c.161C>G chr1 158090188 158090189 IPNMDB_412 - D10537(MPZ):c.166G>A chr1 158090182 158090183 IPNMDB_44 - D10537(MPZ):c.172G>T chr1 158090181 158090182 IPNMDB_670 - D10537(MPZ):c.173T>A chr1 158090176 158090177 IPNMDB_415 - D10537(MPZ):c.178G>C chr1 158090173 158090174 IPNMDB_506 - D10537(MPZ):c.181G>A chr1 158090172 158090173 IPNMDB_332 - D10537(MPZ):c.182A>G chr1 158090170 158090171 IPNMDB_45 - D10537(MPZ):c.184A>T chr1 158090168 158090169 IPNMDB_416 - D10537(MPZ):c.186C>G chr1 158090166 158090167 IPNMDB_46 - D10537(MPZ):c.188C>G chr1 158090166 158090167 IPNMDB_47 - D10537(MPZ):c.188C>T chr1 158090164 158090167 IPNMDB_48 - D10537(MPZ):c.188_190delCCT chr1 158090162 158090165 IPNMDB_49 - D10537(MPZ):c.190_192delTTC chr1 158090161 158090162 IPNMDB_411 - D10537(MPZ):c.193A>G chr1 158090160 158090161 IPNMDB_683 - D10537(MPZ):c.194C>A chr1 158090160 158090161 IPNMDB_626 - D10537(MPZ):c.194C>T chr1 158090154 158090155 IPNMDB_777 - D10537(MPZ):c.200G>C chr1 158090151 158090152 IPNMDB_50 - D10537(MPZ):c.203A>G chr1 158090146 158090147 IPNMDB_912 - D10537(MPZ):c.208C>T chr1 158090131 158090132 IPNMDB_51 - D10537(MPZ):c.223delG chr1 158090130 158090131 IPNMDB_470 - D10537(MPZ):c.224A>T chr1 158090127 158090128 IPNMDB_333 - D10537(MPZ):c.227C>T chr1 158090121 158090122 IPNMDB_370 - D10537(MPZ):c.233C>G chr1 158090121 158090122 IPNMDB_52 - D10537(MPZ):c.233C>T chr1 158090143 158090144 IPNMDB_505 - D10537(MPZ):c.211G>T chr1 158089777 158089778 IPNMDB_338 - D10537(MPZ):c.[..241C>T..] chr1 158089681 158089682 IPNMDB_338 - D10537(MPZ):c.[..337G>T..] chr1 158089776 158089777 IPNMDB_53 - D10537(MPZ):c.242A>G chr1 158089774 158089775 IPNMDB_850 - D10537(MPZ):c.244T>C chr1 158089773 158089774 IPNMDB_54 - D10537(MPZ):c.245A>G chr1 158089753 158089761 IPNMDB_55 - D10537(MPZ):c.258_265delACCCTACAinsCCTCT chr1 158089752 158089753 IPNMDB_371 - D10537(MPZ):c.[..266T>A..] chr1 158089744 158089745 IPNMDB_371 - D10537(MPZ):c.[..274G>A..] chr1 158089289 158089290 IPNMDB_371 - D10537(MPZ):c.[..486C>G..] chr1 158089748 158089749 IPNMDB_56 - D10537(MPZ):c.270C>A chr1 158089742 158089743 IPNMDB_97 - D10537(MPZ):c.276G>A chr1 158089740 158089741 IPNMDB_57 - D10537(MPZ):c.278G>A chr1 158089732 158089733 IPNMDB_58 - D10537(MPZ):c.286A>G chr1 158089728 158089729 IPNMDB_542 - D10537(MPZ):c.290A>T chr1 158089726 158089727 IPNMDB_61 - D10537(MPZ):c.292C>A chr1 158089726 158089727 IPNMDB_59 - D10537(MPZ):c.292C>T chr1 158089725 158089726 IPNMDB_60 - D10537(MPZ):c.293G>A chr1 158089725 158089726 IPNMDB_62 - D10537(MPZ):c.293G>C chr1 158089722 158089723 IPNMDB_63 - D10537(MPZ):c.296T>C chr1 158089715 158089716 IPNMDB_64 - D10537(MPZ):c.303G>C chr1 158089712 158089713 IPNMDB_65 - D10537(MPZ):c.306delA chr1 158089710 158089711 IPNMDB_578 - D10537(MPZ):c.308G>A chr1 158089705 158089706 IPNMDB_901 - D10537(MPZ):c.313C>A chr1 158089693 158089694 IPNMDB_421 - D10537(MPZ):c.325G>A chr1 158089691 158089692 IPNMDB_414 - D10537(MPZ):c.327T>A chr1 158089689 158089690 IPNMDB_560 - D10537(MPZ):c.329G>A chr1 158089683 158089684 IPNMDB_66 - D10537(MPZ):c.335T>C chr1 158089681 158089682 IPNMDB_627 - D10537(MPZ):c.337G>A chr1 158089677 158089678 IPNMDB_67 - D10537(MPZ):c.[..341T>C..] chr1 158089672 158089673 IPNMDB_67 - D10537(MPZ):c.[..346A>C..] chr1 158089636 158089637 IPNMDB_67 - D10537(MPZ):c.[..382G>A..] chr1 158089666 158089667 IPNMDB_722 - D10537(MPZ):c.352G>A chr1 158089662 158089664 IPNMDB_68 - D10537(MPZ):c.355_356insTCTACT chr1 158089662 158089663 IPNMDB_331 - D10537(MPZ):c.356A>G chr1 158089653 158089654 IPNMDB_69 - D10537(MPZ):c.365A>G chr1 158089651 158089652 IPNMDB_372 - D10537(MPZ):c.367G>T chr1 158089651 158089652 IPNMDB_776 - D10537(MPZ):c.367G>A chr1 158089647 158089648 IPNMDB_413 - D10537(MPZ):c.371C>A chr1 158089647 158089648 IPNMDB_70 - D10537(MPZ):c.371C>T chr1 158089641 158089647 IPNMDB_71 - D10537(MPZ):c.372_377delGTTCAC chr1 158089638 158089639 IPNMDB_72 - D10537(MPZ):c.380G>A chr1 158089636 158089637 IPNMDB_418 - D10537(MPZ):c.382G>A chr1 158089634 158089635 IPNMDB_73 - D10537(MPZ):c.384C>G chr1 158089629 158089630 IPNMDB_74 - D10537(MPZ):c.389A>G chr1 158089625 158089626 IPNMDB_424 - D10537(MPZ):c.393C>A chr1 158089623 158089624 IPNMDB_75 - D10537(MPZ):c.395C>T chr1 158089618 158089619 IPNMDB_77 - D10537(MPZ):c.400G>A chr1 158089617 158089618 IPNMDB_341 - D10537(MPZ):c.401A>G chr1 158089616 158089617 IPNMDB_76 - D10537(MPZ):c.402C>A chr1 158089615 158089616 IPNMDB_78 - D10537(MPZ):c.403A>C chr1 158089614 158089615 IPNMDB_79 - D10537(MPZ):c.404T>C chr1 158089611 158089612 IPNMDB_373 - D10537(MPZ):c.407T>A chr1 158089609 158089610 IPNMDB_80 - D10537(MPZ):c.409G>A chr1 158089604 158089605 IPNMDB_342 - D10537(MPZ):c.414G>C chr1 158089602 158089603 IPNMDB_343 - D10537(MPZ):c.416C>A chr1 158089600 158089601 IPNMDB_575 - D10537(MPZ):c.418T>A chr1 158089597 158089598 IPNMDB_490 - D10537(MPZ):c.421C>T chr1 158089590 158089591 IPNMDB_81 - D10537(MPZ):c.428C>T chr1 158089584 158089585 IPNMDB_362 - D10537(MPZ):c.434A>C chr1 158089582 158089583 IPNMDB_439 - D10537(MPZ):c.436G>T chr1 158089327 158089328 IPNMDB_82 - D10537(MPZ):c.449-1G>C chr1 158089327 158089328 IPNMDB_723 - D10537(MPZ):c.449-1G>T chr1 158089313 158089314 IPNMDB_83 - D10537(MPZ):c.462C>A chr1 158089288 158089289 IPNMDB_84 - D10537(MPZ):c.487G>A chr1 158089279 158089280 IPNMDB_86 - D10537(MPZ):c.[..496delC..] chr1 158089276 158089277 IPNMDB_86 - D10537(MPZ):c.[..499G>C..] chr1 158089276 158089277 IPNMDB_85 - D10537(MPZ):c.499G>A chr1 158089269 158089270 IPNMDB_426 - D10537(MPZ):c.506delT chr1 158089250 158089254 IPNMDB_88 - D10537(MPZ):c.522_525delGCTT chr1 158089232 158089233 IPNMDB_89 - D10537(MPZ):c.543C>G chr1 158089225 158089227 IPNMDB_922 - D10537(MPZ):c.549_550insG chr1 158089223 158089226 IPNMDB_369 - D10537(MPZ):c.550_552delCTAinsG chr1 158089221 158089222 IPNMDB_90 - D10537(MPZ):c.554delG chr1 158089211 158089213 IPNMDB_87 - D10537(MPZ):c.563_564insAGGC chr1 158089205 158089206 IPNMDB_699 - D10537(MPZ):c.570delG chr1 158089189 158089190 IPNMDB_848 - D10537(MPZ):c.584+2T>G chr1 158089015 158089016 IPNMDB_98 - D10537(MPZ):c.600G>A chr1 158089000 158089002 IPNMDB_91 - D10537(MPZ):c.614_615insGGGAAATTGCACAAGCC chr1 158088999 158089000 IPNMDB_430 - D10537(MPZ):c.616G>T chr1 158088978 158088979 IPNMDB_557 - D10537(MPZ):c.637G>C chr1 158088972 158088973 IPNMDB_92 - D10537(MPZ):c.643C>T chr1 158088969 158088970 IPNMDB_684 - D10537(MPZ):c.645+1G>T chr1 158088822 158088824 IPNMDB_93 - D10537(MPZ):c.662_663insGC chr1 158088808 158088810 IPNMDB_94 - D10537(MPZ):c.676_677insCA chr1 158088801 158088802 IPNMDB_99 - D10537(MPZ):c.684C>T chr1 158088783 158088787 IPNMDB_95 - D10537(MPZ):c.699_702delTGAG chr1 158088777 158088780 IPNMDB_576 - D10537(MPZ):c.706_708delAAG chr1 158088779 158088780 IPNMDB_724 - D10537(MPZ):c.706A>G chr1 158088754 158088755 IPNMDB_100 - D10537(MPZ):c.731G>T chr11 95296758 95296759 IPNMDB_493 - NM_003912(MTMR2):c.8C>A chr11 95235142 95235143 IPNMDB_498 - NM_003912(MTMR2):c.[..298G>A..] chr11 95235132 95235133 IPNMDB_502 - NM_003912(MTMR2):c.[..308G>A..] chr11 95235116 95235117 IPNMDB_503 - NM_003912(MTMR2):c.[..324delG..] chr11 95223533 95223535 IPNMDB_735 - NM_003912(MTMR2):c.681_682ins446 chr11 95222652 95222653 IPNMDB_433 - NM_003912(MTMR2):c.[..826G>T..] chr11 95222652 95222653 IPNMDB_433 - NM_003912(MTMR2):c.[..c.826G>T..] chr11 95210905 95211019 IPNMDB_433 - NM_003912(MTMR2):c.[..1480_1593del..] chr11 95222634 95222638 IPNMDB_736 - NM_003912(MTMR2):c.[..841_844delATCA..] chr11 95222631 95222632 IPNMDB_634 - NM_003912(MTMR2):c.[..847C>T..] chr11 95220573 95220574 IPNMDB_495 - NM_003912(MTMR2):c.1131T>C chr11 95217917 95217918 IPNMDB_496 - NM_003912(MTMR2):c.1233G>A chr11 95217917 95217918 IPNMDB_501 - NM_003912(MTMR2):c.1233G>T chr11 95217874 95217875 IPNMDB_432 - NM_003912(MTMR2):c.[..1276C>T..] chr11 95214463 95214464 IPNMDB_434 - NM_003912(MTMR2):c.[..1444C>T..] chr11 95210994 95210995 IPNMDB_497 - NM_003912(MTMR2):c.1504G>C chr11 95209095 95209096 IPNMDB_499 - NM_003912(MTMR2):c.[..1634A>G..] chr11 95208993 95208994 IPNMDB_435 - NM_003912(MTMR2):c.[..1736delATTACATAAGinsCC..] chr11 95208980 95208981 IPNMDB_779 - NM_003912(MTMR2):c.1749G>A chr11 95208228 95208229 IPNMDB_500 - NM_003912(MTMR2):c.[..1805C>G..] chr8 134339798 134339799 IPNMDB_436 - NM_006096(NDRG1):c.[..442C>T..] chr8 134336020 134336021 IPNMDB_33 - NM_006096(NDRG1):c.[..538-1G>A..] chr8 24869927 24869928 IPNMDB_594 - NM_006158.2(NEFL):c.[..19G>A..] chr8 24869923 24869924 IPNMDB_594 - NM_006158.2(NEFL):c.[..23C>G..] chr8 24869924 24869925 IPNMDB_520 - NM_006158.2(NEFL):c.[..22C>A..] chr8 24869923 24869924 IPNMDB_520 - NM_006158.2(NEFL):c.[..23C>G..] chr8 24869923 24869924 IPNMDB_597 - NM_006158.2(NEFL):c.23C>A chr8 24869923 24869924 IPNMDB_595 - NM_006158.2(NEFL):c.23C>G chr8 24869923 24869924 IPNMDB_596 - NM_006158.2(NEFL):c.23C>T chr8 24869886 24869899 IPNMDB_863 - NM_006158.2(NEFL):c.48_60dupGCGCTACGTGGAG chr8 24869882 24869883 IPNMDB_586 - NM_006158.2(NEFL):c.64C>A chr8 24869882 24869883 IPNMDB_583 - NM_006158.2(NEFL):c.64C>T chr8 24869754 24869755 IPNMDB_602 - NM_006158.2(NEFL):c.192G>A chr8 24869719 24869720 IPNMDB_591 - NM_006158.2(NEFL):c.227T>C chr8 24869678 24869679 IPNMDB_598 - NM_006158.2(NEFL):c.268G>A chr8 24869667 24869668 IPNMDB_592 - NM_006158.2(NEFL):c.279G>A chr8 24869665 24869666 IPNMDB_913 - NM_006158.2(NEFL):c.281T>C chr8 24869653 24869654 IPNMDB_588 - NM_006158.2(NEFL):c.293A>G chr8 24869523 24869524 IPNMDB_603 - NM_006158.2(NEFL):c.423G>A chr8 24869500 24869501 IPNMDB_589 - NM_006158.2(NEFL):c.446C>T chr8 24869307 24869308 IPNMDB_816 - NM_006158.2(NEFL):c.639C>G chr8 24869279 24869280 IPNMDB_604 - NM_006158.2(NEFL):c.667C>T chr8 24869226 24869227 IPNMDB_605 - NM_006158.2(NEFL):c.720C>T chr8 24868951 24868952 IPNMDB_437 - NM_006158.2(NEFL):c.995A>C chr8 24868948 24868949 IPNMDB_728 - NM_006158.2(NEFL):c.998T>C chr8 24867209 24867210 IPNMDB_417 - NM_006158.2(NEFL):c.1186G>A chr8 24867183 24867184 IPNMDB_606 - NM_006158.2(NEFL):c.1212C>T chr8 24866993 24866994 IPNMDB_607 - NM_006158.2(NEFL):c.1402G>A chr8 24866936 24866937 IPNMDB_608 - NM_006158.2(NEFL):c.1458C>T chr8 24866379 24866380 IPNMDB_593 - NM_006158.2(NEFL):c.1492G>A chr8 24866297 24866299 IPNMDB_748 - NM_006158.2(NEFL):c.1573_1574insG chr8 24866290 24866293 IPNMDB_600 - NM_006158.2(NEFL):c.1579_1581delGAG chr1 115540797 115540798 IPNMDB_396 - NM_002506(NGFB):c.[..661C>T..] chr1 153643823 153643824 IPNMDB_442 + NM_002529(NTRK1):c.[..25C>T..] chr1 153643823 153643824 IPNMDB_442 + NM_002529(NTRK1):c.[..c.25C>T..] chr1 153661990 153661991 IPNMDB_442 + NM_002529(NTRK1):c.[..1810C>T..] chr1 153662018 153662019 IPNMDB_442 + NM_002529(NTRK1):c.[..1838G>T..] chr1 153643998 153643999 IPNMDB_449 + NM_002529(NTRK1):c.[..200delA..] chr1 153647258 153647259 IPNMDB_443 + NM_002529(NTRK1):c.[..253C>A..] chr1 153647258 153647259 IPNMDB_443 + NM_002529(NTRK1):c.[..c.253C>A..] chr1 153650967 153650968 IPNMDB_443 + NM_002529(NTRK1):c.[..429-1G>C..] chr1 153647283 153647284 IPNMDB_454 + NM_002529(NTRK1):c.278T>C chr1 153647668 153647669 IPNMDB_806 + NM_002529(NTRK1):c.[..359+5G>T..] chr1 153649805 153649807 IPNMDB_455 + NM_002529(NTRK1):c.[..391_392delTC..] chr1 153651029 153651030 IPNMDB_456 + NM_002529(NTRK1):c.490G>T chr1 153651065 153651066 IPNMDB_691 + NM_002529(NTRK1):c.[..526C>T..] chr1 153651082 153651083 IPNMDB_805 + NM_002529(NTRK1):c.[..543delG..] chr1 153651114 153651115 IPNMDB_541 + NM_002529(NTRK1):c.[..574+1G>A..] chr1 153661990 153661991 IPNMDB_541 + NM_002529(NTRK1):c.[..c.1810C>T..] chr1 153662018 153662019 IPNMDB_541 + NM_002529(NTRK1):c.[..1838G>T..] chr1 153662023 153662024 IPNMDB_541 + NM_002529(NTRK1):c.[..1843G>T..] chr1 153662029 153662030 IPNMDB_541 + NM_002529(NTRK1):c.[..1849G>T..] chr1 153651432 153651433 IPNMDB_453 + NM_002529(NTRK1):c.[..638T>C..] chr1 153656570 153656577 IPNMDB_453 + NM_002529(NTRK1):c.[..924_930delGCCGGCA..] chr1 153651432 153651433 IPNMDB_700 + NM_002529(NTRK1):c.[..638T>C..] chr1 153658998 153658999 IPNMDB_700 + NM_002529(NTRK1):c.[..1556delG..] chr1 153651512 153651513 IPNMDB_697 + NM_002529(NTRK1):c.[..717+1G>C..] chr1 153662960 153662961 IPNMDB_697 + NM_002529(NTRK1):c.[..2144T>C..] chr1 153654620 153654621 IPNMDB_451 + NM_002529(NTRK1):c.[..850+1G>A..] chr1 153656464 153656465 IPNMDB_457 + NM_002529(NTRK1):c.851-33T>A chr1 153656722 153656723 IPNMDB_535 + NM_002529(NTRK1):c.[..1076A>G..] chr1 153656723 153656724 IPNMDB_458 + NM_002529(NTRK1):c.1077C>A chr1 153657434 153657435 IPNMDB_695 + NM_002529(NTRK1):c.[..1196-1G>A..] chr1 153658964 153658966 IPNMDB_693 + NM_002529(NTRK1):c.[..1522_1523delCG..] chr1 153658973 153658975 IPNMDB_692 + NM_002529(NTRK1):c.[..1531_1532insGGACATCG..] chr1 153658997 153658998 IPNMDB_835 + NM_002529(NTRK1):c.[..1555G>C..] chr1 153664418 153664419 IPNMDB_835 + NM_002529(NTRK1):c.[..2303C>T..] chr1 153659006 153659007 IPNMDB_459 + NM_002529(NTRK1):c.1564G>A chr1 153659291 153659292 IPNMDB_444 + NM_002529(NTRK1):c.[..1660delC..] chr1 153659360 153659361 IPNMDB_445 + NM_002529(NTRK1):c.[..1729G>C..] chr1 153659385 153659386 IPNMDB_460 + NM_002529(NTRK1):c.1754delT chr1 153659435 153659436 IPNMDB_461 + NM_002529(NTRK1):c.1804C>T chr1 153662018 153662019 IPNMDB_538 + NM_002529(NTRK1):c.[..1838G>T..] chr1 153662040 153662042 IPNMDB_1 + NM_002529(NTRK1):c.[..1860_1861insT..] chr1 153662057 153662059 IPNMDB_804 + NM_002529(NTRK1):c.[..1877_1878insA..] chr1 153662067 153662068 IPNMDB_536 + NM_002529(NTRK1):c.1887C>T chr1 153662125 153662126 IPNMDB_450 + NM_002529(NTRK1):c.[..1945C>T..] chr1 153662140 153662141 IPNMDB_462 + NM_002529(NTRK1):c.1960C>T chr1 153662182 153662183 IPNMDB_463 + NM_002529(NTRK1):c.2002G>T chr1 153662229 153662230 IPNMDB_446 + NM_002529(NTRK1):c.[..2046+3A>C..] chr1 153662868 153662869 IPNMDB_540 + NM_002529(NTRK1):c.[..2052A>G..] chr1 153662900 153662901 IPNMDB_539 + NM_002529(NTRK1):c.[..2084C>T..] chr1 153662956 153662957 IPNMDB_452 + NM_002529(NTRK1):c.[..2140G>A..] chr1 153664386 153664387 IPNMDB_694 + NM_002529(NTRK1):c.[..2271C>G..] chr1 153664396 153664397 IPNMDB_694 + NM_002529(NTRK1):c.[..2281C>T..] chr1 153664396 153664397 IPNMDB_696 + NM_002529(NTRK1):c.[..2281C>T..] chr1 153664442 153664444 IPNMDB_464 + NM_002529(NTRK1):c.2327_2328insT chr1 153664454 153664455 IPNMDB_447 + NM_002529(NTRK1):c.[..2339G>C..] chr1 6463769 6463770 IPNMDB_931 - NM_020631.3(PLEKHG5):c.[..1940T>C..] chr17 15109301 15109302 IPNMDB_614 - NM_000304(PMP22):c.-141C>G chr17 15109294 15109295 IPNMDB_619 - NM_000304(PMP22):c.-134G>A chr17 15109200 15109201 IPNMDB_620 - NM_000304(PMP22):c.-40G>A chr17 15104758 15104759 IPNMDB_914 - NM_000304(PMP22):c.11delT chr17 15104749 15104751 IPNMDB_2 - NM_000304(PMP22):c.19_20delAG chr17 15104733 15104734 IPNMDB_3 - NM_000304(PMP22):c.36C>A chr17 15104722 15104723 IPNMDB_4 - NM_000304(PMP22):c.47T>C chr17 15104713 15104714 IPNMDB_5 - NM_000304(PMP22):c.56T>C chr17 15104704 15104705 IPNMDB_751 - NM_000304(PMP22):c.65C>T chr17 15104701 15104702 IPNMDB_743 - NM_000304(PMP22):c.68C>G chr17 15104691 15104697 IPNMDB_348 - NM_000304(PMP22):c.73_78delGTCAGC chr17 15104690 15104691 IPNMDB_6 - NM_000304(PMP22):c.78+1G>T chr17 15103231 15103232 IPNMDB_374 - NM_000304(PMP22):c.82T>C chr17 15103226 15103227 IPNMDB_34 - NM_000304(PMP22):c.87C>T chr17 15103225 15103226 IPNMDB_7 - NM_000304(PMP22):c.88G>A chr17 15103203 15103204 IPNMDB_337 - NM_000304(PMP22):c.110A>T chr17 15103134 15103135 IPNMDB_853 - NM_000304(PMP22):c.178+1G>C chr17 15083653 15083654 IPNMDB_504 - NM_000304(PMP22):c.179-1G>C chr17 15083654 15083655 IPNMDB_555 - NM_000304(PMP22):c.179-2A>G chr17 15083648 15083649 IPNMDB_8 - NM_000304(PMP22):c.183G>A chr17 15083638 15083639 IPNMDB_615 - NM_000304(PMP22):c.193G>T chr17 15083632 15083633 IPNMDB_364 - NM_000304(PMP22):c.199G>A chr17 15083632 15083633 IPNMDB_9 - NM_000304(PMP22):c.199G>C chr17 15083625 15083626 IPNMDB_10 - NM_000304(PMP22):c.206T>A chr17 15083619 15083620 IPNMDB_375 - NM_000304(PMP22):c.212T>C chr17 15083617 15083618 IPNMDB_13 - NM_000304(PMP22):c.214T>C chr17 15083616 15083617 IPNMDB_12 - NM_000304(PMP22):c.215C>G chr17 15083616 15083617 IPNMDB_11 - NM_000304(PMP22):c.215C>T chr17 15083604 15083605 IPNMDB_14 - NM_000304(PMP22):c.227G>T chr17 15083596 15083597 IPNMDB_16 - NM_000304(PMP22):c.235T>C chr17 15083595 15083596 IPNMDB_15 - NM_000304(PMP22):c.236C>G chr17 15083592 15083594 IPNMDB_17 - NM_000304(PMP22):c.238_239delCT chr17 15083592 15083593 IPNMDB_18 - NM_000304(PMP22):c.239T>C chr17 15083578 15083581 IPNMDB_19 - NM_000304(PMP22):c.251_253delTCT chr17 15083575 15083576 IPNMDB_621 - NM_000304(PMP22):c.256C>T chr17 15083554 15083555 IPNMDB_20 - NM_000304(PMP22):c.277G>C chr17 15083550 15083551 IPNMDB_22 - NM_000304(PMP22):c.281delG chr17 15083549 15083551 IPNMDB_21 - NM_000304(PMP22):c.281_282insG chr17 15083533 15083534 IPNMDB_23 - NM_000304(PMP22):c.298G>A chr17 15083532 15083533 IPNMDB_24 - NM_000304(PMP22):c.299G>A chr17 15083519 15083520 IPNMDB_622 - NM_000304(PMP22):c.312delT chr17 15083517 15083518 IPNMDB_25 - NM_000304(PMP22):c.314T>G chr17 15083513 15083514 IPNMDB_721 - NM_000304(PMP22):c.318delT chr17 15083511 15083512 IPNMDB_26 - NM_000304(PMP22):c.319+1G>A chr17 15075121 15075122 IPNMDB_27 - NM_000304(PMP22):c.320G>T chr17 15075116 15075117 IPNMDB_336 - NM_000304(PMP22):c.325T>C chr17 15075114 15075115 IPNMDB_703 - NM_000304(PMP22):c.327C>A chr17 15075114 15075115 IPNMDB_35 - NM_000304(PMP22):c.327C>T chr17 15075087 15075099 IPNMDB_635 - NM_000304(PMP22):c.343_354delGCCATCTACACG chr17 15075088 15075089 IPNMDB_28 - NM_000304(PMP22):c.353C>T chr17 15075088 15075089 IPNMDB_854 - NM_000304(PMP22):c.[..353C>T..] chr17 15075076 15075078 IPNMDB_508 - NM_000304(PMP22):c.364_365delCC chr17 15075069 15075070 IPNMDB_419 - NM_000304(PMP22):c.372G>A chr17 15075032 15075033 IPNMDB_37 - NM_000304(PMP22):c.409A>G chr17 15075007 15075009 IPNMDB_778 - NM_000304(PMP22):c.433_434insC chr17 15075007 15075008 IPNMDB_420 - NM_000304(PMP22):c.434delT chr17 15075001 15075002 IPNMDB_29 - NM_000304(PMP22):c.440T>G chr17 15074994 15074995 IPNMDB_428 - NM_000304(PMP22):c.447C>A chr17 15074993 15074994 IPNMDB_31 - NM_000304(PMP22):c.448G>T chr17 15074992 15074993 IPNMDB_30 - NM_000304(PMP22):c.449G>A chr17 15074973 15074974 IPNMDB_623 - NM_000304(PMP22):c.468G>A chr17 15074972 15074973 IPNMDB_32 - NM_000304(PMP22):c.[..469C>T..] chr17 15074942 15074943 IPNMDB_625 - NM_000304(PMP22):c.499T>A chrX 106688675 106688676 IPNMDB_937 + NM_002764.2(PRPS1):c.129A>C chrX 106690313 106690314 IPNMDB_936 + NM_002764.2(PRPS1):c.344T>C chr19 45601460 45601461 IPNMDB_878 - NM_181882(PRX):c.[..176T>C..] chr19 45593953 45593954 IPNMDB_878 - NM_181882(PRX):c.[..2145T>A..] chr19 45596500 45596501 IPNMDB_571 - NM_181882(PRX):c.[..247delC..] chr19 45596441 45596442 IPNMDB_529 - NM_181882(PRX):c.306C>T chr19 45595704 45595714 IPNMDB_855 - NM_181882(PRX):c.[..385_394dupATCCAGAGTC..] chr19 45592890 45592891 IPNMDB_855 - NM_181882(PRX):c.[..3208C>T..] chr19 45595512 45595513 IPNMDB_515 - NM_181882(PRX):c.[..586C>T..] chr19 45594996 45594997 IPNMDB_517 - NM_181882(PRX):c.[..1102C>T..] chr19 45593809 45593810 IPNMDB_517 - NM_181882(PRX):c.[..2289delT..] chr19 45594901 45594905 IPNMDB_811 - NM_181882(PRX):c.[..1194_1197delTTCC..] chr19 45594882 45594883 IPNMDB_522 - NM_181882(PRX):c.1216G>A chr19 45594615 45594616 IPNMDB_524 - NM_181882(PRX):c.1483G>C chr19 45594607 45594608 IPNMDB_530 - NM_181882(PRX):c.1491C>G chr19 45593953 45593954 IPNMDB_570 - NM_181882(PRX):c.[..2145T>A..] chr19 45593453 45593454 IPNMDB_528 - NM_181882(PRX):c.2645T>G chr19 45593443 45593444 IPNMDB_531 - NM_181882(PRX):c.2655T>C chr19 45593335 45593336 IPNMDB_527 - NM_181882(PRX):c.2763A>G chr19 45593311 45593312 IPNMDB_518 - NM_181882(PRX):c.[..2787delC..] chr19 45593311 45593312 IPNMDB_516 - NM_181882(PRX):c.[..2787delC..] chr19 45593241 45593242 IPNMDB_516 - NM_181882(PRX):c.[..2857C>T..] chr19 45592890 45592891 IPNMDB_701 - NM_181882(PRX):c.[..3208C>T..] chr19 45592850 45592851 IPNMDB_526 - NM_181882(PRX):c.3248C>G chr19 45592704 45592705 IPNMDB_525 - NM_181882(PRX):c.3394G>A chr19 45592323 45592324 IPNMDB_521 - NM_181882(PRX):c.3775G>A chr19 45592021 45592024 IPNMDB_523 - NM_181882(PRX):c.4075_4077delGAG chr3 130008116 130008117 IPNMDB_636 + NM_004637(RAB7):c.385C>T chr3 130009154 130009155 IPNMDB_852 + NM_004637(RAB7):c.471G>C chr3 130009165 130009166 IPNMDB_733 + NM_004637(RAB7):c.482A>C chr3 130009167 130009168 IPNMDB_637 + NM_004637(RAB7):c.484G>A chr11 9946604 9946605 IPNMDB_698 - NM_030962(SBF2):c.[..1459C>T..] chr11 9825137 9825138 IPNMDB_653 - NM_030962(SBF2):c.[..2875C>T..] chr11 9810412 9810413 IPNMDB_654 - NM_030962(SBF2):c.[..3586C>T..] chr11 9786121 9786122 IPNMDB_749 - NM_030962(SBF2):c.[..4443+1G>C..] chr17 72909974 72909975 IPNMDB_782 + NM_006640(SEPT9):c.262C>T chr17 72909990 72909991 IPNMDB_783 + NM_006640(SEPT9):c.278C>T chr5 148422752 148422753 IPNMDB_96 - NM_024577(SH3TC2):c.[..26delG..] chr5 148407669 148407680 IPNMDB_866 - NM_024577(SH3TC2):c.[..217_227delGCTGCTCGGAGinsCCAGTAA..] chr5 148387296 148387297 IPNMDB_866 - NM_024577(SH3TC2):c.[..2191delG..] chr5 148401374 148401375 IPNMDB_101 - NM_024577(SH3TC2):c.[..530-2A>G..] chr5 148398131 148398132 IPNMDB_867 - NM_024577(SH3TC2):c.[..920G>A..] chr5 148370026 148370027 IPNMDB_867 - NM_024577(SH3TC2):c.[..3326G>C..] chr5 148388439 148388440 IPNMDB_868 - NM_024577(SH3TC2):c.[..1171-1G>A..] chr5 148387901 148387902 IPNMDB_278 - NM_024577(SH3TC2):c.[..1586G>A..] chr5 148387739 148387741 IPNMDB_280 - NM_024577(SH3TC2):c.[..1747_1748delAG..] chr5 148387518 148387519 IPNMDB_285 - NM_024577(SH3TC2):c.[..1969G>A..] chr5 148387515 148387516 IPNMDB_869 - NM_024577(SH3TC2):c.[..1972C>T..] chr5 148387515 148387516 IPNMDB_355 - NM_024577(SH3TC2):c.[..1972C>T..] chr5 148386627 148386628 IPNMDB_355 - NM_024577(SH3TC2):c.[..2860C>T..] chr5 148387505 148387506 IPNMDB_872 - NM_024577(SH3TC2):c.[..1982T>C..] chr5 148386807 148386808 IPNMDB_872 - NM_024577(SH3TC2):c.[..2680C>T..] chr5 148386995 148386997 IPNMDB_356 - NM_024577(SH3TC2):c.[..2491_2492delAG..] chr5 148386845 148386846 IPNMDB_871 - NM_024577(SH3TC2):c.[..2642A>T..] chr5 148386627 148386628 IPNMDB_871 - NM_024577(SH3TC2):c.[..2860C>T..] chr5 148386777 148386778 IPNMDB_870 - NM_024577(SH3TC2):c.[..2710C>T..] chr5 148386658 148386659 IPNMDB_357 - NM_024577(SH3TC2):c.[..2829T>G..] chr5 148386627 148386628 IPNMDB_357 - NM_024577(SH3TC2):c.[..2860C>T..] chr5 148386627 148386628 IPNMDB_865 - NM_024577(SH3TC2):c.[..2860C>T..] chr5 148386627 148386628 IPNMDB_358 - NM_024577(SH3TC2):c.[..2860C>T..] chr5 148366710 148366711 IPNMDB_358 - NM_024577(SH3TC2):c.[..3601C>T..] chr5 148370027 148370028 IPNMDB_830 - NM_024577(SH3TC2):c.[..3325C>T..] chr5 148368743 148368744 IPNMDB_359 - NM_024577(SH3TC2):c.[..3341delC..] chr15 32323485 32323486 IPNMDB_647 - NM_133647.1(SLC12A6):c.[..2023C>T..] chr15 32320153 32320154 IPNMDB_644 - NM_133647.1(SLC12A6):c.[..2436delG..] chr15 32320153 32320154 IPNMDB_645 - NM_133647.1(SLC12A6):c.[..2436delG..] chr15 32330129 32330131 IPNMDB_645 - NM_133647.1(SLC12A6):c.[..1584_1585delCTinsG..] chr15 32316238 32316248 IPNMDB_921 - NM_133647.1(SLC12A6):c.[..2995_3004delCAGATGCTCC..] chr15 32316211 32316212 IPNMDB_646 - NM_133647.1(SLC12A6):c.[..3031C>T..] chr22 36694654 36694655 IPNMDB_659 - NM_006941(SOX10):c.748C>T chr22 36694607 36694608 IPNMDB_534 - NM_006941(SOX10):c.795delG chr22 36693991 36694003 IPNMDB_519 - NM_006941(SOX10):c.1400_1411delAAAGGGGGCCCT chr9 91921881 91921882 IPNMDB_509 - NM_006415(SPTLC1):c.398G>A chr9 91921880 91921881 IPNMDB_510 - NM_006415(SPTLC1):c.399T>G chr9 91909931 91909932 IPNMDB_511 - NM_006415(SPTLC1):c.431T>A chr9 91909910 91909911 IPNMDB_838 - NM_006415(SPTLC1):c.452G>T chr9 91880178 91880179 IPNMDB_675 - NM_006415(SPTLC1):c.1160G>C chr1 32945687 32945688 IPNMDB_801 - NM_003680.2(YARS):c.121G>A chr1 32941216 32941228 IPNMDB_803 - NM_003680.2(YARS):c.458_469delTAAAGCAGGTGG chr1 32932461 32932462 IPNMDB_802 - NM_003680.2(YARS):c.586G>A chr3 30708000 30708001 KinMutBase_TGFBR2_DNA:g.85628G>C + TGFBR2_DNA:g.85628G>C chr3 30707966 30707967 KinMutBase_TGFBR2_DNA:g.85594G>C + TGFBR2_DNA:g.85594G>C chr3 30690717 30690718 KinMutBase_TGFBR2_DNA:g.68345A>G + TGFBR2_DNA:g.68345A>G chr3 30688622 30688623 KinMutBase_TGFBR2_DNA:g.66250C>T + TGFBR2_DNA:g.66250C>T chr3 30688892 30688893 KinMutBase_TGFBR2_DNA:g.66520A>G + TGFBR2_DNA:g.66520A>G chrX 19965697 19965698 KinMutBase_RPS6KA3_DNA:g.79710T>G - RPS6KA3_DNA:g.79710T>G chrX 19987081 19987082 KinMutBase_RPS6KA3_DNA:g.58326G>T - RPS6KA3_DNA:g.58326G>T chrX 19939443 19939444 KinMutBase_RPS6KA3_DNA:g.105964G>A - RPS6KA3_DNA:g.105964G>A chrX 19981877 19981878 KinMutBase_RPS6KA3_DNA:g.63530G>T - RPS6KA3_DNA:g.63530G>T chrX 19942765 19942766 KinMutBase_RPS6KA3_DNA:g.102642C>T - RPS6KA3_DNA:g.102642C>T chrX 19945425 19945426 KinMutBase_RPS6KA3_DNA:g.99982C>T - RPS6KA3_DNA:g.99982C>T chrX 19954791 19954792 KinMutBase_RPS6KA3_DNA:g.90616C>T - RPS6KA3_DNA:g.90616C>T chrX 19964098 19964099 KinMutBase_RPS6KA3_DNA:g.81309C>T - RPS6KA3_DNA:g.81309C>T chrX 19972911 19972912 KinMutBase_RPS6KA3_DNA:g.72496C>T - RPS6KA3_DNA:g.72496C>T chrX 19972917 19972918 KinMutBase_RPS6KA3_DNA:g.72490C>T - RPS6KA3_DNA:g.72490C>T chrX 19981825 19981826 KinMutBase_RPS6KA3_DNA:g.63582delT - RPS6KA3_DNA:g.63582delT chrX 19981859 19981860 KinMutBase_RPS6KA3_DNA:g.63548delA - RPS6KA3_DNA:g.63548delA chrX 19972864 19972865 KinMutBase_RPS6KA3_DNA:g.72543T>G - RPS6KA3_DNA:g.72543T>G chrX 19950581 19950582 KinMutBase_RPS6KA3_DNA:g.94826G>A - RPS6KA3_DNA:g.94826G>A chrX 19971989 19971990 KinMutBase_RPS6KA3_DNA:g.73418G>T - RPS6KA3_DNA:g.73418G>T chrX 19965702 19965703 KinMutBase_RPS6KA3_DNA:g.79705C>T - RPS6KA3_DNA:g.79705C>T chr10 42935008 42935009 KinMutBase_RET_DNA:g.43492A>G + RET_DNA:g.43492A>G chr10 42933913 42933914 KinMutBase_RET_DNA:g.42397A>T + RET_DNA:g.42397A>T chr10 42935597 42935598 KinMutBase_RET_DNA:g.44081T>G + RET_DNA:g.44081T>G chr10 42933837 42933838 KinMutBase_RET_DNA:g.42321C>T + RET_DNA:g.42321C>T chr10 42933911 42933912 KinMutBase_RET_DNA:g.42395G>T + RET_DNA:g.42395G>T chr10 42933911 42933912 KinMutBase_RET_DNA:g.42395G>C + RET_DNA:g.42395G>C chr10 42937424 42937425 KinMutBase_RET_DNA:g.45908C>T + RET_DNA:g.45908C>T chr10 42939147 42939148 KinMutBase_RET_DNA:g.47631G>A + RET_DNA:g.47631G>A chr10 42935001 42935002 KinMutBase_RET_DNA:g.43485G>A + RET_DNA:g.43485G>A chr10 42935001 42935002 KinMutBase_RET_DNA:g.43485G>T + RET_DNA:g.43485G>T chr10 42937433 42937434 KinMutBase_RET_DNA:g.45917C>A + RET_DNA:g.45917C>A chr10 42933834 42933835 KinMutBase_RET_DNA:g.42318T>C + RET_DNA:g.42318T>C chr10 42939236 42939237 KinMutBase_RET_DNA:g.47720A>G + RET_DNA:g.47720A>G chr10 42935616 42935617 KinMutBase_RET_DNA:g.44100G>A + RET_DNA:g.44100G>A chr10 42939240 42939241 KinMutBase_RET_DNA:g.47724C>T + RET_DNA:g.47724C>T chr10 42937421 42937422 KinMutBase_RET_DNA:g.45905T>C + RET_DNA:g.45905T>C chr10 42937429 42937430 KinMutBase_RET_DNA:g.45913G>T + RET_DNA:g.45913G>T chr10 42933845 42933846 KinMutBase_RET_DNA:g.42329G>C + RET_DNA:g.42329G>C chr10 42932184 42932185 KinMutBase_RET_DNA:g.40668G>C + RET_DNA:g.40668G>C chr19 1172318 1172319 KinMutBase_STK11_DNA:g.15407delC + STK11_DNA:g.15407delC chr19 1172318 1172319 KinMutBase_STK11_DNA:g.15407C>T + STK11_DNA:g.15407C>T chr19 1172215 1172216 KinMutBase_STK11_DNA:g.15304delA + STK11_DNA:g.15304delA chr19 1172211 1172212 KinMutBase_STK11_DNA:g.15300delC + STK11_DNA:g.15300delC chr19 1170365 1170366 KinMutBase_STK11_DNA:g.13454delC + STK11_DNA:g.13454delC chr19 1171625 1171626 KinMutBase_STK11_DNA:g.14714G>A + STK11_DNA:g.14714G>A chr19 1171417 1171418 KinMutBase_STK11_DNA:g.14506G>A + STK11_DNA:g.14506G>A chr19 1171501 1171502 KinMutBase_STK11_DNA:g.14590G>A + STK11_DNA:g.14590G>A chr19 1171603 1171604 KinMutBase_STK11_DNA:g.14692G>A + STK11_DNA:g.14692G>A chr19 1158091 1158092 KinMutBase_STK11_DNA:g.1180C>G + STK11_DNA:g.1180C>G chr19 1172235 1172236 KinMutBase_STK11_DNA:g.15324C>A + STK11_DNA:g.15324C>A chr19 1171697 1171698 KinMutBase_STK11_DNA:g.14786delG + STK11_DNA:g.14786delG chr19 1171414 1171415 KinMutBase_STK11_DNA:g.14503C>T + STK11_DNA:g.14503C>T chr19 1172319 1172320 KinMutBase_STK11_DNA:g.15408delG + STK11_DNA:g.15408delG chr19 1158111 1158112 KinMutBase_STK11_DNA:g.1200T>C + STK11_DNA:g.1200T>C chr19 1158161 1158162 KinMutBase_STK11_DNA:g.1250A>T + STK11_DNA:g.1250A>T chr19 1172992 1172993 KinMutBase_STK11_DNA:g.16081delT + STK11_DNA:g.16081delT chr19 1171394 1171395 KinMutBase_STK11_DNA:g.14483G>A + STK11_DNA:g.14483G>A chr19 1158119 1158120 KinMutBase_STK11_DNA:g.1208G>T + STK11_DNA:g.1208G>T chr19 1158080 1158081 KinMutBase_STK11_DNA:g.1169G>T + STK11_DNA:g.1169G>T chr19 1171486 1171487 KinMutBase_STK11_DNA:g.14575G>T + STK11_DNA:g.14575G>T chr9 27196759 27196760 KinMutBase_TEK_DNA:g.49939C>T + TEK_DNA:g.49939C>T chrX 110245860 110245861 KinMutBase_PAK3_DNA:g.74385C>T + PAK3_DNA:g.74385C>T chr1 153662125 153662126 KinMutBase_NTRK1_DNA:g.19327C>T + NTRK1_DNA:g.19327C>T chr1 153659291 153659292 KinMutBase_NTRK1_DNA:g.16493delC + NTRK1_DNA:g.16493delC chr1 153659390 153659391 KinMutBase_NTRK1_DNA:g.16592A>G + NTRK1_DNA:g.16592A>G chr1 153661990 153661991 KinMutBase_NTRK1_DNA:g.19192C>T + NTRK1_DNA:g.19192C>T chr1 153662956 153662957 KinMutBase_NTRK1_DNA:g.20158G>A + NTRK1_DNA:g.20158G>A chr1 153662018 153662019 KinMutBase_NTRK1_DNA:g.19220G>T + NTRK1_DNA:g.19220G>T chr1 153659360 153659361 KinMutBase_NTRK1_DNA:g.16562G>C + NTRK1_DNA:g.16562G>C chr7 116017363 116017364 KinMutBase_MET_DNA:g.111955T>C + MET_DNA:g.111955T>C chr7 116017364 116017365 KinMutBase_MET_DNA:g.111956A>G + MET_DNA:g.111956A>G chr7 116017333 116017334 KinMutBase_MET_DNA:g.111925G>A + MET_DNA:g.111925G>A chr7 116016031 116016032 KinMutBase_MET_DNA:g.110623G>T + MET_DNA:g.110623G>T chr7 116017424 116017425 KinMutBase_MET_DNA:g.112016T>C + MET_DNA:g.112016T>C chr7 116012831 116012832 KinMutBase_MET_DNA:g.107423T>C + MET_DNA:g.107423T>C chr7 116016052 116016053 KinMutBase_MET_DNA:g.110644C>G + MET_DNA:g.110644C>G chr7 116017357 116017358 KinMutBase_MET_DNA:g.111949G>A + MET_DNA:g.111949G>A chr7 116017357 116017358 KinMutBase_MET_DNA:g.111949G>C + MET_DNA:g.111949G>C chr4 55435149 55435150 KinMutBase_KIT_DNA:g.71041delA + KIT_DNA:g.71041delA chr4 55435173 55435174 KinMutBase_KIT_DNA:g.71065A>C + KIT_DNA:g.71065A>C chr4 55435114 55435115 KinMutBase_KIT_DNA:g.71006delT + KIT_DNA:g.71006delT chr4 55435114 55435115 KinMutBase_KIT_DNA:g.71006T>A + KIT_DNA:g.71006T>A chr4 55435214 55435215 KinMutBase_KIT_DNA:g.71106G>A + KIT_DNA:g.71106G>A chr4 55443688 55443689 KinMutBase_KIT_DNA:g.79580A>C + KIT_DNA:g.79580A>C chr4 55440260 55440261 KinMutBase_KIT_DNA:g.76152A>G + KIT_DNA:g.76152A>G chr4 55440248 55440249 KinMutBase_KIT_DNA:g.76140A>T + KIT_DNA:g.76140A>T chr4 55435002 55435003 KinMutBase_KIT_DNA:g.70894G>A + KIT_DNA:g.70894G>A chr12 50596269 50596270 KinMutBase_ACVRL1_DNA:g.4745G>A + ACVRL1_DNA:g.4745G>A chr12 50596157 50596158 KinMutBase_ACVRL1_DNA:g.4633C>T + ACVRL1_DNA:g.4633C>T chr12 50599058 50599059 KinMutBase_ACVRL1_DNA:g.7534C>A + ACVRL1_DNA:g.7534C>A chr12 50596164 50596165 KinMutBase_ACVRL1_DNA:g.4640T>G + ACVRL1_DNA:g.4640T>G chr19 7070573 7070574 KinMutBase_INSR_DNA:g.175329G>C - INSR_DNA:g.175329G>C chr19 7071630 7071631 KinMutBase_INSR_DNA:g.174272G>T - INSR_DNA:g.174272G>T chr19 7071687 7071688 KinMutBase_INSR_DNA:g.174215G>A - INSR_DNA:g.174215G>A chr19 7071717 7071718 KinMutBase_INSR_DNA:g.174185G>A - INSR_DNA:g.174185G>A chr19 7073680 7073681 KinMutBase_INSR_DNA:g.172222G>A - INSR_DNA:g.172222G>A chr19 7071675 7071676 KinMutBase_INSR_DNA:g.174227C>T - INSR_DNA:g.174227C>T chr19 7071749 7071750 KinMutBase_INSR_DNA:g.174153G>A - INSR_DNA:g.174153G>A chr19 7073745 7073746 KinMutBase_INSR_DNA:g.172157delG - INSR_DNA:g.172157delG chr19 7073975 7073976 KinMutBase_INSR_DNA:g.171927A>G - INSR_DNA:g.171927A>G chr19 7071671 7071672 KinMutBase_INSR_DNA:g.174231G>C - INSR_DNA:g.174231G>C chr19 7073668 7073669 KinMutBase_INSR_DNA:g.172234C>A - INSR_DNA:g.172234C>A chr19 7073672 7073673 KinMutBase_INSR_DNA:g.172230G>A - INSR_DNA:g.172230G>A chr19 7076327 7076328 KinMutBase_INSR_DNA:g.169575C>A - INSR_DNA:g.169575C>A chr4 1774600 1774601 KinMutBase_FGFR3_DNA:g.12748A>C + FGFR3_DNA:g.12748A>C chr4 1774601 1774602 KinMutBase_FGFR3_DNA:g.12749C>G + FGFR3_DNA:g.12749C>G chr4 1774601 1774602 KinMutBase_FGFR3_DNA:g.12749C>A + FGFR3_DNA:g.12749C>A chr4 1775120 1775121 KinMutBase_FGFR3_DNA:g.13268A>T + FGFR3_DNA:g.13268A>T chr4 1775119 1775120 KinMutBase_FGFR3_DNA:g.13267A>G + FGFR3_DNA:g.13267A>G chr4 1774593 1774594 KinMutBase_FGFR3_DNA:g.12741A>G + FGFR3_DNA:g.12741A>G chr12 56431696 56431697 KinMutBase_CDK4_DNA:g.1072G>A - CDK4_DNA:g.1072G>A chr12 56431697 56431698 KinMutBase_CDK4_DNA:g.1071C>T - CDK4_DNA:g.1071C>T chr12 56431645 56431646 KinMutBase_CDK4_DNA:g.1123A>G - CDK4_DNA:g.1123A>G chr2 97812808 97812809 KinMutBase_ZAP70_DNA:g.14792C>A + ZAP70_DNA:g.14792C>A chr2 97812975 97812976 KinMutBase_ZAP70_DNA:g.14959A>A + ZAP70_DNA:g.14959A>A chr2 97812774 97812775 KinMutBase_ZAP70_DNA:g.14758C>T + ZAP70_DNA:g.14758C>T chr2 97813065 97813066 KinMutBase_ZAP70_DNA:g.15049A>T + ZAP70_DNA:g.15049A>T chr2 97812764 97812765 KinMutBase_ZAP70_DNA:g.14748delA + ZAP70_DNA:g.14748delA chr2 97812964 97812965 KinMutBase_ZAP70_DNA:g.14948G>A + ZAP70_DNA:g.14948G>A chr2 97812556 97812557 KinMutBase_ZAP70_DNA:g.14540C>T + ZAP70_DNA:g.14540C>T chrX 100414418 100414419 KinMutBase_U78027.1:g.68190A>C - U78027.1:g.68190A>C chrX 100418089 100418090 KinMutBase_U78027.1:g.64518A>T - U78027.1:g.64518A>T chrX 100415768 100415769 KinMutBase_U78027.1:g.66839T>C - U78027.1:g.66839T>C chrX 100411054 100411055 KinMutBase_U78027.1:g.71555T>C - U78027.1:g.71555T>C chrX 100417191 100417192 KinMutBase_U78027.1:g.65416G>A - U78027.1:g.65416G>A chrX 100414484 100414485 KinMutBase_U78027.1:g.68124G>C - U78027.1:g.68124G>C chrX 100415070 100415071 KinMutBase_U78027.1:g.67537T>A - U78027.1:g.67537T>A chrX 100417375 100417376 KinMutBase_U78027.1:g.65232C>T - U78027.1:g.65232C>T chrX 100414328 100414329 KinMutBase_U78027.1:g.68280G>T - U78027.1:g.68280G>T chrX 100415080 100415081 KinMutBase_U78027.1:g.67527A>T - U78027.1:g.67527A>T chrX 100415819 100415820 KinMutBase_U78027.1:g.66788G>A - U78027.1:g.66788G>A chrX 100417217 100417218 KinMutBase_U78027.1:g.65390C>A - U78027.1:g.65390C>A chrX 100417225 100417226 KinMutBase_U78027.1:g.65382A>G - U78027.1:g.65382A>G chrX 100415002 100415003 KinMutBase_U78027.1:g.67605G>T - U78027.1:g.67605G>T chrX 100417365 100417366 KinMutBase_U78027.1:g.65242G>A - U78027.1:g.65242G>A chrX 100417371 100417372 KinMutBase_U78027.1:g.65236T>A - U78027.1:g.65236T>A chrX 100414442 100414443 KinMutBase_U78027.1:g.68166T>G - U78027.1:g.68166T>G chrX 100414424 100414425 KinMutBase_U78027.1:g.68184delA - U78027.1:g.68184delA chrX 100414453 100414454 KinMutBase_U78027.1:g.68155G>A - U78027.1:g.68155G>A chrX 100417244 100417245 KinMutBase_U78027.1:g.65363C>G - U78027.1:g.65363C>G chrX 100415036 100415038 KinMutBase_U78027.1:g.67570_67571insT - U78027.1:g.67570_67571insT chrX 100418687 100418688 KinMutBase_U78027.1:g.63920dupG - U78027.1:g.63920dupG chrX 100415007 100415008 KinMutBase_U78027.1:g.67600C>T - U78027.1:g.67600C>T chrX 100414379 100414380 KinMutBase_U78027.1:g.68229C>A - U78027.1:g.68229C>A chrX 100418615 100418617 KinMutBase_U78027.1:g.63991_63992insGGTAGAAAAAA - U78027.1:g.63991_63992insGGTAGAAAAAA chrX 100414366 100414367 KinMutBase_U78027.1:g.68242C>T - U78027.1:g.68242C>T chrX 100417233 100417234 KinMutBase_U78027.1:g.65374G>A - U78027.1:g.65374G>A chrX 100417990 100417991 KinMutBase_U78027.1:g.64617C>A - U78027.1:g.64617C>A chrX 100415814 100415815 KinMutBase_U78027.1:g.66793T>A - U78027.1:g.66793T>A chrX 100415812 100415813 KinMutBase_U78027.1:g.66795delT - U78027.1:g.66795delT chrX 100417324 100417325 KinMutBase_U78027.1:g.65283T>G - U78027.1:g.65283T>G chrX 100417354 100417355 KinMutBase_U78027.1:g.65253A>T - U78027.1:g.65253A>T chrX 100417394 100417395 KinMutBase_U78027.1:g.65213delT - U78027.1:g.65213delT chrX 100418002 100418003 KinMutBase_U78027.1:g.64605G>A - U78027.1:g.64605G>A chrX 100414396 100414397 KinMutBase_U78027.1:g.68212G>A - U78027.1:g.68212G>A chrX 100417389 100417390 KinMutBase_U78027.1:g.65218A>G - U78027.1:g.65218A>G chrX 100415835 100415839 KinMutBase_U78027.1:g.66769_66772delTTTG - U78027.1:g.66769_66772delTTTG chrX 100417218 100417220 KinMutBase_U78027.1:g.65388_65389insG - U78027.1:g.65388_65389insG chrX 100415041 100415042 KinMutBase_U78027.1:g.67566delT - U78027.1:g.67566delT chrX 100415053 100415054 KinMutBase_U78027.1:g.67554G>A - U78027.1:g.67554G>A chrX 100414388 100414389 KinMutBase_U78027.1:g.68220C>T - U78027.1:g.68220C>T chrX 100415068 100415069 KinMutBase_U78027.1:g.67539C>T - U78027.1:g.67539C>T chrX 100415826 100415827 KinMutBase_U78027.1:g.66781delG - U78027.1:g.66781delG chrX 100414346 100414348 KinMutBase_U78027.1:g.68261_68262insT - U78027.1:g.68261_68262insT chrX 100417365 100417366 KinMutBase_U78027.1:g.65242G>T - U78027.1:g.65242G>T chrX 100414414 100414415 KinMutBase_U78027.1:g.68194C>A - U78027.1:g.68194C>A chrX 100417215 100417216 KinMutBase_U78027.1:g.65392T>C - U78027.1:g.65392T>C chrX 100415820 100415821 KinMutBase_U78027.1:g.66787C>T - U78027.1:g.66787C>T chrX 100415007 100415008 KinMutBase_U78027.1:g.67600delC - U78027.1:g.67600delC chrX 100418645 100418646 KinMutBase_U78027.1:g.63962A>G - U78027.1:g.63962A>G chrX 100417234 100417235 KinMutBase_U78027.1:g.65373T>C - U78027.1:g.65373T>C chrX 100417239 100417240 KinMutBase_U78027.1:g.65368A>T - U78027.1:g.65368A>T chrX 100411075 100411076 KinMutBase_U78027.1:g.71534G>A - U78027.1:g.71534G>A chrX 100414350 100414351 KinMutBase_U78027.1:g.68258C>T - U78027.1:g.68258C>T chrX 100414342 100414343 KinMutBase_U78027.1:g.68266delA - U78027.1:g.68266delA chrX 100414333 100414334 KinMutBase_U78027.1:g.68275G>C - U78027.1:g.68275G>C chrX 100414468 100414469 KinMutBase_U78027.1:g.68140A>G - U78027.1:g.68140A>G chrX 100415004 100415005 KinMutBase_U78027.1:g.67603T>C - U78027.1:g.67603T>C chrX 100417395 100417396 KinMutBase_U78027.1:g.65212T>C - U78027.1:g.65212T>C chrX 100418639 100418640 KinMutBase_U78027.1:g.63968delT - U78027.1:g.63968delT chrX 100414441 100414442 KinMutBase_U78027.1:g.68167A>G - U78027.1:g.68167A>G chrX 100418038 100418039 KinMutBase_U78027.1:g.64569dupG - U78027.1:g.64569dupG chrX 100415761 100415762 KinMutBase_U78027.1:g.66846G>T - U78027.1:g.66846G>T chrX 100415813 100415814 KinMutBase_U78027.1:g.66794G>T - U78027.1:g.66794G>T chrX 100417944 100417945 KinMutBase_U78027.1:g.64663G>T - U78027.1:g.64663G>T chrX 100414325 100414326 KinMutBase_U78027.1:g.68283G>T - U78027.1:g.68283G>T chrX 100415805 100415806 KinMutBase_U78027.1:g.66802delA - U78027.1:g.66802delA chrX 100415009 100415010 KinMutBase_U78027.1:g.67598G>A - U78027.1:g.67598G>A chrX 100417233 100417234 KinMutBase_U78027.1:g.65374G>T - U78027.1:g.65374G>T chrX 100415059 100415060 KinMutBase_U78027.1:g.67548C>A - U78027.1:g.67548C>A chrX 100417977 100417978 KinMutBase_U78027.1:g.64630A>G - U78027.1:g.64630A>G chrX 100414471 100414472 KinMutBase_U78027.1:g.68137G>A - U78027.1:g.68137G>A chrX 100417223 100417224 KinMutBase_U78027.1:g.65384G>A - U78027.1:g.65384G>A chrX 100417183 100417184 KinMutBase_U78027.1:g.65424G>C - U78027.1:g.65424G>C chrX 100415761 100415762 KinMutBase_U78027.1:g.66846G>C - U78027.1:g.66846G>C chrX 100414454 100414455 KinMutBase_U78027.1:g.68154G>C - U78027.1:g.68154G>C chrX 100411088 100411090 KinMutBase_U78027.1:g.71520_71521insT - U78027.1:g.71520_71521insT chrX 100411065 100411066 KinMutBase_U78027.1:g.71544C>A - U78027.1:g.71544C>A chrX 100417192 100417193 KinMutBase_U78027.1:g.65415C>T - U78027.1:g.65415C>T chrX 100415076 100415077 KinMutBase_U78027.1:g.67531T>C - U78027.1:g.67531T>C chrX 100414379 100414380 KinMutBase_U78027.1:g.68229C>T - U78027.1:g.68229C>T chrX 100415120 100415121 KinMutBase_U78027.1:g.67487G>T - U78027.1:g.67487G>T chrX 100415815 100415816 KinMutBase_U78027.1:g.66792C>G - U78027.1:g.66792C>G chrX 100415123 100415124 KinMutBase_U78027.1:g.67484C>A - U78027.1:g.67484C>A chrX 100411057 100411058 KinMutBase_U78027.1:g.71552T>G - U78027.1:g.71552T>G chrX 100418642 100418643 KinMutBase_U78027.1:g.63965C>A - U78027.1:g.63965C>A chrX 100411072 100411073 KinMutBase_U78027.1:g.71537delC - U78027.1:g.71537delC chrX 100415091 100415092 KinMutBase_U78027.1:g.67516C>G - U78027.1:g.67516C>G chrX 100414345 100414346 KinMutBase_U78027.1:g.68263T>A - U78027.1:g.68263T>A chrX 100414400 100414401 KinMutBase_U78027.1:g.68208delC - U78027.1:g.68208delC chrX 100414340 100414341 KinMutBase_U78027.1:g.68268delA - U78027.1:g.68268delA chrX 100417977 100417978 KinMutBase_U78027.1:g.64630delA - U78027.1:g.64630delA chrX 100415067 100415068 KinMutBase_U78027.1:g.67540G>C - U78027.1:g.67540G>C chrX 100414474 100414475 KinMutBase_U78027.1:g.68134T>C - U78027.1:g.68134T>C chrX 100415814 100415815 KinMutBase_U78027.1:g.66793delT - U78027.1:g.66793delT chrX 100414370 100414371 KinMutBase_U78027.1:g.68238G>C - U78027.1:g.68238G>C chrX 100414421 100414423 KinMutBase_U78027.1:g.68186_68187insG - U78027.1:g.68186_68187insG chrX 100418643 100418644 KinMutBase_U78027.1:g.63964dupA - U78027.1:g.63964dupA chrX 100414436 100414437 KinMutBase_U78027.1:g.68172A>T - U78027.1:g.68172A>T chrX 100415828 100415829 KinMutBase_U78027.1:g.66779A>C - U78027.1:g.66779A>C chrX 100415763 100415764 KinMutBase_U78027.1:g.66844A>G - U78027.1:g.66844A>G chrX 100417911 100417912 KinMutBase_U78027.1:g.64696G>T - U78027.1:g.64696G>T chrX 100414336 100414337 KinMutBase_U78027.1:g.68272G>A - U78027.1:g.68272G>A chrX 100417183 100417184 KinMutBase_U78027.1:g.65424G>T - U78027.1:g.65424G>T chrX 100415064 100415065 KinMutBase_U78027.1:g.67543G>T - U78027.1:g.67543G>T chrX 100417189 100417190 KinMutBase_U78027.1:g.65418G>A - U78027.1:g.65418G>A chrX 100414352 100414354 KinMutBase_U78027.1:g.68255_68256insC - U78027.1:g.68255_68256insC chrX 100418662 100418663 KinMutBase_U78027.1:g.63945delT - U78027.1:g.63945delT chrX 100414445 100414446 KinMutBase_U78027.1:g.68163C>A - U78027.1:g.68163C>A chrX 100415064 100415065 KinMutBase_U78027.1:g.67543G>A - U78027.1:g.67543G>A chrX 100414484 100414485 KinMutBase_U78027.1:g.68124G>T - U78027.1:g.68124G>T chrX 100415825 100415826 KinMutBase_U78027.1:g.66782C>A - U78027.1:g.66782C>A chrX 100418686 100418688 KinMutBase_U78027.1:g.63920_63921ins6 - U78027.1:g.63920_63921ins6 chrX 100414384 100414386 KinMutBase_U78027.1:g.68223_68224insC - U78027.1:g.68223_68224insC chrX 100415779 100415780 KinMutBase_U78027.1:g.66828delT - U78027.1:g.66828delT chrX 100418094 100418096 KinMutBase_U78027.1:g.64512_64513insC - U78027.1:g.64512_64513insC chrX 100417322 100417323 KinMutBase_U78027.1:g.65285delC - U78027.1:g.65285delC chrX 100414324 100414326 KinMutBase_U78027.1:g.68283_68284insC - U78027.1:g.68283_68284insC chrX 100417225 100417226 KinMutBase_U78027.1:g.65382dupA - U78027.1:g.65382dupA chrX 100411045 100411046 KinMutBase_U78027.1:g.71564delT - U78027.1:g.71564delT chrX 100417188 100417189 KinMutBase_U78027.1:g.65419A>G - U78027.1:g.65419A>G chrX 100418042 100418043 KinMutBase_U78027.1:g.64565T>C - U78027.1:g.64565T>C chrX 100411042 100411043 KinMutBase_U78027.1:g.71567T>C - U78027.1:g.71567T>C chrX 100414400 100414401 KinMutBase_U78027.1:g.68208C>T - U78027.1:g.68208C>T chrX 100415762 100415763 KinMutBase_U78027.1:g.66845G>A - U78027.1:g.66845G>A chrX 100411076 100411077 KinMutBase_U78027.1:g.71533C>T - U78027.1:g.71533C>T chrX 100414332 100414333 KinMutBase_U78027.1:g.68276G>A - U78027.1:g.68276G>A chrX 100417224 100417225 KinMutBase_U78027.1:g.65383T>C - U78027.1:g.65383T>C chrX 100417283 100417284 KinMutBase_U78027.1:g.65324delG - U78027.1:g.65324delG chrX 100418652 100418653 KinMutBase_U78027.1:g.63955dupG - U78027.1:g.63955dupG chrX 100417320 100417321 KinMutBase_U78027.1:g.65287T>G - U78027.1:g.65287T>G chrX 100417261 100417262 KinMutBase_U78027.1:g.65346C>T - U78027.1:g.65346C>T chrX 100414999 100415001 KinMutBase_U78027.1:g.67607_67608insT - U78027.1:g.67607_67608insT chrX 100415039 100415040 KinMutBase_U78027.1:g.67568dupT - U78027.1:g.67568dupT chrX 100414357 100414358 KinMutBase_U78027.1:g.68251T>G - U78027.1:g.68251T>G chrX 100415054 100415055 KinMutBase_U78027.1:g.67553delG - U78027.1:g.67553delG chrX 100414343 100414344 KinMutBase_U78027.1:g.68265delT - U78027.1:g.68265delT chrX 100417930 100417931 KinMutBase_U78027.1:g.64677A>C - U78027.1:g.64677A>C chrX 100411066 100411067 KinMutBase_U78027.1:g.71543T>C - U78027.1:g.71543T>C chrX 100418673 100418674 KinMutBase_U78027.1:g.63934A>T - U78027.1:g.63934A>T chrX 100417910 100417911 KinMutBase_U78027.1:g.64697T>G - U78027.1:g.64697T>G chrX 100417248 100417249 KinMutBase_U78027.1:g.65359T>C - U78027.1:g.65359T>C chrX 100414997 100414998 KinMutBase_U78027.1:g.67610G>A - U78027.1:g.67610G>A chrX 100415826 100415828 KinMutBase_U78027.1:g.66780_66781insA - U78027.1:g.66780_66781insA chrX 100418025 100418026 KinMutBase_U78027.1:g.64582G>A - U78027.1:g.64582G>A chrX 100414461 100414462 KinMutBase_U78027.1:g.68147C>A - U78027.1:g.68147C>A chrX 100415820 100415821 KinMutBase_U78027.1:g.66787C>G - U78027.1:g.66787C>G chrX 100415084 100415085 KinMutBase_U78027.1:g.67523delC - U78027.1:g.67523delC chrX 100417192 100417193 KinMutBase_U78027.1:g.65415C>G - U78027.1:g.65415C>G chrX 100415058 100415059 KinMutBase_U78027.1:g.67549C>T - U78027.1:g.67549C>T chrX 100417911 100417912 KinMutBase_U78027.1:g.64696G>A - U78027.1:g.64696G>A chrX 100417197 100417198 KinMutBase_U78027.1:g.65410T>G - U78027.1:g.65410T>G chrX 100414345 100414346 KinMutBase_U78027.1:g.68263T>C - U78027.1:g.68263T>C chrX 100415027 100415028 KinMutBase_U78027.1:g.67580C>A - U78027.1:g.67580C>A chrX 100417274 100417275 KinMutBase_U78027.1:g.65333delC - U78027.1:g.65333delC chrX 100414329 100414330 KinMutBase_U78027.1:g.68279dupT - U78027.1:g.68279dupT chrX 100418062 100418063 KinMutBase_U78027.1:g.64545delC - U78027.1:g.64545delC chrX 100414388 100414389 KinMutBase_U78027.1:g.68220delC - U78027.1:g.68220delC chrX 100415011 100415012 KinMutBase_U78027.1:g.67596T>C - U78027.1:g.67596T>C chrX 100415056 100415057 KinMutBase_U78027.1:g.67551C>T - U78027.1:g.67551C>T chrX 100415781 100415782 KinMutBase_U78027.1:g.66826T>C - U78027.1:g.66826T>C chrX 100414355 100414356 KinMutBase_U78027.1:g.68253T>C - U78027.1:g.68253T>C chrX 100417979 100417980 KinMutBase_U78027.1:g.64628T>A - U78027.1:g.64628T>A chrX 100417284 100417285 KinMutBase_U78027.1:g.65323delT - U78027.1:g.65323delT chrX 100415783 100415784 KinMutBase_U78027.1:g.66824T>A - U78027.1:g.66824T>A chrX 100415819 100415820 KinMutBase_U78027.1:g.66788G>C - U78027.1:g.66788G>C chrX 100414399 100414400 KinMutBase_U78027.1:g.68209A>C - U78027.1:g.68209A>C chrX 100418683 100418684 KinMutBase_U78027.1:g.63924C>T - U78027.1:g.63924C>T chrX 100415796 100415797 KinMutBase_U78027.1:g.66811delG - U78027.1:g.66811delG chrX 100415771 100415772 KinMutBase_U78027.1:g.66836G>A - U78027.1:g.66836G>A chrX 100414330 100414331 KinMutBase_U78027.1:g.68278delA - U78027.1:g.68278delA chrX 100417245 100417246 KinMutBase_U78027.1:g.65362G>T - U78027.1:g.65362G>T chrX 100417293 100417294 KinMutBase_U78027.1:g.65314T>C - U78027.1:g.65314T>C chrX 100414466 100414467 KinMutBase_U78027.1:g.68142delA - U78027.1:g.68142delA chrX 100414460 100414461 KinMutBase_U78027.1:g.68148T>C - U78027.1:g.68148T>C chrX 100414459 100414460 KinMutBase_U78027.1:g.68149C>A - U78027.1:g.68149C>A chrX 100417295 100417296 KinMutBase_U78027.1:g.65312C>A - U78027.1:g.65312C>A chrX 100414371 100414372 KinMutBase_U78027.1:g.68237delG - U78027.1:g.68237delG chrX 100414467 100414468 KinMutBase_U78027.1:g.68141A>T - U78027.1:g.68141A>T chrX 100417976 100417977 KinMutBase_U78027.1:g.64631A>G - U78027.1:g.64631A>G chrX 100414454 100414455 KinMutBase_U78027.1:g.68154G>A - U78027.1:g.68154G>A chrX 100414405 100414407 KinMutBase_U78027.1:g.68202_68203insC - U78027.1:g.68202_68203insC chrX 100415002 100415003 KinMutBase_U78027.1:g.67605delG - U78027.1:g.67605delG chrX 100417915 100417916 KinMutBase_U78027.1:g.64692G>A - U78027.1:g.64692G>A chrX 100414379 100414380 KinMutBase_U78027.1:g.68229C>G - U78027.1:g.68229C>G chrX 100414475 100414476 KinMutBase_U78027.1:g.68133A>C - U78027.1:g.68133A>C chrX 100417244 100417245 KinMutBase_U78027.1:g.65363C>A - U78027.1:g.65363C>A chrX 100415046 100415047 KinMutBase_U78027.1:g.67561T>C - U78027.1:g.67561T>C chrX 100418013 100418014 KinMutBase_U78027.1:g.64594T>C - U78027.1:g.64594T>C chrX 100417915 100417916 KinMutBase_U78027.1:g.64692G>T - U78027.1:g.64692G>T chrX 100417189 100417190 KinMutBase_U78027.1:g.65418G>C - U78027.1:g.65418G>C chr2 112482273 112482274 KinMutBase_MERTK_DNA:g.110731C>T + MERTK_DNA:g.110731C>T chr2 112483864 112483865 KinMutBase_MERTK_DNA:g.112322delA + MERTK_DNA:g.112322delA chr4 55440187 55440188 KinMutBase_KIT_DNA:g.76079A>G + KIT_DNA:g.76079A>G chr4 55443645 55443646 KinMutBase_KIT_DNA:g.79537A>C + KIT_DNA:g.79537A>C chr4 55440247 55440248 KinMutBase_KIT_DNA:g.76139G>C + KIT_DNA:g.76139G>C chr4 55435148 55435149 KinMutBase_KIT_DNA:g.71040delA + KIT_DNA:g.71040delA chr4 55440172 55440173 KinMutBase_KIT_DNA:g.76064A>G + KIT_DNA:g.76064A>G chr4 55440236 55440237 KinMutBase_KIT_DNA:g.76128G>T + KIT_DNA:g.76128G>T chr4 55440247 55440248 KinMutBase_KIT_DNA:g.76139G>T + KIT_DNA:g.76139G>T chr4 55443895 55443896 KinMutBase_KIT_DNA:g.79787delA + KIT_DNA:g.79787delA chr4 1774600 1774601 KinMutBase_FGFR3_DNA:g.12748A>G + FGFR3_DNA:g.12748A>G chr4 1775121 1775122 KinMutBase_FGFR3_DNA:g.13269G>T + FGFR3_DNA:g.13269G>T chr4 1775121 1775122 KinMutBase_FGFR3_DNA:g.13269G>C + FGFR3_DNA:g.13269G>C chr4 1775119 1775120 KinMutBase_FGFR3_DNA:g.13267A>C + FGFR3_DNA:g.13267A>C chr9 91566170 91566171 KinMutBase_ROR2_DNA:g.226829G>A - ROR2_DNA:g.226829G>A chr9 91566470 91566471 KinMutBase_ROR2_DNA:g.226529T>A - ROR2_DNA:g.226529T>A chr9 91566826 91566827 KinMutBase_ROR2_DNA:g.226173C>T - ROR2_DNA:g.226173C>T chr22 27416410 27416411 KinMutBase_CHEK2_DNA:g.49841delC - CHEK2_DNA:g.49841delC chr22 27414612 27414613 KinMutBase_CHEK2_DNA:g.51639delT - CHEK2_DNA:g.51639delT chr5 179979348 179979349 KinMutBase_FLT4_DNA:g.30803G>A - FLT4_DNA:g.30803G>A chr5 179976069 179976070 KinMutBase_FLT4_DNA:g.34082G>C - FLT4_DNA:g.34082G>C chr5 179976060 179976061 KinMutBase_FLT4_DNA:g.34091T>C - FLT4_DNA:g.34091T>C chr5 179972706 179972707 KinMutBase_FLT4_DNA:g.37445C>T - FLT4_DNA:g.37445C>T chr5 179976087 179976088 KinMutBase_FLT4_DNA:g.34064A>G - FLT4_DNA:g.34064A>G chr19 1170350 1170351 KinMutBase_STK11_DNA:g.13439G>C + STK11_DNA:g.13439G>C chr19 1171487 1171488 KinMutBase_STK11_DNA:g.14576A>T + STK11_DNA:g.14576A>T chr19 1169445 1169446 KinMutBase_STK11_DNA:g.12534delC + STK11_DNA:g.12534delC chr19 1169447 1169448 KinMutBase_STK11_DNA:g.12536A>G + STK11_DNA:g.12536A>G chr19 1172243 1172244 KinMutBase_STK11_DNA:g.15332A>C + STK11_DNA:g.15332A>C chr19 1171675 1171676 KinMutBase_STK11_DNA:g.14764T>C + STK11_DNA:g.14764T>C chr19 1172974 1172975 KinMutBase_STK11_DNA:g.16063G>A + STK11_DNA:g.16063G>A chr19 1171486 1171487 KinMutBase_STK11_DNA:g.14575G>A + STK11_DNA:g.14575G>A chr19 1158068 1158069 KinMutBase_STK11_DNA:g.1157dupG + STK11_DNA:g.1157dupG chr12 50595500 50595501 KinMutBase_ACVRL1_DNA:g.3976G>T + ACVRL1_DNA:g.3976G>T chr12 50595426 50595427 KinMutBase_ACVRL1_DNA:g.3902C>A + ACVRL1_DNA:g.3902C>A chr12 50595366 50595367 KinMutBase_ACVRL1_DNA:g.3842dupT + ACVRL1_DNA:g.3842dupT chr19 17806695 17806696 KinMutBase_JAK3_DNA:g.14105G>A - JAK3_DNA:g.14105G>A chr19 17809746 17809747 KinMutBase_JAK3_DNA:g.11054C>A - JAK3_DNA:g.11054C>A chr19 17806454 17806455 KinMutBase_JAK3_DNA:g.14346T>C - JAK3_DNA:g.14346T>C chr19 17808957 17808958 KinMutBase_JAK3_DNA:g.11843G>T - JAK3_DNA:g.11843G>T chr19 17808979 17808980 KinMutBase_JAK3_DNA:g.11821C>T - JAK3_DNA:g.11821C>T chr19 17802335 17802336 KinMutBase_JAK3_DNA:g.18465delC - JAK3_DNA:g.18465delC chr19 17803558 17803559 KinMutBase_JAK3_DNA:g.17242T>C - JAK3_DNA:g.17242T>C chr19 17802338 17802339 KinMutBase_JAK3_DNA:g.18462C>A - JAK3_DNA:g.18462C>A chrX 19987083 19987084 KinMutBase_RPS6KA3_DNA:g.58324A>C - RPS6KA3_DNA:g.58324A>C chrX 19987067 19987068 KinMutBase_RPS6KA3_DNA:g.58340G>A - RPS6KA3_DNA:g.58340G>A chrX 19972905 19972906 KinMutBase_RPS6KA3_DNA:g.72502C>T - RPS6KA3_DNA:g.72502C>T chrX 19972889 19972890 KinMutBase_RPS6KA3_DNA:g.72518G>C - RPS6KA3_DNA:g.72518G>C chrX 19971288 19971289 KinMutBase_RPS6KA3_DNA:g.74119T>A - RPS6KA3_DNA:g.74119T>A chrX 19971277 19971278 KinMutBase_RPS6KA3_DNA:g.74130G>A - RPS6KA3_DNA:g.74130G>A chrX 19965684 19965685 KinMutBase_RPS6KA3_DNA:g.79723C>T - RPS6KA3_DNA:g.79723C>T chrX 19987100 19987101 KinMutBase_RPS6KA3_DNA:g.58307G>T - RPS6KA3_DNA:g.58307G>T chrX 19964110 19964111 KinMutBase_RPS6KA3_DNA:g.81297C>T - RPS6KA3_DNA:g.81297C>T chrX 19965649 19965650 KinMutBase_RPS6KA3_DNA:g.79758C>T - RPS6KA3_DNA:g.79758C>T chrX 19954772 19954773 KinMutBase_RPS6KA3_DNA:g.90635T>A - RPS6KA3_DNA:g.90635T>A chrX 19950520 19950521 KinMutBase_RPS6KA3_DNA:g.94887G>C - RPS6KA3_DNA:g.94887G>C chrX 19947219 19947220 KinMutBase_RPS6KA3_DNA:g.98188T>G - RPS6KA3_DNA:g.98188T>G chrX 19947196 19947197 KinMutBase_RPS6KA3_DNA:g.98211A>G - RPS6KA3_DNA:g.98211A>G chrX 19945490 19945491 KinMutBase_RPS6KA3_DNA:g.99917T>G - RPS6KA3_DNA:g.99917T>G chrX 19945478 19945479 KinMutBase_RPS6KA3_DNA:g.99929T>G - RPS6KA3_DNA:g.99929T>G chrX 19942827 19942828 KinMutBase_RPS6KA3_DNA:g.102580A>T - RPS6KA3_DNA:g.102580A>T chrX 19942805 19942806 KinMutBase_RPS6KA3_DNA:g.102602C>A - RPS6KA3_DNA:g.102602C>A chrX 19942678 19942679 KinMutBase_RPS6KA3_DNA:g.102729C>T - RPS6KA3_DNA:g.102729C>T chrX 19939519 19939520 KinMutBase_RPS6KA3_DNA:g.105888A>G - RPS6KA3_DNA:g.105888A>G chrX 19942738 19942739 KinMutBase_RPS6KA3_DNA:g.102669C>T - RPS6KA3_DNA:g.102669C>T chr9 27202707 27202708 KinMutBase_TEK_DNA:g.55887A>C + TEK_DNA:g.55887A>C chr1 153659006 153659007 KinMutBase_NTRK1_DNA:g.16208G>A + NTRK1_DNA:g.16208G>A chr1 153659435 153659436 KinMutBase_NTRK1_DNA:g.16637C>T + NTRK1_DNA:g.16637C>T chr1 153662140 153662141 KinMutBase_NTRK1_DNA:g.19342C>T + NTRK1_DNA:g.19342C>T chr1 153662200 153662201 KinMutBase_NTRK1_DNA:g.19402G>T + NTRK1_DNA:g.19402G>T chr1 153664443 153664444 KinMutBase_NTRK1_DNA:g.21645dupT + NTRK1_DNA:g.21645dupT chr1 153664454 153664455 KinMutBase_NTRK1_DNA:g.21656G>C + NTRK1_DNA:g.21656G>C chr1 153662900 153662901 KinMutBase_NTRK1_DNA:g.20102C>T + NTRK1_DNA:g.20102C>T chr1 153662040 153662042 KinMutBase_NTRK1_DNA:g.19242_19243insT + NTRK1_DNA:g.19242_19243insT chr12 42458307 42458308 KinMutBase_AY186092.1:g.21175C>T + AY186092.1:g.21175C>T chr12 42457803 42457804 KinMutBase_AY186092.1:g.20671delT + AY186092.1:g.20671delT chr12 42453110 42453111 KinMutBase_AY186092.1:g.15978delA + AY186092.1:g.15978delA chr10 42933842 42933843 KinMutBase_RET_DNA:g.42326T>G + RET_DNA:g.42326T>G chr10 42935544 42935545 KinMutBase_RET_DNA:g.44028G>A + RET_DNA:g.44028G>A chr10 42935603 42935604 KinMutBase_RET_DNA:g.44087T>C + RET_DNA:g.44087T>C chr10 42935645 42935646 KinMutBase_RET_DNA:g.44129A>G + RET_DNA:g.44129A>G chr10 42939261 42939262 KinMutBase_RET_DNA:g.47745T>C + RET_DNA:g.47745T>C chr10 42937429 42937430 KinMutBase_RET_DNA:g.45913G>A + RET_DNA:g.45913G>A chr10 42932100 42932101 KinMutBase_RET_DNA:g.40584G>A + RET_DNA:g.40584G>A chr10 42939148 42939149 KinMutBase_RET_DNA:g.47632G>C + RET_DNA:g.47632G>C chr10 42939227 42939228 KinMutBase_RET_DNA:g.47711C>T + RET_DNA:g.47711C>T chr10 42935578 42935579 KinMutBase_RET_DNA:g.44062G>C + RET_DNA:g.44062G>C chr10 42933852 42933853 KinMutBase_RET_DNA:g.42336G>A + RET_DNA:g.42336G>A chr10 42935029 42935030 KinMutBase_RET_DNA:g.43513G>A + RET_DNA:g.43513G>A chr10 42937433 42937434 KinMutBase_RET_DNA:g.45917C>T + RET_DNA:g.45917C>T chr19 1173986 1173987 KinMutBase_STK11_DNA:g.17075G>T + STK11_DNA:g.17075G>T chr19 1171432 1171433 KinMutBase_STK11_DNA:g.14521G>A + STK11_DNA:g.14521G>A chr19 1171480 1171481 KinMutBase_STK11_DNA:g.14569dupA + STK11_DNA:g.14569dupA chr19 1172987 1172988 KinMutBase_STK11_DNA:g.16076delG + STK11_DNA:g.16076delG chr19 1158069 1158070 KinMutBase_STK11_DNA:g.1158delA + STK11_DNA:g.1158delA chr19 1171376 1171377 KinMutBase_STK11_DNA:g.14465T>C + STK11_DNA:g.14465T>C chr19 1170401 1170402 KinMutBase_STK11_DNA:g.13490C>T + STK11_DNA:g.13490C>T chr19 1171447 1171448 KinMutBase_STK11_DNA:g.14536A>T + STK11_DNA:g.14536A>T chr19 1173985 1173986 KinMutBase_STK11_DNA:g.17074G>A + STK11_DNA:g.17074G>A chr19 1171639 1171640 KinMutBase_STK11_DNA:g.14728C>T + STK11_DNA:g.14728C>T chr7 116017378 116017379 KinMutBase_MET_DNA:g.111970T>G + MET_DNA:g.111970T>G chr7 116012957 116012958 KinMutBase_MET_DNA:g.107549C>T + MET_DNA:g.107549C>T chr7 116017425 116017426 KinMutBase_MET_DNA:g.112017G>A + MET_DNA:g.112017G>A chr7 116017406 116017407 KinMutBase_MET_DNA:g.111998A>G + MET_DNA:g.111998A>G chr7 116011414 116011415 KinMutBase_MET_DNA:g.106006A>G + MET_DNA:g.106006A>G chr7 116011413 116011414 KinMutBase_MET_DNA:g.106005C>T + MET_DNA:g.106005C>T chr7 116011449 116011450 KinMutBase_MET_DNA:g.106041C>G + MET_DNA:g.106041C>G chr7 116011407 116011408 KinMutBase_MET_DNA:g.105999G>A + MET_DNA:g.105999G>A chr4 55443621 55443622 KinMutBase_KIT_DNA:g.79513G>A + KIT_DNA:g.79513G>A chr10 42935573 42935574 KinMutBase_RET_DNA:g.44057G>T + RET_DNA:g.44057G>T chr13 113373879 113373880 KinMutBase_RHOK_DNA:g.1001C>T + RHOK_DNA:g.1001C>T chr13 113373975 113373976 KinMutBase_RHOK_DNA:g.1097A>G + RHOK_DNA:g.1097A>G chr22 27432527 27432528 KinMutBase_CHEK2_DNA:g.33724G>T - CHEK2_DNA:g.33724G>T chr22 27432527 27432528 KinMutBase_CHEK2_DNA:g.33724G>A - CHEK2_DNA:g.33724G>A chr22 27432491 27432492 KinMutBase_CHEK2_DNA:g.33760A>T - CHEK2_DNA:g.33760A>T chr22 27420434 27420435 KinMutBase_CHEK2_DNA:g.45817G>A - CHEK2_DNA:g.45817G>A chr22 27420420 27420421 KinMutBase_CHEK2_DNA:g.45831A>C - CHEK2_DNA:g.45831A>C chr22 27420407 27420408 KinMutBase_CHEK2_DNA:g.45844A>G - CHEK2_DNA:g.45844A>G chr22 27414607 27414608 KinMutBase_CHEK2_DNA:g.51644C>A - CHEK2_DNA:g.51644C>A chr19 7190894 7190895 KinMutBase_FGFR1_DNA:g.55008T>A - FGFR1_DNA:g.55008T>A chr4 55440267 55440268 KinMutBase_KIT_DNA:g.76159T>A + KIT_DNA:g.76159T>A chr4 55440268 55440269 KinMutBase_KIT_DNA:g.76160T>G + KIT_DNA:g.76160T>G chr4 55440269 55440270 KinMutBase_KIT_DNA:g.76161A>G + KIT_DNA:g.76161A>G chr4 55440203 55440204 KinMutBase_KIT_DNA:g.76095C>T + KIT_DNA:g.76095C>T chr4 55435148 55435149 KinMutBase_KIT_DNA:g.71040A>C + KIT_DNA:g.71040A>C chr4 55440259 55440260 KinMutBase_KIT_DNA:g.76151G>T + KIT_DNA:g.76151G>T chr4 55435148 55435149 KinMutBase_KIT_DNA:g.71040A>G + KIT_DNA:g.71040A>G chr4 55440265 55440266 KinMutBase_KIT_DNA:g.76157A>C + KIT_DNA:g.76157A>C chr4 55438422 55438423 KinMutBase_KIT_DNA:g.74314delA + KIT_DNA:g.74314delA chr4 55436545 55436546 KinMutBase_KIT_DNA:g.72437delA + KIT_DNA:g.72437delA chr4 55440245 55440246 KinMutBase_KIT_DNA:g.76137G>A + KIT_DNA:g.76137G>A chr4 1775120 1775121 KinMutBase_FGFR3_DNA:g.13268A>C + FGFR3_DNA:g.13268A>C chr10 123248025 123248026 KinMutBase_FGFR2_DNA:g.100882A>C - FGFR2_DNA:g.100882A>C chr10 123246204 123246205 KinMutBase_FGFR2_DNA:g.102703A>G - FGFR2_DNA:g.102703A>G chr10 123237558 123237559 KinMutBase_FGFR2_DNA:g.111349A>G - FGFR2_DNA:g.111349A>G chr10 123237503 123237504 KinMutBase_FGFR2_DNA:g.111404G>T - FGFR2_DNA:g.111404G>T chr10 123236926 123236927 KinMutBase_FGFR2_DNA:g.111981G>A - FGFR2_DNA:g.111981G>A chr10 123236882 123236883 KinMutBase_FGFR2_DNA:g.112025A>G - FGFR2_DNA:g.112025A>G chr19 7076447 7076448 KinMutBase_INSR_DNA:g.169455G>T - INSR_DNA:g.169455G>T chr19 7076387 7076388 KinMutBase_INSR_DNA:g.169515C>T - INSR_DNA:g.169515C>T chr19 7073903 7073904 KinMutBase_INSR_DNA:g.171999C>T - INSR_DNA:g.171999C>T chr19 7073725 7073726 KinMutBase_INSR_DNA:g.172177T>C - INSR_DNA:g.172177T>C chr19 7073681 7073682 KinMutBase_INSR_DNA:g.172221C>T - INSR_DNA:g.172221C>T chr19 7071688 7071689 KinMutBase_INSR_DNA:g.174214C>T - INSR_DNA:g.174214C>T chr19 7071673 7071674 KinMutBase_INSR_DNA:g.174229G>A - INSR_DNA:g.174229G>A chr10 42935122 42935123 KinMutBase_RET_DNA:g.43606G>T + RET_DNA:g.43606G>T chr10 42940340 42940341 KinMutBase_RET_DNA:g.48824C>T + RET_DNA:g.48824C>T chr12 52110237 52110238 KinMutBase_U29700:g.7064delC + U29700:g.7064delC chr12 52105963 52105964 KinMutBase_U29700:g.2790T>G + U29700:g.2790T>G chr12 52110017 52110018 KinMutBase_U29700:g.6844A>G + U29700:g.6844A>G chr12 52110280 52110281 KinMutBase_U29700:g.7107T>C + U29700:g.7107T>C chr12 52111272 52111273 KinMutBase_U29700:g.8101G>C + U29700:g.8101G>C chr12 52111311 52111312 KinMutBase_U29700:g.8140C>T + U29700:g.8140C>T chr12 52109957 52109958 KinMutBase_U29700:g.6784G>A + U29700:g.6784G>A chr2 203209059 203209060 KinMutBase_BMPR2_DNA:g.142357C>T + BMPR2_DNA:g.142357C>T chr2 203209117 203209118 KinMutBase_BMPR2_DNA:g.142415delA + BMPR2_DNA:g.142415delA chr2 203209155 203209156 KinMutBase_BMPR2_DNA:g.142453G>T + BMPR2_DNA:g.142453G>T chr2 203221048 203221049 KinMutBase_BMPR2_DNA:g.154346C>T + BMPR2_DNA:g.154346C>T chr2 203221130 203221131 KinMutBase_BMPR2_DNA:g.154428delC + BMPR2_DNA:g.154428delC chr2 203222875 203222876 KinMutBase_BMPR2_DNA:g.156173delT + BMPR2_DNA:g.156173delT chr2 203222942 203222943 KinMutBase_BMPR2_DNA:g.156240T>C + BMPR2_DNA:g.156240T>C chr2 203243001 203243002 KinMutBase_BMPR2_DNA:g.176299C>T + BMPR2_DNA:g.176299C>T chr2 203221153 203221154 KinMutBase_BMPR2_DNA:g.154451delG + BMPR2_DNA:g.154451delG chr2 203243002 203243003 KinMutBase_BMPR2_DNA:g.176300G>A + BMPR2_DNA:g.176300G>A chr2 203209118 203209119 KinMutBase_BMPR2_DNA:g.142416A>T + BMPR2_DNA:g.142416A>T chr2 203242984 203242985 KinMutBase_BMPR2_DNA:g.176282A>G + BMPR2_DNA:g.176282A>G chr2 203221094 203221095 KinMutBase_BMPR2_DNA:g.154392G>A + BMPR2_DNA:g.154392G>A chr2 203209214 203209215 KinMutBase_BMPR2_DNA:g.142512dupT + BMPR2_DNA:g.142512dupT chr2 203222932 203222933 KinMutBase_BMPR2_DNA:g.156230delA + BMPR2_DNA:g.156230delA chr2 203222930 203222932 KinMutBase_BMPR2_DNA:g.156228_156229insG + BMPR2_DNA:g.156228_156229insG chr2 203242977 203242978 KinMutBase_BMPR2_DNA:g.176275T>C + BMPR2_DNA:g.176275T>C chr10 88667011 88667012 KinMutBase_BMPR1A_DNA:g.161628C>T + BMPR1A_DNA:g.161628C>T chr10 88669120 88669121 KinMutBase_BMPR1A_DNA:g.163737C>T + BMPR1A_DNA:g.163737C>T chr10 88669052 88669053 KinMutBase_BMPR1A_DNA:g.163669C>A + BMPR1A_DNA:g.163669C>A chr10 88669166 88669167 KinMutBase_BMPR1A_DNA:g.163783G>A + BMPR1A_DNA:g.163783G>A chr10 88666909 88666910 KinMutBase_BMPR1A_DNA:g.161526C>T + BMPR1A_DNA:g.161526C>T chr10 88667006 88667007 KinMutBase_BMPR1A_DNA:g.161623G>A + BMPR1A_DNA:g.161623G>A chr10 88669000 88669001 KinMutBase_BMPR1A_DNA:g.163617delC + BMPR1A_DNA:g.163617delC chr10 88666978 88666979 KinMutBase_BMPR1A_DNA:g.161595delG + BMPR1A_DNA:g.161595delG chr10 88667020 88667021 KinMutBase_BMPR1A_DNA:g.161637delG + BMPR1A_DNA:g.161637delG chr10 42933845 42933846 KinMutBase_RET_DNA:g.42329G>T + RET_DNA:g.42329G>T chr10 42935001 42935002 KinMutBase_RET_DNA:g.43485G>C + RET_DNA:g.43485G>C chr10 42933926 42933927 KinMutBase_RET_DNA:g.42410C>A + RET_DNA:g.42410C>A chr10 42937432 42937433 KinMutBase_RET_DNA:g.45916T>C + RET_DNA:g.45916T>C chr10 42937457 42937458 KinMutBase_RET_DNA:g.45941C>T + RET_DNA:g.45941C>T chr10 42935136 42935137 KinMutBase_RET_DNA:g.43620G>A + RET_DNA:g.43620G>A chr10 42935543 42935544 KinMutBase_RET_DNA:g.44027C>T + RET_DNA:g.44027C>T chr10 42935113 42935114 KinMutBase_RET_DNA:g.43597C>T + RET_DNA:g.43597C>T chr19 1171436 1171437 KinMutBase_STK11_DNA:g.14525T>A + STK11_DNA:g.14525T>A chr19 1172994 1172995 KinMutBase_STK11_DNA:g.16083C>T + STK11_DNA:g.16083C>T chr19 1171385 1171386 KinMutBase_STK11_DNA:g.14474T>C + STK11_DNA:g.14474T>C chr19 1171672 1171673 KinMutBase_STK11_DNA:g.14761T>C + STK11_DNA:g.14761T>C chr19 1158107 1158108 KinMutBase_STK11_DNA:g.1196G>A + STK11_DNA:g.1196G>A chr3 30688427 30688428 KinMutBase_TGFBR2_DNA:g.66055T>C + TGFBR2_DNA:g.66055T>C chr3 30690688 30690689 KinMutBase_TGFBR2_DNA:g.68316A>G + TGFBR2_DNA:g.68316A>G chr3 30704944 30704945 KinMutBase_TGFBR2_DNA:g.82572A>G + TGFBR2_DNA:g.82572A>G chr3 30688797 30688798 KinMutBase_TGFBR2_DNA:g.66425G>T + TGFBR2_DNA:g.66425G>T chr3 30688880 30688881 KinMutBase_TGFBR2_DNA:g.66508C>T + TGFBR2_DNA:g.66508C>T chrX 110243774 110243775 KinMutBase_PAK3_DNA:g.72299C>A + PAK3_DNA:g.72299C>A chr13 27490641 27490642 KinMutBase_FLT3_DNA:g.53109G>T - FLT3_DNA:g.53109G>T chr13 27490640 27490641 KinMutBase_FLT3_DNA:g.53110A>T - FLT3_DNA:g.53110A>T chr13 27490641 27490642 KinMutBase_FLT3_DNA:g.53109G>C - FLT3_DNA:g.53109G>C chr13 27490639 27490640 KinMutBase_FLT3_DNA:g.53111T>A - FLT3_DNA:g.53111T>A chr13 27490641 27490642 KinMutBase_FLT3_DNA:g.53109G>A - FLT3_DNA:g.53109G>A chr13 27490638 27490639 KinMutBase_FLT3_DNA:g.53112A>T - FLT3_DNA:g.53112A>T chr13 27490640 27490641 KinMutBase_FLT3_DNA:g.53110A>C - FLT3_DNA:g.53110A>C chr13 27490639 27490640 KinMutBase_FLT3_DNA:g.53111T>G - FLT3_DNA:g.53111T>G chr13 27490641 27490642 KinMutBase_FLT3_DNA:g.53109delG - FLT3_DNA:g.53109delG chr13 27500328 27500329 KinMutBase_FLT3_DNA:g.43422C>T - FLT3_DNA:g.43422C>T chr13 27490640 27490641 KinMutBase_FLT3_DNA:g.53110A>G - FLT3_DNA:g.53110A>G chr13 27490638 27490639 KinMutBase_FLT3_DNA:g.53112delA - FLT3_DNA:g.53112delA chr13 27490637 27490638 KinMutBase_FLT3_DNA:g.53113T>C - FLT3_DNA:g.53113T>C chr13 27490636 27490638 KinMutBase_FLT3_DNA:g.53113_53114insG - FLT3_DNA:g.53113_53114insG chr13 27490623 27490625 KinMutBase_FLT3_DNA:g.53126_53127insG - FLT3_DNA:g.53126_53127insG chr10 88673178 88673179 KinMutBase_BMPR1A_DNA:g.167795T>C + BMPR1A_DNA:g.167795T>C chr17 7856514 7856515 KinMutBase_AJ222657:g.8429G>A + AJ222657:g.8429G>A chr17 7853573 7853574 KinMutBase_AJ222657:g.6858T>C + AJ222657:g.6858T>C chr17 7856241 7856242 KinMutBase_AJ222657:g.8156delG + AJ222657:g.8156delG chr17 7852024 7852025 KinMutBase_AJ222657:g.5311C>T + AJ222657:g.5311C>T chr17 7857268 7857269 KinMutBase_AJ222657:g.9184A>G + AJ222657:g.9184A>G chr17 7856513 7856514 KinMutBase_AJ222657:g.8428C>T + AJ222657:g.8428C>T chr17 7857960 7857961 KinMutBase_AJ222657:g.9875C>T + AJ222657:g.9875C>T chr17 7857975 7857976 KinMutBase_AJ222657:g.9890A>C + AJ222657:g.9890A>C chr17 7858742 7858743 KinMutBase_AJ222657:g.10656C>T + AJ222657:g.10656C>T chr17 7858743 7858744 KinMutBase_AJ222657:g.10657G>A + AJ222657:g.10657G>A chr17 7858742 7858743 KinMutBase_AJ222657:g.10656C>A + AJ222657:g.10656C>A chr17 7858741 7858742 KinMutBase_AJ222657:g.10655G>C + AJ222657:g.10655G>C chr16 30675089 30675090 KinMutBase_PHKG2_DNA:g.8867G>A + PHKG2_DNA:g.8867G>A chr16 30675509 30675510 KinMutBase_PHKG2_DNA:g.9287G>A + PHKG2_DNA:g.9287G>A chr16 30670097 30670098 KinMutBase_PHKG2_DNA:g.3875delA + PHKG2_DNA:g.3875delA chr16 30672291 30672292 KinMutBase_PHKG2_DNA:g.6069G>A + PHKG2_DNA:g.6069G>A chr16 30670375 30670376 KinMutBase_PHKG2_DNA:g.4153delC + PHKG2_DNA:g.4153delC chr16 30669961 30669962 KinMutBase_PHKG2_DNA:g.3739C>T + PHKG2_DNA:g.3739C>T chr16 30672255 30672256 KinMutBase_PHKG2_DNA:g.6033C>T + PHKG2_DNA:g.6033C>T chr16 30675217 30675218 KinMutBase_PHKG2_DNA:g.8995T>G + PHKG2_DNA:g.8995T>G chr19 7076472 7076473 KinMutBase_INSR_DNA:g.169430C>T - INSR_DNA:g.169430C>T chr19 17806660 17806661 KinMutBase_JAK3_DNA:g.14140delG - JAK3_DNA:g.14140delG chr10 42935637 42935638 KinMutBase_RET_DNA:g.44121C>G + RET_DNA:g.44121C>G chr19 1158109 1158110 KinMutBase_STK11_DNA:g.1198delG + STK11_DNA:g.1198delG chr19 1172307 1172308 KinMutBase_STK11_DNA:g.15396delC + STK11_DNA:g.15396delC chr19 1158108 1158109 KinMutBase_STK11_DNA:g.1197dupT + STK11_DNA:g.1197dupT chr19 1171631 1171632 KinMutBase_STK11_DNA:g.14720delC + STK11_DNA:g.14720delC chr19 1171698 1171699 KinMutBase_STK11_DNA:g.14787G>C + STK11_DNA:g.14787G>C chr12 50596230 50596231 KinMutBase_ACVRL1_DNA:g.4706T>A + ACVRL1_DNA:g.4706T>A chrX 19972042 19972043 KinMutBase_RPS6KA3_DNA:g.73365delC - RPS6KA3_DNA:g.73365delC chrX 19971998 19971999 KinMutBase_RPS6KA3_DNA:g.73409delA - RPS6KA3_DNA:g.73409delA chrX 19964112 19964113 KinMutBase_RPS6KA3_DNA:g.81295T>C - RPS6KA3_DNA:g.81295T>C chr5 179978516 179978517 KinMutBase_FLT4_DNA:g.31635C>T - FLT4_DNA:g.31635C>T chr16 30675012 30675013 KinMutBase_PHKG2_DNA:g.8790G>A + PHKG2_DNA:g.8790G>A chr16 30670415 30670416 KinMutBase_PHKG2_DNA:g.4193T>A + PHKG2_DNA:g.4193T>A chr15 39583890 39583891 KinMutBase_LTK_DNA:g.10479G>A - LTK_DNA:g.10479G>A chr11 5090687 5209164 HbVar.989 - NG_000007.3:g.66258_184734del118477 chr11 5110111 5315999 HbVar.1055 - NG_000007.3:g.-40578_165310del199690 chr11 5110273 5223939 HbVar.1029 - NG_000007.3:g.51483_165148del113666 chr11 5122136 5215047 HbVar.1030 - NG_000007.3:g.60375_153285del92911 chr11 5131026 5215944 HbVar.1021 - NG_000007.3:g.59478_144395del84918 chr11 5136243 5220555 HbVar.1022 - NG_000007.3:g.54867_139178del84312 chr11 5147723 5226627 HbVar.1046 - NG_000007.3:g.48795_127698del78904 chr11 5150549 5229827 HbVar.1048 - NG_000007.3:g.45595_124872del79278 chr11 5172264 5222032 HbVar.1023 - NG_000007.3:g.53390_103157del49768 chr11 5175781 5229500 HbVar.1039 - NG_000007.3:g.45922_99640del52322 chr11 5185272 5228046 HbVar.1043 - NG_000007.3:g.47376_90149del41597 chr11 5190532 5226382 HbVar.1045 - NG_000007.3:g.49040_84889del35850 chr11 5192251 5224913 HbVar.1028 - NG_000007.3:g.50509_83170del32662 chr11 5193756 5230012 HbVar.1042 - NG_000007.3:g.45410_81665del36256 chr11 5194739 5207351 HbVar.987 - NG_000007.3:g.68071_80682del12612 chr11 5197683 5211086 HbVar.1035 - NG_000007.3:g.64336_77738del13403 chr11 5202870 5214892 HbVar.1031 - NG_000007.3:g.60530_72551del11822 chr11 5203194 5203813 HbVar.979 - NG_000007.3:g.71609_72227del619 chr11 5203290 5203291 HbVar.971 - HBB:c.*+113A>G chr11 5203291 5203292 HbVar.970 - HBB:c.*+112A>G chr11 5203291 5203296 HbVar.973 - HBB:c.*+108_*+112delAATAA chr11 5203292 5203293 HbVar.969 - HBB:c.*+111A>G chr11 5203292 5203294 HbVar.972 - HBB:c.[..*+110_*+111delTA..] chr11 5203293 5203294 HbVar.968 - HBB:c.*+110T>C chr11 5203293 5203295 HbVar.972 - HBB:c.[..*+109_*+110delAT..] chr11 5203300 5203313 HbVar.966 - HBB:c.*+91_*+103delGCATCTGGATTCT chr11 5203307 5203308 HbVar.967 - HBB:c.*+96T>C chr11 5203397 5203398 HbVar.965 - HBB:c.*+6C>G chr11 5203405 5203407 HbVar.2633 - HBB:c.441_442insTA chr11 5203405 5203407 HbVar.710 - HBB:c.441_442insAC chr11 5203406 5203407 HbVar.1141 - HBB:c.441C>G chr11 5203406 5203407 HbVar.579 - HBB:c.441C>A chr11 5203407 5203408 HbVar.576 - HBB:c.440A>C chr11 5203407 5203408 HbVar.577 - HBB:c.440A>G chr11 5203407 5203408 HbVar.578 - HBB:c.440A>T chr11 5203408 5203409 HbVar.575 - HBB:c.439C>G chr11 5203408 5203409 HbVar.899 - HBB:c.439C>T chr11 5203409 5203410 HbVar.574 - HBB:c.438T>A chr11 5203410 5203411 HbVar.571 - HBB:c.437A>G chr11 5203410 5203412 HbVar.709 - HBB:c.436_437insCT chr11 5203411 5203412 HbVar.570 - HBB:c.436T>C chr11 5203411 5203412 HbVar.572 - HBB:c.436T>A chr11 5203411 5203412 HbVar.573 - HBB:c.436T>G chr11 5203412 5203413 HbVar.567 - HBB:c.[..435G>C..] or HBB:c.[..435G>T..] chr11 5203413 5203414 HbVar.1164 - HBB:c.434delA chr11 5203413 5203414 HbVar.569 - HBB:c.434A>T chr11 5203414 5203415 HbVar.1231 - HBB:c.[..433A>T..] chr11 5203414 5203415 HbVar.568 - HBB:c.433A>G chr11 5203414 5203423 HbVar.741 - HBB:c.425_433delTGGCCCACA chr11 5203415 5203416 HbVar.563 - HBB:c.[..432C>A..] or HBB:c.[..432C>G..] chr11 5203416 5203417 HbVar.1234 - HBB:c.431A>T chr11 5203416 5203417 HbVar.562 - HBB:c.431A>G chr11 5203416 5203417 HbVar.564 - HBB:c.431A>C chr11 5203416 5203417 HbVar.708 - HBB:c.431delA chr11 5203417 5203418 HbVar.561 - HBB:c.430C>A chr11 5203417 5203418 HbVar.565 - HBB:c.430C>G chr11 5203417 5203418 HbVar.566 - HBB:c.430C>T chr11 5203419 5203420 HbVar.559 - HBB:c.428C>A chr11 5203419 5203420 HbVar.688 - HBB:c.[..428C>T..] chr11 5203420 5203421 HbVar.560 - HBB:c.427G>C chr11 5203420 5203421 HbVar.929 - HBB:c.427G>A chr11 5203421 5203424 HbVar.695 - HBB:c.[..424_426delCTG..] chr11 5203421 5203424 HbVar.731 - HBB:c.424_426delCTG chr11 5203422 5203423 HbVar.558 - HBB:c.425T>G chr11 5203423 5203424 HbVar.1213 - HBB:c.424delC chr11 5203423 5203424 HbVar.1231 - HBB:c.[..424C>G..] chr11 5203425 5203426 HbVar.556 - HBB:c.422C>A chr11 5203425 5203426 HbVar.557 - HBB:c.422C>T chr11 5203426 5203427 HbVar.555 - HBB:c.421G>A chr11 5203427 5203428 HbVar.553 - HBB:c.[..420T>A..] or HBB:c.[..420T>C..] chr11 5203428 5203429 HbVar.904 - HBB:c.419A>C chr11 5203429 5203430 HbVar.552 - HBB:c.418A>G chr11 5203429 5203430 HbVar.554 - HBB:c.418A>T chr11 5203429 5203430 HbVar.740 - HBB:c.[..418A>T..] chr11 5203429 5203435 HbVar.1237 - HBB:c.413_418delTGGCTA chr11 5203430 5203433 HbVar.740 - HBB:c.[..415_417delGCT..] chr11 5203431 5203432 HbVar.1230 - HBB:c.416C>T chr11 5203432 5203433 HbVar.1251 - HBB:c.415G>A chr11 5203432 5203433 HbVar.551 - HBB:c.415G>C chr11 5203434 5203444 HbVar.964 - HBB:c.404_413delinsGCAG chr11 5203437 5203438 HbVar.548 - HBB:c.410G>A chr11 5203437 5203438 HbVar.549 - HBB:c.410G>C chr11 5203438 5203439 HbVar.1113 - HBB:c.409G>C chr11 5203438 5203439 HbVar.1229 - HBB:c.409G>T chr11 5203438 5203439 HbVar.550 - HBB:c.409G>A chr11 5203440 5203441 HbVar.547 - HBB:c.407C>A chr11 5203440 5203451 HbVar.963 - HBB:c.[..397_407delAAAGTGGTGGC..] chr11 5203441 5203442 HbVar.546 - HBB:c.406G>C chr11 5203443 5203444 HbVar.545 - HBB:c.404T>A chr11 5203443 5203444 HbVar.931 - HBB:c.404T>C chr11 5203446 5203447 HbVar.909 - HBB:c.401T>C chr11 5203447 5203448 HbVar.544 - HBB:c.400G>C chr11 5203448 5203449 HbVar.1214 - HBB:c.[..399A>C..] chr11 5203448 5203449 HbVar.541 - HBB:c.[..399A>C..] or HBB:c.[..399A>T..] chr11 5203449 5203450 HbVar.542 - HBB:c.398A>C chr11 5203450 5203451 HbVar.2548 - HBB:c.397A>T chr11 5203450 5203451 HbVar.540 - HBB:c.397A>C chr11 5203450 5203451 HbVar.543 - HBB:c.397A>G chr11 5203450 5203452 HbVar.2510 - HBB:c.396_397delGA chr11 5203451 5203452 HbVar.539 - HBB:c.396G>C chr11 5203451 5203468 HbVar.958 - HBB:c.380_396delTGCAGGCTGCCTATCAG chr11 5203452 5203453 HbVar.537 - HBB:c.395A>C chr11 5203452 5203453 HbVar.538 - HBB:c.395A>G chr11 5203453 5203454 HbVar.535 - HBB:c.394C>G chr11 5203453 5203454 HbVar.536 - HBB:c.394C>A chr11 5203455 5203456 HbVar.533 - HBB:c.392A>C chr11 5203455 5203456 HbVar.534 - HBB:c.392A>G chr11 5203456 5203457 HbVar.532 - HBB:c.391T>G chr11 5203457 5203460 HbVar.529 - HBB:p.[..Ala130Asp..] or HBB:p.[..Ala130Glu..] chr11 5203458 5203459 HbVar.528 - HBB:c.389C>A chr11 5203458 5203459 HbVar.531 - HBB:c.389C>T chr11 5203459 5203460 HbVar.530 - HBB:c.388G>C chr11 5203459 5203463 HbVar.963 - HBB:c.[..385_388delGCTG..] chr11 5203459 5203464 HbVar.963 - HBB:c.[..384_388insCCACA..] chr11 5203461 5203462 HbVar.525 - HBB:c.386C>A chr11 5203461 5203462 HbVar.527 - HBB:c.386C>T chr11 5203462 5203463 HbVar.526 - HBB:c.385G>C chr11 5203462 5203465 HbVar.962 - HBB:c.383_385delAGG chr11 5203464 5203465 HbVar.524 - HBB:c.383A>G chr11 5203464 5203465 HbVar.959 - HBB:c.383A>C chr11 5203464 5203465 HbVar.960 - HBB:c.383A>G chr11 5203465 5203466 HbVar.522 - HBB:c.382C>G chr11 5203465 5203466 HbVar.523 - HBB:c.382C>A chr11 5203465 5203466 HbVar.961 - HBB:c.382C>T chr11 5203467 5203468 HbVar.519 - HBB:c.380T>A chr11 5203467 5203468 HbVar.520 - HBB:c.380T>C chr11 5203467 5203468 HbVar.521 - HBB:c.380T>G chr11 5203467 5203468 HbVar.957 - HBB:c.380delT chr11 5203468 5203469 HbVar.1137 - HBB:c.379G>C chr11 5203468 5203470 HbVar.956 - HBB:c.378_379insCCA chr11 5203469 5203470 HbVar.955 - HBB:c.378delA chr11 5203469 5203478 HbVar.953 - HBB:c.370_378delACCCCACCA chr11 5203472 5203473 HbVar.954 - HBB:c.375delA chr11 5203473 5203474 HbVar.515 - HBB:c.374C>G chr11 5203473 5203474 HbVar.516 - HBB:c.374C>A chr11 5203473 5203474 HbVar.518 - HBB:c.374C>T chr11 5203474 5203475 HbVar.517 - HBB:c.373C>T chr11 5203476 5203477 HbVar.514 - HBB:c.371C>T chr11 5203476 5203477 HbVar.908 - HBB:c.371C>A chr11 5203477 5203478 HbVar.952 - HBB:c.370delA chr11 5203478 5203479 HbVar.797 - HBB:c.[..369C>A..] or HBB:c.[..369C>G..] chr11 5203478 5203479 HbVar.812 - HBB:c.[..369C>A..] or HBB:c.[..369C>G..] chr11 5203480 5203481 HbVar.797 - HBB:c.[..367T>C..] chr11 5203480 5203481 HbVar.812 - HBB:c.[..367T>C..] chr11 5203482 5203483 HbVar.511 - HBB:c.365A>G chr11 5203482 5203483 HbVar.512 - HBB:c.365A>T chr11 5203482 5203483 HbVar.513 - HBB:c.365A>C chr11 5203483 5203484 HbVar.1125 - HBB:c.[..364G>C..] chr11 5203483 5203484 HbVar.1128 - HBB:c.[..364G>A..] chr11 5203483 5203484 HbVar.509 - HBB:c.364G>C chr11 5203483 5203484 HbVar.510 - HBB:c.364G>A chr11 5203483 5203484 HbVar.687 - HBB:c.[..364G>A..] chr11 5203483 5203484 HbVar.692 - HBB:c.[..364G>C..] chr11 5203483 5203484 HbVar.701 - HBB:c.[..364G>C..] chr11 5203483 5203484 HbVar.951 - HBB:c.364G>T chr11 5203483 5203485 HbVar.950 - HBB:c.363_364insA chr11 5203484 5203485 HbVar.506 - HBB:c.363A>C chr11 5203485 5203486 HbVar.508 - HBB:c.362A>T chr11 5203486 5203487 HbVar.505 - HBB:c.361A>G chr11 5203486 5203487 HbVar.507 - HBB:c.361A>C chr11 5203488 5203489 HbVar.502 - HBB:c.[..359G>A..] chr11 5203488 5203489 HbVar.503 - HBB:c.359G>T chr11 5203488 5203489 HbVar.504 - HBB:c.359G>C chr11 5203488 5203489 HbVar.699 - HBB:c.359G>A chr11 5203488 5203489 HbVar.700 - HBB:c.[..359G>A..] chr11 5203491 5203492 HbVar.501 - HBB:c.356T>A chr11 5203491 5203492 HbVar.794 - HBB:c.356T>G chr11 5203492 5203493 HbVar.1221 - HBB:c.355delT chr11 5203492 5203493 HbVar.2546 - HBB:c.355T>G chr11 5203494 5203495 HbVar.497 - HBB:c.353A>G chr11 5203494 5203495 HbVar.498 - HBB:c.353A>C chr11 5203495 5203496 HbVar.2619 - HBB:c.352C>G chr11 5203495 5203496 HbVar.499 - HBB:c.352C>T chr11 5203495 5203496 HbVar.500 - HBB:c.352C>A chr11 5203496 5203497 HbVar.496 - HBB:c.[..351T>A..] or HBB:c.[..351T>G..] chr11 5203497 5203498 HbVar.1148 - HBB:c.350A>T chr11 5203497 5203498 HbVar.1151 - HBB:c.350A>C chr11 5203497 5203498 HbVar.2583 - HBB:c.350A>G chr11 5203497 5203499 HbVar.1200 - HBB:c.349_350insTGAT chr11 5203497 5203499 HbVar.1204 - HBB:c.349_350insGTGTGCTGGCCC chr11 5203498 5203499 HbVar.1118 - HBB:c.349C>T chr11 5203498 5210865 HbVar.747 - NG_000007.3:g.64557_71923dup chr11 5203500 5203501 HbVar.495 - HBB:c.347C>A chr11 5203501 5203502 HbVar.494 - HBB:c.346G>C chr11 5203503 5203504 HbVar.493 - HBB:c.344T>C chr11 5203503 5203505 HbVar.949 - HBB:c.343_344delinsG chr11 5203504 5203505 HbVar.492 - HBB:c.343C>A chr11 5203504 5203505 HbVar.700 - HBB:c.[..343C>A..] chr11 5203506 5203507 HbVar.491 - HBB:c.341T>A chr11 5203507 5203508 HbVar.1144 - HBB:c.[..340G>C..] or HBB:c.[..340G>T..] chr11 5203508 5203509 HbVar.490 - HBB:c.339T>G chr11 5203508 5203509 HbVar.948 - HBB:c.339T>A chr11 5203509 5203510 HbVar.1136 - HBB:c.338G>T chr11 5203509 5203510 HbVar.489 - HBB:c.338G>A chr11 5203510 5203511 HbVar.488 - HBB:c.337T>C chr11 5203510 5203522 HbVar.946 - HBB:c.326_337delACGTGCTGGTCT chr11 5203512 5203513 HbVar.487 - HBB:c.335T>C chr11 5203513 5203514 HbVar.486 - HBB:c.334G>T chr11 5203513 5203514 HbVar.502 - HBB:c.[..334G>C..] chr11 5203515 5203516 HbVar.485 - HBB:c.332T>C chr11 5203519 5203520 HbVar.483 - HBB:c.328G>A chr11 5203519 5203520 HbVar.484 - HBB:c.[..328G>C..] or HBB:c.[..328G>T..] chr11 5203519 5203520 HbVar.947 - HBB:c.328delG chr11 5203519 5203833 HbVar.2545 - HBB:c.[..316-301_328insCAGGTGCCATCTGTCACCCTTTTCTTTG..] chr11 5203520 5203521 HbVar.481 - HBB:c.[..327C>A..] or HBB:c.[..327C>G..] chr11 5203520 5203832 HbVar.2545 - NG_000007.3:g.[..71590_71901del312..] chr11 5203521 5203522 HbVar.903 - HBB:c.326A>T chr11 5203521 5203522 HbVar.928 - HBB:c.326A>G chr11 5203522 5203523 HbVar.480 - HBB:c.325A>G chr11 5203522 5203523 HbVar.482 - HBB:c.325A>C chr11 5203524 5203525 HbVar.479 - HBB:c.323G>A chr11 5203525 5203526 HbVar.478 - HBB:c.322G>C chr11 5203525 5203527 HbVar.945 - HBB:c.321_322insG chr11 5203527 5203528 HbVar.475 - HBB:c.320T>C chr11 5203527 5203528 HbVar.476 - HBB:c.320T>A chr11 5203527 5203528 HbVar.477 - HBB:c.320T>G chr11 5203528 5203529 HbVar.2603 - HBB:c.319C>G chr11 5203531 5203532 HbVar.474 - HBB:c.316C>T chr11 5203532 5203533 HbVar.941 - HBB:c.316-1delG chr11 5203532 5203533 HbVar.942 - HBB:c.316-1G>A chr11 5203532 5203533 HbVar.943 - HBB:c.316-1G>C chr11 5203532 5203533 HbVar.944 - HBB:c.316-1G>T chr11 5203533 5203534 HbVar.939 - HBB:c.316-2A>C chr11 5203533 5203534 HbVar.940 - HBB:c.316-2A>G chr11 5203534 5203535 HbVar.901 - HBB:c.316-3C>A chr11 5203534 5203535 HbVar.938 - HBB:c.316-3C>G chr11 5203538 5203539 HbVar.898 - HBB:c.316-7C>G chr11 5203539 5203540 HbVar.897 - HBB:c.316-8T>G chr11 5203545 5203546 HbVar.895 - HBB:c.316-14T>G chr11 5203621 5203622 HbVar.2508 - HBB:c.316-90A>G chr11 5203637 5203638 HbVar.891 - HBB:c.316-106C>G chr11 5203656 5203657 HbVar.2571 - HBB:c.316-125A>G chr11 5203677 5203678 HbVar.890 - HBB:c.316-146T>G chr11 5203728 5203729 HbVar.889 - HBB:c.316-197C>T chr11 5203846 5203848 HbVar.2545 - HBB:c.[..316-316_316-315insAATATATTTTTAATATACTTTTT..] chr11 5203969 5205362 HbVar.980 - NG_000007.3:g.70060_71452del1393 chr11 5204257 5205861 HbVar.981 - NG_000007.3:g.69561_71164del1604 chr11 5204375 5211790 HbVar.744 - NG_000007.3:g.63632_71046del chr11 5204375 5211790 HbVar.750 - NG_000007.3:g.63632_71046dup chr11 5204377 5204378 HbVar.888 - HBB:c.315+5G>C chr11 5204377 5204379 HbVar.887 - HBB:c.315+4_315+5delAG chr11 5204378 5204382 HbVar.886 - HBB:c.[..315+1_315+4insACGTTCTCTGA..] chr11 5204379 5204381 HbVar.886 - HBB:c.[..315+2_315+3delTG..] chr11 5204380 5204381 HbVar.2534 - HBB:c.315+2T>A chr11 5204380 5204381 HbVar.2573 - HBB:c.315+2T>C chr11 5204381 5204382 HbVar.2602 - HBB:c.315+1G>T chr11 5204381 5204382 HbVar.884 - HBB:c.315+1G>A chr11 5204381 5204382 HbVar.885 - HBB:c.315+1G>C chr11 5204382 5204383 HbVar.471 - HBB:c.[..315G>C..] or HBB:c.[..315G>T..] chr11 5204382 5204383 HbVar.697 - HBB:c.[..315G>C..] or HBB:c.[..315G>T..] chr11 5204383 5204384 HbVar.2574 - HBB:c.314delG chr11 5204383 5204384 HbVar.472 - HBB:c.314G>C chr11 5204383 5204384 HbVar.473 - HBB:c.314G>A chr11 5204383 5204384 HbVar.691 - HBB:c.[..314G>C..] chr11 5204384 5204385 HbVar.792 - HBB:c.313A>T chr11 5204385 5204386 HbVar.469 - HBB:c.312C>G chr11 5204387 5204388 HbVar.1201 - HBB:c.310T>G chr11 5204387 5204388 HbVar.470 - HBB:c.310T>A chr11 5204388 5204389 HbVar.465 - HBB:c.[..309C>A..] or HBB:c.[..309C>G..] chr11 5204389 5204390 HbVar.466 - HBB:c.308A>C chr11 5204389 5204390 HbVar.467 - HBB:c.308A>G chr11 5204390 5204391 HbVar.1147 - HBB:c.307A>C chr11 5204390 5204391 HbVar.468 - HBB:c.307A>T chr11 5204391 5204392 HbVar.464 - HBB:c.[..306G>C..] or HBB:c.[..306G>T..] chr11 5204392 5204393 HbVar.1247 - HBB:c.305A>C chr11 5204392 5204393 HbVar.463 - HBB:c.305A>G chr11 5204393 5204394 HbVar.461 - HBB:c.304G>A chr11 5204393 5204394 HbVar.462 - HBB:c.304G>C chr11 5204394 5204397 HbVar.883 - HBB:c.301_303delinsTCTGAGAACTT chr11 5204395 5204396 HbVar.459 - HBB:c.302C>T chr11 5204395 5204396 HbVar.460 - HBB:c.302C>G chr11 5204396 5204397 HbVar.932 - HBB:c.301C>G chr11 5204397 5204398 HbVar.458 - HBB:c.[..300T>A..] or HBB:c.[..300T>G..] chr11 5204398 5204399 HbVar.454 - HBB:c.299A>C chr11 5204398 5204399 HbVar.456 - HBB:c.299A>G chr11 5204398 5204399 HbVar.457 - HBB:c.299A>T chr11 5204399 5204400 HbVar.452 - HBB:c.298G>A chr11 5204399 5204400 HbVar.453 - HBB:c.298G>C chr11 5204399 5204400 HbVar.455 - HBB:c.298G>T chr11 5204401 5204402 HbVar.449 - HBB:c.296T>G chr11 5204401 5204402 HbVar.450 - HBB:c.296T>C chr11 5204401 5204402 HbVar.451 - HBB:c.296T>A chr11 5204402 5204403 HbVar.448 - HBB:c.295G>A chr11 5204402 5204403 HbVar.698 - HBB:c.[..295G>A..] chr11 5204402 5204405 HbVar.739 - HBB:c.293_295delACG chr11 5204403 5204404 HbVar.444 - HBB:c.[..294C>A..] or HBB:c.[..294C>G..] chr11 5204404 5204405 HbVar.445 - HBB:c.293A>T chr11 5204404 5204405 HbVar.446 - HBB:c.293A>C chr11 5204405 5204406 HbVar.447 - HBB:c.292C>T chr11 5204405 5204406 HbVar.927 - HBB:c.292C>A chr11 5204407 5204408 HbVar.443 - HBB:c.290T>C chr11 5204408 5204409 HbVar.442 - HBB:c.289C>G chr11 5204408 5204410 HbVar.737 - HBB:c.288_289insLeuHisCysAspLys chr11 5204409 5204410 HbVar.441 - HBB:c.[..288G>C..] or HBB:c.[..288G>T..] chr11 5204409 5204411 HbVar.882 - HBB:c.287_288insA chr11 5204409 5204424 HbVar.730 - HBB:c.274_288delCTGCACTGTGACAAG chr11 5204410 5204411 HbVar.440 - HBB:c.287A>T chr11 5204411 5204412 HbVar.439 - HBB:c.286A>G chr11 5204411 5204412 HbVar.690 - HBB:c.[..286A>G..] chr11 5204411 5204413 HbVar.736 - HBB:c.285_286insGAGCTGCACTGTGAC chr11 5204413 5204414 HbVar.438 - HBB:c.284A>G chr11 5204413 5204415 HbVar.881 - HBB:c.283_284insTG chr11 5204414 5204415 HbVar.1225 - HBB:c.283G>T chr11 5204414 5204415 HbVar.436 - HBB:c.283G>C chr11 5204414 5204415 HbVar.437 - HBB:c.283G>A chr11 5204416 5204417 HbVar.1165 - HBB:c.281G>A chr11 5204417 5204418 HbVar.435 - HBB:c.280T>C chr11 5204417 5204418 HbVar.701 - HBB:c.[..280T>C..] chr11 5204418 5204419 HbVar.432 - HBB:c.[..279C>A..] or HBB:c.[..279C>G..] chr11 5204419 5204420 HbVar.429 - HBB:c.278A>G chr11 5204419 5204420 HbVar.431 - HBB:c.278A>C chr11 5204419 5204420 HbVar.697 - HBB:c.[..278A>C..] chr11 5204420 5204421 HbVar.430 - HBB:c.277C>T chr11 5204420 5204421 HbVar.433 - HBB:c.277C>G chr11 5204420 5204421 HbVar.434 - HBB:c.277C>A chr11 5204422 5204423 HbVar.2511 - HBB:c.275delT chr11 5204422 5204423 HbVar.427 - HBB:c.275T>C chr11 5204422 5204423 HbVar.428 - HBB:c.275T>G chr11 5204424 5204425 HbVar.426 - HBB:c.[..273G>C..] or HBB:c.[..273G>T..] chr11 5204425 5204426 HbVar.425 - HBB:c.272A>G chr11 5204426 5204427 HbVar.1209 - HBB:c.[..271G>A..] chr11 5204426 5204427 HbVar.424 - HBB:c.271G>A chr11 5204426 5204427 HbVar.880 - HBB:c.271G>T chr11 5204427 5204429 HbVar.879 - HBB:c.269_270delGT chr11 5204428 5204429 HbVar.421 - HBB:c.269G>A chr11 5204428 5204429 HbVar.423 - HBB:c.269G>C chr11 5204429 5204430 HbVar.422 - HBB:c.268A>C chr11 5204430 5204432 HbVar.878 - HBB:c.266_267insT chr11 5204431 5204432 HbVar.419 - HBB:c.266T>G chr11 5204431 5204432 HbVar.420 - HBB:c.266T>C chr11 5204432 5204433 HbVar.1108 - HBB:c.265C>G chr11 5204433 5204436 HbVar.729 - HBB:c.262_264delACA chr11 5204434 5204435 HbVar.416 - HBB:c.263C>A chr11 5204434 5204435 HbVar.418 - HBB:c.263C>T chr11 5204435 5204436 HbVar.417 - HBB:c.262A>C chr11 5204436 5211851 HbVar.745 - NG_000007.3:g.[..63571_70985dup..] chr11 5204436 5227228 HbVar.751 - NG_000007.3:g.48194_70985del chr11 5204437 5204438 HbVar.2584 - HBB:c.[..260C>T..] chr11 5204437 5204438 HbVar.415 - HBB:c.260C>A chr11 5204438 5204439 HbVar.1170 - HBB:c.259G>C chr11 5204438 5204439 HbVar.2584 - HBB:c.[..259G>A..] chr11 5204438 5204439 HbVar.694 - HBB:c.[..259G>C..] chr11 5204438 5204440 HbVar.877 - HBB:c.258_259insT chr11 5204440 5204441 HbVar.414 - HBB:c.257T>C chr11 5204441 5204443 HbVar.876 - HBB:c.255_256insC chr11 5204443 5204444 HbVar.2616 - HBB:c.254C>A chr11 5204443 5204444 HbVar.413 - HBB:c.254C>T chr11 5204443 5211858 HbVar.743 - NG_000007.3:g.63564_70978del chr11 5204444 5204445 HbVar.893 - HBB:c.253A>G chr11 5204444 5204446 HbVar.2558 - HBB:c.187_251dup chr11 5204446 5204447 HbVar.1246 - HBB:c.[..251G>A..] chr11 5204446 5204447 HbVar.411 - HBB:c.251G>A chr11 5204447 5204448 HbVar.410 - HBB:c.250G>T chr11 5204447 5204448 HbVar.412 - HBB:c.250G>C chr11 5204447 5204448 HbVar.875 - HBB:c.250delG chr11 5204448 5204449 HbVar.405 - HBB:c.[..249G>C..] or HBB:c.[..249G>T..] chr11 5204448 5204449 HbVar.686 - HBB:c.[..249G>C..] or HBB:c.[..249G>T..] chr11 5204449 5204450 HbVar.1236 - HBB:c.248A>G chr11 5204449 5204450 HbVar.406 - HBB:c.248A>C chr11 5204449 5204450 HbVar.407 - HBB:c.248A>T chr11 5204450 5204451 HbVar.408 - HBB:c.247A>C chr11 5204450 5204451 HbVar.409 - HBB:c.247A>G chr11 5204452 5204453 HbVar.403 - HBB:c.245T>G chr11 5204452 5204453 HbVar.404 - HBB:c.245T>A chr11 5204454 5204455 HbVar.402 - HBB:c.[..243C>A..] or HBB:c.[..243C>G..] chr11 5204455 5204456 HbVar.696 - HBB:c.[..242A>G..] chr11 5204456 5204457 HbVar.2557 - HBB:c.241A>T chr11 5204458 5204459 HbVar.398 - HBB:c.239A>G chr11 5204459 5204460 HbVar.399 - HBB:c.238G>T chr11 5204459 5204460 HbVar.400 - HBB:c.238G>C chr11 5204459 5204460 HbVar.401 - HBB:c.238G>A chr11 5204461 5204462 HbVar.397 - HBB:c.236T>G chr11 5204463 5204464 HbVar.396 - HBB:c.234C>G chr11 5204463 5204466 HbVar.395 - HBB:p.His78Arg chr11 5204464 5204465 HbVar.1181 - HBB:c.233A>T chr11 5204465 5204466 HbVar.2533 - HBB:c.232delC chr11 5204465 5204466 HbVar.393 - HBB:c.232C>G chr11 5204465 5204466 HbVar.394 - HBB:c.232C>T chr11 5204465 5204466 HbVar.696 - HBB:c.[..232C>T..] chr11 5204467 5204468 HbVar.1150 - HBB:c.230C>T chr11 5204467 5204468 HbVar.391 - HBB:c.230C>A chr11 5204467 5204468 HbVar.874 - HBB:c.230delC chr11 5204467 5204469 HbVar.2538 - HBB:c.229_230delGC chr11 5204468 5204469 HbVar.392 - HBB:c.229G>C chr11 5204469 5204472 HbVar.728 - HBB:c.226_228delCTG chr11 5204469 5204475 HbVar.727 - HBB:c.223_228delGGCCTG chr11 5204469 5204478 HbVar.738 - HBB:c.220_228delinsAlaArgCysGln chr11 5204470 5204471 HbVar.389 - HBB:c.227T>C chr11 5204470 5204471 HbVar.390 - HBB:c.227T>G chr11 5204470 5204471 HbVar.695 - HBB:c.[..227T>C..] chr11 5204472 5204473 HbVar.873 - HBB:c.225delC chr11 5204473 5204474 HbVar.386 - HBB:c.224G>T chr11 5204473 5204474 HbVar.387 - HBB:c.224G>A chr11 5204474 5204475 HbVar.1249 - HBB:c.223G>A chr11 5204474 5204475 HbVar.388 - HBB:c.223G>C chr11 5204476 5204477 HbVar.384 - HBB:c.221A>T chr11 5204476 5204477 HbVar.385 - HBB:c.221A>G chr11 5204476 5204481 HbVar.871 - HBB:c.217_221delinsT chr11 5204477 5204478 HbVar.382 - HBB:c.220G>T chr11 5204477 5204478 HbVar.383 - HBB:c.220G>A chr11 5204477 5204478 HbVar.685 - HBB:c.[..220G>A..] chr11 5204478 5204479 HbVar.381 - HBB:c.219T>A chr11 5204480 5204482 HbVar.869 - HBB:c.216_217insA chr11 5204480 5204482 HbVar.870 - HBB:c.216_217insT chr11 5204482 5204483 HbVar.380 - HBB:c.215T>C chr11 5204485 5204486 HbVar.1219 - HBB:c.212C>G chr11 5204485 5204486 HbVar.1256 - HBB:c.212C>T chr11 5204485 5204486 HbVar.379 - HBB:c.212C>A chr11 5204486 5204487 HbVar.1220 - HBB:c.211G>C chr11 5204487 5204489 HbVar.1110 - HBB:c.209_210insGCTCGG chr11 5204488 5204489 HbVar.376 - HBB:c.209G>A chr11 5204489 5204490 HbVar.377 - HBB:c.208G>A chr11 5204489 5204490 HbVar.378 - HBB:c.208G>C chr11 5204491 5204492 HbVar.373 - HBB:c.206T>C chr11 5204491 5204492 HbVar.374 - HBB:c.206T>A chr11 5204492 5204493 HbVar.1173 - HBB:c.[..205C>T..] chr11 5204492 5204493 HbVar.375 - HBB:c.205C>T chr11 5204493 5204496 HbVar.369 - HBB:p.[..Val68Asp..] or HBB:p.[..Val68Met..] chr11 5204494 5204495 HbVar.368 - HBB:c.203T>A chr11 5204494 5204495 HbVar.371 - HBB:c.203T>C chr11 5204494 5204495 HbVar.372 - HBB:c.203T>G chr11 5204494 5204496 HbVar.868 - HBB:c.202_203delGT chr11 5204495 5204496 HbVar.370 - HBB:c.202G>A chr11 5204496 5204497 HbVar.1191 - HBB:c.201A>T chr11 5204497 5204498 HbVar.367 - HBB:c.200A>C chr11 5204498 5204499 HbVar.366 - HBB:c.199A>G chr11 5204499 5204500 HbVar.363 - HBB:c.[..198G>C..] or HBB:c.[..198G>T..] chr11 5204500 5204501 HbVar.365 - HBB:c.197A>T chr11 5204500 5204501 HbVar.812 - HBB:c.[..197A>T..] chr11 5204500 5300223 HbVar.1052 - NG_000007.3:g.-24802_70921del95724 chr11 5204501 5204502 HbVar.364 - HBB:c.196A>C chr11 5204503 5204504 HbVar.1143 - HBB:c.194G>C chr11 5204503 5204504 HbVar.362 - HBB:c.194G>A chr11 5204504 5204505 HbVar.867 - HBB:c.193delG chr11 5204506 5204507 HbVar.358 - HBB:c.191A>G chr11 5204506 5204507 HbVar.360 - HBB:c.191A>C chr11 5204507 5204508 HbVar.359 - HBB:c.190C>T chr11 5204507 5204508 HbVar.361 - HBB:c.190C>A chr11 5204509 5204510 HbVar.357 - HBB:c.188C>A chr11 5204510 5204511 HbVar.356 - HBB:c.187G>C chr11 5204511 5204512 HbVar.354 - HBB:c.[..186G>C..] or HBB:c.[..186G>T..] chr11 5204512 5204513 HbVar.355 - HBB:c.185A>T chr11 5204513 5204514 HbVar.1145 - HBB:c.184A>C chr11 5204513 5204514 HbVar.353 - HBB:c.184A>G chr11 5204513 5204514 HbVar.866 - HBB:c.184A>T chr11 5204513 5204530 HbVar.863 - HBB:c.170_183dup chr11 5204515 5204516 HbVar.351 - HBB:c.182T>C chr11 5204515 5204516 HbVar.352 - HBB:c.182T>A chr11 5204516 5204517 HbVar.350 - HBB:c.181G>C chr11 5204517 5204518 HbVar.1185 - HBB:c.[..180G>C..] or HBB:c.[..180G>T..] chr11 5204517 5204529 HbVar.726 - HBB:c.169_180delGGCAACCCTAAG chr11 5204518 5204519 HbVar.348 - HBB:c.179A>C chr11 5204519 5204520 HbVar.2528 - HBB:c.178A>T chr11 5204519 5204520 HbVar.347 - HBB:c.178A>G chr11 5204519 5204520 HbVar.865 - HBB:c.178delA chr11 5204521 5204522 HbVar.346 - HBB:c.176C>G chr11 5204521 5204522 HbVar.684 - HBB:c.[..176C>G..] chr11 5204522 5204524 HbVar.864 - HBB:c.174_175insC chr11 5204523 5204524 HbVar.344 - HBB:c.[..174C>A..] or HBB:c.[..174C>G..] chr11 5204524 5204525 HbVar.1222 - HBB:c.173A>C chr11 5204525 5204526 HbVar.1157 - HBB:c.172A>C chr11 5204525 5204526 HbVar.345 - HBB:c.172A>G chr11 5204527 5204528 HbVar.342 - HBB:c.170G>A chr11 5204528 5204529 HbVar.2604 - HBB:c.169G>T chr11 5204528 5204529 HbVar.343 - HBB:c.169G>C chr11 5204528 5204529 HbVar.694 - HBB:c.[..169G>C..] chr11 5204530 5204531 HbVar.341 - HBB:c.167T>A chr11 5204531 5204533 HbVar.862 - HBB:c.165_166insA chr11 5204532 5204533 HbVar.861 - HBB:c.165delT chr11 5204533 5204534 HbVar.340 - HBB:c.164T>A chr11 5204534 5204536 HbVar.860 - HBB:c.162_163insG chr11 5204537 5204538 HbVar.339 - HBB:c.160G>A chr11 5204539 5204540 HbVar.335 - HBB:c.158A>C chr11 5204539 5204540 HbVar.337 - HBB:c.158A>G chr11 5204539 5204540 HbVar.338 - HBB:c.158A>T chr11 5204540 5204541 HbVar.2628 - HBB:c.157G>T chr11 5204540 5204541 HbVar.334 - HBB:c.157G>A chr11 5204540 5204541 HbVar.336 - HBB:c.157G>C chr11 5204540 5204541 HbVar.693 - HBB:c.[..157G>A..] chr11 5204542 5204543 HbVar.332 - HBB:c.155C>G chr11 5204542 5204543 HbVar.333 - HBB:c.155C>A chr11 5204543 5204544 HbVar.693 - HBB:c.[..154C>T..] chr11 5204543 5204544 HbVar.858 - HBB:c.154delC chr11 5204544 5204547 HbVar.331 - HBB:p.Thr51Lys chr11 5204546 5204547 HbVar.2543 - HBB:c.151A>T chr11 5204548 5204549 HbVar.1156 - HBB:c.149C>G chr11 5204548 5204549 HbVar.330 - HBB:c.149C>T chr11 5204550 5204552 HbVar.857 - HBB:c.146_147insATCT chr11 5204551 5204552 HbVar.328 - HBB:c.146T>G chr11 5204551 5204552 HbVar.329 - HBB:c.146T>C chr11 5204553 5204555 HbVar.856 - HBB:c.143_144insA chr11 5204554 5204555 HbVar.325 - HBB:c.143A>G chr11 5204554 5204555 HbVar.326 - HBB:c.143A>C chr11 5204554 5204555 HbVar.935 - HBB:c.143A>T chr11 5204555 5204556 HbVar.1227 - HBB:c.142G>C chr11 5204555 5204556 HbVar.324 - HBB:c.142G>A chr11 5204555 5204556 HbVar.327 - HBB:c.142G>T chr11 5204557 5204558 HbVar.322 - HBB:c.140G>A chr11 5204558 5204559 HbVar.323 - HBB:c.139G>A chr11 5204559 5204571 HbVar.725 - HBB:c.127_135delTTTGAGTCC chr11 5204560 5204561 HbVar.2590 - HBB:c.137T>A chr11 5204560 5204561 HbVar.320 - HBB:c.137T>C chr11 5204560 5204561 HbVar.321 - HBB:c.137T>G chr11 5204561 5204562 HbVar.855 - HBB:c.136delT chr11 5204562 5204563 HbVar.854 - HBB:c.135delC chr11 5204563 5204564 HbVar.319 - HBB:c.134C>G chr11 5204566 5204567 HbVar.317 - HBB:c.131A>C chr11 5204567 5204568 HbVar.1158 - HBB:c.130G>A chr11 5204567 5204568 HbVar.318 - HBB:c.130G>C chr11 5204567 5204568 HbVar.853 - HBB:c.130G>T chr11 5204567 5204569 HbVar.850 - HBB:c.129_130insG chr11 5204567 5204569 HbVar.851 - HBB:c.129_130insT chr11 5204568 5204571 HbVar.724 - HBB:c.[..127_129delTTT..] chr11 5204569 5204570 HbVar.314 - HBB:c.128T>C chr11 5204570 5204571 HbVar.315 - HBB:c.127T>C chr11 5204570 5204571 HbVar.316 - HBB:c.127T>G chr11 5204570 5204574 HbVar.849 - HBB:c.124_127delTTCT chr11 5204571 5204572 HbVar.848 - HBB:c.126delC chr11 5204571 5204574 HbVar.724 - HBB:c.[..124_126delTTC..] chr11 5204572 5204573 HbVar.1119 - HBB:c.125T>G chr11 5204572 5204573 HbVar.312 - HBB:c.125T>A chr11 5204572 5204573 HbVar.313 - HBB:c.125T>C chr11 5204573 5204575 HbVar.847 - HBB:c.123_124insT chr11 5204574 5204575 HbVar.311 - HBB:c.[..123G>C..] or HBB:c.[..123G>T..] chr11 5204574 5204575 HbVar.846 - HBB:c.123delG chr11 5204575 5204576 HbVar.310 - HBB:c.122G>A chr11 5204577 5204578 HbVar.926 - HBB:c.120G>C chr11 5204577 5204584 HbVar.842 - HBB:c.114_120delGACCCAG chr11 5204578 5204579 HbVar.309 - HBB:c.119A>G chr11 5204579 5204580 HbVar.307 - HBB:c.118C>A chr11 5204579 5204580 HbVar.308 - HBB:c.118C>G chr11 5204579 5204580 HbVar.843 - HBB:c.118delC chr11 5204579 5204580 HbVar.845 - HBB:c.118C>T chr11 5204580 5204582 HbVar.844 - HBB:c.116_117delCC chr11 5204581 5204582 HbVar.2540 - HBB:c.116C>T chr11 5204581 5204582 HbVar.306 - HBB:c.116C>A chr11 5204582 5204583 HbVar.305 - HBB:c.115A>C chr11 5204583 5204584 HbVar.1228 - HBB:c.114G>T chr11 5204583 5204584 HbVar.841 - HBB:c.114G>A chr11 5204584 5204585 HbVar.2529 - HBB:c.113G>A chr11 5204584 5204585 HbVar.302 - HBB:c.113G>C chr11 5204585 5204586 HbVar.2520 - HBB:c.[..112T>G..] chr11 5204585 5204586 HbVar.303 - HBB:c.[..112T>A..] or HBB:c.[..112T>C..] chr11 5204585 5204586 HbVar.304 - HBB:c.112T>G chr11 5204585 5204586 HbVar.689 - HBB:c.[..112T>A..] or HBB:c.[..112T>C..] chr11 5204585 5204586 HbVar.840 - HBB:c.112delT chr11 5204587 5204588 HbVar.300 - HBB:c.110C>G chr11 5204587 5204588 HbVar.301 - HBB:c.110C>A chr11 5204588 5204589 HbVar.298 - HBB:c.109C>A chr11 5204588 5204589 HbVar.299 - HBB:c.109C>T chr11 5204588 5204589 HbVar.795 - HBB:c.109C>G chr11 5204589 5204590 HbVar.838 - HBB:c.108C>A chr11 5204589 5204590 HbVar.839 - HBB:c.108delC chr11 5204590 5204591 HbVar.297 - HBB:c.107A>T chr11 5204591 5204597 HbVar.907 - HBB:c.101_106delTGGTCT chr11 5204593 5204594 HbVar.1160 - HBB:c.104T>A chr11 5204594 5204595 HbVar.1149 - HBB:c.103G>C chr11 5204594 5204595 HbVar.296 - HBB:c.103G>T chr11 5204595 5204598 HbVar.837 - HBB:c.100_102delGTG chr11 5204597 5204598 HbVar.1154 - HBB:c.100G>A chr11 5204599 5204600 HbVar.2542 - HBB:c.98T>A chr11 5204599 5204600 HbVar.293 - HBB:c.98T>C chr11 5204599 5204600 HbVar.294 - HBB:c.98T>G chr11 5204599 5204600 HbVar.698 - HBB:c.[..98T>A..] chr11 5204600 5204601 HbVar.295 - HBB:c.97C>G chr11 5204601 5204626 HbVar.974 - NG_000007.3:g.70796_70820del25 chr11 5204602 5204603 HbVar.291 - HBB:c.95T>C chr11 5204602 5204603 HbVar.292 - HBB:c.95T>G chr11 5204603 5204604 HbVar.1153 - HBB:c.94C>G chr11 5204603 5204604 HbVar.835 - HBB:c.94delC chr11 5204603 5204605 HbVar.836 - HBB:c.93_94insCGG chr11 5204604 5204605 HbVar.289 - HBB:c.93G>T chr11 5204604 5204605 HbVar.833 - HBB:c.93G>C chr11 5204605 5204606 HbVar.830 - HBB:c.93-1G>A chr11 5204605 5204606 HbVar.831 - HBB:c.93-1G>C chr11 5204605 5204622 HbVar.834 - HBB:c.93-17_93-1delTATTTTCCCACCCTTAG chr11 5204606 5204607 HbVar.2527 - HBB:c.93-2A>G chr11 5204607 5204608 HbVar.829 - HBB:c.93-3T>G chr11 5204619 5204620 HbVar.828 - HBB:c.93-15T>G chr11 5204625 5204626 HbVar.827 - HBB:c.93-21G>A chr11 5204708 5204752 HbVar.975 - NG_000007.3:g.70670_70713del44 chr11 5204710 5205003 HbVar.977 - NG_000007.3:g.70419_70711del293 chr11 5204719 5212132 HbVar.742 - NG_000007.3:g.63290_70702del chr11 5204728 5204729 HbVar.2572 - HBB:c.92+7A>T chr11 5204729 5204730 HbVar.826 - HBB:c.92+6T>C chr11 5204730 5204731 HbVar.822 - HBB:c.92+5G>A chr11 5204730 5204731 HbVar.823 - HBB:c.92+5G>A chr11 5204730 5204731 HbVar.824 - HBB:c.92+5G>C chr11 5204730 5204731 HbVar.825 - HBB:c.92+5G>T chr11 5204733 5204734 HbVar.819 - HBB:c.92+2T>A chr11 5204733 5204734 HbVar.820 - HBB:c.92+2T>C chr11 5204733 5204734 HbVar.821 - HBB:c.92+2T>G chr11 5204734 5204735 HbVar.817 - HBB:c.92+1G>A chr11 5204734 5204735 HbVar.818 - HBB:c.92+1G>T chr11 5204735 5204736 HbVar.290 - HBB:c.92G>C chr11 5204735 5204736 HbVar.816 - HBB:c.92G>A chr11 5204736 5204737 HbVar.815 - HBB:c.91A>G chr11 5204737 5204738 HbVar.814 - HBB:c.90C>T chr11 5204738 5204739 HbVar.288 - HBB:c.89G>A chr11 5204739 5204740 HbVar.1202 - HBB:c.88G>A chr11 5204739 5204740 HbVar.813 - HBB:c.88delG chr11 5204741 5204742 HbVar.284 - HBB:c.86T>A chr11 5204741 5204742 HbVar.285 - HBB:c.86T>C chr11 5204741 5204742 HbVar.286 - HBB:c.86T>G chr11 5204742 5204743 HbVar.287 - HBB:c.85C>A chr11 5204742 5204743 HbVar.811 - HBB:c.85delC chr11 5204742 5204744 HbVar.810 - HBB:c.84_85insC chr11 5204744 5204745 HbVar.280 - HBB:c.83C>A chr11 5204744 5204745 HbVar.282 - HBB:c.83C>T chr11 5204744 5204745 HbVar.283 - HBB:c.83C>G chr11 5204745 5204746 HbVar.281 - HBB:c.82G>T chr11 5204747 5204748 HbVar.1203 - HBB:c.80A>C chr11 5204747 5204748 HbVar.278 - HBB:c.80A>T chr11 5204747 5204748 HbVar.279 - HBB:c.80A>G chr11 5204747 5204749 HbVar.809 - HBB:c.79_80insT chr11 5204748 5204749 HbVar.277 - HBB:c.79G>A chr11 5204748 5204749 HbVar.691 - HBB:c.[..79G>A..] chr11 5204748 5204749 HbVar.692 - HBB:c.[..79G>A..] chr11 5204748 5204749 HbVar.808 - HBB:c.79G>T chr11 5204748 5204750 HbVar.807 - HBB:c.78_79insT chr11 5204749 5204752 HbVar.806 - HBB:c.76_78delGGT chr11 5204749 5204755 HbVar.723 - HBB:c.73_75delGGT chr11 5204750 5204751 HbVar.276 - HBB:c.77G>A chr11 5204751 5204752 HbVar.275 - HBB:c.76G>C chr11 5204752 5204753 HbVar.805 - HBB:c.75T>A chr11 5204752 5204756 HbVar.804 - HBB:c.[..72_75insCAC..] chr11 5204753 5204754 HbVar.273 - HBB:c.74G>T chr11 5204753 5204754 HbVar.274 - HBB:c.74G>A chr11 5204753 5204755 HbVar.804 - HBB:c.[..73delG..] chr11 5204753 5204760 HbVar.803 - HBB:c.68_74delAAGTTGG chr11 5204754 5204755 HbVar.272 - HBB:c.73G>C chr11 5204755 5204758 HbVar.722 - HBB:c.70_72delGTT chr11 5204756 5204757 HbVar.1232 - HBB:c.71T>C chr11 5204756 5204757 HbVar.269 - HBB:c.71T>A chr11 5204756 5204757 HbVar.270 - HBB:c.71T>G chr11 5204757 5204758 HbVar.2631 - HBB:c.70G>A chr11 5204757 5204758 HbVar.271 - HBB:c.70G>T chr11 5204757 5204758 HbVar.683 - HBB:c.[..70G>A..] chr11 5204759 5204760 HbVar.265 - HBB:c.68A>G chr11 5204759 5204760 HbVar.266 - HBB:c.68A>C chr11 5204759 5204760 HbVar.268 - HBB:c.68A>T chr11 5204760 5204761 HbVar.264 - HBB:c.67G>A chr11 5204760 5204761 HbVar.267 - HBB:c.67G>C chr11 5204760 5204761 HbVar.802 - HBB:c.67G>T chr11 5204760 5212173 HbVar.745 - NG_000007.3:g.[..63249_70661del..] chr11 5204760 5212173 HbVar.746 - NG_000007.3:g.63249_70661dup chr11 5204762 5204763 HbVar.261 - HBB:c.65A>G chr11 5204762 5204763 HbVar.925 - HBB:c.65A>T chr11 5204763 5204764 HbVar.260 - HBB:c.64G>T chr11 5204763 5204764 HbVar.262 - HBB:c.64G>A chr11 5204763 5204764 HbVar.263 - HBB:c.64G>C chr11 5204765 5204766 HbVar.258 - HBB:c.62T>A chr11 5204765 5204766 HbVar.259 - HBB:c.62T>G chr11 5204766 5204767 HbVar.257 - HBB:c.61G>A chr11 5204767 5204768 HbVar.254 - HBB:c.[..60C>A..] or HBB:c.[..60C>G..] chr11 5204768 5204769 HbVar.256 - HBB:c.59A>G chr11 5204769 5204770 HbVar.255 - HBB:c.58A>G chr11 5204770 5204776 HbVar.721 - HBB:c.52_57delAAGGTG chr11 5204771 5204772 HbVar.253 - HBB:c.56T>G chr11 5204772 5204773 HbVar.252 - HBB:c.55G>A chr11 5204773 5204774 HbVar.250 - HBB:c.[..54G>C..] or HBB:c.[..54G>T..] chr11 5204775 5204776 HbVar.249 - HBB:c.52A>G chr11 5204775 5204776 HbVar.251 - HBB:c.52A>C chr11 5204775 5204776 HbVar.800 - HBB:c.52A>T chr11 5204776 5204777 HbVar.799 - HBB:c.51delC chr11 5204777 5204778 HbVar.247 - HBB:c.50G>A chr11 5204778 5204779 HbVar.248 - HBB:c.49G>C chr11 5204779 5204780 HbVar.793 - HBB:c.48G>A chr11 5204780 5204781 HbVar.791 - HBB:c.47G>A chr11 5204781 5204782 HbVar.245 - HBB:c.[..46T>A..] or HBB:c.[..46T>C..] chr11 5204781 5204782 HbVar.246 - HBB:c.46T>G chr11 5204781 5204782 HbVar.798 - HBB:c.46delT chr11 5204781 5204783 HbVar.790 - HBB:c.45_46insG chr11 5204783 5204784 HbVar.243 - HBB:c.44T>G chr11 5204783 5204784 HbVar.244 - HBB:c.44T>C chr11 5204786 5204787 HbVar.242 - HBB:c.41C>A chr11 5204791 5204792 HbVar.789 - HBB:c.36delT chr11 5204792 5204793 HbVar.240 - HBB:c.35T>A chr11 5204793 5204794 HbVar.1128 - HBB:c.[..34G>A..] chr11 5204793 5204794 HbVar.239 - HBB:c.34G>A chr11 5204793 5204794 HbVar.241 - HBB:c.34G>T chr11 5204794 5204795 HbVar.788 - HBB:c.33C>A chr11 5204795 5204796 HbVar.237 - HBB:c.32C>A chr11 5204795 5204796 HbVar.238 - HBB:c.32C>T chr11 5204796 5204797 HbVar.2589 - HBB:c.31G>A chr11 5204796 5204798 HbVar.787 - HBB:c.30_31insT chr11 5204796 5204902 HbVar.976 - NG_000007.3:g.70520_70625del105 chr11 5204798 5204799 HbVar.1125 - HBB:c.[..29C>A..] chr11 5204798 5204799 HbVar.1210 - HBB:c.29C>A chr11 5204798 5204799 HbVar.236 - HBB:c.29C>G chr11 5204799 5204801 HbVar.786 - HBB:c.27_28insG chr11 5204799 5205331 HbVar.978 - NG_000007.3:g.70091_70622del532 chr11 5204800 5204801 HbVar.1129 - HBB:c.27G>C chr11 5204801 5204802 HbVar.1257 - HBB:c.26A>G chr11 5204801 5204802 HbVar.232 - HBB:c.26A>C chr11 5204801 5204802 HbVar.235 - HBB:c.26A>T chr11 5204801 5204803 HbVar.785 - HBB:c.25_26delAA chr11 5204802 5204803 HbVar.233 - HBB:c.25A>C chr11 5204802 5204803 HbVar.234 - HBB:c.25A>G chr11 5204803 5204809 HbVar.720 - HBB:c.19_21delGAG chr11 5204804 5204805 HbVar.230 - HBB:c.23A>G chr11 5204805 5204806 HbVar.231 - HBB:c.22G>A chr11 5204807 5204808 HbVar.1173 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.1209 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.1214 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.226 - HBB:c.20A>T chr11 5204807 5204808 HbVar.228 - HBB:c.20A>C chr11 5204807 5204808 HbVar.2520 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.2580 - HBB:c.20A>G chr11 5204807 5204808 HbVar.683 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.684 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.685 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.686 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.687 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.688 - HBB:c.[..20A>T..] chr11 5204807 5204808 HbVar.784 - HBB:c.20delA chr11 5204808 5204809 HbVar.1246 - HBB:c.[..19G>A..] chr11 5204808 5204809 HbVar.227 - HBB:c.19G>A chr11 5204808 5204809 HbVar.229 - HBB:c.19G>C chr11 5204808 5204809 HbVar.689 - HBB:c.[..19G>A..] chr11 5204808 5204809 HbVar.690 - HBB:c.[..19G>A..] chr11 5204809 5204811 HbVar.783 - HBB:c.17_18delCT chr11 5204810 5204811 HbVar.224 - HBB:c.17C>G chr11 5204811 5204812 HbVar.1135 - HBB:c.[..16delC..] chr11 5204811 5204812 HbVar.1171 - HBB:c.16C>G chr11 5204811 5204812 HbVar.225 - HBB:c.16C>T chr11 5204812 5204821 HbVar.782 - HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT chr11 5204813 5204814 HbVar.2518 - HBB:c.14C>A chr11 5204816 5204817 HbVar.2588 - HBB:c.11T>A chr11 5204817 5204818 HbVar.1103 - HBB:c.10C>G chr11 5204818 5204819 HbVar.220 - HBB:c.[..9T>A..] or HBB:c.[..9T>G..] chr11 5204818 5204820 HbVar.1135 - HBB:c.[..8_9insC..] chr11 5204819 5204820 HbVar.219 - HBB:c.8A>G chr11 5204819 5204820 HbVar.222 - HBB:c.8A>T chr11 5204819 5204820 HbVar.223 - HBB:c.8A>C chr11 5204819 5204820 HbVar.714 - HBB:c.8A>C chr11 5204820 5204821 HbVar.221 - HBB:c.7C>T chr11 5204822 5204823 HbVar.217 - HBB:c.5T>C chr11 5204822 5204823 HbVar.712 - HBB:c.5T>A chr11 5204822 5204823 HbVar.913 - HBB:c.5T>G chr11 5204823 5204824 HbVar.218 - HBB:c.4G>T chr11 5204823 5204824 HbVar.713 - HBB:c.4G>A chr11 5204823 5204824 HbVar.781 - HBB:c.4delG chr11 5204824 5204825 HbVar.778 - HBB:c.3G>A chr11 5204824 5204825 HbVar.779 - HBB:c.3G>C chr11 5204824 5204825 HbVar.780 - HBB:c.3G>T chr11 5204825 5204826 HbVar.2530 - HBB:c.2T>A chr11 5204825 5204826 HbVar.776 - HBB:c.2T>C chr11 5204825 5204826 HbVar.777 - HBB:c.2T>G chr11 5204826 5204827 HbVar.775 - HBB:c.1A>G chr11 5204834 5204838 HbVar.774 - HBB:c.-11_-8delAAAC chr11 5204844 5204845 HbVar.773 - HBB:c.-18C>G chr11 5204855 5204856 HbVar.772 - HBB:c.-29G>A chr11 5204857 5204858 HbVar.2509 - HBB:c.-31C>T chr11 5204867 5204868 HbVar.771 - HBB:c.-41delT chr11 5204876 5204877 HbVar.770 - HBB:c.-50A>C chr11 5204901 5204902 HbVar.2535 - HBB:c.-75G>C chr11 5204902 5204904 HbVar.2537 - HBB:c.-77_-76delAA chr11 5204904 5204905 HbVar.768 - HBB:c.-78A>C chr11 5204904 5204905 HbVar.769 - HBB:c.-78A>G chr11 5204905 5204906 HbVar.767 - HBB:c.-79A>G chr11 5204906 5204907 HbVar.765 - HBB:c.-80T>A chr11 5204906 5204907 HbVar.766 - HBB:c.-80T>C chr11 5204907 5204908 HbVar.763 - HBB:c.-81A>C chr11 5204907 5204908 HbVar.764 - HBB:c.-81A>G chr11 5204908 5204909 HbVar.2536 - HBB:c.-82C>T chr11 5204908 5204909 HbVar.762 - HBB:c.-82C>A chr11 5204932 5204933 HbVar.2601 - HBB:c.-106G>C chr11 5204962 5204963 HbVar.760 - HBB:c.-136C>A chr11 5204962 5204963 HbVar.761 - HBB:c.-136C>G chr11 5204963 5204964 HbVar.757 - HBB:c.-137C>A chr11 5204963 5204964 HbVar.758 - HBB:c.-137C>G chr11 5204963 5204964 HbVar.759 - HBB:c.-137C>T chr11 5204964 5204965 HbVar.755 - HBB:c.-138C>A chr11 5204964 5204965 HbVar.756 - HBB:c.-138C>T chr11 5204966 5204967 HbVar.754 - HBB:c.-140C>T chr11 5204968 5204969 HbVar.752 - HBB:c.-142C>T chr11 5204969 5204970 HbVar.2517 - HBB:c.-143C>G chr11 5204977 5204978 HbVar.649 - HBB:c.-151C>T chr11 5207237 5307069 HbVar.1056 - NG_000007.3:g.-31648_68184del99833 chr11 5210570 5210571 HbVar.1004 - HBD:c.*+199G>A chr11 5210773 5210774 HbVar.1126 - HBD:c.440A>G chr11 5210785 5210786 HbVar.681 - HBD:c.428C>A chr11 5210788 5210789 HbVar.1003 - HBD:c.425T>C chr11 5210788 5210789 HbVar.680 - HBD:c.425T>C chr11 5210791 5210792 HbVar.2556 - HBD:c.422C>T chr11 5210799 5210802 HbVar.749 - HBD:c.412_414delGTG chr11 5210803 5210804 HbVar.679 - HBD:c.410G>A chr11 5210812 5210813 HbVar.1212 - HBD:c.401T>C chr11 5210837 5210838 HbVar.678 - HBD:c.376C>G chr11 5210848 5210849 HbVar.677 - HBD:c.365A>T chr11 5210861 5210862 HbVar.676 - HBD:c.352A>G chr11 5210863 5210864 HbVar.674 - HBD:c.350G>A chr11 5210864 5210865 HbVar.1002 - HBD:c.349C>T chr11 5210864 5210865 HbVar.675 - HBD:c.349C>T chr11 5210899 5210900 HbVar.1001 - HBD:c.316-2A>C chr11 5210902 5210903 HbVar.1196 - HBD:c.316-5C>T chr11 5210978 5218185 HbVar.1005 - NG_000007.3:g.57237_64443del7207 chr11 5211790 5211791 HbVar.1180 - HBD:c.315+6T>A chr11 5211796 5211797 HbVar.1169 - HBD:c.315G>T chr11 5211813 5211814 HbVar.673 - HBD:c.298G>A chr11 5211816 5211817 HbVar.672 - HBD:c.295G>A chr11 5211831 5211832 HbVar.671 - HBD:c.280T>G chr11 5211839 5211840 HbVar.670 - HBD:c.272A>T chr11 5211840 5211842 HbVar.1000 - HBD:c.270_271insT chr11 5211846 5211847 HbVar.1168 - HBD:c.265C>G chr11 5211849 5211850 HbVar.2555 - HBD:c.262C>A chr11 5211854 5211855 HbVar.669 - HBD:c.257T>C chr11 5211860 5211861 HbVar.668 - HBD:c.251G>A chr11 5211885 5211886 HbVar.667 - HBD:c.226C>G chr11 5211899 5211900 HbVar.2554 - HBD:c.212C>G chr11 5211903 5211904 HbVar.666 - HBD:c.208G>C chr11 5211931 5211932 HbVar.1238 - HBD:c.180G>C chr11 5211932 5211933 HbVar.2625 - HBD:c.179A>T chr11 5211933 5211934 HbVar.999 - HBD:c.178delA chr11 5211937 5211938 HbVar.1167 - HBD:c.174C>A chr11 5211956 5211957 HbVar.665 - HBD:c.155C>G chr11 5211968 5211969 HbVar.664 - HBD:c.143A>T chr11 5211980 5211981 HbVar.663 - HBD:c.131A>G chr11 5211981 5211982 HbVar.662 - HBD:c.130G>A chr11 5211998 5211999 HbVar.998 - HBD:c.113G>A chr11 5212001 5212002 HbVar.661 - HBD:c.110C>A chr11 5212019 5212020 HbVar.1197 - HBD:c.93-1G>C chr11 5212145 5212146 HbVar.997 - HBD:c.92+2T>C chr11 5212147 5212148 HbVar.996 - HBD:c.92G>C chr11 5212157 5212158 HbVar.660 - HBD:c.82G>T chr11 5212158 5212159 HbVar.659 - HBD:c.81G>C chr11 5212162 5212163 HbVar.658 - HBD:c.77G>A chr11 5212165 5212166 HbVar.657 - HBD:c.74G>A chr11 5212171 5212172 HbVar.656 - HBD:c.68C>A chr11 5212177 5212178 HbVar.655 - HBD:c.62T>A chr11 5212190 5212191 HbVar.654 - HBD:c.49G>C chr11 5212198 5212199 HbVar.1248 - HBD:c.41C>A chr11 5212200 5212201 HbVar.653 - HBD:c.39T>A chr11 5212204 5212205 HbVar.652 - HBD:c.35T>G chr11 5212214 5212215 HbVar.1107 - HBD:c.25A>G chr11 5212216 5212217 HbVar.2576 - HBD:c.23A>C chr11 5212225 5212226 HbVar.2615 - HBD:c.14C>G chr11 5212225 5212226 HbVar.995 - HBD:c.14C>T chr11 5212231 5212232 HbVar.2550 - HBD:c.8A>T chr11 5212231 5212232 HbVar.651 - HBD:c.8A>G chr11 5212234 5212235 HbVar.650 - HBD:c.5T>C chr11 5212318 5212319 HbVar.1194 - HBD:c.-80T>C chr11 5212319 5212320 HbVar.1186 - HBD:c.-81A>G chr11 5212324 5212325 HbVar.994 - HBD:c.-86C>A chr11 5212343 5212344 HbVar.993 - HBD:c.-105T>C chr11 5212353 5212354 HbVar.992 - HBD:c.-115A>G chr11 5212364 5212365 HbVar.1179 - HBD:c.-126A>T chr11 5212365 5212366 HbVar.991 - HBD:c.-127T>C chr11 5226198 5226199 HbVar.1208 - HBG1:c.410C>G chr11 5226199 5226200 HbVar.1218 - HBG1:c.409G>T chr11 5226205 5226206 HbVar.639 - HBG1:c.403G>A chr11 5226223 5226224 HbVar.638 - HBG1:c.385G>A chr11 5226244 5226245 HbVar.1146 - HBG1:c.364G>C chr11 5226244 5226245 HbVar.637 - HBG1:c.364G>A chr11 5226244 5226245 HbVar.648 - HBG1:c.364G>A chr11 5226281 5226282 HbVar.642 - HBG1:c.[..327T>A..] chr11 5227195 5227196 HbVar.636 - HBG1:c.293A>G chr11 5227247 5227248 HbVar.635 - HBG1:c.241G>T chr11 5227247 5227248 HbVar.647 - HBG1:c.241G>A chr11 5227250 5227251 HbVar.634 - HBG1:c.238G>A chr11 5227261 5227262 HbVar.633 - HBG1:c.227C>C chr11 5227268 5227269 HbVar.632 - HBG1:c.220G>C chr11 5227268 5227269 HbVar.646 - HBG1:c.220G>A chr11 5227271 5227272 HbVar.631 - HBG1:c.217G>C chr11 5227304 5227305 HbVar.630 - HBG1:c.184A>G chr11 5227327 5227328 HbVar.629 - HBG1:c.161C>A chr11 5227358 5227359 HbVar.645 - HBG1:c.130G>A chr11 5227366 5227367 HbVar.628 - HBG1:c.122G>A chr11 5227369 5227370 HbVar.627 - HBG1:c.119A>G chr11 5227376 5227377 HbVar.626 - HBG1:c.112T>G chr11 5227378 5227379 HbVar.625 - HBG1:c.110C>G chr11 5227534 5227535 HbVar.644 - HBG1:c.76G>C chr11 5227538 5227541 HbVar.643 - HBG1:c.70_72delGCT chr11 5227542 5227543 HbVar.624 - HBG1:c.68A>G chr11 5227572 5227573 HbVar.623 - HBG1:c.38C>G chr11 5227572 5227573 HbVar.641 - HBG1:c.[..38C>A..] chr11 5227590 5227591 HbVar.621 - HBG1:c.20A>G chr11 5227591 5227592 HbVar.622 - HBG1:c.19G>C chr11 5227591 5227592 HbVar.640 - HBG1:c.[..19G>A..] chr11 5227594 5227595 HbVar.620 - HBG1:c.16G>A chr11 5227601 5227602 HbVar.619 - HBG1:c.9T>G chr11 5227764 5227777 HbVar.1020 - HBG1:c.-167_-155delCAATAGCCTTGAC chr11 5227776 5227777 HbVar.1018 - HBG1:c.-167C>T chr11 5227779 5227780 HbVar.1014 - HBG1:c.-170G>A chr11 5227779 5227780 HbVar.1015 - HBG1:c.-170G>A chr11 5227820 5227821 HbVar.2512 - HBG1:c.-211C>T chr11 5227837 5227838 HbVar.1013 - HBG1:c.-228T>C chr11 5227857 5227858 HbVar.1011 - HBG1:c.-248C>G chr11 5227858 5227859 HbVar.1010 - HBG1:c.-249C>T chr11 5227860 5227861 HbVar.1009 - HBG1:c.-251T>C chr11 5227864 5227865 HbVar.1007 - HBG1:c.-255C>T chr11 5227873 5227874 HbVar.2513 - HBG1:c.-264C>T chr11 5231087 5231088 HbVar.618 - HBG2:c.439C>T chr11 5231135 5231136 HbVar.617 - HBG2:c.391T>G chr11 5231149 5231150 HbVar.616 - HBG2:c.377A>C chr11 5231162 5231163 HbVar.615 - HBG2:c.364G>A chr11 5231165 5231166 HbVar.614 - HBG2:c.361A>C chr11 5231171 5231172 HbVar.892 - HBG2:c.355T>C chr11 5231173 5231174 HbVar.613 - HBG2:c.353A>G chr11 5231199 5231200 HbVar.642 - HBG2:c.[..327T>A..] chr11 5232097 5232098 HbVar.612 - HBG2:c.315G>C chr11 5232104 5232105 HbVar.2629 - HBG2:c.308A>C chr11 5232108 5232109 HbVar.611 - HBG2:c.304G>A chr11 5232119 5232120 HbVar.2617 - HBG2:c.293A>G chr11 5232129 5232130 HbVar.610 - HBG2:c.283G>A chr11 5232135 5232136 HbVar.609 - HBG2:c.277C>T chr11 5232171 5232172 HbVar.608 - HBG2:c.241G>A chr11 5232174 5232175 HbVar.2618 - HBG2:c.238G>C chr11 5232179 5232180 HbVar.607 - HBG2:c.233A>G chr11 5232185 5232186 HbVar.606 - HBG2:c.227T>C chr11 5232186 5232187 HbVar.1115 - HBG2:c.226A>G chr11 5232195 5232196 HbVar.605 - HBG2:c.217G>C chr11 5232212 5232213 HbVar.603 - HBG2:c.200A>G chr11 5232213 5232214 HbVar.604 - HBG2:c.199A>C chr11 5232214 5232215 HbVar.602 - HBG2:c.[..198G>C..] or HBG2:c.[..198G>T..] chr11 5232222 5232223 HbVar.601 - HBG2:c.190C>T chr11 5232234 5232235 HbVar.599 - HBG2:c.178A>C chr11 5232234 5232235 HbVar.600 - HBG2:c.178A>G chr11 5232245 5232246 HbVar.598 - HBG2:c.167T>G chr11 5232279 5232280 HbVar.597 - HBG2:c.133A>C chr11 5232287 5232288 HbVar.596 - HBG2:c.125T>C chr11 5232290 5232291 HbVar.594 - HBG2:c.122G>A chr11 5232291 5232292 HbVar.595 - HBG2:c.121A>G chr11 5232297 5232298 HbVar.1152 - HBG2:c.115A>C chr11 5232309 5232310 HbVar.593 - HBG2:c.103G>A chr11 5232455 5232456 HbVar.592 - HBG2:c.79G>A chr11 5232457 5232458 HbVar.591 - HBG2:c.77G>A chr11 5232466 5232467 HbVar.589 - HBG2:c.68A>G chr11 5232466 5232467 HbVar.590 - HBG2:c.68A>T chr11 5232470 5232471 HbVar.587 - HBG2:c.64G>C chr11 5232470 5232471 HbVar.588 - HBG2:c.64G>A chr11 5232472 5232473 HbVar.2526 - HBG2:c.62T>C chr11 5232474 5232475 HbVar.852 - HBG2:c.[..60T>A..] or HBG2:c.[..60T>G..] chr11 5232480 5232481 HbVar.872 - HBG2:c.[..54G>C..] or HBG2:c.[..54G>T..] chr11 5232485 5232486 HbVar.586 - HBG2:c.49G>C chr11 5232488 5232489 HbVar.585 - HBG2:c.46T>C chr11 5232496 5232497 HbVar.584 - HBG2:c.38C>G chr11 5232496 5232497 HbVar.641 - HBG2:c.[..38C>A..] chr11 5232509 5232510 HbVar.583 - HBG2:c.[..25A>C..] or HBG2:c.[..25A>G..] chr11 5232512 5232513 HbVar.582 - HBG2:c.22G>A chr11 5232515 5232516 HbVar.640 - HBG2:c.[..19G>A..] chr11 5232517 5232518 HbVar.581 - HBG2:c.17A>G chr11 5232530 5232531 HbVar.580 - HBG2:c.4G>T chr11 5232696 5232697 HbVar.1019 - HBG2:c.-163A>C chr11 5232700 5232701 HbVar.1016 - HBG2:c.-167C>G chr11 5232700 5232701 HbVar.1017 - HBG2:c.-167C>T chr11 5232700 5232701 HbVar.1163 - HBG2:c.-167C>A chr11 5232761 5232762 HbVar.1012 - HBG2:c.-228T>C chr11 5232788 5232789 HbVar.1006 - HBG2:c.-255C>G chr11 5257378 5297161 HbVar.1058 - NG_000007.3:g.-21740_18043del39787 chr16 1 112801 HbVar.1254 + NG_000006.1:g.-129135_-16336del112800 chr16 129299 172500 HbVar.1102 + NG_000006.1:g.164_43364del43201 chr16 137599 169800 HbVar.1096 + NG_000006.1:g.8464_40664del32201 chr16 139799 173300 HbVar.1095 + NG_000006.1:g.10664_44164del33501 chr16 139999 170000 HbVar.1097 + NG_000006.1:g.10864_40864del30001 chr16 140819 172670 HbVar.1094 + NG_000006.1:g.11684_43534del31851 chr16 141399 178300 HbVar.1100 + NG_000006.1:g.12264_49164del36901 chr16 142449 253800 HbVar.1093 + NG_000006.1:g.13314_124664del111351 chr16 144299 167000 HbVar.1088 + NG_000006.1:g.15164_37864del22701 chr16 145499 174800 HbVar.1091 + NG_000006.1:g.16364_45664del29301 chr16 148099 169000 HbVar.1089 + NG_000006.1:g.18964_39864del20901 chr16 148599 172200 HbVar.1090 + NG_000006.1:g.19464_43064del23601 chr16 153799 170200 HbVar.1087 + NG_000006.1:g.24664_41064del16401 chr16 155399 174700 HbVar.1086 + NG_000006.1:g.26264_45564del19301 chr16 157819 163066 HbVar.1080 + NG_000006.1:g.28684_33930del5246 chr16 158499 171600 HbVar.1085 + NG_000006.1:g.29364_42464del13101 chr16 159999 170550 HbVar.1084 + NG_000006.1:g.30864_41414del10551 chr16 161999 171400 HbVar.1083 + NG_000006.1:g.32864_42264del9401 chr16 162911 162912 HbVar.1059 + HBA2:c.1A>G chr16 162911 162912 HbVar.1175 + HBA2:c.1A>G chr16 162912 162913 HbVar.1061 + HBA2:c.2T>C chr16 162912 162913 HbVar.1062 + HBA2:c.2delT chr16 162914 162915 HbVar.2577 + HBA2:c.4G>A chr16 162914 162915 HbVar.2605 + HBA2:c.4G>C chr16 162915 162916 HbVar.1 + HBA2:c.[..5T>G..] chr16 162915 162916 HbVar.1111 + HBA2:c.5T>C chr16 162915 162916 HbVar.711 + HBA2:c.[..5T>A..] chr16 162918 162919 HbVar.2 + HBA2:c.[..8T>G..] chr16 162920 162921 HbVar.2635 + HBA2:c.[..10T>C..] chr16 162924 162925 HbVar.2541 + HBA2:c.14C>A chr16 162926 162927 HbVar.4 + HBA2:c.[..16G>C..] chr16 162927 162928 HbVar.3 + HBA2:c.[..17C>A..] chr16 162929 162930 HbVar.2579 + HBA2:c.19G>C chr16 162929 162930 HbVar.6 + HBA2:c.[..19G>A..] chr16 162929 162930 HbVar.8 + HBA2:c.[..19G>T..] chr16 162929 162932 HbVar.715 + HBA2:c.[..19_21delGAC..] chr16 162930 162931 HbVar.5 + HBA2:c.[..20A>C..] chr16 162930 162931 HbVar.7 + HBA2:c.[..20A>T..] chr16 162930 162931 HbVar.9 + HBA2:c.[..20A>G..] chr16 162932 162933 HbVar.11 + HBA2:c.[..22A>G..] chr16 162933 162934 HbVar.2610 + HBA2:c.23A>G chr16 162934 162935 HbVar.10 + HBA2:c.[..24G>C..] chr16 162939 162940 HbVar.1116 + HBA2:c.29A>G chr16 162939 162940 HbVar.1239 + HBA2:c.[..29A>C..] chr16 162940 162941 HbVar.914 + HBA2:c.30C>G chr16 162944 162945 HbVar.13 + HBA2:c.[..34A>C..] chr16 162944 162947 HbVar.12 + HBA2:p.[..Lys12Glu..] chr16 162946 162947 HbVar.14 + HBA2:c.[..36G>C..] or HBA2:c.[..36G>T..] chr16 162948 162949 HbVar.15 + HBA2:c.[..38C>A..] chr16 162950 162951 HbVar.1240 + HBA2:c.[..40G>C..] chr16 162953 162954 HbVar.16 + HBA2:c.[..43T>A..] or HBA2:c.[..43T>C..] chr16 162955 162956 HbVar.2587 + HBA2:c.45G>C chr16 162956 162957 HbVar.18 + HBA2:c.[..46G>C..] chr16 162959 162960 HbVar.19 + HBA2:c.49A>G chr16 162960 162961 HbVar.1217 + HBA2:c.50A>C chr16 162960 162961 HbVar.21 + HBA2:c.[..50A>T..] chr16 162961 162962 HbVar.20 + HBA2:c.[..51G>C..] or HBA2:c.[..51G>T..] chr16 162965 162966 HbVar.22 + HBA2:c.[..55G>C..] chr16 162966 162967 HbVar.23 + HBA2:c.[..56G>A..] chr16 162966 162967 HbVar.2516 + HBA2:c.56delG chr16 162968 162971 HbVar.24 + HBA2:p.[..Ala20Asp..] chr16 162969 162970 HbVar.25 + HBA2:c.[..59C>A..] chr16 162971 162972 HbVar.26 + HBA2:c.[..61C>T..] chr16 162971 162972 HbVar.911 + HBA2:c.61C>G chr16 162972 162973 HbVar.28 + HBA2:c.[..62A>G..] chr16 162972 162973 HbVar.910 + HBA2:c.[..62A>C..] chr16 162973 162974 HbVar.27 + HBA2:c.63C>A chr16 162974 162975 HbVar.2606 + HBA2:c.64G>T chr16 162974 162975 HbVar.30 + HBA2:c.[..64G>C..] chr16 162975 162976 HbVar.29 + HBA2:c.[..65C>A..] chr16 162978 162979 HbVar.31 + HBA2:c.[..68G>A..] chr16 162979 162980 HbVar.2514 + HBA2:c.69C>T chr16 162980 162981 HbVar.2531 + HBA2:c.70G>T chr16 162980 162981 HbVar.32 + HBA2:c.[..70G>C..] chr16 162980 162981 HbVar.33 + HBA2:c.[..70G>A..] chr16 162981 162982 HbVar.34 + HBA2:c.[..71A>T..] chr16 162981 162982 HbVar.35 + HBA2:c.[..71A>G..] chr16 162982 162983 HbVar.36 + HBA2:c.[..72G>T..] chr16 162983 162984 HbVar.2501 + HBA2:c.73T>G chr16 162983 162984 HbVar.37 + HBA2:c.[..73T>C..] chr16 162989 162990 HbVar.40 + HBA2:c.79G>A chr16 162990 162991 HbVar.39 + HBA2:c.[..80C>A..] chr16 162990 162991 HbVar.832 + HBA2:c.80C>T chr16 162992 162993 HbVar.43 + HBA2:c.[..82G>A..] chr16 162993 162994 HbVar.1241 + HBA2:c.[..83A>C..] chr16 162993 162994 HbVar.41 + HBA2:c.[..83A>G..] chr16 162993 162994 HbVar.42 + HBA2:c.[..83A>T..] chr16 162994 162995 HbVar.44 + HBA2:c.84G>C chr16 162999 163000 HbVar.45 + HBA2:c.89T>C chr16 163001 163002 HbVar.46 + HBA2:c.[..91G>A..] chr16 163001 163002 HbVar.47 + HBA2:c.[..91G>C..] chr16 163006 163007 HbVar.2597 + HBA2:c.95+1G>T chr16 163007 163012 HbVar.1065 + HBA2:c.95+2_95+6delTGAGG chr16 163010 163011 HbVar.2598 + HBA2:c.95+5G>A chr16 163060 163061 HbVar.2600 + HBA2:c.95+55G>A chr16 163121 163122 HbVar.1066 + HBA2:c.96-2A>G chr16 163123 163124 HbVar.48 + HBA2:c.[..96G>C..] or HBA2:c.[..96G>T..] chr16 163126 163127 HbVar.1235 + HBA2:c.99G>A chr16 163128 163129 HbVar.1159 + HBA2:c.101T>C chr16 163131 163132 HbVar.49 + HBA2:c.[..104T>G..] chr16 163133 163134 HbVar.2570 + HBA2:c.106T>C chr16 163134 163135 HbVar.50 + HBA2:c.107C>A chr16 163136 163137 HbVar.2595 + HBA2:c.109T>C chr16 163140 163141 HbVar.1155 + HBA2:c.113C>T chr16 163140 163141 HbVar.51 + HBA2:c.[..113C>G..] chr16 163141 163143 HbVar.732 + HBA2:c.[..114_115insGAA..] chr16 163143 163144 HbVar.1242 + HBA2:c.[..116C>T..] chr16 163148 163149 HbVar.1255 + HBA2:c.121A>C chr16 163148 163149 HbVar.2637 + HBA2:c.[..121A>G..] chr16 163148 163149 HbVar.52 + HBA2:c.[..121A>G..] chr16 163149 163150 HbVar.53 + HBA2:c.122A>T chr16 163150 163151 HbVar.2621 + HBA2:c.123G>C chr16 163151 163152 HbVar.54 + HBA2:c.[..124A>T..] chr16 163152 163153 HbVar.54 + HBA2:c.[..125C>G..] chr16 163154 163155 HbVar.1190 + HBA2:c.127T>C chr16 163157 163158 HbVar.2620 + HBA2:c.130T>A chr16 163157 163158 HbVar.55 + HBA2:c.[..130T>G..] chr16 163159 163160 HbVar.56 + HBA2:c.132C>G chr16 163160 163161 HbVar.1139 + HBA2:c.[..133C>G..] chr16 163161 163162 HbVar.57 + HBA2:c.[..134C>T..] chr16 163161 163162 HbVar.58 + HBA2:c.[..134C>G..] chr16 163163 163164 HbVar.61 + HBA2:c.[..136C>G..] chr16 163163 163164 HbVar.63 + HBA2:c.[..136C>T..] chr16 163164 163165 HbVar.59 + HBA2:c.[..137A>G..] chr16 163164 163165 HbVar.62 + HBA2:c.137A>C chr16 163165 163166 HbVar.60 + HBA2:c.[..138C>G..] chr16 163166 163167 HbVar.2634 + HBA2:c.[..139T>G..] chr16 163166 163167 HbVar.915 + HBA2:c.[..139T>C..] chr16 163168 163169 HbVar.915 + HBA2:c.[..141C>G..] or HBA2:c.[..141C>G..] chr16 163169 163170 HbVar.65 + HBA2:c.142G>C chr16 163169 163170 HbVar.66 + HBA2:c.[..142G>A..] chr16 163169 163170 HbVar.68 + HBA2:c.142G>T chr16 163170 163171 HbVar.64 + HBA2:c.[..143A>G..] chr16 163170 163171 HbVar.67 + HBA2:c.[..143A>C..] chr16 163173 163174 HbVar.2636 + HBA2:c.[..146T>C..] chr16 163173 163174 HbVar.69 + HBA2:c.146T>G chr16 163176 163178 HbVar.2575 + HBA2:c.149_150delGC chr16 163177 163178 HbVar.70 + HBA2:c.150C>A chr16 163178 163179 HbVar.71 + HBA2:c.151C>G chr16 163179 163180 HbVar.1243 + HBA2:c.[..152A>T..] chr16 163179 163180 HbVar.72 + HBA2:c.[..152A>G..] chr16 163180 163181 HbVar.73 + HBA2:c.[..153C>A..] or HBA2:c.[..153C>G..] chr16 163181 163182 HbVar.75 + HBA2:c.[..154G>C..] chr16 163182 163183 HbVar.74 + HBA2:c.[..155G>A..] chr16 163185 163186 HbVar.2627 + HBA2:c.158C>T chr16 163188 163189 HbVar.76 + HBA2:c.[..161C>A..] chr16 163190 163191 HbVar.78 + HBA2:c.[..163C>G..] chr16 163191 163192 HbVar.77 + HBA2:c.[..164A>G..] chr16 163194 163195 HbVar.1114 + HBA2:c.167T>C chr16 163196 163197 HbVar.80 + HBA2:c.[..169A>G..] chr16 163197 163198 HbVar.79 + HBA2:c.[..170A>C..] chr16 163197 163198 HbVar.82 + HBA2:c.[..170A>G..] chr16 163198 163199 HbVar.81 + HBA2:c.[..171G>C..] or HBA2:c.[..171G>T..] chr16 163199 163200 HbVar.83 + HBA2:c.[..172G>C..] chr16 163200 163201 HbVar.84 + HBA2:c.[..173G>A..] chr16 163202 163203 HbVar.85 + HBA2:c.[..175C>T..] chr16 163204 163205 HbVar.894 + HBA2:c.177C>A chr16 163205 163206 HbVar.1199 + HBA2:c.178G>C chr16 163206 163207 HbVar.86 + HBA2:c.[..179G>T..] chr16 163206 163207 HbVar.87 + HBA2:c.[..179G>A..] chr16 163208 163209 HbVar.89 + HBA2:c.[..181A>G..] chr16 163210 163211 HbVar.88 + HBA2:c.[..183G>C..] or HBA2:c.[..183G>T..] chr16 163211 163212 HbVar.92 + HBA2:c.[..184A>G..] chr16 163212 163213 HbVar.91 + HBA2:c.185A>C chr16 163213 163214 HbVar.90 + HBA2:c.[..186G>C..] or HBA2:c.[..186G>T..] chr16 163214 163215 HbVar.93 + HBA2:c.187G>A chr16 163218 163219 HbVar.94 + HBA2:c.[..191C>A..] chr16 163220 163221 HbVar.95 + HBA2:c.193G>A chr16 163220 163221 HbVar.96 + HBA2:c.[..193G>T..] chr16 163221 163222 HbVar.98 + HBA2:c.[..194A>G..] chr16 163223 163224 HbVar.1187 + HBA2:c.196G>A chr16 163224 163225 HbVar.99 + HBA2:c.[..197C>T..] chr16 163227 163228 HbVar.916 + HBA2:c.200T>C chr16 163232 163233 HbVar.101 + HBA2:c.[..205A>G..] chr16 163232 163233 HbVar.2591 + HBA2:c.205A>C chr16 163234 163235 HbVar.100 + HBA2:c.[..207C>A..] or HBA2:c.[..207C>G..] chr16 163235 163236 HbVar.1188 + HBA2:c.208G>A chr16 163242 163243 HbVar.102 + HBA2:c.[..215C>A..] chr16 163242 163243 HbVar.103 + HBA2:c.[..215C>T..] chr16 163244 163245 HbVar.106 + HBA2:c.[..217C>T..] chr16 163244 163245 HbVar.917 + HBA2:c.217C>G chr16 163245 163246 HbVar.104 + HBA2:c.[..218A>G..] chr16 163246 163247 HbVar.105 + HBA2:c.219C>A chr16 163250 163251 HbVar.109 + HBA2:c.[..223G>A..] chr16 163250 163256 HbVar.718 + HBA2:c.223_225delGAC chr16 163251 163252 HbVar.108 + HBA2:c.[..224A>C..] chr16 163253 163254 HbVar.111 + HBA2:c.[..226G>C..] chr16 163253 163254 HbVar.113 + HBA2:c.[..226G>T..] chr16 163253 163254 HbVar.114 + HBA2:c.[..226G>A..] chr16 163254 163255 HbVar.115 + HBA2:c.[..227A>G..] chr16 163254 163255 HbVar.1250 + HBA2:c.227A>T chr16 163257 163258 HbVar.116 + HBA2:c.[..230T>A..] chr16 163257 163258 HbVar.117 + HBA2:c.[..230T>C..] chr16 163257 163258 HbVar.1244 + HBA2:c.[..230T>G..] chr16 163258 163259 HbVar.1223 + HBA2:c.231G>A chr16 163260 163261 HbVar.118 + HBA2:c.[..233C>G..] chr16 163260 163261 HbVar.2624 + HBA2:c.233C>T chr16 163260 163261 HbVar.900 + HBA2:c.233C>A chr16 163262 163263 HbVar.120 + HBA2:c.[..235A>G..] chr16 163264 163265 HbVar.119 + HBA2:c.[..237C>G..] chr16 163265 163266 HbVar.122 + HBA2:c.[..238G>A..] chr16 163266 163267 HbVar.682 + HBA2:c.239C>G chr16 163268 163269 HbVar.124 + HBA2:c.241C>G chr16 163269 163270 HbVar.123 + HBA2:c.[..242T>G..] chr16 163271 163272 HbVar.1211 + HBA2:c.244T>C chr16 163272 163273 HbVar.125 + HBA2:c.[..245C>G..] chr16 163275 163276 HbVar.126 + HBA2:c.[..248C>A..] chr16 163278 163279 HbVar.127 + HBA2:c.251T>C chr16 163280 163281 HbVar.128 + HBA2:c.[..253A>C..] chr16 163280 163281 HbVar.924 + HBA2:c.[..253A>G..] chr16 163282 163283 HbVar.128 + HBA2:c.[..255C>A..] or HBA2:c.[..255C>G..] chr16 163283 163284 HbVar.129 + HBA2:c.[..256G>A..] chr16 163283 163284 HbVar.130 + HBA2:c.[..256G>T..] chr16 163284 163285 HbVar.131 + HBA2:c.257A>T chr16 163287 163288 HbVar.132 + HBA2:c.[..260T>G..] chr16 163288 163290 HbVar.902 + HBA2:c.[..261_262insSerAspLeu..] chr16 163289 163290 HbVar.134 + HBA2:c.[..262C>T..] chr16 163289 163290 HbVar.135 + HBA2:c.[..262C>A..] chr16 163290 163291 HbVar.133 + HBA2:c.[..263A>G..] chr16 163290 163291 HbVar.918 + HBA2:c.[..263A>C..] chr16 163292 163293 HbVar.136 + HBA2:c.[..265G>T..] chr16 163293 163294 HbVar.137 + HBA2:c.[..266C>T..] chr16 163293 163294 HbVar.138 + HBA2:c.[..266C>G..] chr16 163293 163294 HbVar.2639 + HBA2:c.[..266C>A..] chr16 163295 163296 HbVar.140 + HBA2:c.[..268C>T..] chr16 163296 163297 HbVar.1109 + HBA2:c.[..269A>G..] chr16 163296 163297 HbVar.139 + HBA2:c.[..269A>T..] chr16 163296 163297 HbVar.141 + HBA2:c.[..269A>C..] chr16 163298 163299 HbVar.2532 + HBA2:c.271A>T chr16 163299 163300 HbVar.144 + HBA2:c.[..272A>T..] chr16 163299 163300 HbVar.912 + HBA2:c.272A>G chr16 163299 167103 HbVar.1076 + NG_000006.1:g.34164_37967del3804 chr16 163300 163301 HbVar.142 + HBA2:c.[..273G>T..] chr16 163302 163303 HbVar.145 + HBA2:c.[..275T>C..] chr16 163304 163305 HbVar.147 + HBA2:c.[..277C>T..] chr16 163305 163306 HbVar.146 + HBA2:c.[..278G>A..] chr16 163305 163306 HbVar.148 + HBA2:c.[..278G>T..] chr16 163305 163306 HbVar.149 + HBA2:c.278G>C chr16 163308 163309 HbVar.150 + HBA2:c.281T>G chr16 163310 163311 HbVar.151 + HBA2:c.[..283G>A..] chr16 163310 163311 HbVar.152 + HBA2:c.283G>T chr16 163310 163311 HbVar.153 + HBA2:c.283G>C chr16 163311 163312 HbVar.156 + HBA2:c.[..284A>C..] chr16 163311 163312 HbVar.2563 + HBA2:c.284A>T chr16 163312 163313 HbVar.155 + HBA2:c.[..285C>G..] chr16 163313 163314 HbVar.158 + HBA2:c.[..286C>T..] chr16 163313 163314 HbVar.159 + HBA2:c.[..286C>G..] chr16 163313 163314 HbVar.161 + HBA2:c.[..286C>A..] chr16 163314 163315 HbVar.157 + HBA2:c.287C>T chr16 163317 163318 HbVar.1183 + HBA2:c.290T>A chr16 163319 163320 HbVar.163 + HBA2:c.292A>C chr16 163319 163320 HbVar.2640 + HBA2:c.[..292A>T..] chr16 163321 163322 HbVar.162 + HBA2:c.294C>A chr16 163325 163326 HbVar.164 + HBA2:c.[..298A>G..] chr16 163329 163330 HbVar.2522 + HBA2:c.300+2T>A chr16 163476 163477 HbVar.165 + HBA2:c.307A>C chr16 163478 163479 HbVar.1121 + HBA2:c.309C>A chr16 163479 163480 HbVar.921 + HBA2:c.310C>T chr16 163480 163481 HbVar.166 + HBA2:c.[..311A>G..] chr16 163480 163481 HbVar.2519 + HBA2:c.311A>T chr16 163483 163484 HbVar.167 + HBA2:c.314G>A chr16 163495 163496 HbVar.2539 + HBA2:c.326C>A chr16 163498 163499 HbVar.168 + HBA2:c.329T>G chr16 163500 163501 HbVar.170 + HBA2:c.[..331G>A..] chr16 163501 163502 HbVar.169 + HBA2:c.[..332C>A..] chr16 163503 163504 HbVar.172 + HBA2:c.[..334G>A..] chr16 163504 163505 HbVar.171 + HBA2:c.335C>T chr16 163506 163507 HbVar.173 + HBA2:c.[..337C>G..] chr16 163507 163508 HbVar.174 + HBA2:c.[..338A>G..] chr16 163508 163509 HbVar.937 + HBA2:c.[..339C>G..] chr16 163509 163521 HbVar.937 + HBA2:c.[..340_351delCTCCCCGCCGAG..] chr16 163510 163511 HbVar.175 + HBA2:c.[..341T>A..] chr16 163510 163511 HbVar.922 + HBA2:c.341T>G chr16 163512 163513 HbVar.178 + HBA2:c.[..343C>T..] chr16 163513 163514 HbVar.176 + HBA2:c.[..344C>G..] chr16 163513 163514 HbVar.177 + HBA2:c.[..344C>T..] chr16 163516 163517 HbVar.179 + HBA2:c.[..347C>A..] chr16 163518 163519 HbVar.1069 + HBA2:c.349G>T chr16 163518 163519 HbVar.182 + HBA2:c.[..349G>C..] chr16 163519 163520 HbVar.181 + HBA2:c.[..350A>C..] chr16 163520 163522 HbVar.733 + HBA2:c.[..351_352insHisLeuProAlaGlu..] chr16 163521 163522 HbVar.2612 + HBA2:c.352T>A chr16 163526 163528 HbVar.735 + HBA2:c.[..357_358insGluPheThr..] chr16 163531 163532 HbVar.183 + HBA2:c.[..362C>A..] chr16 163533 163534 HbVar.184 + HBA2:c.[..364G>A..] chr16 163538 163539 HbVar.185 + HBA2:c.369C>G chr16 163539 163540 HbVar.923 + HBA2:c.370G>A chr16 163542 163543 HbVar.1172 + HBA2:c.373T>C chr16 163546 163547 HbVar.1226 + HBA2:c.377T>G chr16 163546 163547 HbVar.187 + HBA2:c.377T>C chr16 163546 163547 HbVar.2592 + HBA2:c.377T>A chr16 163548 163549 HbVar.188 + HBA2:c.[..379G>A..] chr16 163548 163549 HbVar.191 + HBA2:c.[..379G>T..] chr16 163549 163550 HbVar.190 + HBA2:c.[..380A>T..] chr16 163549 163550 HbVar.192 + HBA2:c.[..380A>G..] chr16 163552 163553 HbVar.193 + HBA2:c.[..383A>C..] chr16 163553 163554 HbVar.194 + HBA2:c.[..384G>C..] or HBA2:c.[..384G>T..] chr16 163558 163559 HbVar.196 + HBA2:c.389T>C chr16 163560 163561 HbVar.197 + HBA2:c.391G>C chr16 163561 163562 HbVar.198 + HBA2:c.392C>A chr16 163563 163564 HbVar.199 + HBA2:c.[..394T>C..] chr16 163567 163568 HbVar.200 + HBA2:c.[..398T>G..] chr16 163569 163572 HbVar.201 + HBA2:p.[..Ser134Arg..] chr16 163570 163571 HbVar.202 + HBA2:c.[..401G>A..] chr16 163572 163573 HbVar.2565 + HBA2:c.403A>G chr16 163575 163576 HbVar.2569 + HBA2:c.406G>C chr16 163576 163577 HbVar.203 + HBA2:c.[..407T>A..] chr16 163578 163579 HbVar.206 + HBA2:c.409C>A chr16 163579 163580 HbVar.204 + HBA2:c.410T>C chr16 163579 163580 HbVar.205 + HBA2:c.[..410T>G..] chr16 163584 163585 HbVar.207 + HBA2:c.[..415T>C..] chr16 163585 163586 HbVar.2567 + HBA2:c.416C>T chr16 163587 163588 HbVar.1105 + HBA2:c.418A>G chr16 163587 163590 HbVar.702 + HBA2:c.[..418delA..] chr16 163588 163589 HbVar.208 + HBA2:c.[..419A>C..] chr16 163589 163590 HbVar.1174 + HBA2:c.420A>C chr16 163590 163591 HbVar.210 + HBA2:c.[..421T>C..] chr16 163592 163593 HbVar.719 + HBA2:c.423C>A chr16 163593 163594 HbVar.213 + HBA2:c.[..424C>A..] chr16 163593 163594 HbVar.215 + HBA2:c.[..424C>G..] chr16 163593 163594 HbVar.216 + HBA2:c.[..424C>T..] chr16 163594 163595 HbVar.211 + HBA2:c.[..425G>C..] chr16 163594 163595 HbVar.212 + HBA2:c.[..425G>A..] chr16 163594 163595 HbVar.214 + HBA2:c.[..425G>T..] chr16 163596 163597 HbVar.1138 + HBA2:c.[..427T>C..] chr16 163596 163597 HbVar.703 + HBA2:c.427T>C chr16 163596 163597 HbVar.704 + HBA2:c.427T>A chr16 163596 163597 HbVar.706 + HBA2:c.427T>G chr16 163597 163598 HbVar.705 + HBA2:c.428A>C chr16 163598 163599 HbVar.1138 + HBA2:c.[..429A>T..] chr16 163598 163599 HbVar.707 + HBA2:c.429A>T chr16 163672 163688 HbVar.1073 + HBA2:c.*+74_*+89delCCTTCCTGGTCTTTGA chr16 163690 163691 HbVar.1071 + HBA2:c.*+92A>G chr16 163691 163693 HbVar.1072 + HBA2:c.*+93_*+94delAA chr16 163692 163693 HbVar.1070 + HBA2:c.*+94A>G chr16 163692 163693 HbVar.1192 + HBA2:c.*+94A>C chr16 163705 163706 HbVar.1177 + HBA2:c.*+107A>G chr16 165799 168500 HbVar.1074 + NG_000006.1:g.36664_39364del2701 chr16 166599 170100 HbVar.1075 + NG_000006.1:g.37464_40964del3501 chr16 166699 166700 HbVar.1178 + HBA1:c.-16T>C chr16 166715 166716 HbVar.1063 + HBA1:c.1A>G chr16 166718 166719 HbVar.2641 + HBA1:c.4G>T chr16 166719 166720 HbVar.1 + HBA1:c.[..5T>G..] chr16 166719 166720 HbVar.711 + HBA1:c.[..5T>A..] chr16 166722 166723 HbVar.2 + HBA1:c.[..8T>G..] chr16 166724 166725 HbVar.2635 + HBA1:c.[..10T>C..] chr16 166725 166726 HbVar.1112 + HBA1:c.11C>T chr16 166730 166731 HbVar.4 + HBA1:c.[..16G>C..] chr16 166731 166732 HbVar.3 + HBA1:c.[..17C>A..] chr16 166733 166734 HbVar.2578 + HBA1:c.19G>C chr16 166733 166734 HbVar.6 + HBA1:c.[..19G>A..] chr16 166733 166734 HbVar.8 + HBA1:c.[..19G>T..] chr16 166733 166736 HbVar.715 + HBA1:c.[..19_21delGAC..] chr16 166734 166735 HbVar.5 + HBA1:c.[..20A>C..] chr16 166734 166735 HbVar.7 + HBA1:c.[..20A>T..] chr16 166734 166735 HbVar.9 + HBA1:c.[..20A>G..] chr16 166736 166737 HbVar.11 + HBA1:c.[..22A>G..] chr16 166738 166739 HbVar.10 + HBA1:c.[..24G>C..] chr16 166743 166744 HbVar.1239 + HBA1:c.[..29A>C..] chr16 166743 166744 HbVar.2594 + HBA1:c.29A>G chr16 166744 166745 HbVar.1122 + HBA1:c.30C>G chr16 166748 166749 HbVar.13 + HBA1:c.[..34A>C..] chr16 166748 166751 HbVar.12 + HBA1:p.[..Lys12Glu..] chr16 166750 166751 HbVar.14 + HBA1:c.[..36G>C..] or HBA1:c.[..36G>T..] chr16 166752 166753 HbVar.15 + HBA1:c.[..38C>A..] chr16 166754 166755 HbVar.1240 + HBA1:c.[..40G>C..] chr16 166757 166758 HbVar.16 + HBA1:c.[..43T>A..] or HBA1:c.[..43T>C..] chr16 166758 166759 HbVar.2515 + HBA1:c.44G>A chr16 166760 166761 HbVar.18 + HBA1:c.[..46G>C..] chr16 166761 166762 HbVar.17 + HBA1:c.47G>A chr16 166764 166765 HbVar.21 + HBA1:c.[..50A>T..] chr16 166765 166766 HbVar.20 + HBA1:c.[..51G>C..] or HBA1:c.[..51G>T..] chr16 166769 166770 HbVar.22 + HBA1:c.[..55G>C..] chr16 166770 166771 HbVar.23 + HBA1:c.[..56G>A..] chr16 166772 166775 HbVar.24 + HBA1:p.[..Ala20Asp..] chr16 166773 166774 HbVar.25 + HBA1:c.[..59C>A..] chr16 166775 166776 HbVar.26 + HBA1:c.[..61C>T..] chr16 166776 166777 HbVar.28 + HBA1:c.[..62A>G..] chr16 166776 166777 HbVar.910 + HBA1:c.[..62A>C..] chr16 166778 166779 HbVar.30 + HBA1:c.[..64G>C..] chr16 166779 166780 HbVar.29 + HBA1:c.[..65C>A..] chr16 166782 166783 HbVar.31 + HBA1:c.[..68G>A..] chr16 166784 166785 HbVar.1176 + HBA1:c.70G>T chr16 166784 166785 HbVar.32 + HBA1:c.[..70G>C..] chr16 166784 166785 HbVar.33 + HBA1:c.[..70G>A..] chr16 166785 166786 HbVar.34 + HBA1:c.[..71A>T..] chr16 166785 166786 HbVar.35 + HBA1:c.[..71A>G..] chr16 166786 166787 HbVar.36 + HBA1:c.[..72G>T..] chr16 166787 166788 HbVar.37 + HBA1:c.[..73T>C..] chr16 166788 166789 HbVar.38 + HBA1:c.74A>G chr16 166794 166795 HbVar.39 + HBA1:c.[..80C>A..] chr16 166796 166797 HbVar.43 + HBA1:c.[..82G>A..] chr16 166797 166798 HbVar.1241 + HBA1:c.[..83A>C..] chr16 166797 166798 HbVar.41 + HBA1:c.[..83A>G..] chr16 166797 166798 HbVar.42 + HBA1:c.[..83A>T..] chr16 166802 166803 HbVar.2611 + HBA1:c.88C>G chr16 166805 166806 HbVar.46 + HBA1:c.[..91G>A..] chr16 166805 166806 HbVar.47 + HBA1:c.[..91G>C..] chr16 166806 166807 HbVar.1215 + HBA1:c.92A>T chr16 166806 166807 HbVar.1216 + HBA1:c.92A>C chr16 166814 166815 HbVar.2614 + HBA1:c.95+5G>A chr16 166926 166927 HbVar.1067 + HBA1:c.96-1G>A chr16 166927 166928 HbVar.48 + HBA1:c.[..96G>C..] or HBA1:c.[..96G>T..] chr16 166935 166936 HbVar.49 + HBA1:c.[..104T>G..] chr16 166943 166946 HbVar.905 + HBA1:c.112_114delCCC chr16 166944 166945 HbVar.51 + HBA1:c.[..113C>G..] chr16 166945 166947 HbVar.732 + HBA1:c.[..114_115insGAA..] chr16 166946 166952 HbVar.716 + HBA1:c.115_117delACC chr16 166947 166948 HbVar.1242 + HBA1:c.[..116C>T..] chr16 166952 166953 HbVar.2637 + HBA1:c.[..121A>G..] chr16 166952 166953 HbVar.52 + HBA1:c.[..121A>G..] chr16 166953 166954 HbVar.2582 + HBA1:c.122A>C chr16 166954 166955 HbVar.1117 + HBA1:c.123G>C chr16 166955 166956 HbVar.54 + HBA1:c.[..124A>T..] chr16 166956 166957 HbVar.54 + HBA1:c.[..125C>G..] chr16 166961 166962 HbVar.55 + HBA1:c.[..130T>G..] chr16 166964 166965 HbVar.1139 + HBA1:c.[..133C>G..] chr16 166964 166965 HbVar.1166 + HBA1:c.133C>G chr16 166965 166966 HbVar.57 + HBA1:c.[..134C>T..] chr16 166965 166966 HbVar.58 + HBA1:c.[..134C>G..] chr16 166967 166968 HbVar.61 + HBA1:c.[..136C>G..] chr16 166967 166968 HbVar.63 + HBA1:c.[..136C>T..] chr16 166968 166969 HbVar.59 + HBA1:c.[..137A>G..] chr16 166969 166970 HbVar.60 + HBA1:c.[..138C>G..] chr16 166970 166971 HbVar.2634 + HBA1:c.[..139T>G..] chr16 166970 166971 HbVar.915 + HBA1:c.[..139T>C..] chr16 166973 166974 HbVar.66 + HBA1:c.[..142G>A..] chr16 166974 166975 HbVar.64 + HBA1:c.[..143A>G..] chr16 166974 166975 HbVar.67 + HBA1:c.[..143A>C..] chr16 166977 166978 HbVar.2636 + HBA1:c.[..146T>C..] chr16 166983 166984 HbVar.1243 + HBA1:c.[..152A>T..] chr16 166983 166984 HbVar.72 + HBA1:c.[..152A>G..] chr16 166984 166985 HbVar.73 + HBA1:c.[..153C>A..] or HBA1:c.[..153C>G..] chr16 166985 166986 HbVar.1233 + HBA1:c.154G>A chr16 166985 166986 HbVar.75 + HBA1:c.[..154G>C..] chr16 166985 167012 HbVar.717 + NG_000006.1:g.37850_37876del24 chr16 166986 166987 HbVar.74 + HBA1:c.[..155G>A..] chr16 166986 166999 HbVar.1068 + HBA1:c.155_167delGCTCTGCCCAGGT chr16 166992 166993 HbVar.76 + HBA1:c.[..161C>A..] chr16 166994 166995 HbVar.78 + HBA1:c.[..163C>G..] chr16 166995 166996 HbVar.77 + HBA1:c.[..164A>G..] chr16 166997 166998 HbVar.796 + HBA1:c.166G>C chr16 166998 166999 HbVar.2607 + HBA1:c.167T>C chr16 167000 167001 HbVar.80 + HBA1:c.[..169A>G..] chr16 167001 167002 HbVar.79 + HBA1:c.[..170A>C..] chr16 167001 167002 HbVar.82 + HBA1:c.[..170A>G..] chr16 167002 167003 HbVar.81 + HBA1:c.[..171G>C..] or HBA1:c.[..171G>T..] chr16 167003 167004 HbVar.83 + HBA1:c.[..172G>C..] chr16 167004 167005 HbVar.84 + HBA1:c.[..173G>A..] chr16 167006 167007 HbVar.85 + HBA1:c.[..175C>T..] chr16 167009 167010 HbVar.2581 + HBA1:c.178G>A chr16 167010 167011 HbVar.86 + HBA1:c.[..179G>T..] chr16 167010 167011 HbVar.87 + HBA1:c.[..179G>A..] chr16 167012 167013 HbVar.89 + HBA1:c.[..181A>G..] chr16 167014 167015 HbVar.88 + HBA1:c.[..183G>C..] or HBA1:c.[..183G>T..] chr16 167015 167016 HbVar.92 + HBA1:c.[..184A>G..] chr16 167015 167018 HbVar.936 + HBA1:c.184_186delAAG chr16 167017 167018 HbVar.90 + HBA1:c.[..186G>C..] or HBA1:c.[..186G>T..] chr16 167018 167021 HbVar.906 + HBA1:c.187_189delGTG chr16 167022 167023 HbVar.94 + HBA1:c.[..191C>A..] chr16 167024 167025 HbVar.96 + HBA1:c.[..193G>T..] chr16 167024 167025 HbVar.97 + HBA1:c.193G>C chr16 167025 167026 HbVar.98 + HBA1:c.[..194A>G..] chr16 167028 167029 HbVar.99 + HBA1:c.[..197C>T..] chr16 167036 167037 HbVar.101 + HBA1:c.[..205A>G..] chr16 167036 167037 HbVar.2502 + HBA1:c.205A>C chr16 167038 167039 HbVar.100 + HBA1:c.[..207C>G..] chr16 167038 167040 HbVar.1184 + HBA1:c.207_208insGCGCTGACCAAC chr16 167042 167043 HbVar.2596 + HBA1:c.211G>A chr16 167046 167047 HbVar.102 + HBA1:c.[..215C>A..] chr16 167046 167047 HbVar.103 + HBA1:c.[..215C>T..] chr16 167048 167049 HbVar.106 + HBA1:c.[..217C>T..] chr16 167049 167050 HbVar.104 + HBA1:c.[..218A>G..] chr16 167054 167055 HbVar.107 + HBA1:c.223G>C chr16 167054 167055 HbVar.109 + HBA1:c.[..223G>A..] chr16 167055 167056 HbVar.108 + HBA1:c.[..224A>C..] chr16 167055 167056 HbVar.110 + HBA1:c.224A>G chr16 167057 167058 HbVar.111 + HBA1:c.[..226G>C..] chr16 167057 167058 HbVar.113 + HBA1:c.[..226G>T..] chr16 167057 167058 HbVar.114 + HBA1:c.[..226G>A..] chr16 167058 167059 HbVar.112 + HBA1:c.227A>C chr16 167058 167059 HbVar.115 + HBA1:c.[..227A>G..] chr16 167061 167062 HbVar.116 + HBA1:c.[..230T>A..] chr16 167061 167062 HbVar.117 + HBA1:c.[..230T>C..] chr16 167061 167062 HbVar.1244 + HBA1:c.[..230T>G..] chr16 167064 167065 HbVar.118 + HBA1:c.[..233C>G..] chr16 167066 167067 HbVar.120 + HBA1:c.[..235A>G..] chr16 167066 167067 HbVar.121 + HBA1:c.235A>C chr16 167068 167069 HbVar.119 + HBA1:c.[..237C>G..] chr16 167069 167070 HbVar.122 + HBA1:c.[..238G>A..] chr16 167073 167074 HbVar.123 + HBA1:c.[..242T>G..] chr16 167076 167077 HbVar.125 + HBA1:c.[..245C>G..] chr16 167078 167079 HbVar.2608 + HBA1:c.247G>A chr16 167078 167087 HbVar.2504 + HBA1:c.247_255delGCCCTGAGC chr16 167079 167080 HbVar.126 + HBA1:c.[..248C>A..] chr16 167084 167085 HbVar.128 + HBA1:c.[..253A>C..] chr16 167084 167085 HbVar.924 + HBA1:c.[..253A>G..] chr16 167086 167087 HbVar.128 + HBA1:c.[..255C>A..] or HBA1:c.[..255C>G..] chr16 167087 167088 HbVar.129 + HBA1:c.[..256G>A..] chr16 167087 167088 HbVar.130 + HBA1:c.[..256G>T..] chr16 167087 167088 HbVar.2626 + HBA1:c.256G>C chr16 167091 167092 HbVar.132 + HBA1:c.[..260T>G..] chr16 167092 167094 HbVar.902 + HBA1:c.[..261_262insSerAspLeu..] chr16 167093 167094 HbVar.134 + HBA1:c.[..262C>T..] chr16 167093 167094 HbVar.135 + HBA1:c.[..262C>A..] chr16 167093 167094 HbVar.2613 + HBA1:c.262C>G chr16 167094 167095 HbVar.133 + HBA1:c.[..263A>G..] chr16 167094 167095 HbVar.918 + HBA1:c.[..263A>C..] chr16 167096 167097 HbVar.136 + HBA1:c.[..265G>T..] chr16 167097 167098 HbVar.137 + HBA1:c.[..266C>T..] chr16 167097 167098 HbVar.138 + HBA1:c.[..266C>G..] chr16 167097 167098 HbVar.2639 + HBA1:c.[..266C>A..] chr16 167099 167100 HbVar.140 + HBA1:c.[..268C>T..] chr16 167100 167101 HbVar.1109 + HBA1:c.[..269A>G..] chr16 167100 167101 HbVar.139 + HBA1:c.[..269A>T..] chr16 167100 167101 HbVar.141 + HBA1:c.[..269A>C..] chr16 167101 167102 HbVar.919 + HBA1:c.270C>G chr16 167103 167104 HbVar.1182 + HBA1:c.272A>G chr16 167103 167104 HbVar.143 + HBA1:c.272A>C chr16 167103 167104 HbVar.144 + HBA1:c.[..272A>T..] chr16 167104 167105 HbVar.142 + HBA1:c.[..273G>C..] chr16 167105 167106 HbVar.2585 + HBA1:c.274C>T chr16 167106 167107 HbVar.145 + HBA1:c.[..275T>C..] chr16 167108 167109 HbVar.147 + HBA1:c.[..277C>T..] chr16 167109 167110 HbVar.146 + HBA1:c.[..278G>A..] chr16 167109 167110 HbVar.148 + HBA1:c.[..278G>T..] chr16 167112 167113 HbVar.1205 + HBA1:c.281T>C chr16 167114 167115 HbVar.151 + HBA1:c.[..283G>A..] chr16 167115 167116 HbVar.154 + HBA1:c.284A>G chr16 167115 167116 HbVar.156 + HBA1:c.[..284A>C..] chr16 167116 167117 HbVar.155 + HBA1:c.[..285C>G..] chr16 167117 167118 HbVar.158 + HBA1:c.[..286C>T..] chr16 167117 167118 HbVar.159 + HBA1:c.[..286C>G..] chr16 167117 167118 HbVar.161 + HBA1:c.[..286C>A..] chr16 167118 167119 HbVar.160 + HBA1:c.287C>G chr16 167118 167119 HbVar.920 + HBA1:c.287C>A chr16 167123 167124 HbVar.2640 + HBA1:c.[..292A>T..] chr16 167129 167130 HbVar.164 + HBA1:c.[..298A>G..] chr16 167131 167132 HbVar.1207 + HBA1:c.300G>T chr16 167289 167290 HbVar.1120 + HBA1:c.309C>A chr16 167290 167291 HbVar.896 + HBA1:c.310C>T chr16 167291 167292 HbVar.166 + HBA1:c.[..311A>G..] chr16 167293 167294 HbVar.1224 + HBA1:c.313T>A chr16 167300 167301 HbVar.2638 + HBA1:c.320T>C chr16 167311 167312 HbVar.170 + HBA1:c.[..331G>A..] chr16 167312 167313 HbVar.169 + HBA1:c.[..332C>A..] chr16 167314 167315 HbVar.172 + HBA1:c.[..334G>A..] chr16 167317 167318 HbVar.173 + HBA1:c.[..337C>G..] chr16 167318 167319 HbVar.174 + HBA1:c.[..338A>G..] chr16 167321 167322 HbVar.175 + HBA1:c.[..341T>A..] chr16 167323 167324 HbVar.178 + HBA1:c.[..343C>T..] chr16 167324 167325 HbVar.176 + HBA1:c.[..344C>G..] chr16 167324 167325 HbVar.177 + HBA1:c.[..344C>T..] chr16 167327 167328 HbVar.179 + HBA1:c.[..347C>A..] chr16 167329 167330 HbVar.180 + HBA1:c.349G>A chr16 167329 167330 HbVar.182 + HBA1:c.[..349G>C..] chr16 167330 167331 HbVar.181 + HBA1:c.[..350A>C..] chr16 167331 167333 HbVar.733 + HBA1:c.[..351_352insHisLeuProAlaGlu..] chr16 167334 167336 HbVar.734 + HBA1:c.354_355insIle chr16 167337 167339 HbVar.735 + HBA1:c.[..357_358insGluPheThr..] chr16 167338 167339 HbVar.1123 + HBA1:c.358C>T chr16 167339 167340 HbVar.753 + HBA1:c.359C>T chr16 167342 167343 HbVar.183 + HBA1:c.[..362C>A..] chr16 167344 167345 HbVar.184 + HBA1:c.[..364G>A..] chr16 167347 167348 HbVar.1106 + HBA1:c.367C>T chr16 167350 167351 HbVar.186 + HBA1:c.370G>T chr16 167350 167351 HbVar.2609 + HBA1:c.370G>C chr16 167359 167360 HbVar.188 + HBA1:c.[..379G>A..] chr16 167359 167360 HbVar.189 + HBA1:c.379G>C chr16 167359 167360 HbVar.191 + HBA1:c.[..379G>T..] chr16 167360 167361 HbVar.190 + HBA1:c.[..380A>T..] chr16 167360 167361 HbVar.192 + HBA1:c.[..380A>G..] chr16 167361 167362 HbVar.930 + HBA1:c.381C>G chr16 167363 167364 HbVar.193 + HBA1:c.[..383A>C..] chr16 167364 167365 HbVar.194 + HBA1:c.[..384G>C..] or HBA1:c.[..384G>T..] chr16 167369 167370 HbVar.195 + HBA1:c.389T>C chr16 167372 167373 HbVar.2503 + HBA1:c.392C>T chr16 167374 167375 HbVar.199 + HBA1:c.[..394T>C..] chr16 167375 167376 HbVar.1189 + HBA1:c.395C>T chr16 167376 167377 HbVar.2622 + HBA1:c.396delT chr16 167376 167378 HbVar.1142 + HBA1:c.396_397insT chr16 167378 167379 HbVar.200 + HBA1:c.[..398T>G..] chr16 167380 167383 HbVar.201 + HBA1:p.[..Ser134Arg..] chr16 167381 167382 HbVar.202 + HBA1:c.[..401G>A..] chr16 167384 167385 HbVar.2623 + HBA1:c.404delC chr16 167386 167387 HbVar.2566 + HBA1:c.406G>A chr16 167387 167388 HbVar.203 + HBA1:c.[..407T>A..] chr16 167390 167391 HbVar.205 + HBA1:c.[..410T>G..] chr16 167392 167393 HbVar.2632 + HBA1:c.412A>C chr16 167395 167396 HbVar.207 + HBA1:c.[..415T>C..] chr16 167396 167397 HbVar.2586 + HBA1:c.416C>G chr16 167398 167399 HbVar.209 + HBA1:c.418A>G chr16 167398 167401 HbVar.702 + HBA1:c.[..418delA..] chr16 167399 167400 HbVar.208 + HBA1:c.[..419A>C..] chr16 167401 167402 HbVar.210 + HBA1:c.[..421T>C..] chr16 167404 167405 HbVar.213 + HBA1:c.[..424C>A..] chr16 167404 167405 HbVar.215 + HBA1:c.[..424C>G..] chr16 167404 167405 HbVar.216 + HBA1:c.[..424C>T..] chr16 167405 167406 HbVar.211 + HBA1:c.[..425G>C..] chr16 167405 167406 HbVar.212 + HBA1:c.[..425G>A..] chr16 167405 167406 HbVar.214 + HBA1:c.[..425G>T..] chr7 150109666 150109667 LQTS_NM_000238.2:c.87C>A - NM_000238.2(KCNH2):c.87C>A chr7 150109655 150109656 LQTS_NM_000238.2:c.98A>C - NM_000238.2(KCNH2):c.98A>C chr7 150109621 150109622 LQTS_NM_000238.2:c.132C>A - NM_000238.2(KCNH2):c.132C>A chr7 150109613 150109614 LQTS_NM_000238.2:c.140G>T - NM_000238.2(KCNH2):c.140G>T chr7 150109596 150109597 LQTS_NM_000238.2:c.157G>C - NM_000238.2(KCNH2):c.157G>C chr7 150109586 150109587 LQTS_NM_000238.2:c.167G>A - NM_000238.2(KCNH2):c.167G>A chr7 150109557 150109558 LQTS_NM_000238.2:c.196T>G - NM_000238.2(KCNH2):c.196T>G chr7 150109544 150109545 LQTS_NM_000238.2:c.209A>G - NM_000238.2(KCNH2):c.209A>G chr7 150109538 150109539 LQTS_NM_000238.2:c.215C>A - NM_000238.2(KCNH2):c.215C>A chr7 150109502 150109533 LQTS_NM_000238.2:c.221_251del - NM_000238.2(KCNH2):c.221_251del chr7 150109503 150109520 LQTS_NM_000238.2:c.234_250dup - NM_000238.2(KCNH2):c.234_250dup chr7 150109519 150109522 LQTS_NM_000238.2:p.A78P - NM_000238.2(KCNH2):p.A78P chr7 150109512 150109513 LQTS_NM_000238.2:c.241C>T - NM_000238.2(KCNH2):c.241C>T chr7 150109496 150109497 LQTS_NM_000238.2:c.257T>G - NM_000238.2(KCNH2):c.257T>G chr7 150109493 150109494 LQTS_NM_000238.2:c.260T>C - NM_000238.2(KCNH2):c.260T>C chr7 150109466 150109467 LQTS_NM_000238.2:c.287T>C - NM_000238.2(KCNH2):c.287T>C chr7 150109457 150109458 LQTS_NM_000238.2:c.296A>C - NM_000238.2(KCNH2):c.296A>C chr7 150094388 150094389 LQTS_NM_000238.2:c.391G>A - NM_000238.2(KCNH2):c.391G>A chr7 150094407 150094410 LQTS_NM_000238.2:p.M124R - NM_000238.2(KCNH2):p.M124R chr7 150094326 150094327 LQTS_NM_000238.2:c.453delC - NM_000238.2(KCNH2):c.453delC chr7 150093184 150093185 LQTS_NM_000238.2:c.526C>T - NM_000238.2(KCNH2):c.526C>T chr7 150093110 150093153 LQTS_NM_000238.2:c.558_600dup - NM_000238.2(KCNH2):c.558_600dup chr7 150092220 150092221 LQTS_NM_000238.2:c.934C>T - NM_000238.2(KCNH2):c.934C>T chr7 150092115 150092116 LQTS_NM_000238.2:c.1039C>T - NM_000238.2(KCNH2):c.1039C>T chr7 150092058 150092059 LQTS_NM_000238.2:c.1096C>T - NM_000238.2(KCNH2):c.1096C>T chr7 150092026 150092027 LQTS_NM_000238.2:c.1128G>A - NM_000238.2(KCNH2):c.1128G>A chr7 150087590 150087591 LQTS_NM_000238.2:c.1129-2G>A - NM_000238.2(KCNH2):c.1129-2G>A chr7 150087518 150087519 LQTS_NM_000238.2:c.1199T>A - NM_000238.2(KCNH2):c.1199T>A chr7 150087456 150087457 LQTS_NM_000238.2:c.1261delA - NM_000238.2(KCNH2):c.1261delA chr7 150087434 150087435 LQTS_NM_000238.2:c.1283C>A - NM_000238.2(KCNH2):c.1283C>A chr7 150087433 150087436 LQTS_NM_000238.2:p.S428L - NM_000238.2(KCNH2):p.S428L chr7 150087410 150087411 LQTS_NM_000238.2:c.1307C>T - NM_000238.2(KCNH2):c.1307C>T chr7 150087376 150087377 LQTS_NM_000238.2:c.1341C>A - NM_000238.2(KCNH2):c.1341C>A chr7 150087365 150087366 LQTS_NM_000238.2:c.1352C>T - NM_000238.2(KCNH2):c.1352C>T chr7 150087309 150087310 LQTS_NM_000238.2:c.1408A>G - NM_000238.2(KCNH2):c.1408A>G chr7 150087296 150087297 LQTS_NM_000238.2:c.1421C>T - NM_000238.2(KCNH2):c.1421C>T chr7 150087238 150087239 LQTS_NM_000238.2:c.1479C>G - NM_000238.2(KCNH2):c.1479C>G chr7 150087194 150087222 LQTS_NM_000238.2:c.1496_1523del - NM_000238.2(KCNH2):c.1496_1523del chr7 150087216 150087217 LQTS_NM_000238.2:c.1501G>A - NM_000238.2(KCNH2):c.1501G>A chr7 150086536 150086537 LQTS_NM_000238.2:c.1592G>A - NM_000238.2(KCNH2):c.1592G>A chr7 150086472 150086475 LQTS_NM_000238.2:p.L552S - NM_000238.2(KCNH2):p.L552S chr7 150086528 150086529 LQTS_NM_000238.2:c.1600C>T - NM_000238.2(KCNH2):c.1600C>T chr7 150086473 150086474 LQTS_NM_000238.2:c.1655T>C - NM_000238.2(KCNH2):c.1655T>C chr7 150086456 150086457 LQTS_NM_000238.2:c.1672G>C - NM_000238.2(KCNH2):c.1672G>C chr7 150086447 150086448 LQTS_NM_000238.2:c.1681G>A - NM_000238.2(KCNH2):c.1681G>A chr7 150086446 150086447 LQTS_NM_000238.2:c.1682C>T - NM_000238.2(KCNH2):c.1682C>T chr7 150086437 150086438 LQTS_NM_000238.2:c.1691T>C - NM_000238.2(KCNH2):c.1691T>C chr7 150086423 150086424 LQTS_NM_000238.2:c.1705T>C - NM_000238.2(KCNH2):c.1705T>C chr7 150086414 150086415 LQTS_NM_000238.2:c.1714G>C - NM_000238.2(KCNH2):c.1714G>C chr7 150086414 150086415 LQTS_NM_000238.2:c.1714G>T - NM_000238.2(KCNH2):c.1714G>T chr7 150086378 150086379 LQTS_NM_000238.2:c.1750G>A - NM_000238.2(KCNH2):c.1750G>A chr7 150086373 150086374 LQTS_NM_000238.2:c.1755G>T - NM_000238.2(KCNH2):c.1755G>T chr7 150086366 150086367 LQTS_NM_000238.2:c.1762A>G - NM_000238.2(KCNH2):c.1762A>G chr7 150086350 150086351 LQTS_NM_000238.2:c.1778T>C - NM_000238.2(KCNH2):c.1778T>C chr7 150086350 150086351 LQTS_NM_000238.2:c.1778T>G - NM_000238.2(KCNH2):c.1778T>G chr7 150086349 150086352 LQTS_NM_000238.2:p.I593X - NM_000238.2(KCNH2):p.I593X chr7 150086340 150086343 LQTS_NM_000238.2:p.P596L - NM_000238.2(KCNH2):p.P596L chr7 150086327 150086328 LQTS_NM_000238.2:c.1801G>A - NM_000238.2(KCNH2):c.1801G>A chr7 150086318 150086319 LQTS_NM_000238.2:c.1810G>A - NM_000238.2(KCNH2):c.1810G>A chr7 150086303 150086304 LQTS_NM_000238.2:c.1825G>A - NM_000238.2(KCNH2):c.1825G>A chr7 150086297 150086298 LQTS_NM_000238.2:c.1831T>C - NM_000238.2(KCNH2):c.1831T>C chr7 150086295 150086296 LQTS_NM_000238.2:c.1833T>A/G - NM_000238.2(KCNH2):c.1833T>A/G chr7 150086294 150086295 LQTS_NM_000238.2:c.1834G>T - NM_000238.2(KCNH2):c.1834G>T chr7 150086290 150086291 LQTS_NM_000238.2:c.1838C>T - NM_000238.2(KCNH2):c.1838C>T chr7 150086266 150086267 LQTS_NM_000238.2:c.1862G>A - NM_000238.2(KCNH2):c.1862G>A chr7 150086252 150086253 LQTS_NM_000238.2:c.1876G>A - NM_000238.2(KCNH2):c.1876G>A chr7 150086251 150086252 LQTS_NM_000238.2:c.1877G>T - NM_000238.2(KCNH2):c.1877G>T chr7 150086247 150086248 LQTS_NM_000238.2:c.1881C>G - NM_000238.2(KCNH2):c.1881C>G chr7 150086246 150086247 LQTS_NM_000238.2:c.1882G>A - NM_000238.2(KCNH2):c.1882G>A chr7 150086243 150086244 LQTS_NM_000238.2:c.1885A>G - NM_000238.2(KCNH2):c.1885A>G chr7 150086242 150086243 LQTS_NM_000238.2:c.1886A>G - NM_000238.2(KCNH2):c.1886A>G chr7 150086241 150086244 LQTS_NM_000238.2:p.N629K - NM_000238.2(KCNH2):p.N629K chr7 150086240 150086241 LQTS_NM_000238.2:c.1888G>C - NM_000238.2(KCNH2):c.1888G>C chr7 150086239 150086240 LQTS_NM_000238.2:c.1889T>C - NM_000238.2(KCNH2):c.1889T>C chr7 150086234 150086235 LQTS_NM_000238.2:c.1894C>T - NM_000238.2(KCNH2):c.1894C>T chr7 150086230 150086231 LQTS_NM_000238.2:c.1898A>G - NM_000238.2(KCNH2):c.1898A>G chr7 150086216 150086217 LQTS_NM_000238.2:c.1912A>G - NM_000238.2(KCNH2):c.1912A>G chr7 150086213 150086216 LQTS_NM_000238.2:c.1913_1915del - NM_000238.2(KCNH2):c.1913_1915del chr7 150086208 150086209 LQTS_NM_000238.2:c.1920C>A - NM_000238.2(KCNH2):c.1920C>A chr7 150086195 150086196 LQTS_NM_000238.2:c.1933A>T - NM_000238.2(KCNH2):c.1933A>T chr7 150085849 150085851 LQTS_NM_000238.2:c.1951_1952delAT - NM_000238.2(KCNH2):c.1951_1952delAT chr7 150085800 150085801 LQTS_NM_000238.2:c.2001C>A - NM_000238.2(KCNH2):c.2001C>A chr7 150085757 150085758 LQTS_NM_000238.2:c.2044G>T - NM_000238.2(KCNH2):c.2044G>T chr7 150085709 150085710 LQTS_NM_000238.2:c.2092G>T - NM_000238.2(KCNH2):c.2092G>T chr7 150085128 150085129 LQTS_NM_000238.2:c.2173C>T - NM_000238.2(KCNH2):c.2173C>T chr7 150085047 150085048 LQTS_NM_000238.2:c.2254C>T - NM_000238.2(KCNH2):c.2254C>T chr7 150084951 150084952 LQTS_NM_000238.2:c.2350C>T - NM_000238.2(KCNH2):c.2350C>T chr7 150084925 150084946 LQTS_NM_000238.2:c.2356_2376dup - NM_000238.2(KCNH2):c.2356_2376dup chr7 150084906 150084907 LQTS_NM_000238.2:c.2395delC - NM_000238.2(KCNH2):c.2395delC chr7 150084902 150084903 LQTS_NM_000238.2:c.2398+1G>C - NM_000238.2(KCNH2):c.2398+1G>C chr7 150083769 150083770 LQTS_NM_000238.2:c.2414T>C - NM_000238.2(KCNH2):c.2414T>C chr7 150083769 150083770 LQTS_NM_000238.2:c.2414T>G - NM_000238.2(KCNH2):c.2414T>G chr7 150083730 150083731 LQTS_NM_000238.2:c.2453C>T - NM_000238.2(KCNH2):c.2453C>T chr7 150083719 150083720 LQTS_NM_000238.2:c.2464G>A - NM_000238.2(KCNH2):c.2464G>A chr7 150083716 150083717 LQTS_NM_000238.2:c.2467C>T - NM_000238.2(KCNH2):c.2467C>T chr7 150083601 150083602 LQTS_NM_000238.2:c.2582A>T - NM_000238.2(KCNH2):c.2582A>T chr7 150083590 150083591 LQTS_NM_000238.2:c.2592+1G>A - NM_000238.2(KCNH2):c.2592+1G>A chr7 150083255 150083256 LQTS_NM_000238.2:c.2616delC - NM_000238.2(KCNH2):c.2616delC chr7 150083211 150083212 LQTS_NM_000238.2:c.2660delG - NM_000238.2(KCNH2):c.2660delG chr7 150082556 150082557 LQTS_NM_000238.2:c.2750C>T - NM_000238.2(KCNH2):c.2750C>T chr7 150082542 150082543 LQTS_NM_000238.2:c.2764C>T - NM_000238.2(KCNH2):c.2764C>T chr7 150082400 150082401 LQTS_NM_000238.2:c.2906delG - NM_000238.2(KCNH2):c.2906delG chr7 150082212 150082215 LQTS_NM_000238.2:p.W1001X - NM_000238.2(KCNH2):p.W1001X chr7 150082175 150082176 LQTS_NM_000238.2:c.3040C>T - NM_000238.2(KCNH2):c.3040C>T chr7 150082121 150082122 LQTS_NM_000238.2:c.3094delC - NM_000238.2(KCNH2):c.3094delC chr7 150083181 150083182 LQTS_NM_000238.2:c.2690A>C - NM_000238.2(KCNH2):c.2690A>C chr7 150082074 150082077 LQTS_NM_000238.2:p.R1047L - NM_000238.2(KCNH2):p.R1047L chr7 150087250 150087251 LQTS_NM_000238.2:c.1467C>T - NM_000238.2(KCNH2):c.1467C>T chr7 150087178 150087179 LQTS_NM_000238.2:c.1539C>T - NM_000238.2(KCNH2):c.1539C>T chr7 150086436 150086437 LQTS_NM_000238.2:c.1692A>G - NM_000238.2(KCNH2):c.1692A>G chr7 150085845 150085846 LQTS_NM_000238.2:c.1956T>C - NM_000238.2(KCNH2):c.1956T>C chr7 150082319 150082320 LQTS_NM_000238.2:c.2965+22A>G - NM_000238.2(KCNH2):c.2965+22A>G chr21 34743782 34743783 LQTS_4557686:c.20C>T;226G>A - 4557686(KCNE1):[..c.20C>T..] chr21 34743576 34743577 LQTS_4557686:c.20C>T;226G>A - 4557686(KCNE1):[..c.226G>A..] chr21 34743707 34743708 LQTS_4557686:c.95G>A - 4557686(KCNE1):c.95G>A chr21 34743663 34743664 LQTS_4557686:c.139G>T - 4557686(KCNE1):c.139G>T chr21 34743630 34743631 LQTS_4557686:c.172A>C;176T>C;177G>T - 4557686(KCNE1):[..c.172A>C..] chr21 34743626 34743627 LQTS_4557686:c.172A>C;176T>C;177G>T - 4557686(KCNE1):[..c.176T>C..] chr21 34743625 34743626 LQTS_4557686:c.172A>C;176T>C;177G>T - 4557686(KCNE1):[..c.177G>T..] chr21 34743581 34743582 LQTS_4557686:c.221C>T - 4557686(KCNE1):c.221C>T chr21 34743576 34743577 LQTS_4557686:c.226G>A - 4557686(KCNE1):c.226G>A chr21 34743543 34743544 LQTS_4557686:c.259T>C - 4557686(KCNE1):c.259T>C chr21 34743510 34743511 LQTS_4557686:c.292C>T - 4557686(KCNE1):c.292C>T chr21 34743477 34743478 LQTS_4557686:c.325G>A - 4557686(KCNE1):c.325G>A chr21 34743423 34743424 LQTS_4557686:c.379C>A - 4557686(KCNE1):c.379C>A chr21 34743690 34743691 LQTS_4557686:c.112G>A - 4557686(KCNE1):c.112G>A chr21 34743549 34743550 LQTS_4557686:c.253G>A - 4557686(KCNE1):c.253G>A chr3 38646821 38646822 LQTS_NM_000335.4:c.376A>G - NM_000335.4(SCN5A):c.376A>G chr3 38626270 38626271 LQTS_NM_000335.4:c.892G>A - NM_000335.4(SCN5A):c.892G>A chr3 38623251 38623252 LQTS_NM_000335.4:c.1052G>T - NM_000335.4(SCN5A):c.1052G>T chr3 38620239 38620242 LQTS_NM_000335.4:p.L619F - NM_000335.4(SCN5A):p.L619F chr3 38597664 38597665 LQTS_NM_000335.4:c.2989G>T - NM_000335.4(SCN5A):c.2989G>T chr3 38595910 38595911 LQTS_NM_000335.4:c.3305C>A - NM_000335.4(SCN5A):c.3305C>A chr3 38578984 38578987 LQTS_NM_000335.4:p.E1295K - NM_000335.4(SCN5A):p.E1295K chr17 7518993 7518994 TP53_g.13340C>T - X54156.1(TP53):g.13340C>T chr3 38582924 38582925 LQTS_NM_000335.4:c.3816delG - NM_000335.4(SCN5A):c.3816delG chr3 38572997 38572998 LQTS_NM_000335.4:c.4372T>G - NM_000335.4(SCN5A):c.4372T>G chr3 38573725 38573728 LQTS_NM_000335.4:p.R1432G - NM_000335.4(SCN5A):p.R1432G chr3 38572188 38572189 LQTS_NM_000335.4:c.4501G>C - NM_000335.4(SCN5A):c.4501G>C chr3 38572169 38572179 LQTS_NM_000335.4:c.4511_4520del - NM_000335.4(SCN5A):c.4511_4520del chr3 38572153 38572156 LQTS_NM_000335.4:p.R1512W - NM_000335.4(SCN5A):p.R1512W chr3 38568011 38568014 LQTS_NM_000335.4:c.4850_4852del - NM_000335.4(SCN5A):c.4850_4852del chr3 38567995 38567996 LQTS_NM_000335.4:c.4868T>G - NM_000335.4(SCN5A):c.4868T>G chr3 38567929 38567930 LQTS_NM_000335.4:c.4934T>C - NM_000335.4(SCN5A):c.4934T>C chr3 38567864 38567865 LQTS_NM_000335.4:c.4999A>G - NM_000335.4(SCN5A):c.4999A>G chr3 38567636 38567637 LQTS_NM_000335.4:c.5227A>G - NM_000335.4(SCN5A):c.5227A>G chr3 38567565 38567566 LQTS_NM_000335.4:c.5298C>A - NM_000335.4(SCN5A):c.5298C>A chr3 38567561 38567562 LQTS_NM_000335.4:c.5302G>A - NM_000335.4(SCN5A):c.5302G>A chr3 38567534 38567535 LQTS_NM_000335.4:c.5329G>A - NM_000335.4(SCN5A):c.5329G>A chr3 38567514 38567515 LQTS_NM_000335.4:c.5349G>A - NM_000335.4(SCN5A):c.5349G>A chr3 38567503 38567504 LQTS_NM_000335.4:c.5360A>G - NM_000335.4(SCN5A):c.5360A>G chr3 38567478 38567481 LQTS_NM_000335.4:p.Y1795C - NM_000335.4(SCN5A):p.Y1795C chr3 38566938 38566941 LQTS_NM_000335.4:p.Y1975H - NM_000335.4(SCN5A):p.Y1975H chr3 38620423 38620424 LQTS_NM_000335.4:c.1673A>G - NM_000335.4(SCN5A):c.1673A>G chr3 38572189 38572190 LQTS_NM_000335.4:c.4500G>T - NM_000335.4(SCN5A):c.4500G>T chr3 38623286 38623287 LQTS_NM_000335.4:c.1017C>T - NM_000335.4(SCN5A):c.1017C>T chr3 38573017 38573018 LQTS_NM_000335.4:c.4299+53T>C - NM_000335.4(SCN5A):c.4299+53T>C chr3 38567409 38567410 LQTS_NM_000335.4:c.5454T>C - NM_000335.4(SCN5A):c.5454T>C chr3 38567406 38567407 LQTS_NM_000335.4:c.5457C>T - NM_000335.4(SCN5A):c.5457C>T chr21 34664671 34664672 LQTS_NM_005136.2:c.25C>G + NM_005136.2(KCNE2):c.25C>G chr21 34664807 34664808 LQTS_NM_005136.2:c.161T>C + NM_005136.2(KCNE2):c.161T>C chr21 34664839 34664840 LQTS_NM_005136.2:c.193G>A + NM_005136.2(KCNE2):c.193G>A chr21 34664816 34664817 LQTS_NM_005136.2:c.170T>C + NM_005136.2(KCNE2):c.170T>C chr21 34665066 34665067 LQTS_NM_005136.2:c.420C>T + NM_005136.2(KCNE2):c.420C>T chr21 34664668 34664669 LQTS_NM_005136.2:c.22A>G + NM_005136.2(KCNE2):c.22A>G chr21 34664619 34664620 LQTS_NM_005136.2:c.-28A>G + NM_005136.2(KCNE2):c.-28A>G chr11 2423114 2423123 LQTS_AF000571.1:c.211_219del + AF000571.1(KvLQT1):c.211_219del chr11 2423235 2423236 LQTS_AF000571.1:c.332A>G + AF000571.1(KvLQT1):c.332A>G chr11 2423244 2423245 LQTS_AF000571.1:c.341T>C + AF000571.1(KvLQT1):c.341T>C chr11 2505816 2505817 LQTS_AF000571.1:c.470T>G + AF000571.1(KvLQT1):c.470T>G chr11 2548433 2548434 LQTS_AF000571.1:c.478G>A + AF000571.1(KvLQT1):c.478G>A chr11 2548455 2548458 LQTS_AF000571.1:c.500_502del + AF000571.1(KvLQT1):c.500_502del chr11 2548457 2548458 LQTS_AF000571.1:c.502G>C + AF000571.1(KvLQT1):c.502G>C chr11 2548459 2548460 LQTS_AF000571.1:c.504delG + AF000571.1(KvLQT1):c.504delG chr11 2548468 2548469 LQTS_AF000571.1:c.513C>G + AF000571.1(KvLQT1):c.513C>G chr11 2548475 2548476 LQTS_AF000571.1:c.520C>T + AF000571.1(KvLQT1):c.520C>T chr11 2548476 2548477 LQTS_AF000571.1:c.521G>A + AF000571.1(KvLQT1):c.521G>A chr11 2548487 2548488 LQTS_AF000571.1:c.532G>C + AF000571.1(KvLQT1):c.532G>C chr11 2548487 2548488 LQTS_AF000571.1:c.532G>A + AF000571.1(KvLQT1):c.532G>A chr11 2548490 2548491 LQTS_AF000571.1:c.535G>A + AF000571.1(KvLQT1):c.535G>A chr11 2548506 2548507 LQTS_AF000571.1:c.551A>C + AF000571.1(KvLQT1):c.551A>C chr11 2548520 2548521 LQTS_AF000571.1:c.565G>A + AF000571.1(KvLQT1):c.565G>A chr11 2548524 2548525 LQTS_AF000571.1:c.569G>A + AF000571.1(KvLQT1):c.569G>A chr11 2548527 2548532 LQTS_AF000571.1:c.572_576del + AF000571.1(KvLQT1):c.572_576del chr11 2548532 2548535 LQTS_AF000571.1:p.F193L + AF000571.1(KvLQT1):p.F193L chr11 2548535 2548536 LQTS_AF000571.1:c.580G>C + AF000571.1(KvLQT1):c.580G>C chr11 2549199 2549200 LQTS_AF000571.1:c.674C>T + AF000571.1(KvLQT1):c.674C>T chr11 2549858 2549859 LQTS_AF000571.1:c.724G>A + AF000571.1(KvLQT1):c.724G>A chr11 2549861 2549862 LQTS_AF000571.1:c.727C>T + AF000571.1(KvLQT1):c.727C>T chr11 2549862 2549863 LQTS_AF000571.1:c.728G>A + AF000571.1(KvLQT1):c.728G>A chr11 2549876 2549877 LQTS_AF000571.1:c.742T>A + AF000571.1(KvLQT1):c.742T>A chr11 2549885 2549888 LQTS_AF000571.1:p.L251P + AF000571.1(KvLQT1):p.L251P chr11 2549894 2549895 LQTS_AF000571.1:c.760G>A + AF000571.1(KvLQT1):c.760G>A chr11 2549909 2549910 LQTS_AF000571.1:c.775C>T + AF000571.1(KvLQT1):c.775C>T chr11 2550651 2550652 LQTS_AF000571.1:c.781G>A + AF000571.1(KvLQT1):c.781G>A chr11 2550653 2550654 LQTS_AF000571.1:c.783G>C + AF000571.1(KvLQT1):c.783G>C chr11 2550667 2550668 LQTS_AF000571.1:c.797T>A + AF000571.1(KvLQT1):c.797T>A chr11 2550675 2550676 LQTS_AF000571.1:c.805G>A + AF000571.1(KvLQT1):c.805G>A chr11 2550676 2550677 LQTS_AF000571.1:c.806G>A + AF000571.1(KvLQT1):c.806G>A chr11 2550687 2550688 LQTS_AF000571.1:c.817C>T + AF000571.1(KvLQT1):c.817C>T chr11 2550712 2550713 LQTS_AF000571.1:c.842A>G + AF000571.1(KvLQT1):c.842A>G chr11 2550768 2550769 LQTS_AF000571.1:c.898G>A + AF000571.1(KvLQT1):c.898G>A chr11 2550784 2550785 LQTS_AF000571.1:c.914G>C + AF000571.1(KvLQT1):c.914G>C chr11 2550784 2550785 LQTS_AF000571.1:c.914G>A + AF000571.1(KvLQT1):c.914G>A chr11 2550786 2550787 LQTS_AF000571.1:c.916G>A + AF000571.1(KvLQT1):c.916G>A chr11 2550792 2550793 LQTS_AF000571.1:c.921+1G>T + AF000571.1(KvLQT1):c.921+1G>T chr11 2561238 2561239 LQTS_AF000571.1:c.922-2A>C + AF000571.1(KvLQT1):c.922-2A>C chr11 2561239 2561240 LQTS_AF000571.1:c.922-1G>C + AF000571.1(KvLQT1):c.922-1G>C chr11 2561244 2561245 LQTS_AF000571.1:c.926C>G + AF000571.1(KvLQT1):c.926C>G chr11 2561244 2561245 LQTS_AF000571.1:c.926C>T + AF000571.1(KvLQT1):c.926C>T chr11 2561246 2561247 LQTS_AF000571.1:c.928G>A + AF000571.1(KvLQT1):c.928G>A chr11 2561250 2561251 LQTS_AF000571.1:c.932C>T + AF000571.1(KvLQT1):c.932C>T chr11 2561253 2561254 LQTS_AF000571.1:c.935C>T + AF000571.1(KvLQT1):c.935C>T chr11 2561257 2561258 LQTS_AF000571.1:c.939C>G + AF000571.1(KvLQT1):c.939C>G chr11 2561258 2561259 LQTS_AF000571.1:c.940G>A + AF000571.1(KvLQT1):c.940G>A chr11 2561258 2561259 LQTS_AF000571.1:c.940G>T + AF000571.1(KvLQT1):c.940G>T chr11 2561262 2561263 LQTS_AF000571.1:c.944A>C + AF000571.1(KvLQT1):c.944A>C chr11 2561262 2561263 LQTS_AF000571.1:c.944A>G + AF000571.1(KvLQT1):c.944A>G chr11 2561264 2561265 LQTS_AF000571.1:c.946G>C + AF000571.1(KvLQT1):c.946G>C chr11 2561267 2561268 LQTS_AF000571.1:c.949G>A + AF000571.1(KvLQT1):c.949G>A chr11 2561272 2561273 LQTS_AF000571.1:c.954G>C + AF000571.1(KvLQT1):c.954G>C chr11 2561276 2561277 LQTS_AF000571.1:c.958C>G + AF000571.1(KvLQT1):c.958C>G chr11 2561291 2561292 LQTS_AF000571.1:c.973G>A + AF000571.1(KvLQT1):c.973G>A chr11 2561326 2561327 LQTS_AF000571.1:c.1008delC + AF000571.1(KvLQT1):c.1008delC chr11 2561333 2561336 LQTS_AF000571.1:c.1015_1017del + AF000571.1(KvLQT1):c.1015_1017del chr11 2561335 2561338 LQTS_AF000571.1:c.1017_1019del + AF000571.1(KvLQT1):c.1017_1019del chr11 2561340 2561341 LQTS_AF000571.1:c.1022C>A + AF000571.1(KvLQT1):c.1022C>A chr11 2561340 2561341 LQTS_AF000571.1:c.1022C>T + AF000571.1(KvLQT1):c.1022C>T chr11 2561342 2561343 LQTS_AF000571.1:c.1024C>T + AF000571.1(KvLQT1):c.1024C>T chr11 2561350 2561351 LQTS_AF000571.1:c.1032G>A + AF000571.1(KvLQT1):c.1032G>A chr11 2561350 2561351 LQTS_AF000571.1:c.1032G>T + AF000571.1(KvLQT1):c.1032G>T chr11 2561350 2561351 LQTS_AF000571.1:c.1032G>C + AF000571.1(KvLQT1):c.1032G>C chr11 2563017 2563018 LQTS_AF000571.1:c.1033G>C + AF000571.1(KvLQT1):c.1033G>C chr11 2563017 2563018 LQTS_AF000571.1:c.1033G>A + AF000571.1(KvLQT1):c.1033G>A chr11 2563030 2563031 LQTS_AF000571.1:c.1046C>G + AF000571.1(KvLQT1):c.1046C>G chr11 2563042 2563043 LQTS_AF000571.1:c.1058T>C + AF000571.1(KvLQT1):c.1058T>C chr11 2563050 2563051 LQTS_AF000571.1:c.1066C>T + AF000571.1(KvLQT1):c.1066C>T chr11 2563054 2563055 LQTS_AF000571.1:c.1070A>G + AF000571.1(KvLQT1):c.1070A>G chr11 2563080 2563081 LQTS_AF000571.1:c.1096C>T + AF000571.1(KvLQT1):c.1096C>T chr11 2563081 2563082 LQTS_AF000571.1:c.1097G>A + AF000571.1(KvLQT1):c.1097G>A chr11 2563081 2563082 LQTS_AF000571.1:c.1097G>C + AF000571.1(KvLQT1):c.1097G>C chr11 2563095 2563096 LQTS_AF000571.1:c.1111G>A + AF000571.1(KvLQT1):c.1111G>A chr11 2563101 2563102 LQTS_AF000571.1:c.1117T>C + AF000571.1(KvLQT1):c.1117T>C chr11 2565418 2565419 LQTS_AF000571.1:c.1172C>T + AF000571.1(KvLQT1):c.1172C>T chr11 2565420 2565421 LQTS_AF000571.1:c.1174T>C + AF000571.1(KvLQT1):c.1174T>C chr11 2565434 2565435 LQTS_AF000571.1:c.1188delC + AF000571.1(KvLQT1):c.1188delC chr11 2549894 2549895 LQTS_AF000571.1:c.760G>A;1249G>A + AF000571.1(KvLQT1):[..c.760G>A..] chr11 2565495 2565496 LQTS_AF000571.1:c.760G>A;1249G>A + AF000571.1(KvLQT1):[..c.1249G>A..] chr11 2566609 2566610 LQTS_AF000571.1:c.1343delC + AF000571.1(KvLQT1):c.1343delC chr11 2746686 2746687 LQTS_AF000571.1:c.1552C>T + AF000571.1(KvLQT1):c.1552C>T chr11 2746707 2746708 LQTS_AF000571.1:c.1573G>A + AF000571.1(KvLQT1):c.1573G>A chr11 2746722 2746723 LQTS_AF000571.1:c.1588C>T + AF000571.1(KvLQT1):c.1588C>T chr11 2753771 2753772 LQTS_AF000571.1:c.1597C>T + AF000571.1(KvLQT1):c.1597C>T chr11 2753789 2753790 LQTS_AF000571.1:c.1615C>T + AF000571.1(KvLQT1):c.1615C>T chr11 2753837 2753838 LQTS_AF000571.1:c.1663C>T + AF000571.1(KvLQT1):c.1663C>T chr11 2754802 2754803 LQTS_AF000571.1:c.1697C>T + AF000571.1(KvLQT1):c.1697C>T chr11 2754808 2754809 LQTS_AF000571.1:c.1703G>C + AF000571.1(KvLQT1):c.1703G>C chr11 2755795 2755796 LQTS_AF000571.1:c.1747C>T + AF000571.1(KvLQT1):c.1747C>T chr11 2755808 2755809 LQTS_AF000571.1:c.1760C>T + AF000571.1(KvLQT1):c.1760C>T chr11 2755814 2755815 LQTS_AF000571.1:c.1766G>A + AF000571.1(KvLQT1):c.1766G>A chr11 2755820 2755821 LQTS_AF000571.1:c.1772G>A + AF000571.1(KvLQT1):c.1772G>A chr11 2755829 2755830 LQTS_AF000571.1:c.1781G>A + AF000571.1(KvLQT1):c.1781G>A chr11 2825704 2825705 LQTS_AF000571.1:c.1927G>A + AF000571.1(KvLQT1):c.1927G>A chr11 2505781 2505782 LQTS_AF000571.1:c.435C>T + AF000571.1(KvLQT1):c.435C>T chr11 2563094 2563095 LQTS_AF000571.1:c.1110G>A + AF000571.1(KvLQT1):c.1110G>A chr11 2639754 2639755 LQTS_AF000571.1:c.1394-12C>T + AF000571.1(KvLQT1):c.1394-12C>T chr11 2753812 2753813 LQTS_AF000571.1:c.1638G>A + AF000571.1(KvLQT1):c.1638G>A chr11 2753882 2753883 LQTS_AF000571.1:c.1685+23G>A + AF000571.1(KvLQT1):c.1685+23G>A chr11 2754880 2754881 LQTS_AF000571.1:c.1732+43T>C + AF000571.1(KvLQT1):c.1732+43T>C chr11 2825763 2825764 LQTS_AF000571.1:c.1986C>T + AF000571.1(KvLQT1):c.1986C>T chr12 101813374 101813375 PAH_c.1A>G - U49897.1(PAH):c.1A>G chr12 101813372 101813373 PAH_c.3G>A - U49897.1(PAH):c.3G>A chr12 101809035 101813375 PAH_c.1-?_168+?del - U49897.1(PAH):c.1-?_168+?del chr12 101813310 101813311 PAH_c.60+5G>T - U49897.1(PAH):c.60+5G>T chr12 101809086 101809087 PAH_c.117C>G - U49897.1(PAH):c.117C>G chr12 101809086 101809089 PAH_c.115_117delTTC - U49897.1(PAH):c.115_117delTTC chr12 101809060 101809061 PAH_c.143T>C - U49897.1(PAH):c.143T>C chr12 101809038 101809039 PAH_c.165delT - U49897.1(PAH):c.165delT chr12 101809082 101809083 PAH_c.121C>T - U49897.1(PAH):c.121C>T chr12 101809067 101809068 PAH_c.136G>A - U49897.1(PAH):c.136G>A chr12 101809035 101809036 PAH_c.168G>T - U49897.1(PAH):c.168G>T chr12 101791144 101791145 PAH_[c.187A>C;c.190C>A] - U49897.1(PAH):c.[..c.187A>C..] chr12 101791141 101791142 PAH_[c.187A>C;c.190C>A] - U49897.1(PAH):c.[..c.190C>A..] chr12 101809035 101809036 PAH_[c.168G>A;c.168+1G>A] - U49897.1(PAH):c.[..c.168G>A..] chr12 101809034 101809035 PAH_[c.168G>A;c.168+1G>A] - U49897.1(PAH):c.[..c.168+1G>A..] chr12 101809030 101809031 PAH_c.168+5G>T - U49897.1(PAH):c.168+5G>T chr12 101809016 101809017 PAH_c.168+19T>C - U49897.1(PAH):c.168+19T>C chr12 101791137 101791138 PAH_c.194T>C - U49897.1(PAH):c.194T>C chr12 101791132 101791133 PAH_c.199T>C - U49897.1(PAH):c.199T>C chr12 101791127 101791128 PAH_c.204A>T - U49897.1(PAH):c.204A>T chr12 101791081 101791082 PAH_c.250G>T - U49897.1(PAH):c.250G>T chr12 101791056 101791057 PAH_c.275C>T - U49897.1(PAH):c.275C>T chr12 101791046 101791049 PAH_c.283_285delATC - U49897.1(PAH):c.283_285delATC chr12 101791020 101791021 PAH_c.311C>A - U49897.1(PAH):c.311C>A chr12 101791000 101791001 PAH_c.331C>T - U49897.1(PAH):c.331C>T chr12 101790979 101791163 PAH_c.169-?_352+?del - U49897.1(PAH):c.169-?_352+?del chr12 101773776 101773777 PAH_c.371C>T - U49897.1(PAH):c.371C>T chr12 101773719 101773720 PAH_c.428A>G - U49897.1(PAH):c.428A>G chr12 101762908 101762909 PAH_c.442-1G>A - U49897.1(PAH):c.442-1G>A chr12 101762912 101762913 PAH_c.442-5C>G - U49897.1(PAH):c.442-5C>G chr12 101762907 101762908 PAH_c.442G>A - U49897.1(PAH):c.442G>A chr12 101762876 101762877 PAH_c.473G>A - U49897.1(PAH):c.473G>A chr12 101762877 101762878 PAH_c.472C>T - U49897.1(PAH):c.472C>T chr12 101762867 101762868 PAH_c.482T>C - U49897.1(PAH):c.482T>C chr12 101762840 101762841 PAH_c.509A>G - U49897.1(PAH):c.509A>G chr12 101762839 101762840 PAH_c.509+1delG - U49897.1(PAH):c.509+1delG chr12 101751569 101751570 PAH_c.517C>A - U49897.1(PAH):c.517C>A chr12 101751565 101751566 PAH_c.521T>C - U49897.1(PAH):c.521T>C chr12 101751560 101751561 PAH_c.526C>T - U49897.1(PAH):c.526C>T chr12 101751525 101751526 PAH_c.561G>A - U49897.1(PAH):c.561G>A chr12 101751517 101751518 PAH_c.569T>C - U49897.1(PAH):c.569T>C chr12 101751472 101751494 PAH_c.593_614del22 - U49897.1(PAH):c.593_614del22 chr12 101751475 101751476 PAH_c.611A>G - U49897.1(PAH):c.611A>G chr12 101751474 101751475 PAH_c.612T>G - U49897.1(PAH):c.612T>G chr12 101751454 101751455 PAH_c.632delC - U49897.1(PAH):c.632delC chr12 101751455 101751456 PAH_c.631C>A - U49897.1(PAH):c.631C>A chr12 101751433 101751434 PAH_c.653G>T - U49897.1(PAH):c.653G>T chr12 101751424 101751425 PAH_c.662A>G - U49897.1(PAH):c.662A>G chr12 101751422 101751424 PAH_c.663_664delAG - U49897.1(PAH):c.663_664delAG chr12 101751414 101751415 PAH_c.672T>G - U49897.1(PAH):c.672T>G chr12 101751390 101751391 PAH_c.696A>G - U49897.1(PAH):c.696A>G chr12 101749196 101749197 PAH_c.707-2A>G - U49897.1(PAH):c.707-2A>G chr12 101749189 101749190 PAH_c.712A>C - U49897.1(PAH):c.712A>C chr12 101749179 101749180 PAH_c.722G>A - U49897.1(PAH):c.722G>A chr12 101749180 101749181 PAH_c.721C>T - U49897.1(PAH):c.721C>T chr12 101749177 101749178 PAH_c.724C>T - U49897.1(PAH):c.724C>T chr12 101749173 101749174 PAH_c.728G>A - U49897.1(PAH):c.728G>A chr12 101749174 101749175 PAH_c.727C>T - U49897.1(PAH):c.727C>T chr12 101749170 101749171 PAH_c.731C>T - U49897.1(PAH):c.731C>T chr12 101749166 101749167 PAH_c.735G>A - U49897.1(PAH):c.735G>A chr12 101749167 101749168 PAH_c.734T>A - U49897.1(PAH):c.734T>A chr12 101749161 101749162 PAH_c.740G>T - U49897.1(PAH):c.740G>T chr12 101749156 101749157 PAH_c.745C>T - U49897.1(PAH):c.745C>T chr12 101749147 101749148 PAH_c.754C>T - U49897.1(PAH):c.754C>T chr12 101749147 101749148 PAH_c.754C>G - U49897.1(PAH):c.754C>G chr12 101749137 101749138 PAH_c.764T>C - U49897.1(PAH):c.764T>C chr12 101749138 101749139 PAH_c.763T>G - U49897.1(PAH):c.763T>G chr12 101749125 101749126 PAH_c.776C>T - U49897.1(PAH):c.776C>T chr12 101749126 101749127 PAH_c.775G>A - U49897.1(PAH):c.775G>A chr12 101749119 101749120 PAH_c.782G>A - U49897.1(PAH):c.782G>A chr12 101749120 101749121 PAH_c.781C>T - U49897.1(PAH):c.781C>T chr12 101749110 101749111 PAH_c.791A>T - U49897.1(PAH):c.791A>T chr12 101749092 101749093 PAH_c.809G>A - U49897.1(PAH):c.809G>A chr12 101749091 101749092 PAH_c.810A>T - U49897.1(PAH):c.810A>T chr12 101749087 101749088 PAH_c.814G>T - U49897.1(PAH):c.814G>T chr12 101749083 101749084 PAH_c.818C>T - U49897.1(PAH):c.818C>T chr12 101749073 101749074 PAH_c.828G>T - U49897.1(PAH):c.828G>T chr12 101749072 101749073 PAH_c.829T>G - U49897.1(PAH):c.829T>G chr12 101749069 101749080 PAH_c.822_832del11 - U49897.1(PAH):c.822_832del11 chr12 101749068 101749069 PAH_c.833C>A - U49897.1(PAH):c.833C>A chr12 101749063 101749064 PAH_c.838G>A - U49897.1(PAH):c.838G>A chr12 101749059 101749060 PAH_c.842C>T - U49897.1(PAH):c.842C>T chr12 101749058 101749059 PAH_c.842+1G>A - U49897.1(PAH):c.842+1G>A chr12 101749057 101749058 PAH_c.842+2T>A - U49897.1(PAH):c.842+2T>A chr12 101747999 101748000 PAH_c.844G>A - U49897.1(PAH):c.844G>A chr12 101747947 101747948 PAH_c.896T>G - U49897.1(PAH):c.896T>G chr12 101747945 101747946 PAH_c.898G>T - U49897.1(PAH):c.898G>T chr12 101747931 101747932 PAH_c.912G>A - U49897.1(PAH):c.912G>A chr12 101747930 101747931 PAH_c.912+1G>A - U49897.1(PAH):c.912+1G>A chr12 101743192 101743193 PAH_c.916A>G - U49897.1(PAH):c.916A>G chr12 101743182 101743183 PAH_c.926C>T - U49897.1(PAH):c.926C>T chr12 101743176 101743177 PAH_c.932T>C - U49897.1(PAH):c.932T>C chr12 101743144 101743145 PAH_c.964G>A - U49897.1(PAH):c.964G>A chr12 101743143 101743144 PAH_c.965C>G - U49897.1(PAH):c.965C>G chr12 101740668 101740669 PAH_c.977G>A - U49897.1(PAH):c.977G>A chr12 101740648 101740649 PAH_c.997C>T - U49897.1(PAH):c.997C>T chr12 101740639 101740640 PAH_c.1006C>T - U49897.1(PAH):c.1006C>T chr12 101740621 101740622 PAH_c.1024G>A - U49897.1(PAH):c.1024G>A chr12 101740617 101740618 PAH_c.1028A>G - U49897.1(PAH):c.1028A>G chr12 101740612 101740613 PAH_c.1033G>A - U49897.1(PAH):c.1033G>A chr12 101740607 101740608 PAH_c.1038delG - U49897.1(PAH):c.1038delG chr12 101740603 101740604 PAH_c.1042C>G - U49897.1(PAH):c.1042C>G chr12 101740600 101740601 PAH_c.1045T>C - U49897.1(PAH):c.1045T>C chr12 101740590 101740591 PAH_c.1055delG - U49897.1(PAH):c.1055delG chr12 101740034 101740035 PAH_c.1066-11G>A - U49897.1(PAH):c.1066-11G>A chr12 101740021 101740022 PAH_c.1068C>A - U49897.1(PAH):c.1068C>A chr12 101740021 101740022 PAH_c.1068C>G - U49897.1(PAH):c.1068C>G chr12 101740013 101740014 PAH_c.1076C>G - U49897.1(PAH):c.1076C>G chr12 101739997 101740000 PAH_c.1090_1092delCTT - U49897.1(PAH):c.1090_1092delCTT chr12 101739985 101740000 PAH_c.1090_1104del15 - U49897.1(PAH):c.1090_1104del15 chr12 101739992 101739993 PAH_c.1097C>A - U49897.1(PAH):c.1097C>A chr12 101739971 101739973 PAH_c.1117_1118delGC - U49897.1(PAH):c.1117_1118delGC chr12 101739950 101739951 PAH_c.1139C>T - U49897.1(PAH):c.1139C>T chr12 101739934 101739935 PAH_c.1155G>C - U49897.1(PAH):c.1155G>C chr12 101739927 101739928 PAH_c.1162G>A - U49897.1(PAH):c.1162G>A chr12 101739920 101739921 PAH_c.1169A>G - U49897.1(PAH):c.1169A>G chr12 101739908 101739909 PAH_c.1181A>C - U49897.1(PAH):c.1181A>C chr12 101739906 101739907 PAH_c.1183G>C - U49897.1(PAH):c.1183G>C chr12 101739892 101739893 PAH_c.1197A>T - U49897.1(PAH):c.1197A>T chr12 101736751 101736752 PAH_c.1208C>T - U49897.1(PAH):c.1208C>T chr12 101736739 101736740 PAH_c.1220delC - U49897.1(PAH):c.1220delC chr12 101736737 101736738 PAH_c.1222C>T - U49897.1(PAH):c.1222C>T chr12 101736736 101736737 PAH_c.1223G>A - U49897.1(PAH):c.1223G>A chr12 101736721 101736722 PAH_c.1238G>C - U49897.1(PAH):c.1238G>C chr12 101736718 101736719 PAH_c.1241A>G - U49897.1(PAH):c.1241A>G chr12 101736716 101736717 PAH_c.1243G>A - U49897.1(PAH):c.1243G>A chr12 101736707 101736708 PAH_c.1252A>C - U49897.1(PAH):c.1252A>C chr12 101736643 101736644 PAH_c.1315+1G>A - U49897.1(PAH):c.1315+1G>A chr12 101735438 101735439 PAH_c.1340C>A - U49897.1(PAH):c.1340C>A chr12 101813317 101813318 PAH_c.58C>T - U49897.1(PAH):c.58C>T chr12 101809084 101809085 PAH_c.119C>T - U49897.1(PAH):c.119C>T chr12 101773788 101773789 PAH_c.359G>A - U49897.1(PAH):c.359G>A chr12 101762889 101762890 PAH_c.460T>A - U49897.1(PAH):c.460T>A chr12 101751572 101751573 PAH_c.514C>T - U49897.1(PAH):c.514C>T chr12 101751448 101751449 PAH_c.638T>C - U49897.1(PAH):c.638T>C chr12 101751413 101751414 PAH_c.673C>A - U49897.1(PAH):c.673C>A chr12 101749146 101749147 PAH_c.755G>A - U49897.1(PAH):c.755G>A chr12 101749132 101749133 PAH_c.769G>T - U49897.1(PAH):c.769G>T chr12 101749119 101749120 PAH_c.782G>C - U49897.1(PAH):c.782G>C chr12 101747953 101747954 PAH_c.890G>A - U49897.1(PAH):c.890G>A chr12 101743167 101743168 PAH_c.941C>A - U49897.1(PAH):c.941C>A chr12 101739932 101739933 PAH_c.1157A>G - U49897.1(PAH):c.1157A>G chr12 101739927 101739928 PAH_c.1162G>C - U49897.1(PAH):c.1162G>C chr12 101739909 101739910 PAH_c.1180G>C - U49897.1(PAH):c.1180G>C chr12 101739905 101739906 PAH_c.1184C>G - U49897.1(PAH):c.1184C>G chr12 101739891 101739892 PAH_c.1198delA - U49897.1(PAH):c.1198delA chr12 101740000 101740001 PAH_c.1089delG - U49897.1(PAH):c.1089delG chr12 101739960 101739961 PAH_c.1129delT - U49897.1(PAH):c.1129delT chr12 101809029 101809030 PAH_c.168+6T>G - U49897.1(PAH):c.168+6T>G chr12 101762839 101762840 PAH_c.509+1G>A - U49897.1(PAH):c.509+1G>A chr12 101749054 101749055 PAH_c.842+5G>A - U49897.1(PAH):c.842+5G>A chr12 101740579 101740580 PAH_c.1065+1G>A - U49897.1(PAH):c.1065+1G>A chr12 101739889 101739890 PAH_c.1199+1G>A - U49897.1(PAH):c.1199+1G>A chr12 101736717 101736718 PAH_c.1242C>T - U49897.1(PAH):c.1242C>T chr12 101751505 101751506 PAH_c.581T>C - U49897.1(PAH):c.581T>C chr12 101749167 101749168 PAH_c.734T>C - U49897.1(PAH):c.734T>C chr12 101749075 101749076 PAH_c.826A>G - U49897.1(PAH):c.826A>G chr12 101743182 101743183 PAH_c.926C>A - U49897.1(PAH):c.926C>A chr12 101740633 101740634 PAH_c.1012G>T - U49897.1(PAH):c.1012G>T chr12 101809063 101809064 PAH_c.140C>T - U49897.1(PAH):c.140C>T chr12 101791070 101791071 PAH_c.261C>A - U49897.1(PAH):c.261C>A chr12 101751559 101751560 PAH_c.527G>T - U49897.1(PAH):c.527G>T chr12 101751553 101751554 PAH_c.533A>G - U49897.1(PAH):c.533A>G chr12 101751398 101751399 PAH_c.688G>A - U49897.1(PAH):c.688G>A chr12 101740577 101740578 PAH_c.1065+3A>G - U49897.1(PAH):c.1065+3A>G chr12 101740623 101740624 PAH_c.1022A>G - U49897.1(PAH):c.1022A>G chr12 101740606 101740607 PAH_c.1039C>T - U49897.1(PAH):c.1039C>T chr12 101740026 101740027 PAH_c.1066-3C>T - U49897.1(PAH):c.1066-3C>T chr12 101751395 101751396 PAH_c.691T>C - U49897.1(PAH):c.691T>C chr12 101749095 101749096 PAH_c.806delT - U49897.1(PAH):c.806delT chr12 101749071 101749072 PAH_c.830A>G - U49897.1(PAH):c.830A>G chr12 101749069 101749070 PAH_c.832A>G - U49897.1(PAH):c.832A>G chr12 101740597 101740599 PAH_c.1047_1048insGTCA - U49897.1(PAH):c.1047_1048insGTCA chr12 101751437 101751438 PAH_c.649T>G - U49897.1(PAH):c.649T>G chr12 101749158 101749159 PAH_c.743T>G - U49897.1(PAH):c.743T>G chr12 101739975 101739976 PAH_c.1114A>T - U49897.1(PAH):c.1114A>T chr12 101749090 101749091 PAH_c.811C>T - U49897.1(PAH):c.811C>T chr12 101743202 101743203 PAH_c.913-7A>G - U49897.1(PAH):c.913-7A>G chr12 101743179 101743180 PAH_c.929C>T - U49897.1(PAH):c.929C>T chr12 101739959 101739960 PAH_c.1130A>G - U49897.1(PAH):c.1130A>G chr12 101773705 101773706 PAH_c.441+1G>A - U49897.1(PAH):c.441+1G>A chr12 101813445 101813446 PAH_c.-71A>C - U49897.1(PAH):c.-71A>C chr12 101791038 101791039 PAH_c.293T>C - U49897.1(PAH):c.293T>C chr12 101747996 101747997 PAH_c.847A>T - U49897.1(PAH):c.847A>T chr12 101809030 101809031 PAH_c.168+5G>C - U49897.1(PAH):c.168+5G>C chr12 101751470 101751471 PAH_c.616T>G - U49897.1(PAH):c.616T>G chr12 101809066 101809067 PAH_c.137delG - U49897.1(PAH):c.137delG chr12 101762786 101762787 PAH_c.509+54C>G - U49897.1(PAH):c.509+54C>G chr12 101791104 101791105 PAH_c.227A>C - U49897.1(PAH):c.227A>C chr12 101749179 101749180 PAH_c.722G>T - U49897.1(PAH):c.722G>T chr12 101747932 101747933 PAH_c.911A>G - U49897.1(PAH):c.911A>G chr12 101740644 101740645 PAH_c.1001G>C - U49897.1(PAH):c.1001G>C chr12 101739891 101739892 PAH_c.1198A>C - U49897.1(PAH):c.1198A>C chr12 101762835 101762836 PAH_c.509+5delG - U49897.1(PAH):c.509+5delG chr12 101773736 101773737 PAH_c.411C>T - U49897.1(PAH):c.411C>T chr12 101813598 101813599 PAH_c.-224G>A - U49897.1(PAH):c.-224G>A chr12 101813521 101813522 PAH_c.-147C>T - U49897.1(PAH):c.-147C>T chr12 101749112 101749113 PAH_c.789C>G - U49897.1(PAH):c.789C>G chr12 101740681 101740682 PAH_c.970-6T>G - U49897.1(PAH):c.970-6T>G chr12 101762858 101762859 PAH_c.491T>C - U49897.1(PAH):c.491T>C chr12 101751574 101751575 PAH_c.512G>C - U49897.1(PAH):c.512G>C chr12 101749186 101749187 PAH_c.715G>A - U49897.1(PAH):c.715G>A chr12 101740654 101740655 PAH_c.991T>C - U49897.1(PAH):c.991T>C chr12 101751484 101751485 PAH_c.602A>G - U49897.1(PAH):c.602A>G chr12 101762898 101762899 PAH_c.451G>C - U49897.1(PAH):c.451G>C chr12 101809038 101809039 PAH_c.165T>G - U49897.1(PAH):c.165T>G chr12 101773711 101773712 PAH_c.436C>T - U49897.1(PAH):c.436C>T chr12 101749108 101749109 PAH_c.793T>G - U49897.1(PAH):c.793T>G chr12 101740597 101740598 PAH_c.1048T>A - U49897.1(PAH):c.1048T>A chr12 101740592 101740603 PAH_c.1043_1053del11 - U49897.1(PAH):c.1043_1053del11 chr12 101736722 101736723 PAH_c.1237C>A - U49897.1(PAH):c.1237C>A chr12 101762870 101762871 PAH_c.479A>C - U49897.1(PAH):c.479A>C chr12 101739930 101739931 PAH_c.1159T>C - U49897.1(PAH):c.1159T>C chr12 101751557 101751558 PAH_c.529G>C - U49897.1(PAH):c.529G>C chr12 101747954 101747955 PAH_c.889C>T - U49897.1(PAH):c.889C>T chr12 101739890 101739894 PAH_c.1196_1199delTAAG - U49897.1(PAH):c.1196_1199delTAAG chr12 101773800 101773801 PAH_c.353-6T>A - U49897.1(PAH):c.353-6T>A chr12 101773816 101773817 PAH_c.353-22C>T - U49897.1(PAH):c.353-22C>T chr12 101751474 101751497 PAH_c.590_612del23 - U49897.1(PAH):c.590_612del23 chr12 101809034 101809035 PAH_c.168+1G>A - U49897.1(PAH):c.168+1G>A chr12 101751563 101751564 PAH_c.523C>G - U49897.1(PAH):c.523C>G chr12 101773746 101773750 PAH_c.398_401delATCA - U49897.1(PAH):c.398_401delATCA chr12 101773762 101773763 PAH_c.385G>T - U49897.1(PAH):c.385G>T chr12 101743133 101743134 PAH_c.969+6T>A - U49897.1(PAH):c.969+6T>A chr12 101736670 101736671 PAH_c.1289T>C - U49897.1(PAH):c.1289T>C chr12 101740612 101740613 PAH_c.1033G>T - U49897.1(PAH):c.1033G>T chr12 101749168 101749169 PAH_c.733G>C - U49897.1(PAH):c.733G>C chr12 101813329 101813330 PAH_c.46T>C - U49897.1(PAH):c.46T>C chr12 101751451 101751452 PAH_c.635T>C - U49897.1(PAH):c.635T>C chr12 101751559 101751560 PAH_c.527G>C - U49897.1(PAH):c.527G>C chr12 101740022 101740024 PAH_c.1066_1067ins6 - U49897.1(PAH):c.1066_1067ins6 chr12 101740677 101740678 PAH_c.970-2A>C - U49897.1(PAH):c.970-2A>C chr12 101747936 101747937 PAH_c.907T>C - U49897.1(PAH):c.907T>C chr12 101740624 101740625 PAH_c.1021A>T - U49897.1(PAH):c.1021A>T chr12 101751468 101751469 PAH_c.618C>G - U49897.1(PAH):c.618C>G chr12 101791064 101791066 PAH_c.266_267insC - U49897.1(PAH):c.266_267insC chr12 101739989 101739991 PAH_c.1099_1100insC - U49897.1(PAH):c.1099_1100insC chr12 101747944 101747945 PAH_c.899C>T - U49897.1(PAH):c.899C>T chr12 101762849 101762850 PAH_c.500A>T - U49897.1(PAH):c.500A>T chr12 101749164 101749165 PAH_c.737C>A - U49897.1(PAH):c.737C>A chr12 101751412 101751413 PAH_c.674C>G - U49897.1(PAH):c.674C>G chr12 101751485 101751486 PAH_c.601C>T - U49897.1(PAH):c.601C>T chr12 101740623 101740624 PAH_c.1022A>C - U49897.1(PAH):c.1022A>C chr12 101740635 101740636 PAH_c.1010G>T - U49897.1(PAH):c.1010G>T chr12 101751527 101751529 PAH_c.558_559delAT - U49897.1(PAH):c.558_559delAT chr12 101751387 101751388 PAH_c.699C>A - U49897.1(PAH):c.699C>A chr12 101751421 101751422 PAH_c.665A>T - U49897.1(PAH):c.665A>T chr12 101809078 101809079 PAH_c.125A>T - U49897.1(PAH):c.125A>T chr12 101762879 101762880 PAH_[c.470G>A;c.471A>C] - U49897.1(PAH):c.[..c.470G>A..] chr12 101762878 101762879 PAH_[c.470G>A;c.471A>C] - U49897.1(PAH):c.[..c.471A>C..] chr12 101751438 101751439 PAH_c.648C>G - U49897.1(PAH):c.648C>G chr12 101751575 101751576 PAH_c.511G>A - U49897.1(PAH):c.511G>A chr12 101740653 101740654 PAH_c.992T>G - U49897.1(PAH):c.992T>G chr12 101743148 101743149 PAH_c.960G>C - U49897.1(PAH):c.960G>C chr12 101773713 101773714 PAH_c.434A>T - U49897.1(PAH):c.434A>T chr12 101739889 101739890 PAH_c.1199+1G>C - U49897.1(PAH):c.1199+1G>C chr12 101740663 101740664 PAH_c.982A>G - U49897.1(PAH):c.982A>G chr12 101791090 101791091 PAH_c.241A>C - U49897.1(PAH):c.241A>C chr12 101739870 101739871 PAH_c.1199+20G>C - U49897.1(PAH):c.1199+20G>C chr12 101791121 101791124 PAH_c.208_210delTCT - U49897.1(PAH):c.208_210delTCT chr12 101743186 101743187 PAH_c.922C>G - U49897.1(PAH):c.922C>G chr12 101748002 101748003 PAH_c.843-2A>T - U49897.1(PAH):c.843-2A>T chr12 101735467 101735468 PAH_c.1316-5T>C - U49897.1(PAH):c.1316-5T>C chr12 101735497 101735498 PAH_c.1316-35C>T - U49897.1(PAH):c.1316-35C>T chr12 101736642 101736643 PAH_c.1315+2T>C - U49897.1(PAH):c.1315+2T>C chr12 101747936 101747937 PAH_c.907T>G - U49897.1(PAH):c.907T>G chr12 101813345 101813346 PAH_c.30C>G - U49897.1(PAH):c.30C>G chr12 101751523 101751524 PAH_c.563delG - U49897.1(PAH):c.563delG chr12 101751477 101751478 PAH_c.609C>T - U49897.1(PAH):c.609C>T chr12 101736767 101736768 PAH_c.1200-8G>A - U49897.1(PAH):c.1200-8G>A chr12 101749068 101749069 PAH_c.833C>T - U49897.1(PAH):c.833C>T chr12 101813327 101813329 PAH_c.47_48delCT - U49897.1(PAH):c.47_48delCT chr12 101749099 101749100 PAH_c.802T>C - U49897.1(PAH):c.802T>C chr12 101743200 101743201 PAH_c.913-5T>G - U49897.1(PAH):c.913-5T>G chr12 101740617 101740618 PAH_c.1028A>T - U49897.1(PAH):c.1028A>T chr12 101813375 101813376 PAH_c.-1C>T - U49897.1(PAH):c.-1C>T chr12 101751541 101751542 PAH_c.545A>G - U49897.1(PAH):c.545A>G chr12 101747946 101747949 PAH_c.895_897delTTT - U49897.1(PAH):c.895_897delTTT chr12 101743139 101743142 PAH_c.967_969delACA - U49897.1(PAH):c.967_969delACA chr12 101739977 101739978 PAH_c.1112A>G - U49897.1(PAH):c.1112A>G chr12 101809046 101809047 PAH_c.157C>T - U49897.1(PAH):c.157C>T chr12 101809063 101809064 PAH_c.140C>A - U49897.1(PAH):c.140C>A chr12 101749195 101749196 PAH_c.707-1G>A - U49897.1(PAH):c.707-1G>A chr12 101791066 101791067 PAH_c.265C>T - U49897.1(PAH):c.265C>T chr12 101751478 101751479 PAH_c.608G>A - U49897.1(PAH):c.608G>A chr12 101791122 101791125 PAH_c.207_209delTTC - U49897.1(PAH):c.207_209delTTC chr12 101751527 101751528 PAH_c.559T>C - U49897.1(PAH):c.559T>C chr12 101740680 101740681 PAH_c.970-5T>A - U49897.1(PAH):c.970-5T>A chr12 101740681 101740682 PAH_c.970-6T>G;c.969_970ins78 - U49897.1(PAH):c.[..c.970-6T>G..] chr12 101740675 101743140 PAH_c.970-6T>G;c.969_970ins78 - U49897.1(PAH):c.[..c.969_970ins78..] chr12 101736695 101736696 PAH_c.1264G>A - U49897.1(PAH):c.1264G>A chr12 101773782 101773783 PAH_c.365C>A - U49897.1(PAH):c.365C>A chr12 101773761 101773762 PAH_c.386A>G - U49897.1(PAH):c.386A>G chr12 101773708 101773709 PAH_c.439C>T - U49897.1(PAH):c.439C>T chr12 101762897 101762898 PAH_c.452A>G - U49897.1(PAH):c.452A>G chr12 101762856 101762857 PAH_c.493G>A - U49897.1(PAH):c.493G>A chr12 101751478 101751501 PAH_c.586_608del23 - U49897.1(PAH):c.586_608del23 chr12 101749132 101749133 PAH_c.769G>A - U49897.1(PAH):c.769G>A chr12 101740599 101740600 PAH_c.1046C>T - U49897.1(PAH):c.1046C>T chr12 101743168 101743169 PAH_c.940delC - U49897.1(PAH):c.940delC chr12 101736740 101736741 PAH_c.1219C>T - U49897.1(PAH):c.1219C>T chr12 101749131 101749132 PAH_c.770G>A - U49897.1(PAH):c.770G>A chr12 101751582 101751583 PAH_c.510-6T>G - U49897.1(PAH):c.510-6T>G chr12 101740621 101740622 PAH_c.1024G>C - U49897.1(PAH):c.1024G>C chr12 101749185 101749186 PAH_c.716G>C - U49897.1(PAH):c.716G>C chr12 101749087 101749092 PAH_c.810_814del5 - U49897.1(PAH):c.810_814del5 chr12 101791002 101791003 PAH_c.329C>T - U49897.1(PAH):c.329C>T chr12 101809030 101809031 PAH_c.168+5G>A - U49897.1(PAH):c.168+5G>A chr12 101751421 101751422 PAH_c.665A>G - U49897.1(PAH):c.665A>G chr12 101740023 101740024 PAH_c.1066T>C - U49897.1(PAH):c.1066T>C chr12 101773701 101773702 PAH_c.441+5G>T - U49897.1(PAH):c.441+5G>T chr12 101736760 101736761 PAH_c.1200-1G>A - U49897.1(PAH):c.1200-1G>A chr12 101751415 101751416 PAH_c.671T>C - U49897.1(PAH):c.671T>C chr12 101809070 101809073 PAH_c.131_133delAAG - U49897.1(PAH):c.131_133delAAG chr12 101749056 101749057 PAH_c.842+3G>C - U49897.1(PAH):c.842+3G>C chr12 101791099 101791100 PAH_c.232G>A - U49897.1(PAH):c.232G>A chr12 101747979 101747980 PAH_c.864G>C - U49897.1(PAH):c.864G>C chr12 101751530 101751531 PAH_c.556delA - U49897.1(PAH):c.556delA chr12 101736722 101736723 PAH_c.1237C>T - U49897.1(PAH):c.1237C>T chr12 101762856 101762857 PAH_c.493G>C - U49897.1(PAH):c.493G>C chr12 101740005 101740006 PAH_c.1084C>A - U49897.1(PAH):c.1084C>A chr12 101739925 101739927 PAH_c.1163_1164delTG - U49897.1(PAH):c.1163_1164delTG chr12 101809048 101809049 PAH_c.155T>C - U49897.1(PAH):c.155T>C chr12 101809045 101809046 PAH_c.158G>A - U49897.1(PAH):c.158G>A chr12 101791123 101791124 PAH_c.208T>C - U49897.1(PAH):c.208T>C chr12 101791100 101791101 PAH_c.231T>G - U49897.1(PAH):c.231T>G chr12 101740037 101740038 PAH_c.1066-14C>G - U49897.1(PAH):c.1066-14C>G chr12 101749107 101749108 PAH_c.794G>A - U49897.1(PAH):c.794G>A chr12 101751525 101751526 PAH_c.561G>C - U49897.1(PAH):c.561G>C chr12 101751380 101762908 PAH_c.442-?_706+?del - U49897.1(PAH):c.442-?_706+?del chr12 101749183 101749184 PAH_c.718T>G - U49897.1(PAH):c.718T>G chr12 101749155 101749156 PAH_c.746T>A - U49897.1(PAH):c.746T>A chr12 101749141 101749142 PAH_c.760T>A - U49897.1(PAH):c.760T>A chr12 101749131 101749132 PAH_c.770G>T - U49897.1(PAH):c.770G>T chr12 101749158 101749159 PAH_c.743T>C - U49897.1(PAH):c.743T>C chr12 101791175 101791176 PAH_c.169-13T>G - U49897.1(PAH):c.169-13T>G chr12 101791137 101791138 PAH_c.194T>A - U49897.1(PAH):c.194T>A chr12 101809038 101809041 PAH_c.163_165delTTT - U49897.1(PAH):c.163_165delTTT chr12 101751553 101751554 PAH_c.533A>T - U49897.1(PAH):c.533A>T chr12 101736760 101736761 PAH_c.1200-1delG - U49897.1(PAH):c.1200-1delG chr12 101751566 101751567 PAH_c.520A>G - U49897.1(PAH):c.520A>G chr12 101740582 101740583 PAH_c.1063C>T - U49897.1(PAH):c.1063C>T chr12 101791148 101791149 PAH_c.183C>G - U49897.1(PAH):c.183C>G chr12 101791104 101791105 PAH_c.227A>G - U49897.1(PAH):c.227A>G chr12 101751392 101751393 PAH_c.694C>T - U49897.1(PAH):c.694C>T chr12 101740589 101740590 PAH_c.1056delT - U49897.1(PAH):c.1056delT chr12 101736742 101736743 PAH_c.1217T>C - U49897.1(PAH):c.1217T>C chr12 101739885 101739886 PAH_c.1199+5G>T - U49897.1(PAH):c.1199+5G>T chr12 101791156 101791157 PAH_c.175G>T - U49897.1(PAH):c.175G>T chr12 101747990 101747991 PAH_c.853C>T - U49897.1(PAH):c.853C>T chr12 101791050 101791051 PAH_c.281T>G - U49897.1(PAH):c.281T>G chr12 101749164 101749165 PAH_c.737C>T - U49897.1(PAH):c.737C>T chr12 101743139 101743140 PAH_c.969A>G - U49897.1(PAH):c.969A>G chr12 101740615 101740616 PAH_c.1030G>A - U49897.1(PAH):c.1030G>A chr12 101747959 101747960 PAH_c.884C>G - U49897.1(PAH):c.884C>G chr12 101743169 101743180 PAH_c.929_939del11 - U49897.1(PAH):c.929_939del11 chr12 101739895 101739896 PAH_c.1194A>G - U49897.1(PAH):c.1194A>G chr12 101791048 101791049 PAH_c.283A>T - U49897.1(PAH):c.283A>T chr12 101791129 101791130 PAH_c.202A>G - U49897.1(PAH):c.202A>G chr12 101809071 101809074 PAH_c.130_132delGAA - U49897.1(PAH):c.130_132delGAA chr12 101751413 101751414 PAH_c.673C>G - U49897.1(PAH):c.673C>G chr12 101740024 101740025 PAH_c.1066-1G>A - U49897.1(PAH):c.1066-1G>A chr12 101735422 101735424 PAH_c.1355_1356insA - U49897.1(PAH):c.1355_1356insA chr12 101740664 101740665 PAH_c.981T>G - U49897.1(PAH):c.981T>G chr12 101740621 101740622 PAH_c.1024delG - U49897.1(PAH):c.1024delG chr12 101791138 101791139 PAH_c.193A>G - U49897.1(PAH):c.193A>G chr12 101740591 101740592 PAH_c.1054G>C - U49897.1(PAH):c.1054G>C chr12 101749095 101749096 PAH_c.806T>A - U49897.1(PAH):c.806T>A chr12 101740609 101740610 PAH_c.1036G>C - U49897.1(PAH):c.1036G>C chr12 101740577 101740578 PAH_c.1065+3A>C - U49897.1(PAH):c.1065+3A>C chr12 101762851 101762852 PAH_c.498C>A - U49897.1(PAH):c.498C>A chr12 101749185 101749186 PAH_c.716G>T - U49897.1(PAH):c.716G>T chr12 101749078 101749079 PAH_c.823C>T - U49897.1(PAH):c.823C>T chr12 101762847 101762848 PAH_c.502T>C - U49897.1(PAH):c.502T>C chr12 101749096 101749097 PAH_c.805A>C - U49897.1(PAH):c.805A>C chr12 101747995 101747996 PAH_c.848T>A - U49897.1(PAH):c.848T>A chr12 101749168 101749169 PAH_c.733G>A - U49897.1(PAH):c.733G>A chr12 101762859 101762860 PAH_c.490A>G - U49897.1(PAH):c.490A>G chr12 101791119 101791120 PAH_c.212G>A - U49897.1(PAH):c.212G>A chr12 101739957 101739958 PAH_c.1132A>T - U49897.1(PAH):c.1132A>T chr12 101790984 101790988 PAH_c.344_347delAAGA - U49897.1(PAH):c.344_347delAAGA chr12 101743171 101743172 PAH_c.937G>A - U49897.1(PAH):c.937G>A chr12 101813781 101817548 PAH_c.-4173_-407del3767 - U49897.1(PAH):c.-4173_-407del3767 chr12 101762840 101762908 PAH_c.442-?_509+?del - U49897.1(PAH):c.442-?_509+?del chr12 101751410 101751411 PAH_c.676C>T - U49897.1(PAH):c.676C>T chr12 101749063 101749064 PAH_c.838G>C - U49897.1(PAH):c.838G>C chr12 101743168 101743169 PAH_c.940C>T - U49897.1(PAH):c.940C>T chr12 101736710 101736711 PAH_c.1249T>C - U49897.1(PAH):c.1249T>C chr12 101749077 101749078 PAH_c.824C>T - U49897.1(PAH):c.824C>T chr12 101743179 101743180 PAH_c.929C>A - U49897.1(PAH):c.929C>A chr12 101791150 101791151 PAH_c.181A>G - U49897.1(PAH):c.181A>G chr12 101791137 101791138 PAH_c.194T>G - U49897.1(PAH):c.194T>G chr12 101751576 101751577 PAH_c.510T>A - U49897.1(PAH):c.510T>A chr12 101743170 101743171 PAH_c.938C>T - U49897.1(PAH):c.938C>T chr12 101739972 101739973 PAH_c.1117G>A - U49897.1(PAH):c.1117G>A chr12 101751437 101751438 PAH_c.649T>C - U49897.1(PAH):c.649T>C chr12 101740626 101740627 PAH_c.1019T>C - U49897.1(PAH):c.1019T>C chr12 101751466 101751467 PAH_c.620A>G - U49897.1(PAH):c.620A>G chr12 101749074 101749075 PAH_c.827T>A - U49897.1(PAH):c.827T>A chr12 101749074 101749075 PAH_c.827T>G - U49897.1(PAH):c.827T>G chr12 101749061 101749063 PAH_c.839_840insT - U49897.1(PAH):c.839_840insT chr12 101740548 101740549 PAH_c.1065+32T>A - U49897.1(PAH):c.1065+32T>A chr12 101773659 101773660 PAH_c.441+47C>T - U49897.1(PAH):c.441+47C>T chr12 101736755 101736756 PAH_c.1204T>C - U49897.1(PAH):c.1204T>C chr12 101749060 101749061 PAH_c.841C>T - U49897.1(PAH):c.841C>T chr12 101762841 101762842 PAH_c.508C>G - U49897.1(PAH):c.508C>G chr12 101762849 101762850 PAH_c.500A>G - U49897.1(PAH):c.500A>G chr12 101791045 101791048 PAH_c.284_286delTCA - U49897.1(PAH):c.284_286delTCA chr12 101751469 101751470 PAH_c.617A>G - U49897.1(PAH):c.617A>G chr12 101751382 101751383 PAH_c.704A>C - U49897.1(PAH):c.704A>C chr12 101749185 101749186 PAH_c.716G>A - U49897.1(PAH):c.716G>A chr12 101749179 101749180 PAH_c.722delG - U49897.1(PAH):c.722delG chr12 101749162 101749163 PAH_c.739G>A - U49897.1(PAH):c.739G>A chr12 101749162 101749163 PAH_c.739G>C - U49897.1(PAH):c.739G>C chr12 101749062 101749063 PAH_c.839A>G - U49897.1(PAH):c.839A>G chr12 101740638 101740639 PAH_c.1007A>G - U49897.1(PAH):c.1007A>G chr12 101739905 101739906 PAH_c.1184C>A - U49897.1(PAH):c.1184C>A chr12 101739890 101739891 PAH_c.1199G>C - U49897.1(PAH):c.1199G>C chr12 101739888 101739889 PAH_c.1199+2T>C - U49897.1(PAH):c.1199+2T>C chr12 101736658 101736659 PAH_c.1301C>A - U49897.1(PAH):c.1301C>A chr12 101747998 101747999 PAH_c.845A>G - U49897.1(PAH):c.845A>G chr12 101747987 101747988 PAH_c.856G>A - U49897.1(PAH):c.856G>A chr12 101743173 101743174 PAH_c.935G>A - U49897.1(PAH):c.935G>A chr12 101743168 101743169 PAH_c.940C>A - U49897.1(PAH):c.940C>A chr12 101791075 101791091 PAH_c.241_256del16 - U49897.1(PAH):c.241_256del16 chr12 101749105 101749106 PAH_[c.796A>G;c.797C>A] - U49897.1(PAH):c.[..c.796A>G..] chr12 101749104 101749105 PAH_[c.796A>G;c.797C>A] - U49897.1(PAH):c.[..c.797C>A..] chr12 101762846 101762847 PAH_c.503delA - U49897.1(PAH):c.503delA chr12 101751582 101751583 PAH_c.510-6T>A - U49897.1(PAH):c.510-6T>A chr12 101739923 101739924 PAH_c.1166delC - U49897.1(PAH):c.1166delC chr12 101791066 101791068 PAH_c.264_265insC - U49897.1(PAH):c.264_265insC chr12 101739990 101739992 PAH_c.1098_1099insC - U49897.1(PAH):c.1098_1099insC chr12 101751467 101751468 PAH_c.619A>G - U49897.1(PAH):c.619A>G chr12 101740670 101740671 PAH_c.975C>G - U49897.1(PAH):c.975C>G chr12 101743145 101743146 PAH_c.963C>T - U49897.1(PAH):c.963C>T chr12 101736739 101736740 PAH_c.1220C>T - U49897.1(PAH):c.1220C>T chr12 101739989 101739990 PAH_c.1100T>C - U49897.1(PAH):c.1100T>C chr12 101813373 101813374 PAH_c.2T>G - U49897.1(PAH):c.2T>G chr12 101813316 101813317 PAH_c.59A>T - U49897.1(PAH):c.59A>T chr12 101809081 101809082 PAH_c.122T>C - U49897.1(PAH):c.122T>C chr12 101762885 101762886 PAH_c.464G>C - U49897.1(PAH):c.464G>C chr12 101751539 101751540 PAH_c.547G>C - U49897.1(PAH):c.547G>C chr12 101751394 101751395 PAH_c.692C>T - U49897.1(PAH):c.692C>T chr12 101740671 101740672 PAH_c.974A>G - U49897.1(PAH):c.974A>G chr12 101740655 101740656 PAH_c.990G>C - U49897.1(PAH):c.990G>C chr12 101740615 101740616 PAH_c.1030G>C - U49897.1(PAH):c.1030G>C chr12 101740614 101740615 PAH_c.1031G>T - U49897.1(PAH):c.1031G>T chr12 101736730 101736731 PAH_c.1229T>C - U49897.1(PAH):c.1229T>C chr12 101743138 101743139 PAH_c.969+1G>A - U49897.1(PAH):c.969+1G>A chr12 101791160 101791163 PAH_c.169_171delGAG - U49897.1(PAH):c.169_171delGAG chr12 101773702 101773703 PAH_c.441+4A>G - U49897.1(PAH):c.441+4A>G chr12 101751505 101751507 PAH_c.580_581delCT - U49897.1(PAH):c.580_581delCT chr12 101749173 101749174 PAH_c.728G>T - U49897.1(PAH):c.728G>T chr12 101749164 101749165 PAH_c.737delC - U49897.1(PAH):c.737delC chr12 101743165 101743166 PAH_c.943G>T - U49897.1(PAH):c.943G>T chr12 101740650 101740651 PAH_c.995G>A - U49897.1(PAH):c.995G>A chr12 101740001 101740003 PAH_c.1087_1088delAA - U49897.1(PAH):c.1087_1088delAA chr12 101736681 101736682 PAH_c.1278T>C - U49897.1(PAH):c.1278T>C chr12 101749056 101749064 PAH_c.838_842+3del8 - U49897.1(PAH):c.838_842+3del8 chr12 101735417 101735422 PAH_c.1357del5 - U49897.1(PAH):c.1357del5 chr12 101740591 101740592 PAH_c.1054G>T - U49897.1(PAH):c.1054G>T chr12 101751557 101751558 PAH_c.529G>A - U49897.1(PAH):c.529G>A chr12 101791026 101791027 PAH_c.305T>C - U49897.1(PAH):c.305T>C chr12 101736688 101736689 PAH_c.1271T>C - U49897.1(PAH):c.1271T>C chr12 101751363 101751364 PAH_c.706+17G>T - U49897.1(PAH):c.706+17G>T chr12 101751472 101751473 PAH_c.614A>C - U49897.1(PAH):c.614A>C chr12 101749182 101749183 PAH_c.719T>C - U49897.1(PAH):c.719T>C chr12 101749081 101749082 PAH_c.820A>G - U49897.1(PAH):c.820A>G chr12 101743155 101743156 PAH_c.953T>C - U49897.1(PAH):c.953T>C chr12 101736727 101736728 PAH_c.1232C>A - U49897.1(PAH):c.1232C>A chr12 101740020 101740021 PAH_c.1069T>G - U49897.1(PAH):c.1069T>G chr12 101739873 101739874 PAH_c.1199+17G>A - U49897.1(PAH):c.1199+17G>A chr12 101751408 101751409 PAH_c.678G>C - U49897.1(PAH):c.678G>C chr12 101751436 101751437 PAH_c.650G>A - U49897.1(PAH):c.650G>A chr12 101743186 101743187 PAH_c.922C>T - U49897.1(PAH):c.922C>T chr12 101739990 101739991 PAH_c.1099delC - U49897.1(PAH):c.1099delC chr12 101751551 101751552 PAH_c.535T>C - U49897.1(PAH):c.535T>C chr12 101749201 101749202 PAH_c.707-7A>T - U49897.1(PAH):c.707-7A>T chr12 101736710 101736711 PAH_c.1249T>A - U49897.1(PAH):c.1249T>A chr12 101762876 101762877 PAH_c.473G>C - U49897.1(PAH):c.473G>C chr12 101740596 101740597 PAH_c.1049C>A - U49897.1(PAH):c.1049C>A chr12 101791155 101791156 PAH_c.176A>G - U49897.1(PAH):c.176A>G chr12 101751397 101751398 PAH_c.689T>G - U49897.1(PAH):c.689T>G chr12 101749161 101749162 PAH_c.740G>A - U49897.1(PAH):c.740G>A chr12 101740599 101740600 PAH_c.1046C>A - U49897.1(PAH):c.1046C>A chr12 101735419 101813375 PAH_c.1_1359del - U49897.1(PAH):c.1_1359del chr12 101751630 101751631 PAH_c.510-54G>A - U49897.1(PAH):c.510-54G>A chr12 101735477 101735478 PAH_c.1316-15T>C - U49897.1(PAH):c.1316-15T>C chr12 101747974 101747975 PAH_c.869A>G - U49897.1(PAH):c.869A>G chr12 101743134 101743135 PAH_c.969+5G>A - U49897.1(PAH):c.969+5G>A chr12 101740573 101740574 PAH_c.1065+7C>A - U49897.1(PAH):c.1065+7C>A chr12 101809091 101809093 PAH_c.111_112insG - U49897.1(PAH):c.111_112insG chr12 101773703 101773704 PAH_c.441+3G>C - U49897.1(PAH):c.441+3G>C chr12 101762889 101762890 PAH_c.460T>C - U49897.1(PAH):c.460T>C chr12 101762879 101762880 PAH_c.470G>A - U49897.1(PAH):c.470G>A chr12 101762879 101762880 PAH_c.470G>T - U49897.1(PAH):c.470G>T chr12 101751487 101751489 PAH_c.598_599insA - U49897.1(PAH):c.598_599insA chr12 101749100 101749101 PAH_c.801G>C - U49897.1(PAH):c.801G>C chr12 101749102 101749103 PAH_c.799C>G - U49897.1(PAH):c.799C>G chr12 101747939 101747940 PAH_c.904delT - U49897.1(PAH):c.904delT chr12 101740609 101740610 PAH_c.1036G>A - U49897.1(PAH):c.1036G>A chr12 101740600 101740601 PAH_c.1045T>G - U49897.1(PAH):c.1045T>G chr12 101739988 101739989 PAH_c.1101G>A - U49897.1(PAH):c.1101G>A chr12 101739890 101739891 PAH_c.1199G>A - U49897.1(PAH):c.1199G>A chr12 101736640 101736641 PAH_c.1315+4A>G - U49897.1(PAH):c.1315+4A>G chr12 101736638 101736639 PAH_c.1315+6T>A - U49897.1(PAH):c.1315+6T>A chr12 101809042 101809043 PAH_c.161T>C - U49897.1(PAH):c.161T>C chr12 101740618 101740619 PAH_c.1027T>G - U49897.1(PAH):c.1027T>G chr12 101791126 101791127 PAH_c.205C>T - U49897.1(PAH):c.205C>T chr12 101740000 101740001 PAH_c.1089G>T - U49897.1(PAH):c.1089G>T chr12 101751473 101751474 PAH_c.613G>A - U49897.1(PAH):c.613G>A chr12 101762885 101762886 PAH_c.464G>A - U49897.1(PAH):c.464G>A chr12 101749060 101749061 PAH_c.841delCCG - U49897.1(PAH):c.841delCCG chr12 101751559 101751560 PAH_c.527G>A - U49897.1(PAH):c.527G>A chr12 101762843 101762844 PAH_c.506G>A - U49897.1(PAH):c.506G>A chr12 101749077 101749078 PAH_c.824C>G - U49897.1(PAH):c.824C>G chr12 101736730 101736731 PAH_c.1229T>G - U49897.1(PAH):c.1229T>G chr12 101739962 101739963 PAH_c.1127delA - U49897.1(PAH):c.1127delA chr12 101790979 101791163 PAH_c.169_352del184 - U49897.1(PAH):c.169_352del184 chr12 101762840 101762908 PAH_c.442_509del68 - U49897.1(PAH):c.442_509del68 chr12 101762840 101762908 PAH_c.442_509del - U49897.1(PAH):c.442_509del chr12 101740483 101740484 PAH_c.1065+97G>A - U49897.1(PAH):c.1065+97G>A chr4 156023587 156023588 RISN_LRAT:c.505A>T + LRAT:c.505A>T chr4 156023414 156023415 RISN_LRAT:c.332A>G + LRAT:c.332A>G chrX 18434429 18449845 RISN_XLRS:c.(?_1)_(184_?)del - XLRS:c.(?_1)_(184_?)del chrX 18449793 18449845 RISN_XLRS:c.(?_1)_(52_?)del - XLRS:c.(?_1)_(52_?)del chrX 18449844 18449845 RISN_XLRS:c.1A>G - XLRS:c.1A>G chrX 18449843 18449844 RISN_XLRS:c.2T>C - XLRS:c.2T>C chrX 18449791 18449792 RISN_XLRS:c.52+2T>C - XLRS:c.52+2T>C chrX 18449809 18449813 RISN_XLRS:c.33_36delACTT - XLRS:c.33_36delACTT chrX 18449810 18449811 RISN_XLRS:c.35T>A - XLRS:c.35T>A chrX 18449807 18449808 RISN_XLRS:c.38T>C - XLRS:c.38T>C chrX 18449792 18449793 RISN_XLRS:c.52+1G>A - XLRS:c.52+1G>A chrX 18449791 18449793 RISN_XLRS:c.52+1_52+2insT - XLRS:c.52+1_52+2insT chrX 18449788 18449789 RISN_XLRS:c.52+5G>C - XLRS:c.52+5G>C chrX 18449792 18449793 RISN_XLRS:c.52+1G>T - XLRS:c.52+1G>T chrX 18435417 18435442 RISN_XLRS:c.53_77del - XLRS:c.53_77del chrX 18435416 18435442 RISN_XLRS:c.(?_53)_(78_?)del - XLRS:c.(?_53)_(78_?)del chrX 18435426 18435427 RISN_XLRS:c.68C>A - XLRS:c.68C>A chrX 18435418 18435419 RISN_XLRS:c.76G>T - XLRS:c.76G>T chrX 18434536 18434537 RISN_XLRS:c.79-2A>G - XLRS:c.79-2A>G chrX 18435415 18435416 RISN_XLRS:c.78+1G>A - XLRS:c.78+1G>A chrX 18434430 18434535 RISN_XLRS:c.79_183del - XLRS:c.79_183del chrX 18434493 18434494 RISN_XLRS:c.120C>A - XLRS:c.120C>A chrX 18434450 18434451 RISN_XLRS:c.163delA - XLRS:c.163delA chrX 18434449 18434451 RISN_XLRS:c.163_164insGCCA - XLRS:c.163_164insGCCA chrX 18425088 18434441 RISN_XLRS:c.173_205del - XLRS:c.173_205del chrX 18434438 18434439 RISN_XLRS:c.175T>A - XLRS:c.175T>A chrX 18425099 18434433 RISN_XLRS:c.181_194del - XLRS:c.181_194del chrX 18434428 18434429 RISN_XLRS:c.184+1G>C - XLRS:c.184+1G>C chrX 18425109 18425110 RISN_XLRS:c.185-1G>C - XLRS:c.185-1G>C chrX 18424968 18425109 RISN_XLRS:c.185_325del - XLRS:c.185_325del chrX 18419832 18425143 RISN_XLRS:c.185-34_623del - XLRS:c.185-34_623del chrX 18425099 18425100 RISN_XLRS:c.194A>G - XLRS:c.194A>G chrX 18425099 18425100 RISN_XLRS:c.194delA - XLRS:c.194delA chrX 18425085 18425086 RISN_XLRS:c.208G>C - XLRS:c.208G>C chrX 18425084 18425085 RISN_XLRS:c.209G>A - XLRS:c.209G>A chrX 18425079 18425080 RISN_XLRS:c.214G>A - XLRS:c.214G>A chrX 18425079 18425080 RISN_XLRS:c.214G>C - XLRS:c.214G>C chrX 18425077 18425078 RISN_XLRS:c.216G>C - XLRS:c.216G>C chrX 18425076 18425077 RISN_XLRS:c.217T>C - XLRS:c.217T>C chrX 18425074 18425075 RISN_XLRS:c.219delA - XLRS:c.219delA chrX 18425072 18425073 RISN_XLRS:c.221G>T - XLRS:c.221G>T chrX 18425056 18425073 RISN_XLRS:c.221_237delins20 - XLRS:c.221_237delins20 chrX 18425070 18425071 RISN_XLRS:c.223G>T - XLRS:c.223G>T chrX 18425051 18425052 RISN_XLRS:c.242T>A - XLRS:c.242T>A chrX 18425038 18425041 RISN_XLRS:c.253_255delAAC - XLRS:c.253_255delAAC chrX 18425031 18425032 RISN_XLRS:c.262C>T - XLRS:c.262C>T chrX 18425027 18425028 RISN_XLRS:c.266A>G - XLRS:c.266A>G chrX 18425026 18425027 RISN_XLRS:c.267T>A - XLRS:c.267T>A chrX 18425017 18425018 RISN_XLRS:c.276G>C - XLRS:c.276G>C chrX 18425007 18425008 RISN_XLRS:c.286T>C - XLRS:c.286T>C chrX 18425005 18425006 RISN_XLRS:c.288G>A - XLRS:c.288G>A chrX 18425000 18425001 RISN_XLRS:c.293C>A - XLRS:c.293C>A chrX 18424992 18424993 RISN_XLRS:c.301G>C - XLRS:c.301G>C chrX 18424992 18424993 RISN_XLRS:c.301delG - XLRS:c.301delG chrX 18424989 18424990 RISN_XLRS:c.304C>T - XLRS:c.304C>T chrX 18424988 18424989 RISN_XLRS:c.305G>A - XLRS:c.305G>A chrX 18424985 18424986 RISN_XLRS:c.308T>G - XLRS:c.308T>G chrX 18424981 18424982 RISN_XLRS:c.312C>G - XLRS:c.312C>G chrX 18424976 18424977 RISN_XLRS:c.317dupA - XLRS:c.317dupA chrX 18424970 18424971 RISN_XLRS:c.323T>G - XLRS:c.323T>G chrX 18424968 18424969 RISN_XLRS:c.325G>T - XLRS:c.325G>T chrX 18424968 18424969 RISN_XLRS:c.325G>C - XLRS:c.325G>C chrX 18424967 18424968 RISN_XLRS:c.326G>A - XLRS:c.326G>A chrX 18424966 18424967 RISN_XLRS:c.326+1G>A - XLRS:c.326+1G>A chrX 18422399 18422400 RISN_XLRS:c.329G>A - XLRS:c.329G>A chrX 18422398 18422399 RISN_XLRS:c.330T>C - XLRS:c.330T>C chrX 18422398 18422399 RISN_XLRS:c.330T>A - XLRS:c.330T>A chrX 18422392 18422393 RISN_XLRS:c.336G>C - XLRS:c.336G>C chrX 18422392 18422393 RISN_XLRS:c.336G>T - XLRS:c.336G>T chrX 18422391 18422392 RISN_XLRS:c.337C>T - XLRS:c.337C>T chrX 18422378 18422380 RISN_XLRS:c.349_350insT - XLRS:c.349_350insT chrX 18422362 18422363 RISN_XLRS:c.366G>C - XLRS:c.366G>C chrX 18422350 18422354 RISN_XLRS:c.375_378delAGAT - XLRS:c.375_378delAGAT chrX 18422348 18422349 RISN_XLRS:c.380T>C - XLRS:c.380T>C chrX 18422335 18422337 RISN_XLRS:c.392_393delAA - XLRS:c.392_393delAA chrX 18422331 18422332 RISN_XLRS:c.397A>T - XLRS:c.397A>T chrX 18422324 18422325 RISN_XLRS:c.404G>T - XLRS:c.404G>T chrX 18422321 18422322 RISN_XLRS:c.407T>C - XLRS:c.407T>C chrX 18422316 18422317 RISN_XLRS:c.412A>G - XLRS:c.412A>G chrX 18422312 18422313 RISN_XLRS:c.416delA - XLRS:c.416delA chrX 18422310 18422311 RISN_XLRS:c.418G>A - XLRS:c.418G>A chrX 18422309 18422310 RISN_XLRS:c.419G>A - XLRS:c.419G>A chrX 18422307 18422308 RISN_XLRS:c.421C>T - XLRS:c.421C>T chrX 18422307 18422308 RISN_XLRS:c.421C>G - XLRS:c.421C>G chrX 18422306 18422307 RISN_XLRS:c.422G>A - XLRS:c.422G>A chrX 18422302 18422303 RISN_XLRS:c.426T>C - XLRS:c.426T>C chrX 18422301 18422303 RISN_XLRS:c.426_427delTG - XLRS:c.426_427delTG chrX 18422302 18422303 RISN_XLRS:c.426T>G - XLRS:c.426T>G chrX 18422300 18422301 RISN_XLRS:c.428A>T - XLRS:c.428A>T chrX 18422292 18422293 RISN_XLRS:c.436G>A - XLRS:c.436G>A chrX 18422290 18422291 RISN_XLRS:c.438G>C - XLRS:c.438G>C chrX 18422268 18422269 RISN_XLRS:c.460C>T - XLRS:c.460C>T chrX 18422264 18422265 RISN_XLRS:c.464A>G - XLRS:c.464A>G chrX 18422256 18422257 RISN_XLRS:c.472G>A - XLRS:c.472G>A chrX 18422239 18422240 RISN_XLRS:c.489G>A - XLRS:c.489G>A chrX 18422239 18422240 RISN_XLRS:c.489G>T - XLRS:c.489G>T chrX 18422229 18422230 RISN_XLRS:c.499A>T - XLRS:c.499A>T chrX 18422227 18422228 RISN_XLRS:c.501G>C - XLRS:c.501G>C chrX 18422201 18422202 RISN_XLRS:c.522+5G>A - XLRS:c.522+5G>A chrX 18422205 18422206 RISN_XLRS:c.522+1G>T - XLRS:c.522+1G>T chrX 18422205 18422206 RISN_XLRS:c.522+1G>A - XLRS:c.522+1G>A chrX 18419934 18419935 RISN_XLRS:c.523-2A>G - XLRS:c.523-2A>G chrX 18419922 18419923 RISN_XLRS:c.533G>A - XLRS:c.533G>A chrX 18419920 18419921 RISN_XLRS:c.535A>G - XLRS:c.535A>G chrX 18419911 18419912 RISN_XLRS:c.544C>T - XLRS:c.544C>T chrX 18419906 18419908 RISN_XLRS:c.548_549insCC - XLRS:c.548_549insCC chrX 18419901 18419902 RISN_XLRS:c.554C>T - XLRS:c.554C>T chrX 18419881 18419882 RISN_XLRS:c.574C>T - XLRS:c.574C>T chrX 18419881 18419882 RISN_XLRS:c.574C>A - XLRS:c.574C>A chrX 18419880 18419881 RISN_XLRS:c.575C>G - XLRS:c.575C>G chrX 18419878 18419880 RISN_XLRS:c.576_577insT - XLRS:c.576_577insT chrX 18419878 18419879 RISN_XLRS:c.577C>T - XLRS:c.577C>T chrX 18419877 18419878 RISN_XLRS:c.578C>T - XLRS:c.578C>T chrX 18419876 18419877 RISN_XLRS:c.579dupC - XLRS:c.579dupC chrX 18419866 18419867 RISN_XLRS:c.589C>T - XLRS:c.589C>T chrX 18419865 18419866 RISN_XLRS:c.590G>C - XLRS:c.590G>C chrX 18419865 18419866 RISN_XLRS:c.590G>A - XLRS:c.590G>A chrX 18419859 18419860 RISN_XLRS:c.596T>C - XLRS:c.596T>C chrX 18419857 18419858 RISN_XLRS:c.598C>T - XLRS:c.598C>T chrX 18419856 18419857 RISN_XLRS:c.599G>A - XLRS:c.599G>A chrX 18419849 18419850 RISN_XLRS:c.606C>T - XLRS:c.606C>T chrX 18419847 18419848 RISN_XLRS:c.608C>T - XLRS:c.608C>T chrX 18419837 18419838 RISN_XLRS:c.618G>A - XLRS:c.618G>A chrX 18419834 18419835 RISN_XLRS:c.621C>G - XLRS:c.621C>G chrX 18419830 18419831 RISN_XLRS:c.625C>T - XLRS:c.625C>T chrX 18419830 18419831 RISN_XLRS:c.625C>G - XLRS:c.625C>G chrX 18419829 18419830 RISN_XLRS:c.626G>A - XLRS:c.626G>A chrX 18419824 18419825 RISN_XLRS:c.631G>A - XLRS:c.631G>A chrX 18419817 18419818 RISN_XLRS:c.638G>A - XLRS:c.638G>A chrX 18419818 18419819 RISN_XLRS:c.637C>T - XLRS:c.637C>T chrX 18419816 18419817 RISN_XLRS:c.639delG - XLRS:c.639delG chrX 18419812 18419813 RISN_XLRS:c.643G>A - XLRS:c.643G>A chrX 18419812 18419813 RISN_XLRS:c.643G>C - XLRS:c.643G>C chrX 18419808 18419809 RISN_XLRS:c.647T>C - XLRS:c.647T>C chrX 18419800 18419801 RISN_XLRS:c.655T>C - XLRS:c.655T>C chrX 18419800 18419801 RISN_XLRS:c.655T>G - XLRS:c.655T>G chrX 18419800 18419801 RISN_XLRS:c.655delT - XLRS:c.655delT chrX 18419776 18419801 RISN_XLRS:c.655_679del - XLRS:c.655_679del chrX 18419789 18419790 RISN_XLRS:c.666G>C - XLRS:c.666G>C chrX 18419777 18419778 RISN_XLRS:c.675*3C>T - XLRS:c.675*3C>T chr11 88550769 88551588 RISN_TYR:c.(?_1)_(819_?)del + TYR:c.(?_1)_(819_?)del chr11 88550769 88550770 RISN_TYR:c.1A>G + TYR:c.1A>G chr11 88550770 88550771 RISN_TYR:c.2T>C + TYR:c.2T>C chr11 88550792 88550793 RISN_TYR:c.24delC + TYR:c.24delC chr11 88550820 88550821 RISN_TYR:c.52delG + TYR:c.52delG chr11 88550825 88550826 RISN_TYR:c.57T>A + TYR:c.57T>A chr11 88550829 88550830 RISN_TYR:c.61C>T + TYR:c.61C>T chr11 88550875 88550876 RISN_TYR:c.107G>A + TYR:c.107G>A chr11 88550893 88550894 RISN_TYR:c.125A>G + TYR:c.125A>G chr11 88550908 88550909 RISN_TYR:c.140G>A + TYR:c.140G>A chr11 88550917 88550918 RISN_TYR:c.149C>G + TYR:c.149C>G chr11 88550923 88550924 RISN_TYR:c.155G>T + TYR:c.155G>T chr11 88550932 88550933 RISN_TYR:c.164G>A + TYR:c.164G>A chr11 88550990 88550991 RISN_TYR:c.222delG + TYR:c.222delG chr11 88550997 88550998 RISN_TYR:c.229C>T + TYR:c.229C>T chr11 88550998 88550999 RISN_TYR:c.230G>A + TYR:c.230G>A chr11 88551000 88551001 RISN_TYR:c.232G>T + TYR:c.232G>T chr11 88550999 88551001 RISN_TYR:c.231_232insGGG + TYR:c.231_232insGGG chr11 88551006 88551007 RISN_TYR:c.238T>C + TYR:c.238T>C chr11 88551008 88551009 RISN_TYR:c.240G>A + TYR:c.240G>A chr11 88551010 88551011 RISN_TYR:c.242C>T + TYR:c.242C>T chr11 88551033 88551034 RISN_TYR:c.265T>C + TYR:c.265T>C chr11 88551054 88551055 RISN_TYR:c.286dupA + TYR:c.286dupA chr11 88551057 88551058 RISN_TYR:c.289G>A + TYR:c.289G>A chr11 88551093 88551094 RISN_TYR:c.325G>A + TYR:c.325G>A chr11 88551104 88551106 RISN_TYR:c.336_337delCA + TYR:c.336_337delCA chr11 88551108 88551110 RISN_TYR:c.340_341delGA + TYR:c.340_341delGA chr11 88551114 88551115 RISN_TYR:c.346C>T + TYR:c.346C>T chr11 88551224 88551225 RISN_TYR:c.456C>T + TYR:c.456C>T chr11 88551226 88551228 RISN_TYR:c.458_459insT + TYR:c.458_459insT chr11 88551294 88551295 RISN_TYR:c.526T>A + TYR:c.526T>A chr11 88551301 88551302 RISN_TYR:c.533G>A + TYR:c.533G>A chr11 88551336 88551337 RISN_TYR:c.568delG + TYR:c.568delG chr11 88551343 88551344 RISN_TYR:c.575C>A + TYR:c.575C>A chr11 88551381 88551382 RISN_TYR:c.613C>A + TYR:c.613C>A chr11 88551384 88551385 RISN_TYR:c.616G>A + TYR:c.616G>A chr11 88551414 88551415 RISN_TYR:c.646T>A + TYR:c.646T>A chr11 88551417 88551418 RISN_TYR:c.649delC + TYR:c.649delC chr11 88551417 88551418 RISN_TYR:c.649C>G + TYR:c.649C>G chr11 88551417 88551418 RISN_TYR:c.649C>T + TYR:c.649C>T chr11 88551418 88551419 RISN_TYR:c.650G>A + TYR:c.650G>A chr11 88551446 88551449 RISN_TYR:c.678_680delAGG + TYR:c.678_680delAGG chr11 88551475 88551476 RISN_TYR:c.707G>A + TYR:c.707G>A chr11 88551475 88551476 RISN_TYR:c.707G>C + TYR:c.707G>C chr11 88551498 88551500 RISN_TYR:c.730_731delTG + TYR:c.730_731delTG chr11 88551525 88551526 RISN_TYR:c.757G>A + TYR:c.757G>A chr11 88551534 88551535 RISN_TYR:c.766C>T + TYR:c.766C>T chr11 88551584 88551585 RISN_TYR:c.816G>C + TYR:c.816G>C chr11 88564014 88564015 RISN_TYR:c.820-3C>G + TYR:c.820-3C>G chr11 88564020 88564021 RISN_TYR:c.823G>T + TYR:c.823G>T chr11 88564029 88564030 RISN_TYR:c.832C>T + TYR:c.832C>T chr11 88564037 88564038 RISN_TYR:c.840delG + TYR:c.840delG chr11 88564072 88564073 RISN_TYR:c.875C>T + TYR:c.875C>T chr11 88564088 88564089 RISN_TYR:c.891A>G + TYR:c.891A>G chr11 88564092 88564093 RISN_TYR:c.895C>A + TYR:c.895C>A chr11 88564093 88564094 RISN_TYR:c.896G>A + TYR:c.896G>A chr11 88564123 88564124 RISN_TYR:c.926dupC + TYR:c.926dupC chr11 88564131 88564132 RISN_TYR:c.934C>G + TYR:c.934C>G chr11 88564135 88564136 RISN_TYR:c.938C>G + TYR:c.938C>G chr11 88564170 88564171 RISN_TYR:c.973A>G + TYR:c.973A>G chr11 88564179 88564180 RISN_TYR:c.982G>C + TYR:c.982G>C chr11 88564212 88564213 RISN_TYR:c.1015A>G + TYR:c.1015A>G chr11 88564215 88564216 RISN_TYR:c.1018T>C + TYR:c.1018T>C chr11 88600631 88600632 RISN_TYR:c.1037-7T>A + TYR:c.1037-7T>A chr11 88600637 88600638 RISN_TYR:c.1037-1G>A + TYR:c.1037-1G>A chr11 88600664 88600665 RISN_TYR:c.1063G>C + TYR:c.1063G>C chr11 88600676 88600677 RISN_TYR:c.1075C>T + TYR:c.1075C>T chr11 88600682 88600683 RISN_TYR:c.1081A>C + TYR:c.1081A>C chr11 88600701 88600702 RISN_TYR:c.1100A>G + TYR:c.1100A>G chr11 88600710 88600711 RISN_TYR:c.1109T>C + TYR:c.1109T>C chr11 88600712 88600713 RISN_TYR:c.1111A>T + TYR:c.1111A>T chr11 88600713 88600714 RISN_TYR:c.1112A>C + TYR:c.1112A>C chr11 88600719 88600720 RISN_TYR:c.1118C>A + TYR:c.1118C>A chr11 88600727 88600728 RISN_TYR:c.1126C>T + TYR:c.1126C>T chr11 88600733 88600734 RISN_TYR:c.1132C>T + TYR:c.1132C>T chr11 88600739 88600740 RISN_TYR:c.1138T>C + TYR:c.1138T>C chr11 88600747 88600748 RISN_TYR:c.1146C>A + TYR:c.1146C>A chr11 88600748 88600749 RISN_TYR:c.1147G>A + TYR:c.1147G>A chr11 88600761 88600762 RISN_TYR:c.1160delT + TYR:c.1160delT chr11 88600764 88600765 RISN_TYR:c.1163delT + TYR:c.1163delT chr11 88600769 88600770 RISN_TYR:c.1168C>G + TYR:c.1168C>G chr11 88600784 88600785 RISN_TYR:c.1183A>G + TYR:c.1183A>G chr11 88657602 88657603 RISN_TYR:c.1199G>T + TYR:c.1199G>T chr11 88657607 88657608 RISN_TYR:c.1204C>T + TYR:c.1204C>T chr11 88657608 88657609 RISN_TYR:c.1205G>A + TYR:c.1205G>A chr11 88657612 88657613 RISN_TYR:c.1209G>T + TYR:c.1209G>T chr11 88657614 88657615 RISN_TYR:c.1211A>C + TYR:c.1211A>C chr11 88657620 88657621 RISN_TYR:c.1217C>T + TYR:c.1217C>T chr11 88657658 88657659 RISN_TYR:c.1255G>A + TYR:c.1255G>A chr11 88657668 88657669 RISN_TYR:c.1265G>A + TYR:c.1265G>A chr11 88657695 88657696 RISN_TYR:c.1292C>T + TYR:c.1292C>T chr11 88657717 88657721 RISN_TYR:c.1314_1317delCTTT + TYR:c.1314_1317delCTTT chr11 88657718 88657719 RISN_TYR:c.1315T>G + TYR:c.1315T>G chr11 88657739 88657740 RISN_TYR:c.1336G>A + TYR:c.1336G>A chr11 88657745 88657746 RISN_TYR:c.1342G>A + TYR:c.1342G>A chr11 88657760 88657761 RISN_TYR:c.1357C>T + TYR:c.1357C>T chr11 88657774 88657775 RISN_TYR:c.1366+5A>G + TYR:c.1366+5A>G chr11 88657773 88657774 RISN_TYR:c.1366+4A>G + TYR:c.1366+4A>G chr11 88668058 88668059 RISN_TYR:c.1467dupT + TYR:c.1467dupT chr11 88668092 88668093 RISN_TYR:c.1501dupC + TYR:c.1501dupC chr11 88550468 88550469 RISN_TYR:c.-301C>T + TYR:c.-301C>T chr11 88550570 88550571 RISN_TYR:c.-199C>A + TYR:c.-199C>A chr11 88550110 88550112 RISN_TYR:c.-658delC + TYR:c.-658delC#insertion in reference# chr11 88550085 88550087 RISN_TYR:c.-683_-682insG + TYR:c.-683_-682insG chr11 88550075 88550077 RISN_TYR:c.-692_-691insC + TYR:c.-692_-691insC chr11 88549965 88549967 RISN_TYR:c.-802_-801insGAGAGGGAGA + TYR:c.-802_-801insGAGAGGGAGA chr6 42798048 42798049 RISN_RDS:c.2T>C - RDS:c.2T>C chr6 42798013 42798014 RISN_RDS:c.37C>T - RDS:c.37C>T chr6 42798013 42798014 RISN_RDS:c.37C>A - RDS:c.37C>A chr6 42797976 42797978 RISN_RDS:c.73_74delTG - RDS:c.73_74delTG chr6 42797970 42797971 RISN_RDS:c.80C>T - RDS:c.80C>T chr6 42797956 42797957 RISN_RDS:c.94A>G - RDS:c.94A>G chr6 42797953 42797955 RISN_RDS:c.96_97insC - RDS:c.96_97insC chr6 42797937 42797938 RISN_RDS:c.113delG - RDS:c.113delG chr6 42797917 42797918 RISN_RDS:c.133C>T - RDS:c.133C>T chr6 42797914 42797915 RISN_RDS:c.136C>T - RDS:c.136C>T chr6 42797848 42797853 RISN_RDS:c.198_202delinsAAGACAGA - RDS:c.198_202delinsAAGACAGA chr6 42797849 42797852 RISN_RDS:c.199_201delATG - RDS:c.199_201delATG chr6 42797848 42797849 RISN_RDS:c.202G>A - RDS:c.202G>A chr6 42797801 42797802 RISN_RDS:c.249C>T - RDS:c.249C>T chr6 42797747 42797748 RISN_RDS:c.303C>T - RDS:c.303C>T chr6 42797732 42797733 RISN_RDS:c.318C>T - RDS:c.318C>T chr6 42797693 42797696 RISN_RDS:c.355_357delTGC - RDS:c.355_357delTGC chr6 42797679 42797680 RISN_RDS:c.371delG - RDS:c.371delG chr6 42797674 42797675 RISN_RDS:c.376C>G - RDS:c.376C>G chr6 42797629 42797630 RISN_RDS:c.421T>C - RDS:c.421T>C chr6 42797628 42797629 RISN_RDS:c.422A>G - RDS:c.422A>G chr6 42797626 42797628 RISN_RDS:c.423_424insTACT - RDS:c.423_424insTACT chr6 42797626 42797627 RISN_RDS:c.424C>T - RDS:c.424C>T chr6 42797609 42797610 RISN_RDS:c.441delT - RDS:c.441delT chr6 42797592 42797593 RISN_RDS:c.458A>G - RDS:c.458A>G chr6 42797588 42797591 RISN_RDS:c.460_462delAAG - RDS:c.460_462delAAG chr6 42797581 42797582 RISN_RDS:c.469G>A - RDS:c.469G>A chr6 42797556 42797557 RISN_RDS:c.494G>A - RDS:c.494G>A chr6 42797550 42797551 RISN_RDS:c.500G>A - RDS:c.500G>A chr6 42797543 42797546 RISN_RDS:c.505_507delAAC - RDS:c.505_507delAAC chr6 42797542 42797543 RISN_RDS:c.508G>A - RDS:c.508G>A chr6 42797536 42797537 RISN_RDS:c.514C>G - RDS:c.514C>G chr6 42797536 42797537 RISN_RDS:c.514C>T - RDS:c.514C>T chr6 42797535 42797536 RISN_RDS:c.515G>A - RDS:c.515G>A chr6 42797532 42797533 RISN_RDS:c.518A>T - RDS:c.518A>T chr6 42797517 42797518 RISN_RDS:c.533A>G - RDS:c.533A>G chr6 42797515 42797516 RISN_RDS:c.535T>C - RDS:c.535T>C chr6 42797499 42797500 RISN_RDS:c.551A>C - RDS:c.551A>C chr6 42797496 42797497 RISN_RDS:c.554T>C - RDS:c.554T>C chr6 42797471 42797474 RISN_RDS:c.577_579delAAA - RDS:c.577_579delAAA chr6 42797471 42797473 RISN_RDS:c.578_579delAA - RDS:c.578_579delAA chr6 42774013 42780327 RISN_RDS:c.(?_582)_(1038_?)del - RDS:c.(?_582)_(1038_?)del chr6 42780324 42780325 RISN_RDS:c.584G>T - RDS:c.584G>T chr6 42780319 42780320 RISN_RDS:c.589A>G - RDS:c.589A>G chr6 42780309 42780310 RISN_RDS:c.599T>A - RDS:c.599T>A chr6 42780283 42780300 RISN_RDS:c.609_625del - RDS:c.609_625del chr6 42780281 42780293 RISN_RDS:c.616_627delGTGGACGGCGTC - RDS:c.616_627delGTGGACGGCGTC chr6 42780284 42780286 RISN_RDS:c.623_624insG - RDS:c.623_624insG chr6 42780280 42780281 RISN_RDS:c.628C>T - RDS:c.628C>T chr6 42780279 42780280 RISN_RDS:c.629C>G - RDS:c.629C>G chr6 42780279 42780280 RISN_RDS:c.629C>T - RDS:c.629C>T chr6 42780275 42780276 RISN_RDS:c.633C>A - RDS:c.633C>A chr6 42780274 42780275 RISN_RDS:c.634A>G - RDS:c.634A>G chr6 42780273 42780274 RISN_RDS:c.635G>C - RDS:c.635G>C chr6 42780271 42780272 RISN_RDS:c.637T>C - RDS:c.637T>C chr6 42780270 42780271 RISN_RDS:c.638G>A - RDS:c.638G>A chr6 42780267 42780268 RISN_RDS:c.641G>C - RDS:c.641G>C chr6 42780267 42780268 RISN_RDS:c.641G>A - RDS:c.641G>A chr6 42780262 42780263 RISN_RDS:c.646C>T - RDS:c.646C>T chr6 42780261 42780262 RISN_RDS:c.647C>T - RDS:c.647C>T chr6 42780250 42780253 RISN_RDS:c.656_658delCAC - RDS:c.656_658delCAC chr6 42780252 42780253 RISN_RDS:c.656C>G - RDS:c.656C>G chr6 42780250 42780251 RISN_RDS:c.658C>T - RDS:c.658C>T chr6 42780249 42780250 RISN_RDS:c.659G>A - RDS:c.659G>A chr6 42780235 42780237 RISN_RDS:c.672_673ins37 - RDS:c.672_673ins37 chr6 42780232 42780233 RISN_RDS:c.676C>G - RDS:c.676C>G chr6 42780207 42780209 RISN_RDS:c.700_701insT - RDS:c.700_701insT chr6 42780200 42780201 RISN_RDS:c.708C>T - RDS:c.708C>T chr6 42780193 42780194 RISN_RDS:c.715C>T - RDS:c.715C>T chr6 42780178 42780179 RISN_RDS:c.730A>C - RDS:c.730A>C chr6 42780176 42780177 RISN_RDS:c.732C>G - RDS:c.732C>G chr6 42780176 42780177 RISN_RDS:c.732C>A - RDS:c.732C>A chr6 42780172 42780173 RISN_RDS:c.736T>C - RDS:c.736T>C chr6 42780135 42780136 RISN_RDS:c.773A>C - RDS:c.773A>C chr6 42780111 42780112 RISN_RDS:c.797G>A - RDS:c.797G>A chr6 42780106 42780107 RISN_RDS:c.802G>A - RDS:c.802G>A chr6 42780083 42780085 RISN_RDS:c.824_825delTC - RDS:c.824_825delTC chr6 42780058 42780060 RISN_RDS:c.828+21_828+22ins7 - RDS:c.828+21_828+22ins7 chr6 42780077 42780078 RISN_RDS:c.828+3A>T - RDS:c.828+3A>T chr6 42774196 42774197 RISN_RDS:c.855C>A - RDS:c.855C>A chr6 42774185 42774186 RISN_RDS:c.866C>T - RDS:c.866C>T chr6 42774153 42774155 RISN_RDS:c.897_898delTG - RDS:c.897_898delTG chr6 42774147 42774148 RISN_RDS:c.904G>T - RDS:c.904G>T chr6 42774141 42774142 RISN_RDS:c.910G>C - RDS:c.910G>C chr6 42774129 42774138 RISN_RDS:c.914_922del - RDS:c.914_922del chr6 42774137 42774138 RISN_RDS:c.914G>A - RDS:c.914G>A chr6 42774131 42774132 RISN_RDS:c.920delT - RDS:c.920delT chr6 42774122 42774123 RISN_RDS:c.929A>G - RDS:c.929A>G chr6 42774113 42774114 RISN_RDS:c.938C>T - RDS:c.938C>T chr6 42774104 42774105 RISN_RDS:c.947G>A - RDS:c.947G>A chr6 42774060 42774061 RISN_RDS:c.991C>T - RDS:c.991C>T chr6 42774038 42774039 RISN_RDS:c.1013G>A - RDS:c.1013G>A chr6 42773865 42773866 RISN_RDS:c.1038*148A>G - RDS:c.1038*148A>G chr6 42773464 42773465 RISN_RDS:c.1038*549A>G - RDS:c.1038*549A>G chr6 42773245 42773246 RISN_RDS:c.1038*768T>C - RDS:c.1038*768T>C chr6 42773157 42773161 RISN_RDS:c.1891_1894del - RDS:c.1891_1894del chr6 42773109 42773110 RISN_RDS:c.1038*904A>C - RDS:c.1038*904A>C chr6 42773006 42773007 RISN_RDS:c.1038*1007A>C - RDS:c.1038*1007A>C chr6 42772650 42772651 RISN_RDS:c.1038*1363T>C - RDS:c.1038*1363T>C chr6 42772632 42772633 RISN_RDS:c.1038*1381T>C - RDS:c.1038*1381T>C chr19 53029532 53029533 RISN_CRX:c.21dupG + CRX:c.21dupG chr19 53029623 53029624 RISN_CRX:c.100+12C>T + CRX:c.100+12C>T chr19 53029613 53029614 RISN_CRX:c.100+2T>C + CRX:c.100+2T>C chr19 53031298 53031299 RISN_CRX:c.101-13C>G + CRX:c.101-13C>G chr19 53031246 53031247 RISN_CRX:c.101-65A>T + CRX:c.101-65A>T chr19 53031331 53031332 RISN_CRX:c.121C>T + CRX:c.121C>T chr19 53031332 53031333 RISN_CRX:c.122G>A + CRX:c.122G>A chr19 53031376 53031377 RISN_CRX:c.166G>A + CRX:c.166G>A chr19 53031406 53031407 RISN_CRX:c.196G>A + CRX:c.196G>A chr19 53031448 53031449 RISN_CRX:c.238G>A + CRX:c.238G>A chr19 53031449 53031450 RISN_CRX:c.239A>C + CRX:c.239A>C chr19 53034373 53034374 RISN_CRX:c.253-15G>A + CRX:c.253-15G>A chr19 53034370 53034371 RISN_CRX:c.253-18T>A + CRX:c.253-18T>A chr19 53034403 53034406 RISN_CRX:p.Arg90Trp + CRX:p.Arg90Trp chr19 53034470 53034471 RISN_CRX:c.335C>T + CRX:c.335C>T chr19 53034486 53034487 RISN_CRX:c.351dupC + CRX:c.351dupC chr19 53034500 53034501 RISN_CRX:c.365G>A + CRX:c.365G>A chr19 53034560 53034561 RISN_CRX:c.425A>G + CRX:c.425A>G chr19 53034571 53034583 RISN_CRX:c.436_447del + CRX:c.436_447del chr19 53034579 53034580 RISN_CRX:c.444dupC + CRX:c.444dupC chr19 53034607 53034608 RISN_CRX:c.472G>A + CRX:c.472G>A chr19 53034636 53034638 RISN_CRX:c.501_502delAG + CRX:c.501_502delAG chr19 53034640 53034641 RISN_CRX:c.505delT + CRX:c.505delT chr19 53034654 53034655 RISN_CRX:c.519delG + CRX:c.519delG chr19 53034664 53034665 RISN_CRX:c.529delG + CRX:c.529delG chr19 53034676 53034677 RISN_CRX:c.541delG + CRX:c.541delG chr19 53034684 53034685 RISN_CRX:c.549G>A + CRX:c.549G>A chr19 53034706 53034707 RISN_CRX:c.571delT + CRX:c.571delT chr19 53034720 53034721 RISN_CRX:c.585dupC + CRX:c.585dupC chr19 53034722 53034726 RISN_CRX:c.587_590delCCCC + CRX:c.587_590delCCCC chr19 53034732 53034733 RISN_CRX:c.597C>T + CRX:c.597C>T chr19 53034748 53034749 RISN_CRX:c.613delC + CRX:c.613delC chr19 53034784 53034785 RISN_CRX:c.649delG + CRX:c.649delG chr19 53034840 53034841 RISN_CRX:c.705delC + CRX:c.705delC chr19 53034859 53034860 RISN_CRX:c.724G>A + CRX:c.724G>A chr19 53034855 53034856 RISN_CRX:c.bp_720dup + CRX:c.bp_720dup chr19 53034888 53034889 RISN_CRX:c.753delC + CRX:c.753delC chr19 53034921 53034922 RISN_CRX:c.786delC + CRX:c.786delC chr19 53034953 53034954 RISN_CRX:c.818C>T + CRX:c.818C>T chr17 7847091 7847092 RISN_GC1:c.2T>A + GC1:c.2T>A chr17 7847092 7847093 RISN_GC1:c.3G>A + GC1:c.3G>A chr17 7847092 7847093 RISN_GC1:c.3G>C + GC1:c.3G>C chr17 7847141 7847189 RISN_GC1:c.52_99dup + GC1:c.52_99dup chr17 7847150 7847151 RISN_GC1:c.61T>C + GC1:c.61T>C chr17 7847176 7847177 RISN_GC1:c.87dupC + GC1:c.87dupC chr17 7847210 7847211 RISN_GC1:c.121C>T + GC1:c.121C>T chr17 7847243 7847244 RISN_GC1:c.154G>T + GC1:c.154G>T chr17 7847315 7847329 RISN_GC1:c.226_239del + GC1:c.226_239del chr17 7847378 7847379 RISN_GC1:c.289G>C + GC1:c.289G>C chr17 7847396 7847397 RISN_GC1:c.307G>A + GC1:c.307G>A chr17 7847403 7847404 RISN_GC1:c.314G>A + GC1:c.314G>A chr17 7847476 7847477 RISN_GC1:c.387delC + GC1:c.387delC chr17 7847476 7847477 RISN_GC1:c.387C>A + GC1:c.387C>A chr17 7847709 7847710 RISN_GC1:c.620delC + GC1:c.620delC chr17 7847951 7847952 RISN_GC1:c.779T>C + GC1:c.779T>C chr17 7848107 7848108 RISN_GC1:c.935C>T + GC1:c.935C>T chr17 7848109 7848110 RISN_GC1:c.937C>T + GC1:c.937C>T chr17 7848146 7848147 RISN_GC1:c.974T>C + GC1:c.974T>C chr17 7850430 7850431 RISN_GC1:c.1052A>G + GC1:c.1052A>G chr17 7850462 7850463 RISN_GC1:c.1084G>T + GC1:c.1084G>T chr17 7850614 7850615 RISN_GC1:c.1236C>T + GC1:c.1236C>T chr17 7850721 7850722 RISN_GC1:c.1343C>A + GC1:c.1343C>A chr17 7851074 7851075 RISN_GC1:c.1379-28A>G + GC1:c.1379-28A>G chr17 7851147 7851155 RISN_GC1:c.1424_1431dup + GC1:c.1424_1431dup chr17 7851541 7851542 RISN_GC1:c.1537C>T + GC1:c.1537C>T chr17 7851572 7851573 RISN_GC1:c.1566+2T>C + GC1:c.1566+2T>C chr17 7852021 7852022 RISN_GC1:c.1615A>G + GC1:c.1615A>G chr17 7852024 7852025 RISN_GC1:c.1618C>T + GC1:c.1618C>T chr17 7853573 7853574 RISN_GC1:c.1694T>C + GC1:c.1694T>C chr17 7853596 7853597 RISN_GC1:c.1717A>G + GC1:c.1717A>G chr17 7853603 7853604 RISN_GC1:c.1724C>T + GC1:c.1724C>T chr17 7856242 7856267 RISN_GC1:c.1806_1830del + GC1:c.1806_1830del chr17 7856394 7856395 RISN_GC1:c.1956+2T>A + GC1:c.1956+2T>A chr17 7856491 7856492 RISN_GC1:c.1957-1G>T + GC1:c.1957-1G>T chr17 7856491 7856492 RISN_GC1:c.1957-1G>A + GC1:c.1957-1G>A chr17 7856492 7856493 RISN_GC1:c.1957G>A + GC1:c.1957G>A chr17 7856513 7856514 RISN_GC1:c.1978C>T + GC1:c.1978C>T chr17 7856514 7856515 RISN_GC1:c.1979G>A + GC1:c.1979G>A chr17 7856613 7856621 RISN_GC1:c.2078_2085del + GC1:c.2078_2085del chr17 7856615 7856616 RISN_GC1:c.2080C>A + GC1:c.2080C>A chr17 7856636 7856637 RISN_GC1:c.2101C>T + GC1:c.2101C>T chr17 7856644 7856645 RISN_GC1:c.2109G>A + GC1:c.2109G>A chr17 7857268 7857269 RISN_GC1:c.2237A>G + GC1:c.2237A>G chr17 7857279 7857280 RISN_GC1:c.2248G>T + GC1:c.2248G>T chr17 7857960 7857961 RISN_GC1:c.2302C>T + GC1:c.2302C>T chr17 7857975 7857976 RISN_GC1:c.2317A>C + GC1:c.2317A>C chr17 7858004 7858005 RISN_GC1:c.2346C>A + GC1:c.2346C>A chr17 7858042 7858043 RISN_GC1:c.2384G>T + GC1:c.2384G>T chr17 7858741 7858742 RISN_GC1:c.2511G>C + GC1:c.2511G>C chr17 7858742 7858743 RISN_GC1:c.2512C>T + GC1:c.2512C>T chr17 7858742 7858743 RISN_GC1:c.2512C>A + GC1:c.2512C>A chr17 7858743 7858744 RISN_GC1:c.2513G>A + GC1:c.2513G>A chr17 7858746 7858747 RISN_GC1:c.2516C>T + GC1:c.2516C>T chr17 7858796 7858797 RISN_GC1:c.2566A>G + GC1:c.2566A>G chr17 7858802 7858803 RISN_GC1:c.2572C>T + GC1:c.2572C>T chr17 7858843 7858844 RISN_GC1:c.2576+37G>T + GC1:c.2576+37G>T chr17 7859069 7859070 RISN_GC1:c.2745C>T + GC1:c.2745C>T chr17 7859073 7859074 RISN_GC1:c.2749G>C + GC1:c.2749G>C chr17 7859400 7859401 RISN_GC1:c.2800G>C + GC1:c.2800G>C chr17 7859437 7859438 RISN_GC1:c.2837C>T + GC1:c.2837C>T chr17 7859449 7859450 RISN_GC1:c.2849C>T + GC1:c.2849C>T chr17 7859461 7859462 RISN_GC1:c.2861T>C + GC1:c.2861T>C chr17 7859499 7859500 RISN_GC1:c.2899delC + GC1:c.2899delC chr17 7859527 7859528 RISN_GC1:c.2927G>T + GC1:c.2927G>T chr17 7859543 7859544 RISN_GC1:c.2943delG + GC1:c.2943delG chr17 7859791 7859792 RISN_GC1:c.2951G>A + GC1:c.2951G>A chr17 7859823 7859824 RISN_GC1:c.2983C>T + GC1:c.2983C>T chr17 7859865 7859866 RISN_GC1:c.3025A>T + GC1:c.3025A>T chr17 7859887 7859888 RISN_GC1:c.3043+4A>T + GC1:c.3043+4A>T chr17 7859980 7859981 RISN_GC1:c.3055C>A + GC1:c.3055C>A chr17 7859980 7859990 RISN_GC1:c.3055_3064delins4 + GC1:c.3055_3064delins4 chr17 7860003 7860005 RISN_GC1:c.3078_3079delGA + GC1:c.3078_3079delGA chr17 7860031 7860032 RISN_GC1:c.3106C>T + GC1:c.3106C>T chr17 7860033 7860034 RISN_GC1:c.3108G>T + GC1:c.3108G>T chr17 7860043 7860044 RISN_GC1:c.3118C>G + GC1:c.3118C>G chr17 7860043 7860044 RISN_GC1:c.3118C>T + GC1:c.3118C>T chr17 7860098 7860099 RISN_GC1:c.3138+34G>T + GC1:c.3138+34G>T chr17 7860289 7860290 RISN_GC1:c.3181G>A + GC1:c.3181G>A chr17 7860313 7860314 RISN_GC1:c.3205delC + GC1:c.3205delC chr17 7860495 7860497 RISN_GC1:c.3235_3236insACCA + GC1:c.3235_3236insACCA chr17 7860542 7860543 RISN_GC1:c.3282G>T + GC1:c.3282G>T chr17 7848369 7848370 RISN_GC1:c.1026+171delG + GC1:c.1026+171delG chr17 7847430 7847431 RISN_GC1:c.341T>C + GC1:c.341T>C chr17 7847666 7847667 RISN_GC1:c.577C>T + GC1:c.577C>T chr1 94276504 94276505 RISN_ABCR:c.634C>T - ABCR:c.634C>T chr1 94261022 94261023 RISN_ABCR:c.769-5T>G - ABCR:c.769-5T>G chr1 94255409 94255410 RISN_ABCR:c.1411G>A - ABCR:c.1411G>A chr1 94232821 94232822 RISN_ABCR:c.2453G>A - ABCR:c.2453G>A chr1 94229274 94229275 RISN_ABCR:c.2588G>C - ABCR:c.2588G>C chr1 94224529 94224530 RISN_ABCR:c.2884delC - ABCR:c.2884delC chr1 94220989 94220990 RISN_ABCR:c.3113C>T - ABCR:c.3113C>T chr1 94218921 94218922 RISN_ABCR:c.3386G>T - ABCR:c.3386G>T chr1 94208073 94208074 RISN_ABCR:c.4283C>T - ABCR:c.4283C>T chr1 94208059 94208060 RISN_ABCR:c.4297G>A - ABCR:c.4297G>A chr1 94202615 94202616 RISN_ABCR:c.4549C>A - ABCR:c.4549C>A chr1 94199510 94199511 RISN_ABCR:c.4685T>C - ABCR:c.4685T>C chr1 94199481 94199482 RISN_ABCR:c.4714A>T - ABCR:c.4714A>T chr1 94199463 94199464 RISN_ABCR:c.4732G>A - ABCR:c.4732G>A chr1 94199421 94199422 RISN_ABCR:c.4773+1G>T - ABCR:c.4773+1G>T chr1 94197157 94197158 RISN_ABCR:c.5196+1G>A - ABCR:c.5196+1G>A chr1 94188397 94188398 RISN_ABCR:c.5693G>A - ABCR:c.5693G>A chr1 94185827 94185828 RISN_ABCR:c.5882G>A - ABCR:c.5882G>A chr1 94185307 94185308 RISN_ABCR:c.5908C>T - ABCR:c.5908C>T chr1 94179568 94179569 RISN_ABCR:c.6148G>C - ABCR:c.6148G>C chr1 94175668 94175669 RISN_ABCR:c.6498C>G - ABCR:c.6498C>G chr1 94175637 94175648 RISN_ABCR:c.6519_6529del - ABCR:c.6519_6529del chr1 94175637 94175638 RISN_ABCR:c.6529G>A - ABCR:c.6529G>A chr1 94175598 94175599 RISN_ABCR:c.6568delC - ABCR:c.6568delC chr1 94232689 94232690 RISN_ABCR:c.2585C>T - ABCR:c.2585C>T chr1 94183076 94183077 RISN_ABCR:c.6088C>T - ABCR:c.6088C>T chr1 94178442 94178443 RISN_ABCR:c.6449G>A - ABCR:c.6449G>A chr1 94240686 94240687 RISN_ABCR:c.1760+2T>G - ABCR:c.1760+2T>G chr1 94240243 94240244 RISN_ABCR:c.1847delA - ABCR:c.1847delA chr1 94224586 94224587 RISN_ABCR:c.2827C>G - ABCR:c.2827C>G chr1 94217731 94217732 RISN_ABCR:c.3523-28T>C - ABCR:c.3523-28T>C chr1 94207020 94207021 RISN_ABCR:c.4539+1G>T - ABCR:c.4539+1G>T chr1 94199380 94199382 RISN_ABCR:c.4773+48C>T - ABCR:c.4773+48C>T#insertion in reference# chr1 94188575 94188576 RISN_ABCR:c.5585-70T>C - ABCR:c.5585-70T>C chr1 94185821 94185822 RISN_ABCR:c.5888delG - ABCR:c.5888delG chr1 94185298 94185299 RISN_ABCR:c.5917delG - ABCR:c.5917delG chr1 94298570 94298571 RISN_ABCR:c.52C>T - ABCR:c.52C>T chr1 94290639 94290640 RISN_ABCR:c.70C>T - ABCR:c.70C>T chr1 94289122 94289123 RISN_ABCR:c.194G>A - ABCR:c.194G>A chr1 94289066 94289068 RISN_ABCR:c.249_250insCAAA - ABCR:c.249_250insCAAA chr1 94280680 94280681 RISN_ABCR:c.481G>A - ABCR:c.481G>A chr1 94276370 94276371 RISN_ABCR:c.768G>T - ABCR:c.768G>T chr1 94258087 94258088 RISN_ABCR:c.1066A>T - ABCR:c.1066A>T chr1 94240826 94240827 RISN_ABCR:c.1622T>C - ABCR:c.1622T>C chr1 94240301 94240302 RISN_ABCR:c.1789C>T - ABCR:c.1789C>T chr1 94240237 94240238 RISN_ABCR:c.1853G>A - ABCR:c.1853G>A chr1 94234259 94234260 RISN_ABCR:c.2300T>A - ABCR:c.2300T>A chr1 94229286 94229287 RISN_ABCR:c.2588-12C>G - ABCR:c.2588-12C>G chr1 94221017 94221018 RISN_ABCR:c.3085C>T - ABCR:c.3085C>T chr1 94220406 94220407 RISN_ABCR:c.3259G>A - ABCR:c.3259G>A chr1 94218943 94218944 RISN_ABCR:c.3364G>A - ABCR:c.3364G>A chr1 94214315 94214316 RISN_ABCR:c.3862+1G>A - ABCR:c.3862+1G>A chr1 94209446 94209448 RISN_ABCR:c.4035_4036dupCA - ABCR:c.4035_4036dupCA chr1 94207091 94207092 RISN_ABCR:c.4469G>A - ABCR:c.4469G>A chr1 94207022 94207024 RISN_ABCR:c.4537_4538insC - ABCR:c.4537_4538insC chr1 94198915 94198916 RISN_ABCR:c.4919G>A - ABCR:c.4919G>A chr1 94198916 94198917 RISN_ABCR:c.4918C>T - ABCR:c.4918C>T chr1 94197156 94197157 RISN_ABCR:c.5196+2T>C - ABCR:c.5196+2T>C chr1 94192198 94192199 RISN_ABCR:c.5381C>A - ABCR:c.5381C>A chr1 94188971 94188972 RISN_ABCR:c.5461-10T>C - ABCR:c.5461-10T>C chr1 94188371 94188372 RISN_ABCR:c.5714+5G>A - ABCR:c.5714+5G>A chr1 94183085 94183086 RISN_ABCR:c.6079C>T - ABCR:c.6079C>T chr1 94175564 94175566 RISN_ABCR:c.6601_6602delAG - ABCR:c.6601_6602delAG chr1 94298590 94298591 RISN_ABCR:c.32T>C - ABCR:c.32T>C chr1 94290587 94290588 RISN_ABCR:c.122G>A - ABCR:c.122G>A chr1 94289155 94289156 RISN_ABCR:c.161G>T - ABCR:c.161G>T chr1 94289138 94289139 RISN_ABCR:c.178G>A - ABCR:c.178G>A chr1 94289113 94289114 RISN_ABCR:c.203C>T - ABCR:c.203C>T chr1 94289102 94289103 RISN_ABCR:c.214G>A - ABCR:c.214G>A chr1 94289020 94289021 RISN_ABCR:c.296dupA - ABCR:c.296dupA chr1 94289013 94289014 RISN_ABCR:c.302+1G>A - ABCR:c.302+1G>A chr1 94276460 94276473 RISN_ABCR:c.666_678del - ABCR:c.666_678del chr1 94276460 94276472 RISN_ABCR:c.667_678del - ABCR:c.667_678del chr1 94276458 94276472 RISN_ABCR:c.667_680del - ABCR:c.667_680del chr1 94276467 94276468 RISN_ABCR:c.671delC - ABCR:c.671delC chr1 94276407 94276409 RISN_ABCR:c.730_731delCT - ABCR:c.730_731delCT chr1 94276398 94276399 RISN_ABCR:c.740A>T - ABCR:c.740A>T chr1 94276398 94276399 RISN_ABCR:c.740A>G - ABCR:c.740A>G chr1 94276375 94276376 RISN_ABCR:c.763C>G - ABCR:c.763C>G chr1 94258171 94258172 RISN_ABCR:c.982G>T - ABCR:c.982G>T chr1 94258170 94258171 RISN_ABCR:c.983A>T - ABCR:c.983A>T chr1 94258138 94258139 RISN_ABCR:c.1015T>G - ABCR:c.1015T>G chr1 94258115 94258129 RISN_ABCR:c.1025_1038del - ABCR:c.1025_1038del chr1 94258117 94258118 RISN_ABCR:c.1036A>T - ABCR:c.1036A>T chr1 94258116 94258117 RISN_ABCR:c.1037A>C - ABCR:c.1037A>C chr1 94258067 94258068 RISN_ABCR:c.1086T>G - ABCR:c.1086T>G chr1 94256254 94256255 RISN_ABCR:c.1268A>C - ABCR:c.1268A>C chr1 94256205 94256206 RISN_ABCR:c.1317G>A - ABCR:c.1317G>A chr1 94256197 94256198 RISN_ABCR:c.1325T>C - ABCR:c.1325T>C chr1 94255306 94255315 RISN_ABCR:c.1506_1514del - ABCR:c.1506_1514del chr1 94255265 94255266 RISN_ABCR:c.1554+1G>A - ABCR:c.1554+1G>A chr1 94240894 94240895 RISN_ABCR:c.1555-1G>A - ABCR:c.1555-1G>A chr1 94240838 94240839 RISN_ABCR:c.1610G>A - ABCR:c.1610G>A chr1 94240789 94240790 RISN_ABCR:c.1659C>G - ABCR:c.1659C>G chr1 94240292 94240293 RISN_ABCR:c.1798G>T - ABCR:c.1798G>T chr1 94240268 94240269 RISN_ABCR:c.1822T>C - ABCR:c.1822T>C chr1 94240267 94240268 RISN_ABCR:c.1823T>A - ABCR:c.1823T>A chr1 94240187 94240188 RISN_ABCR:c.1903C>A - ABCR:c.1903C>A chr1 94240182 94240183 RISN_ABCR:c.1908G>T - ABCR:c.1908G>T chr1 94240173 94240174 RISN_ABCR:c.1917C>T - ABCR:c.1917C>T chr1 94240152 94240153 RISN_ABCR:c.1937+1G>A - ABCR:c.1937+1G>A chr1 94238216 94238217 RISN_ABCR:c.2057T>C - ABCR:c.2057T>C chr1 94234267 94234268 RISN_ABCR:c.2292delT - ABCR:c.2292delT chr1 94234264 94234265 RISN_ABCR:c.2295T>G - ABCR:c.2295T>G chr1 94232864 94232866 RISN_ABCR:c.2409_2410delAT - ABCR:c.2409_2410delAT chr1 94232710 94232711 RISN_ABCR:c.2564G>A - ABCR:c.2564G>A chr1 94232704 94232705 RISN_ABCR:c.2570delT - ABCR:c.2570delT chr1 94229245 94229247 RISN_ABCR:c.2616_2617delCT - ABCR:c.2616_2617delCT chr1 94226484 94226485 RISN_ABCR:c.2703A>T - ABCR:c.2703A>T chr1 94224587 94224588 RISN_ABCR:c.2826delC - ABCR:c.2826delC chr1 94224537 94224538 RISN_ABCR:c.2876C>T - ABCR:c.2876C>T chr1 94224527 94224528 RISN_ABCR:c.2886delG - ABCR:c.2886delG chr1 94222291 94222292 RISN_ABCR:c.2948C>T - ABCR:c.2948C>T chr1 94222268 94222269 RISN_ABCR:c.2971G>C - ABCR:c.2971G>C chr1 94220939 94220940 RISN_ABCR:c.3163C>T - ABCR:c.3163C>T chr1 94220915 94220916 RISN_ABCR:c.3187T>C - ABCR:c.3187T>C chr1 94220911 94220912 RISN_ABCR:c.3190+1G>T - ABCR:c.3190+1G>T chr1 94220476 94220477 RISN_ABCR:c.3191-2A>G - ABCR:c.3191-2A>G chr1 94220404 94220405 RISN_ABCR:c.3261A>C - ABCR:c.3261A>C chr1 94220393 94220394 RISN_ABCR:c.3272G>A - ABCR:c.3272G>A chr1 94220387 94220388 RISN_ABCR:c.3278A>G - ABCR:c.3278A>G chr1 94220362 94220363 RISN_ABCR:c.3303G>A - ABCR:c.3303G>A chr1 94220342 94220343 RISN_ABCR:c.3323G>T - ABCR:c.3323G>T chr1 94218869 94218870 RISN_ABCR:c.3438delC - ABCR:c.3438delC chr1 94217698 94217700 RISN_ABCR:c.3527_3528insTGCA - ABCR:c.3527_3528insTGCA chr1 94217618 94217619 RISN_ABCR:c.3607+1G>A - ABCR:c.3607+1G>A chr1 94214831 94214832 RISN_ABCR:c.3703A>G - ABCR:c.3703A>G chr1 94214780 94214781 RISN_ABCR:c.3754G>T - ABCR:c.3754G>T chr1 94214776 94214777 RISN_ABCR:c.3758C>T - ABCR:c.3758C>T chr1 94214726 94214727 RISN_ABCR:c.3808G>T - ABCR:c.3808G>T chr1 94214363 94214364 RISN_ABCR:c.3815dupT - ABCR:c.3815dupT chr1 94209608 94209609 RISN_ABCR:c.3874C>T - ABCR:c.3874C>T chr1 94209584 94209585 RISN_ABCR:c.3898C>T - ABCR:c.3898C>T chr1 94209488 94209489 RISN_ABCR:c.3994C>T - ABCR:c.3994C>T chr1 94209409 94209410 RISN_ABCR:c.4073T>C - ABCR:c.4073T>C chr1 94208656 94208657 RISN_ABCR:c.4169T>C - ABCR:c.4169T>C chr1 94208104 94208105 RISN_ABCR:c.4254-2A>G - ABCR:c.4254-2A>G chr1 94208070 94208071 RISN_ABCR:c.4286T>C - ABCR:c.4286T>C chr1 94208038 94208039 RISN_ABCR:c.4318T>G - ABCR:c.4318T>G chr1 94207124 94207125 RISN_ABCR:c.4436G>A - ABCR:c.4436G>A chr1 94207097 94207098 RISN_ABCR:c.4463G>A - ABCR:c.4463G>A chr1 94202626 94202627 RISN_ABCR:c.4540-2A>G - ABCR:c.4540-2A>G chr1 94200960 94200961 RISN_ABCR:c.4667+2T>C - ABCR:c.4667+2T>C chr1 94199488 94199489 RISN_ABCR:c.4707delC - ABCR:c.4707delC chr1 94199420 94199421 RISN_ABCR:c.4773+2T>C - ABCR:c.4773+2T>C chr1 94199226 94199227 RISN_ABCR:c.4838delA - ABCR:c.4838delA chr1 94198980 94198981 RISN_ABCR:c.4854G>A - ABCR:c.4854G>A chr1 94198959 94198960 RISN_ABCR:c.4875T>A - ABCR:c.4875T>A chr1 94198908 94198909 RISN_ABCR:c.4926C>G - ABCR:c.4926C>G chr1 94198835 94198836 RISN_ABCR:c.4999C>A - ABCR:c.4999C>A chr1 94198814 94198815 RISN_ABCR:c.5018+2T>A - ABCR:c.5018+2T>A chr1 94197298 94197299 RISN_ABCR:c.5056G>A - ABCR:c.5056G>A chr1 94197289 94197290 RISN_ABCR:c.5065T>C - ABCR:c.5065T>C chr1 94197240 94197241 RISN_ABCR:c.5114G>T - ABCR:c.5114G>T chr1 94197193 94197195 RISN_ABCR:c.5160_5161delCA - ABCR:c.5160_5161delCA chr1 94197154 94197158 RISN_ABCR:c.5196+1_5196+4del - ABCR:c.5196+1_5196+4del chr1 94197152 94197158 RISN_ABCR:c.5196+1_5196+6del - ABCR:c.5196+1_5196+6del chr1 94197156 94197157 RISN_ABCR:c.5196+2T>G - ABCR:c.5196+2T>G chr1 94193385 94193386 RISN_ABCR:c.5242G>A - ABCR:c.5242G>A chr1 94193379 94193380 RISN_ABCR:c.5248C>T - ABCR:c.5248C>T chr1 94193341 94193350 RISN_ABCR:c.5278_5286del - ABCR:c.5278_5286del chr1 94193339 94193340 RISN_ABCR:c.5288T>C - ABCR:c.5288T>C chr1 94192242 94192243 RISN_ABCR:c.5337C>A - ABCR:c.5337C>A chr1 94192166 94192167 RISN_ABCR:c.5413A>G - ABCR:c.5413A>G chr1 94192118 94192119 RISN_ABCR:c.5460+1G>A - ABCR:c.5460+1G>A chr1 94188910 94188911 RISN_ABCR:c.5512C>G - ABCR:c.5512C>G chr1 94188515 94188516 RISN_ABCR:c.5585-10T>C - ABCR:c.5585-10T>C chr1 94188437 94188438 RISN_ABCR:c.5653G>A - ABCR:c.5653G>A chr1 94186401 94186402 RISN_ABCR:c.5761G>A - ABCR:c.5761G>A chr1 94186343 94186344 RISN_ABCR:c.5819T>C - ABCR:c.5819T>C chr1 94185303 94185304 RISN_ABCR:c.5912T>G - ABCR:c.5912T>G chr1 94185301 94185302 RISN_ABCR:c.5914G>A - ABCR:c.5914G>A chr1 94185292 94185293 RISN_ABCR:c.5923G>C - ABCR:c.5923G>C chr1 94185279 94185280 RISN_ABCR:c.5936C>T - ABCR:c.5936C>T chr1 94183046 94183047 RISN_ABCR:c.6118C>T - ABCR:c.6118C>T chr1 94179537 94179538 RISN_ABCR:c.6179T>G - ABCR:c.6179T>G chr1 94179526 94179527 RISN_ABCR:c.6190G>C - ABCR:c.6190G>C chr1 94179487 94179488 RISN_ABCR:c.6229C>G - ABCR:c.6229C>G chr1 94179477 94179479 RISN_ABCR:c.6238_6239delTC - ABCR:c.6238_6239delTC chr1 94179440 94179441 RISN_ABCR:c.6276G>A - ABCR:c.6276G>A chr1 94178644 94178645 RISN_ABCR:c.6320G>C - ABCR:c.6320G>C chr1 94178635 94178636 RISN_ABCR:c.6329G>A - ABCR:c.6329G>A chr1 94178576 94178577 RISN_ABCR:c.6386+2C>G - ABCR:c.6386+2C>G chr1 94178454 94178455 RISN_ABCR:c.6437G>A - ABCR:c.6437G>A chr1 94175557 94175558 RISN_ABCR:c.6609C>A - ABCR:c.6609C>A chr1 94175508 94175509 RISN_ABCR:c.6658C>T - ABCR:c.6658C>T chr1 94175456 94175458 RISN_ABCR:c.6709_6710insA - ABCR:c.6709_6710insA chr1 94173688 94173689 RISN_ABCR:c.6813C>T - ABCR:c.6813C>T chr1 94290568 94290569 RISN_ABCR:c.141G>A - ABCR:c.141G>A chr1 94289200 94289201 RISN_ABCR:c.161-45G>T - ABCR:c.161-45G>T chr1 94289082 94289083 RISN_ABCR:c.234C>T - ABCR:c.234C>T chr1 94288994 94288995 RISN_ABCR:c.302+20C>T - ABCR:c.302+20C>T chr1 94288988 94288989 RISN_ABCR:c.302+26A>G - ABCR:c.302+26A>G chr1 94286363 94286364 RISN_ABCR:c.303-71delA - ABCR:c.303-71delA chr1 94276596 94276597 RISN_ABCR:c.571-29G>T - ABCR:c.571-29G>T chr1 94276503 94276504 RISN_ABCR:c.635G>A - ABCR:c.635G>A chr1 94261049 94261050 RISN_ABCR:c.769-32T>C - ABCR:c.769-32T>C chr1 94258305 94258306 RISN_ABCR:c.859-11C>T - ABCR:c.859-11C>T chr1 94258280 94258281 RISN_ABCR:c.873G>A - ABCR:c.873G>A chr1 94258225 94258226 RISN_ABCR:c.928G>C - ABCR:c.928G>C chr1 94258220 94258221 RISN_ABCR:c.933C>T - ABCR:c.933C>T chr1 94258172 94258173 RISN_ABCR:c.981C>T - ABCR:c.981C>T chr1 94258164 94258165 RISN_ABCR:c.989G>A - ABCR:c.989G>A chr1 94257051 94257052 RISN_ABCR:c.1100-14T>C - ABCR:c.1100-14T>C chr1 94256296 94256297 RISN_ABCR:c.1240-14C>T - ABCR:c.1240-14C>T chr1 94256274 94256275 RISN_ABCR:c.1248A>C - ABCR:c.1248A>C chr1 94256254 94256255 RISN_ABCR:c.1268A>G - ABCR:c.1268A>G chr1 94256253 94256254 RISN_ABCR:c.1269C>T - ABCR:c.1269C>T chr1 94256156 94256157 RISN_ABCR:c.1356+11delG - ABCR:c.1356+11delG chr1 94256161 94256163 RISN_ABCR:c.1356+5_1356+6insC - ABCR:c.1356+5_1356+6insC#insertion in reference# chr1 94256161 94256162 RISN_ABCR:c.1356+6G>C - ABCR:c.1356+6G>C chr1 94256161 94256163 RISN_ABCR:c.1356+5delG - ABCR:c.1356+5delG#insertion in reference# chr1 94240825 94240826 RISN_ABCR:c.1623A>G - ABCR:c.1623A>G chr1 94240795 94240796 RISN_ABCR:c.1653G>A - ABCR:c.1653G>A chr1 94240666 94240667 RISN_ABCR:c.1760+22G>T - ABCR:c.1760+22G>T chr1 94240366 94240367 RISN_ABCR:c.1761-37G>A - ABCR:c.1761-37G>A chr1 94240379 94240380 RISN_ABCR:c.1761-50G>A - ABCR:c.1761-50G>A chr1 94240383 94240384 RISN_ABCR:c.1761-54G>A - ABCR:c.1761-54G>A chr1 94240212 94240213 RISN_ABCR:c.1878G>A - ABCR:c.1878G>A chr1 94240162 94240163 RISN_ABCR:c.1928T>G - ABCR:c.1928T>G chr1 94238146 94238147 RISN_ABCR:c.2127G>A - ABCR:c.2127G>A chr1 94232901 94232902 RISN_ABCR:c.2383-10C>G - ABCR:c.2383-10C>G chr1 94232738 94232739 RISN_ABCR:c.2536G>C - ABCR:c.2536G>C chr1 94229149 94229150 RISN_ABCR:c.2653+60G>C - ABCR:c.2653+60G>C chr1 94226554 94226555 RISN_ABCR:c.2654-21A>T - ABCR:c.2654-21A>T chr1 94226581 94226582 RISN_ABCR:c.2654-48G>C - ABCR:c.2654-48G>C chr1 94226486 94226487 RISN_ABCR:c.2701A>G - ABCR:c.2701A>G chr1 94224707 94224708 RISN_ABCR:c.2744-38delC - ABCR:c.2744-38delC chr1 94224724 94224725 RISN_ABCR:c.2744-56G>A - ABCR:c.2744-56G>A chr1 94224536 94224537 RISN_ABCR:c.2877C>T - ABCR:c.2877C>T chr1 94222275 94222276 RISN_ABCR:c.2964C>T - ABCR:c.2964C>T chr1 94222247 94222248 RISN_ABCR:c.2992C>T - ABCR:c.2992C>T chr1 94221065 94221066 RISN_ABCR:c.3051-14T>A - ABCR:c.3051-14T>A chr1 94220829 94220830 RISN_ABCR:c.3190+83A>T - ABCR:c.3190+83A>T chr1 94220494 94220495 RISN_ABCR:c.3191-20C>T - ABCR:c.3191-20C>T chr1 94219012 94219013 RISN_ABCR:c.3329-34A>G - ABCR:c.3329-34A>G chr1 94217715 94217716 RISN_ABCR:c.3523-12C>T - ABCR:c.3523-12C>T chr1 94217587 94217588 RISN_ABCR:c.3607+32G>A - ABCR:c.3607+32G>A chr1 94214942 94214943 RISN_ABCR:c.3608-16T>A - ABCR:c.3608-16T>A chr1 94214838 94214839 RISN_ABCR:c.3696T>G - ABCR:c.3696T>G chr1 94209542 94209543 RISN_ABCR:c.3940C>A - ABCR:c.3940C>A chr1 94208731 94208732 RISN_ABCR:c.4129-35A>T - ABCR:c.4129-35A>T chr1 94208767 94208768 RISN_ABCR:c.4129-71A>T - ABCR:c.4129-71A>T chr1 94208641 94208642 RISN_ABCR:c.4184T>C - ABCR:c.4184T>C chr1 94208622 94208623 RISN_ABCR:c.4203C>A - ABCR:c.4203C>A chr1 94208568 94208569 RISN_ABCR:c.4253+4C>T - ABCR:c.4253+4C>T chr1 94208529 94208530 RISN_ABCR:c.4253+43G>A - ABCR:c.4253+43G>A chr1 94208140 94208141 RISN_ABCR:c.4254-38G>A - ABCR:c.4254-38G>A chr1 94208149 94208150 RISN_ABCR:c.4254-47T>C - ABCR:c.4254-47T>C chr1 94207973 94207974 RISN_ABCR:c.4352+32G>A - ABCR:c.4352+32G>A chr1 94207991 94207992 RISN_ABCR:c.4352+13G>A - ABCR:c.4352+13G>A chr1 94207054 94207055 RISN_ABCR:c.4506C>T - ABCR:c.4506C>T chr1 94206986 94206987 RISN_ABCR:c.4539+35G>C - ABCR:c.4539+35G>C chr1 94206981 94206982 RISN_ABCR:c.4539+40C>T - ABCR:c.4539+40C>T chr1 94207018 94207019 RISN_ABCR:c.4539+3A>G - ABCR:c.4539+3A>G chr1 94207000 94207001 RISN_ABCR:c.4539+21delG - ABCR:c.4539+21delG chr1 94199565 94199566 RISN_ABCR:c.4668-38C>T - ABCR:c.4668-38C>T chr1 94199542 94199543 RISN_ABCR:c.4668-15C>T - ABCR:c.4668-15C>T chr1 94199449 94199450 RISN_ABCR:c.4746C>T - ABCR:c.4746C>T chr1 94198925 94198926 RISN_ABCR:c.4909G>A - ABCR:c.4909G>A chr1 94197367 94197368 RISN_ABCR:c.5019-32G>A - ABCR:c.5019-32G>A chr1 94197138 94197139 RISN_ABCR:c.5196+20G>A - ABCR:c.5196+20G>A chr1 94193270 94193271 RISN_ABCR:c.5312+45G>T - ABCR:c.5312+45G>T chr1 94189011 94189013 RISN_ABCR:c.5461-50_5461-51insG - ABCR:c.5461-50_5461-51insG chr1 94188999 94189000 RISN_ABCR:c.5461-38delT - ABCR:c.5461-38delT chr1 94189013 94189014 RISN_ABCR:c.5461-52delG - ABCR:c.5461-52delG chr1 94189010 94189012 RISN_ABCR:c.5461-49_5461-50insA - ABCR:c.5461-49_5461-50insA chr1 94188821 94188833 RISN_ABCR:c.5584+6_5584+17delins11 - ABCR:c.5584+6_5584+17delins11 chr1 94188522 94188523 RISN_ABCR:c.5585-17T>A - ABCR:c.5585-17T>A chr1 94188487 94188488 RISN_ABCR:c.5603A>T - ABCR:c.5603A>T chr1 94188408 94188409 RISN_ABCR:c.5682G>C - ABCR:c.5682G>C chr1 94186472 94186473 RISN_ABCR:c.5715-25A>C - ABCR:c.5715-25A>C chr1 94186348 94186349 RISN_ABCR:c.5814A>G - ABCR:c.5814A>G chr1 94185916 94185917 RISN_ABCR:c.5836-40C>A - ABCR:c.5836-40C>A chr1 94185888 94185890 RISN_ABCR:c.5836-15_5836-16insT - ABCR:c.5836-15_5836-16insT chr1 94185884 94185885 RISN_ABCR:c.5836-11G>A - ABCR:c.5836-11G>A chr1 94185910 94185914 RISN_ABCR:c.5836-36_5836-37insTC - ABCR:c.5836-36_5836-37insTC chr1 94185898 94185899 RISN_ABCR:c.5836-24A>G - ABCR:c.5836-24A>G chr1 94185866 94185867 RISN_ABCR:c.5843C>T - ABCR:c.5843C>T chr1 94185865 94185866 RISN_ABCR:c.5844G>A - ABCR:c.5844G>A chr1 94185841 94185842 RISN_ABCR:c.5868C>T - ABCR:c.5868C>T chr1 94185823 94185824 RISN_ABCR:c.5886T>C - ABCR:c.5886T>C chr1 94185263 94185265 RISN_ABCR:c.5951_5952delinsCA - ABCR:c.5951_5952delinsCA chr1 94185209 94185210 RISN_ABCR:c.6005+1G>T - ABCR:c.6005+1G>T chr1 94183174 94183175 RISN_ABCR:c.6006-16G>A - ABCR:c.6006-16G>A chr1 94183095 94183096 RISN_ABCR:c.6069C>T - ABCR:c.6069C>T chr1 94183088 94183089 RISN_ABCR:c.6076C>T - ABCR:c.6076C>T chr1 94179467 94179468 RISN_ABCR:c.6249C>T - ABCR:c.6249C>T chr1 94179461 94179462 RISN_ABCR:c.6255C>T - ABCR:c.6255C>T chr1 94179427 94179428 RISN_ABCR:c.6282+7G>A - ABCR:c.6282+7G>A chr1 94178679 94178680 RISN_ABCR:c.6285T>C - ABCR:c.6285T>C chr1 94178622 94178623 RISN_ABCR:c.6342G>A - ABCR:c.6342G>A chr1 94175473 94175474 RISN_ABCR:c.6693C>T - ABCR:c.6693C>T chr1 94175445 94175446 RISN_ABCR:c.6721C>G - ABCR:c.6721C>G chr1 94175416 94175417 RISN_ABCR:c.6729+21C>T - ABCR:c.6729+21C>T chr1 94173774 94173775 RISN_ABCR:c.6730-3T>C - ABCR:c.6730-3T>C chr1 94173798 94173799 RISN_ABCR:c.6730-27C>G - ABCR:c.6730-27C>G chr1 94173769 94173770 RISN_ABCR:c.6732G>A - ABCR:c.6732G>A chr1 94298621 94298622 RISN_ABCR:c.1A>G - ABCR:c.1A>G chr1 94298576 94298585 RISN_ABCR:c.38_46del - ABCR:c.38_46del chr1 94298577 94298578 RISN_ABCR:c.45G>A - ABCR:c.45G>A chr1 94290638 94290639 RISN_ABCR:c.71G>A - ABCR:c.71G>A chr1 94290603 94290604 RISN_ABCR:c.106delT - ABCR:c.106delT chr1 94290548 94290549 RISN_ABCR:c.160+1G>A - ABCR:c.160+1G>A chr1 94289155 94289156 RISN_ABCR:c.161G>A - ABCR:c.161G>A chr1 94289142 94289143 RISN_ABCR:c.174C>G - ABCR:c.174C>G chr1 94289137 94289138 RISN_ABCR:c.179C>T - ABCR:c.179C>T chr1 94289113 94289114 RISN_ABCR:c.203C>G - ABCR:c.203C>G chr1 94289093 94289094 RISN_ABCR:c.223T>G - ABCR:c.223T>G chr1 94289086 94289087 RISN_ABCR:c.230T>A - ABCR:c.230T>A chr1 94289066 94289070 RISN_ABCR:c.247_250delCAAA - ABCR:c.247_250delCAAA chr1 94289030 94289031 RISN_ABCR:c.286A>G - ABCR:c.286A>G chr1 94289030 94289031 RISN_ABCR:c.286A>C - ABCR:c.286A>C chr1 94289018 94289019 RISN_ABCR:c.298T>C - ABCR:c.298T>C chr1 94286271 94286272 RISN_ABCR:c.324dupT - ABCR:c.324dupT chr1 94286167 94286168 RISN_ABCR:c.428C>T - ABCR:c.428C>T chr1 94280707 94280708 RISN_ABCR:c.454C>T - ABCR:c.454C>T chr1 94280706 94280707 RISN_ABCR:c.455G>A - ABCR:c.455G>A chr1 94280695 94280696 RISN_ABCR:c.466A>G - ABCR:c.466A>G chr1 94280647 94280648 RISN_ABCR:c.514G>A - ABCR:c.514G>A chr1 94280591 94280592 RISN_ABCR:c.570G>C - ABCR:c.570G>C chr1 94276569 94276570 RISN_ABCR:c.571-2A>G - ABCR:c.571-2A>G chr1 94276568 94276569 RISN_ABCR:c.571-1G>T - ABCR:c.571-1G>T chr1 94276564 94276565 RISN_ABCR:c.574G>A - ABCR:c.574G>A chr1 94276520 94276521 RISN_ABCR:c.618C>G - ABCR:c.618C>G chr1 94276482 94276483 RISN_ABCR:c.656G>C - ABCR:c.656G>C chr1 94276480 94276481 RISN_ABCR:c.658C>T - ABCR:c.658C>T chr1 94276477 94276478 RISN_ABCR:c.661delG - ABCR:c.661delG chr1 94276462 94276475 RISN_ABCR:c.664_676del - ABCR:c.664_676del chr1 94276462 94276473 RISN_ABCR:c.666_676del - ABCR:c.666_676del chr1 94276407 94276408 RISN_ABCR:c.731T>C - ABCR:c.731T>C chr1 94276392 94276393 RISN_ABCR:c.746A>G - ABCR:c.746A>G chr1 94261018 94261019 RISN_ABCR:c.769-1G>T - ABCR:c.769-1G>T chr1 94260954 94260955 RISN_ABCR:c.832delT - ABCR:c.832delT chr1 94258254 94258255 RISN_ABCR:c.899C>A - ABCR:c.899C>A chr1 94258227 94258228 RISN_ABCR:c.926C>G - ABCR:c.926C>G chr1 94258156 94258157 RISN_ABCR:c.997C>T - ABCR:c.997C>T chr1 94258146 94258147 RISN_ABCR:c.1007C>G - ABCR:c.1007C>G chr1 94258135 94258136 RISN_ABCR:c.1018T>G - ABCR:c.1018T>G chr1 94256997 94256998 RISN_ABCR:c.1140T>A - ABCR:c.1140T>A chr1 94256915 94256916 RISN_ABCR:c.1222C>T - ABCR:c.1222C>T chr1 94256250 94256251 RISN_ABCR:c.1272T>C - ABCR:c.1272T>C chr1 94256187 94256188 RISN_ABCR:c.1335C>G - ABCR:c.1335C>G chr1 94256181 94256182 RISN_ABCR:c.1341delG - ABCR:c.1341delG chr1 94256178 94256179 RISN_ABCR:c.1344delG - ABCR:c.1344delG chr1 94255432 94255434 RISN_ABCR:c.1387_1388delTT - ABCR:c.1387_1388delTT chr1 94255303 94255308 RISN_ABCR:c.1513_1517delATCAC - ABCR:c.1513_1517delATCAC chr1 94255294 94255295 RISN_ABCR:c.1526delC - ABCR:c.1526delC chr1 94240879 94240880 RISN_ABCR:c.1569T>G - ABCR:c.1569T>G chr1 94240873 94240874 RISN_ABCR:c.1575T>G - ABCR:c.1575T>G chr1 94240839 94240840 RISN_ABCR:c.1609C>T - ABCR:c.1609C>T chr1 94240803 94240804 RISN_ABCR:c.1645G>C - ABCR:c.1645G>C chr1 94240800 94240801 RISN_ABCR:c.1648G>A - ABCR:c.1648G>A chr1 94240733 94240734 RISN_ABCR:c.1715G>A - ABCR:c.1715G>A chr1 94240733 94240734 RISN_ABCR:c.1715G>C - ABCR:c.1715G>C chr1 94240286 94240287 RISN_ABCR:c.1804C>T - ABCR:c.1804C>T chr1 94240285 94240286 RISN_ABCR:c.1805G>A - ABCR:c.1805G>A chr1 94240279 94240280 RISN_ABCR:c.1811T>G - ABCR:c.1811T>G chr1 94240271 94240272 RISN_ABCR:c.1819G>T - ABCR:c.1819G>T chr1 94240271 94240272 RISN_ABCR:c.1819G>A - ABCR:c.1819G>A chr1 94240196 94240197 RISN_ABCR:c.1894delA - ABCR:c.1894delA chr1 94240187 94240188 RISN_ABCR:c.1903C>T - ABCR:c.1903C>T chr1 94240173 94240174 RISN_ABCR:c.1917C>A - ABCR:c.1917C>A chr1 94240168 94240169 RISN_ABCR:c.1922G>C - ABCR:c.1922G>C chr1 94240163 94240164 RISN_ABCR:c.1927G>A - ABCR:c.1927G>A chr1 94240157 94240158 RISN_ABCR:c.1933G>A - ABCR:c.1933G>A chr1 94240151 94240152 RISN_ABCR:c.1937+2T>C - ABCR:c.1937+2T>C chr1 94238316 94238317 RISN_ABCR:c.1957C>T - ABCR:c.1957C>T chr1 94238284 94238285 RISN_ABCR:c.1989G>A - ABCR:c.1989G>A chr1 94238267 94238269 RISN_ABCR:c.2005_2006delAT - ABCR:c.2005_2006delAT chr1 94238232 94238233 RISN_ABCR:c.2041C>T - ABCR:c.2041C>T chr1 94238183 94238184 RISN_ABCR:c.2090G>A - ABCR:c.2090G>A chr1 94238174 94238175 RISN_ABCR:c.2099G>A - ABCR:c.2099G>A chr1 94238126 94238127 RISN_ABCR:c.2147C>T - ABCR:c.2147C>T chr1 94238112 94238113 RISN_ABCR:c.2160+1G>C - ABCR:c.2160+1G>C chr1 94234268 94234269 RISN_ABCR:c.2291G>A - ABCR:c.2291G>A chr1 94234265 94234266 RISN_ABCR:c.2294G>A - ABCR:c.2294G>A chr1 94234222 94234223 RISN_ABCR:c.2337C>A - ABCR:c.2337C>A chr1 94232874 94232890 RISN_ABCR:c.2385_2400del - ABCR:c.2385_2400del chr1 94232884 94232885 RISN_ABCR:c.2390T>C - ABCR:c.2390T>C chr1 94232813 94232814 RISN_ABCR:c.2461T>A - ABCR:c.2461T>A chr1 94232802 94232803 RISN_ABCR:c.2472C>T - ABCR:c.2472C>T chr1 94232728 94232729 RISN_ABCR:c.2546T>C - ABCR:c.2546T>C chr1 94232722 94232723 RISN_ABCR:c.2552G>A - ABCR:c.2552G>A chr1 94232714 94232715 RISN_ABCR:c.2560G>A - ABCR:c.2560G>A chr1 94232709 94232710 RISN_ABCR:c.2565G>A - ABCR:c.2565G>A chr1 94232686 94232687 RISN_ABCR:c.2587+1G>A - ABCR:c.2587+1G>A chr1 94229245 94229246 RISN_ABCR:c.2617T>C - ABCR:c.2617T>C chr1 94226497 94226498 RISN_ABCR:c.2690C>T - ABCR:c.2690C>T chr1 94226495 94226496 RISN_ABCR:c.2692G>A - ABCR:c.2692G>A chr1 94226484 94226485 RISN_ABCR:c.2703A>G - ABCR:c.2703A>G chr1 94224622 94224623 RISN_ABCR:c.2791G>A - ABCR:c.2791G>A chr1 94224609 94224610 RISN_ABCR:c.2804T>C - ABCR:c.2804T>C chr1 94224593 94224594 RISN_ABCR:c.2820C>G - ABCR:c.2820C>G chr1 94224586 94224587 RISN_ABCR:c.2827C>T - ABCR:c.2827C>T chr1 94224553 94224554 RISN_ABCR:c.2860T>G - ABCR:c.2860T>G chr1 94224543 94224544 RISN_ABCR:c.2870A>G - ABCR:c.2870A>G chr1 94224520 94224521 RISN_ABCR:c.2893A>G - ABCR:c.2893A>G chr1 94224501 94224502 RISN_ABCR:c.2912C>A - ABCR:c.2912C>A chr1 94224498 94224499 RISN_ABCR:c.2915C>A - ABCR:c.2915C>A chr1 94222319 94222320 RISN_ABCR:c.2920T>C - ABCR:c.2920T>C chr1 94222307 94222308 RISN_ABCR:c.2932G>T - ABCR:c.2932G>T chr1 94220337 94222321 RISN_ABCR:c.(?_2919)_(3328_?)del - ABCR:c.(?_2919)_(3328_?)del chr1 94222306 94222307 RISN_ABCR:c.2933G>A - ABCR:c.2933G>A chr1 94222273 94222274 RISN_ABCR:c.2966T>C - ABCR:c.2966T>C chr1 94222268 94222269 RISN_ABCR:c.2971G>T - ABCR:c.2971G>T chr1 94222255 94222263 RISN_ABCR:c.2977_2984del - ABCR:c.2977_2984del chr1 94222198 94222199 RISN_ABCR:c.3041T>G - ABCR:c.3041T>G chr1 94221047 94221048 RISN_ABCR:c.3055A>G - ABCR:c.3055A>G chr1 94221045 94221046 RISN_ABCR:c.3057G>T - ABCR:c.3057G>T chr1 94221038 94221039 RISN_ABCR:c.3064G>A - ABCR:c.3064G>A chr1 94221011 94221012 RISN_ABCR:c.3091A>G - ABCR:c.3091A>G chr1 94220996 94220997 RISN_ABCR:c.3106G>A - ABCR:c.3106G>A chr1 94220953 94220954 RISN_ABCR:c.3149G>A - ABCR:c.3149G>A chr1 94220459 94220461 RISN_ABCR:c.3205_3206dupAA - ABCR:c.3205_3206dupAA chr1 94220454 94220456 RISN_ABCR:c.3210_3211insGT - ABCR:c.3210_3211insGT chr1 94220453 94220454 RISN_ABCR:c.3212C>T - ABCR:c.3212C>T chr1 94220449 94220450 RISN_ABCR:c.3216T>C - ABCR:c.3216T>C chr1 94220374 94220375 RISN_ABCR:c.3291A>G - ABCR:c.3291A>G chr1 94220370 94220371 RISN_ABCR:c.3295T>C - ABCR:c.3295T>C chr1 94220343 94220344 RISN_ABCR:c.3322C>T - ABCR:c.3322C>T chr1 94220342 94220343 RISN_ABCR:c.3323G>A - ABCR:c.3323G>A chr1 94218972 94218973 RISN_ABCR:c.3335C>A - ABCR:c.3335C>A chr1 94218941 94218942 RISN_ABCR:c.3366G>C - ABCR:c.3366G>C chr1 94218915 94218916 RISN_ABCR:c.3392delC - ABCR:c.3392delC chr1 94217695 94217696 RISN_ABCR:c.3531C>A - ABCR:c.3531C>A chr1 94217624 94217625 RISN_ABCR:c.3602T>G - ABCR:c.3602T>G chr1 94214924 94214925 RISN_ABCR:c.3610G>A - ABCR:c.3610G>A chr1 94214785 94214786 RISN_ABCR:c.3749T>C - ABCR:c.3749T>C chr1 94214338 94214344 RISN_ABCR:c.3835_3840delGATTCT - ABCR:c.3835_3840delGATTCT chr1 94209583 94209584 RISN_ABCR:c.3899G>A - ABCR:c.3899G>A chr1 94208686 94208687 RISN_ABCR:c.4139C>T - ABCR:c.4139C>T chr1 94208662 94208663 RISN_ABCR:c.4163T>C - ABCR:c.4163T>C chr1 94208630 94208631 RISN_ABCR:c.4195G>A - ABCR:c.4195G>A chr1 94208625 94208626 RISN_ABCR:c.4200C>T - ABCR:c.4200C>T chr1 94208609 94208610 RISN_ABCR:c.4216C>T - ABCR:c.4216C>T chr1 94208602 94208603 RISN_ABCR:c.4223G>T - ABCR:c.4223G>T chr1 94208603 94208604 RISN_ABCR:c.4222T>C - ABCR:c.4222T>C chr1 94208593 94208595 RISN_ABCR:c.4231_4232insTATG - ABCR:c.4231_4232insTATG chr1 94208591 94208592 RISN_ABCR:c.4234C>T - ABCR:c.4234C>T chr1 94208567 94208568 RISN_ABCR:c.4253+5G>T - ABCR:c.4253+5G>T chr1 94208571 94208572 RISN_ABCR:c.4253+1G>T - ABCR:c.4253+1G>T chr1 94208040 94208041 RISN_ABCR:c.4316G>A - ABCR:c.4316G>A chr1 94208037 94208038 RISN_ABCR:c.4319T>C - ABCR:c.4319T>C chr1 94208028 94208029 RISN_ABCR:c.4328G>A - ABCR:c.4328G>A chr1 94208010 94208011 RISN_ABCR:c.4346G>A - ABCR:c.4346G>A chr1 94207208 94207209 RISN_ABCR:c.4353-1G>T - ABCR:c.4353-1G>T chr1 94207103 94207104 RISN_ABCR:c.4457C>T - ABCR:c.4457C>T chr1 94207098 94207099 RISN_ABCR:c.4462T>C - ABCR:c.4462T>C chr1 94207097 94207098 RISN_ABCR:c.4463G>T - ABCR:c.4463G>T chr1 94207092 94207093 RISN_ABCR:c.4468T>A - ABCR:c.4468T>A chr1 94207054 94207055 RISN_ABCR:c.4506C>A - ABCR:c.4506C>A chr1 94207025 94207026 RISN_ABCR:c.4535C>G - ABCR:c.4535C>G chr1 94207022 94207023 RISN_ABCR:c.4538A>G - ABCR:c.4538A>G chr1 94202590 94202591 RISN_ABCR:c.4574T>C - ABCR:c.4574T>C chr1 94202587 94202588 RISN_ABCR:c.4577C>T - ABCR:c.4577C>T chr1 94202570 94202571 RISN_ABCR:c.4594G>A - ABCR:c.4594G>A chr1 94202554 94202555 RISN_ABCR:c.4610C>T - ABCR:c.4610C>T chr1 94199447 94199448 RISN_ABCR:c.4748T>C - ABCR:c.4748T>C chr1 94199292 94199293 RISN_ABCR:c.4774-2A>C - ABCR:c.4774-2A>C chr1 94199271 94199272 RISN_ABCR:c.4793C>A - ABCR:c.4793C>A chr1 94198986 94198987 RISN_ABCR:c.4849-1G>C - ABCR:c.4849-1G>C chr1 94198970 94198976 RISN_ABCR:c.4859_4864delins4 - ABCR:c.4859_4864delins4 chr1 94198967 94198968 RISN_ABCR:c.4867G>A - ABCR:c.4867G>A chr1 94198942 94198943 RISN_ABCR:c.4892T>C - ABCR:c.4892T>C chr1 94198890 94198891 RISN_ABCR:c.4944delC - ABCR:c.4944delC chr1 94198880 94198881 RISN_ABCR:c.4954T>G - ABCR:c.4954T>G chr1 94198878 94198879 RISN_ABCR:c.4956T>G - ABCR:c.4956T>G chr1 94198814 94198815 RISN_ABCR:c.5018+2T>C - ABCR:c.5018+2T>C chr1 94197299 94197314 RISN_ABCR:c.5041_5055del - ABCR:c.5041_5055del chr1 94197277 94197278 RISN_ABCR:c.5077G>A - ABCR:c.5077G>A chr1 94197267 94197268 RISN_ABCR:c.5087G>A - ABCR:c.5087G>A chr1 94197247 94197248 RISN_ABCR:c.5107C>G - ABCR:c.5107C>G chr1 94197192 94197194 RISN_ABCR:c.5161_5162delAC - ABCR:c.5161_5162delAC chr1 94197168 94197169 RISN_ABCR:c.5186T>C - ABCR:c.5186T>C chr1 94193421 94193422 RISN_ABCR:c.5206T>C - ABCR:c.5206T>C chr1 94193405 94193416 RISN_ABCR:c.5212_5222del - ABCR:c.5212_5222del chr1 94193395 94193406 RISN_ABCR:c.5222_5232delTGGTGGTGGGC - ABCR:c.5222_5232delTGGTGGTGGGC chr1 94193394 94193405 RISN_ABCR:c.5223_5233del - ABCR:c.5223_5233del chr1 94193338 94193347 RISN_ABCR:c.5281_5289del - ABCR:c.5281_5289del chr1 94192263 94192264 RISN_ABCR:c.5316G>A - ABCR:c.5316G>A chr1 94192251 94192253 RISN_ABCR:c.5327_5328delinsTG - ABCR:c.5327_5328delinsTG chr1 94192242 94192243 RISN_ABCR:c.5337C>G - ABCR:c.5337C>G chr1 94192184 94192185 RISN_ABCR:c.5395A>G - ABCR:c.5395A>G chr1 94192120 94192121 RISN_ABCR:c.5459G>C - ABCR:c.5459G>C chr1 94188910 94188911 RISN_ABCR:c.5512C>T - ABCR:c.5512C>T chr1 94188895 94188896 RISN_ABCR:c.5527C>T - ABCR:c.5527C>T chr1 94188885 94188886 RISN_ABCR:c.5537T>C - ABCR:c.5537T>C chr1 94188833 94188834 RISN_ABCR:c.5584+5G>A - ABCR:c.5584+5G>A chr1 94188832 94188833 RISN_ABCR:c.5584+6T>C - ABCR:c.5584+6T>C chr1 94188506 94188507 RISN_ABCR:c.5585-1G>A - ABCR:c.5585-1G>A chr1 94188446 94188447 RISN_ABCR:c.5644A>G - ABCR:c.5644A>G chr1 94188439 94188440 RISN_ABCR:c.5651T>A - ABCR:c.5651T>A chr1 94188433 94188434 RISN_ABCR:c.5657G>A - ABCR:c.5657G>A chr1 94188420 94188423 RISN_ABCR:c.5668_5670delTTC - ABCR:c.5668_5670delTTC chr1 94188403 94188404 RISN_ABCR:c.5687T>A - ABCR:c.5687T>A chr1 94185875 94185876 RISN_ABCR:c.5836-2delA - ABCR:c.5836-2delA chr1 94185810 94185811 RISN_ABCR:c.5898+1G>T - ABCR:c.5898+1G>T chr1 94185286 94185287 RISN_ABCR:c.5929G>A - ABCR:c.5929G>A chr1 94185251 94185255 RISN_ABCR:c.5961_5964delGGAC - ABCR:c.5961_5964delGGAC chr1 94183075 94183076 RISN_ABCR:c.6089G>A - ABCR:c.6089G>A chr1 94183060 94183061 RISN_ABCR:c.6104T>C - ABCR:c.6104T>C chr1 94183052 94183053 RISN_ABCR:c.6112C>T - ABCR:c.6112C>T chr1 94179550 94179551 RISN_ABCR:c.6166A>T - ABCR:c.6166A>T chr1 94179503 94179504 RISN_ABCR:c.6213C>T - ABCR:c.6213C>T chr1 94179487 94179488 RISN_ABCR:c.6229C>T - ABCR:c.6229C>T chr1 94178678 94178679 RISN_ABCR:c.6286G>A - ABCR:c.6286G>A chr1 94178664 94178665 RISN_ABCR:c.6300delG - ABCR:c.6300delG chr1 94178648 94178649 RISN_ABCR:c.6316C>T - ABCR:c.6316C>T chr1 94178644 94178645 RISN_ABCR:c.6320G>A - ABCR:c.6320G>A chr1 94178625 94178626 RISN_ABCR:c.6339C>G - ABCR:c.6339C>G chr1 94178612 94178613 RISN_ABCR:c.6352delA - ABCR:c.6352delA chr1 94178581 94178582 RISN_ABCR:c.6383A>G - ABCR:c.6383A>G chr1 94178500 94178501 RISN_ABCR:c.6391G>A - ABCR:c.6391G>A chr1 94178476 94178477 RISN_ABCR:c.6415C>T - ABCR:c.6415C>T chr1 94178446 94178447 RISN_ABCR:c.6445C>T - ABCR:c.6445C>T chr1 94178445 94178446 RISN_ABCR:c.6446G>T - ABCR:c.6446G>T chr1 94178443 94178444 RISN_ABCR:c.6448T>C - ABCR:c.6448T>C chr1 94178412 94178413 RISN_ABCR:c.6479A>G - ABCR:c.6479A>G chr1 94175588 94175624 RISN_ABCR:c.6543_6578del - ABCR:c.6543_6578del chr1 94175603 94175604 RISN_ABCR:c.6563T>C - ABCR:c.6563T>C chr1 94175480 94175481 RISN_ABCR:c.6686T>C - ABCR:c.6686T>C chr1 94175452 94175460 RISN_ABCR:c.6707_6714delTCACACAG - ABCR:c.6707_6714delTCACACAG chr1 94175457 94175459 RISN_ABCR:c.6708_6709insG - ABCR:c.6708_6709insG chr1 94175436 94175437 RISN_ABCR:c.6729+1G>A - ABCR:c.6729+1G>A chr1 94173753 94173754 RISN_ABCR:c.6748delA - ABCR:c.6748delA chr1 94173713 94173714 RISN_ABCR:c.6788G>T - ABCR:c.6788G>T chr1 94224585 94224586 RISN_ABCR:c.2828G>A - ABCR:c.2828G>A chr1 94222184 94222185 RISN_ABCR:c.3050+5G>A - ABCR:c.3050+5G>A chr1 94192128 94192129 RISN_ABCR:c.5451T>G - ABCR:c.5451T>G chr1 94173737 94173738 RISN_ABCR:c.6764G>T - ABCR:c.6764G>T chr1 94238336 94238337 RISN_ABCR:c.1938-1G>A - ABCR:c.1938-1G>A chr1 94256917 94256918 RISN_ABCR:c.1220C>T - ABCR:c.1220C>T chr14 20859879 20859880 RISN_RPGRIP:c.1639G>T + RPGRIP:c.1639G>T chr14 20863941 20863942 RISN_RPGRIP:c.2480G>T + RPGRIP:c.2480G>T chr14 20832784 20832785 RISN_RPGRIP:c.195G>A + RPGRIP:c.195G>A chr14 20840506 20840507 RISN_RPGRIP:c.511delT + RPGRIP:c.511delT chr14 20850456 20850457 RISN_RPGRIP:c.1103delA + RPGRIP:c.1103delA chr14 20859314 20859315 RISN_RPGRIP:c.1525C>T + RPGRIP:c.1525C>T chr14 20900853 20900855 RISN_RPGRIP:c.15500_15501insTGTC + RPGRIP:c.15500_15501insTGTC chr14 20863251 20863252 RISN_RPGRIP:c.2237G>A + RPGRIP:c.2237G>A chr14 20864026 20864028 RISN_RPGRIP:c.2565_2566insTT + RPGRIP:c.2565_2566insTT chr14 20865669 20865670 RISN_RPGRIP:c.2759dupA + RPGRIP:c.2759dupA chr14 20883187 20883188 RISN_RPGRIP:c.3609delT + RPGRIP:c.3609delT chr14 20886180 20886182 RISN_RPGRIP:c.3628_3629insG + RPGRIP:c.3628_3629insG chr14 20889188 20889191 RISN_RPGRIP:c.3835_3837delGAG + RPGRIP:c.3835_3837delGAG chr14 20839032 20839033 RISN_RPGRIP:c.287C>A + RPGRIP:c.287C>A chr14 20840520 20840521 RISN_RPGRIP:c.525A>G + RPGRIP:c.525A>G chr14 20840569 20840570 RISN_RPGRIP:c.574A>G + RPGRIP:c.574A>G chr14 20862650 20862651 RISN_RPGRIP:c.1797G>A + RPGRIP:c.1797G>A chr14 20883124 20883125 RISN_RPGRIP:c.3546C>T + RPGRIP:c.3546C>T chr14 20889133 20889134 RISN_RPGRIP:c.3780A>T + RPGRIP:c.3780A>T chr14 20839001 20839002 RISN_RPGRIP:c.256C>T + RPGRIP:c.256C>T chr14 20859947 20859948 RISN_RPGRIP:c.1707T>G + RPGRIP:c.1707T>G chr14 20864088 20864089 RISN_RPGRIP:c.2627A>G + RPGRIP:c.2627A>G chr1 68627607 68627608 RISN_RPE65:c.2T>C - RPE65:c.2T>C chr1 68627564 68627565 RISN_RPE65:c.11+34T>A - RPE65:c.11+34T>A chr1 68627593 68627594 RISN_RPE65:c.11+5G>A - RPE65:c.11+5G>A chr1 68626373 68626374 RISN_RPE65:c.48T>C - RPE65:c.48T>C chr1 68626363 68626365 RISN_RPE65:c.57_58delGG - RPE65:c.57_58delGG chr1 68626356 68626357 RISN_RPE65:c.65T>C - RPE65:c.65T>C chr1 68626331 68626333 RISN_RPE65:c.89_90insT - RPE65:c.89_90insT chr1 68624563 68624564 RISN_RPE65:c.95G>T - RPE65:c.95G>T chr1 68624565 68624566 RISN_RPE65:c.95-2A>T - RPE65:c.95-2A>T chr1 68624544 68624553 RISN_RPE65:c.106_114delCTCTGGCTC - RPE65:c.106_114delCTCTGGCTC chr1 68624540 68624541 RISN_RPE65:c.118G>A - RPE65:c.118G>A chr1 68624527 68624528 RISN_RPE65:c.131G>A - RPE65:c.131G>A chr1 68624522 68624523 RISN_RPE65:c.136delG - RPE65:c.136delG chr1 68624456 68624457 RISN_RPE65:c.202C>T - RPE65:c.202C>T chr1 68624449 68624451 RISN_RPE65:c.208_209delinsGG - RPE65:c.208_209delinsGG chr1 68624427 68624428 RISN_RPE65:c.231C>A - RPE65:c.231C>A chr1 68624423 68624424 RISN_RPE65:c.235T>C - RPE65:c.235T>C chr1 68622578 68622579 RISN_RPE65:c.254G>A - RPE65:c.254G>A chr1 68622561 68622562 RISN_RPE65:c.271C>T - RPE65:c.271C>T chr1 68622560 68622562 RISN_RPE65:c.271_272insA - RPE65:c.271_272insA chr1 68622560 68622561 RISN_RPE65:c.272G>A - RPE65:c.272G>A chr1 68622560 68622561 RISN_RPE65:c.272G>C - RPE65:c.272G>C chr1 68622549 68622550 RISN_RPE65:c.283G>C - RPE65:c.283G>C chr1 68622523 68622543 RISN_RPE65:c.290_309del - RPE65:c.290_309del chr1 68622528 68622529 RISN_RPE65:c.304G>A - RPE65:c.304G>A chr1 68622528 68622529 RISN_RPE65:c.304G>T - RPE65:c.304G>T chr1 68622521 68622522 RISN_RPE65:c.311G>T - RPE65:c.311G>T chr1 68622478 68622479 RISN_RPE65:c.353+1G>T - RPE65:c.353+1G>T chr1 68622359 68622360 RISN_RPE65:c.370C>T - RPE65:c.370C>T chr1 68622335 68622336 RISN_RPE65:c.394G>A - RPE65:c.394G>A chr1 68622330 68622331 RISN_RPE65:c.399T>C - RPE65:c.399T>C chr1 68622299 68622300 RISN_RPE65:c.430T>G - RPE65:c.430T>G chr1 68622297 68622298 RISN_RPE65:c.432C>T - RPE65:c.432C>T chr1 68622285 68622286 RISN_RPE65:c.444G>T - RPE65:c.444G>T chr1 68622233 68622235 RISN_RPE65:c.495_495+1insG - RPE65:c.495_495+1insG chr1 68618700 68618701 RISN_RPE65:c.499G>T - RPE65:c.499G>T chr1 68618655 68618656 RISN_RPE65:c.544C>A - RPE65:c.544C>A chr1 68618655 68618656 RISN_RPE65:c.544C>T - RPE65:c.544C>T chr1 68618629 68618630 RISN_RPE65:c.570C>T - RPE65:c.570C>T chr1 68618590 68618591 RISN_RPE65:c.609C>T - RPE65:c.609C>T chr1 68618585 68618586 RISN_RPE65:c.614A>G - RPE65:c.614A>G chr1 68618583 68618585 RISN_RPE65:c.615_616delCA - RPE65:c.615_616delCA chr1 68618555 68618556 RISN_RPE65:c.643+1G>C - RPE65:c.643+1G>C chr1 68618551 68618552 RISN_RPE65:c.643+5G>A - RPE65:c.643+5G>A chr1 68617347 68617348 RISN_RPE65:c.644-2A>T - RPE65:c.644-2A>T chr1 68617345 68617346 RISN_RPE65:c.644A>G - RPE65:c.644A>G chr1 68617346 68617347 RISN_RPE65:c.644-1G>T - RPE65:c.644-1G>T chr1 68617378 68617379 RISN_RPE65:c.644-33G>C - RPE65:c.644-33G>C chr1 68617387 68617388 RISN_RPE65:c.644-42delT - RPE65:c.644-42delT chr1 68617388 68617389 RISN_RPE65:c.644-43delA - RPE65:c.644-43delA chr1 68617289 68617290 RISN_RPE65:c.700C>T - RPE65:c.700C>T chr1 68617274 68617275 RISN_RPE65:c.715T>G - RPE65:c.715T>G chr1 68617260 68617261 RISN_RPE65:c.725+4A>G - RPE65:c.725+4A>G chr1 68616968 68616976 RISN_RPE65:c.777_784del - RPE65:c.777_784del chr1 68616893 68616894 RISN_RPE65:c.858+1G>A - RPE65:c.858+1G>A chr1 68616893 68616894 RISN_RPE65:c.858+1G>T - RPE65:c.858+1G>T chr1 68616890 68616891 RISN_RPE65:c.858+4A>G - RPE65:c.858+4A>G chr1 68616784 68616785 RISN_RPE65:c.859G>T - RPE65:c.859G>T chr1 68616762 68616763 RISN_RPE65:c.881A>C - RPE65:c.881A>C chr1 68616754 68616755 RISN_RPE65:c.889delA - RPE65:c.889delA chr1 68616749 68616750 RISN_RPE65:c.894delG - RPE65:c.894delG chr1 68616736 68616737 RISN_RPE65:c.907A>T - RPE65:c.907A>T chr1 68616691 68616692 RISN_RPE65:c.952T>A - RPE65:c.952T>A chr1 68616681 68616682 RISN_RPE65:c.962dupA - RPE65:c.962dupA chr1 68616665 68616666 RISN_RPE65:c.978G>T - RPE65:c.978G>T chr1 68616654 68616655 RISN_RPE65:c.989G>A - RPE65:c.989G>A chr1 68615996 68615997 RISN_RPE65:c.1022T>C - RPE65:c.1022T>C chr1 68615971 68615973 RISN_RPE65:c.1046_1047insTGG - RPE65:c.1046_1047insTGG chr1 68615965 68615966 RISN_RPE65:c.1053A>G - RPE65:c.1053A>G chr1 68615962 68615963 RISN_RPE65:c.1056G>A - RPE65:c.1056G>A chr1 68615958 68615959 RISN_RPE65:c.1060delA - RPE65:c.1060delA chr1 68615949 68615951 RISN_RPE65:c.1068_1069ins1 - RPE65:c.1068_1069ins1 chr1 68615940 68615941 RISN_RPE65:c.1078G>C - RPE65:c.1078G>C chr1 68615916 68615917 RISN_RPE65:c.1102T>C - RPE65:c.1102T>C chr1 68615915 68615916 RISN_RPE65:c.1103A>G - RPE65:c.1103A>G chr1 68615898 68615899 RISN_RPE65:c.1120delA - RPE65:c.1120delA chr1 68609262 68609263 RISN_RPE65:c.1155G>A - RPE65:c.1155G>A chr1 68609239 68609240 RISN_RPE65:c.1178C>G - RPE65:c.1178C>G chr1 68609207 68609211 RISN_RPE65:c.1207_1210dupCTGG - RPE65:c.1207_1210dupCTGG chr1 68609209 68609210 RISN_RPE65:c.1208T>C - RPE65:c.1208T>C chr1 68609197 68609198 RISN_RPE65:c.1220T>C - RPE65:c.1220T>C chr1 68609194 68609195 RISN_RPE65:c.1223T>C - RPE65:c.1223T>C chr1 68609074 68609075 RISN_RPE65:c.1249G>C - RPE65:c.1249G>C chr1 68609031 68609032 RISN_RPE65:c.1292A>G - RPE65:c.1292A>G chr1 68609022 68609023 RISN_RPE65:c.1301C>T - RPE65:c.1301C>T chr1 68609021 68609022 RISN_RPE65:c.1302G>C - RPE65:c.1302G>C chr1 68609019 68609020 RISN_RPE65:c.1304A>G - RPE65:c.1304A>G chr1 68609016 68609017 RISN_RPE65:c.1307G>T - RPE65:c.1307G>T chr1 68608965 68608966 RISN_RPE65:c.1338+20A>C - RPE65:c.1338+20A>C chr1 68608868 68608869 RISN_RPE65:c.1350G>T - RPE65:c.1350G>T chr1 68608863 68608864 RISN_RPE65:c.1355T>G - RPE65:c.1355T>G chr1 68608848 68608849 RISN_RPE65:c.1370C>A - RPE65:c.1370C>A chr1 68608834 68608835 RISN_RPE65:c.1384G>T - RPE65:c.1384G>T chr1 68608800 68608801 RISN_RPE65:c.1418T>A - RPE65:c.1418T>A chr1 68607630 68607631 RISN_RPE65:c.1451G>A - RPE65:c.1451G>A chr1 68607652 68607653 RISN_RPE65:c.1451-22C>T - RPE65:c.1451-22C>T chr1 68607538 68607539 RISN_RPE65:c.1543C>T - RPE65:c.1543C>T chr1 68607522 68607523 RISN_RPE65:c.1559T>C - RPE65:c.1559T>C chr1 68607491 68607492 RISN_RPE65:c.1590delC - RPE65:c.1590delC chr17 6269594 6269606 RISN_AIPL1:c.1053_1064del - AIPL1:c.1053_1064del chr17 6278150 6278151 RISN_AIPL1:c.97-9G>A - AIPL1:c.97-9G>A chr17 6277896 6277897 RISN_AIPL1:c.276+66G>C - AIPL1:c.276+66G>C chr17 6272637 6272638 RISN_AIPL1:c.277-88C>T - AIPL1:c.277-88C>T chr17 6272563 6272564 RISN_AIPL1:c.277-14G>A - AIPL1:c.277-14G>A chr17 6272559 6272560 RISN_AIPL1:c.277-10A>C - AIPL1:c.277-10A>C chr17 6271125 6271126 RISN_AIPL1:c.466-25C>T - AIPL1:c.466-25C>T chr17 6271122 6271123 RISN_AIPL1:c.466-22T>C - AIPL1:c.466-22T>C chr17 6270640 6270641 RISN_AIPL1:c.784+18G>A - AIPL1:c.784+18G>A chr17 6277970 6277971 RISN_AIPL1:c.268G>C - AIPL1:c.268G>C chr17 6278081 6278082 RISN_AIPL1:c.157C>T - AIPL1:c.157C>T chr17 6278002 6278003 RISN_AIPL1:c.236T>C - AIPL1:c.236T>C chr17 6277974 6277975 RISN_AIPL1:c.264G>A - AIPL1:c.264G>A chr17 6272551 6272552 RISN_AIPL1:c.277-2A>G - AIPL1:c.277-2A>G chr17 6272540 6272541 RISN_AIPL1:c.286G>A - AIPL1:c.286G>A chr17 6272485 6272486 RISN_AIPL1:c.341C>T - AIPL1:c.341C>T chr17 6271079 6271080 RISN_AIPL1:c.487C>T - AIPL1:c.487C>T chr17 6270977 6270978 RISN_AIPL1:c.589G>C - AIPL1:c.589G>C chr17 6270949 6270950 RISN_AIPL1:c.617T>A - AIPL1:c.617T>A chr17 6270727 6270728 RISN_AIPL1:c.715T>C - AIPL1:c.715T>C chr17 6270658 6270659 RISN_AIPL1:c.784G>A - AIPL1:c.784G>A chr17 6269824 6269825 RISN_AIPL1:c.834G>A - AIPL1:c.834G>A chr17 6269753 6269754 RISN_AIPL1:c.905G>T - AIPL1:c.905G>T chr17 6269647 6269649 RISN_AIPL1:c.1010_1011delAG - AIPL1:c.1010_1011delAG chr17 6269532 6269533 RISN_AIPL1:c.1126C>T - AIPL1:c.1126C>T chr17 6278127 6278128 RISN_AIPL1:c.111C>T - AIPL1:c.111C>T chr17 6278004 6278005 RISN_AIPL1:c.234C>T - AIPL1:c.234C>T chr17 6277971 6277972 RISN_AIPL1:c.267C>T - AIPL1:c.267C>T chr17 6271050 6271051 RISN_AIPL1:c.516T>C - AIPL1:c.516T>C chr17 6270791 6270792 RISN_AIPL1:c.651A>G - AIPL1:c.651A>G chr17 6270677 6270678 RISN_AIPL1:c.765T>C - AIPL1:c.765T>C chrX 41089515 41089565 RISN_NYX:c.556_605delins3 + NYX:c.556_605delins3 chrX 41089044 41089068 RISN_NYX:c.85_108del + NYX:c.85_108del chrX 41089051 41089052 RISN_NYX:c.92G>C + NYX:c.92G>C chrX 41089064 41089065 RISN_NYX:c.105C>A + NYX:c.105C>A chrX 41089299 41089314 RISN_NYX:c.340_354del + NYX:c.340_354del chrX 41089386 41089387 RISN_NYX:c.427G>C + NYX:c.427G>C chrX 41089411 41089412 RISN_NYX:c.452C>T + NYX:c.452C>T chrX 41089422 41089424 RISN_NYX:c.463_464ins21 + NYX:c.463_464ins21 chrX 41089483 41089484 RISN_NYX:c.524C>G + NYX:c.524C>G chrX 41089510 41089511 RISN_NYX:c.551T>C + NYX:c.551T>C chrX 41089518 41089520 RISN_NYX:c.559_560delinsAA + NYX:c.559_560delinsAA chrX 41089577 41089579 RISN_NYX:c.618_619ins9 + NYX:c.618_619ins9 chrX 41089579 41089581 RISN_NYX:c.620_621ins9 + NYX:c.620_621ins9 chrX 41089586 41089588 RISN_NYX:c.627_628ins9 + NYX:c.627_628ins9 chrX 41089597 41089598 RISN_NYX:c.638T>A + NYX:c.638T>A chrX 41089606 41089607 RISN_NYX:c.647A>T + NYX:c.647A>T chrX 41089654 41089655 RISN_NYX:c.695T>C + NYX:c.695T>C chrX 41089686 41089698 RISN_NYX:c.727_738del + NYX:c.727_738del chrX 41089751 41089752 RISN_NYX:c.792C>G + NYX:c.792C>G chrX 41089813 41089814 RISN_NYX:c.854T>C + NYX:c.854T>C chrX 41089852 41089853 RISN_NYX:c.893T>C + NYX:c.893T>C chrX 41089894 41089895 RISN_NYX:c.935A>G + NYX:c.935A>G chrX 41089999 41090000 RISN_NYX:c.1040T>C + NYX:c.1040T>C chrX 41090008 41090009 RISN_NYX:c.1049G>A + NYX:c.1049G>A chrX 41090068 41090069 RISN_NYX:c.1109G>T + NYX:c.1109G>T chr15 70791635 70791636 RISN_BBS4:c.157-2A>G + XM_027370.3(BBS4):c.157-2A>G chr15 70803954 70803957 RISN_BBS4:p.Asn165His + XM_027370.3(BBS4):p.Asn165His chr15 70816275 70816278 RISN_BBS4:p.Ser457Ile + XM_027370.3(BBS4):p.Ser457Ile chr15 70774597 70791676 RISN_BBS4:c.52_195del + XM_027370.3(BBS4):c.52_195del chr15 70791701 70791702 RISN_BBS4:c.220+1G>C + XM_027370.3(BBS4):c.220+1G>C chr15 70803919 70803920 RISN_BBS4:c.460-2A>C + XM_027370.3(BBS4):c.460-2A>C chr15 70804045 70804047 RISN_BBS4:c.584_585insTG + XM_027370.3(BBS4):c.584_585insTG chr15 70810967 70810968 RISN_BBS4:c.884G>C + XM_027370.3(BBS4):c.884G>C chr15 70765686 70765687 RISN_BBS4:c.24+42G>A + XM_027370.3(BBS4):c.24+42G>A chr15 70789087 70789088 RISN_BBS4:c.77-6A>G + XM_027370.3(BBS4):c.77-6A>G chr15 70791791 70791792 RISN_BBS4:c.220+91G>A + XM_027370.3(BBS4):c.220+91G>A chr15 70794822 70794824 RISN_BBS4:c.332+27_332+28insA + XM_027370.3(BBS4):c.332+27_332+28insA chr15 70796260 70796261 RISN_BBS4:c.405+17C>T + XM_027370.3(BBS4):c.405+17C>T chr15 70814595 70814596 RISN_BBS4:c.1106+20C>T + XM_027370.3(BBS4):c.1106+20C>T chr15 70816374 70816375 RISN_BBS4:c.1450+18C>T + XM_027370.3(BBS4):c.1450+18C>T chr15 70816826 70816827 RISN_BBS4:c.1451-45C>T + XM_027370.3(BBS4):c.1451-45C>T chr15 70765604 70765605 RISN_BBS4:c.-17C>A + XM_027370.3(BBS4):c.-17C>A chr15 70814530 70814531 RISN_BBS4:c.1061T>C + XM_027370.3(BBS4):c.1061T>C chr15 70816981 70816982 RISN_BBS4:c.1560*1G>C + XM_027370.3(BBS4):c.1560*1G>C chr11 61475869 61475870 RISN_VMD2:c.16A>C + VMD2:c.16A>C chr11 61475870 61475871 RISN_VMD2:c.17C>G + VMD2:c.17C>G chr11 61475878 61475879 RISN_VMD2:c.25G>A + VMD2:c.25G>A chr11 61475879 61475880 RISN_VMD2:c.26T>C + VMD2:c.26T>C chr11 61475881 61475882 RISN_VMD2:c.28G>A + VMD2:c.28G>A chr11 61475882 61475883 RISN_VMD2:c.29C>T + VMD2:c.29C>T chr11 61475885 61475886 RISN_VMD2:c.32A>T + VMD2:c.32A>T chr11 61475891 61475892 RISN_VMD2:c.38G>A + VMD2:c.38G>A chr11 61475900 61475901 RISN_VMD2:c.47C>T + VMD2:c.47C>T chr11 61475903 61475904 RISN_VMD2:c.50T>G + VMD2:c.50T>G chr11 61475914 61475915 RISN_VMD2:c.61C>G + VMD2:c.61C>G chr11 61475925 61475926 RISN_VMD2:c.72G>T + VMD2:c.72G>T chr11 61475926 61475927 RISN_VMD2:c.73C>T + VMD2:c.73C>T chr11 61475927 61475928 RISN_VMD2:c.74G>A + VMD2:c.74G>A chr11 61475934 61475935 RISN_VMD2:c.81C>G + VMD2:c.81C>G chr11 61475938 61475939 RISN_VMD2:c.85T>C + VMD2:c.85T>C chr11 61475942 61475943 RISN_VMD2:c.89A>G + VMD2:c.89A>G chr11 61475975 61475976 RISN_VMD2:c.122T>C + VMD2:c.122T>C chr11 61479177 61479178 RISN_VMD2:c.176A>T + VMD2:c.176A>T chr11 61479218 61479219 RISN_VMD2:c.217A>C + VMD2:c.217A>C chr11 61479241 61479242 RISN_VMD2:c.240C>A + VMD2:c.240C>A chr11 61479244 61479245 RISN_VMD2:c.243G>C + VMD2:c.243G>C chr11 61479770 61479771 RISN_VMD2:c.253T>C + VMD2:c.253T>C chr11 61479789 61479790 RISN_VMD2:c.272C>T + VMD2:c.272C>T chr11 61479791 61479792 RISN_VMD2:c.274C>T + VMD2:c.274C>T chr11 61479791 61479792 RISN_VMD2:c.274C>A + VMD2:c.274C>A chr11 61479792 61479793 RISN_VMD2:c.275G>A + VMD2:c.275G>A chr11 61479796 61479797 RISN_VMD2:c.279G>C + VMD2:c.279G>C chr11 61479805 61479806 RISN_VMD2:c.288G>C + VMD2:c.288G>C chr11 61479814 61479815 RISN_VMD2:c.297C>A + VMD2:c.297C>A chr11 61479816 61479817 RISN_VMD2:c.299T>G + VMD2:c.299T>G chr11 61479818 61479819 RISN_VMD2:c.301C>A + VMD2:c.301C>A chr11 61479821 61479822 RISN_VMD2:c.304T>C + VMD2:c.304T>C chr11 61479827 61479828 RISN_VMD2:c.310G>C + VMD2:c.310G>C chr11 61479829 61479830 RISN_VMD2:c.312C>A + VMD2:c.312C>A chr11 61479916 61479917 RISN_VMD2:c.399C>G + VMD2:c.399C>G chr11 61479920 61479921 RISN_VMD2:c.403G>A + VMD2:c.403G>A chr11 61479936 61479937 RISN_VMD2:c.419T>G + VMD2:c.419T>G chr11 61479938 61479939 RISN_VMD2:c.421C>A + VMD2:c.421C>A chr11 61479939 61479940 RISN_VMD2:c.422G>A + VMD2:c.422G>A chr11 61480993 61480994 RISN_VMD2:c.584C>T + VMD2:c.584C>T chr11 61481011 61481012 RISN_VMD2:c.602T>C + VMD2:c.602T>C chr11 61481028 61481029 RISN_VMD2:c.619C>A + VMD2:c.619C>A chr11 61481035 61481036 RISN_VMD2:c.626G>A + VMD2:c.626G>A chr11 61481046 61481047 RISN_VMD2:c.636+1G>C + VMD2:c.636+1G>C chr11 61481449 61481450 RISN_VMD2:c.652C>A + VMD2:c.652C>A chr11 61481449 61481450 RISN_VMD2:c.652C>T + VMD2:c.652C>T chr11 61481450 61481451 RISN_VMD2:c.653G>A + VMD2:c.653G>A chr11 61481460 61481461 RISN_VMD2:c.663T>G + VMD2:c.663T>G chr11 61481462 61481463 RISN_VMD2:c.665G>T + VMD2:c.665G>T chr11 61481467 61481468 RISN_VMD2:c.670C>A + VMD2:c.670C>A chr11 61481468 61481469 RISN_VMD2:c.671T>C + VMD2:c.671T>C chr11 61481476 61481477 RISN_VMD2:c.679T>A + VMD2:c.679T>A chr11 61481477 61481478 RISN_VMD2:c.680A>G + VMD2:c.680A>G chr11 61481490 61481491 RISN_VMD2:c.693T>G + VMD2:c.693T>G chr11 61481500 61481501 RISN_VMD2:c.703G>C + VMD2:c.703G>C chr11 61481500 61481501 RISN_VMD2:c.703G>A + VMD2:c.703G>A chr11 61481507 61481508 RISN_VMD2:c.710C>G + VMD2:c.710C>G chr11 61482200 61482201 RISN_VMD2:c.722C>A + VMD2:c.722C>A chr11 61482205 61482206 RISN_VMD2:c.727G>A + VMD2:c.727G>A chr11 61482206 61482207 RISN_VMD2:c.728C>T + VMD2:c.728C>T chr11 61482306 61482307 RISN_VMD2:c.828C>G + VMD2:c.828C>G chr11 61482319 61482322 RISN_VMD2:c.841_843delTTC + VMD2:c.841_843delTTC chr11 61483554 61483555 RISN_VMD2:c.877C>A + VMD2:c.877C>A chr11 61483557 61483558 RISN_VMD2:c.880C>G + VMD2:c.880C>G chr11 61483558 61483561 RISN_VMD2:c.881_883delTCA + VMD2:c.881_883delTCA chr11 61483561 61483562 RISN_VMD2:c.884T>C + VMD2:c.884T>C chr11 61483563 61483564 RISN_VMD2:c.886A>C + VMD2:c.886A>C chr11 61483564 61483565 RISN_VMD2:c.887A>G + VMD2:c.887A>G chr11 61483566 61483567 RISN_VMD2:c.889C>G + VMD2:c.889C>G chr11 61483568 61483569 RISN_VMD2:c.891C>T + VMD2:c.891C>T chr11 61483570 61483571 RISN_VMD2:c.893T>C + VMD2:c.893T>C chr11 61483573 61483574 RISN_VMD2:c.896G>A + VMD2:c.896G>A chr11 61483575 61483576 RISN_VMD2:c.898G>A + VMD2:c.898G>A chr11 61483577 61483578 RISN_VMD2:c.900G>C + VMD2:c.900G>C chr11 61483578 61483579 RISN_VMD2:c.901G>A + VMD2:c.901G>A chr11 61483578 61483581 RISN_VMD2:c.901_903delGAT + VMD2:c.901_903delGAT chr11 61483580 61483581 RISN_VMD2:c.903T>G + VMD2:c.903T>G chr11 61483581 61483582 RISN_VMD2:c.904G>C + VMD2:c.904G>C chr11 61483582 61483583 RISN_VMD2:c.905A>T + VMD2:c.905A>T chr11 61483582 61483583 RISN_VMD2:c.905A>G + VMD2:c.905A>G chr11 61483586 61483587 RISN_VMD2:c.909T>A + VMD2:c.909T>A chr11 61483591 61483592 RISN_VMD2:c.914T>C + VMD2:c.914T>C chr11 61483594 61483595 RISN_VMD2:c.917A>G + VMD2:c.917A>G chr11 61483595 61483596 RISN_VMD2:c.918G>C + VMD2:c.918G>C chr11 61483596 61483597 RISN_VMD2:c.919A>G + VMD2:c.919A>G chr11 61483597 61483598 RISN_VMD2:c.920C>T + VMD2:c.920C>T chr11 61483600 61483601 RISN_VMD2:c.923A>G + VMD2:c.923A>G chr11 61483606 61483607 RISN_VMD2:c.929T>C + VMD2:c.929T>C chr11 61486669 61486671 RISN_VMD2:c.1468_1469delCA + VMD2:c.1468_1469delCA chr11 61479830 61479831 RISN_VMD2:c.313C>T + VMD2:c.313C>T chr11 61479872 61479873 RISN_VMD2:c.355G>C + VMD2:c.355G>C chr11 61479962 61479963 RISN_VMD2:c.445A>T + VMD2:c.445A>T chr11 61481444 61481445 RISN_VMD2:c.647C>T + VMD2:c.647C>T chr11 61482301 61482302 RISN_VMD2:c.823G>A + VMD2:c.823G>A chr11 61486900 61486901 RISN_VMD2:c.1699C>T + VMD2:c.1699C>T chr11 61475993 61475994 RISN_VMD2:c.140G>A + VMD2:c.140G>A chr11 61479953 61479955 RISN_VMD2:c.436_437delinsAA + VMD2:c.436_437delinsAA chr11 61483611 61483612 RISN_VMD2:c.934G>A + VMD2:c.934G>A chr11 61483610 61483611 RISN_VMD2:c.933C>T + VMD2:c.933C>T chr11 61475886 61475887 RISN_VMD2:c.33T>C + VMD2:c.33T>C chr11 61475940 61475941 RISN_VMD2:c.87C>T + VMD2:c.87C>T chr11 61475962 61475963 RISN_VMD2:c.109T>C + VMD2:c.109T>C chr11 61479166 61479167 RISN_VMD2:c.165G>A + VMD2:c.165G>A chr11 61479202 61479203 RISN_VMD2:c.201G>C + VMD2:c.201G>C chr11 61479220 61479221 RISN_VMD2:c.219C>A + VMD2:c.219C>A chr11 61479223 61479224 RISN_VMD2:c.222G>A + VMD2:c.222G>A chr11 61479753 61479754 RISN_VMD2:c.248-12C>T + VMD2:c.248-12C>T chr11 61479733 61479734 RISN_VMD2:c.248-32C>T + VMD2:c.248-32C>T chr11 61479748 61479749 RISN_VMD2:c.248-17C>T + VMD2:c.248-17C>T chr11 61479739 61479740 RISN_VMD2:c.248-26C>T + VMD2:c.248-26C>T chr11 61480867 61480868 RISN_VMD2:c.482-24C>T + VMD2:c.482-24C>T chr11 61481033 61481034 RISN_VMD2:c.624G>A + VMD2:c.624G>A chr11 61481428 61481429 RISN_VMD2:c.637-6C>T + VMD2:c.637-6C>T chr11 61481451 61481452 RISN_VMD2:c.654T>C + VMD2:c.654T>C chr11 61481493 61481494 RISN_VMD2:c.696C>A + VMD2:c.696C>A chr11 61482174 61482176 RISN_VMD2:c.715-27TCC[5] + VMD2:c.715-27TCC[5]#insertion in reference# chr11 61482174 61482176 RISN_VMD2:c.715-26_715-27insTCC + VMD2:c.715-26_715-27insTCC#insertion in reference# chr11 61482174 61482176 RISN_VMD2:c.715-27TCC[6] + VMD2:c.715-27TCC[6]#insertion in reference# chr11 61482198 61482199 RISN_VMD2:c.720G>C + VMD2:c.720G>C chr11 61483918 61483919 RISN_VMD2:c.949-21delT + VMD2:c.949-21delT chr11 61484013 61484014 RISN_VMD2:c.1023C>T + VMD2:c.1023C>T chr11 61484016 61484017 RISN_VMD2:c.1026G>A + VMD2:c.1026G>A chr11 61486611 61486612 RISN_VMD2:c.1410A>G + VMD2:c.1410A>G chr11 61486758 61486759 RISN_VMD2:c.1557C>T + VMD2:c.1557C>T chr11 61486775 61486776 RISN_VMD2:c.1574A>C + VMD2:c.1574A>C chr11 61486809 61486810 RISN_VMD2:c.1608T>C + VMD2:c.1608T>C chr11 61486870 61486871 RISN_VMD2:c.1669G>A + VMD2:c.1669G>A chr11 61486882 61486883 RISN_VMD2:c.1681A>G + VMD2:c.1681A>G chr11 61488124 61488125 RISN_VMD2:c.1740-27T>C + VMD2:c.1740-27T>C chr11 61487047 61487049 RISN_VMD2:c.1846_1847insG + VMD2:c.1846_1847insG chr16 55102297 55102298 RISN_BBS2:c.507+1G>C - AF342736.1(BBS2):c.507+1G>C chr16 55111203 55111206 RISN_BBS2:p.Tyr24X - AF342736.1(BBS2):p.Tyr24X chr16 55077132 55077135 RISN_BBS2:p.Arg643Pro - AF342736.1(BBS2):p.Arg643Pro chr16 55105986 55105987 RISN_BBS2:c.224T>G - AF342736.1(BBS2):c.224T>G chr16 55094211 55094212 RISN_BBS2:c.814C>T - AF342736.1(BBS2):c.814C>T chr16 55094202 55094203 RISN_BBS2:c.823C>T - AF342736.1(BBS2):c.823C>T chr16 55094085 55094086 RISN_BBS2:c.940delA - AF342736.1(BBS2):c.940delA chr16 55092784 55092785 RISN_BBS2:c.1206dupA - AF342736.1(BBS2):c.1206dupA chr16 55091304 55091305 RISN_BBS2:c.1413A>C - AF342736.1(BBS2):c.1413A>C chr12 87037531 87037532 RISN_CEP290:c.21G>T - CEP290:c.21G>T chr12 86990148 86990149 RISN_CEP290:c.3175dupA - CEP290:c.3175dupA chr12 86990147 86990148 RISN_CEP290:c.3176dupT - CEP290:c.3176dupT chr12 86980878 86980879 RISN_CEP290:c.4656delA - CEP290:c.4656delA chr12 86980171 86980172 RISN_CEP290:c.4732G>T - CEP290:c.4732G>T chr12 86980132 86980133 RISN_CEP290:c.4771C>T - CEP290:c.4771C>T chr12 86974103 86974104 RISN_CEP290:c.5424T>C - CEP290:c.5424T>C chr12 86974009 86974013 RISN_CEP290:c.5515_5518delGAGA - CEP290:c.5515_5518delGAGA chr12 86973526 86973527 RISN_CEP290:c.5649dupA - CEP290:c.5649dupA chr12 86973507 86973508 RISN_CEP290:c.5668G>T - CEP290:c.5668G>T chr12 86958962 86958963 RISN_CEP290:c.6331C>T - CEP290:c.6331C>T chr12 86945527 86945528 RISN_CEP290:c.7341dupA - CEP290:c.7341dupA chr12 87035809 87035810 RISN_CEP290:c.181-1G>T - CEP290:c.181-1G>T chr12 87035421 87035422 RISN_CEP290:c.265dupA - CEP290:c.265dupA chr12 87026110 87026112 RISN_CEP290:c.679_680delGA - CEP290:c.679_680delGA chr12 87014960 87014961 RISN_CEP290:c.1550delT - CEP290:c.1550delT chr12 87008033 87008038 RISN_CEP290:c.2118_2122dupTCAGC - CEP290:c.2118_2122dupTCAGC chr12 86997427 86997428 RISN_CEP290:c.2991+1655A>G - CEP290:c.2991+1655A>G chr12 86985491 86985492 RISN_CEP290:c.3814C>T - CEP290:c.3814C>T chr12 86984102 86984104 RISN_CEP290:c.4115_4116delTA - CEP290:c.4115_4116delTA chr12 86979321 86979322 RISN_CEP290:c.4966G>T - CEP290:c.4966G>T chr17 7513734 7513735 TP53_g.18597A>T - X54156.1(TP53):g.18597A>T chr12 86968063 86968068 RISN_CEP290:c.5813_5817delCTTTA - CEP290:c.5813_5817delCTTTA chr12 87008100 87008101 RISN_CEP290:c.2055T>C - CEP290:c.2055T>C chr12 87007591 87007600 RISN_CEP290:c.2218-4_2222del - CEP290:c.2218-4_2222del chr12 54401337 54401338 RISN_RDH5:c.103G>A + RDH5:c.103G>A chr12 54401362 54401363 RISN_RDH5:c.128delT + RDH5:c.128delT chr12 54401449 54401451 RISN_RDH5:c.215_216insGTGG + RDH5:c.215_216insGTGG chr12 54401452 54401453 RISN_RDH5:c.218C>T + RDH5:c.218C>T chr12 54401747 54401748 RISN_RDH5:c.319G>C + RDH5:c.319G>C chr12 54401822 54401823 RISN_RDH5:c.394G>A + RDH5:c.394G>A chr12 54401896 54401897 RISN_RDH5:c.468C>T + RDH5:c.468C>T chr12 54401929 54401930 RISN_RDH5:c.501C>G + RDH5:c.501C>G chr12 54401958 54401959 RISN_RDH5:c.530T>G + RDH5:c.530T>G chr12 54404078 54404079 RISN_RDH5:c.712G>T + RDH5:c.712G>T chr12 54404078 54404079 RISN_RDH5:c.712dupG + RDH5:c.712dupG chr12 54404477 54404478 RISN_RDH5:c.839G>A + RDH5:c.839G>A chr12 54404479 54404480 RISN_RDH5:c.841T>C + RDH5:c.841T>C chr12 54404518 54404519 RISN_RDH5:c.880G>C + RDH5:c.880G>C chr12 54404566 54404567 RISN_RDH5:c.928_928delinsGAAG + RDH5:c.928_928delinsGAAG chr12 54401331 54401332 RISN_RDH5:c.97A>G + RDH5:c.97A>G chr12 54401851 54401852 RISN_RDH5:c.423C>T + RDH5:c.423C>T chr12 54403964 54403967 RISN_RDH5:p.Val200Val + RDH5:p.Val200Val chr5 178354532 178354533 RISN_GRM6:c.19G>A - GRM6:c.19G>A chr5 178354476 178354495 RISN_GRM6:c.57_75dup - GRM6:c.57_75dup chr5 178354468 178354469 RISN_GRM6:c.83G>A - GRM6:c.83G>A chr5 178354414 178354415 RISN_GRM6:c.137C>T - GRM6:c.137C>T chr5 178354379 178354380 RISN_GRM6:c.172G>C - GRM6:c.172G>C chr5 178354375 178354376 RISN_GRM6:c.176A>C - GRM6:c.176A>C chr5 178354290 178354291 RISN_GRM6:c.261C>T - GRM6:c.261C>T chr5 178354215 178354216 RISN_GRM6:c.336C>T - GRM6:c.336C>T chr5 178354199 178354200 RISN_GRM6:c.352C>A - GRM6:c.352C>A chr5 178354103 178354104 RISN_GRM6:c.448G>A - GRM6:c.448G>A chr5 178353981 178353982 RISN_GRM6:c.504+66A>C - GRM6:c.504+66A>C chr5 178351530 178351531 RISN_GRM6:c.664G>A - GRM6:c.664G>A chr5 178351508 178351509 RISN_GRM6:c.686G>A - GRM6:c.686G>A chr5 178351390 178351391 RISN_GRM6:c.721+83G>T - GRM6:c.721+83G>T chr5 178351160 178351161 RISN_GRM6:c.727G>T - GRM6:c.727G>T chr5 178351159 178351161 RISN_GRM6:c.727_728insG - GRM6:c.727_728insG chr5 178351154 178351155 RISN_GRM6:c.733A>G - GRM6:c.733A>G chr5 178348893 178348894 RISN_GRM6:c.1131C>T - GRM6:c.1131C>T chr5 178348818 178348820 RISN_GRM6:c.1153+52_1153+53ins9 - GRM6:c.1153+52_1153+53ins9 chr5 178348668 178348669 RISN_GRM6:c.1227C>T - GRM6:c.1227C>T chr5 178348542 178348543 RISN_GRM6:c.1353T>C - GRM6:c.1353T>C chr5 178346552 178346553 RISN_GRM6:c.1392A>G - GRM6:c.1392A>G chr5 178346421 178346422 RISN_GRM6:c.1500+23A>G - GRM6:c.1500+23A>G chr5 178346295 178346296 RISN_GRM6:c.1565G>A - GRM6:c.1565G>A chr5 178346294 178346295 RISN_GRM6:c.1566C>T - GRM6:c.1566C>T chr5 178346128 178346129 RISN_GRM6:c.1732C>T - GRM6:c.1732C>T chr5 178346112 178346113 RISN_GRM6:c.1748C>T - GRM6:c.1748C>T chr5 178346094 178346095 RISN_GRM6:c.1766C>T - GRM6:c.1766C>T chr5 178346012 178346013 RISN_GRM6:c.1848C>T - GRM6:c.1848C>T chr5 178345999 178346000 RISN_GRM6:c.1861C>T - GRM6:c.1861C>T chr5 178345985 178345986 RISN_GRM6:c.1875C>T - GRM6:c.1875C>T chr5 178345973 178345974 RISN_GRM6:c.1887C>T - GRM6:c.1887C>T chr5 178345916 178345917 RISN_GRM6:c.1944G>T - GRM6:c.1944G>T chr5 178345907 178345908 RISN_GRM6:c.1953C>T - GRM6:c.1953C>T chr5 178345904 178345905 RISN_GRM6:c.1956C>T - GRM6:c.1956C>T chr5 178345902 178345903 RISN_GRM6:c.1958G>A - GRM6:c.1958G>A chr5 178345768 178345769 RISN_GRM6:c.2092C>G - GRM6:c.2092C>G chr5 178345738 178345739 RISN_GRM6:c.2122C>T - GRM6:c.2122C>T chr5 178342818 178342819 RISN_GRM6:c.2134A>G - GRM6:c.2134A>G chr5 178342756 178342757 RISN_GRM6:c.2196G>A - GRM6:c.2196G>A chr5 178342611 178342612 RISN_GRM6:c.2341G>A - GRM6:c.2341G>A chr5 178342555 178342556 RISN_GRM6:c.2397C>T - GRM6:c.2397C>T chr5 178342532 178342533 RISN_GRM6:c.2420C>T - GRM6:c.2420C>T chr5 178342470 178342471 RISN_GRM6:c.2436+46A>C - GRM6:c.2436+46A>C chr5 178342461 178342462 RISN_GRM6:c.2436+55G>A - GRM6:c.2436+55G>A chr5 178341466 178341467 RISN_GRM6:c.2437-6G>A - GRM6:c.2437-6G>A chr5 178341207 178341208 RISN_GRM6:c.2634*56A>C - GRM6:c.2634*56A>C chrX 37942804 37942805 RISN_RPGR:c.28+5G>A - RPGR:c.28+5G>A chrX 37942808 37942809 RISN_RPGR:c.28+1G>A - RPGR:c.28+1G>A chrX 37939008 37939009 RISN_RPGR:c.29-15A>G - RPGR:c.29-15A>G chrX 37938925 37938926 RISN_RPGR:c.97delA - RPGR:c.97delA chrX 37938916 37938917 RISN_RPGR:c.106G>T - RPGR:c.106G>T chrX 37938895 37938896 RISN_RPGR:c.127G>A - RPGR:c.127G>A chrX 37938894 37938895 RISN_RPGR:c.128G>A - RPGR:c.128G>A chrX 37938881 37938882 RISN_RPGR:c.141T>G - RPGR:c.141T>G chrX 37938868 37938869 RISN_RPGR:c.154G>T - RPGR:c.154G>T chrX 37938416 37938417 RISN_RPGR:c.155-2A>G - RPGR:c.155-2A>G chrX 37936560 37936561 RISN_RPGR:c.248-2A>G - RPGR:c.248-2A>G chrX 37938390 37938391 RISN_RPGR:c.179G>T - RPGR:c.179G>T chrX 37938331 37938333 RISN_RPGR:c.237_238delAT - RPGR:c.237_238delAT chrX 37936564 37936565 RISN_RPGR:c.248-6T>A - RPGR:c.248-6T>A chrX 37936512 37936513 RISN_RPGR:c.294C>A - RPGR:c.294C>A chrX 37936510 37936511 RISN_RPGR:c.296C>A - RPGR:c.296C>A chrX 37936510 37936512 RISN_RPGR:c.295_296insCA - RPGR:c.295_296insCA chrX 37936495 37936496 RISN_RPGR:c.310+1G>C - RPGR:c.310+1G>C chrX 37936493 37936494 RISN_RPGR:c.310+3A>G - RPGR:c.310+3A>G chrX 37934412 37934413 RISN_RPGR:c.355delT - RPGR:c.355delT chrX 37934396 37934397 RISN_RPGR:c.371delC - RPGR:c.371delC chrX 37934388 37934389 RISN_RPGR:c.379A>G - RPGR:c.379A>G chrX 37934378 37934379 RISN_RPGR:c.389T>G - RPGR:c.389T>G chrX 37934352 37934353 RISN_RPGR:c.415G>T - RPGR:c.415G>T chrX 37934297 37934298 RISN_RPGR:c.469+1G>A - RPGR:c.469+1G>A chrX 37932922 37932923 RISN_RPGR:c.482delT - RPGR:c.482delT chrX 37932921 37932923 RISN_RPGR:c.482_483delTT - RPGR:c.482_483delTT chrX 37932912 37932913 RISN_RPGR:c.492G>A - RPGR:c.492G>A chrX 37932823 37932824 RISN_RPGR:c.581G>A - RPGR:c.581G>A chrX 37932799 37932800 RISN_RPGR:c.605C>A - RPGR:c.605C>A chrX 37932780 37932781 RISN_RPGR:c.619+5G>A - RPGR:c.619+5G>A chrX 37926283 37926284 RISN_RPGR:c.620-41T>C - RPGR:c.620-41T>C chrX 37926218 37926219 RISN_RPGR:c.644G>T - RPGR:c.644G>T chrX 37926159 37926160 RISN_RPGR:c.703C>T - RPGR:c.703C>T chrX 37926156 37926157 RISN_RPGR:c.706C>T - RPGR:c.706C>T chrX 37926132 37926133 RISN_RPGR:c.730A>T - RPGR:c.730A>T chrX 37926130 37926131 RISN_RPGR:c.732G>A - RPGR:c.732G>A chrX 37926115 37926116 RISN_RPGR:c.747delC - RPGR:c.747delC chrX 37926114 37926115 RISN_RPGR:c.748T>C - RPGR:c.748T>C chrX 37926111 37926113 RISN_RPGR:c.750_751delTG - RPGR:c.750_751delTG chrX 37914425 37920260 RISN_RPGR:c.(?_779)_(1245_?)del - RPGR:c.(?_779)_(1245_?)del chrX 37920104 37920260 RISN_RPGR:c.(?_779)_(934_?)del - RPGR:c.(?_779)_(934_?)del chrX 37920260 37920261 RISN_RPGR:c.779-1G>A - RPGR:c.779-1G>A chrX 37926079 37926080 RISN_RPGR:c.778+5G>A - RPGR:c.778+5G>A chrX 37920215 37920216 RISN_RPGR:c.823G>A - RPGR:c.823G>A chrX 37920202 37920206 RISN_RPGR:c.833_836delCTTT - RPGR:c.833_836delCTTT chrX 37920204 37920205 RISN_RPGR:c.834delT - RPGR:c.834delT chrX 37920203 37920205 RISN_RPGR:c.834_835delTT - RPGR:c.834_835delTT chrX 37902259 37920203 RISN_RPGR:c.836_2209del - RPGR:c.836_2209del chrX 37920173 37920174 RISN_RPGR:c.865A>G - RPGR:c.865A>G chrX 37920169 37920170 RISN_RPGR:c.869delA - RPGR:c.869delA chrX 37920138 37920153 RISN_RPGR:c.886_900del - RPGR:c.886_900del chrX 37920134 37920135 RISN_RPGR:c.904T>C - RPGR:c.904T>C chrX 37920133 37920134 RISN_RPGR:c.905G>A - RPGR:c.905G>A chrX 37920107 37920108 RISN_RPGR:c.931A>G - RPGR:c.931A>G chrX 37920103 37920104 RISN_RPGR:c.934+1G>A - RPGR:c.934+1G>A chrX 37920103 37920104 RISN_RPGR:c.934+1G>C - RPGR:c.934+1G>C chrX 37916817 37916818 RISN_RPGR:c.958G>A - RPGR:c.958G>A chrX 37916795 37916796 RISN_RPGR:c.980T>G - RPGR:c.980T>G chrX 37916781 37916782 RISN_RPGR:c.994G>T - RPGR:c.994G>T chrX 37916742 37916743 RISN_RPGR:c.1033A>G - RPGR:c.1033A>G chrX 37914582 37914583 RISN_RPGR:c.1088dupT - RPGR:c.1088dupT chrX 37914571 37914572 RISN_RPGR:c.1099delC - RPGR:c.1099delC chrX 37914550 37914551 RISN_RPGR:c.1120G>T - RPGR:c.1120G>T chrX 37914506 37914507 RISN_RPGR:c.1164G>A - RPGR:c.1164G>A chrX 37914426 37914428 RISN_RPGR:c.1243_1244dupAG - RPGR:c.1243_1244dupAG chrX 37914422 37914423 RISN_RPGR:c.1245+3A>G - RPGR:c.1245+3A>G chrX 37914409 37914410 RISN_RPGR:c.1245+16A>G - RPGR:c.1245+16A>G chrX 37912888 37912907 RISN_RPGR:c.1261_1279del - RPGR:c.1261_1279del chrX 37912893 37912894 RISN_RPGR:c.1274G>A - RPGR:c.1274G>A chrX 37912876 37912877 RISN_RPGR:c.1291A>G - RPGR:c.1291A>G chrX 37912860 37912861 RISN_RPGR:c.1307G>A - RPGR:c.1307G>A chrX 37912790 37912792 RISN_RPGR:c.1376_1377delTC - RPGR:c.1376_1377delTC chrX 37912762 37912766 RISN_RPGR:c.1402_1405delCCAG - RPGR:c.1402_1405delCCAG chrX 37906892 37906893 RISN_RPGR:c.1476delC - RPGR:c.1476delC chrX 37906890 37906891 RISN_RPGR:c.1478T>A - RPGR:c.1478T>A chrX 37906594 37906595 RISN_RPGR:c.1507-101T>A - RPGR:c.1507-101T>A chrX 37906590 37906591 RISN_RPGR:c.1507-97T>C - RPGR:c.1507-97T>C chrX 37906594 37906598 RISN_RPGR:c.1507-104_1507-101delAAAT - RPGR:c.1507-104_1507-101delAAAT chrX 37906561 37906562 RISN_RPGR:c.1507-68T>C - RPGR:c.1507-68T>C chrX 37906491 37906493 RISN_RPGR:c.1508_1509delCA - RPGR:c.1508_1509delCA chrX 37906417 37906418 RISN_RPGR:c.1572+11A>G - RPGR:c.1572+11A>G chrX 37901009 37903511 RISN_RPGR:c.(?_1573)_(3459_?)del - RPGR:c.(?_1573)_(3459_?)del chrX 37903512 37903513 RISN_RPGR:c.1573-2A>G - RPGR:c.1573-2A>G chrX 37903511 37903512 RISN_RPGR:c.1573-1G>A - RPGR:c.1573-1G>A chrX 37903518 37903519 RISN_RPGR:c.1573-8A>G - RPGR:c.1573-8A>G chrX 37903505 37903509 RISN_RPGR:c.1575_1578delACAA - RPGR:c.1575_1578delACAA chrX 37903505 37903508 RISN_RPGR:c.1576_1578delCAA - RPGR:c.1576_1578delCAA chrX 37903485 37903486 RISN_RPGR:c.1598C>T - RPGR:c.1598C>T chrX 37903386 37903387 RISN_RPGR:c.1697G>A - RPGR:c.1697G>A chrX 37903336 37903337 RISN_RPGR:c.1747G>T - RPGR:c.1747G>T chrX 37902636 37902637 RISN_RPGR:c.1832dupA - RPGR:c.1832dupA chrX 37902460 37902461 RISN_RPGR:c.2008C>T - RPGR:c.2008C>T chrX 37902413 37902414 RISN_RPGR:c.2055A>G - RPGR:c.2055A>G chrX 37902388 37902389 RISN_RPGR:c.2080A>T - RPGR:c.2080A>T chrX 37902359 37902363 RISN_RPGR:c.2106_2109delGAAG - RPGR:c.2106_2109delGAAG chrX 37902358 37902360 RISN_RPGR:c.2109_2110ins4 - RPGR:c.2109_2110ins4 chrX 37902252 37902325 RISN_RPGR:c.2144_2216dup - RPGR:c.2144_2216dup chrX 37902250 37902251 RISN_RPGR:c.2218G>T - RPGR:c.2218G>T chrX 37902245 37902246 RISN_RPGR:c.2223G>A - RPGR:c.2223G>A chrX 37902242 37902243 RISN_RPGR:c.2226G>A - RPGR:c.2226G>A chrX 37902228 37902230 RISN_RPGR:c.2239_2240delGA - RPGR:c.2239_2240delGA chrX 37902223 37902224 RISN_RPGR:c.2245G>T - RPGR:c.2245G>T chrX 37902209 37902210 RISN_RPGR:c.2259A>T - RPGR:c.2259A>T chrX 37902208 37902209 RISN_RPGR:c.2260G>T - RPGR:c.2260G>T chrX 37902198 37902200 RISN_RPGR:c.2269_2270delGA - RPGR:c.2269_2270delGA chrX 37902157 37902158 RISN_RPGR:c.2311delG - RPGR:c.2311delG chrX 37902150 37902152 RISN_RPGR:c.2317_2318ins14 - RPGR:c.2317_2318ins14 chrX 37902147 37902149 RISN_RPGR:c.2320_2321delGA - RPGR:c.2320_2321delGA chrX 37902128 37902129 RISN_RPGR:c.2340A>G - RPGR:c.2340A>G chrX 37902126 37902127 RISN_RPGR:c.2342C>A - RPGR:c.2342C>A chrX 37902111 37902113 RISN_RPGR:c.2356_2357delAA - RPGR:c.2356_2357delAA chrX 37902093 37902112 RISN_RPGR:c.2357_2375del - RPGR:c.2357_2375del chrX 37902067 37902069 RISN_RPGR:c.2400_2401delAA - RPGR:c.2400_2401delAA chrX 37902062 37902066 RISN_RPGR:c.2403_2406delAGAG - RPGR:c.2403_2406delAGAG chrX 37902062 37902064 RISN_RPGR:c.2405_2406delAG - RPGR:c.2405_2406delAG chrX 37902055 37902057 RISN_RPGR:c.2412_2413delAG - RPGR:c.2412_2413delAG chrX 37902041 37902043 RISN_RPGR:c.2426_2427delAG - RPGR:c.2426_2427delAG chrX 37902023 37902027 RISN_RPGR:c.2442_2445delAGAG - RPGR:c.2442_2445delAGAG chrX 37902007 37902022 RISN_RPGR:c.2447_2461del - RPGR:c.2447_2461del chrX 37901972 37901973 RISN_RPGR:c.2496dupG - RPGR:c.2496dupG chrX 37901946 37901947 RISN_RPGR:c.2522delA - RPGR:c.2522delA chrX 37901907 37901928 RISN_RPGR:c.2541_2561del - RPGR:c.2541_2561del chrX 37901911 37901912 RISN_RPGR:c.2557G>T - RPGR:c.2557G>T chrX 37901883 37901885 RISN_RPGR:c.2584_2585delGG - RPGR:c.2584_2585delGG chrX 37901849 37901864 RISN_RPGR:c.2605_2619del - RPGR:c.2605_2619del chrX 37901856 37901858 RISN_RPGR:c.2611_2612dupGG - RPGR:c.2611_2612dupGG chrX 37901842 37901844 RISN_RPGR:c.2625_2626insA - RPGR:c.2625_2626insA chrX 37901818 37901819 RISN_RPGR:c.2650G>T - RPGR:c.2650G>T chrX 37901799 37901802 RISN_RPGR:c.2667_2669delGGA - RPGR:c.2667_2669delGGA chrX 37901739 37901741 RISN_RPGR:c.2728_2729delGG - RPGR:c.2728_2729delGG chrX 37901706 37901708 RISN_RPGR:c.2761_2762delGG - RPGR:c.2761_2762delGG chrX 37901628 37901649 RISN_RPGR:c.2820_2840dup - RPGR:c.2820_2840dup chrX 37901574 37901575 RISN_RPGR:c.2894delA - RPGR:c.2894delA chrX 37901523 37901544 RISN_RPGR:c.2925_2945dup - RPGR:c.2925_2945dup chrX 37901472 37901477 RISN_RPGR:c.2992_2996delGAAGG - RPGR:c.2992_2996delGAAGG chrX 37901385 37901397 RISN_RPGR:c.3072_3083del - RPGR:c.3072_3083del chrX 37901371 37901383 RISN_RPGR:c.3086_3097del - RPGR:c.3086_3097del chrX 37901366 37901368 RISN_RPGR:c.3101_3102delAG - RPGR:c.3101_3102delAG chrX 37901366 37901367 RISN_RPGR:c.3102delA - RPGR:c.3102delA chrX 37901363 37901364 RISN_RPGR:c.3105delG - RPGR:c.3105delG chrX 37901237 37901238 RISN_RPGR:c.3231T>C - RPGR:c.3231T>C chrX 37901225 37901226 RISN_RPGR:c.3243T>A - RPGR:c.3243T>A chrX 37901222 37901223 RISN_RPGR:c.3246A>G - RPGR:c.3246A>G chrX 37901145 37901147 RISN_RPGR:c.3322_3323insA - RPGR:c.3322_3323insA chrX 37901060 37901061 RISN_RPGR:c.3408T>C - RPGR:c.3408T>C chr11 66038725 66038726 RISN_BBS1:c.432+1G>A + AF503941.1(BBS1):c.432+1G>A chr11 66047522 66047523 RISN_BBS1:c.851delA + AF503941.1(BBS1):c.851delA chr11 66050227 66050228 RISN_BBS1:c.1169T>G + AF503941.1(BBS1):c.1169T>G chr11 66055748 66055749 RISN_BBS1:c.1655T>G + AF503941.1(BBS1):c.1655T>G chrX 9543580 9543581 RISN_OA1:c.13C>T - OA1:c.13C>T chrX 9543489 9543490 RISN_OA1:c.104G>A - OA1:c.104G>A chrX 9543477 9543478 RISN_OA1:c.116T>G - OA1:c.116T>G chrX 9543436 9543443 RISN_OA1:c.151_157del - OA1:c.151_157del chrX 9543400 9543429 RISN_OA1:c.165_193del - OA1:c.165_193del chrX 9543418 9543420 RISN_OA1:c.174_175insC - OA1:c.174_175insC chrX 9543418 9543419 RISN_OA1:c.175delT - OA1:c.175delT chrX 9543362 9543379 RISN_OA1:c.215_231del - OA1:c.215_231del chrX 9543361 9543362 RISN_OA1:c.232G>A - OA1:c.232G>A chrX 9543360 9543361 RISN_OA1:c.233A>T - OA1:c.233A>T chrX 9543343 9543344 RISN_OA1:c.250G>C - OA1:c.250G>C chrX 9538492 9538602 RISN_OA1:c.(?_251)_(360_?)del - OA1:c.(?_251)_(360_?)del chrX 9517260 9538602 RISN_OA1:c.(?_251)_(1120_?)del - OA1:c.(?_251)_(1120_?)del chrX 9538601 9538602 RISN_OA1:c.251G>A - OA1:c.251G>A chrX 9538602 9538603 RISN_OA1:c.251-1G>C - OA1:c.251-1G>C chrX 9538542 9538543 RISN_OA1:c.310delG - OA1:c.310delG chrX 9538505 9538506 RISN_OA1:c.347G>C - OA1:c.347G>C chrX 9538506 9538507 RISN_OA1:c.346T>C - OA1:c.346T>C chrX 9538499 9538500 RISN_OA1:c.353G>A - OA1:c.353G>A chrX 9538492 9538493 RISN_OA1:c.360G>A - OA1:c.360G>A chrX 9538487 9538488 RISN_OA1:c.360+5G>C - OA1:c.360+5G>C chrX 9538479 9538480 RISN_OA1:c.360+13C>G - OA1:c.360+13C>G chrX 9537107 9537202 RISN_OA1:c.(?_361)_(455_?)del - OA1:c.(?_361)_(455_?)del chrX 9537191 9537192 RISN_OA1:c.371A>G - OA1:c.371A>G chrX 9537165 9537166 RISN_OA1:c.397T>A - OA1:c.397T>A chrX 9537165 9537166 RISN_OA1:c.397T>C - OA1:c.397T>C chrX 9537160 9537161 RISN_OA1:c.402delG - OA1:c.402delG chrX 9537149 9537150 RISN_OA1:c.413C>T - OA1:c.413C>T chrX 9537117 9537119 RISN_OA1:c.444_445insAGATCGG - OA1:c.444_445insAGATCGG chrX 9537107 9537108 RISN_OA1:c.455G>A - OA1:c.455G>A chrX 9537106 9537107 RISN_OA1:c.455+1G>C - OA1:c.455+1G>C chrX 9523819 9526442 RISN_OA1:c.(?_456)_(658_?)del - OA1:c.(?_456)_(658_?)del chrX 9526349 9526442 RISN_OA1:c.(?_456)_(548_?)del - OA1:c.(?_456)_(548_?)del chrX 9526379 9526380 RISN_OA1:c.518C>A - OA1:c.518C>A chrX 9521431 9521432 RISN_OA1:c.676delG - OA1:c.676delG chrX 9521421 9521422 RISN_OA1:c.686G>T - OA1:c.686G>T chrX 9521412 9521413 RISN_OA1:c.695C>A - OA1:c.695C>A chrX 9521410 9521411 RISN_OA1:c.697G>A - OA1:c.697G>A chrX 9521402 9521403 RISN_OA1:c.705G>A - OA1:c.705G>A chrX 9521377 9521378 RISN_OA1:c.730A>G - OA1:c.730A>G chrX 9521340 9521354 RISN_OA1:c.754_767del - OA1:c.754_767del chrX 9519219 9519220 RISN_OA1:c.779A>T - OA1:c.779A>T chrX 9519186 9519187 RISN_OA1:c.812A>G - OA1:c.812A>G chrX 9519112 9519113 RISN_OA1:c.885+1G>A - OA1:c.885+1G>A chrX 9519128 9519131 RISN_OA1:c.868_870delACC - OA1:c.868_870delACC chrX 9519124 9519125 RISN_OA1:c.874T>G - OA1:c.874T>G chrX 9519122 9519123 RISN_OA1:c.876G>T - OA1:c.876G>T chrX 9519122 9519123 RISN_OA1:c.876G>A - OA1:c.876G>A chrX 9517448 9517450 RISN_OA1:c.931_932insCG - OA1:c.931_932insCG chrX 9503327 9503328 RISN_OA1:c.1215*194C>T - OA1:c.1215*194C>T chr1 194029615 194029616 RISN_CRB1:c.478dupG + CRB1:c.478dupG chr1 194135531 194135534 RISN_CRB1:c.2882_2884delTAT + CRB1:c.2882_2884delTAT chr1 194143034 194143035 RISN_CRB1:c.3961T>A + CRB1:c.3961T>A chr1 194143034 194143044 RISN_CRB1:c.3961_3970del + CRB1:c.3961_3970del chr1 194029619 194029620 RISN_CRB1:c.482C>T + CRB1:c.482C>T chr1 194045164 194045165 RISN_CRB1:c.750T>G + CRB1:c.750T>G chr1 194121822 194121823 RISN_CRB1:c.1208C>G + CRB1:c.1208C>G chr1 194128345 194128346 RISN_CRB1:c.2234C>T + CRB1:c.2234C>T chr1 194128355 194128358 RISN_CRB1:c.2244_2246delATC + CRB1:c.2244_2246delATC chr1 194128401 194128402 RISN_CRB1:c.2290C>T + CRB1:c.2290C>T chr1 194130400 194130401 RISN_CRB1:c.2842T>A + CRB1:c.2842T>A chr1 194135492 194135493 RISN_CRB1:c.2843G>A + CRB1:c.2843G>A chr1 194135632 194135633 RISN_CRB1:c.2983G>T + CRB1:c.2983G>T chr1 194135771 194135772 RISN_CRB1:c.3122T>C + CRB1:c.3122T>C chr1 194135861 194135862 RISN_CRB1:c.3212T>C + CRB1:c.3212T>C chr1 194128782 194128783 RISN_CRB1:c.2671T>G + CRB1:c.2671T>G chr1 194135948 194135949 RISN_CRB1:c.3299T>C + CRB1:c.3299T>C chr1 194029751 194029752 RISN_CRB1:c.614T>C + CRB1:c.614T>C chr1 194029248 194029249 RISN_CRB1:c.111delT + CRB1:c.111delT chr1 194029394 194029396 RISN_CRB1:c.257_258insGT + CRB1:c.257_258insGT chr1 194029565 194029570 RISN_CRB1:c.428_432del + CRB1:c.428_432del chr1 194029567 194029568 RISN_CRB1:c.430T>G + CRB1:c.430T>G chr1 194029748 194029755 RISN_CRB1:c.611_617del + CRB1:c.611_617del chr1 194029750 194029757 RISN_CRB1:c.613_619del + CRB1:c.613_619del chr1 194029753 194029759 RISN_CRB1:c.616_621del + CRB1:c.616_621del chr1 194048143 194048144 RISN_CRB1:c.866C>T + CRB1:c.866C>T chr1 194057776 194057777 RISN_CRB1:c.1148G>A + CRB1:c.1148G>A chr1 194122052 194122053 RISN_CRB1:c.1438T>C + CRB1:c.1438T>C chr1 194122053 194122054 RISN_CRB1:c.1439G>A + CRB1:c.1439G>A chr1 194122656 194122657 RISN_CRB1:c.2042G>A + CRB1:c.2042G>A chr1 194122742 194122743 RISN_CRB1:c.2128G>C + CRB1:c.2128G>C chr1 194128333 194128334 RISN_CRB1:c.2222T>C + CRB1:c.2222T>C chr1 194128552 194128553 RISN_CRB1:c.2441T>A + CRB1:c.2441T>A chr1 194128590 194128591 RISN_CRB1:c.2479G>T + CRB1:c.2479G>T chr1 194128659 194128663 RISN_CRB1:c.2548_2551del + CRB1:c.2548_2551del chr1 194128666 194128667 RISN_CRB1:c.2555T>C + CRB1:c.2555T>C chr1 194128724 194128725 RISN_CRB1:c.2613dupT + CRB1:c.2613dupT chr1 194130246 194130247 RISN_CRB1:c.2688T>A + CRB1:c.2688T>A chr1 194135502 194135503 RISN_CRB1:c.2853dupT + CRB1:c.2853dupT chr1 194135723 194135724 RISN_CRB1:c.3074G>T + CRB1:c.3074G>T chr1 194135948 194135949 RISN_CRB1:c.3299T>G + CRB1:c.3299T>G chr1 194135956 194135957 RISN_CRB1:c.3307G>A + CRB1:c.3307G>A chr1 194135969 194135970 RISN_CRB1:c.3320T>C + CRB1:c.3320T>C chr1 194135969 194135970 RISN_CRB1:c.3320T>G + CRB1:c.3320T>G chr1 194135980 194135981 RISN_CRB1:c.3331G>T + CRB1:c.3331G>T chr1 194135994 194135995 RISN_CRB1:c.3345delT + CRB1:c.3345delT chr1 194136263 194136264 RISN_CRB1:c.3614G>A + CRB1:c.3614G>A chr1 194142952 194142953 RISN_CRB1:c.3879G>A + CRB1:c.3879G>A chr1 194143022 194143023 RISN_CRB1:c.3949A>C + CRB1:c.3949A>C chr1 194143191 194143201 RISN_CRB1:c.4118_4127del + CRB1:c.4118_4127del chr1 194122024 194122025 RISN_CRB1:c.1410A>G + CRB1:c.1410A>G chr1 194122042 194122043 RISN_CRB1:c.1428C>T + CRB1:c.1428C>T chr1 194122261 194122262 RISN_CRB1:c.1647T>C + CRB1:c.1647T>C chr1 194130381 194130382 RISN_CRB1:c.2823G>A + CRB1:c.2823G>A chr1 194135820 194135821 RISN_CRB1:c.3171C>T + CRB1:c.3171C>T chr1 194143065 194143066 RISN_CRB1:c.3992G>A + CRB1:c.3992G>A chr1 194122649 194122650 RISN_CRB1:c.2035C>G + CRB1:c.2035C>G chr1 194128417 194128418 RISN_CRB1:c.2306G>A + CRB1:c.2306G>A chr1 194121912 194121913 RISN_CRB1:c.1298A>G + CRB1:c.1298A>G chr1 194128620 194128621 RISN_CRB1:c.2509G>C + CRB1:c.2509G>C chr1 194130239 194130240 RISN_CRB1:c.2681A>G + CRB1:c.2681A>G chr1 194136190 194136191 RISN_CRB1:c.3541T>C + CRB1:c.3541T>C chr6 35588392 35588393 RISN_TULP1:c.99+1G>A - TULP1:c.99+1G>A chr6 35586764 35586767 RISN_TULP1:c.350-2_350delAGA - TULP1:c.350-2_350delAGA chr6 35581859 35581860 RISN_TULP1:c.897delC - TULP1:c.897delC chr6 35579371 35579372 RISN_TULP1:c.1265C>G - TULP1:c.1265C>G chr6 35575849 35575850 RISN_TULP1:c.1381C>A - TULP1:c.1381C>A chr6 35575764 35575765 RISN_TULP1:c.1466A>G - TULP1:c.1466A>G chr6 35575734 35575735 RISN_TULP1:c.1495+1G>A - TULP1:c.1495+1G>A chr6 35587551 35587552 RISN_TULP1:c.200G>C - TULP1:c.200G>C chr6 35586731 35586755 RISN_TULP1:c.360_383del - TULP1:c.360_383del chr6 35585085 35585086 RISN_TULP1:c.719-19T>A - TULP1:c.719-19T>A chr6 35585051 35585052 RISN_TULP1:c.734C>T - TULP1:c.734C>T chr6 35585009 35585010 RISN_TULP1:c.776T>C - TULP1:c.776T>C chr6 35585002 35585003 RISN_TULP1:c.783C>G - TULP1:c.783C>G chr6 35584980 35584981 RISN_TULP1:c.805A>C - TULP1:c.805A>C chr6 35582037 35582038 RISN_TULP1:c.823-4A>C - TULP1:c.823-4A>C chr6 35575861 35575862 RISN_TULP1:c.1369A>G - TULP1:c.1369A>G chr6 35575738 35575739 RISN_TULP1:c.1492G>A - TULP1:c.1492G>A chr6 35574220 35574221 RISN_TULP1:c.1496-6C>A - TULP1:c.1496-6C>A chrX 18284433 18284434 RettBASE_CDKL5:c.-440G>T + NM_003159:c.-440G>T chrX 18284482 18284483 RettBASE_CDKL5:c.-391G>T + NM_003159:c.-391G>T chrX 18284608 18284609 RettBASE_CDKL5:c.-265C>G + NM_003159:c.-265C>G chrX 18284684 18284685 RettBASE_CDKL5:c.-189C>T + NM_003159:c.-189C>T chrX 152878487 152883977 RettBASE_c.-167-?_26+?del - AF030876.2:c.-167-?_26+?del chrX 152883906 152883977 RettBASE_c.-167-?_-99+?del - AF030876.2:c.-167-?_-99+?del chrX 152816663 152883977 RettBASE_c.-167-?_1461*?del - AF030876.2:c.-167-?_1461*?del chrX 152816663 152883977 RettBASE_c.-167-?_1461*?dup - AF030876.2:c.-167-?_1461*?dup chrX 152878487 152883977 RettBASE_c.-167-?_26+?del80000 - AF030876.2:c.-167-?_26+?del80000 chrX 152878528 152878529 RettBASE_c.-15C>T - AJ132917.1:c.-15C>T chrX 152817207 152817210 RettBASE_p.R306H - P51608:p.R306H chrX 152817669 152817672 RettBASE_p.P152R - P51608:p.P152R chrX 152818563 152818566 RettBASE_p.R106W - P51608:p.R106W chrX 152817726 152817729 RettBASE_p.R133C - P51608:p.R133C chrX 152817315 152817318 RettBASE_p.R270X - P51608:p.R270X chrX 152817219 152817222 RettBASE_p.P302R - P51608:p.P302R chrX 152818536 152818539 RettBASE_p.R115C - P51608:p.R115C chrX 152817207 152817210 RettBASE_p.R306C - P51608:p.R306C chrX 152817360 152817363 RettBASE_p.R255X - P51608:p.R255X chrX 152817744 152817747 RettBASE_p.P127L - P51608:p.P127L chrX 152817651 152817654 RettBASE_p.T158M - P51608:p.T158M chrX 152817621 152817624 RettBASE_p.R168X - P51608:p.R168X chrX 152817615 152817618 RettBASE_p.Q170X - P51608:p.Q170X chrX 152817450 152817453 RettBASE_p.P225R - P51608:p.P225R chrX 152817318 152817321 RettBASE_p.G269fsX288 - P51608:p.G269fsX288 chrX 152817243 152817246 RettBASE_p.R294X - P51608:p.R294X chrX 152817219 152817222 RettBASE_p.P302A - P51608:p.P302A chrX 152816967 152816970 RettBASE_p.L386fsX403 - P51608:p.L386fsX403 chrX 152816664 152816667 RettBASE_p.X487C - P51608:p.X487C chrX 152817516 152817519 RettBASE_p.T203M - P51608:p.T203M chrX 152817534 152817537 RettBASE_p.T197M - P51608:p.T197M chrX 152816895 152816898 RettBASE_p.S410N - P51608:p.S410N chrX 152816997 152817000 RettBASE_p.P376S - P51608:p.P376S chrX 152817309 152817312 RettBASE_p.P272L - P51608:p.P272L chrX 152816934 152816937 RettBASE_p.E397K - P51608:p.E397K chrX 152816808 152816811 RettBASE_p.A439T - P51608:p.A439T chrX 152818578 152818581 RettBASE_p.P101T - P51608:p.P101T chrX 152817006 152817009 RettBASE_p.S373X - P51608:p.S373X chrX 152818734 152818737 RettBASE_p.S49X - P51608:p.S49X chrX 152816966 152816994 RettBASE_1132_1159del28 - AJ132917.1:c.1132_1159del28 chrX 152816949 152816959 RettBASE_1167_1176del10 - AJ132917.1:c.1167_1176del10 chrX 152818590 152818593 RettBASE_p.D97Y - P51608:p.D97Y chrX 152817396 152817399 RettBASE_p.R243X - P51608:p.R243X chrX 152883943 152883996 RettBASE_c.MECP2E1:-27_26delinsTT - BX538060:c.-27_26delinsTT chrX 152883948 152883957 RettBASE_c.MECP2E1:13_21dupGCCGCCGCC - BX538060:c.13_21dupGCCGCCGCC chrX 152883948 152883954 RettBASE_c.MECP2E1:16_21delGCCGCC - BX538060:c.16_21delGCCGCC chrX 152883924 152883927 RettBASE_c.MECP2E1:43_45dupGGA - BX538060:c.43_45dupGGA chrX 152883920 152883921 RettBASE_c.MECP2E1:49G>A - BX538060:c.49G>A chrX 152816889 152817063 RettBASE_1063_1236del174 - AJ132917.1:c.1063_1236del174 chrX 152816894 152816937 RettBASE_1189_1231inv43 - AJ132917.1:c.1189_1231inv43 chrX 152883914 152883922 RettBASE_c.MeCP2_e1:48_55dup - BX538060:c.48_55dup chrX 152883946 152883952 RettBASE_c.MeCP2_e1:18_23dup - BX538060:c.18_23dup chrX 152883909 152883911 RettBASE_c.MeCP2_e1:59_60delGA - BX538060:c.59_60delGA chrX 152883912 152883923 RettBASE_c.MeCP2_e1:47_57del11 - BX538060:c.47_57del11 chrX 152883942 152883947 RettBASE_c.MeCP2_e1:23_27dupCGCCG - BX538060:c.23_27dupCGCCG chrX 152817657 152817658 RettBASE_468C>G - AJ132917.1:c.468C>G chrX 152818831 152818832 RettBASE_27+23C>T - AJ132917.1:c.27+23C>T chrX 152817209 152817210 RettBASE_916C>T - AJ132917.1:c.916C>T chrX 152817699 152817700 RettBASE_426C>T - AJ132917.1:c.426C>T chrX 152817623 152817624 RettBASE_502C>T - AJ132917.1:c.502C>T chrX 152816799 152816800 RettBASE_1326C>T - AJ132917.1:c.1326C>T chrX 152817317 152817318 RettBASE_808C>T - AJ132917.1:c.808C>T chrX 152818831 152818832 RettBASE_27+23C>G - AJ132917.1:c.27+23C>G chrX 18353147 18353151 RettBASE_c.CDKL5:163_166delGAAA + NM_003159:c.163_166delGAAA chrX 18406285 18406287 RettBASE_c.CDKL5:2635_2636delCT + NM_003159:c.2635_2636delCT chrX 152816917 152824545 RettBASE_27-5690_1208del7628ins42 - AJ132917.1:c.27-5690_1208del7628ins42 chrX 152817686 152817687 RettBASE_439G>A - AJ132917.1:c.439G>A chrX 152817291 152817292 RettBASE_834C>T - AJ132917.1:c.834C>T chrX 152817160 152817161 RettBASE_965C>T - AJ132917.1:c.965C>T chrX 152816958 152816968 RettBASE_1158_1167del10 - AJ132917.1:c.1158_1167del10 chrX 152816937 152816953 RettBASE_1173_1188del16 - AJ132917.1:c.1173_1188del16 chrX 152817597 152817598 RettBASE_528C>G - AJ132917.1:c.528C>G chrX 152817228 152817229 RettBASE_897C>T - AJ132917.1:c.897C>T chrX 152816674 152816675 RettBASE_1451G>C - AJ132917.1:c.1451G>C chrX 152816566 152816567 RettBASE_1461+98dupA - AJ132917.1:c.1461+98dupA chrX 152878487 152878515 RettBASE_c.1-?_26+?del - AJ132917.1:c.1-?_26+?del chrX 152883906 152883970 RettBASE_MeCP2_e1:c.1-?_62+?del - BX538060:c.1-?_62+?del chrX 152883946 152883952 RettBASE_MECP2_e1:c.18_23dup6 - BX538060:c.18_23dup6 chrX 152883946 152883952 RettBASE_MeCP2_e1:c.18_23dup - BX538060:c.18_23dup chrX 152883946 152883949 RettBASE_MECP2_e1:c.21_23dup3 - BX538060:c.21_23dup3 chrX 152878486 152878487 RettBASE_c.26+2T>A - AJ132917.1:c.26+2T>A chrX 152818862 152818863 RettBASE_c.27-8C>G - AJ132917.1:c.27-8C>G chrX 152818860 152818861 RettBASE_c.27-6C>G - AJ132917.1:c.27-6C>G chrX 152818856 152818857 RettBASE_c.27-2A>G - AJ132917.1:c.27-2A>G chrX 152816663 152818856 RettBASE_c.27-?_1461*?del - AJ132917.1:c.27-?_1461*?del chrX 152818863 152818864 RettBASE_c.27-9A>G - AJ132917.1:c.27-9A>G chrX 152811592 152831376 RettBASE_c.27-12521_1461*5072del19784 - AJ132917.1:c.27-12521_1461*5072del19784 chrX 152816663 152818856 RettBASE_c.27-?_1461*?del55700 - AJ132917.1:c.27-?_1461*?del55700 chrX 152816663 152818856 RettBASE_c.27-?_1461*?del32500 - AJ132917.1:c.27-?_1461*?del32500 chrX 152816663 152818856 RettBASE_c.27-?_1461*?del15000 - AJ132917.1:c.27-?_1461*?del15000 chrX 152818909 152818910 RettBASE_c.27-55G>A - AJ132917.1:c.27-55G>A chrX 152816787 152818856 RettBASE_c.27-?_1337+?del - AJ132917.1:c.27-?_1337+?del chrX 152816939 152818856 RettBASE_c.27-?_1185+?del - AJ132917.1:c.27-?_1185+?del chrX 152816663 152818856 RettBASE_c.27-?_1461+?del - AJ132917.1:c.27-?_1461+?del chrX 152818831 152818832 RettBASE_c.27+23C>G - AJ132917.1:c.27+23C>G chrX 152818853 152818854 RettBASE_c.28G>C - AJ132917.1:c.28G>C chrX 152883939 152883940 RettBASE_MECP2_e1:c.30delCinsGA - BX538060:c.30delCinsGA chrX 152818845 152818846 RettBASE_c.36G>C - AJ132917.1:c.36G>C chrX 152818838 152818840 RettBASE_c.42_43insAGTCAGAA - AJ132917.1:c.42_43insAGTCAGAA chrX 152883922 152883925 RettBASE_MECP2_e1:c.45_47dupAGG - BX538060:c.45_47dupAGG chrX 152818835 152818836 RettBASE_c.46C>T - AJ132917.1:c.46C>T chrX 152883912 152883923 RettBASE_MeCP2_e1:c.47_57del11 - BX538060:c.47_57del11 chrX 152818826 152818827 RettBASE_c.55C>T - AJ132917.1:c.55C>T chrX 152818817 152818818 RettBASE_c.64A>T - AJ132917.1:c.64A>T chrX 152818805 152818806 RettBASE_c.76delC - AJ132917.1:c.76delC chrX 152818790 152818791 RettBASE_c.91delG - AJ132917.1:c.91delG chrX 152818778 152818782 RettBASE_c.100_103delGATA - AJ132917.1:c.100_103delGATA chrX 18342210 18342211 RettBASE_CDKL5:c.100-43G>A + NM_003159:c.100-43G>A chrX 152818770 152818774 RettBASE_c.108_111delAGAA - AJ132917.1:c.108_111delAGAA chrX 152818755 152818756 RettBASE_c.126dupG - AJ132917.1:c.126dupG chrX 152818741 152818742 RettBASE_c.140dupA - AJ132917.1:c.140dupA chrX 152818735 152818736 RettBASE_c.146C>A - AJ132917.1:c.146C>A chrX 152818726 152818727 RettBASE_c.155A>G - AJ132917.1:c.155A>G chrX 152818713 152818715 RettBASE_c.167_168delCC - AJ132917.1:c.167_168delCC chrX 152818713 152818714 RettBASE_c.168C>T - AJ132917.1:c.168C>T chrX 18353159 18353160 RettBASE_CDKL5:c.175C>T + NM_003159:c.175C>T chrX 18353167 18353168 RettBASE_CDKL5:c.183delT + NM_003159:c.183delT chrX 152818691 152818693 RettBASE_c.189_190delGA - AJ132917.1:c.189_190delGA chrX 152818687 152818688 RettBASE_c.194C>G - AJ132917.1:c.194C>G chrX 152818680 152818681 RettBASE_c.201delG - AJ132917.1:c.201delG chrX 152818671 152818672 RettBASE_c.210C>T - AJ132917.1:c.210C>T chrX 152818666 152818667 RettBASE_c.215C>T - AJ132917.1:c.215C>T chrX 18353199 18353200 RettBASE_CDKL5:c.215T>A + NM_003159:c.215T>A chrX 152818666 152818667 RettBASE_c.215dupC - AJ132917.1:c.215dupC chrX 152818656 152818657 RettBASE_c.225G>A - AJ132917.1:c.225G>A chrX 152818643 152818653 RettBASE_c.229_238del10 - AJ132917.1:c.229_238del10 chrX 152818636 152818637 RettBASE_c.245A>G - AJ132917.1:c.245A>G chrX 152818631 152818633 RettBASE_c.249_250ins7 - AJ132917.1:c.249_250ins7 chrX 152818624 152818625 RettBASE_c.257C>G - AJ132917.1:c.257C>G chrX 152818622 152818624 RettBASE_c.258_259delCA - AJ132917.1:c.258_259delCA chrX 152818604 152818605 RettBASE_c.277C>T - AJ132917.1:c.277C>T chrX 152818592 152818593 RettBASE_c.289G>T - AJ132917.1:c.289G>T chrX 152818590 152818591 RettBASE_c.291C>A - AJ132917.1:c.291C>A chrX 152818584 152818585 RettBASE_c.297C>G - AJ132917.1:c.297C>G chrX 152818583 152818584 RettBASE_c.298C>G - AJ132917.1:c.298C>G chrX 152818582 152818583 RettBASE_c.299T>G - AJ132917.1:c.299T>G chrX 152818580 152818581 RettBASE_c.301C>T - AJ132917.1:c.301C>T chrX 152818579 152818580 RettBASE_c.302C>G - AJ132917.1:c.302C>G chrX 152818579 152818580 RettBASE_c.302C>A - AJ132917.1:c.302C>A chrX 152818579 152818580 RettBASE_c.302C>T - AJ132917.1:c.302C>T chrX 152818558 152818571 RettBASE_c.311_323del13 - AJ132917.1:c.311_323del13 chrX 152818570 152818571 RettBASE_c.311G>A - AJ132917.1:c.311G>A chrX 152818565 152818567 RettBASE_c.315_316insA - AJ132917.1:c.315_316insA chrX 152818565 152818566 RettBASE_c.316C>T - AJ132917.1:c.316C>T chrX 152818565 152818566 RettBASE_c.316C>G - AJ132917.1:c.316C>G chrX 152817208 152817209 RettBASE_c.917G>T - AJ132917.1:c.917G>T chrX 152817064 152817065 RettBASE_c.1061G>A - AJ132917.1:c.1061G>A chrX 152818564 152818565 RettBASE_c.317G>A - AJ132917.1:c.317G>A chrX 152818564 152818565 RettBASE_c.317G>T - AJ132917.1:c.317G>T chrX 152818558 152818559 RettBASE_c.323T>A - AJ132917.1:c.323T>A chrX 152818550 152818551 RettBASE_c.331A>G - AJ132917.1:c.331A>G chrX 152818540 152818541 RettBASE_c.341G>C - AJ132917.1:c.341G>C chrX 152818536 152818537 RettBASE_c.345delC - AJ132917.1:c.345delC chrX 152818519 152818520 RettBASE_c.362A>G - AJ132917.1:c.362A>G chrX 152818509 152818510 RettBASE_c.372G>C - AJ132917.1:c.372G>C chrX 152818506 152818507 RettBASE_c.375delC - AJ132917.1:c.375delC chrX 152818506 152818507 RettBASE_c.375C>A - AJ132917.1:c.375C>A chrX 152818482 152818483 RettBASE_c.377+22C>G - AJ132917.1:c.377+22C>G chrX 152818499 152818503 RettBASE_c.377+2_377+5delTAAG - AJ132917.1:c.377+2_377+5delTAAG chrX 152818409 152818410 RettBASE_c.377+95G>A - AJ132917.1:c.377+95G>A chrX 152817821 152817822 RettBASE_c.378-74C>T - AJ132917.1:c.378-74C>T chrX 152818486 152818487 RettBASE_c.377+18C>G - AJ132917.1:c.377+18C>G chrX 152818480 152818481 RettBASE_c.377+24C>A - AJ132917.1:c.377+24C>A chrX 152817766 152817767 RettBASE_c.378-19delT - AJ132917.1:c.378-19delT chrX 152817749 152817750 RettBASE_c.378-2A>G - AJ132917.1:c.378-2A>G chrX 152817808 152817809 RettBASE_c.378-61C>G - AJ132917.1:c.378-61C>G chrX 152817749 152817750 RettBASE_c.378-2A>C - AJ132917.1:c.378-2A>C chrX 152817988 152817989 RettBASE_c.378-241C>T - AJ132917.1:c.378-241C>T chrX 152816663 152817749 RettBASE_c.378-?_1461*?del - AJ132917.1:c.378-?_1461*?del chrX 152816571 152816572 RettBASE_c.1461*93G>A - AJ132917.1:c.1461*93G>A chrX 152817523 152817524 RettBASE_c.602C>T - AJ132917.1:c.602C>T chrX 152817750 152817751 RettBASE_c.378-3C>G - AJ132917.1:c.378-3C>G chrX 152817764 152817765 RettBASE_c.378-17delT - AJ132917.1:c.378-17delT chrX 152816787 152817749 RettBASE_c.378-?_1337+?del - AJ132917.1:c.378-?_1337+?del chrX 152816939 152817749 RettBASE_c.378-?_1185+?del - AJ132917.1:c.378-?_1185+?del chrX 152817745 152817746 RettBASE_c.380C>T - AJ132917.1:c.380C>T chrX 152817742 152817743 RettBASE_c.383A>C - AJ132917.1:c.383A>C chrX 152817739 152817740 RettBASE_c.386G>T - AJ132917.1:c.386G>T chrX 152817732 152817733 RettBASE_c.393C>G - AJ132917.1:c.393C>G chrX 152817728 152817729 RettBASE_c.397C>T - AJ132917.1:c.397C>T chrX 152817687 152817688 RettBASE_c.438C>T - AJ132917.1:c.438C>T chrX 152817728 152817729 RettBASE_c.397C>G - AJ132917.1:c.397C>G chrX 152817064 152817065 RettBASE_c.1061G>T - AJ132917.1:c.1061G>T chrX 152816918 152816962 RettBASE_c.1164_1207del44 - AJ132917.1:c.1164_1207del44 chrX 152817727 152817728 RettBASE_c.398G>A - AJ132917.1:c.398G>A chrX 152817727 152817728 RettBASE_c.398G>T - AJ132917.1:c.398G>T chrX 152817724 152817725 RettBASE_c.401C>G - AJ132917.1:c.401C>G chrX 152817724 152817725 RettBASE_c.401C>T - AJ132917.1:c.401C>T chrX 152817722 152817723 RettBASE_c.403A>G - AJ132917.1:c.403A>G chrX 18359666 18359667 RettBASE_CDKL5:c.404-1G>T + NM_003159:c.404-1G>T chrX 152817715 152817716 RettBASE_c.410A>G - AJ132917.1:c.410A>G chrX 152817714 152817715 RettBASE_c.411delG - AJ132917.1:c.411delG chrX 152817706 152817707 RettBASE_c.419C>T - AJ132917.1:c.419C>T chrX 152817702 152817704 RettBASE_c.422_423insA - AJ132917.1:c.422_423insA chrX 152817703 152817704 RettBASE_c.422A>G - AJ132917.1:c.422A>G chrX 152817702 152817703 RettBASE_c.423C>G - AJ132917.1:c.423C>G chrX 152817699 152817700 RettBASE_c.426C>T - AJ132917.1:c.426C>T chrX 152817699 152817700 RettBASE_MECP2:c.426C>T - AJ132917.1:c.426C>T chrX 152817696 152817698 RettBASE_c.428_429insT - AJ132917.1:c.428_429insT chrX 152817695 152817696 RettBASE_c.430A>T - AJ132917.1:c.430A>T chrX 152817694 152817695 RettBASE_c.431delA - AJ132917.1:c.431delA chrX 152817686 152817687 RettBASE_c.439delG - AJ132917.1:c.439delG chrX 152817674 152817675 RettBASE_c.451delG - AJ132917.1:c.451delG chrX 152817673 152817674 RettBASE_c.452A>G - AJ132917.1:c.452A>G chrX 152817670 152817671 RettBASE_c.455C>G - AJ132917.1:c.455C>G chrX 18359718 18359719 RettBASE_CDKL5:c.455G>T + NM_003159:c.455G>T chrX 152817670 152817671 RettBASE_c.455C>T - AJ132917.1:c.455C>T chrX 152817662 152817663 RettBASE_c.463T>A - AJ132917.1:c.463T>A chrX 18359748 18359749 RettBASE_CDKL5:c.463+22T>C + NM_003159:c.463+22T>C chrX 152817661 152817662 RettBASE_c.464T>C - AJ132917.1:c.464T>C chrX 152817661 152817662 RettBASE_c.464T>G - AJ132917.1:c.464T>G chrX 18362037 18362038 RettBASE_CDKL5:c.464-2A>G + NM_003159:c.464-2A>G chrX 152817658 152817659 RettBASE_c.467A>G - AJ132917.1:c.467A>G chrX 152817657 152817658 RettBASE_c.468C>G - AJ132917.1:c.468C>G chrX 152817656 152817658 RettBASE_c.468_469insC - AJ132917.1:c.468_469insC chrX 152817656 152817657 RettBASE_c.469T>A - AJ132917.1:c.469T>A chrX 152817653 152817654 RettBASE_c.472A>G - AJ132917.1:c.472A>G chrX 152817652 152817653 RettBASE_c.473C>T - AJ132917.1:c.473C>T chrX 152816936 152816937 RettBASE_c.1189G>A - AJ132917.1:c.1189G>A chrX 152817651 152817652 RettBASE_c.474G>A - AJ132917.1:c.474G>A chrX 152817646 152817647 RettBASE_c.479C>G - AJ132917.1:c.479C>G chrX 152817644 152817646 RettBASE_c.480_481delTG - AJ132917.1:c.480_481delTG chrX 152817644 152817645 RettBASE_c.481G>T - AJ132917.1:c.481G>T chrX 152817138 152817645 RettBASE_c.481_987del507ins8 - AJ132917.1:c.481_987del507ins8 chrX 152817643 152817644 RettBASE_c.482G>T - AJ132917.1:c.482G>T chrX 152817643 152817644 RettBASE_c.482G>A - AJ132917.1:c.482G>A chrX 152817642 152817643 RettBASE_c.483delG - AJ132917.1:c.483delG chrX 152817636 152817638 RettBASE_c.488_489delGG - AJ132917.1:c.488_489delGG chrX 152817626 152817627 RettBASE_c.499C>T - AJ132917.1:c.499C>T chrX 152817623 152817624 RettBASE_c.502C>T - AJ132917.1:c.502C>T chrX 152817430 152817431 RettBASE_c.695G>C - AJ132917.1:c.695G>C chrX 152817228 152817229 RettBASE_c.897C>T - AJ132917.1:c.897C>T chrX 152817375 152817376 RettBASE_c.750C>A - AJ132917.1:c.750C>A chrX 152817617 152817618 RettBASE_c.508C>T - AJ132917.1:c.508C>T chrX 152817611 152817612 RettBASE_c.514C>T - AJ132917.1:c.514C>T chrX 152817608 152817609 RettBASE_c.517C>G - AJ132917.1:c.517C>G chrX 152817602 152817603 RettBASE_c.523A>T - AJ132917.1:c.523A>T chrX 18362100 18362101 RettBASE_CDKL5:c.525A>T + NM_003159:c.525A>T chrX 152817598 152817599 RettBASE_c.527C>G - AJ132917.1:c.527C>G chrX 152817596 152817597 RettBASE_c.529A>T - AJ132917.1:c.529A>T chrX 152817594 152817595 RettBASE_c.531delA - AJ132917.1:c.531delA chrX 18362114 18362115 RettBASE_CDKL5:c.539C>T + NM_003159:c.539C>T chrX 152817583 152817584 RettBASE_c.542C>T - AJ132917.1:c.542C>T chrX 18362101 18362102 RettBASE_CDKL5:c.545-19C>G + NM_003159:c.545-19C>G chrX 152817578 152817579 RettBASE_c.547G>C - AJ132917.1:c.547G>C chrX 152817571 152817572 RettBASE_c.554delG - AJ132917.1:c.554delG chrX 152817559 152817560 RettBASE_c.566delG - AJ132917.1:c.566delG chrX 152817557 152817559 RettBASE_c.567_568insA - AJ132917.1:c.567_568insA chrX 152817552 152817553 RettBASE_c.573C>T - AJ132917.1:c.573C>T chrX 152817543 152817544 RettBASE_c.582C>T - AJ132917.1:c.582C>T chrX 152817540 152817541 RettBASE_c.585C>T - AJ132917.1:c.585C>T chrX 152817538 152817539 RettBASE_c.587C>G - AJ132917.1:c.587C>G chrX 152817535 152817536 RettBASE_c.590C>T - AJ132917.1:c.590C>T chrX 152817451 152817452 RettBASE_c.674C>G - AJ132917.1:c.674C>G chrX 152817534 152817535 RettBASE_c.591G>A - AJ132917.1:c.591G>A chrX 152817533 152817534 RettBASE_c.592A>T - AJ132917.1:c.592A>T chrX 152817527 152817528 RettBASE_c.598A>T - AJ132917.1:c.598A>T chrX 152817523 152817525 RettBASE_c.601_602insG - AJ132917.1:c.601_602insG chrX 152817517 152817518 RettBASE_c.608C>T - AJ132917.1:c.608C>T chrX 152817362 152817363 RettBASE_c.763C>T - AJ132917.1:c.763C>T chrX 152817516 152817517 RettBASE_c.609G>A - AJ132917.1:c.609G>A chrX 152817220 152817221 RettBASE_c.905C>T - AJ132917.1:c.905C>T chrX 152817514 152817515 RettBASE_c.611C>G - AJ132917.1:c.611C>G chrX 152817514 152817515 RettBASE_c.611C>A - AJ132917.1:c.611C>A chrX 152817513 152817514 RettBASE_c.612A>G - AJ132917.1:c.612A>G chrX 152817512 152817513 RettBASE_c.613G>T - AJ132917.1:c.613G>T chrX 152817508 152817509 RettBASE_c.617delG - AJ132917.1:c.617delG chrX 152817508 152817509 RettBASE_c.617G>C - AJ132917.1:c.617G>C chrX 152817504 152817506 RettBASE_c.620_621insT - AJ132917.1:c.620_621insT chrX 152817503 152817504 RettBASE_c.622C>T - AJ132917.1:c.622C>T chrX 152817496 152817497 RettBASE_c.629A>T - AJ132917.1:c.629A>T chrX 152817492 152817493 RettBASE_c.633G>C - AJ132917.1:c.633G>C chrX 152817470 152817491 RettBASE_c.635_655del21 - AJ132917.1:c.635_655del21 chrX 152817473 152817475 RettBASE_c.651_652delTG - AJ132917.1:c.651_652delTG chrX 152817468 152817472 RettBASE_c.654_657delGAAG - AJ132917.1:c.654_657delGAAG chrX 152817459 152817460 RettBASE_c.666C>G - AJ132917.1:c.666C>G chrX 152817451 152817452 RettBASE_c.674C>T - AJ132917.1:c.674C>T chrX 152817447 152817449 RettBASE_c.677_678insA - AJ132917.1:c.677_678insA chrX 18365853 18365867 RettBASE_CDKL5:c.678_691delins673_683inv + NM_003159:c.678_691delins673_683inv chrX 152817446 152817447 RettBASE_c.679C>G - AJ132917.1:c.679C>G chrX 152817442 152817443 RettBASE_c.683C>G - AJ132917.1:c.683C>G chrX 152817439 152817440 RettBASE_c.686C>T - AJ132917.1:c.686C>T chrX 152817435 152817436 RettBASE_c.690A>C - AJ132917.1:c.690A>C chrX 152817430 152817431 RettBASE_c.695delG - AJ132917.1:c.695delG chrX 152817429 152817430 RettBASE_c.696delC - AJ132917.1:c.696delC chrX 152817415 152817416 RettBASE_c.710dupG - AJ132917.1:c.710dupG chrX 152817415 152817416 RettBASE_c.710delG - AJ132917.1:c.710delG chrX 152817415 152817416 RettBASE_c.710G>T - AJ132917.1:c.710G>T chrX 152817410 152817411 RettBASE_c.715delG - AJ132917.1:c.715delG chrX 152817405 152817406 RettBASE_c.720dupC - AJ132917.1:c.720dupC chrX 152817405 152817406 RettBASE_c.720C>T - AJ132917.1:c.720C>T chrX 152817405 152817406 RettBASE_c.720C>G - AJ132917.1:c.720C>G chrX 152817395 152817396 RettBASE_c.730C>T - AJ132917.1:c.730C>T chrX 152816959 152817395 RettBASE_c.731_1166del436 - AJ132917.1:c.731_1166del436 chrX 152817366 152817392 RettBASE_c.734_759del26 - AJ132917.1:c.734_759del26 chrX 152817388 152817390 RettBASE_c.736_737insAT - AJ132917.1:c.736_737insAT chrX 152817386 152817387 RettBASE_c.739delG - AJ132917.1:c.739delG chrX 152817374 152817379 RettBASE_c.747_751dup5 - AJ132917.1:c.747_751dup5 chrX 152817377 152817378 RettBASE_c.748dupC - AJ132917.1:c.748dupC chrX 152817372 152817378 RettBASE_c.748_753del6insGGCCG - AJ132917.1:c.748_753del6insGGCCG chrX 152817375 152817377 RettBASE_c.749_750insCC - AJ132917.1:c.749_750insCC chrX 152817376 152817377 RettBASE_c.749G>A - AJ132917.1:c.749G>A chrX 152817374 152817376 RettBASE_c.750_751insC - AJ132917.1:c.750_751insC chrX 152817375 152817376 RettBASE_c.750C>T - AJ132917.1:c.750C>T chrX 152816666 152816667 RettBASE_c.1459T>C - AJ132917.1:c.1459T>C chrX 152817375 152817376 RettBASE_c.750delCins11 - AJ132917.1:c.750delCins11 chrX 152817373 152817374 RettBASE_c.752C>T - AJ132917.1:c.752C>T chrX 152816934 152817088 RettBASE_c.1038_1191del154 - AJ132917.1:c.1038_1191del154 chrX 152817372 152817373 RettBASE_c.753delC - AJ132917.1:c.753delC chrX 152817372 152817373 RettBASE_c.753C>T - AJ132917.1:c.753C>T chrX 152817370 152817372 RettBASE_c.754_755insC - AJ132917.1:c.754_755insC chrX 152817370 152817371 RettBASE_c.755delG - AJ132917.1:c.755delG chrX 152817366 152817370 RettBASE_c.756_759delCAGG - AJ132917.1:c.756_759delCAGG chrX 152817362 152817370 RettBASE_c.756_763dup - AJ132917.1:c.756_763dup chrX 152817365 152817366 RettBASE_c.760A>T - AJ132917.1:c.760A>T chrX 152816676 152816677 RettBASE_c.1449G>C - AJ132917.1:c.1449G>C chrX 152817054 152817055 RettBASE_c.1071C>T - AJ132917.1:c.1071C>T chrX 152816892 152816893 RettBASE_c.1233C>T - AJ132917.1:c.1233C>T chrX 152817360 152817362 RettBASE_c.764_765ins8 - AJ132917.1:c.764_765ins8 chrX 152817348 152817349 RettBASE_c.777C>T - AJ132917.1:c.777C>T chrX 152816928 152816969 RettBASE_c.1157_1197del41 - AJ132917.1:c.1157_1197del41 chrX 152817332 152817334 RettBASE_c.792_793delTC - AJ132917.1:c.792_793delTC chrX 152817326 152817327 RettBASE_c.799A>T - AJ132917.1:c.799A>T chrX 152817323 152817324 RettBASE_c.802C>T - AJ132917.1:c.802C>T chrX 152817317 152817318 RettBASE_c.808C>T - AJ132917.1:c.808C>T chrX 152817319 152817320 RettBASE_c.806delG - AJ132917.1:c.806delG chrX 152816656 152816657 RettBASE_c.1461*8C>T - AJ132917.1:c.1461*8C>T chrX 152816539 152817319 RettBASE_c.807_1461*125del780 - AJ132917.1:c.807_1461*125del780 chrX 152817317 152817318 RettBASE_c.808delC - AJ132917.1:c.808delC chrX 152817307 152817314 RettBASE_c.812_818del7 - AJ132917.1:c.812_818del7 chrX 152817310 152817311 RettBASE_c.815C>T - AJ132917.1:c.815C>T chrX 152817293 152817310 RettBASE_c.816_832del17 - AJ132917.1:c.816_832del17 chrX 152817306 152817307 RettBASE_c.819G>T - AJ132917.1:c.819G>T chrX 152816964 152816965 RettBASE_c.1161C>T - AJ132917.1:c.1161C>T chrX 152817295 152817296 RettBASE_c.830delC - AJ132917.1:c.830delC chrX 152817291 152817292 RettBASE_c.834C>T - AJ132917.1:c.834C>T chrX 152817289 152817290 RettBASE_c.836C>T - AJ132917.1:c.836C>T chrX 18376250 18376260 RettBASE_CDKL5:c.838_847del10 + NM_003159:c.838_847del10 chrX 152817285 152817286 RettBASE_c.840C>T - AJ132917.1:c.840C>T chrX 152817282 152817283 RettBASE_c.843C>T - AJ132917.1:c.843C>T chrX 152816889 152817277 RettBASE_c.849_1236del388 - AJ132917.1:c.849_1236del388 chrX 152817276 152817277 RettBASE_c.849C>G - AJ132917.1:c.849C>G chrX 152817275 152817277 RettBASE_c.849_850insA - AJ132917.1:c.849_850insA chrX 152817275 152817276 RettBASE_c.850A>G - AJ132917.1:c.850A>G chrX 152817266 152817270 RettBASE_c.856_859delAAAG - AJ132917.1:c.856_859delAAAG chrX 152817266 152817270 RettBASE_c.856_859del4 - AJ132917.1:c.856_859del4 chrX 152817266 152817267 RettBASE_c.859G>C - AJ132917.1:c.859G>C chrX 152817261 152817263 RettBASE_c.863_864insG - AJ132917.1:c.863_864insG chrX 152817260 152817261 RettBASE_c.865A>T - AJ132917.1:c.865A>T chrX 152817254 152817255 RettBASE_c.871T>G - AJ132917.1:c.871T>G chrX 152817250 152817252 RettBASE_c.874_875insA - AJ132917.1:c.874_875insA chrX 152817245 152817246 RettBASE_c.880C>T - AJ132917.1:c.880C>T chrX 152816799 152816800 RettBASE_c.1326C>T - AJ132917.1:c.1326C>T chrX 152816695 152816696 RettBASE_c.1430G>C - AJ132917.1:c.1430G>C chrX 152817241 152817246 RettBASE_c.880_884del5 - AJ132917.1:c.880_884del5 chrX 152816655 152816656 RettBASE_c.1461*9G>A - AJ132917.1:c.1461*9G>A chrX 152816956 152817245 RettBASE_c.881_1169del289 - AJ132917.1:c.881_1169del289 chrX 152816929 152816937 RettBASE_c.1189_1196del8 - AJ132917.1:c.1189_1196del8 chrX 152817244 152817245 RettBASE_c.881G>C - AJ132917.1:c.881G>C chrX 152817236 152817237 RettBASE_c.889C>T - AJ132917.1:c.889C>T chrX 152816925 152816971 RettBASE_c.1155_1200del46 - AJ132917.1:c.1155_1200del46 chrX 152817026 152817228 RettBASE_c.898_1099del202 - AJ132917.1:c.898_1099del202 chrX 152817227 152817228 RettBASE_c.898G>A - AJ132917.1:c.898G>A chrX 152817221 152817228 RettBASE_c.898_904del7 - AJ132917.1:c.898_904del7 chrX 152817224 152817228 RettBASE_c.898_901del - AJ132917.1:c.898_901del chrX 152817222 152817223 RettBASE_c.903C>T - AJ132917.1:c.903C>T chrX 152817221 152817222 RettBASE_c.904C>G - AJ132917.1:c.904C>G chrX 152817221 152817222 RettBASE_c.904C>T - AJ132917.1:c.904C>T chrX 152817220 152817221 RettBASE_c.905C>A - AJ132917.1:c.905C>A chrX 152817220 152817221 RettBASE_c.905C>G - AJ132917.1:c.905C>G chrX 152817219 152817220 RettBASE_c.906C>G - AJ132917.1:c.906C>G chrX 152817216 152817217 RettBASE_c.909C>G - AJ132917.1:c.909C>G chrX 152817215 152817216 RettBASE_c.910A>G - AJ132917.1:c.910A>G chrX 152817211 152817212 RettBASE_c.914A>G - AJ132917.1:c.914A>G chrX 152816953 152817212 RettBASE_c.914_1172del259 - AJ132917.1:c.914_1172del259 chrX 152817209 152817210 RettBASE_c.916C>T - AJ132917.1:c.916C>T chrX 152817141 152817142 RettBASE_c.984C>T - AJ132917.1:c.984C>T chrX 152817208 152817209 RettBASE_c.917G>A - AJ132917.1:c.917G>A chrX 152817200 152817201 RettBASE_c.925C>T - AJ132917.1:c.925C>T chrX 152817193 152817194 RettBASE_c.932C>T - AJ132917.1:c.932C>T chrX 152817183 152817184 RettBASE_c.942C>T - AJ132917.1:c.942C>T chrX 152817177 152817178 RettBASE_c.948C>G - AJ132917.1:c.948C>G chrX 152817172 152817173 RettBASE_c.953A>C - AJ132917.1:c.953A>C chrX 152817161 152817162 RettBASE_c.964C>G - AJ132917.1:c.964C>G chrX 152817161 152817162 RettBASE_c.964C>T - AJ132917.1:c.964C>T chrX 152817160 152817161 RettBASE_c.965C>T - AJ132917.1:c.965C>T chrX 152817126 152817127 RettBASE_c.999G>T - AJ132917.1:c.999G>T chrX 152817155 152817161 RettBASE_c.965_970del6 - AJ132917.1:c.965_970del6 chrX 152817098 152817100 RettBASE_c.1026_1027insG - AJ132917.1:c.1026_1027insG chrX 152816917 152816988 RettBASE_c.1138_1208del71 - AJ132917.1:c.1138_1208del71 chrX 18381676 18381677 RettBASE_CDKL5:c.978-2A>G + NM_003159:c.978-2A>G chrX 152816962 152816965 RettBASE_c.1161_1163delCCC - AJ132917.1:c.1161_1163delCCC chrX 152817129 152817137 RettBASE_c.989_996del8ins18 - AJ132917.1:c.989_996del8ins18 chrX 152817131 152817134 RettBASE_c.992_994delAGA - AJ132917.1:c.992_994delAGA chrX 152817096 152817097 RettBASE_c.1029delG - AJ132917.1:c.1029delG chrX 152816932 152816966 RettBASE_c.1160_1193del34bp - AJ132917.1:c.1160_1193del34bp chrX 152816779 152817132 RettBASE_c.994_1346del353 - AJ132917.1:c.994_1346del353 chrX 152817127 152817132 RettBASE_c.994_998delAGCGG - AJ132917.1:c.994_998delAGCGG chrX 152817128 152817130 RettBASE_c.996_997insAG - AJ132917.1:c.996_997insAG chrX 152816932 152817114 RettBASE_c.1012_1193del182 - AJ132917.1:c.1012_1193del182 chrX 152802192 152817103 RettBASE_c.1023_1461*14472del14911 - AJ132917.1:c.1023_1461*14472del14911 chrX 152816930 152817096 RettBASE_c.1030_1195del166insGT - AJ132917.1:c.1030_1195del166insGT chrX 152817095 152817096 RettBASE_c.1030C>T - AJ132917.1:c.1030C>T chrX 152817090 152817091 RettBASE_c.1035A>G - AJ132917.1:c.1035A>G chrX 152817006 152817088 RettBASE_c.1038_1119del82 - AJ132917.1:c.1038_1119del82 chrX 152816786 152816957 RettBASE_c.1169_1339del171 - AJ132917.1:c.1169_1339del171 chrX 152817087 152817088 RettBASE_c.1038C>G - AJ132917.1:c.1038C>G chrX 152816930 152817087 RettBASE_c.1039_1195del157insGT - AJ132917.1:c.1039_1195del157insGT chrX 152816635 152817085 RettBASE_c.1041_1461*29del450 - AJ132917.1:c.1041_1461*29del450 chrX 152816925 152817074 RettBASE_c.1052_1200del149 - AJ132917.1:c.1052_1200del149 chrX 152817071 152817073 RettBASE_c.1053_1054ins10 - AJ132917.1:c.1053_1054ins10 chrX 152816926 152816981 RettBASE_c.1145_1199del55 - AJ132917.1:c.1145_1199del55 chrX 152816906 152817069 RettBASE_c.1057_1219del163 - AJ132917.1:c.1057_1219del163 chrX 152816969 152817065 RettBASE_c.1061_1156del96 - AJ132917.1:c.1061_1156del96 chrX 152817054 152817057 RettBASE_c.1069_1071delAGC - AJ132917.1:c.1069_1071delAGC chrX 152816947 152817051 RettBASE_c.1075_1178del104 - AJ132917.1:c.1075_1178del104 chrX 152817050 152817051 RettBASE_c.1075T>C - AJ132917.1:c.1075T>C chrX 152817046 152817047 RettBASE_c.1079C>A - AJ132917.1:c.1079C>A chrX 152817044 152817045 RettBASE_c.1081C>G - AJ132917.1:c.1081C>G chrX 152816909 152817041 RettBASE_c.1085_1216del132 - AJ132917.1:c.1085_1216del132 chrX 152817038 152817039 RettBASE_c.1087A>T - AJ132917.1:c.1087A>T chrX 152816924 152817030 RettBASE_c.1096_1201del106 - AJ132917.1:c.1096_1201del106 chrX 152816651 152817029 RettBASE_c.1097_1461*13del378 - AJ132917.1:c.1097_1461*13del378 chrX 152816922 152817029 RettBASE_c.1097_1203del107 - AJ132917.1:c.1097_1203del107 chrX 152817007 152817027 RettBASE_c.1099_1118del20 - AJ132917.1:c.1099_1118del20 chrX 152816937 152817026 RettBASE_c.1100_1188del89 - AJ132917.1:c.1100_1188del89 chrX 152816924 152817025 RettBASE_c.1101_1201del101 - AJ132917.1:c.1101_1201del101 chrX 152816728 152817025 RettBASE_c.1101_1396+?del - AJ132917.1:c.1101_1396+?del chrX 152816953 152817023 RettBASE_c.1103_1172del70 - AJ132917.1:c.1103_1172del70 chrX 152816934 152816941 RettBASE_c.1185_1191del7 - AJ132917.1:c.1185_1191del7 chrX 152817019 152817022 RettBASE_c.1104_1106del3 - AJ132917.1:c.1104_1106del3 chrX 152817021 152817022 RettBASE_c.1104C>T - AJ132917.1:c.1104C>T chrX 152816798 152817019 RettBASE_c.1107_1327del221 - AJ132917.1:c.1107_1327del221 chrX 152816924 152817011 RettBASE_c.1115_1201del87 - AJ132917.1:c.1115_1201del87 chrX 152816924 152817010 RettBASE_c.1116_1201del86 - AJ132917.1:c.1116_1201del86 chrX 152816825 152817008 RettBASE_c.1118_1300del183ins61 - AJ132917.1:c.1118_1300del183ins61 chrX 152816934 152817005 RettBASE_c.1121_1191del71 - AJ132917.1:c.1121_1191del71 chrX 152816934 152817003 RettBASE_c.1123_1191del69 - AJ132917.1:c.1123_1191del69 chrX 152816923 152817003 RettBASE_c.1123_1202del80 - AJ132917.1:c.1123_1202del80 chrX 152816988 152817001 RettBASE_c.1125_1137del13 - AJ132917.1:c.1125_1137del13 chrX 152816999 152817000 RettBASE_c.1126C>T - AJ132917.1:c.1126C>T chrX 152816946 152816999 RettBASE_c.1127_1179del53 - AJ132917.1:c.1127_1179del53 chrX 152816998 152816999 RettBASE_c.1127C>G - AJ132917.1:c.1127C>G chrX 152816932 152816997 RettBASE_c.1129_1193del65 - AJ132917.1:c.1129_1193del65 chrX 152816923 152816994 RettBASE_c.1132_1202del71 - AJ132917.1:c.1132_1202del71 chrX 152816983 152816991 RettBASE_c.1135_1142delCCCGTGCC - AJ132917.1:c.1135_1142delCCCGTGCC chrX 152816983 152816990 RettBASE_c.1136_1142del7 - AJ132917.1:c.1136_1142del7 chrX 152816988 152816989 RettBASE_c.1137C>T - AJ132917.1:c.1137C>T chrX 152816984 152816985 RettBASE_c.1141C>G - AJ132917.1:c.1141C>G chrX 152816931 152816981 RettBASE_c.1145_1194del50 - AJ132917.1:c.1145_1194del50 chrX 152816933 152816976 RettBASE_c.1150_1192del43 - AJ132917.1:c.1150_1192del43 chrX 152816937 152816975 RettBASE_c.1151_1188del38 - AJ132917.1:c.1151_1188del38 chrX 152816934 152816975 RettBASE_c.1151_1191del41 - AJ132917.1:c.1151_1191del41 chrX 152816930 152816974 RettBASE_c.1152_1195del44 - AJ132917.1:c.1152_1195del44 chrX 152816970 152816974 RettBASE_c.1152_1155del4 - AJ132917.1:c.1152_1155del4 chrX 152816933 152816974 RettBASE_c.1152_1192del41 - AJ132917.1:c.1152_1192del41 chrX 152816935 152816973 RettBASE_c.1153_1190del38 - AJ132917.1:c.1153_1190del38 chrX 152816940 152816972 RettBASE_c.1154_1185del32 - AJ132917.1:c.1154_1185del32 chrX 152816928 152816972 RettBASE_c.1154_1197del44 - AJ132917.1:c.1154_1197del44 chrX 152816925 152816970 RettBASE_c.1156_1200del45 - AJ132917.1:c.1156_1200del45 chrX 152816853 152816970 RettBASE_c.1156_1272del117 - AJ132917.1:c.1156_1272del117 chrX 152816925 152816969 RettBASE_c.1157_1200del44 - AJ132917.1:c.1157_1200del44 chrX 152816938 152816969 RettBASE_c.1157_1187del31 - AJ132917.1:c.1157_1187del31 chrX 152816885 152816894 RettBASE_c.1232_1240del9 - AJ132917.1:c.1232_1240del9 chrX 152816937 152816969 RettBASE_c.1157_1188del32 - AJ132917.1:c.1157_1188del32 chrX 152816934 152816969 RettBASE_c.1157_1191del35 - AJ132917.1:c.1157_1191del35 chrX 152816933 152816969 RettBASE_c.1157_1192del36 - AJ132917.1:c.1157_1192del36 chrX 152816925 152816968 RettBASE_c.1158_1200del43 - AJ132917.1:c.1158_1200del43 chrX 152816958 152816968 RettBASE_c.1158_1167del10 - AJ132917.1:c.1158_1167del10 chrX 152816939 152816968 RettBASE_c.1158_1186del29 - AJ132917.1:c.1158_1186del29 chrX 152816924 152816968 RettBASE_c.1158_1201del44 - AJ132917.1:c.1158_1201del44 chrX 152816924 152816967 RettBASE_c.1159_1201del43 - AJ132917.1:c.1159_1201del43 chrX 152816915 152816967 RettBASE_c.1159_1210del52 - AJ132917.1:c.1159_1210del52 chrX 152816940 152816966 RettBASE_c.1160_1185del26 - AJ132917.1:c.1160_1185del26 chrX 152816925 152816966 RettBASE_c.1160_1200del41 - AJ132917.1:c.1160_1200del41 chrX 152816965 152816966 RettBASE_c.1160C>T - AJ132917.1:c.1160C>T chrX 152816937 152816966 RettBASE_c.1160_1188del29 - AJ132917.1:c.1160_1188del29 chrX 152816945 152816966 RettBASE_c.1160_1180del21 - AJ132917.1:c.1160_1180del21 chrX 152816725 152816965 RettBASE_c.1161_1400del240 - AJ132917.1:c.1161_1400del240 chrX 152816959 152816965 RettBASE_c.1161_1166del6 - AJ132917.1:c.1161_1166del6 chrX 152816920 152816946 RettBASE_c.1180_1205del26 - AJ132917.1:c.1180_1205del26 chrX 152816920 152816965 RettBASE_c.1161_1205del45insA - AJ132917.1:c.1161_1205del45insA chrX 152816946 152816964 RettBASE_c.1162_1179del18 - AJ132917.1:c.1162_1179del18 chrX 152816963 152816964 RettBASE_c.1162C>T - AJ132917.1:c.1162C>T chrX 152816961 152816964 RettBASE_p.P388X - P51608:p.P388X chrX 152816934 152816964 RettBASE_c.1162_1191del30 - AJ132917.1:c.1162_1191del30 chrX 152816928 152816963 RettBASE_c.1163_1197del35 - AJ132917.1:c.1163_1197del35 chrX 152816937 152816963 RettBASE_c.1163_1188del26 - AJ132917.1:c.1163_1188del26 chrX 152816909 152816963 RettBASE_c.1163_1216del54 - AJ132917.1:c.1163_1216del54 chrX 152816952 152816963 RettBASE_c.1163_1173del11 - AJ132917.1:c.1163_1173del11 chrX 152816932 152816950 RettBASE_c.1176_1193del18 - AJ132917.1:c.1176_1193del18 chrX 152816625 152816963 RettBASE_c.1163_1461*39del338 - AJ132917.1:c.1163_1461*39del338 chrX 152816946 152816963 RettBASE_c.1163_1179del17 - AJ132917.1:c.1163_1179del17 chrX 152816962 152816963 RettBASE_c.1163C>T - AJ132917.1:c.1163C>T chrX 152816919 152816962 RettBASE_c.1164_1206del43 - AJ132917.1:c.1164_1206del43 chrX 152816917 152816962 RettBASE_c.1164_1208del45 - AJ132917.1:c.1164_1208del45 chrX 152816892 152816961 RettBASE_c.1165_1233del69ins21 - AJ132917.1:c.1165_1233del69ins21 chrX 152816935 152816961 RettBASE_c.1165_1190del26 - AJ132917.1:c.1165_1190del26 chrX 152816925 152816959 RettBASE_c.1167_1200del34 - AJ132917.1:c.1167_1200del34 chrX 152816952 152816958 RettBASE_c.1168_1173del6 - AJ132917.1:c.1168_1173del6 chrX 152816949 152816950 RettBASE_c.1176G>A - AJ132917.1:c.1176G>A chrX 152816945 152816946 RettBASE_c.1180G>A - AJ132917.1:c.1180G>A chrX 152816935 152816937 RettBASE_c.1189_1190insA - AJ132917.1:c.1189_1190insA chrX 152816609 152816610 RettBASE_c.1461*55C>G - AJ132917.1:c.1461*55C>G chrX 152816930 152816932 RettBASE_c.1194_1195insT - AJ132917.1:c.1194_1195insT chrX 152816929 152816930 RettBASE_c.1196C>T - AJ132917.1:c.1196C>T chrX 152816928 152816929 RettBASE_c.1197C>T - AJ132917.1:c.1197C>T chrX 152816926 152816928 RettBASE_c.1198_1199insC - AJ132917.1:c.1198_1199insC chrX 152816923 152816924 RettBASE_c.1202G>A - AJ132917.1:c.1202G>A chrX 152816920 152816921 RettBASE_c.1205C>T - AJ132917.1:c.1205C>T chrX 152816919 152816920 RettBASE_c.1206C>T - AJ132917.1:c.1206C>T chrX 152816911 152816912 RettBASE_c.1214C>T - AJ132917.1:c.1214C>T chrX 152816910 152816911 RettBASE_c.1215C>T - AJ132917.1:c.1215C>T chrX 152816909 152816910 RettBASE_c.1216C>T - AJ132917.1:c.1216C>T chrX 152816860 152816903 RettBASE_c.1223_1265del43 - AJ132917.1:c.1223_1265del43 chrX 152816891 152816892 RettBASE_c.1234G>A - AJ132917.1:c.1234G>A chrX 152816865 152816891 RettBASE_c.1235_1260del26 - AJ132917.1:c.1235_1260del26 chrX 152816886 152816887 RettBASE_c.1239C>T - AJ132917.1:c.1239C>T chrX 152816875 152816876 RettBASE_c.1250A>T - AJ132917.1:c.1250A>T chrX 152816836 152816861 RettBASE_c.1265_1289del25insAGCGGCCG - AJ132917.1:c.1265_1289del25insAGCGGCCG chrX 152816859 152816860 RettBASE_c.1266C>T - AJ132917.1:c.1266C>T chrX 152816709 152816855 RettBASE_c.1271_1416del146 - AJ132917.1:c.1271_1416del146 chrX 152816843 152816844 RettBASE_c.1282G>A - AJ132917.1:c.1282G>A chrX 152816816 152816818 RettBASE_c.1308_1309delTC - AJ132917.1:c.1308_1309delTC chrX 152816810 152816811 RettBASE_c.1315G>A - AJ132917.1:c.1315G>A chrX 152816761 152816802 RettBASE_c.1324_1364del41 - AJ132917.1:c.1324_1364del41 chrX 152816801 152816802 RettBASE_c.1324A>G - AJ132917.1:c.1324A>G chrX 152816795 152816796 RettBASE_c.1330G>A - AJ132917.1:c.1330G>A chrX 152816783 152816796 RettBASE_c.1330_1342del13 - AJ132917.1:c.1330_1342del13 chrX 18382030 18382031 RettBASE_CDKL5:c.1330C>T + NM_003159:c.1330C>T chrX 152816790 152816791 RettBASE_c.1335G>A - AJ132917.1:c.1335G>A chrX 152816663 152816791 RettBASE_c.1336-?_1461+?del - AJ132917.1:c.1336-?_1461+?del chrX 152816785 152816786 RettBASE_c.1340C>T - AJ132917.1:c.1340C>T chrX 152816768 152816769 RettBASE_c.1357C>T - AJ132917.1:c.1357C>T chrX 152816767 152816768 RettBASE_c.1358G>A - AJ132917.1:c.1358G>A chrX 152816760 152816762 RettBASE_c.1364_1365insC - AJ132917.1:c.1364_1365insC chrX 152816753 152816754 RettBASE_c.1372C>T - AJ132917.1:c.1372C>T chrX 152816721 152816722 RettBASE_c.1404G>A - AJ132917.1:c.1404G>A chrX 152816709 152816711 RettBASE_c.1415_1416delAG - AJ132917.1:c.1415_1416delAG chrX 152816687 152816688 RettBASE_c.1438C>T - AJ132917.1:c.1438C>T chrX 152816684 152816685 RettBASE_c.1441G>A - AJ132917.1:c.1441G>A chrX 152816679 152816680 RettBASE_c.1446C>T - AJ132917.1:c.1446C>T chrX 152816652 152816676 RettBASE_c.1450_1461*12del24 - AJ132917.1:c.1450_1461*12del24 chrX 152816668 152816672 RettBASE_c.1454_1457del4 - AJ132917.1:c.1454_1457del4 chrX 152816664 152816665 RettBASE_c.1461A>C - AJ132917.1:c.1461A>C chrX 152816664 152816665 RettBASE_c.1461A>G - AJ132917.1:c.1461A>G chrX 152816565 152816567 RettBASE_c.1461*98_1461*99insA - AJ132917.1:c.1461*98_1461*99insA chrX 152816542 152816543 RettBASE_c.1461*122delT - AJ132917.1:c.1461*122delT chrX 152816566 152816567 RettBASE_c.1461*98dupA - AJ132917.1:c.1461*98dupA chrX 152816487 152816488 RettBASE_c.1461*177G>C - AJ132917.1:c.1461*177G>C chrX 152811316 152811317 RettBASE_c.1461*5348T>C - AJ132917.1:c.1461*5348T>C chrX 152816628 152816629 RettBASE_c.1461*36G>C - AJ132917.1:c.1461*36G>C chrX 152816525 152816526 RettBASE_c.1461*139G>A - AJ132917.1:c.1461*139G>A chrX 152816572 152816573 RettBASE_c.1461*92C>T - AJ132917.1:c.1461*92C>T chrX 152816336 152816337 RettBASE_c.1461*328G>A - AJ132917.1:c.1461*328G>A chrX 152816305 152816306 RettBASE_c.1461*359G>C - AJ132917.1:c.1461*359G>C chrX 152816301 152816302 RettBASE_c.1461*363G>C - AJ132917.1:c.1461*363G>C chrX 152816460 152816461 RettBASE_c.1461*204G>A - AJ132917.1:c.1461*204G>A chrX 152816293 152816294 RettBASE_c.1461*371G>C - AJ132917.1:c.1461*371G>C chrX 152816120 152816121 RettBASE_c.1461*544G>A - AJ132917.1:c.1461*544G>A chrX 152816110 152816111 RettBASE_c.1461*554G>A - AJ132917.1:c.1461*554G>A chrX 152815897 152815898 RettBASE_c.1461*767G>T - AJ132917.1:c.1461*767G>T chrX 152815803 152815804 RettBASE_c.1461*861T>G - AJ132917.1:c.1461*861T>G chrX 152815786 152815787 RettBASE_c.1461*878C>G - AJ132917.1:c.1461*878C>G chrX 152815296 152815297 RettBASE_c.1461*1368C>A - AJ132917.1:c.1461*1368C>A chrX 152814927 152814928 RettBASE_c.1461*1737G>A - AJ132917.1:c.1461*1737G>A chrX 152814108 152814109 RettBASE_c.1461*2556T>A - AJ132917.1:c.1461*2556T>A chrX 152814007 152814008 RettBASE_c.1461*2657G>A - AJ132917.1:c.1461*2657G>A chrX 152813958 152813959 RettBASE_c.1461*2706G>A - AJ132917.1:c.1461*2706G>A chrX 152813708 152813709 RettBASE_c.1461*2956G>A - AJ132917.1:c.1461*2956G>A chrX 152813187 152813188 RettBASE_c.1461*3477G>A - AJ132917.1:c.1461*3477G>A chrX 152813006 152813007 RettBASE_c.1461*3658C>T - AJ132917.1:c.1461*3658C>T chrX 152812786 152812787 RettBASE_c.1461*3878G>C - AJ132917.1:c.1461*3878G>C chrX 152812088 152812089 RettBASE_c.1461*4576A>C - AJ132917.1:c.1461*4576A>C chrX 152808916 152808917 RettBASE_c.1461*7748C>T - AJ132917.1:c.1461*7748C>T chrX 152808808 152808809 RettBASE_c.1461*7856A>C - AJ132917.1:c.1461*7856A>C chrX 152808161 152808162 RettBASE_c.1461*8503delC - AJ132917.1:c.1461*8503delC chrX 152808161 152808162 RettBASE_c.1461*8503dupC - AJ132917.1:c.1461*8503dupC chrX 152816271 152816272 RettBASE_c.1461*393G>A - AJ132917.1:c.1461*393G>A chrX 152816175 152816176 RettBASE_c.1461*489G>C - AJ132917.1:c.1461*489G>C chrX 152816135 152816136 RettBASE_c.1461*529G>T - AJ132917.1:c.1461*529G>T chrX 152815858 152815859 RettBASE_c.1461*806G>A - AJ132917.1:c.1461*806G>A chrX 152815833 152815834 RettBASE_c.1461*831G>C - AJ132917.1:c.1461*831G>C chrX 152815789 152815790 RettBASE_c.1461*875dupA - AJ132917.1:c.1461*875dupA chrX 152815427 152815428 RettBASE_c.1461*1237T>C - AJ132917.1:c.1461*1237T>C chrX 152813002 152813003 RettBASE_c.1461*3662A>G - AJ132917.1:c.1461*3662A>G chrX 152810825 152810826 RettBASE_c.1461*5839C>T - AJ132917.1:c.1461*5839C>T chrX 152816566 152816567 RettBASE_c.1461+98dupA - AJ132917.1:c.1461+98dupA chrX 18387240 18387241 RettBASE_CDKL5:c.2047-1G>A + NM_003159:c.2047-1G>A chrX 18391099 18391100 RettBASE_CDKL5:c.2276+48C>T + NM_003159:c.2276+48C>T chrX 18397709 18397710 RettBASE_CDKL5:c.2343delG + NM_003159:c.2343delG chrX 18397728 18397733 RettBASE_CDKL5:c.2362_2366delAAGAA + NM_003159:c.2362_2366delAAGAA chrX 18397738 18397739 RettBASE_CDKL5:c.2372A>C + NM_003159:c.2372A>C chrX 18402905 18402906 RettBASE_CDKL5:c.2378T>C + NM_003159:c.2378T>C chrX 18403024 18403025 RettBASE_CDKL5:c.2496+1G>C + NM_003159:c.2496+1G>C chrX 18403141 18403142 RettBASE_CDKL5:c.2496+118T>A + NM_003159:c.2496+118T>A chrX 18403024 18403025 RettBASE_CDKL5:c.2496+1G>A + NM_003159:c.2496+1G>A chrX 152804788 152804789 RettBASE_g.9963A>G + AF030876.2:g.9963A>G chrX 152817764 152817765 RettBASE_g.22939delA + AF030876.2:g.22939delA chr17 7519143 7519144 TP53_g.13190G>T - X54156.1(TP53):g.13190G>T chr17 36996243 36996244 HIFD_KRT14:c.369T>C - NM_000526(KRT14):c.369T>C chr17 36993049 36993050 HIFD_KRT14:c.1237G>A - NM_000526(KRT14):c.1237G>A chr17 36994804 36994805 HIFD_KRT14:c.[556G>A]+[1237G>A] - NM_000526(KRT14):c.[..556G>A..] chr17 36993049 36993050 HIFD_KRT14:c.[556G>A]+[1237G>A] - NM_000526(KRT14):c.[..1237G>A..] chr17 37033978 37033979 HIFD_KRT17:c.309T>C - NM_000422(KRT17):c.309T>C chr12 51630374 51630375 HIFD_KRT18:c.418-4C>G + NM_000224(KRT18):c.418-4C>G chr12 51631562 51631563 HIFD_KRT18:c.689G>C + NM_000224(KRT18):c.689G>C chr12 51632213 51632214 HIFD_KRT18:c.993C>T + NM_000224(KRT18):c.993C>T chr17 36804624 36804625 HIFD_KRT31:c.1097+1G>A - NM_002277(KRT31):c.1097+1G>A chr17 36981344 36981345 HIFD_KRT9:c.426A>C - NM_000226(KRT9):c.426A>C chr17 36981554 36981555 HIFD_KRT9:c.216C>T - NM_000226(KRT9):c.216C>T chr17 36981341 36981342 HIFD_KRT9:c.429A>C - NM_000226(KRT9):c.429A>C chr12 51358678 51358679 HIFD_KRT1:c.720G>A - NM_006121(KRT1):c.720G>A chr12 51356411 51356412 HIFD_KRT1:c.1389C>T - NM_006121(KRT1):c.1389C>T chr12 51356387 51356388 HIFD_KRT1:c.1413C>A - NM_006121(KRT1):c.1413C>A chr12 51355501 51355522 HIFD_KRT1:c.1657_1677del21 - NM_006121(KRT1):c.1657_1677del21 chr12 51355582 51355609 HIFD_KRT1:c.1570_1596del27 - NM_006121(KRT1):c.1570_1596del27 chr12 51358598 51358599 HIFD_KRT1:c.800G>A - NM_006121(KRT1):c.800G>A chr12 51355416 51355417 HIFD_KRT1:c.1762G>A - NM_006121(KRT1):c.1762A>G chr12 51200110 51200111 HIFD_KRT5:c.237A>T - NM_000424(KRT5):c.237T>A chr12 51199175 51199176 HIFD_KRT5:c.591C>A - NM_000424(KRT5):c.591C>A chr12 51197216 51197217 HIFD_KRT5:c.1159A>T - NM_000424(KRT5):c.1159T>A chr12 51200107 51200108 HIFD_KRT5:c.240A>T - NM_000424(KRT5):c.240T>A chr12 51199172 51199173 HIFD_KRT5:c.594C>T - NM_000424(KRT5):c.594C>T chr12 51113874 51113875 HIFD_KRT75:c.481G>A - NM_004693(KRT75):c.481G>A chr12 51580647 51580648 HIFD_KRT8:c.681A>G - NM_002273(KRT8):c.681A>G chr12 51584845 51584846 HIFD_KRT8:c.187A>G - NM_002273(KRT8):c.187A>G chr12 51584816 51584817 HIFD_KRT8:c.216G>A - NM_002273(KRT8):c.216G>A chr12 51578803 51578804 HIFD_KRT8:c.1128G>A - NM_002273(KRT8):c.1128G>A chr12 51584848 51584849 HIFD_KRT8:c.184G>T - NM_002273(KRT8):c.184G>T chr12 51584872 51584873 HIFD_KRT8:c.160T>C - NM_002273(KRT8):c.160T>C chr12 51578909 51578910 HIFD_KRT8:c.1022G>A - NM_002273(KRT8):c.1022G>A chr12 51579851 51579852 HIFD_KRT8:c.955G>T - NM_002273(KRT8):c.955G>T chr12 50967346 50967347 HIFD_KRT81:c.1053T>C - NM_002281(KRT81):c.1053T>C chr12 50967322 50967323 HIFD_KRT81:c.1077A>G - NM_002281(KRT81):c.1077A>G chr12 50967385 50967387 HIFD_KRT81:c.1027-13_1027-14insT - NM_002281(KRT81):c.1027-13_1027-14insT chr12 50968407 50968408 HIFD_KRT81:c.735+4C>T - NM_002281(KRT81):c.735+4C>T chr12 50999354 50999355 HIFD_KRT83:c.445T>C - NM_002282(KRT83):c.445T>C chr12 50999241 50999242 HIFD_KRT83:c.558C>T - NM_002282(KRT83):c.558C>T chr12 50982163 50982164 HIFD_KRT86:c.197G>A + NM_002284(KRT86):c.197G>A chr12 50982314 50982315 HIFD_KRT86:c.348G>A + NM_002284(KRT86):c.348G>A chr12 50983196 50983197 HIFD_KRT86:c.416A>C + NM_002284(KRT86):c.416A>C chr2 220110380 220110381 HIFD_DES:c.638C>T + NM_001927(DES):c.638C>T chr17 40348897 40348898 HIFD_GFAP:c.-518T>A - NM_002055(GFAP):c.-518T>A chr17 40348643 40348644 HIFD_GFAP:c.-264C>A - NM_002055(GFAP):c.-264C>A chr17 40344613 40344614 HIFD_GFAP:c.858G>A - NM_002055(GFAP):c.858G>A chr17 40344588 40344589 HIFD_GFAP:c.883G>A - NM_002055(GFAP):c.883G>A chr17 40348240 40348241 HIFD_GFAP:c.140C>T - NM_002055(GFAP):c.140C>T chr17 40348239 40348240 HIFD_GFAP:c.141G>A - NM_002055(GFAP):c.141G>A chr17 40346335 40346336 HIFD_GFAP:c.619-12C>T - NM_002055(GFAP):c.619-12C>T chr17 40346725 40346726 HIFD_GFAP:c.523-9C>G - NM_002055(GFAP):c.523-9C>G chr17 40343617 40343618 HIFD_GFAP:c.1128-66C>G - NM_002055(GFAP):c.1128-66C>G chr17 40348284 40348285 HIFD_GFAP:c.96T>C - NM_002055(GFAP):c.96T>C chr17 40344449 40344450 HIFD_GFAP:c.907-100A>C - NM_002055(GFAP):c.907-100A>C chr17 40340367 40340368 HIFD_GFAP:c.1258-86C>T - NM_002055(GFAP):c.1258-86C>T chr17 40348037 40348038 HIFD_GFAP:c.343G>A - NM_002055(GFAP):c.343G>A chr17 40346974 40346975 HIFD_GFAP:c.469G>A - NM_002055(GFAP):c.469G>A chr17 40346275 40346276 HIFD_GFAP:c.667G>C - NM_002055(GFAP):c.667G>C chr17 40340212 40340213 HIFD_GFAP:c.*28C>G - NM_002055(GFAP):c.*28C>G chr17 40340207 40340208 HIFD_GFAP:c.*33C>G - NM_002055(GFAP):c.*33C>G chr17 40346419 40346420 HIFD_GFAP:c.619-96G>T - NM_002055(GFAP):c.619-96G>T chr17 40345516 40345517 HIFD_GFAP:c.781-826G>A - NM_002055(GFAP):c.781-826G>A chr17 40343702 40343703 HIFD_GFAP:c.1128-151C>T - NM_002055(GFAP):c.1128-151C>T chr17 40343037 40343038 HIFD_GFAP:c.1171+471C>T - NM_002055(GFAP):c.1171+471C>T chr17 40343007 40343008 HIFD_GFAP:c.1171+501C>A - NM_002055(GFAP):c.1171+501C>A chr17 40341348 40341349 HIFD_GFAP:c.1172-306A>G - NM_002055(GFAP):c.1172-306A>G chr12 47975275 47975276 HIFD_PRPH:c.26G>A + NM_006262(PRPH):c.26G>A chr12 47975312 47975313 HIFD_PRPH:c.63C>T + NM_006262(PRPH):c.63C>T chr12 47975670 47975671 HIFD_PRPH:c.421G>T + NM_006262(PRPH):c.421G>T chr12 47977064 47977065 HIFD_PRPH:c.829G>A + NM_006262(PRPH):c.829G>A chr12 47977492 47977493 HIFD_PRPH:c.1083C>G + NM_006262(PRPH):c.1083C>G chr12 47977517 47977518 HIFD_PRPH:c.1108A>G + NM_006262(PRPH):c.1108G>A chr12 47975227 47975228 HIFD_PRPH:c.-23G>C + NM_006262(PRPH):c.-23G>C chr12 47975863 47975864 HIFD_PRPH:c.545+69G>C + NM_006262(PRPH):c.545+69G>C chr12 47976404 47976405 HIFD_PRPH:c.607-77A>C + NM_006262(PRPH):c.607-77A>C chr12 47977653 47977654 HIFD_PRPH:c.1217+27C>A + NM_006262(PRPH):c.1217+27C>A chr12 47977669 47977670 HIFD_PRPH:c.1217+43C>A + NM_006262(PRPH):c.1217+43C>A chr12 47977833 47977834 HIFD_PRPH:c.1267+58T>C + NM_006262(PRPH):c.1267+58T>C chr12 47978301 47978303 HIFD_PRPH:c.1348-36_1348-35insA + NM_006262(PRPH):c.1348-36_1348-35insA chr8 24827597 24827598 HIFD_NEF3:c.387T>G + NM_005382(NEF3):c.387T>G chr8 24829045 24829046 HIFD_NEF3:c.1104T>C + NM_005382(NEF3):c.1104T>C chr8 24830692 24830693 HIFD_NEF3:c.1420A>G + NM_005382(NEF3):c.1420A>G chr8 24827657 24827658 HIFD_NEF3:c.447G>C + NM_005382(NEF3):c.447G>C chr8 24830695 24830696 HIFD_NEF3:c.1423G>A + NM_005382(NEF3):c.1423G>A chr8 24831361 24831362 HIFD_NEF3:c.2089G>C + NM_005382(NEF3):c.2089G>C chr8 24831446 24831447 HIFD_NEF3:c.2174C>A + NM_005382(NEF3):c.2174C>A chr8 24831757 24831760 HIFD_NEF3:c.2485_2487delGTT + NM_005382(NEF3):c.2485_2487delGTT chr22 28210026 28210027 HIFD_NEFH:c.1844C>T + NM_021076(NEFH):c.1844C>T chr22 28201276 28201277 HIFD_NEFH:c.472C>T + NM_021076(NEFH):c.472C>T chr22 28206384 28206385 HIFD_NEFH:c.1203T>C + NM_021076(NEFH):c.1203T>C chr22 28210596 28210597 HIFD_NEFH:c.2414C>A + NM_021076(NEFH):c.2414A>C chr22 28209557 28209558 HIFD_NEFH:c.1375G>A + NM_021076(NEFH):c.1375G>A chr22 28209569 28209570 HIFD_NEFH:c.1387G>A + NM_021076(NEFH):c.1387G>A chr22 28210414 28210415 HIFD_NEFH:c.2232C>T + NM_021076(NEFH):c.2232C>T chr22 28210416 28210417 HIFD_NEFH:c.2234A>T + NM_021076(NEFH):c.2234A>T chr22 28210596 28210597 HIFD_NEFH:c.2414A>C + NM_021076(NEFH):c.2414A>C chr22 28210966 28210967 HIFD_NEFH:c.2784A>G + NM_021076(NEFH):c.2784A>G chr8 24866993 24866994 HIFD_NEFL:c.1402G>A - NM_006158(NEFL):c.1402G>A chr8 24869279 24869280 HIFD_NEFL:c.667C>T - NM_006158(NEFL):c.667C>T chr8 24866290 24866293 HIFD_NEFL:c.1579_1581delGAG - NM_006158(NEFL):c.1579_1581delGAG chr8 24866379 24866380 HIFD_NEFL:c.1492G>A - NM_006158(NEFL):c.1492G>A chr8 24869719 24869720 HIFD_NEFL:c.227T>C - NM_006158(NEFL):c.227T>C chr8 24869667 24869668 HIFD_NEFL:c.279G>A - NM_006158(NEFL):c.279G>A chr8 24869987 24869990 HIFD_NEFL:c.-44_-42delGGCinsATG - NM_006158(NEFL):c.-44_-42delGGCinsATG chr8 24869757 24869758 HIFD_NEFL:c.189G>A - NM_006158(NEFL):c.189G>A chr8 24869823 24869824 HIFD_NEFL:c.123C>T - NM_006158(NEFL):c.123C>T chr8 24867183 24867184 HIFD_NEFL:c.1212C>T - NM_006158(NEFL):c.1212C>T chr8 24866936 24866937 HIFD_NEFL:c.1458C>T - NM_006158(NEFL):c.1458C>T chr8 24869226 24869227 HIFD_NEFL:c.720C>T - NM_006158(NEFL):c.720C>T chr8 24869523 24869524 HIFD_NEFL:c.423G>A - NM_006158(NEFL):c.423G>A chr8 24867757 24867759 HIFD_NEFL:c.1045-23_1045-22insT - NM_006158(NEFL):c.1045-23_1045-22insT chr8 24869901 24869902 HIFD_NEFL:c.45G>A - NM_006158(NEFL):c.45G>A chr8 24869307 24869308 HIFD_NEFL:c.639C>G - NM_006158(NEFL):c.639C>G chr8 24868977 24868978 HIFD_NEFL:c.969G>T - NM_006158(NEFL):c.969G>T chr1 152897832 152897833 HIFD_LMNA:c.51C>T + NM_170707(LMNA):c.51C>T chr1 152918100 152918101 HIFD_LMNA:c.861T>C + NM_170707(LMNA):c.861T>C chr1 152919257 152919258 HIFD_LMNA:c.1338T>C + NM_170707(LMNA):c.1338T>C chr1 152920606 152920607 HIFD_LMNA:c.1698C>T + NM_170707(LMNA):c.1698C>T chr1 152917851 152917852 HIFD_LMNA:c.810+13G>T + NM_170707(LMNA):c.810+13G>T chr1 152919935 152919936 HIFD_LMNA:c.1489-41C>T + NM_170707(LMNA):c.1489-41C>T chr1 152920512 152920513 HIFD_LMNA:c.1609-5A>G + NM_170707(LMNA):c.1609-5A>G chr1 152921560 152921561 HIFD_LMNA:c.1908C>T + NM_170707(LMNA):c.1908C>T chr1 152919000 152919001 HIFD_LMNA:c.1157+16G>A + NM_170707(LMNA):c.1157+16G>A chr1 152918855 152918856 HIFD_LMNA:c.1028G>A + NM_170707(LMNA):c.1028G>A chr1 152917751 152917752 HIFD_LMNA:c.723G>A + NM_170707(LMNA):c.723G>A chr1 152917899 152917900 HIFD_LMNA:c.810+61C>T + NM_170707(LMNA):c.810+61C>T chr1 152913480 152913481 HIFD_LMNA:c.357C>T + NM_170707(LMNA):c.357C>T chr1 152918925 152918926 HIFD_LMNA:c.1098G>A + NM_170707(LMNA):c.1098G>A chr1 152919218 152919219 HIFD_LMNA:c.1299C>T + NM_170707(LMNA):c.1299C>T chr1 152917364 152917365 HIFD_LMNA:c.612G>A + NM_170707(LMNA):c.612G>A chr5 126168420 126168421 HIFD_LMNB1:c.414T>C + NM_005573(LMNB1):c.414T>C chr5 126175401 126175402 HIFD_LMNB1:c.852T>C + NM_005573(LMNB1):c.852T>C chr5 126189588 126189589 HIFD_LMNB1:c.1502C>T + NM_005573(LMNB1):c.1502C>T chr5 126199872 126199873 HIFD_LMNB1:c.*18C>T + NM_005573(LMNB1):c.*18C>T chr5 126199897 126199898 HIFD_LMNB1:c.*43C>T + NM_005573(LMNB1):c.*43C>T chr19 2407789 2407790 HIFD_LMNB2:c.82G>A - NM_032737(LMNB2):c.82G>A chr17 36231896 36231897 HIFD_KRT10:c.467G>A - NM_000421(KRT10):c.467G>A chr17 36231881 36231882 HIFD_KRT10:c.482T>C - NM_000421(KRT10):c.482T>C chr17 36231896 36231897 HIFD_KRT10:c.467G>C - NM_000421(KRT10):c.467G>C chr17 36231897 36231898 HIFD_KRT10:c.466C>A - NM_000421(KRT10):c.466C>A chr17 36231897 36231898 HIFD_KRT10:c.466C>T - NM_000421(KRT10):c.466C>T chr17 36231903 36231904 HIFD_KRT10:c.460A>C - NM_000421(KRT10):c.460A>C chr17 36231885 36231886 HIFD_KRT10:c.478T>G - NM_000421(KRT10):c.478T>G chr17 36229342 36229343 HIFD_KRT10:c.1325T>A - NM_000421(KRT10):c.1325T>A chr17 36231896 36231897 HIFD_KRT10:c.467G>T - NM_000421(KRT10):c.467G>T chr17 36231914 36231915 HIFD_KRT10:c.449T>G - NM_000421(KRT10):c.449T>G chr17 36229352 36229353 HIFD_KRT10:c.1315A>G - NM_000421(KRT10):c.1315A>G chr17 36231914 36231915 HIFD_KRT10:c.449T>C - NM_000421(KRT10):c.449T>C chr17 36229402 36229404 HIFD_KRT10:c.1264_1265delCGinsGA - NM_000421(KRT10):c.1264_1265delCGinsGA chr17 36231891 36231892 HIFD_KRT10:c.472G>C - NM_000421(KRT10):c.472G>C chr17 36229330 36229331 HIFD_KRT10:c.1337T>C - NM_000421(KRT10):c.1337T>C chr17 36231884 36231885 HIFD_KRT10:c.479A>C - NM_000421(KRT10):c.479A>C chr17 36229312 36229313 HIFD_KRT10:c.1355T>C - NM_000421(KRT10):c.1355T>C chr17 36231897 36231899 HIFD_KRT10:c.465_466delCCinsAA - NM_000421(KRT10):c.465_466delCCinsAA chr17 36231906 36231907 HIFD_KRT10:c.457C>G - NM_000421(KRT10):c.457C>G chr17 36231897 36231898 HIFD_KRT10:c.466C>G - NM_000421(KRT10):c.466C>G chr17 36229309 36229310 HIFD_KRT10:c.1358T>C - NM_000421(KRT10):c.1358T>C chr17 36231877 36231883 HIFD_KRT10:c.481_486delTTGGAC - NM_000421(KRT10):c.481_486delTTGGAC chr17 36229367 36229368 HIFD_KRT10:c.1300C>T - NM_000421(KRT10):c.1300C>T chr17 36229385 36229387 HIFD_KRT10:c.1281_1282delCCinsAA - NM_000421(KRT10):c.1281_1282delCCinsAA chr17 36229327 36229328 HIFD_KRT10:c.1340A>C - NM_000421(KRT10):c.1340A>C chr17 36276537 36276538 HIFD_KRT12:c.427G>C - NM_000223(KRT12):c.427G>C chr17 36276560 36276561 HIFD_KRT12:c.404G>C - NM_000223(KRT12):c.404G>C chr17 36276561 36276562 HIFD_KRT12:c.403A>G - NM_000223(KRT12):c.403A>G chr17 36276560 36276561 HIFD_KRT12:c.404G>T - NM_000223(KRT12):c.404G>T chr17 36276545 36276546 HIFD_KRT12:c.419T>G - NM_000223(KRT12):c.419T>G chr17 36272931 36272932 HIFD_KRT12:c.1285T>G - NM_000223(KRT12):c.1285T>G chr17 36272940 36272941 HIFD_KRT12:c.1276A>G - NM_000223(KRT12):c.1276A>G chr17 36276578 36276579 HIFD_KRT12:c.386T>C - NM_000223(KRT12):c.386T>C chr17 36276575 36276576 HIFD_KRT12:c.389A>C - NM_000223(KRT12):c.389A>C chr17 36276565 36276566 HIFD_KRT12:c.399T>G - NM_000223(KRT12):c.399T>G chr17 36276555 36276556 HIFD_KRT12:c.409G>C - NM_000223(KRT12):c.409G>C chr17 36276559 36276560 HIFD_KRT12:c.405A>C - NM_000223(KRT12):c.405A>C chr17 36273018 36273020 HIFD_KRT12:c.1197_1198ins27 - NM_000223(KRT12):c.1197_1198ins27 chr17 36272930 36272931 HIFD_KRT12:c.1286A>G - NM_000223(KRT12):c.1286A>G chr17 36272939 36272940 HIFD_KRT12:c.1277T>G - NM_000223(KRT12):c.1277T>G chr17 36272927 36272928 HIFD_KRT12:c.1289G>C - NM_000223(KRT12):c.1289G>C chr17 36276537 36276538 HIFD_KRT12:c.427G>T - NM_000223(KRT12):c.427G>T chr17 36914972 36914973 HIFD_KRT13:c.356T>C - NM_153490(KRT13):c.356T>C chr17 36914984 36914985 HIFD_KRT13:c.344T>C - NM_153490(KRT13):c.344T>C chr17 36915005 36915006 HIFD_KRT13:c.323T>C - NM_153490(KRT13):c.323T>C chr17 36914993 36914994 HIFD_KRT13:c.335A>G - NM_153490(KRT13):c.335A>G chr17 36914996 36914997 HIFD_KRT13:c.332T>C - NM_153490(KRT13):c.332T>C chr17 36993135 36993136 HIFD_KRT14:c.1151T>C - NM_000526(KRT14):c.1151T>C chr17 36996239 36996240 HIFD_KRT14:c.373C>T - NM_000526(KRT14):c.373C>T chr17 36996238 36996239 HIFD_KRT14:c.374G>A - NM_000526(KRT14):c.374G>A chr17 36993656 36993657 HIFD_KRT14:c.808G>A - NM_000526(KRT14):c.808G>A chr17 36993161 36993164 HIFD_KRT14:c.1123_1125delGAG - NM_000526(KRT14):c.1123_1125delGAG chr17 36996298 36996300 HIFD_KRT14:c.313_314delGC - NM_000526(KRT14):c.313_314delGC chr17 36994187 36994188 HIFD_KRT14:c.612T>A - NM_000526(KRT14):c.612T>A chr17 36996248 36996249 HIFD_KRT14:c.364C>T - NM_000526(KRT14):c.364C>T chr17 36996181 36996182 HIFD_KRT14:c.431A>C - NM_000526(KRT14):c.431A>C chr17 36996253 36996254 HIFD_KRT14:c.359A>G - NM_000526(KRT14):c.359A>G chr17 36993643 36993644 HIFD_KRT14:c.821C>A - NM_000526(KRT14):c.821C>A chr17 36993156 36993157 HIFD_KRT14:c.1130T>A - NM_000526(KRT14):c.1130T>A chr17 36993124 36993125 HIFD_KRT14:c.1162C>T - NM_000526(KRT14):c.1162C>T chr17 36996256 36996257 HIFD_KRT14:c.356T>C - NM_000526(KRT14):c.356T>C chr17 36993649 36993650 HIFD_KRT14:c.815T>G - NM_000526(KRT14):c.815T>G chr17 36996227 36996228 HIFD_KRT14:c.385T>G - NM_000526(KRT14):c.385T>G chr17 36994836 36994837 HIFD_KRT14:c.526-2A>C - NM_000526(KRT14):c.526-2A>C chr17 36996255 36996256 HIFD_KRT14:c.357G>A - NM_000526(KRT14):c.357G>A chr17 36993549 36993550 HIFD_KRT14:c.915G>A - NM_000526(KRT14):c.915G>A chr17 36993646 36993647 HIFD_KRT14:c.818A>G - NM_000526(KRT14):c.818A>G chr17 36996244 36996245 HIFD_KRT14:c.368A>G - NM_000526(KRT14):c.368A>G chr17 36996264 36996265 HIFD_KRT14:c.348G>C - NM_000526(KRT14):c.348G>C chr17 36996184 36996185 HIFD_KRT14:c.428T>C - NM_000526(KRT14):c.428T>C chr17 36993043 36993044 HIFD_KRT14:c.1243T>C - NM_000526(KRT14):c.1243T>C chr17 36993030 36993031 HIFD_KRT14:c.1256T>A - NM_000526(KRT14):c.1256T>A chr17 36993022 36993023 HIFD_KRT14:c.1264G>A - NM_000526(KRT14):c.1264G>A chr17 36996211 36996212 HIFD_KRT14:c.401G>C - NM_000526(KRT14):c.401G>C chr17 36996520 36996521 HIFD_KRT14:c.92delT - NM_000526(KRT14):c.92delT chr17 36996257 36996258 HIFD_KRT14:c.355A>G - NM_000526(KRT14):c.355A>G chr17 36994826 36994832 HIFD_KRT14:c.529_534delCTCACA - NM_000526(KRT14):c.529_534delCTCACA chr17 36994832 36994833 HIFD_KRT14:c.528T>G - NM_000526(KRT14):c.528T>G chr17 36993055 36993056 HIFD_KRT14:c.1231G>T - NM_000526(KRT14):c.1231G>T chr17 36994055 36994056 HIFD_KRT14:c.744delCinsAG - NM_000526(KRT14):c.744delCinsAG chr17 36996170 36996171 HIFD_KRT14:c.442C>T - NM_000526(KRT14):c.442C>T chr17 36993039 36993040 HIFD_KRT14:c.1247G>C - NM_000526(KRT14):c.1247G>C chr17 36996227 36996230 HIFD_KRT14:c.383_385delCCT - NM_000526(KRT14):c.383_385delCCT chr17 36993064 36993065 HIFD_KRT14:c.1222C>A - NM_000526(KRT14):c.1222C>A chr17 36996223 36996224 HIFD_KRT14:c.389T>C - NM_000526(KRT14):c.389T>C chr17 36993536 36993537 HIFD_KRT14:c.927+1G>A - NM_000526(KRT14):c.927+1G>A chr17 36993042 36993043 HIFD_KRT14:c.1244A>G - NM_000526(KRT14):c.1244A>G chr17 36993123 36993124 HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] - NM_000526(KRT14):c.[..1163G>A..] chr17 36993100 36993101 HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] - NM_000526(KRT14):c.[..1186C>T..] chr17 36993100 36993101 HIFD_KRT14:c.1186C>T - NM_000526(KRT14):c.1186C>T chr17 36996369 36996371 HIFD_KRT14:c.242_243insG - NM_000526(KRT14):c.242_243insG chr17 36996243 36996244 HIFD_KRT14:c.369T>A - NM_000526(KRT14):c.369T>A chr17 36996239 36996240 HIFD_KRT14:c.373C>G - NM_000526(KRT14):c.373C>G chr17 36996215 36996216 HIFD_KRT14:c.397G>T - NM_000526(KRT14):c.397G>T chr17 36996212 36996213 HIFD_KRT14:c.400C>T - NM_000526(KRT14):c.400C>T chr17 36996215 36996216 HIFD_KRT14:c.397G>A - NM_000526(KRT14):c.397G>A chr17 36996253 36996254 HIFD_KRT14:c.359A>C - NM_000526(KRT14):c.359A>C chr17 36993040 36993041 HIFD_KRT14:c.1246_1246delC - NM_000526(KRT14):c.1246_1246delC chr17 36993123 36993124 HIFD_KRT14:c.1163G>A - NM_000526(KRT14):c.1163G>A chr17 36993123 36993124 HIFD_KRT14:c.1163G>C - NM_000526(KRT14):c.1163G>C chr17 36996213 36996214 HIFD_KRT14:c.399G>T - NM_000526(KRT14):c.399G>T chr17 36994167 36994168 HIFD_KRT14:c.632G>C - NM_000526(KRT14):c.632G>C chr17 36993649 36993650 HIFD_KRT14:c.815T>C - NM_000526(KRT14):c.815T>C chr17 36993053 36993056 HIFD_KRT14:c.1231_1233delGAG - NM_000526(KRT14):c.1231_1233delGAG chr17 36993036 36993037 HIFD_KRT14:c.1250G>C - NM_000526(KRT14):c.1250G>C chr17 36993068 36993069 HIFD_KRT14:c.1218_1218delG - NM_000526(KRT14):c.1218_1218delG chr17 36996185 36996186 HIFD_KRT14:c.427delC - NM_000526(KRT14):c.427delC chr17 36996483 36996484 HIFD_KRT14:c.129dupC - NM_000526(KRT14):c.129dupC chr17 36996595 36996596 HIFD_KRT14:c.17delG - NM_000526(KRT14):c.17delG chr17 36996558 36996559 HIFD_KRT14:c.54C>A - NM_000526(KRT14):c.54C>A chr17 36996593 36996594 HIFD_KRT14:c.19C>T - NM_000526(KRT14):c.19C>T chr17 36996238 36996239 HIFD_KRT14:c.374G>C - NM_000526(KRT14):c.374G>C chr17 36996215 36996216 HIFD_KRT14:c.397G>C - NM_000526(KRT14):c.397G>C chr17 36996266 36996267 HIFD_KRT14:c.346A>G - NM_000526(KRT14):c.346A>G chr17 36996226 36996227 HIFD_KRT14:c.386A>G - NM_000526(KRT14):c.386A>G chr17 36996214 36996215 HIFD_KRT14:c.398T>C - NM_000526(KRT14):c.398T>C chr17 36993156 36993157 HIFD_KRT14:c.1130T>C - NM_000526(KRT14):c.1130T>C chr17 36993034 36993035 HIFD_KRT14:c.1252C>G - NM_000526(KRT14):c.1252C>G chr17 37022071 37022072 HIFD_KRT16:c.395T>C - NM_005557(KRT16):c.395T>C chr17 37022087 37022088 HIFD_KRT16:c.379C>T - NM_005557(KRT16):c.379C>T chr17 37022092 37022093 HIFD_KRT16:c.374A>G - NM_005557(KRT16):c.374A>G chr17 37022075 37022078 HIFD_KRT16:c.389_391delCCT - NM_005557(KRT16):c.389_391delCCT chr17 37022086 37022087 HIFD_KRT16:c.380G>C - NM_005557(KRT16):c.380G>C chr17 37022101 37022102 HIFD_KRT16:c.365A>C - NM_005557(KRT16):c.365A>C chr17 37020122 37020145 HIFD_KRT16:c.[1244_1266del23]+[1270delG] - NM_005557(KRT16):c.[..1244_1266del23..] chr17 37020118 37020119 HIFD_KRT16:c.[1244_1266del23]+[1270delG] - NM_005557(KRT16):c.[..1270delG..] chr17 37022095 37022096 HIFD_KRT16:c.371T>G - NM_005557(KRT16):c.371T>G chr17 37022146 37022158 HIFD_KRT16:c.309_320del12 - NM_005557(KRT16):c.309_320del12 chr17 37020326 37020327 HIFD_KRT16:c.1062A>T - NM_005557(KRT16):c.1062A>T chr17 37022104 37022105 HIFD_KRT16:c.362T>C - NM_005557(KRT16):c.362T>C chr17 37022083 37022084 HIFD_KRT16:c.383T>A - NM_005557(KRT16):c.383T>A chr17 37022095 37022096 HIFD_KRT16:c.371T>C - NM_005557(KRT16):c.371T>C chr17 37022095 37022096 HIFD_KRT16:c.371T>A - NM_005557(KRT16):c.371T>A chr17 37022093 37022094 HIFD_KRT16:c.373A>G - NM_005557(KRT16):c.373A>G chr17 37020615 37020639 HIFD_KRT16:c.1052_1059+16del24 - NM_005557(KRT16):c.1052_1059+16del24 chr17 37034013 37034014 HIFD_KRT17:c.274A>G - NM_000422(KRT17):c.274A>G chr17 37034012 37034013 HIFD_KRT17:c.275A>G - NM_000422(KRT17):c.275A>G chr17 37033995 37033996 HIFD_KRT17:c.292T>G - NM_000422(KRT17):c.292T>G chr17 37034013 37034014 HIFD_KRT17:c.274A>C - NM_000422(KRT17):c.274A>C chr17 37034006 37034007 HIFD_KRT17:c.281G>A - NM_000422(KRT17):c.281G>A chr17 37034007 37034008 HIFD_KRT17:c.280C>T - NM_000422(KRT17):c.280C>T chr17 37034024 37034025 HIFD_KRT17:c.263T>C - NM_000422(KRT17):c.263T>C chr17 37033993 37034008 HIFD_KRT17:c.280_294del15 - NM_000422(KRT17):c.280_294del15 chr17 37034006 37034007 HIFD_KRT17:c.281G>C - NM_000422(KRT17):c.281G>C chr17 37034003 37034004 HIFD_KRT17:c.284T>A - NM_000422(KRT17):c.284T>A chr17 37033983 37033984 HIFD_KRT17:c.304G>A - NM_000422(KRT17):c.304G>A chr17 37033996 37033999 HIFD_KRT17:c.289_291delTCC - NM_000422(KRT17):c.289_291delTCC chr17 37034003 37034004 HIFD_KRT17:c.284T>C - NM_000422(KRT17):c.284T>C chr17 37033991 37033992 HIFD_KRT17:c.296T>C - NM_000422(KRT17):c.296T>C chr17 37033962 37033963 HIFD_KRT17:c.325A>G - NM_000422(KRT17):c.325A>G chr17 37030454 37030455 HIFD_KRT17:c.1163T>C - NM_000422(KRT17):c.1163T>C chr12 51629606 51629607 HIFD_KRT18:c.383A>T + NM_000224(KRT18):c.383A>T chr12 51629530 51629531 HIFD_KRT18:c.307A>G + NM_000224(KRT18):c.307A>G chr12 51631655 51631656 HIFD_KRT18:c.782G>A + NM_000224(KRT18):c.782G>A chr12 51632238 51632239 HIFD_KRT18:c.1018G>A + NM_000224(KRT18):c.1018G>A chr12 51629416 51629440 HIFD_KRT18:c.193_216del24 + NM_000224(KRT18):c.193_216del24 chr12 51630408 51630409 HIFD_KRT18:c.448A>G + NM_000224(KRT18):c.448A>G chr12 51631785 51631786 HIFD_KRT18:c.827A>G + NM_000224(KRT18):c.827A>G chr12 51631812 51631813 HIFD_KRT18:c.854A>G + NM_000224(KRT18):c.854A>G chr12 51631842 51631843 HIFD_KRT18:c.884C>T + NM_000224(KRT18):c.884C>T chr12 51631848 51631849 HIFD_KRT18:c.890C>T + NM_000224(KRT18):c.890C>T chr12 51629209 51629210 HIFD_KRT18:c.-15C>T + NM_000224(KRT18):c.-15C>T chr12 51630498 51630499 HIFD_KRT18:c.500+38G>A + NM_000224(KRT18):c.500+38G>A chr17 36981289 36981290 HIFD_KRT9:c.481A>T - NM_000226(KRT9):c.481A>T chr17 36981287 36981288 HIFD_KRT9:c.483T>A - NM_000226(KRT9):c.483T>A chr17 36981283 36981284 HIFD_KRT9:c.487C>T - NM_000226(KRT9):c.487C>T chr17 36981282 36981283 HIFD_KRT9:c.488G>A - NM_000226(KRT9):c.488G>A chr17 36981301 36981302 HIFD_KRT9:c.469A>G - NM_000226(KRT9):c.469A>G chr17 36981255 36981256 HIFD_KRT9:c.515A>C - NM_000226(KRT9):c.515A>C chr17 36981288 36981289 HIFD_KRT9:c.482A>G - NM_000226(KRT9):c.482A>G chr17 36981267 36981268 HIFD_KRT9:c.503T>C - NM_000226(KRT9):c.503T>C chr17 36981292 36981293 HIFD_KRT9:c.478C>G - NM_000226(KRT9):c.478C>G chr17 36981300 36981301 HIFD_KRT9:c.470T>C - NM_000226(KRT9):c.470T>C chr17 36977970 36977972 HIFD_KRT9:c.1362_1363insCAC - NM_000226(KRT9):c.1362_1363insCAC chr17 36981262 36981263 HIFD_KRT9:c.508A>T - NM_000226(KRT9):c.508A>T chr17 36981259 36981260 HIFD_KRT9:c.511G>A - NM_000226(KRT9):c.511G>A chr17 36981288 36981289 HIFD_KRT9:c.482A>T - NM_000226(KRT9):c.482A>T chr17 36981292 36981293 HIFD_KRT9:c.478C>T - NM_000226(KRT9):c.478C>T chr17 36981289 36981290 HIFD_KRT9:c.481A>C - NM_000226(KRT9):c.481A>C chr17 36981270 36981271 HIFD_KRT9:c.500_500delAinsGGCT - NM_000226(KRT9):c.500_500delAinsGGCT chr17 36981282 36981283 HIFD_KRT9:c.488G>C - NM_000226(KRT9):c.488G>C chr17 36981270 36981271 HIFD_KRT9:c.500delAinsGGCT - NM_000226(KRT9):c.500delAinsGGCT chr17 36981300 36981301 HIFD_KRT9:c.470T>G - NM_000226(KRT9):c.470T>G chr17 36977961 36977962 HIFD_KRT9:c.1372C>T - NM_000226(KRT9):c.1372C>T chr12 51356332 51356333 HIFD_KRT1:c.1468G>C - NM_006121(KRT1):c.1468G>C chr12 51359917 51359918 HIFD_KRT1:c.482T>C - NM_006121(KRT1):c.482T>C chr12 51359836 51359837 HIFD_KRT1:c.563A>G - NM_006121(KRT1):c.563A>G chr12 51359822 51359823 HIFD_KRT1:c.577T>C - NM_006121(KRT1):c.577T>C chr12 51359935 51359936 HIFD_KRT1:c.464T>G - NM_006121(KRT1):c.464T>G chr12 51359843 51359844 HIFD_KRT1:c.556T>C - NM_006121(KRT1):c.556T>C chr12 51356355 51356356 HIFD_KRT1:c.1445A>G - NM_006121(KRT1):c.1445A>G chr12 51360178 51360179 HIFD_KRT1:c.221A>T - NM_006121(KRT1):c.221A>T chr12 51359863 51359864 HIFD_KRT1:c.536G>C - NM_006121(KRT1):c.536G>C chr12 51357475 51357476 HIFD_KRT1:c.1019A>T - NM_006121(KRT1):c.1019A>T chr12 51356364 51356365 HIFD_KRT1:c.1436T>C - NM_006121(KRT1):c.1436T>C chr12 51356365 51356366 HIFD_KRT1:c.1435A>T - NM_006121(KRT1):c.1435A>T chr12 51356366 51356367 HIFD_KRT1:c.1434G>T - NM_006121(KRT1):c.1434G>T chr12 51359836 51359837 HIFD_KRT1:c.563A>C - NM_006121(KRT1):c.563A>C chr12 51358757 51358758 HIFD_KRT1:c.641T>C - NM_006121(KRT1):c.641T>C chr12 51355568 51355570 HIFD_KRT1:c.1609_1610delGGinsA - NM_006121(KRT1):c.1609_1610delGGinsA chr12 51357108 51357109 HIFD_KRT1:c.1254+1G>A - NM_006121(KRT1):c.1254+1G>A chr12 51359935 51359936 HIFD_KRT1:c.464T>A - NM_006121(KRT1):c.464T>A chr12 51359868 51359869 HIFD_KRT1:c.531G>T - NM_006121(KRT1):c.531G>T chr12 51359826 51359827 HIFD_KRT1:c.573T>G - NM_006121(KRT1):c.573T>G chr12 51359807 51359808 HIFD_KRT1:c.591+1G>C - NM_006121(KRT1):c.591+1G>C chr12 51359807 51359808 HIFD_KRT1:c.591+1G>A - NM_006121(KRT1):c.591+1G>A chr12 51355550 51355551 HIFD_KRT1:c.1628delG - NM_006121(KRT1):c.1628delG chr12 51356368 51356369 HIFD_KRT1:c.1432G>A - NM_006121(KRT1):c.1432G>A chr12 51359806 51359807 HIFD_KRT1:c.591+2T>A - NM_006121(KRT1):c.591+2T>A chr12 51356401 51356425 HIFD_KRT1:c.1376_1399del24 - NM_006121(KRT1):c.1376_1399del24 chr12 51359835 51359836 HIFD_KRT1:c.564C>A - NM_006121(KRT1):c.564C>A chr12 51356343 51356344 HIFD_KRT1:c.1457T>C - NM_006121(KRT1):c.1457T>C chr12 51355426 51355428 HIFD_KRT1:c.1751_1752insG - NM_006121(KRT1):c.1751_1752insG chr12 51359827 51359828 HIFD_KRT1:c.572T>G - NM_006121(KRT1):c.572T>G chr12 51359880 51359892 HIFD_KRT1:c.508_519del12 - NM_006121(KRT1):c.508_519del12 chr12 51359802 51359806 HIFD_KRT1:c.591+3_591+6delGAGT - NM_006121(KRT1):c.591+3_591+6delGAGT chr12 51356359 51356360 HIFD_KRT1:c.1441A>C - NM_006121(KRT1):c.1441A>C chr12 51359840 51359841 HIFD_KRT1:c.559C>T - NM_006121(KRT1):c.559C>T chr12 51355622 51355623 HIFD_KRT1:c.1556_1556delG - NM_006121(KRT1):c.1556_1556delG chr12 51358700 51358701 HIFD_KRT1:c.698C>T - NM_006121(KRT1):c.698C>T chr12 51357422 51357423 HIFD_KRT1:c.1072A>T - NM_006121(KRT1):c.1072T>A chr12 51356331 51356332 HIFD_KRT1:c.1469A>G - NM_006121(KRT1):c.1469A>G chr12 51358775 51358776 HIFD_KRT1:c.623T>C - NM_006121(KRT1):c.623T>C chr12 51359828 51359829 HIFD_KRT1:c.571T>A - NM_006121(KRT1):c.571T>A chr12 51356335 51356336 HIFD_KRT1:c.1465G>A - NM_006121(KRT1):c.1465G>A chr12 51326800 51326801 HIFD_KRT2:c.1459G>A - NM_000423(KRT2):c.1459G>A chr12 51326798 51326799 HIFD_KRT2:c.1461G>T - NM_000423(KRT2):c.1461G>T chr12 51331651 51331652 HIFD_KRT2:c.542A>T - NM_000423(KRT2):c.542A>T chr12 51326808 51326809 HIFD_KRT2:c.1451T>C - NM_000423(KRT2):c.1451T>C chr12 51326797 51326798 HIFD_KRT2:c.1462G>A - NM_000423(KRT2):c.1462G>A chr12 51326824 51326825 HIFD_KRT2:c.1435A>C - NM_000423(KRT2):c.1435A>C chr12 51326833 51326834 HIFD_KRT2:c.1426G>A - NM_000423(KRT2):c.1426G>A chr12 51331637 51331638 HIFD_KRT2:c.556A>T - NM_000423(KRT2):c.556A>T chr12 51331648 51331649 HIFD_KRT2:c.545T>A - NM_000423(KRT2):c.545T>A chr12 51326832 51326833 HIFD_KRT2:c.1427A>T - NM_000423(KRT2):c.1427A>T chr12 51330582 51330583 HIFD_KRT2:c.607A>G - NM_000423(KRT2):c.607A>G chr12 51326811 51326812 HIFD_KRT2:c.1448T>A - NM_000423(KRT2):c.1448T>A chr12 51331635 51331636 HIFD_KRT2:c.558C>A - NM_000423(KRT2):c.558C>A chr12 51331661 51331662 HIFD_KRT2:c.532G>A - NM_000423(KRT2):c.532G>A chr12 51471266 51471267 HIFD_KRT3:c.1525G>A - NM_057088(KRT3):c.1525G>A chr12 51471283 51471284 HIFD_KRT3:c.1508G>C - NM_057088(KRT3):c.1508G>C chr12 51493672 51493675 HIFD_KRT4:c.657_659delCAA - NM_002272(KRT4):c.657_659delCAA chr12 51493692 51493694 HIFD_KRT4:c.638_639insACA - NM_002272(KRT4):c.638_639insACA chr12 51487737 51487738 HIFD_KRT4:c.1525G>A - NM_002272(KRT4):c.1525G>A chr12 51196702 51196703 HIFD_KRT5:c.1424A>G - NM_000424(KRT5):c.1424A>G chr12 51197741 51197742 HIFD_KRT5:c.991C>T - NM_000424(KRT5):c.991C>T chr12 51197752 51197753 HIFD_KRT5:c.980T>C - NM_000424(KRT5):c.980T>C chr12 51197745 51197746 HIFD_KRT5:c.987C>A - NM_000424(KRT5):c.987C>A chr12 51199828 51199829 HIFD_KRT5:c.519G>C - NM_000424(KRT5):c.519G>C chr12 51199865 51199866 HIFD_KRT5:c.482T>G - NM_000424(KRT5):c.482T>G chr12 51196738 51196739 HIFD_KRT5:c.1388T>C - NM_000424(KRT5):c.1388T>C chr12 51197749 51197750 HIFD_KRT5:c.983A>T - NM_000424(KRT5):c.983A>T chr12 51199824 51199825 HIFD_KRT5:c.523C>T - NM_000424(KRT5):c.523C>T chr12 51200273 51200274 HIFD_KRT5:c.74C>T - NM_000424(KRT5):c.74C>T chr12 51199187 51199188 HIFD_KRT5:c.579C>G - NM_000424(KRT5):c.579C>G chr12 51196697 51196698 HIFD_KRT5:c.1429G>A - NM_000424(KRT5):c.1429G>A chr12 51199811 51199812 HIFD_KRT5:c.536T>C - NM_000424(KRT5):c.536T>C chr12 51199820 51199821 HIFD_KRT5:c.527A>G - NM_000424(KRT5):c.527A>G chr12 51196726 51196727 HIFD_KRT5:c.1400T>C - NM_000424(KRT5):c.1400T>C chr12 51197764 51197765 HIFD_KRT5:c.968T>C - NM_000424(KRT5):c.968T>C chr12 51197752 51197753 HIFD_KRT5:c.980T>A - NM_000424(KRT5):c.980T>A chr12 51199892 51199893 HIFD_KRT5:c.455C>T - NM_000424(KRT5):c.455C>T chr12 51197750 51197751 HIFD_KRT5:c.982G>C - NM_000424(KRT5):c.982G>C chr12 51197758 51197759 HIFD_KRT5:c.974T>C - NM_000424(KRT5):c.974T>C chr12 51199792 51199858 HIFD_KRT5:c.490_555del66 - NM_000424(KRT5):c.490_555del66 chr12 51196697 51196698 HIFD_KRT5:c.1429G>T - NM_000424(KRT5):c.1429G>T chr12 51199806 51199807 HIFD_KRT5:c.541T>C - NM_000424(KRT5):c.541T>C chr12 51197748 51197749 HIFD_KRT5:c.984C>A - NM_000424(KRT5):c.984C>A chr12 51199210 51199211 HIFD_KRT5:c.556G>T - NM_000424(KRT5):c.556G>T chr12 51196712 51196713 HIFD_KRT5:c.1414A>T - NM_000424(KRT5):c.1414A>T chr12 51199839 51199840 HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] - NM_000424(KRT5):c.[..508G>C..] chr12 51196874 51196875 HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] - NM_000424(KRT5):c.[..1252G>A..] chr12 51195130 51195131 HIFD_KRT5:c.1635_1635delG - NM_000424(KRT5):c.1635_1635delG chr12 51197165 51197166 HIFD_KRT5:c.1210A>G - NM_000424(KRT5):c.1210A>G chr12 51196813 51196814 HIFD_KRT5:c.1313C>A - NM_000424(KRT5):c.1313C>A chr12 51196703 51196704 HIFD_KRT5:c.1423G>A - NM_000424(KRT5):c.1423G>A chr12 51199211 51199212 HIFD_KRT5:c.556-1G>C - NM_000424(KRT5):c.556-1G>C chr12 51197800 51197801 HIFD_KRT5:c.932T>G - NM_000424(KRT5):c.932T>G chr12 51199848 51199849 HIFD_KRT5:c.499G>A - NM_000424(KRT5):c.499G>A chr12 51197761 51197762 HIFD_KRT5:c.971T>A - NM_000424(KRT5):c.971T>A chr12 51199800 51199801 HIFD_KRT5:c.547A>T - NM_000424(KRT5):c.547A>T chr12 51195116 51195117 HIFD_KRT5:c.1649_1649delG - NM_000424(KRT5):c.1649_1649delG chr12 51199170 51199171 HIFD_KRT5:c.596A>C - NM_000424(KRT5):c.596A>C chr12 51199817 51199818 HIFD_KRT5:c.530A>G - NM_000424(KRT5):c.530A>G chr12 51197749 51197750 HIFD_KRT5:c.983A>G - NM_000424(KRT5):c.983A>G chr12 51199808 51199809 HIFD_KRT5:c.539C>A - NM_000424(KRT5):c.539C>A chr12 51196696 51196697 HIFD_KRT5:c.1430A>G - NM_000424(KRT5):c.1430A>G chr12 51196827 51196842 HIFD_KRT5:c.1285_1299del15 - NM_000424(KRT5):c.1285_1299del15 chr12 51195116 51195117 HIFD_KRT5:c.1649delG - NM_000424(KRT5):c.1649delG chr12 51199798 51199801 HIFD_KRT5:c.547_549delATC - NM_000424(KRT5):c.547_549delATC chr12 51196725 51196726 HIFD_KRT5:c.1401C>G - NM_000424(KRT5):c.1401C>G chr12 51200333 51200334 HIFD_KRT5:c.14C>A - NM_000424(KRT5):c.14C>A chr12 51199929 51199930 HIFD_KRT5:c.418dupA - NM_000424(KRT5):c.418dupA chr12 51196699 51196700 HIFD_KRT5:c.1427G>C - NM_000424(KRT5):c.1427G>C chr12 51199170 51199171 HIFD_KRT5:c.596A>G - NM_000424(KRT5):c.596A>G chr12 51199845 51199846 HIFD_KRT5:c.502G>A - NM_000424(KRT5):c.502G>A chr12 51199841 51199842 HIFD_KRT5:c.506G>C - NM_000424(KRT5):c.506G>C chr12 51199198 51199199 HIFD_KRT5:c.568G>A - NM_000424(KRT5):c.568G>A chr12 51197740 51197741 HIFD_KRT5:c.992G>A - NM_000424(KRT5):c.992G>A chr12 51196721 51196722 HIFD_KRT5:c.1405A>C - NM_000424(KRT5):c.1405A>C chr12 51199839 51199840 HIFD_KRT5:c.508G>A - NM_000424(KRT5):c.508G>A chr12 51199904 51199906 HIFD_KRT5:c.442_443delAG - NM_000424(KRT5):c.442_443delAG chr12 51199874 51199875 HIFD_KRT5:c.473A>T - NM_000424(KRT5):c.473A>T chr12 51199919 51199920 HIFD_KRT5:c.428T>A - NM_000424(KRT5):c.428T>A chr12 51199194 51199195 HIFD_KRT5:c.572A>C - NM_000424(KRT5):c.572A>C chr12 51199210 51199211 HIFD_KRT5:c.556G>A - NM_000424(KRT5):c.556G>A chr12 51195215 51195216 HIFD_KRT5:c.1550G>A - NM_000424(KRT5):c.1550G>A chr12 51197678 51197679 HIFD_KRT5:c.1054C>A - NM_000424(KRT5):c.1054C>A chr12 51199187 51199188 HIFD_KRT5:c.579C>T - NM_000424(KRT5):c.579C>T chr12 51199838 51199839 HIFD_KRT5:c.509A>G - NM_000424(KRT5):c.509A>G chr12 51197746 51197747 HIFD_KRT5:c.986A>G - NM_000424(KRT5):c.986A>G chr12 51196843 51196844 HIFD_KRT5:c.1283C>T - NM_000424(KRT5):c.1283C>T chr12 51196727 51196728 HIFD_KRT5:c.1399A>C - NM_000424(KRT5):c.1399A>C chr12 51199898 51199899 HIFD_KRT5:c.449T>C - NM_000424(KRT5):c.449T>C chr12 51196728 51196729 HIFD_KRT5:c.1398G>C - NM_000424(KRT5):c.1398G>C chr12 51199858 51199859 HIFD_KRT5:c.489G>T - NM_000424(KRT5):c.489G>T chr12 51172723 51172726 HIFD_KRT6A:c.514_516delAAC - NM_005554(KRT6A):c.514_516delAAC chr12 51172718 51172719 HIFD_KRT6A:c.521T>C - NM_005554(KRT6A):c.521T>C chr12 51172726 51172727 HIFD_KRT6A:c.513C>A - NM_005554(KRT6A):c.513C>A chr12 51172719 51172720 HIFD_KRT6A:c.520T>G - NM_005554(KRT6A):c.520T>G chr12 51168396 51168397 HIFD_KRT6A:c.1406T>G - NM_005554(KRT6A):c.1406T>G chr12 51168388 51168389 HIFD_KRT6A:c.1414G>A - NM_005554(KRT6A):c.1414G>A chr12 51168417 51168418 HIFD_KRT6A:c.1385T>G - NM_005554(KRT6A):c.1385T>G chr12 51168412 51168413 HIFD_KRT6A:c.1390A>C - NM_005554(KRT6A):c.1390A>C chr12 51172739 51172740 HIFD_KRT6A:c.500T>A - NM_005554(KRT6A):c.500T>A chr12 51172731 51172732 HIFD_KRT6A:c.508C>T - NM_005554(KRT6A):c.508C>T chr12 51172727 51172728 HIFD_KRT6A:c.512A>G - NM_005554(KRT6A):c.512A>G chr12 51172713 51172714 HIFD_KRT6A:c.526T>C - NM_005554(KRT6A):c.526T>C chr12 51168417 51168418 HIFD_KRT6A:c.1385T>A - NM_005554(KRT6A):c.1385T>A chr12 51168399 51168400 HIFD_KRT6A:c.1403T>C - NM_005554(KRT6A):c.1403T>C chr12 51168396 51168397 HIFD_KRT6A:c.1406T>C - NM_005554(KRT6A):c.1406T>C chr12 51168391 51168393 HIFD_KRT6A:c.1410_1411ins117 - NM_005554(KRT6A):c.1410_1411ins117 chr12 51172748 51172749 HIFD_KRT6A:c.491G>C - NM_005554(KRT6A):c.491G>C chr12 51172728 51172729 HIFD_KRT6A:c.511A>G - NM_005554(KRT6A):c.511A>G chr12 51168399 51168400 HIFD_KRT6A:c.1403T>A - NM_005554(KRT6A):c.1403T>A chr12 51172728 51172729 HIFD_KRT6A:c.511A>T - NM_005554(KRT6A):c.511A>T chr12 51172718 51172719 HIFD_KRT6A:c.521T>G - NM_005554(KRT6A):c.521T>G chr12 51127838 51127839 HIFD_KRT6B:c.1414G>A - NM_005555(KRT6B):c.1414G>A chr12 51131611 51131614 HIFD_KRT6B:c.516_518delCAA - NM_005555(KRT6B):c.516_518delCAA chr12 51584874 51584875 HIFD_KRT8:c.158G>T - NM_002273(KRT8):c.158G>T chr12 51577538 51577539 HIFD_KRT8:c.1392G>T - NM_002273(KRT8):c.1392G>T chr12 51578856 51578857 HIFD_KRT8:c.1075G>A - NM_002273(KRT8):c.1075G>A chr12 51577630 51577631 HIFD_KRT8:c.1300G>A - NM_002273(KRT8):c.1300G>A chr12 51577570 51577571 HIFD_KRT8:c.1360C>T - NM_002273(KRT8):c.1360C>T chr12 51577531 51577532 HIFD_KRT8:c.1399_1399insC - NM_002273(KRT8):c.1399_1399insC chr12 51578793 51578794 HIFD_KRT8:c.1138G>A - NM_002273(KRT8):c.1138G>A chr12 51584955 51584956 HIFD_KRT8:c.77C>G - NM_002273(KRT8):c.77C>G chr12 51584868 51584869 HIFD_KRT8:c.164G>C - NM_002273(KRT8):c.164G>C chr12 51578683 51578684 HIFD_KRT8:c.1202+46A>T - NM_002273(KRT8):c.1202+46A>T chr12 51578501 51578502 HIFD_KRT8:c.1261+10delC - NM_002273(KRT8):c.1261+10delC chr12 51578491 51578492 HIFD_KRT8:c.1261+20G>A - NM_002273(KRT8):c.1261+20G>A chr12 51577470 51577471 HIFD_KRT8:c.*8C>T - NM_002273(KRT8):c.*8C>T chr12 51577447 51577448 HIFD_KRT8:c.*31C>T - NM_002273(KRT8):c.*31C>T chr12 51577440 51577441 HIFD_KRT8:c.*38G>A - NM_002273(KRT8):c.*38G>A chr12 51584848 51584849 HIFD_KRT8:c.[184G>T; =]+[=; 1022G>A] - NM_002273(KRT8):c.[..184G>T..] chr12 51578909 51578910 HIFD_KRT8:c.[184G>T; =]+[=; 1022G>A] - NM_002273(KRT8):c.[..1022G>A..] chr12 51578910 51578911 HIFD_KRT8:c.1021C>T - NM_002273(KRT8):c.1021C>T chr12 50967195 50967196 HIFD_KRT81:c.1204G>A - NM_002281(KRT81):c.1204G>A chr12 50967162 50967163 HIFD_KRT81:c.1237G>A - NM_002281(KRT81):c.1237G>A chr12 50995986 50995987 HIFD_KRT83:c.1219G>A - NM_002282(KRT83):c.1219G>A chr12 51047223 51047224 HIFD_KRT85:c.233G>A - NM_002283(KRT85):c.233G>A chr12 50986322 50986323 HIFD_KRT86:c.1239G>T + NM_002284(KRT86):c.1239G>T chr12 50986320 50986321 HIFD_KRT86:c.1237G>A + NM_002284(KRT86):c.1237G>A chr12 50986287 50986288 HIFD_KRT86:c.1204G>A + NM_002284(KRT86):c.1204G>A chr12 50982306 50982307 HIFD_KRT86:c.340A>G + NM_002284(KRT86):c.340A>G chr12 50982306 50982307 HIFD_KRT86:c.340A>C + NM_002284(KRT86):c.340A>C chr12 50986287 50986288 HIFD_KRT86:c.1204G>C + NM_002284(KRT86):c.1204G>C chr12 50982319 50982320 HIFD_KRT86:c.353C>A + NM_002284(KRT86):c.353C>A chr2 220111165 220111166 HIFD_DES:c.1009G>C + NM_001927(DES):c.1009G>C chr2 220111620 220111621 HIFD_DES:c.[1078G>C; 1178A>T] + NM_001927(DES):c.[..1078G>C..] chr2 220111720 220111721 HIFD_DES:c.[1078G>C; 1178A>T] + NM_001927(DES):c.[..1178A>T..] chr2 220109205 220109226 HIFD_DES:c.517_537del21 + NM_001927(DES):c.517_537del21 chr2 220115953 220115954 HIFD_DES:c.1353C>G + NM_001927(DES):c.1353C>G chr2 220111576 220111577 HIFD_DES:c.1034T>C + NM_001927(DES):c.1034T>C chr2 220111566 220111567 HIFD_DES:c.1024A>G + NM_001927(DES):c.1024A>G chr2 220111758 220111759 HIFD_DES:c.1216C>T + NM_001927(DES):c.1216C>T chr2 220110575 220110576 HIFD_DES:c.735+3A>G + NM_001927(DES):c.735+3A>G chr2 220111696 220111697 HIFD_DES:c.1154T>C + NM_001927(DES):c.1154T>C chr2 220110476 220110477 HIFD_DES:c.640-1G>A + NM_001927(DES):c.640-1G>A chr2 220111708 220111709 HIFD_DES:c.1166A>C + NM_001927(DES):c.1166A>C chr2 220110557 220110559 HIFD_DES:c.720_721insA + NM_001927(DES):c.720_721insA chr2 220111611 220111612 HIFD_DES:c.1069G>C + NM_001927(DES):c.1069G>C chr2 220111651 220111652 HIFD_DES:c.1109T>C + NM_001927(DES):c.1109T>C chr2 220111617 220111626 HIFD_DES:c.1075_1083delGAGGCCAGT + NM_001927(DES):c.1075_1083delGAGGCCAGT chr2 220111638 220111641 HIFD_DES:c.1096_1098delAAC + NM_001927(DES):c.1096_1098delAAC chr2 220108693 220108694 HIFD_DES:c.5G>T + NM_001927(DES):c.5G>T chr2 220108825 220108826 HIFD_DES:c.137C>T + NM_001927(DES):c.137C>T chr2 220108825 220108826 HIFD_DES:c.137C>A + NM_001927(DES):c.137C>A chr2 220115946 220115947 HIFD_DES:c.1346A>C + NM_001927(DES):c.1346A>C chr2 220110572 220110573 HIFD_DES:c.735G>C + NM_001927(DES):c.735G>C chr2 220111591 220111592 HIFD_DES:c.1049G>C + NM_001927(DES):c.1049G>C chr2 220111606 220111607 HIFD_DES:c.1064G>C + NM_001927(DES):c.1064G>C chr2 220116208 220116209 HIFD_DES:c.1405G>A + NM_001927(DES):c.1405G>A chr2 220111779 220111780 HIFD_DES:c.1237G>A + NM_001927(DES):c.1237G>A chr2 220111668 220111669 HIFD_DES:c.1126C>T + NM_001927(DES):c.1126C>T chr2 220108734 220108735 HIFD_DES:c.46C>T + NM_001927(DES):c.46C>T chr2 220115958 220115959 HIFD_DES:c.1358C>T + NM_001927(DES):c.1358C>T chr2 220110574 220110584 HIFD_DES:c.735+2_735+11delTATACCTTGG + NM_001927(DES):c.735+2_735+11delTATACCTTGG chr2 220115925 220115926 HIFD_DES:c.1325C>T + NM_001927(DES):c.1325C>T chr2 220115960 220115961 HIFD_DES:c.1360C>T + NM_001927(DES):c.1360C>T chr2 220116182 220116183 HIFD_DES:c.1379G>T + NM_001927(DES):c.1379G>T chr2 220111169 220111170 HIFD_DES:c.1013T>G + NM_001927(DES):c.1013T>G chr2 220111737 220111738 HIFD_DES:c.1195G>T + NM_001927(DES):c.1195G>T chr2 220111743 220111744 HIFD_DES:c.1201G>A + NM_001927(DES):c.1201G>A chr2 220109010 220109011 HIFD_DES:c.322G>A + NM_001927(DES):c.322G>A chr2 220110878 220110879 HIFD_DES:c.893C>T + NM_001927(DES):c.893C>T chr2 220111090 220111091 HIFD_DES:c.934G>A + NM_001927(DES):c.934G>A chr2 220111590 220111591 HIFD_DES:c.1048C>T + NM_001927(DES):c.1048C>T chr2 220116178 220116179 HIFD_DES:c.1375G>A + NM_001927(DES):c.1375G>A chr2 220114013 220114014 HIFD_DES:c.1255C>T + NM_001927(DES):c.1255C>T chr2 220111717 220111718 HIFD_DES:c.1175T>C + NM_001927(DES):c.1175T>C chr2 220111641 220111642 HIFD_DES:c.1099A>T + NM_001927(DES):c.1099A>T chr2 220108726 220108727 HIFD_DES:c.38C>T + NM_001927(DES):c.38C>T chr2 220110475 220110476 HIFD_DES:c.640-2A>G + NM_001927(DES):c.640-2A>G chr17 40348145 40348146 HIFD_GFAP:c.235C>T - NM_002055(GFAP):c.235C>T chr17 40346227 40346228 HIFD_GFAP:c.715C>T - NM_002055(GFAP):c.715C>T chr17 40346226 40346227 HIFD_GFAP:c.716G>A - NM_002055(GFAP):c.716G>A chr17 40346169 40346170 HIFD_GFAP:c.773G>C - NM_002055(GFAP):c.773G>C chr17 40340968 40340969 HIFD_GFAP:c.1246C>T - NM_002055(GFAP):c.1246C>T chr17 40348144 40348145 HIFD_GFAP:c.236G>A - NM_002055(GFAP):c.236G>A chr17 40346227 40346228 HIFD_GFAP:c.[715C>T; 140C>T] - NM_002055(GFAP):c.[..715C>T..] chr17 40348240 40348241 HIFD_GFAP:c.[715C>T; 140C>T] - NM_002055(GFAP):c.[..140C>T..] chr17 40348154 40348155 HIFD_GFAP:c.226C>T - NM_002055(GFAP):c.226C>T chr17 40348151 40348152 HIFD_GFAP:c.229A>T - NM_002055(GFAP):c.229A>T chr17 40348118 40348119 HIFD_GFAP:c.262C>T - NM_002055(GFAP):c.262C>T chr17 40348118 40348119 HIFD_GFAP:c.262C>A - NM_002055(GFAP):c.262C>A chr17 40346211 40346212 HIFD_GFAP:c.731C>T - NM_002055(GFAP):c.731C>T chr17 40348120 40348121 HIFD_GFAP:c.260T>G - NM_002055(GFAP):c.260T>G chr17 40348162 40348163 HIFD_GFAP:c.218T>G - NM_002055(GFAP):c.218T>G chr17 40348145 40348146 HIFD_GFAP:c.235C>G - NM_002055(GFAP):c.235C>G chr17 40346218 40346219 HIFD_GFAP:c.724T>G - NM_002055(GFAP):c.724T>G chr17 40344139 40344140 HIFD_GFAP:c.1117G>A - NM_002055(GFAP):c.1117G>A chr17 40344170 40344171 HIFD_GFAP:c.1086G>C - NM_002055(GFAP):c.1086G>C chr17 40348090 40348091 HIFD_GFAP:c.290T>C - NM_002055(GFAP):c.290T>C chr17 40346226 40346227 HIFD_GFAP:c.716G>C - NM_002055(GFAP):c.716G>C chr17 40344644 40344645 HIFD_GFAP:c.827G>T - NM_002055(GFAP):c.827G>T chr17 40348144 40348145 HIFD_GFAP:c.236G>T - NM_002055(GFAP):c.236G>T chr17 40348132 40348133 HIFD_GFAP:c.248C>A - NM_002055(GFAP):c.248A>C chr17 40344201 40344202 HIFD_GFAP:c.1055T>C - NM_002055(GFAP):c.1055T>C chr17 40348111 40348112 HIFD_GFAP:c.269T>C - NM_002055(GFAP):c.269T>C chr17 40344264 40344265 HIFD_GFAP:c.992T>C - NM_002055(GFAP):c.992T>C chr17 40348193 40348194 HIFD_GFAP:c.187A>C - NM_002055(GFAP):c.187A>C chr17 40348154 40348155 HIFD_GFAP:c.226C>G - NM_002055(GFAP):c.226C>G chr17 40348150 40348151 HIFD_GFAP:c.230A>G - NM_002055(GFAP):c.230A>G chr17 40346323 40346324 HIFD_GFAP:c.619G>A - NM_002055(GFAP):c.619G>A chr17 40346323 40346324 HIFD_GFAP:c.619G>C - NM_002055(GFAP):c.619G>C chr17 40346314 40346315 HIFD_GFAP:c.628G>A - NM_002055(GFAP):c.628G>A chr17 40346238 40346239 HIFD_GFAP:c.704T>C - NM_002055(GFAP):c.704T>C chr17 40346184 40346185 HIFD_GFAP:c.758C>G - NM_002055(GFAP):c.758C>G chr17 40344636 40344637 HIFD_GFAP:c.835A>G - NM_002055(GFAP):c.835A>G chr17 40344181 40344182 HIFD_GFAP:c.1075C>G - NM_002055(GFAP):c.1075C>G chr17 40344166 40344167 HIFD_GFAP:c.1090G>C - NM_002055(GFAP):c.1090G>C chr17 40344160 40344161 HIFD_GFAP:c.1096T>C - NM_002055(GFAP):c.1096T>C chr17 40344139 40344140 HIFD_GFAP:c.1117G>C - NM_002055(GFAP):c.1117G>C chr17 40344135 40344136 HIFD_GFAP:c.1121A>G - NM_002055(GFAP):c.1121A>G chr17 40348037 40348038 HIFD_GFAP:c.343G>T - NM_002055(GFAP):c.343G>T chr17 40344144 40344145 HIFD_GFAP:c.1112A>G - NM_002055(GFAP):c.1112A>G chr17 40348172 40348173 HIFD_GFAP:c.208C>T - NM_002055(GFAP):c.208C>T chr17 40348121 40348125 HIFD_GFAP:c.256_259delAAGGinsGAGT - NM_002055(GFAP):c.256_259delAAGGinsGAGT chr17 40343522 40343523 HIFD_GFAP:c.1157A>T - NM_002055(GFAP):c.1157A>T chr17 40346226 40346227 HIFD_GFAP:c.716G>T - NM_002055(GFAP):c.716G>T chr17 40341036 40341037 HIFD_GFAP:c.1178G>T - NM_002055(GFAP):c.1178G>T chr17 40344672 40344673 HIFD_GFAP:c.[799G>C]+[*28C>G] - NM_002055(GFAP):c.[..799G>C..] chr17 40340212 40340213 HIFD_GFAP:c.[799G>C]+[*28C>G] - NM_002055(GFAP):c.[..*28C>G..] chr17 40344177 40344178 HIFD_GFAP:c.1079A>T - NM_002055(GFAP):c.1079A>T chr17 40344159 40344160 HIFD_GFAP:c.1097A>G - NM_002055(GFAP):c.1097A>G chr17 40344165 40344166 HIFD_GFAP:c.1091C>T - NM_002055(GFAP):c.1091C>T chr17 40348159 40348160 HIFD_GFAP:c.221T>C - NM_002055(GFAP):c.221T>C chr17 40346172 40346173 HIFD_GFAP:c.770A>G - NM_002055(GFAP):c.770A>G chr17 40340965 40340968 HIFD_GFAP:c.1247_1249delGGGinsGG - NM_002055(GFAP):c.1247_1249delGGGinsGG chr17 40348133 40348134 HIFD_GFAP:c.247T>C - NM_002055(GFAP):c.247T>C chr12 47975478 47975479 HIFD_PRPH:c.229delC + NM_006262(PRPH):c.229delC chr8 24828216 24828217 HIFD_NEF3:c.1006G>A + NM_005382(NEF3):c.1006G>A chr8 24827314 24827315 HIFD_NEF3:c.104T>A + NM_005382(NEF3):c.104T>A chr8 24828047 24828048 HIFD_NEF3:c.837C>A + NM_005382(NEF3):c.837C>A chr8 24831535 24831536 HIFD_NEF3:c.2263G>T + NM_005382(NEF3):c.2263G>T chr8 24831844 24831845 HIFD_NEF3:c.2572G>A + NM_005382(NEF3):c.2572G>A chr8 24831425 24831426 HIFD_NEF3:c.2153T>C + NM_005382(NEF3):c.2153T>C chr22 28210550 28210553 HIFD_NEFH:c.2368_2370delAAG + NM_021076(NEFH):c.2368_2370delAAG chr22 28209764 28209866 HIFD_NEFH:c.1582_1683del102 + NM_021076(NEFH):c.1582_1683del102 chr22 28210306 28210308 HIFD_NEFH:c.2124_2125ins84 + NM_021076(NEFH):c.2124_2125ins84 chr22 28210147 28210171 HIFD_NEFH:c.1965_1988del24 + NM_021076(NEFH):c.1965_1988del24 chr22 28210171 28210189 HIFD_NEFH:c.1989_2006del18 + NM_021076(NEFH):c.1989_2006del18 chr22 28210171 28210213 HIFD_NEFH:c.1989_2030del42 + NM_021076(NEFH):c.1989_2030del42 chr22 28210412 28210430 HIFD_NEFH:c.2230_2247del18 + NM_021076(NEFH):c.2230_2247del18 chr22 28209736 28209737 HIFD_NEFH:c.1554A>C + NM_021076(NEFH):c.1554A>C chr22 28209811 28209812 HIFD_NEFH:c.1629A>G + NM_021076(NEFH):c.1629A>G chr22 28210018 28210019 HIFD_NEFH:c.1836A>C + NM_021076(NEFH):c.1836A>C chr22 28210060 28210061 HIFD_NEFH:c.1878A>C + NM_021076(NEFH):c.1878A>C chr22 28201073 28201074 HIFD_NEFH:c.269C>T + NM_021076(NEFH):c.269C>T chr22 28201549 28201550 HIFD_NEFH:c.745G>A + NM_021076(NEFH):c.745G>A chr22 28204087 28204088 HIFD_NEFH:c.1054C>A + NM_021076(NEFH):c.1054C>A chr22 28206319 28206320 HIFD_NEFH:c.1138G>A + NM_021076(NEFH):c.1138G>A chr8 24868951 24868952 HIFD_NEFL:c.995A>C - NM_006158(NEFL):c.995A>C chr8 24869923 24869925 HIFD_NEFL:c.22_23delCCinsAG - NM_006158(NEFL):c.22_23delCCinsAG chr8 24869882 24869883 HIFD_NEFL:c.64C>A - NM_006158(NEFL):c.64C>A chr8 24869653 24869654 HIFD_NEFL:c.293A>G - NM_006158(NEFL):c.293A>G chr8 24869500 24869501 HIFD_NEFL:c.446C>T - NM_006158(NEFL):c.446C>T chr8 24869882 24869883 HIFD_NEFL:c.64C>T - NM_006158(NEFL):c.64C>T chr8 24869923 24869924 HIFD_NEFL:c.23C>G - NM_006158(NEFL):c.23C>G chr8 24869923 24869924 HIFD_NEFL:c.23C>T - NM_006158(NEFL):c.23C>T chr8 24869923 24869924 HIFD_NEFL:c.23C>A - NM_006158(NEFL):c.23C>A chr8 24869927 24869928 HIFD_NEFL:c.19G>A - NM_006158(NEFL):c.19G>A chr8 24869678 24869679 HIFD_NEFL:c.268G>A - NM_006158(NEFL):c.268G>A chr8 24867206 24867207 HIFD_NEFL:c.1189G>A - NM_006158(NEFL):c.1189G>A chr8 24868948 24868949 HIFD_NEFL:c.998T>C - NM_006158(NEFL):c.998T>C chr8 24866295 24866297 HIFD_NEFL:c.1575_1576insG - NM_006158(NEFL):c.1575_1576insG chr8 24869886 24869899 HIFD_NEFL:c.48_60dup13 - NM_006158(NEFL):c.48_60dup13 chr8 24869143 24869144 HIFD_NEFL:c.803T>C - NM_006158(NEFL):c.803T>C chr8 24867209 24867210 HIFD_NEFL:c.1186G>A - NM_006158(NEFL):c.1186G>A chr8 24868969 24868984 HIFD_NEFL:c.963_977del15 - NM_006158(NEFL):c.963_977del15 chr8 24869665 24869666 HIFD_NEFL:c.281T>C - NM_006158(NEFL):c.281T>C chr1 152897797 152897798 HIFD_LMNA:c.16C>T + NM_170707(LMNA):c.16C>T chr1 152919276 152919277 HIFD_LMNA:c.1357C>T + NM_170707(LMNA):c.1357C>T chr1 152920067 152920068 HIFD_LMNA:c.1580G>C + NM_170707(LMNA):c.1580G>C chr1 152920076 152920077 HIFD_LMNA:c.1589T>C + NM_170707(LMNA):c.1589T>C chr1 152897959 152897960 HIFD_LMNA:c.178C>G + NM_170707(LMNA):c.178C>G chr1 152898035 152898036 HIFD_LMNA:c.254T>G + NM_170707(LMNA):c.254T>G chr1 152917337 152917338 HIFD_LMNA:c.585C>G + NM_170707(LMNA):c.585C>G chr1 152917360 152917361 HIFD_LMNA:c.608A>G + NM_170707(LMNA):c.608A>G chr1 152919848 152919849 HIFD_LMNA:c.1445G>A + NM_170707(LMNA):c.1445G>A chr1 152919847 152919848 HIFD_LMNA:c.1444C>T + NM_170707(LMNA):c.1444C>T chr1 152919848 152919849 HIFD_LMNA:c.1445G>T + NM_170707(LMNA):c.1445G>T chr1 152919861 152919862 HIFD_LMNA:c.1458G>C + NM_170707(LMNA):c.1458G>C chr1 152919861 152919862 HIFD_LMNA:c.1458G>T + NM_170707(LMNA):c.1458G>T chr1 152918786 152918787 HIFD_LMNA:c.959delT + NM_170707(LMNA):c.959delT chr1 152921397 152921398 HIFD_LMNA:c.1745G>A + NM_170707(LMNA):c.1745G>A chr1 152919797 152919798 HIFD_LMNA:c.1394G>A + NM_170707(LMNA):c.1394G>A chr1 152917774 152917775 HIFD_LMNA:c.746G>A + NM_170707(LMNA):c.746G>A chr1 152918834 152918835 HIFD_LMNA:c.1007G>A + NM_170707(LMNA):c.1007G>A chr1 152919809 152919810 HIFD_LMNA:c.1406T>C + NM_170707(LMNA):c.1406T>C chr1 152920070 152920071 HIFD_LMNA:c.1583C>A + NM_170707(LMNA):c.1583C>A chr1 152917692 152917693 HIFD_LMNA:c.664C>T + NM_170707(LMNA):c.664C>T chr1 152918957 152918958 HIFD_LMNA:c.1130G>A + NM_170707(LMNA):c.1130G>A chr1 152920100 152920101 HIFD_LMNA:c.1608+5G>C + NM_170707(LMNA):c.1608+5G>C chr1 152917374 152917377 HIFD_LMNA:c.622_624delAAG + NM_170707(LMNA):c.622_624delAAG chr1 152913571 152913572 HIFD_LMNA:c.448A>C + NM_170707(LMNA):c.448A>C chr1 152917809 152917812 HIFD_LMNA:c.781_783delAAG + NM_170707(LMNA):c.781_783delAAG chr1 152897915 152897916 HIFD_LMNA:c.134A>G + NM_170707(LMNA):c.134A>G chr1 152897930 152897931 HIFD_LMNA:c.149G>C + NM_170707(LMNA):c.149G>C chr1 152897969 152897970 HIFD_LMNA:c.188T>G + NM_170707(LMNA):c.188T>G chr1 152917693 152917694 HIFD_LMNA:c.665A>C + NM_170707(LMNA):c.665A>C chr1 152917723 152917724 HIFD_LMNA:c.695G>A + NM_170707(LMNA):c.695G>A chr1 152918120 152918121 HIFD_LMNA:c.881A>C + NM_170707(LMNA):c.881A>C chr1 152918899 152918900 HIFD_LMNA:c.1072G>A + NM_170707(LMNA):c.1072G>A chr1 152918939 152918940 HIFD_LMNA:c.1112T>A + NM_170707(LMNA):c.1112T>A chr1 152919287 152919288 HIFD_LMNA:c.1368C>A + NM_170707(LMNA):c.1368C>A chr1 152920046 152920047 HIFD_LMNA:c.1559G>C + NM_170707(LMNA):c.1559G>C chr1 152898115 152898118 HIFD_LMNA:c.334_336delGAG + NM_170707(LMNA):c.334_336delGAG chr1 152919800 152919801 HIFD_LMNA:c.1397_1397delA + NM_170707(LMNA):c.1397_1397delA chr1 152921403 152921404 HIFD_LMNA:c.1751G>A + NM_170707(LMNA):c.1751G>A chr1 152921582 152921583 HIFD_LMNA:c.1930C>T + NM_170707(LMNA):c.1930C>T chr1 152897855 152897856 HIFD_LMNA:c.74G>C + NM_170707(LMNA):c.74G>C chr1 152897908 152897909 HIFD_LMNA:c.127G>A + NM_170707(LMNA):c.127G>A chr1 152897929 152897930 HIFD_LMNA:c.148C>A + NM_170707(LMNA):c.148C>A chr1 152913521 152913522 HIFD_LMNA:c.398G>C + NM_170707(LMNA):c.398G>C chr1 152917340 152917349 HIFD_LMNA:c.588_596delGCTGCAGAC + NM_170707(LMNA):c.588_596delGCTGCAGAC chr1 152921523 152921524 HIFD_LMNA:c.1871G>A + NM_170707(LMNA):c.1871G>A chr1 152919286 152919287 HIFD_LMNA:c.1367A>T + NM_170707(LMNA):c.1367A>T chr1 152919844 152919845 HIFD_LMNA:c.1441T>C + NM_170707(LMNA):c.1441T>C chr1 152918131 152918132 HIFD_LMNA:c.892C>T + NM_170707(LMNA):c.892C>T chr1 152898112 152898113 HIFD_LMNA:c.331G>T + NM_170707(LMNA):c.331G>T chr1 152898070 152898071 HIFD_LMNA:c.289A>G + NM_170707(LMNA):c.289A>G chr1 152917320 152917321 HIFD_LMNA:c.568C>T + NM_170707(LMNA):c.568C>T chr1 152918776 152918777 HIFD_LMNA:c.949G>A + NM_170707(LMNA):c.949G>A chr1 152897863 152897864 HIFD_LMNA:c.82C>T + NM_170707(LMNA):c.82C>T chr1 152897965 152897966 HIFD_LMNA:c.184C>G + NM_170707(LMNA):c.184C>G chr1 152918957 152918958 HIFD_LMNA:c.1130G>T + NM_170707(LMNA):c.1130G>T chr1 152920067 152920068 HIFD_LMNA:c.1580G>A + NM_170707(LMNA):c.1580G>A chr1 152919120 152919121 HIFD_LMNA:c.1201C>T + NM_170707(LMNA):c.1201C>T chr1 152918146 152918147 HIFD_LMNA:c.907T>C + NM_170707(LMNA):c.907T>C chr1 152897969 152897970 HIFD_LMNA:c.188T>A + NM_170707(LMNA):c.188T>A chr1 152897875 152897878 HIFD_LMNA:c.94_96delAAG + NM_170707(LMNA):c.94_96delAAG chr1 152917672 152917673 HIFD_LMNA:c.644T>C + NM_170707(LMNA):c.644T>C chr1 152898047 152898048 HIFD_LMNA:c.266G>T + NM_170707(LMNA):c.266G>T chr1 152921370 152921371 HIFD_LMNA:c.1718C>T + NM_170707(LMNA):c.1718C>T chr1 152913521 152913522 HIFD_LMNA:c.398G>T + NM_170707(LMNA):c.398G>T chr1 152921476 152921477 HIFD_LMNA:c.1824C>T + NM_170707(LMNA):c.1824C>T chr1 152913556 152913557 HIFD_LMNA:c.433G>A + NM_170707(LMNA):c.433G>A chr1 152921474 152921475 HIFD_LMNA:c.1822G>A + NM_170707(LMNA):c.1822G>A chr1 152919814 152919815 HIFD_LMNA:c.1411C>T + NM_170707(LMNA):c.1411C>T chr1 152920066 152920067 HIFD_LMNA:c.1579C>T + NM_170707(LMNA):c.1579C>T chr1 152913604 152913605 HIFD_LMNA:c.481G>A + NM_170707(LMNA):c.481G>A chr1 152897809 152897811 HIFD_LMNA:c.28_29insA + NM_170707(LMNA):c.28_29insA chr1 152897950 152897951 HIFD_LMNA:c.169G>C + NM_170707(LMNA):c.169G>C chr1 152913542 152913543 HIFD_LMNA:c.419T>G + NM_170707(LMNA):c.419T>G chr1 152913636 152913637 HIFD_LMNA:c.513G>A + NM_170707(LMNA):c.513G>A chr1 152920529 152920530 HIFD_LMNA:c.1621C>T + NM_170707(LMNA):c.1621C>T chr1 152897884 152897885 HIFD_LMNA:c.103C>G + NM_170707(LMNA):c.103C>G chr1 152917771 152917772 HIFD_LMNA:c.743T>C + NM_170707(LMNA):c.743T>C chr1 152917828 152917829 HIFD_LMNA:c.800A>G + NM_170707(LMNA):c.800A>G chr1 152919256 152919257 HIFD_LMNA:c.1337A>T + NM_170707(LMNA):c.1337A>T chr1 152920070 152920071 HIFD_LMNA:c.1583C>G + NM_170707(LMNA):c.1583C>G chr1 152920530 152920531 HIFD_LMNA:c.1622G>A + NM_170707(LMNA):c.1622G>A chr1 152897854 152897855 HIFD_LMNA:c.73C>G + NM_170707(LMNA):c.73C>G chr1 152897880 152897881 HIFD_LMNA:c.99G>T + NM_170707(LMNA):c.99G>T chr1 152897810 152897811 HIFD_LMNA:c.29C>T + NM_170707(LMNA):c.29C>T chr1 152921385 152921386 HIFD_LMNA:c.1733A>T + NM_170707(LMNA):c.1733A>T chr1 152921520 152921521 HIFD_LMNA:c.1868C>G + NM_170707(LMNA):c.1868C>G chr1 152913550 152913551 HIFD_LMNA:c.427T>C + NM_170707(LMNA):c.427T>C chr1 152918873 152918874 HIFD_LMNA:c.1046G>T + NM_170707(LMNA):c.1046G>T chr1 152920534 152920535 HIFD_LMNA:c.1626G>C + NM_170707(LMNA):c.1626G>C chr1 152921400 152921401 HIFD_LMNA:c.1748C>T + NM_170707(LMNA):c.1748C>T chr1 152921400 152921401 HIFD_LMNA:c.[1748C>T; =]+[=; 1583C>T] + NM_170707(LMNA):c.[..1748C>T..] chr1 152920070 152920071 HIFD_LMNA:c.[1748C>T; =]+[=; 1583C>T] + NM_170707(LMNA):c.[..1583C>T..] chr1 152921621 152921622 HIFD_LMNA:c.1968+1G>A + NM_170707(LMNA):c.1968+1G>A chr1 152913551 152913552 HIFD_LMNA:c.428C>T + NM_170707(LMNA):c.428C>T chr1 152917805 152917806 HIFD_LMNA:c.777T>A + NM_170707(LMNA):c.777T>A chr1 152919106 152919107 HIFD_LMNA:c.1187A>G + NM_170707(LMNA):c.1187A>G chr1 152917658 152917659 HIFD_LMNA:c.640-10A>G + NM_170707(LMNA):c.640-10A>G chr1 152921582 152921583 HIFD_LMNA:c.1930C>A + NM_170707(LMNA):c.1930C>A chr1 152919981 152919982 HIFD_LMNA:c.1494G>T + NM_170707(LMNA):c.1494G>T chr1 152921456 152921457 HIFD_LMNA:c.1804G>A + NM_170707(LMNA):c.1804G>A chr1 152918103 152918107 HIFD_LMNA:c.864_867delCCAC + NM_170707(LMNA):c.864_867delCCAC chr1 152920073 152920074 HIFD_LMNA:c.1586C>T + NM_170707(LMNA):c.1586C>T chr1 152917327 152917328 HIFD_LMNA:c.575A>G + NM_170707(LMNA):c.575A>G chr1 152920529 152920530 HIFD_LMNA:c.1621C>A + NM_170707(LMNA):c.1621C>A chr1 152919846 152919847 HIFD_LMNA:c.1443C>G + NM_170707(LMNA):c.1443C>G chr1 152920022 152920023 HIFD_LMNA:c.1535T>C + NM_170707(LMNA):c.1535T>C chr1 152913548 152913550 HIFD_LMNA:c.425_426ins21 + NM_170707(LMNA):c.425_426ins21 chr1 152913517 152913518 HIFD_LMNA:c.394G>C + NM_170707(LMNA):c.394G>C chr1 152918912 152918913 HIFD_LMNA:c.1085_1085delT + NM_170707(LMNA):c.1085_1085delT chr1 152919980 152919981 HIFD_LMNA:c.1493_1493delG + NM_170707(LMNA):c.1493_1493delG chr1 152918803 152918804 HIFD_LMNA:c.976T>A + NM_170707(LMNA):c.976T>A chr1 152898025 152898026 HIFD_LMNA:c.244G>A + NM_170707(LMNA):c.244G>A chr1 152919896 152919897 HIFD_LMNA:c.1488+5G>C + NM_170707(LMNA):c.1488+5G>C chr1 152919848 152919849 HIFD_LMNA:c.[1445G>A; =]+[=; 1318G>A] + NM_170707(LMNA):c.[..1445G>A..] chr1 152919237 152919238 HIFD_LMNA:c.[1445G>A; =]+[=; 1318G>A] + NM_170707(LMNA):c.[..1318G>A..] chr1 152918147 152918149 HIFD_LMNA:c.908_909delCT + NM_170707(LMNA):c.908_909delCT chr1 152921612 152921613 HIFD_LMNA:c.1960C>T + NM_170707(LMNA):c.1960C>T chr1 152920066 152920068 HIFD_LMNA:c.1579_1580insCTGC + NM_170707(LMNA):c.1579_1580insCTGC chr1 152897812 152897813 HIFD_LMNA:c.31delC + NM_170707(LMNA):c.31delC chr1 152918984 152918985 HIFD_LMNA:c.1157G>A + NM_170707(LMNA):c.1157G>A chr1 152913542 152913543 HIFD_LMNA:c.419T>C + NM_170707(LMNA):c.419T>C chr1 152897779 152897794 HIFD_LMNA:c.-3_12del15 + NM_170707(LMNA):c.-3_12del15 chr1 152917359 152917360 HIFD_LMNA:c.607G>A + NM_170707(LMNA):c.607G>A chr1 152917701 152917702 HIFD_LMNA:c.673C>T + NM_170707(LMNA):c.673C>T chr1 152920070 152920071 HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] + NM_170707(LMNA):c.[..1583C>T..] chr1 152920527 152920528 HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] + NM_170707(LMNA):c.[..1619T>C..] chr1 152897880 152897881 HIFD_LMNA:c.99G>C + NM_170707(LMNA):c.99G>C chr1 152897897 152897898 HIFD_LMNA:c.116A>G + NM_170707(LMNA):c.116A>G chr1 152917803 152917804 HIFD_LMNA:c.775T>G + NM_170707(LMNA):c.775T>G chr1 152918973 152918974 HIFD_LMNA:c.1146C>T + NM_170707(LMNA):c.1146C>T chr1 152918819 152918820 HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] + NM_170707(LMNA):c.[..992G>A..] chr1 152918866 152918867 HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] + NM_170707(LMNA):c.[..1039G>A..] chr1 152919880 152919881 HIFD_LMNA:c.1477C>T + NM_170707(LMNA):c.1477C>T chr1 152917716 152917717 HIFD_LMNA:c.688G>A + NM_170707(LMNA):c.688G>A chr1 152919114 152919115 HIFD_LMNA:c.1195C>T + NM_170707(LMNA):c.1195C>T chr1 152897957 152897958 HIFD_LMNA:c.176T>G + NM_170707(LMNA):c.176T>G chr1 152921473 152921474 HIFD_LMNA:c.1821G>A + NM_170707(LMNA):c.1821G>A chr1 152897939 152897940 HIFD_LMNA:c.158A>T + NM_170707(LMNA):c.158A>T chr1 152917308 152917309 HIFD_LMNA:c.556G>A + NM_170707(LMNA):c.556G>A chr1 152918094 152918095 HIFD_LMNA:c.855delG + NM_170707(LMNA):c.855delG chr1 152918819 152918820 HIFD_LMNA:c.992G>C + NM_170707(LMNA):c.992G>C chr1 152919289 152919290 HIFD_LMNA:c.1370delA + NM_170707(LMNA):c.1370delA chr1 152920013 152920015 HIFD_LMNA:c.1526_1527insC + NM_170707(LMNA):c.1526_1527insC chr1 152919081 152919082 HIFD_LMNA:c.1162C>T + NM_170707(LMNA):c.1162C>T chr1 152919287 152919290 HIFD_LMNA:c.1368_1370delCAA + NM_170707(LMNA):c.1368_1370delCAA chr1 152917376 152917379 HIFD_LMNA:c.624_626delGAA + NM_170707(LMNA):c.624_626delGAA chr1 152919300 152919301 HIFD_LMNA:c.1380+1G>A + NM_170707(LMNA):c.1380+1G>A chr1 152919234 152919235 HIFD_LMNA:c.1315C>T + NM_170707(LMNA):c.1315C>T chr1 152919999 152920001 HIFD_LMNA:c.1512_1513insAG + NM_170707(LMNA):c.1512_1513insAG chr1 152917337 152917338 HIFD_LMNA:c.585C>A + NM_170707(LMNA):c.585C>A chr1 152919237 152919238 HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] + NM_170707(LMNA):c.[..1318G>A..] chr1 152920067 152920068 HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] + NM_170707(LMNA):c.[..1580G>A..] chr1 152918788 152918789 HIFD_LMNA:c.961C>T + NM_170707(LMNA):c.961C>T chr1 152917377 152917378 HIFD_LMNA:c.625_625delA + NM_170707(LMNA):c.625_625delA chr1 152897854 152897855 HIFD_LMNA:c.73C>T + NM_170707(LMNA):c.73C>T chr1 152920530 152920531 HIFD_LMNA:c.1622G>C + NM_170707(LMNA):c.1622G>C chr1 152918872 152918873 HIFD_LMNA:c.1045C>T + NM_170707(LMNA):c.1045C>T chr1 152921424 152921425 HIFD_LMNA:c.1772G>T + NM_170707(LMNA):c.1772G>T chr1 152920045 152920046 HIFD_LMNA:c.1558T>G + NM_170707(LMNA):c.1558T>G chr1 152918969 152918970 HIFD_LMNA:c.1142A>C + NM_170707(LMNA):c.1142A>C chr1 152898046 152898047 HIFD_LMNA:c.265C>T + NM_170707(LMNA):c.265C>T chr1 152920072 152920073 HIFD_LMNA:c.1585G>A + NM_170707(LMNA):c.1585G>A chr1 152919814 152919815 HIFD_LMNA:c.1411C>G + NM_170707(LMNA):c.1411C>G chr1 152898055 152898056 HIFD_LMNA:c.274C>T + NM_170707(LMNA):c.274C>T chr1 152919078 152919079 HIFD_LMNA:c.1159C>G + NM_170707(LMNA):c.1159C>G chr1 152919115 152919116 HIFD_LMNA:c.1196G>A + NM_170707(LMNA):c.1196G>A chr1 152919181 152919182 HIFD_LMNA:c.1262T>C + NM_170707(LMNA):c.1262T>C chr1 152920003 152920004 HIFD_LMNA:c.1516C>G + NM_170707(LMNA):c.1516C>G chr1 152921616 152921618 HIFD_LMNA:c.1964_1965insG + NM_170707(LMNA):c.1964_1965insG chr1 152920619 152920620 HIFD_LMNA:c.1711C>A + NM_005572(LMNA):c.1711C>A chr1 152920619 152920620 HIFD_LMNA:c.1711C>T + NM_005572(LMNA):c.1711C>T chr19 2386149 2386150 HIFD_LMNB2:c.644G>A - NM_032737(LMNB2):c.644G>A chr19 2395543 2395544 HIFD_LMNB2:c.205-6C>T - NM_032737(LMNB2):c.205-6C>T chr19 2385026 2385027 HIFD_LMNB2:c.1219G>A - NM_032737(LMNB2):c.1219G>A chr20 17425733 17429069 HIFD_BFSP1:c.736-1384_957-66del - NM_001195(BFSP1):c.736-1384_957-66del chr3 134651973 134651974 HIFD_BFSP2:c.859C>T + NM_003571(BFSP2):c.859C>T chr3 134650154 134650157 HIFD_BFSP2:c.697_699delGAA + NM_003571(BFSP2):c.697_699delGAA chr17 36276909 36276910 HIFD_KRT12:c.55C>T - NM_000223(KRT12):c.55C>T chr17 36276921 36276922 HIFD_KRT12:c.43C>T - NM_000223(KRT12):c.43C>T chr17 36937935 36937936 HIFD_KRT19:c.90T>C - NM_002276(KRT19):c.90C>T chr17 36938364 36938365 HIFD_KRT19:c.-340A>G - NM_002276(KRT19):c.-340A>G chr17 36938123 36938124 HIFD_KRT19:c.-99G>C - NM_002276(KRT19):c.-99G>C chr17 36935000 36935001 HIFD_KRT19:c.471C>T - NM_002276(KRT19):c.471T>C chr17 36937846 36937847 HIFD_KRT19:c.179G>C - NM_002276(KRT19):c.179C>G chr1 152922048 152922049 HIFD_LMNA:c.*79G>C + NM_170707(LMNA):c.*79G>C chr12 5928441 6102623 VWF_c.(?_1)_(8442_?)del - NM_000552.2(VWF):c.(?_1)_(8442_?)del chr12 6102568 6102569 VWF_c.55G>A - NM_000552.2(VWF):c.55G>A chr12 6100720 6100721 VWF_c.100C>G - NM_000552.2(VWF):c.100C>G chr12 6100681 6100682 VWF_c.139G>C - NM_000552.2(VWF):c.139G>C chr12 6100673 6100674 VWF_c.147C>A - NM_000552.2(VWF):c.147C>A chr12 6100649 6100650 VWF_c.171C>A - NM_000552.2(VWF):c.171C>A chr12 6100629 6100630 VWF_c.191delG - NM_000552.2(VWF):c.191delG chr12 6100608 6100609 VWF_c.212C>A - NM_000552.2(VWF):c.212C>A chr12 6090362 6090363 VWF_c.253T>C - NM_000552.2(VWF):c.253T>C chr12 6090355 6090356 VWF_c.260A>C - NM_000552.2(VWF):c.260A>C chr12 6090339 6090340 VWF_c.276delT - NM_000552.2(VWF):c.276delT chr12 6090338 6090340 VWF_c.276_277insT - NM_000552.2(VWF):c.276_277insT chr12 6089945 6089959 VWF_c.374_387del - NM_000552.2(VWF):c.374_387del chr12 6089947 6089948 VWF_c.385C>A - NM_000552.2(VWF):c.385C>A chr12 6089911 6089912 VWF_c.421G>A - NM_000552.2(VWF):c.421G>A chr12 6089911 6089912 VWF_c.421G>T - NM_000552.2(VWF):c.421G>T chr12 6089910 6089911 VWF_c.422A>G - NM_000552.2(VWF):c.422A>G chr12 6089883 6089884 VWF_c.449T>A - NM_000552.2(VWF):c.449T>A chr12 6089854 6089855 VWF_c.478G>T - NM_000552.2(VWF):c.478G>T chr12 6089835 6089836 VWF_c.497A>T - NM_000552.2(VWF):c.497A>T chr12 6074891 6074892 VWF_c.652C>T - NM_000552.2(VWF):c.652C>T chr12 6054969 6054970 VWF_c.666G>A - NM_000552.2(VWF):c.666G>A chr12 6054824 6054848 VWF_c.788_811del - NM_000552.2(VWF):c.788_811del chr12 6054818 6054819 VWF_c.817C>T - NM_000552.2(VWF):c.817C>T chr12 6054812 6054813 VWF_c.823T>A - NM_000552.2(VWF):c.823T>A chr12 6054812 6054813 VWF_c.823T>C - NM_000552.2(VWF):c.823T>C chr12 6053148 6053150 VWF_c.893_894insG - NM_000552.2(VWF):c.893_894insG chr12 6053072 6053073 VWF_c.970C>T - NM_000552.2(VWF):c.970C>T chr12 6053071 6053072 VWF_c.971G>A - NM_000552.2(VWF):c.971G>A chr12 6051795 6051796 VWF_c.1071C>A - NM_000552.2(VWF):c.1071C>A chr12 6051773 6051774 VWF_c.1093C>T - NM_000552.2(VWF):c.1093C>T chr12 6051755 6051756 VWF_c.1109+2T>C - NM_000552.2(VWF):c.1109+2T>C chr12 6050770 6050771 VWF_c.1110-1G>A - NM_000552.2(VWF):c.1110-1G>A chr12 6050762 6050763 VWF_c.1117C>T - NM_000552.2(VWF):c.1117C>T chr12 6050748 6050749 VWF_c.1131G>T - NM_000552.2(VWF):c.1131G>T chr12 6044643 6044645 VWF_c.1212_1213insAATCCC - NM_000552.2(VWF):c.1212_1213insAATCCC chr12 6044576 6044577 VWF_c.1280T>A - NM_000552.2(VWF):c.1280T>A chr12 6043778 6043796 VWF_c.1309_1326del - NM_000552.2(VWF):c.1309_1326del chr12 6037473 6037474 VWF_c.1534-3C>A - NM_000552.2(VWF):c.1534-3C>A chr12 6037421 6037422 VWF_c.1583A>G - NM_000552.2(VWF):c.1583A>G chr12 6037356 6037357 VWF_c.1648G>A - NM_000552.2(VWF):c.1648G>A chr12 6037347 6037349 VWF_c.1656_1657insT - NM_000552.2(VWF):c.1656_1657insT chr12 6037295 6037296 VWF_c.1709G>C - NM_000552.2(VWF):c.1709G>C chr12 6037276 6037277 VWF_c.1728G>T - NM_000552.2(VWF):c.1728G>T chr12 6036500 6036501 VWF_c.1730-2A>G - NM_000552.2(VWF):c.1730-2A>G chr12 6036398 6036399 VWF_c.1830C>A - NM_000552.2(VWF):c.1830C>A chr12 6036370 6036371 VWF_c.1858G>T - NM_000552.2(VWF):c.1858G>T chr12 6036359 6036360 VWF_c.1869C>G - NM_000552.2(VWF):c.1869C>G chr12 6036354 6036356 VWF_c.1873_1874insGCG - NM_000552.2(VWF):c.1873_1874insGCG chr12 6036306 6036307 VWF_c.1922C>T - NM_000552.2(VWF):c.1922C>T chr12 6036302 6036303 VWF_c.1926G>A - NM_000552.2(VWF):c.1926G>A chr12 6036298 6036299 VWF_c.1930G>T - NM_000552.2(VWF):c.1930G>T chr12 6032213 6032214 VWF_c.1946-4C>T - NM_000552.2(VWF):c.1946-4C>T chr12 6032136 6032140 VWF_c.2016_2019delCTCT - NM_000552.2(VWF):c.2016_2019delCTCT chr12 6032039 6032040 VWF_c.2116C>T - NM_000552.2(VWF):c.2116C>T chr12 6032030 6032032 VWF_c.2124_2125delCT - NM_000552.2(VWF):c.2124_2125delCT chr12 6031998 6031999 VWF_c.2157delA - NM_000552.2(VWF):c.2157delA chr12 6026210 6026211 VWF_c.2220G>A - NM_000552.2(VWF):c.2220G>A chr12 6026160 6026162 VWF_c.2269_2270delCT - NM_000552.2(VWF):c.2269_2270delCT chr12 6026152 6026153 VWF_c.2278C>T - NM_000552.2(VWF):c.2278C>T chr12 6026151 6026152 VWF_c.2279G>A - NM_000552.2(VWF):c.2279G>A chr12 6023875 6023876 VWF_c.2284A>G - NM_000552.2(VWF):c.2284A>G chr12 6023872 6023873 VWF_c.2287A>G - NM_000552.2(VWF):c.2287A>G chr12 6023846 6023847 VWF_c.2313G>T - NM_000552.2(VWF):c.2313G>T chr12 6023815 6023816 VWF_c.2344C>T - NM_000552.2(VWF):c.2344C>T chr12 6023814 6023815 VWF_c.2345G>A - NM_000552.2(VWF):c.2345G>A chr12 6023805 6023806 VWF_c.2354G>A - NM_000552.2(VWF):c.2354G>A chr12 6023800 6023801 VWF_c.2359G>A - NM_000552.2(VWF):c.2359G>A chr12 6023797 6023798 VWF_c.2362T>C - NM_000552.2(VWF):c.2362T>C chr12 6023796 6023797 VWF_c.2363G>A - NM_000552.2(VWF):c.2363G>A chr12 6023794 6023795 VWF_c.2365A>C - NM_000552.2(VWF):c.2365A>C chr12 6023787 6023788 VWF_c.2372C>T - NM_000552.2(VWF):c.2372C>T chr12 6023775 6023776 VWF_c.2384A>G - NM_000552.2(VWF):c.2384A>G chr12 6023761 6023762 VWF_c.2398A>G - NM_000552.2(VWF):c.2398A>G chr12 6023748 6023749 VWF_c.2411G>T - NM_000552.2(VWF):c.2411G>T chr12 6023724 6023725 VWF_c.2435C>T - NM_000552.2(VWF):c.2435C>T chr12 6023724 6023725 VWF_c.2435delC - NM_000552.2(VWF):c.2435delC chr12 6015814 6015918 VWF_c.(?_2443)_(2546_?)del - NM_000552.2(VWF):c.(?_2443)_(2546_?)del chr12 6015918 6015919 VWF_c.2443-1G>C - NM_000552.2(VWF):c.2443-1G>C chr12 6015914 6015915 VWF_c.2446C>T - NM_000552.2(VWF):c.2446C>T chr12 6015913 6015914 VWF_c.2447G>A - NM_000552.2(VWF):c.2447G>A chr12 6015909 6015910 VWF_c.2451T>A - NM_000552.2(VWF):c.2451T>A chr12 6015845 6015846 VWF_c.2515delG - NM_000552.2(VWF):c.2515delG chr12 6014239 6014240 VWF_c.2560C>T - NM_000552.2(VWF):c.2560C>T chr12 6014238 6014239 VWF_c.2561G>A - NM_000552.2(VWF):c.2561G>A chr12 6014226 6014227 VWF_c.2573G>T - NM_000552.2(VWF):c.2573G>T chr12 6014164 6014165 VWF_c.2635G>A - NM_000552.2(VWF):c.2635G>A chr12 6014158 6014159 VWF_c.2641delC - NM_000552.2(VWF):c.2641delC chr12 6014112 6014113 VWF_c.2685+2T>C - NM_000552.2(VWF):c.2685+2T>C chr12 6011005 6011006 VWF_c.2686-1G>C - NM_000552.2(VWF):c.2686-1G>C chr12 6011006 6011007 VWF_c.2686-2A>G - NM_000552.2(VWF):c.2686-2A>G chr12 6010955 6010957 VWF_c.2734_2735insT - NM_000552.2(VWF):c.2734_2735insT chr12 6010920 6010921 VWF_c.2770C>T - NM_000552.2(VWF):c.2770C>T chr12 6010919 6010920 VWF_c.2771G>A - NM_000552.2(VWF):c.2771G>A chr12 6010869 6010870 VWF_c.2820+1G>A - NM_000552.2(VWF):c.2820+1G>A chr12 6010869 6010870 VWF_c.2820+1G>C - NM_000552.2(VWF):c.2820+1G>C chr12 6005454 6005455 VWF_c.2986T>G - NM_000552.2(VWF):c.2986T>G chr12 6005368 6005369 VWF_c.3072delC - NM_000552.2(VWF):c.3072delC chr12 6005327 6005328 VWF_c.3108+5G>A - NM_000552.2(VWF):c.3108+5G>A chr12 6005069 6005070 VWF_c.3159G>T - NM_000552.2(VWF):c.3159G>T chr12 6005050 6005051 VWF_c.3178T>C - NM_000552.2(VWF):c.3178T>C chr12 6005016 6005017 VWF_c.3212G>T - NM_000552.2(VWF):c.3212G>T chr12 6003204 6003205 VWF_c.3232G>A - NM_000552.2(VWF):c.3232G>A chr12 6003155 6003156 VWF_c.3281T>C - NM_000552.2(VWF):c.3281T>C chr12 6003135 6003136 VWF_c.3301T>C - NM_000552.2(VWF):c.3301T>C chr12 6003133 6003134 VWF_c.3303C>G - NM_000552.2(VWF):c.3303C>G chr12 6003116 6003117 VWF_c.3320A>G - NM_000552.2(VWF):c.3320A>G chr12 6003104 6003105 VWF_c.3332G>A - NM_000552.2(VWF):c.3332G>A chr12 6003077 6003078 VWF_c.3359G>C - NM_000552.2(VWF):c.3359G>C chr12 6003056 6003057 VWF_c.3379+1G>A - NM_000552.2(VWF):c.3379+1G>A chr12 6002325 6002326 VWF_c.3380-1G>A - NM_000552.2(VWF):c.3380-1G>A chr12 6002318 6002320 VWF_c.3385_3386delAG - NM_000552.2(VWF):c.3385_3386delAG chr12 6002316 6002317 VWF_c.3388T>C - NM_000552.2(VWF):c.3388T>C chr12 6002316 6002317 VWF_c.3388T>G - NM_000552.2(VWF):c.3388T>G chr12 6002315 6002316 VWF_c.3389G>T - NM_000552.2(VWF):c.3389G>T chr12 6002274 6002275 VWF_c.3430T>G - NM_000552.2(VWF):c.3430T>G chr12 6002267 6002268 VWF_c.3437A>G - NM_000552.2(VWF):c.3437A>G chr12 6002259 6002260 VWF_c.3445T>C - NM_000552.2(VWF):c.3445T>C chr12 6002237 6002238 VWF_c.3467C>T - NM_000552.2(VWF):c.3467C>T chr12 6002234 6002235 VWF_c.3470G>T - NM_000552.2(VWF):c.3470G>T chr12 6002193 6002194 VWF_c.3511G>C - NM_000552.2(VWF):c.3511G>C chr12 6002165 6002166 VWF_c.3538+1G>A - NM_000552.2(VWF):c.3538+1G>A chr12 6002166 6002167 VWF_c.3538G>A - NM_000552.2(VWF):c.3538G>A chr12 5975428 6001462 VWF_c.(?_3539)_(6063_?)del - NM_000552.2(VWF):c.(?_3539)_(6063_?)del chr12 6001432 6001433 VWF_c.3568T>C - NM_000552.2(VWF):c.3568T>C chr12 6001414 6001415 VWF_c.3586T>C - NM_000552.2(VWF):c.3586T>C chr12 6001386 6001387 VWF_c.3614G>A - NM_000552.2(VWF):c.3614G>A chr12 6001386 6001387 VWF_c.3614G>T - NM_000552.2(VWF):c.3614G>T chr12 6001327 6001328 VWF_c.3673T>G - NM_000552.2(VWF):c.3673T>G chr12 5999165 5999166 VWF_c.3679T>C - NM_000552.2(VWF):c.3679T>C chr12 5999158 5999159 VWF_c.3686T>G - NM_000552.2(VWF):c.3686T>G chr12 5999152 5999153 VWF_c.3692A>C - NM_000552.2(VWF):c.3692A>C chr12 5999142 5999143 VWF_c.3702T>G - NM_000552.2(VWF):c.3702T>G chr12 5999047 5999048 VWF_c.3797C>A - NM_000552.2(VWF):c.3797C>A chr12 5999047 5999048 VWF_c.3797C>T - NM_000552.2(VWF):c.3797C>T chr12 5999042 5999043 VWF_c.3802C>A - NM_000552.2(VWF):c.3802C>A chr12 5999042 5999043 VWF_c.3802C>G - NM_000552.2(VWF):c.3802C>G chr12 5999030 5999031 VWF_c.3814T>C - NM_000552.2(VWF):c.3814T>C chr12 5999030 5999031 VWF_c.3814T>G - NM_000552.2(VWF):c.3814T>G chr12 5999029 5999031 VWF_c.3814_3815insATTTCTACT - NM_000552.2(VWF):c.3814_3815insATTTCTACT chr12 5999029 5999030 VWF_c.3815G>C - NM_000552.2(VWF):c.3815G>C chr12 5999017 5999018 VWF_c.3827T>C - NM_000552.2(VWF):c.3827T>C chr12 5999011 5999014 VWF_c.3831_3833delCCT - NM_000552.2(VWF):c.3831_3833delCCT chr12 5999009 5999010 VWF_c.3835G>A - NM_000552.2(VWF):c.3835G>A chr12 5998999 5999006 VWF_c.3839_3845dup - NM_000552.2(VWF):c.3839_3845dup chr12 5998999 5999000 VWF_c.3845T>G - NM_000552.2(VWF):c.3845T>G chr12 5998991 5998992 VWF_c.3853T>C - NM_000552.2(VWF):c.3853T>C chr12 5998990 5998991 VWF_c.3854C>T - NM_000552.2(VWF):c.3854C>T chr12 5998957 5998958 VWF_c.3887T>C - NM_000552.2(VWF):c.3887T>C chr12 5998939 5998940 VWF_c.3905A>G - NM_000552.2(VWF):c.3905A>G chr12 5998931 5998933 VWF_c.3912_3913insATG - NM_000552.2(VWF):c.3912_3913insATG chr12 5998928 5998929 VWF_c.3916C>T - NM_000552.2(VWF):c.3916C>T chr12 5998927 5998928 VWF_c.3917G>A - NM_000552.2(VWF):c.3917G>A chr12 5998927 5998928 VWF_c.3917G>T - NM_000552.2(VWF):c.3917G>T chr12 5998924 5998925 VWF_c.3920T>C - NM_000552.2(VWF):c.3920T>C chr12 5998922 5998923 VWF_c.3922C>T - NM_000552.2(VWF):c.3922C>T chr12 5998921 5998922 VWF_c.3923G>A - NM_000552.2(VWF):c.3923G>A chr12 5998921 5998922 VWF_c.3923G>C - NM_000552.2(VWF):c.3923G>C chr12 5998919 5998920 VWF_c.3925A>G - NM_000552.2(VWF):c.3925A>G chr12 5998915 5998916 VWF_c.3929C>T - NM_000552.2(VWF):c.3929C>T chr12 5998913 5998914 VWF_c.3931C>T - NM_000552.2(VWF):c.3931C>T chr12 5998905 5998906 VWF_c.3939G>C - NM_000552.2(VWF):c.3939G>C chr12 5998904 5998905 VWF_c.3940G>C - NM_000552.2(VWF):c.3940G>C chr12 5998904 5998905 VWF_c.3940G>T - NM_000552.2(VWF):c.3940G>T chr12 5998903 5998904 VWF_c.3941T>A - NM_000552.2(VWF):c.3941T>A chr12 5998901 5998902 VWF_c.3943C>T - NM_000552.2(VWF):c.3943C>T chr12 5998900 5998901 VWF_c.3944G>A - NM_000552.2(VWF):c.3944G>A chr12 5998900 5998901 VWF_c.3944G>T - NM_000552.2(VWF):c.3944G>T chr12 5998898 5998899 VWF_c.3946G>A - NM_000552.2(VWF):c.3946G>A chr12 5998874 5998875 VWF_c.3970G>A - NM_000552.2(VWF):c.3970G>A chr12 5998873 5998874 VWF_c.3971G>C - NM_000552.2(VWF):c.3971G>C chr12 5998834 5998835 VWF_c.4010C>T - NM_000552.2(VWF):c.4010C>T chr12 5998831 5998832 VWF_c.4013C>G - NM_000552.2(VWF):c.4013C>G chr12 5998823 5998824 VWF_c.4021C>T - NM_000552.2(VWF):c.4021C>T chr12 5998822 5998823 VWF_c.4022G>A - NM_000552.2(VWF):c.4022G>A chr12 5998822 5998823 VWF_c.4022G>C - NM_000552.2(VWF):c.4022G>C chr12 5998822 5998823 VWF_c.4022G>T - NM_000552.2(VWF):c.4022G>T chr12 5998820 5998821 VWF_c.4024C>T - NM_000552.2(VWF):c.4024C>T chr12 5998808 5998809 VWF_c.4036C>T - NM_000552.2(VWF):c.4036C>T chr12 5998686 5998791 VWF_c.4054_4158dup - NM_000552.2(VWF):c.4054_4158dup chr12 5998769 5998770 VWF_c.4075G>A - NM_000552.2(VWF):c.4075G>A chr12 5998762 5998763 VWF_c.4082T>C - NM_000552.2(VWF):c.4082T>C chr12 5998759 5998760 VWF_c.4085A>C - NM_000552.2(VWF):c.4085A>C chr12 5998751 5998753 VWF_c.4092_4093delAC - NM_000552.2(VWF):c.4092_4093delAC chr12 5998739 5998740 VWF_c.4105T>A - NM_000552.2(VWF):c.4105T>A chr12 5998729 5998730 VWF_c.4115T>G - NM_000552.2(VWF):c.4115T>G chr12 5998724 5998725 VWF_c.4120C>A - NM_000552.2(VWF):c.4120C>A chr12 5998724 5998725 VWF_c.4120C>T - NM_000552.2(VWF):c.4120C>T chr12 5998723 5998724 VWF_c.4121G>A - NM_000552.2(VWF):c.4121G>A chr12 5998723 5998724 VWF_c.4121G>T - NM_000552.2(VWF):c.4121G>T chr12 5998711 5998712 VWF_c.4133C>T - NM_000552.2(VWF):c.4133C>T chr12 5998709 5998710 VWF_c.4135C>T - NM_000552.2(VWF):c.4135C>T chr12 5998696 5998697 VWF_c.4148T>C - NM_000552.2(VWF):c.4148T>C chr12 5998696 5998697 VWF_c.4148T>G - NM_000552.2(VWF):c.4148T>G chr12 5998639 5998672 VWF_c.4173_4205del - NM_000552.2(VWF):c.4173_4205del chr12 5998649 5998650 VWF_c.4195C>T - NM_000552.2(VWF):c.4195C>T chr12 5998629 5998632 VWF_c.4213_4215delAAG - NM_000552.2(VWF):c.4213_4215delAAG chr12 5998606 5998607 VWF_c.4238C>T - NM_000552.2(VWF):c.4238C>T chr12 5998600 5998601 VWF_c.4244G>A - NM_000552.2(VWF):c.4244G>A chr12 5998597 5998598 VWF_c.4247T>A - NM_000552.2(VWF):c.4247T>A chr12 5998581 5998582 VWF_c.4263C>G - NM_000552.2(VWF):c.4263C>G chr12 5998571 5998572 VWF_c.4273A>T - NM_000552.2(VWF):c.4273A>T chr12 5998535 5998536 VWF_c.4309G>A - NM_000552.2(VWF):c.4309G>A chr12 5998505 5998506 VWF_c.4339G>C - NM_000552.2(VWF):c.4339G>C chr12 5998476 5998477 VWF_c.4368C>A - NM_000552.2(VWF):c.4368C>A chr12 5998476 5998477 VWF_c.4368C>G - NM_000552.2(VWF):c.4368C>G chr12 5998471 5998472 VWF_c.4373G>A - NM_000552.2(VWF):c.4373G>A chr12 5998466 5998467 VWF_c.4378C>G - NM_000552.2(VWF):c.4378C>G chr12 5998462 5998463 VWF_c.4382C>A - NM_000552.2(VWF):c.4382C>A chr12 5998462 5998463 VWF_c.4382C>T - NM_000552.2(VWF):c.4382C>T chr12 5998460 5998461 VWF_c.4384C>G - NM_000552.2(VWF):c.4384C>G chr12 5998445 5998446 VWF_c.4399C>T - NM_000552.2(VWF):c.4399C>T chr12 5998430 5998431 VWF_c.4414dupC - NM_000552.2(VWF):c.4414dupC chr12 5998428 5998430 VWF_c.4415_4416insG - NM_000552.2(VWF):c.4415_4416insG chr12 5998421 5998422 VWF_c.4423C>T - NM_000552.2(VWF):c.4423C>T chr12 5998391 5998392 VWF_c.4453delG - NM_000552.2(VWF):c.4453delG chr12 5998345 5998346 VWF_c.4499C>A - NM_000552.2(VWF):c.4499C>A chr12 5998336 5998337 VWF_c.4508T>A - NM_000552.2(VWF):c.4508T>A chr12 5998336 5998337 VWF_c.4508T>C - NM_000552.2(VWF):c.4508T>C chr12 5998331 5998332 VWF_c.4513G>C - NM_000552.2(VWF):c.4513G>C chr12 5998330 5998331 VWF_c.4514G>A - NM_000552.2(VWF):c.4514G>A chr12 5998327 5998328 VWF_c.4517C>T - NM_000552.2(VWF):c.4517C>T chr12 5998303 5998304 VWF_c.4541T>G - NM_000552.2(VWF):c.4541T>G chr12 5998292 5998293 VWF_c.4552A>G - NM_000552.2(VWF):c.4552A>G chr12 5998274 5998275 VWF_c.4570delG - NM_000552.2(VWF):c.4570delG chr12 5998228 5998229 VWF_c.4616T>A - NM_000552.2(VWF):c.4616T>A chr12 5998225 5998226 VWF_c.4619T>C - NM_000552.2(VWF):c.4619T>C chr12 5998218 5998219 VWF_c.4626C>G - NM_000552.2(VWF):c.4626C>G chr12 5998216 5998217 VWF_c.4628C>T - NM_000552.2(VWF):c.4628C>T chr12 5998209 5998210 VWF_c.4635delG - NM_000552.2(VWF):c.4635delG chr12 5998199 5998208 VWF_c.4637_4645del - NM_000552.2(VWF):c.4637_4645del chr12 5998177 5998178 VWF_c.4667A>G - NM_000552.2(VWF):c.4667A>G chr12 5998159 5998160 VWF_c.4685T>C - NM_000552.2(VWF):c.4685T>C chr12 5998148 5998149 VWF_c.4696C>T - NM_000552.2(VWF):c.4696C>T chr12 5998109 5998110 VWF_c.4735G>A - NM_000552.2(VWF):c.4735G>A chr12 5998106 5998107 VWF_c.4738C>G - NM_000552.2(VWF):c.4738C>G chr12 5998105 5998106 VWF_c.4739T>C - NM_000552.2(VWF):c.4739T>C chr12 5998097 5998098 VWF_c.4747C>T - NM_000552.2(VWF):c.4747C>T chr12 5998093 5998094 VWF_c.4751A>G - NM_000552.2(VWF):c.4751A>G chr12 5998055 5998056 VWF_c.4789C>G - NM_000552.2(VWF):c.4789C>G chr12 5998055 5998056 VWF_c.4789C>T - NM_000552.2(VWF):c.4789C>T chr12 5998054 5998055 VWF_c.4790G>A - NM_000552.2(VWF):c.4790G>A chr12 5998054 5998055 VWF_c.4790G>T - NM_000552.2(VWF):c.4790G>T chr12 5998034 5998035 VWF_c.4810G>T - NM_000552.2(VWF):c.4810G>T chr12 5998024 5998025 VWF_c.4820T>A - NM_000552.2(VWF):c.4820T>A chr12 5998019 5998020 VWF_c.4825G>A - NM_000552.2(VWF):c.4825G>A chr12 5998007 5998008 VWF_c.4837T>C - NM_000552.2(VWF):c.4837T>C chr12 5998003 5998004 VWF_c.4841A>G - NM_000552.2(VWF):c.4841A>G chr12 5997964 5997965 VWF_c.4880C>A - NM_000552.2(VWF):c.4880C>A chr12 5997961 5997962 VWF_c.4883T>C - NM_000552.2(VWF):c.4883T>C chr12 5997959 5997960 VWF_c.4885G>A - NM_000552.2(VWF):c.4885G>A chr12 5997958 5997959 VWF_c.4886delG - NM_000552.2(VWF):c.4886delG chr12 5997955 5997956 VWF_c.4889T>A - NM_000552.2(VWF):c.4889T>A chr12 5997932 5997933 VWF_c.4912G>A - NM_000552.2(VWF):c.4912G>A chr12 5997928 5997929 VWF_c.4916T>C - NM_000552.2(VWF):c.4916T>C chr12 5997902 5997903 VWF_c.4942C>T - NM_000552.2(VWF):c.4942C>T chr12 5997900 5997901 VWF_c.4944delT - NM_000552.2(VWF):c.4944delT chr12 5997875 5997876 VWF_c.4969C>A - NM_000552.2(VWF):c.4969C>A chr12 5997874 5997875 VWF_c.4970T>A - NM_000552.2(VWF):c.4970T>A chr12 5997873 5997874 VWF_c.4971dupC - NM_000552.2(VWF):c.4971dupC chr12 5997869 5997870 VWF_c.4975C>T - NM_000552.2(VWF):c.4975C>T chr12 5997850 5997851 VWF_c.4994T>A - NM_000552.2(VWF):c.4994T>A chr12 5997840 5997841 VWF_c.5004G>T - NM_000552.2(VWF):c.5004G>T chr12 5997830 5997831 VWF_c.5014G>A - NM_000552.2(VWF):c.5014G>A chr12 5997820 5997822 VWF_c.5023_5024delCTinsTA - NM_000552.2(VWF):c.5023_5024delCTinsTA chr12 5997790 5997791 VWF_c.5053+1G>A - NM_000552.2(VWF):c.5053+1G>A chr12 5997790 5997791 VWF_c.5053+1G>T - NM_000552.2(VWF):c.5053+1G>T chr12 5996170 5996171 VWF_c.5170+10C>T - NM_000552.2(VWF):c.5170+10C>T chr12 5996072 5996074 VWF_c.5180_5181insTT - NM_000552.2(VWF):c.5180_5181insTT chr12 5996062 5996063 VWF_c.5191T>A - NM_000552.2(VWF):c.5191T>A chr12 5995975 5995976 VWF_c.5278G>A - NM_000552.2(VWF):c.5278G>A chr12 5995649 5995650 VWF_c.5321T>C - NM_000552.2(VWF):c.5321T>C chr12 5995635 5995636 VWF_c.5335C>T - NM_000552.2(VWF):c.5335C>T chr12 5995590 5995591 VWF_c.5380A>G - NM_000552.2(VWF):c.5380A>G chr12 5995517 5995518 VWF_c.5453A>G - NM_000552.2(VWF):c.5453A>G chr12 5993062 5993063 VWF_c.5465T>G - NM_000552.2(VWF):c.5465T>G chr12 5993056 5993057 VWF_c.5471C>A - NM_000552.2(VWF):c.5471C>A chr12 5992982 5992983 VWF_c.5545G>A - NM_000552.2(VWF):c.5545G>A chr12 5992970 5992971 VWF_c.5557C>T - NM_000552.2(VWF):c.5557C>T chr12 5975550 5975551 VWF_c.5941G>T - NM_000552.2(VWF):c.5941G>T chr12 5973915 5973916 VWF_c.6182delT - NM_000552.2(VWF):c.6182delT chr12 5973910 5973911 VWF_c.6187C>T - NM_000552.2(VWF):c.6187C>T chr12 5973575 5973576 VWF_c.6311C>T - NM_000552.2(VWF):c.6311C>T chr12 5973501 5973502 VWF_c.6385G>T - NM_000552.2(VWF):c.6385G>T chr12 5973453 5973454 VWF_c.6433C>T - NM_000552.2(VWF):c.6433C>T chr12 5973366 5973367 VWF_c.6520T>G - NM_000552.2(VWF):c.6520T>G chr12 5973350 5973351 VWF_c.6536C>T - NM_000552.2(VWF):c.6536C>T chr12 5973332 5973333 VWF_c.6554G>A - NM_000552.2(VWF):c.6554G>A chr12 5971464 5971465 VWF_c.6599-20A>T - NM_000552.2(VWF):c.6599-20A>T chr12 5971423 5971424 VWF_c.6620T>C - NM_000552.2(VWF):c.6620T>C chr12 5971346 5971347 VWF_c.6697G>C - NM_000552.2(VWF):c.6697G>C chr12 5971274 5971275 VWF_c.6769T>A - NM_000552.2(VWF):c.6769T>A chr12 5971244 5971245 VWF_c.6798+1G>T - NM_000552.2(VWF):c.6798+1G>T chr12 5965031 5965032 VWF_c.6859C>T - NM_000552.2(VWF):c.6859C>T chr12 5964536 5964537 VWF_c.6911G>A - NM_000552.2(VWF):c.6911G>A chr12 5964509 5964510 VWF_c.6938G>A - NM_000552.2(VWF):c.6938G>A chr12 5962681 5962682 VWF_c.6977-1G>C - NM_000552.2(VWF):c.6977-1G>C chr12 5962639 5962640 VWF_c.7018T>C - NM_000552.2(VWF):c.7018T>C chr12 5962629 5962630 VWF_c.7028G>T - NM_000552.2(VWF):c.7028G>T chr12 5961414 5961415 VWF_c.7085G>T - NM_000552.2(VWF):c.7085G>T chr12 5961374 5961375 VWF_c.7125dupC - NM_000552.2(VWF):c.7125dupC chr12 5961369 5961370 VWF_c.7130dupC - NM_000552.2(VWF):c.7130dupC chr12 5961364 5961365 VWF_c.7135C>T - NM_000552.2(VWF):c.7135C>T chr12 5961362 5961363 VWF_c.7137dupT - NM_000552.2(VWF):c.7137dupT chr12 5961323 5961324 VWF_c.7176T>G - NM_000552.2(VWF):c.7176T>G chr12 5955537 5955687 VWF_c.(?_7288)_(7437_?)del - NM_000552.2(VWF):c.(?_7288)_(7437_?)del chr12 5955679 5955681 VWF_c.7294_7295delGT - NM_000552.2(VWF):c.7294_7295delGT chr12 5955674 5955675 VWF_c.7300C>T - NM_000552.2(VWF):c.7300C>T chr12 5955653 5955654 VWF_c.7321G>T - NM_000552.2(VWF):c.7321G>T chr12 5955584 5955585 VWF_c.7390C>T - NM_000552.2(VWF):c.7390C>T chr12 5955569 5955570 VWF_c.7405T>C - NM_000552.2(VWF):c.7405T>C chr12 5955566 5955567 VWF_c.7408C>T - NM_000552.2(VWF):c.7408C>T chr12 5955544 5955545 VWF_c.7430G>A - NM_000552.2(VWF):c.7430G>A chr12 5955544 5955545 VWF_c.7430G>C - NM_000552.2(VWF):c.7430G>C chr12 5955536 5955537 VWF_c.7437+1G>A - NM_000552.2(VWF):c.7437+1G>A chr12 5955537 5955538 VWF_c.7437G>A - NM_000552.2(VWF):c.7437G>A chr12 5951123 5951125 VWF_c.7449_7450insA - NM_000552.2(VWF):c.7449_7450insA chr12 5951084 5951085 VWF_c.7489T>C - NM_000552.2(VWF):c.7489T>C chr12 5948814 5948815 VWF_c.7552G>A - NM_000552.2(VWF):c.7552G>A chr12 5948807 5948808 VWF_c.7559A>C - NM_000552.2(VWF):c.7559A>C chr12 5948767 5948768 VWF_c.7599T>A - NM_000552.2(VWF):c.7599T>A chr12 5948763 5948764 VWF_c.7603C>T - NM_000552.2(VWF):c.7603C>T chr12 5948736 5948737 VWF_c.7630C>T - NM_000552.2(VWF):c.7630C>T chr12 5948730 5948731 VWF_c.7636A>T - NM_000552.2(VWF):c.7636A>T chr12 5948692 5948693 VWF_c.7674dupC - NM_000552.2(VWF):c.7674dupC chr12 5948683 5948684 VWF_c.7683delT - NM_000552.2(VWF):c.7683delT chr12 5948630 5948631 VWF_c.7729+7C>T - NM_000552.2(VWF):c.7729+7C>T chr12 5932968 5932969 VWF_c.7940C>T - NM_000552.2(VWF):c.7940C>T chr12 5931920 5931921 VWF_c.8012G>A - NM_000552.2(VWF):c.8012G>A chr12 5931854 5931855 VWF_c.8078G>A - NM_000552.2(VWF):c.8078G>A chr12 5931267 5931268 VWF_c.8155+3G>T - NM_000552.2(VWF):c.8155+3G>T chr12 5929301 5929302 VWF_c.8164C>G - NM_000552.2(VWF):c.8164C>G chr12 5929271 5929279 VWF_c.8187_8194del - NM_000552.2(VWF):c.8187_8194del chr12 5929249 5929250 VWF_c.8216G>A - NM_000552.2(VWF):c.8216G>A chr12 5929216 5929225 VWF_c.8241_8249del - NM_000552.2(VWF):c.8241_8249del chr12 5928621 5928622 VWF_c.8262T>G - NM_000552.2(VWF):c.8262T>G chr12 5928572 5928573 VWF_c.8311T>A - NM_000552.2(VWF):c.8311T>A chr12 5928571 5928572 VWF_c.8312G>A - NM_000552.2(VWF):c.8312G>A chr12 5928567 5928568 VWF_c.8316delC - NM_000552.2(VWF):c.8316delC chr12 5928566 5928567 VWF_c.8317T>C - NM_000552.2(VWF):c.8317T>C chr12 5928565 5928566 VWF_c.8318G>C - NM_000552.2(VWF):c.8318G>C chr12 5928556 5928557 VWF_c.8327C>T - NM_000552.2(VWF):c.8327C>T chr12 5928542 5928543 VWF_c.8341C>T - NM_000552.2(VWF):c.8341C>T chr12 5928481 5928482 VWF_c.8402C>A - NM_000552.2(VWF):c.8402C>A chr12 5928472 5928473 VWF_c.8411G>A - NM_000552.2(VWF):c.8411G>A chr12 5928470 5928472 VWF_c.8412_8413insTCCCC - NM_000552.2(VWF):c.8412_8413insTCCCC chr12 5928467 5928468 VWF_c.8416T>C - NM_000552.2(VWF):c.8416T>C chr12 6104132 6104145 VWF_c.-1522_-1510delCATTGTTTCCTTT - NM_000552.2(VWF):c.-1522_-1510delCATTGTTTCCTTT chr12 6104287 6104288 VWF_c.-1665G>C - NM_000552.2(VWF):c.-1665G>C chr12 6104495 6104496 VWF_c.-1873A>G - NM_000552.2(VWF):c.-1873A>G chr12 6104508 6104509 VWF_c.-1886A>C - NM_000552.2(VWF):c.-1886A>C chr12 6104518 6104519 VWF_c.-1896C>T - NM_000552.2(VWF):c.-1896C>T chr12 6104950 6104951 VWF_c.-2328T>G - NM_000552.2(VWF):c.-2328T>G chr12 6105109 6105110 VWF_c.-2487G>A - NM_000552.2(VWF):c.-2487G>A chr12 6105157 6105158 VWF_c.-2535G>A - NM_000552.2(VWF):c.-2535G>A chr12 6105237 6105238 VWF_c.-2615A>G - NM_000552.2(VWF):c.-2615A>G chr12 6105263 6105264 VWF_c.-2641G>A - NM_000552.2(VWF):c.-2641G>A chr12 6105337 6105338 VWF_c.-2715G>A - NM_000552.2(VWF):c.-2715G>A chr12 6105353 6105354 VWF_c.-2731C>T - NM_000552.2(VWF):c.-2731C>T chrX 152511551 152511576 X-ALD_c.1-17_8del + ABCD1:c.1-17_8del chrX 152511568 152511569 X-ALD_c.1A>G + ABCD1:c.1A>G chrX 152511569 152511570 X-ALD_c.2T>A + ABCD1:c.2T>A chrX 152511570 152511571 X-ALD_c.3G>A + ABCD1:c.3G>A chrX 152511597 152511598 X-ALD_c.30G>A + ABCD1:c.30G>A chrX 152511613 152511614 X-ALD_c.[46A>T(+)706C>T] + ABCD1:c.[..46A>T..] chrX 152512273 152512274 X-ALD_c.[46A>T(+)706C>T] + ABCD1:c.[..706C>T..] chrX 152511620 152511622 X-ALD_c.53_54insGCAC + ABCD1:c.53_54insGCAC chrX 152511623 152511624 X-ALD_c.56delC + ABCD1:c.56delC chrX 152511664 152511668 X-ALD_c.97_100del + ABCD1:c.97_100del chrX 152511669 152511670 X-ALD_c.102delinsAT + ABCD1:c.102delinsAT chrX 152511679 152511680 X-ALD_c.112C>T + ABCD1:c.112C>T chrX 152511682 152511699 X-ALD_c.115_131delins3 + ABCD1:c.115_131delins3 chrX 152511686 152511715 X-ALD_c.119_147del + ABCD1:c.119_147del chrX 152511692 152511694 X-ALD_c.125_126insC + ABCD1:c.125_126insC chrX 152511705 152511707 X-ALD_c.138_139insT + ABCD1:c.138_139insT chrX 152511706 152511707 X-ALD_c.139C>T + ABCD1:c.139C>T chrX 152511712 152511714 X-ALD_c.145_146ins4 + ABCD1:c.145_146ins4 chrX 152511721 152511722 X-ALD_c.154G>T + ABCD1:c.154G>T chrX 152511766 152511767 X-ALD_c.[199A>G(+)1_1488del] + ABCD1:c.[..199A>G..] chrX 152511568 152523552 X-ALD_c.[199A>G(+)1_1488del] + ABCD1:c.[..1_1488del..] chrX 152511787 152511788 X-ALD_c.220C>T + ABCD1:c.220C>T chrX 152511792 152511810 X-ALD_c.225_242del + ABCD1:c.225_242del chrX 152511799 152511808 X-ALD_c.232_240del + ABCD1:c.232_240del chrX 152511801 152511810 X-ALD_c.234_242delCCTGCGGCT + ABCD1:c.234_242delCCTGCGGCT chrX 152511807 152511809 X-ALD_c.240_241ins6 + ABCD1:c.240_241ins6 chrX 152511807 152511809 X-ALD_c.240_241ins9 + ABCD1:c.240_241ins9 chrX 152511810 152511812 X-ALD_c.243_244ins9 + ABCD1:c.243_244ins9 chrX 152511818 152511819 X-ALD_c.251C>T + ABCD1:c.251C>T chrX 152511820 152511822 X-ALD_c.253_254insC + ABCD1:c.253_254insC chrX 152511831 152511832 X-ALD_c.264C>G + ABCD1:c.264C>G chrX 152511835 152511836 X-ALD_c.268G>A + ABCD1:c.268G>A chrX 152511841 152511879 X-ALD_c.274_311del + ABCD1:c.274_311del chrX 152511844 152511845 X-ALD_c.277delC + ABCD1:c.277delC chrX 152511854 152511856 X-ALD_c.287_288insCC + ABCD1:c.287_288insCC chrX 152511857 152511858 X-ALD_c.290A>C + ABCD1:c.290A>C chrX 152511859 152511860 X-ALD_c.292T>C + ABCD1:c.292T>C chrX 152511860 152511861 X-ALD_c.293C>T + ABCD1:c.293C>T chrX 152511860 152511861 X-ALD_c.293C>G + ABCD1:c.293C>G chrX 152511861 152511863 X-ALD_c.294_295insC + ABCD1:c.294_295insC chrX 152511863 152511864 X-ALD_c.296C>A + ABCD1:c.296C>A chrX 152511865 152511866 X-ALD_c.298delG + ABCD1:c.298delG chrX 152511868 152511869 X-ALD_c.301T>A + ABCD1:c.301T>A chrX 152511872 152511873 X-ALD_c.305T>A + ABCD1:c.305T>A chrX 152511876 152511877 X-ALD_c.309C>G + ABCD1:c.309C>G chrX 152511877 152511878 X-ALD_c.310C>T + ABCD1:c.310C>T chrX 152511878 152511879 X-ALD_c.311G>A + ABCD1:c.311G>A chrX 152511878 152511879 X-ALD_c.311G>T + ABCD1:c.311G>T chrX 152511880 152511881 X-ALD_c.313A>C + ABCD1:c.313A>C chrX 152511881 152511882 X-ALD_c.314C>T + ABCD1:c.314C>T chrX 152511887 152511888 X-ALD_c.320T>C + ABCD1:c.320T>C chrX 152511889 152511890 X-ALD_c.322T>G + ABCD1:c.322T>G chrX 152511890 152511891 X-ALD_c.323C>A + ABCD1:c.323C>A chrX 152511890 152511891 X-ALD_c.323C>T + ABCD1:c.323C>T chrX 152511890 152511891 X-ALD_c.323C>G + ABCD1:c.323C>G chrX 152511904 152511905 X-ALD_c.337delC + ABCD1:c.337delC chrX 152511904 152511905 X-ALD_c.337C>T + ABCD1:c.337C>T chrX 152511905 152511906 X-ALD_c.338G>C + ABCD1:c.338G>C chrX 152511908 152511909 X-ALD_c.341T>C + ABCD1:c.341T>C chrX 152511913 152511914 X-ALD_c.346G>A + ABCD1:c.346G>A chrX 152511914 152511915 X-ALD_c.347G>A + ABCD1:c.347G>A chrX 152511919 152511921 X-ALD_c.352_353delCT + ABCD1:c.352_353delCT chrX 152511923 152511924 X-ALD_c.356C>A + ABCD1:c.356C>A chrX 152511926 152511927 X-ALD_c.359G>C + ABCD1:c.359G>C chrX 152511952 152511954 X-ALD_c.385_386insT + ABCD1:c.385_386insT chrX 152511954 152511955 X-ALD_c.387delT + ABCD1:c.387delT chrX 152511963 152511964 X-ALD_c.396G>A + ABCD1:c.396G>A chrX 152511964 152511965 X-ALD_c.397C>T + ABCD1:c.397C>T chrX 152511968 152511973 X-ALD_c.401_405delinsAGCATT + ABCD1:c.401_405delinsAGCATT chrX 152511977 152511978 X-ALD_c.410G>A + ABCD1:c.410G>A chrX 152511978 152511979 X-ALD_c.411G>A + ABCD1:c.411G>A chrX 152511979 152511991 X-ALD_c.412_423del + ABCD1:c.412_423del chrX 152511979 152511982 X-ALD_c.412_414delCTC + ABCD1:c.412_414delCTC chrX 152511988 152511989 X-ALD_c.421G>A + ABCD1:c.421G>A chrX 152511994 152511995 X-ALD_c.427C>T + ABCD1:c.427C>T chrX 152511995 152511996 X-ALD_c.428C>A + ABCD1:c.428C>A chrX 152511995 152511996 X-ALD_c.428C>T + ABCD1:c.428C>T chrX 152511999 152512014 X-ALD_c.432_446delins3 + ABCD1:c.432_446delins3 chrX 152512009 152512010 X-ALD_c.442A>T + ABCD1:c.442A>T chrX 152512010 152512011 X-ALD_c.443A>G + ABCD1:c.443A>G chrX 152512013 152512014 X-ALD_c.446G>A + ABCD1:c.446G>A chrX 152512021 152512022 X-ALD_c.454C>A + ABCD1:c.454C>A chrX 152512021 152512022 X-ALD_c.454C>T + ABCD1:c.454C>T chrX 152512022 152512023 X-ALD_c.455G>C + ABCD1:c.455G>C chrX 152512022 152512023 X-ALD_c.455G>T + ABCD1:c.455G>T chrX 152512028 152512029 X-ALD_c.461T>C + ABCD1:c.461T>C chrX 152512029 152512049 X-ALD_c.462_481del + ABCD1:c.462_481del chrX 152512036 152512037 X-ALD_c.469C>T + ABCD1:c.469C>T chrX 152512043 152512067 X-ALD_c.476_499del + ABCD1:c.476_499del chrX 152512046 152512047 X-ALD_c.479T>C + ABCD1:c.479T>C chrX 152512048 152512049 X-ALD_c.481T>C + ABCD1:c.481T>C chrX 152512049 152512050 X-ALD_c.482C>A + ABCD1:c.482C>A chrX 152512055 152512056 X-ALD_c.488G>A + ABCD1:c.488G>A chrX 152512055 152512056 X-ALD_c.488G>C + ABCD1:c.488G>C chrX 152512061 152512062 X-ALD_c.494delG + ABCD1:c.494delG chrX 152512063 152512065 X-ALD_c.496_497insG + ABCD1:c.496_497insG chrX 152512081 152512082 X-ALD_c.514delC + ABCD1:c.514delC chrX 152512082 152512084 X-ALD_c.515_516insC + ABCD1:c.515_516insC chrX 152512085 152512086 X-ALD_c.518T>C + ABCD1:c.518T>C chrX 152512087 152512088 X-ALD_c.520T>C + ABCD1:c.520T>C chrX 152512087 152512088 X-ALD_c.520T>G + ABCD1:c.520T>G chrX 152512088 152512089 X-ALD_c.521A>G + ABCD1:c.521A>G chrX 152512088 152512089 X-ALD_c.521A>C + ABCD1:c.521A>C chrX 152512089 152512092 X-ALD_c.522_524delCTT + ABCD1:c.522_524delCTT chrX 152512096 152512097 X-ALD_c.529C>T + ABCD1:c.529C>T chrX 152512108 152512110 X-ALD_c.541_542delTA + ABCD1:c.541_542delTA chrX 152512109 152512110 X-ALD_c.542A>G + ABCD1:c.542A>G chrX 152512110 152512111 X-ALD_c.543C>A + ABCD1:c.543C>A chrX 152512111 152512113 X-ALD_c.544_545insCTACTACC + ABCD1:c.544_545insCTACTACC chrX 152512112 152512113 X-ALD_c.545G>C + ABCD1:c.545G>C chrX 152512132 152512133 X-ALD_c.565C>T + ABCD1:c.565C>T chrX 152512133 152512134 X-ALD_c.566G>A + ABCD1:c.566G>A chrX 152512136 152512137 X-ALD_c.569T>C + ABCD1:c.569T>C chrX 152512147 152512148 X-ALD_c.580G>A + ABCD1:c.580G>A chrX 152512147 152512148 X-ALD_c.580G>C + ABCD1:c.580G>C chrX 152512150 152512151 X-ALD_c.583C>T + ABCD1:c.583C>T chrX 152512155 152512157 X-ALD_c.588_589delTC + ABCD1:c.588_589delTC chrX 152512158 152512160 X-ALD_c.591_592insT + ABCD1:c.591_592insT chrX 152512160 152512161 X-ALD_c.593C>A + ABCD1:c.593C>A chrX 152512160 152512161 X-ALD_c.593C>G + ABCD1:c.593C>G chrX 152512165 152512166 X-ALD_c.598G>A + ABCD1:c.598G>A chrX 152512166 152512167 X-ALD_c.599A>T + ABCD1:c.599A>T chrX 152512181 152512182 X-ALD_c.614C>A + ABCD1:c.614C>A chrX 152512185 152512198 X-ALD_c.618_630del + ABCD1:c.618_630del chrX 152512186 152512195 X-ALD_c.619_627del + ABCD1:c.619_627del chrX 152512188 152522705 X-ALD_c.621_1284del + ABCD1:c.621_1284del chrX 152512189 152512191 X-ALD_c.622_623insCGGCCTCTG + ABCD1:c.622_623insCGGCCTCTG chrX 152512199 152512200 X-ALD_c.632T>C + ABCD1:c.632T>C chrX 152512203 152512204 X-ALD_c.636C>G + ABCD1:c.636C>G chrX 152512205 152512206 X-ALD_c.638C>G + ABCD1:c.638C>G chrX 152512207 152512208 X-ALD_c.640A>G + ABCD1:c.640A>G chrX 152512210 152512211 X-ALD_c.643delC + ABCD1:c.643delC chrX 152512216 152512217 X-ALD_c.649A>G + ABCD1:c.649A>G chrX 152512219 152512220 X-ALD_c.652C>A + ABCD1:c.652C>A chrX 152512226 152512227 X-ALD_c.659T>C + ABCD1:c.659T>C chrX 152512229 152512230 X-ALD_c.662A>G + ABCD1:c.662A>G chrX 152512238 152512239 X-ALD_c.671T>G + ABCD1:c.671T>G chrX 152512244 152512245 X-ALD_c.677delC + ABCD1:c.677delC chrX 152512251 152512253 X-ALD_c.684_685insTACAC + ABCD1:c.684_685insTACAC chrX 152512253 152512254 X-ALD_c.686T>C + ABCD1:c.686T>C chrX 152512260 152512262 X-ALD_c.693_694delGG + ABCD1:c.693_694delGG chrX 152512262 152512264 X-ALD_c.695_696insG + ABCD1:c.695_696insG chrX 152512264 152515558 X-ALD_c.697_925del + ABCD1:c.697_925del chrX 152512273 152512277 X-ALD_c.706_709delCGTG + ABCD1:c.706_709delCGTG chrX 152512274 152512275 X-ALD_c.[707G>A(+)1415_1416delAG] + ABCD1:c.[..707G>A..] chrX 152523478 152523480 X-ALD_c.[707G>A(+)1415_1416delAG] + ABCD1:c.[..1415_1416delAG..] chrX 152512274 152512275 X-ALD_c.[707G>A(+)1534G>A] + ABCD1:c.[..707G>A..] chrX 152526437 152526438 X-ALD_c.[707G>A(+)1534G>A] + ABCD1:c.[..1534G>A..] chrX 152512293 152512294 X-ALD_c.726G>A + ABCD1:c.726G>A chrX 152512297 152512299 X-ALD_c.730_731delinsGAGA + ABCD1:c.730_731delinsGAGA chrX 152512306 152512307 X-ALD_c.739delG + ABCD1:c.739delG chrX 152512306 152512308 X-ALD_c.739_740insGCCATCG + ABCD1:c.739_740insGCCATCG chrX 152512315 152512327 X-ALD_c.748_759del + ABCD1:c.748_759del chrX 152512316 152512319 X-ALD_c.749_751delTGG + ABCD1:c.749_751delTGG chrX 152512324 152512333 X-ALD_c.757_765delins4 + ABCD1:c.757_765delins4 chrX 152512324 152512325 X-ALD_c.[757C>G(+)1817C>T] + ABCD1:c.[..757C>G..] chrX 152529323 152529324 X-ALD_c.[757C>G(+)1817C>T] + ABCD1:c.[..1817C>T..] chrX 152512327 152512328 X-ALD_c.760A>G + ABCD1:c.760A>G chrX 152512327 152512328 X-ALD_c.760A>C + ABCD1:c.760A>C chrX 152512328 152512329 X-ALD_c.761C>A + ABCD1:c.761C>A chrX 152512328 152512329 X-ALD_c.761C>T + ABCD1:c.761C>T chrX 152512340 152512341 X-ALD_c.773T>C + ABCD1:c.773T>C chrX 152512342 152512343 X-ALD_c.775C>T + ABCD1:c.775C>T chrX 152512352 152512359 X-ALD_c.785_791del + ABCD1:c.785_791del chrX 152512355 152512356 X-ALD_c.788C>T + ABCD1:c.788C>T chrX 152512363 152512364 X-ALD_c.796delG + ABCD1:c.796delG chrX 152512363 152512364 X-ALD_c.796G>A + ABCD1:c.796G>A chrX 152512364 152512365 X-ALD_c.797G>A + ABCD1:c.797G>A chrX 152512366 152512367 X-ALD_c.799G>A + ABCD1:c.799G>A chrX 152512366 152512367 X-ALD_c.799G>T + ABCD1:c.799G>T chrX 152512378 152512379 X-ALD_c.811G>A + ABCD1:c.811G>A chrX 152512382 152512385 X-ALD_c.815_817delAGG + ABCD1:c.815_817delAGG chrX 152512385 152512386 X-ALD_c.818C>A + ABCD1:c.818C>A chrX 152512387 152512388 X-ALD_c.[820C>T(+)838C>T] + ABCD1:c.[..820C>T..] chrX 152512405 152512406 X-ALD_c.[820C>T(+)838C>T] + ABCD1:c.[..838C>T..] chrX 152512393 152512394 X-ALD_c.826A>G + ABCD1:c.826A>G chrX 152512395 152512397 X-ALD_c.828_829insAAT + ABCD1:c.828_829insAAT chrX 152512396 152512397 X-ALD_c.829G>A + ABCD1:c.829G>A chrX 152512396 152512397 X-ALD_c.829G>C + ABCD1:c.829G>C chrX 152512396 152512397 X-ALD_c.829G>T + ABCD1:c.829G>T chrX 152512397 152512398 X-ALD_c.830G>A + ABCD1:c.830G>A chrX 152512399 152512400 X-ALD_c.832G>T + ABCD1:c.832G>T chrX 152512403 152512404 X-ALD_c.836T>C + ABCD1:c.836T>C chrX 152512405 152512406 X-ALD_c.838C>T + ABCD1:c.838C>T chrX 152512406 152512407 X-ALD_c.839G>T + ABCD1:c.839G>T chrX 152512414 152512415 X-ALD_c.847C>G + ABCD1:c.847C>G chrX 152512418 152512419 X-ALD_c.851C>A + ABCD1:c.851C>A chrX 152512419 152512421 X-ALD_c.852_853insACTC + ABCD1:c.852_853insACTC chrX 152512419 152512421 X-ALD_c.852_853insG + ABCD1:c.852_853insG chrX 152512421 152512422 X-ALD_c.854G>C + ABCD1:c.854G>C chrX 152512436 152512437 X-ALD_c.869C>A + ABCD1:c.869C>A chrX 152512438 152512441 X-ALD_c.871_873delGAG + ABCD1:c.871_873delGAG chrX 152512438 152512439 X-ALD_c.871G>A + ABCD1:c.871G>A chrX 152512440 152512441 X-ALD_c.873G>C + ABCD1:c.873G>C chrX 152512447 152512448 X-ALD_c.880G>A + ABCD1:c.880G>A chrX 152512448 152512449 X-ALD_c.881C>T + ABCD1:c.881C>T chrX 152512453 152512467 X-ALD_c.886_899del + ABCD1:c.886_899del chrX 152512453 152512454 X-ALD_c.886T>C + ABCD1:c.886T>C chrX 152512454 152512455 X-ALD_c.887A>G + ABCD1:c.887A>G chrX 152512455 152512456 X-ALD_c.888T>G + ABCD1:c.888T>G chrX 152512459 152512464 X-ALD_c.892_896delinsGTCA + ABCD1:c.892_896delinsGTCA chrX 152512459 152512461 X-ALD_c.892_893insGC + ABCD1:c.892_893insGC chrX 152512459 152512460 X-ALD_c.892G>A + ABCD1:c.892G>A chrX 152512460 152512461 X-ALD_c.893G>A + ABCD1:c.893G>A chrX 152512460 152512461 X-ALD_c.893G>T + ABCD1:c.893G>T chrX 152512467 152512468 X-ALD_c.900G>A + ABCD1:c.900G>A chrX 152512468 152512469 X-ALD_c.900+1G>T + ABCD1:c.900+1G>T chrX 152515531 152515532 X-ALD_c.901-2A>C + ABCD1:c.901-2A>C chrX 152515532 152515533 X-ALD_c.901-1G>A + ABCD1:c.901-1G>A chrX 152515536 152515537 X-ALD_c.904G>A + ABCD1:c.904G>A chrX 152515536 152515537 X-ALD_c.904G>C + ABCD1:c.904G>C chrX 152515537 152515538 X-ALD_c.905A>G + ABCD1:c.905A>G chrX 152515551 152515552 X-ALD_c.919C>T + ABCD1:c.919C>T chrX 152515563 152515564 X-ALD_c.931C>T + ABCD1:c.931C>T chrX 152515565 152515567 X-ALD_c.933_934insA + ABCD1:c.933_934insA chrX 152515569 152515570 X-ALD_c.937delC + ABCD1:c.937delC chrX 152515575 152515576 X-ALD_c.943delT + ABCD1:c.943delT chrX 152515576 152515577 X-ALD_c.944C>A + ABCD1:c.944C>A chrX 152515597 152515598 X-ALD_c.965T>C + ABCD1:c.965T>C chrX 152515606 152515607 X-ALD_c.974T>C + ABCD1:c.974T>C chrX 152515609 152515610 X-ALD_c.977G>A + ABCD1:c.977G>A chrX 152515611 152515613 X-ALD_c.979_980insT + ABCD1:c.979_980insT chrX 152515613 152515614 X-ALD_c.981T>A + ABCD1:c.981T>A chrX 152515618 152515619 X-ALD_c.986T>G + ABCD1:c.986T>G chrX 152515620 152515638 X-ALD_c.988_1005del + ABCD1:c.988_1005del chrX 152515623 152515624 X-ALD_c.991G>A + ABCD1:c.991G>A chrX 152515626 152515627 X-ALD_c.994C>T + ABCD1:c.994C>T chrX 152515636 152515637 X-ALD_c.1004T>G + ABCD1:c.1004T>G chrX 152515639 152515640 X-ALD_c.1007A>T + ABCD1:c.1007A>T chrX 152515641 152515642 X-ALD_c.1009T>C + ABCD1:c.1009T>C chrX 152515643 152515644 X-ALD_c.1011T>A + ABCD1:c.1011T>A chrX 152515656 152515657 X-ALD_c.1024T>C + ABCD1:c.1024T>C chrX 152515659 152515660 X-ALD_c.1027G>A + ABCD1:c.1027G>A chrX 152515660 152515661 X-ALD_c.1028G>A + ABCD1:c.1028G>A chrX 152515660 152515661 X-ALD_c.1028G>T + ABCD1:c.1028G>T chrX 152515663 152515664 X-ALD_c.1031T>C + ABCD1:c.1031T>C chrX 152515701 152515702 X-ALD_c.1069delinsGCC + ABCD1:c.1069delinsGCC chrX 152515705 152515706 X-ALD_c.1073C>G + ABCD1:c.1073C>G chrX 152515708 152515710 X-ALD_c.1076_1077delAG + ABCD1:c.1076_1077delAG chrX 152515711 152515712 X-ALD_c.1079C>G + ABCD1:c.1079C>G chrX 152515714 152515715 X-ALD_c.1081+1G>T + ABCD1:c.1081+1G>T chrX 152522409 152522410 X-ALD_c.1082-3C>G + ABCD1:c.1082-3C>G chrX 152522422 152522423 X-ALD_c.1092delC + ABCD1:c.1092delC chrX 152522447 152522450 X-ALD_c.1117_1119delAAG + ABCD1:c.1117_1119delAAG chrX 152522465 152522467 X-ALD_c.1135_1136insC + ABCD1:c.1135_1136insC chrX 152522493 152522495 X-ALD_c.1163_1164insG + ABCD1:c.1163_1164insG chrX 152522495 152522496 X-ALD_c.1165C>G + ABCD1:c.1165C>G chrX 152522495 152522496 X-ALD_c.1165C>T + ABCD1:c.1165C>T chrX 152522496 152522497 X-ALD_c.1166G>A + ABCD1:c.1166G>A chrX 152522501 152522511 X-ALD_c.1171_1180del + ABCD1:c.1171_1180del chrX 152522502 152522503 X-ALD_c.1172T>C + ABCD1:c.1172T>C chrX 152522504 152522505 X-ALD_c.1174C>G + ABCD1:c.1174C>G chrX 152522516 152522517 X-ALD_c.1186G>A + ABCD1:c.1186G>A chrX 152522531 152522532 X-ALD_c.1201C>T + ABCD1:c.1201C>T chrX 152522532 152522533 X-ALD_c.1202G>A + ABCD1:c.1202G>A chrX 152522540 152522541 X-ALD_c.1210T>C + ABCD1:c.1210T>C chrX 152522549 152522550 X-ALD_c.1219A>T + ABCD1:c.1219A>T chrX 152522554 152522555 X-ALD_c.1224G>A + ABCD1:c.1224G>A chrX 152522555 152522557 X-ALD_c.1224+1_1224+2delinsTG + ABCD1:c.1224+1_1224+2delinsTG chrX 152522556 152522557 X-ALD_c.1224+2C>T + ABCD1:c.1224+2C>T chrX 152522643 152522644 X-ALD_c.1225-2A>C + ABCD1:c.1225-2A>C chrX 152522657 152522658 X-ALD_c.1237G>A + ABCD1:c.1237G>A chrX 152522657 152522658 X-ALD_c.1237G>C + ABCD1:c.1237G>C chrX 152522670 152522671 X-ALD_c.1250delC + ABCD1:c.1250delC chrX 152522672 152522673 X-ALD_c.1252C>T + ABCD1:c.1252C>T chrX 152522683 152522684 X-ALD_c.1263delG + ABCD1:c.1263delG chrX 152522690 152522691 X-ALD_c.1270delC + ABCD1:c.1270delC chrX 152522699 152522702 X-ALD_c.1279_1281delGAA + ABCD1:c.1279_1281delGAA chrX 152522708 152522709 X-ALD_c.1288C>T + ABCD1:c.1288C>T chrX 152522735 152522736 X-ALD_c.1315G>T + ABCD1:c.1315G>T chrX 152522742 152522744 X-ALD_c.1322_1323insA + ABCD1:c.1322_1323insA chrX 152522750 152522751 X-ALD_c.1330C>T + ABCD1:c.1330C>T chrX 152522779 152522780 X-ALD_c.1359delT + ABCD1:c.1359delT chrX 152522792 152522793 X-ALD_c.1372G>T + ABCD1:c.1372G>T chrX 152522810 152522811 X-ALD_c.1390C>T + ABCD1:c.1390C>T chrX 152523459 152523460 X-ALD_c.1396C>T + ABCD1:c.1396C>T chrX 152523474 152523476 X-ALD_c.1411_1412insA + ABCD1:c.1411_1412insA chrX 152523475 152523477 X-ALD_c.1412_1413delAA + ABCD1:c.1412_1413delAA chrX 152523477 152523479 X-ALD_c.1414_1415insC + ABCD1:c.1414_1415insC chrX 152523478 152523480 X-ALD_c.1415_1416delAG + ABCD1:c.1415_1416delAG chrX 152523479 152523481 X-ALD_c.1416_1417delGG + ABCD1:c.1416_1417delGG chrX 152523483 152523484 X-ALD_c.1420delA + ABCD1:c.1420delA chrX 152523485 152523490 X-ALD_c.1422_1426delCATCT + ABCD1:c.1422_1426delCATCT chrX 152523492 152523493 X-ALD_c.1429G>T + ABCD1:c.1429G>T chrX 152523501 152523502 X-ALD_c.[1438C>A(+)901-5C>A] + ABCD1:c.[..1438C>A..] chrX 152515528 152515529 X-ALD_c.[1438C>A(+)901-5C>A] + ABCD1:c.[..901-5C>A..] chrX 152523514 152523515 X-ALD_c.1451C>G + ABCD1:c.1451C>G chrX 152523525 152523527 X-ALD_c.1462_1463insTGG + ABCD1:c.1462_1463insTGG chrX 152523533 152523535 X-ALD_c.1470_1471insGTG + ABCD1:c.1470_1471insGTG chrX 152523544 152523545 X-ALD_c.1481delA + ABCD1:c.1481delA chrX 152523552 152523553 X-ALD_c.1488+1G>A + ABCD1:c.1488+1G>A chrX 152526402 152526403 X-ALD_c.1499G>T + ABCD1:c.1499G>T chrX 152526404 152526405 X-ALD_c.1501A>C + ABCD1:c.1501A>C chrX 152526408 152526410 X-ALD_c.1505_1506insC + ABCD1:c.1505_1506insC chrX 152526411 152526413 X-ALD_c.1508_1509insC + ABCD1:c.1508_1509insC chrX 152526411 152526412 X-ALD_c.1508T>C + ABCD1:c.1508T>C chrX 152526418 152526424 X-ALD_c.1515_1520del + ABCD1:c.1515_1520del chrX 152526417 152526418 X-ALD_c.1514T>C + ABCD1:c.1514T>C chrX 152526418 152526419 X-ALD_c.1515C>G + ABCD1:c.1515C>G chrX 152526422 152526423 X-ALD_c.1519G>A + ABCD1:c.1519G>A chrX 152526423 152526424 X-ALD_c.1520G>A + ABCD1:c.1520G>A chrX 152526423 152526424 X-ALD_c.1520G>T + ABCD1:c.1520G>T chrX 152526426 152526427 X-ALD_c.1523C>T + ABCD1:c.1523C>T chrX 152526429 152526430 X-ALD_c.1526A>T + ABCD1:c.1526A>T chrX 152526432 152526433 X-ALD_c.1529G>A + ABCD1:c.1529G>A chrX 152526434 152526435 X-ALD_c.1531T>C + ABCD1:c.1531T>C chrX 152526436 152526437 X-ALD_c.1533C>A + ABCD1:c.1533C>A chrX 152526437 152526438 X-ALD_c.1534G>T + ABCD1:c.1534G>T chrX 152526437 152526438 X-ALD_c.1534G>A + ABCD1:c.1534G>A chrX 152526440 152526441 X-ALD_c.1537A>C + ABCD1:c.1537A>C chrX 152526441 152526442 X-ALD_c.1538A>G + ABCD1:c.1538A>G chrX 152526443 152526444 X-ALD_c.1540A>C + ABCD1:c.1540A>C chrX 152526444 152526445 X-ALD_c.1541G>A + ABCD1:c.1541G>A chrX 152526447 152526448 X-ALD_c.1544C>T + ABCD1:c.1544C>T chrX 152526450 152526451 X-ALD_c.1547T>C + ABCD1:c.1547T>C chrX 152526454 152526455 X-ALD_c.1551delC + ABCD1:c.1551delC chrX 152526455 152526456 X-ALD_c.1552C>G + ABCD1:c.1552C>G chrX 152526455 152526456 X-ALD_c.1552C>T + ABCD1:c.1552C>T chrX 152526456 152526457 X-ALD_c.1553G>A + ABCD1:c.1553G>A chrX 152526462 152526463 X-ALD_c.1559T>A + ABCD1:c.1559T>A chrX 152526467 152526468 X-ALD_c.1564G>A + ABCD1:c.1564G>A chrX 152526471 152526472 X-ALD_c.1568T>C + ABCD1:c.1568T>C chrX 152526473 152526474 X-ALD_c.1570T>C + ABCD1:c.1570T>C chrX 152526474 152526475 X-ALD_c.1571G>A + ABCD1:c.1571G>A chrX 152526476 152526477 X-ALD_c.1573C>T + ABCD1:c.1573C>T chrX 152526485 152526488 X-ALD_c.1582_1584delGGT + ABCD1:c.1582_1584delGGT chrX 152526488 152526489 X-ALD_c.1585delG + ABCD1:c.1585delG chrX 152526489 152526494 X-ALD_c.1586_1590del + ABCD1:c.1586_1590del chrX 152526488 152526489 X-ALD_c.1585G>A + ABCD1:c.1585G>A chrX 152526489 152526490 X-ALD_c.1586G>A + ABCD1:c.1586G>A chrX 152526495 152526497 X-ALD_c.1592_1593insT + ABCD1:c.1592_1593insT chrX 152526502 152526503 X-ALD_c.1599delG + ABCD1:c.1599delG chrX 152526500 152526501 X-ALD_c.1597A>G + ABCD1:c.1597A>G chrX 152526503 152526504 X-ALD_c.1600C>T + ABCD1:c.1600C>T chrX 152526504 152526505 X-ALD_c.1601C>G + ABCD1:c.1601C>G chrX 152526504 152526505 X-ALD_c.1601C>T + ABCD1:c.1601C>T chrX 152526506 152526508 X-ALD_c.1603_1604delCC + ABCD1:c.1603_1604delCC chrX 152526506 152529647 X-ALD_c.1603_1991del + ABCD1:c.1603_1991del chrX 152526522 152526523 X-ALD_c.1619T>C + ABCD1:c.1619T>C chrX 152526522 152526523 X-ALD_c.1619T>G + ABCD1:c.1619T>G chrX 152526527 152526530 X-ALD_c.1624_1626delATC + ABCD1:c.1624_1626delATC chrX 152526531 152526532 X-ALD_c.1628delC + ABCD1:c.1628delC chrX 152526531 152526532 X-ALD_c.1628C>T + ABCD1:c.1628C>T chrX 152526531 152526538 X-ALD_c.1628_1634dup + ABCD1:c.1628_1634dup chrX 152526533 152526534 X-ALD_c.1630C>A + ABCD1:c.1630C>A chrX 152526534 152526535 X-ALD_c.1631A>G + ABCD1:c.1631A>G chrX 152526536 152526537 X-ALD_c.1633A>T + ABCD1:c.1633A>T chrX 152526538 152526539 X-ALD_c.1634+1G>A + ABCD1:c.1634+1G>A chrX 152526538 152526539 X-ALD_c.1634+1G>C + ABCD1:c.1634+1G>C chrX 152526872 152526873 X-ALD_c.1635-2A>G + ABCD1:c.1635-2A>G chrX 152526893 152526894 X-ALD_c.1654T>C + ABCD1:c.1654T>C chrX 152526900 152526901 X-ALD_c.1661G>A + ABCD1:c.1661G>A chrX 152526902 152526903 X-ALD_c.1663G>A + ABCD1:c.1663G>A chrX 152526905 152526906 X-ALD_c.1666C>T + ABCD1:c.1666C>T chrX 152526906 152526907 X-ALD_c.1667A>G + ABCD1:c.1667A>G chrX 152526909 152526911 X-ALD_c.1670_1671delTG + ABCD1:c.1670_1671delTG chrX 152526917 152526918 X-ALD_c.1678C>T + ABCD1:c.1678C>T chrX 152526918 152526919 X-ALD_c.1679C>T + ABCD1:c.1679C>T chrX 152526918 152526919 X-ALD_c.1679C>G + ABCD1:c.1679C>G chrX 152526921 152526922 X-ALD_c.1682A>T + ABCD1:c.1682A>T chrX 152526936 152526937 X-ALD_c.1697T>A + ABCD1:c.1697T>A chrX 152526936 152526937 X-ALD_c.1697T>C + ABCD1:c.1697T>C chrX 152526938 152526939 X-ALD_c.1699C>T + ABCD1:c.1699C>T chrX 152526954 152526955 X-ALD_c.1715C>A + ABCD1:c.1715C>A chrX 152526956 152526957 X-ALD_c.1717delG + ABCD1:c.1717delG chrX 152526959 152526960 X-ALD_c.1720C>T + ABCD1:c.1720C>T chrX 152526966 152526967 X-ALD_c.1727T>C + ABCD1:c.1727T>C chrX 152526985 152526986 X-ALD_c.1746delC + ABCD1:c.1746delC chrX 152526987 152526988 X-ALD_c.1748T>G + ABCD1:c.1748T>G chrX 152526993 152526994 X-ALD_c.1754T>C + ABCD1:c.1754T>C chrX 152526994 152526995 X-ALD_c.1755delG + ABCD1:c.1755delG chrX 152526998 152527010 X-ALD_c.1759_1770del + ABCD1:c.1759_1770del chrX 152527004 152527005 X-ALD_c.1765delC + ABCD1:c.1765delC chrX 152527007 152527008 X-ALD_c.1768C>T + ABCD1:c.1768C>T chrX 152527010 152527011 X-ALD_c.1771C>T + ABCD1:c.1771C>T chrX 152527011 152527012 X-ALD_c.1772G>C + ABCD1:c.1772G>C chrX 152527011 152527012 X-ALD_c.1772G>A + ABCD1:c.1772G>A chrX 152527020 152527021 X-ALD_c.1780+1G>A + ABCD1:c.1780+1G>A chrX 152527021 152527022 X-ALD_c.1780+2T>G + ABCD1:c.1780+2T>G chrX 152529285 152529286 X-ALD_c.1781-2A>G + ABCD1:c.1781-2A>G chrX 152529286 152529287 X-ALD_c.1781-1G>A + ABCD1:c.1781-1G>A chrX 152529286 152529287 X-ALD_c.1781-1G>T + ABCD1:c.1781-1G>T chrX 152529290 152529291 X-ALD_c.1784G>A + ABCD1:c.1784G>A chrX 152529291 152529292 X-ALD_c.1785G>A + ABCD1:c.1785G>A chrX 152529296 152529297 X-ALD_c.1790C>G + ABCD1:c.1790C>G chrX 152529297 152529299 X-ALD_c.1791_1792delTA + ABCD1:c.1791_1792delTA chrX 152529308 152529309 X-ALD_c.1802G>A + ABCD1:c.1802G>A chrX 152529320 152529321 X-ALD_c.1814T>A + ABCD1:c.1814T>A chrX 152529320 152529321 X-ALD_c.1814T>C + ABCD1:c.1814T>C chrX 152529322 152529323 X-ALD_c.1816T>C + ABCD1:c.1816T>C chrX 152529323 152529324 X-ALD_c.1817C>T + ABCD1:c.1817C>T chrX 152529324 152529325 X-ALD_c.1818delG + ABCD1:c.1818delG chrX 152529326 152529327 X-ALD_c.1820G>A + ABCD1:c.1820G>A chrX 152529328 152529329 X-ALD_c.1822G>A + ABCD1:c.1822G>A chrX 152529329 152529330 X-ALD_c.1823G>A + ABCD1:c.1823G>A chrX 152529331 152529332 X-ALD_c.1825G>A + ABCD1:c.1825G>A chrX 152529332 152529333 X-ALD_c.1826A>G + ABCD1:c.1826A>G chrX 152529339 152529340 X-ALD_c.1833G>C + ABCD1:c.1833G>C chrX 152529344 152529345 X-ALD_c.1838T>A + ABCD1:c.1838T>A chrX 152529352 152529353 X-ALD_c.1846G>A + ABCD1:c.1846G>A chrX 152529353 152529354 X-ALD_c.1847delC + ABCD1:c.1847delC chrX 152529353 152529354 X-ALD_c.1847C>T + ABCD1:c.1847C>T chrX 152529355 152529356 X-ALD_c.1849C>T + ABCD1:c.1849C>T chrX 152529355 152529356 X-ALD_c.1849C>G + ABCD1:c.1849C>G chrX 152529356 152529357 X-ALD_c.1850G>A + ABCD1:c.1850G>A chrX 152529356 152529357 X-ALD_c.1850G>T + ABCD1:c.1850G>T chrX 152529365 152529366 X-ALD_c.1859A>G + ABCD1:c.1859A>G chrX 152529372 152529373 X-ALD_c.1865+1G>A + ABCD1:c.1865+1G>A chrX 152529372 152529373 X-ALD_c.1865+1G>T + ABCD1:c.1865+1G>T chrX 152529511 152529512 X-ALD_c.1866-10G>A + ABCD1:c.1866-10G>A chrX 152529519 152529520 X-ALD_c.1866-2A>T + ABCD1:c.1866-2A>T chrX 152529531 152529532 X-ALD_c.1876G>A + ABCD1:c.1876G>A chrX 152529532 152529533 X-ALD_c.1877C>A + ABCD1:c.1877C>A chrX 152529538 152529539 X-ALD_c.1883T>C + ABCD1:c.1883T>C chrX 152529540 152529541 X-ALD_c.1885G>C + ABCD1:c.1885G>C chrX 152529543 152529544 X-ALD_c.1888G>A + ABCD1:c.1888G>A chrX 152529544 152529545 X-ALD_c.1889A>G + ABCD1:c.1889A>G chrX 152529546 152529547 X-ALD_c.1891T>C + ABCD1:c.1891T>C chrX 152529547 152529548 X-ALD_c.1892G>A + ABCD1:c.1892G>A chrX 152529549 152529550 X-ALD_c.1894A>C + ABCD1:c.1894A>C chrX 152529550 152529551 X-ALD_c.1895C>T + ABCD1:c.1895C>T chrX 152529553 152529554 X-ALD_c.1898G>T + ABCD1:c.1898G>T chrX 152529554 152529555 X-ALD_c.1899C>A + ABCD1:c.1899C>A chrX 152529558 152529559 X-ALD_c.1903G>A + ABCD1:c.1903G>A chrX 152529562 152529581 X-ALD_c.1907_1925del + ABCD1:c.1907_1925del chrX 152529562 152529563 X-ALD_c.1907G>T + ABCD1:c.1907G>T chrX 152529567 152529568 X-ALD_c.1912G>T + ABCD1:c.1912G>T chrX 152529573 152529574 X-ALD_c.1918G>A + ABCD1:c.1918G>A chrX 152529588 152529589 X-ALD_c.1933C>T + ABCD1:c.1933C>T chrX 152529591 152529592 X-ALD_c.1936G>C + ABCD1:c.1936G>C chrX 152529603 152529605 X-ALD_c.1948_1949delGC + ABCD1:c.1948_1949delGC chrX 152529616 152529617 X-ALD_c.1961T>C + ABCD1:c.1961T>C chrX 152529619 152529620 X-ALD_c.1964T>C + ABCD1:c.1964T>C chrX 152529622 152529623 X-ALD_c.1967C>T + ABCD1:c.1967C>T chrX 152529624 152529627 X-ALD_c.1969_1971delATC + ABCD1:c.1969_1971delATC chrX 152529625 152529628 X-ALD_c.1970_1972delTCA + ABCD1:c.1970_1972delTCA chrX 152529628 152529629 X-ALD_c.1973C>T + ABCD1:c.1973C>T chrX 152529633 152529634 X-ALD_c.1978C>T + ABCD1:c.1978C>T chrX 152529634 152529635 X-ALD_c.1979G>C + ABCD1:c.1979G>C chrX 152529643 152529644 X-ALD_c.1988T>A + ABCD1:c.1988T>A chrX 152529647 152529648 X-ALD_c.1991+1G>A + ABCD1:c.1991+1G>A chrX 152529648 152529649 X-ALD_c.1991+2T>C + ABCD1:c.1991+2T>C chrX 152529788 152529789 X-ALD_c.1992-1G>A + ABCD1:c.1992-1G>A chrX 152529643 152529645 X-ALD_c.1988_1989insT + ABCD1:c.1988_1989insT chrX 152529794 152529795 X-ALD_c.1997A>C + ABCD1:c.1997A>C chrX 152529795 152529796 X-ALD_c.1998C>G + ABCD1:c.1998C>G chrX 152529796 152529797 X-ALD_c.1999C>G + ABCD1:c.1999C>G chrX 152529797 152529798 X-ALD_c.2000A>G + ABCD1:c.2000A>G chrX 152529797 152529798 X-ALD_c.2000A>T + ABCD1:c.2000A>T chrX 152529796 152529798 X-ALD_c.1999_2000delCA + ABCD1:c.1999_2000delCA chrX 152529799 152529800 X-ALD_c.2002A>C + ABCD1:c.2002A>C chrX 152529800 152529801 X-ALD_c.2003C>T + ABCD1:c.2003C>T chrX 152529803 152529804 X-ALD_c.2006A>G + ABCD1:c.2006A>G chrX 152529804 152529805 X-ALD_c.2007C>G + ABCD1:c.2007C>G chrX 152529807 152529809 X-ALD_c.2010_2011insT + ABCD1:c.2010_2011insT chrX 152529811 152529812 X-ALD_c.2014C>T + ABCD1:c.2014C>T chrX 152529832 152529833 X-ALD_c.2035T>C + ABCD1:c.2035T>C chrX 152529834 152529835 X-ALD_c.2037G>A + ABCD1:c.2037G>A chrX 152529848 152529849 X-ALD_c.2051T>C + ABCD1:c.2051T>C chrX 152529875 152529876 X-ALD_c.2078C>T + ABCD1:c.2078C>T chrX 152511568 152523552 X-ALD_c.1_1488del + ABCD1:c.1_1488del chrX 152515533 152515714 X-ALD_c.901_1081del + ABCD1:c.901_1081del chrX 152515533 152527020 X-ALD_c.901_1780del + ABCD1:c.901_1780del chrX 152522412 152523552 X-ALD_c.1082_1488del + ABCD1:c.1082_1488del chrX 152522412 152526538 X-ALD_c.1082_1634del + ABCD1:c.1082_1634del chrX 152522412 152530036 X-ALD_c.1082_2238del + ABCD1:c.1082_2238del chrX 152523457 152523552 X-ALD_c.1394_1488del + ABCD1:c.1394_1488del chrX 152526392 152526538 X-ALD_c.1489_1634del + ABCD1:c.1489_1634del chrX 152526392 152530036 X-ALD_c.1489_2238del + ABCD1:c.1489_2238del chrX 152526874 152529647 X-ALD_c.1635_1991del + ABCD1:c.1635_1991del chrX 152526874 152530036 X-ALD_c.1635_2238del + ABCD1:c.1635_2238del chrX 152529287 152529647 X-ALD_c.1781_1991del + ABCD1:c.1781_1991del chrX 152529287 152530036 X-ALD_c.1781_2238del + ABCD1:c.1781_2238del chr7 91802536 91802537 PEX1_00000 - PEX1:c.-137T>C chr7 91802452 91802453 PEX1_00000.1 - PEX1:c.-53C>G chr7 91792129 91792144 PEX1_03041 - PEX1:c.434_448delinsGCAA chr7 91791698 91791699 PEX1_03063 - PEX1:c.781C>T chr7 91791690 91791692 PEX1_03055 - PEX1:c.788_789delCA chr7 91791575 91791576 PEX1_03013 - PEX1:c.904delG chr7 91791370 91791372 PEX1_03061 - PEX1:c.1108_1109insA chr7 91778776 91778777 PEX1_03066 - PEX1:c.1991T>C chr7 91783288 91783289 PEX1_03048 - PEX1:c.1670+5G>T chr7 91780984 91780985 PEX1_03043 - PEX1:c.1777G>A chr7 91780246 91780248 PEX1_03035 - PEX1:c.1865_1866insCAGTGTGGA chr7 91780215 91780216 PEX1_03064 - PEX1:c.1897C>T chr7 91778807 91778816 PEX1_03039 - PEX1:c.1952_1960insCAGTGTGGA chr7 91778759 91778760 PEX1_03041.1 - PEX1:c.2008C>A chr7 91778732 91778734 PEX1_00621 - PEX1:c.2034_2035delCA chr7 91778695 91778696 PEX1_03043.1 - PEX1:c.2071+1G>T chr7 91777143 91777144 PEX1_00000.2 - PEX1:c.2088A>G chr7 91775878 91775880 PEX1_03062 - PEX1:c.2391_2392delTC chr7 91779235 91779236 PEX1_00642 - PEX1:c.2085-2089delGATAA chr7 91777133 91777135 PEX1_00036 - PEX1:c.2097_2098insT chr7 91775854 91776044 PEX1_03030 - PEX1:c.2227_2416del chr7 91775939 91775940 PEX1_00000.3 - PEX1:c.2331C>A chr7 91775902 91775903 PEX1_03012 - PEX1:c.2368C>T chr7 91775887 91775888 PEX1_00002 - PEX1:c.2383C>T chr7 91775878 91775879 PEX1_03003 - PEX1:c.2392C>G chr7 91775526 91775527 PEX1_00781 - PEX1:c.2528G>A chr7 91775509 91775518 PEX1_00651 - PEX1:c.2537_2545delATGAAGTTAinsTCATGGT chr7 91773772 91773773 PEX1_03028 - PEX1:c.2614C>T chr7 91770730 91770731 PEX1_03045 - PEX1:c.2730delA chr7 91768559 91768564 PEX1_03033 - PEX1:c.2814_2818delCTTTG chr7 91768531 91768532 PEX1_03061.1 - PEX1:c.2846G>A chr7 91768461 91768462 PEX1_03036 - PEX1:c.2916delA chr7 91768450 91768451 PEX1_00635 - PEX1:c.2926+1G>A chr7 91768449 91768450 PEX1_03049 - PEX1:c.2926+2T>C chr7 91768448 91768450 PEX1_00009 - PEX1:c.2926+2_2926+3insT chr7 91768321 91768322 PEX1_03062.1 - PEX1:c.2966T>C chr7 91768295 91768296 PEX1_03000 - PEX1:c.2992C>T chr7 91768294 91768295 PEX1_03062.2 - PEX1:c.2993G>A chr7 91768263 91768266 PEX1_00616 - PEX1:c.3022_3024delCCT chr7 91766943 91766945 PEX1_00020 - PEX1:c.3180_3181insT chr7 91765296 91765297 PEX1_03065 - PEX1:c.3378C>A/G chr7 91761423 91761424 PEX1_03042 - PEX1:c.3850T>C chr1 2376099 2376100 PEX10_00603 - PEX10:c.4delG chr1 2376075 2376091 PEX10_00117 - PEX10:c.13_28delins20 chr1 2376051 2376052 PEX10_00740 - PEX10:c.52G>A chr1 2372373 2372374 PEX10_00000 - PEX10:c.279C>T chr1 2372320 2372321 PEX10_00000.1 - PEX10:c.332T>C chr1 2372279 2372280 PEX10_00052 - PEX10:c.373C>T chr1 2370391 2370393 PEX10_00117.1 - PEX10:c.704_705insA chr1 2370366 2370367 PEX10_00652 - PEX10:c.730C>T chr1 2370181 2370183 PEX10_05018 - PEX10:c.814_815delCT chr1 2370176 2370177 PEX10_00000.2 - PEX10:c.820A>G chr1 2370161 2370162 PEX10_00603.1 - PEX10:c.835G>T chr1 2370153 2370154 PEX10_00000.3 - PEX10:c.843G>A chr1 2370128 2370129 PEX10_00723 - PEX10:c.868C>G chr1 2370126 2370127 PEX10_00052.1 - PEX10:c.870C>G chr1 2370115 2370116 PEX10_05208 - PEX10:c.881G>A chr1 2369355 2369356 PEX10_00000.4 - PEX10:c.981+11G>A chr1 2372051 2372052 PEX10_00100 - PEX10:c.600+1G>A chr17 30929126 30929128 PEX12_00099 - PEX12:c.26_27delCA chr17 30928645 30928648 PEX12_00095 - PEX12:c.202_204delCTT chr17 30928588 30928590 PEX12_00645 - PEX12:c.260_261insAA chr17 30928578 30928582 PEX12_00096 - PEX12:c.268_271delAAGA chr17 30928576 30928577 PEX12_05002 - PEX12:c.273A>T chr17 30928540 30928542 PEX12_05003 - PEX12:c.308_309insT chr17 30928314 30928317 PEX12_00669 - PEX12:c.533_535delAAC chr17 30928311 30928312 PEX12_05007 - PEX12:c.538C>T chr17 30928307 30928309 PEX12_00633 - PEX12:c.541_542insT chr17 30928245 30928246 PEX12_05004 - PEX12:c.604C>T chr17 30928224 30928225 PEX12_05005 - PEX12:c.625C>T chr17 30927306 30927310 PEX12_00040 - PEX12:c.684_687delTAGT chr17 30927259 30927261 PEX12_00633.1 - PEX12:c.733_734insGCCT chr17 30927248 30927250 PEX12_00097 - PEX12:c.744_745insT chr17 30927117 30927119 PEX12_05008 - PEX12:c.875_876delCT chr17 30927105 30927107 PEX12_05005.1 - PEX12:c.887_888delTC chr17 30927106 30927107 PEX12_00644 - PEX12:c.887delT chr17 30927044 30927045 PEX12_05029 - PEX12:c.949C>T chr17 30927034 30927035 PEX12_00673 - PEX12:c.959C>T chr17 30926944 30926947 PEX12_00644.1 - PEX12:c.1047_1049delACA chr17 30929026 30929027 PEX12_00006 - PEX12:c.126+1G>T chr17 30927314 30927315 PEX12_00704 - PEX12:c.681-2A>C chr2 61187280 61187281 PEX13_05204 + PEX13:c.937T>G chr2 61187313 61187314 PEX13_05202 + PEX13:c.970G>T chr2 61187320 61187321 PEX13_05201 + PEX13:c.977T>C chr1 10618727 10618728 PEX14_50100 + PEX14:c.553C>T chr11 45892745 45892746 PEX16_00061 - PEX16:c.526C>T chr11 45889022 45889023 PEX16_05200 - PEX16:c.952+2T>C chr1 157062939 157062941 PEX19_05203 - PEX19:c.763_764insA chr8 78059026 78059027 PEX2_00000 - PEX2:c.-58G>T chr8 78058945 78058946 PEX2_00000.1 - PEX2:c.24G>A chr8 78058854 78058855 PEX2_05205 - PEX2:c.115C>T chr8 78058806 78058807 PEX2_05032 - PEX2:c.163G>A chr8 78058760 78058761 PEX2_00000.2 - PEX2:c.209A>G chr8 78058696 78058697 PEX2_00637 - PEX2:c.273delT chr8 78058686 78058691 PEX2_05038 - PEX2:c.279_283delGAGAT chr8 78058614 78058615 PEX2_05032.1 - PEX2:c.355C>T chr8 78058596 78058597 PEX2_05031 - PEX2:c.373C>T chr8 78058492 78058493 PEX2_00000.3 - PEX2:c.477G>A chr8 78058419 78058420 PEX2_05034 - PEX2:c.550delC chr8 78058327 78058328 PEX2_05033 - PEX2:c.642delG chr8 78058300 78058301 PEX2_05036 - PEX2:c.669G>A chr8 78058230 78058231 PEX2_05035 - PEX2:c.739T>C chr8 78058131 78058136 PEX2_05206 - PEX2:c.834_838delTACTT chr22 16935697 16935698 PEX26_00114 + PEX26:c.2T>C chr22 16935729 16935731 PEX26_05009 + PEX26:c.34_35insC chr22 16935732 16935734 PEX26_00632 + PEX26:c.37_38delAG chr22 16935826 16935827 PEX26_00110 + PEX26:c.131T>C chr22 16935829 16935830 PEX26_00114.1 + PEX26:c.134T>C chr22 16935887 16935912 PEX26_00714 + PEX26:c.192_216del chr22 16937216 16937218 PEX26_00063 + PEX26:c.254_255insT chr22 16937227 16937228 PEX26_05000 + PEX26:c.265G>A chr22 16937254 16937255 PEX26_00110.1 + PEX26:c.292C>T chr22 16937258 16937259 PEX26_00676 + PEX26:c.296G>A chr22 16937312 16937313 PEX26_00055 + PEX26:c.350C>T chr22 16937315 16937316 PEX26_00714.1 + PEX26:c.353C>G chr22 16940841 16940842 PEX26_00000 + PEX26:c.457C>G chr22 16940881 16940882 PEX26_00000.1 + PEX26:c.497G>A chr22 16940958 16940959 PEX26_00634 + PEX26:c.574C>T chr22 16945338 16945339 PEX26_00055.1 + PEX26:c.862delC chr22 16935926 16935927 PEX26_00059 + PEX26:c.230+1G>T chr22 16941053 16941054 PEX26_00632.1 + PEX26:c.667+2T>C chr6 143834405 143834407 PEX3_05039 + PEX3:c.543_544insT chr6 143847973 143847974 PEX3_05040 + PEX3:c.942-8T>G chr12 7252416 7252417 PEX5_00005 + PEX5:c.1255C>T chr12 7253562 7253563 PEX5_00018 + PEX5:c.1554T>G chr6 43055169 43055170 PEX6_00000 - PEX6:c.-304A>G chr6 43054920 43054921 PEX6_00000.1 - PEX6:c.-55C>T chr6 43054797 43054857 PEX6_00115 - PEX6:c.10_69del chr6 43054649 43054741 PEX6_00115.1 - PEX6:c.126_217del chr6 43054831 43054832 PEX6_00718 - PEX6:c.35T>C chr6 43054696 43054697 PEX6_00012 - PEX6:c.170T>C chr6 43054631 43054632 PEX6_00000.2 - PEX6:c.235G>C chr6 43054586 43054592 PEX6_30013 - PEX6:c.275_280delTGCGGG chr6 43054585 43054586 PEX6_00666 - PEX6:c.281C>A chr6 43054579 43054585 PEX6_00119 - PEX6:c.282_287del chr6 43054555 43054556 PEX6_00049 - PEX6:c.311delG chr6 43054467 43054468 PEX6_00000.3 - PEX6:c.399T>G chr6 43054464 43054465 PEX6_30012 - PEX6:c.402delC chr6 43054355 43054357 PEX6_00101 - PEX6:c.510_511insT chr6 43054349 43054350 PEX6_00101.1 - PEX6:c.517delA chr6 43054336 43054337 PEX6_30013.1 - PEX6:c.530delC chr6 43054180 43054182 PEX6_03500 - PEX6:c.685_686insAG chr6 43054139 43054140 PEX6_30007 - PEX6:c.727C>T chr6 43054051 43054065 PEX6_30001 - PEX6:c.802_815del chr6 43054053 43054054 PEX6_00000.4 - PEX6:c.813G>T chr6 43054049 43054053 PEX6_30015 - PEX6:c.814_817dupCTTG chr6 43054045 43054046 PEX6_00675 - PEX6:c.821C>T chr6 43054013 43054014 PEX6_00102 - PEX6:c.853C>G chr6 43053983 43053984 PEX6_00636 - PEX6:c.882+1G>A chr6 43050756 43050757 PEX6_00000.5 - PEX6:c.883-3T>C chr6 43050755 43050756 PEX6_30009 - PEX6:c.883-2A>G chr6 43041759 43041760 PEX6_30001.1 - PEX6:c.2362G>A chr6 43050607 43050611 PEX6_00304 - PEX6:c.1026_1029dupCCGG chr6 43045657 43045658 PEX6_00000.6 - PEX6:c.1176T>A chr6 43045449 43045450 PEX6_30010 - PEX6:c.1301delC chr6 43045430 43045437 PEX6_00103 - PEX6:c.1314_1320del chr6 43044004 43044005 PEX6_30002 - PEX6:c.1688+1G>A chr6 43054366 43054368 PEX6_00107 - PEX6:c.499_500delTG chr6 43043252 43043253 PEX6_30017 - PEX6:c.1715C>T chr6 43043166 43043167 PEX6_00119.1 - PEX6:c.1801C>T chr6 43043165 43043166 PEX6_00050 - PEX6:c.1802G>A chr6 43042477 43042478 PEX6_00000.7 - PEX6:c.1961+20G>A chr6 43042373 43042374 PEX6_00106 - PEX6:c.1962-1G>A chr6 43042238 43042239 PEX6_30019 - PEX6:c.2094+2T>C chr6 43041021 43041022 PEX6_30018 - PEX6:c.2534T>C chr6 43041503 43041504 PEX6_00000.8 - PEX6:c.2364G>A chr6 43041450 43041470 PEX6_00718.1 - PEX6:c.2398_2417delinsT chr6 43041441 43041442 PEX6_00000.9 - PEX6:c.2426C>T chr6 43041433 43041434 PEX6_00050.1 - PEX6:c.2434C>T chr6 43041432 43041433 PEX6_00011 - PEX6:c.2435G>A chr6 43041085 43041086 PEX6_00103.1 - PEX6:c.2472-2A>G chr6 43040977 43040978 PEX6_00102.1 - PEX6:c.2578C>T chr6 43040976 43040977 PEX6_00108 - PEX6:c.2579G>A chr6 43040812 43040813 PEX6_00000.10 - PEX6:c.2644G>A chr6 43040788 43040789 PEX6_00011.1 - PEX6:c.2666+2T>C chr6 43040576 43040577 PEX6_00105 - PEX6:c.2735C>T chr6 43040541 43040542 PEX6_00000.11 - PEX6:c.2770G>T chr6 43040523 43040524 PEX6_00041 - PEX6:c.2788delG chr6 43040179 43040180 PEX6_00000.12 - PEX6:c.2814A>G chr6 43040177 43040178 PEX6_00000.13 - PEX6:c.2816C>A chr6 43040035 43040036 PEX6_00000.14 - PEX6:c.2958C>T chr6 137185401 137185402 PEX7_00000 + PEX7:c.-95T>C chr6 137185451 137185452 PEX7_00424 + PEX7:c.-45C>T chr6 137185507 137185514 PEX7_00824 + PEX7:c.12_18dupGTGCGGT chr6 137185535 137185536 PEX7_00825 + PEX7:c.40A>C chr6 137185540 137185548 PEX7_00435 + PEX7:c.45_52delGGGACGCC chr6 137185540 137185548 PEX7_00866 + PEX7:c.45_52dupGGGACGCC chr6 137185559 137185561 PEX7_00802 + PEX7:c.64_65delGC chr6 137185569 137185570 PEX7_00075 + PEX7:c.74C>T chr6 137185611 137185612 PEX7_00126 + PEX7:c.116A>C chr6 137185615 137185616 PEX7_00824.1 + PEX7:c.120C>G chr6 137185617 137185618 PEX7_00124 + PEX7:c.122G>T chr6 137185626 137185627 PEX7_00412 + PEX7:c.130+1G>A chr6 137188102 137188103 PEX7_00803 + PEX7:c.188+1G>C chr6 137188102 137188103 PEX7_00813 + PEX7:c.188+1G>A chr6 137189217 137189218 PEX7_00431 + PEX7:c.257G>T chr6 137189289 137189290 PEX7_00421 + PEX7:c.329A>G chr6 137189294 137189295 PEX7_00148 + PEX7:c.334C>T chr6 137208435 137208436 PEX7_00147 + PEX7:c.340-10A>G chr6 137185614 137185615 PEX7_00146 + PEX7:c.119A>G chr6 137208450 137208451 PEX7_00147.1 + PEX7:c.345T>G chr6 137208475 137208502 PEX7_00869 + PEX7:c.370_396del27 chr6 137208500 137208501 PEX7_00073 + PEX7:c.395C>A chr6 137208911 137208912 PEX7_00428 + PEX7:c.426delA chr6 137208939 137208940 PEX7_00830 + PEX7:c.454A>T chr6 137208975 137208976 PEX7_00138 + PEX7:c.490T>C chr6 137208993 137208996 PEX7_00140 + PEX7:c.508_510delTGT chr6 137229548 137229549 PEX7_00126.1 + PEX7:c.618G>A chr6 137232735 137232736 PEX7_00419 + PEX7:c.649G>A chr6 137232739 137232740 PEX7_00145 + PEX7:c.653C>T chr6 137232834 137232835 PEX7_00809 + PEX7:c.747+1G>A chr6 137235053 137235054 PEX7_00430 + PEX7:c.773T>C chr6 137235065 137235066 PEX7_00810 + PEX7:c.785C>T chr6 137261072 137261073 PEX7_00821 + PEX7:c.903+1G>C chr6 137208914 137208915 PEX7_00134 + PEX7:c.429delT chr6 137261022 137261023 PEX7_00425 + PEX7:c.854A>G chr6 137261038 137261040 PEX7_00809.1 + PEX7:c.870_871insCAA chr6 137261043 137261044 PEX7_00424.1 + PEX7:c.875T>A chr6 137276301 137276302 PEX7_00828 + PEX7:c.917C>T chr6 137276613 137276615 PEX7_00000.1 + PEX7:c.1229_1230insAGT chr8 86564799 86564800 CA2base_CA2_DNA:g.2303C>T + CA2_DNA:g.2303C>T chr8 86564816 86564817 CA2base_CA2_DNA:g.2320delC + CA2_DNA:g.2320delC chr8 86564837 86564838 CA2base_CA2_DNA:g.2341T>G + CA2_DNA:g.2341T>G chr8 86564859 86564863 CA2base_CA2_DNA:g.2363_2366delTCTG + CA2_DNA:g.2363_2366delTCTG chr8 86564862 86564866 CA2base_CA2_DNA:g.2366_2369delGTTT + CA2_DNA:g.2366_2369delGTTT chr8 86564874 86564875 CA2base_CA2_DNA:g.2378delC + CA2_DNA:g.2378delC chr8 86564908 86564909 CA2base_CA2_DNA:g.2412delA + CA2_DNA:g.2412delA chr8 86564950 86564951 CA2base_CA2_DNA:g.2454G>A + CA2_DNA:g.2454G>A chr8 86564937 86564939 CA2base_CA2_DNA:g.2441_2442delCA + CA2_DNA:g.2441_2442delCA chr8 86573215 86573216 CA2base_CA2_DNA:g.10719A>C + CA2_DNA:g.10719A>C chr8 86573220 86573221 CA2base_CA2_DNA:g.10724C>T + CA2_DNA:g.10724C>T chr8 86573882 86573883 CA2base_CA2_DNA:g.11386G>C + CA2_DNA:g.11386G>C chr8 86573230 86573231 CA2base_CA2_DNA:g.10734G>A + CA2_DNA:g.10734G>A chr8 86573259 86573260 CA2base_CA2_DNA:g.10763C>T + CA2_DNA:g.10763C>T chr8 86576599 86576600 CA2base_CA2_DNA:g.14103G>C + CA2_DNA:g.14103G>C chr8 86575338 86575339 CA2base_CA2_DNA:g.12842delA + CA2_DNA:g.12842delA chr8 86576627 86576629 CA2base_CA2_DNA:g.14131_14132insGT + CA2_DNA:g.14131_14132insGT chr8 86576713 86576714 CA2base_CA2_DNA:g.14217delC + CA2_DNA:g.14217delC chr8 86576712 86576713 CA2base_CA2_DNA:g.14216delC + CA2_DNA:g.14216delC chr8 86576722 86576734 CA2base_CA2_DNA:g.14226_14237delinsCACA + CA2_DNA:g.14226_14237delinsCACA chr8 86580165 86580166 CA2base_CA2_DNA:g.17669delA + CA2_DNA:g.17669delA chr8 86580182 86580184 CA2base_CA2_DNA:g.17686_17687delGG + CA2_DNA:g.17686_17687delGG chr8 86580239 86580240 CA2base_CA2_DNA:g.17743delG + CA2_DNA:g.17743delG chr8 86576756 86576757 CA2base_CA2_DNA:g.14260G>T + CA2_DNA:g.14260G>T chr16 1450873 1450874 CLCN7base_CLCN7_DNA:g.15140dupT - CLCN7_DNA:g.15140dupT chr16 1450477 1450478 CLCN7base_CLCN7_DNA:g.15536G>A - CLCN7_DNA:g.15536G>A chr16 1449175 1449176 CLCN7base_CLCN7_DNA:g.16838G>A - CLCN7_DNA:g.16838G>A chr16 1449146 1449147 CLCN7base_CLCN7_DNA:g.16867C>T - CLCN7_DNA:g.16867C>T chr16 1449140 1449141 CLCN7base_CLCN7_DNA:g.16873G>A - CLCN7_DNA:g.16873G>A chr16 1447715 1447716 CLCN7base_CLCN7_DNA:g.18298G>A - CLCN7_DNA:g.18298G>A chr16 1440539 1440540 CLCN7base_CLCN7_DNA:g.25474C>T - CLCN7_DNA:g.25474C>T chr16 1447331 1447332 CLCN7base_CLCN7_DNA:g.18682C>T - CLCN7_DNA:g.18682C>T chr16 1446173 1446174 CLCN7base_CLCN7_DNA:g.19840G>A - CLCN7_DNA:g.19840G>A chr16 1446174 1446175 CLCN7base_CLCN7_DNA:g.19839C>T - CLCN7_DNA:g.19839C>T chr16 1445239 1445240 CLCN7base_CLCN7_DNA:g.20774A>G - CLCN7_DNA:g.20774A>G chr16 1437039 1437040 CLCN7base_CLCN7_DNA:g.28974C>T - CLCN7_DNA:g.28974C>T chr16 1444466 1444467 CLCN7base_CLCN7_DNA:g.21547delA - CLCN7_DNA:g.21547delA chr16 1437570 1437571 CLCN7base_CLCN7_DNA:g.28443G>A - CLCN7_DNA:g.28443G>A chr16 1440647 1440648 CLCN7base_CLCN7_DNA:g.25366C>T - CLCN7_DNA:g.25366C>T chr16 1439283 1439284 CLCN7base_CLCN7_DNA:g.26730C>T - CLCN7_DNA:g.26730C>T chr16 1437053 1437054 CLCN7base_CLCN7_DNA:g.28960G>A - CLCN7_DNA:g.28960G>A chr16 1437708 1437709 CLCN7base_CLCN7_DNA:g.28305G>A - CLCN7_DNA:g.28305G>A chr16 1437699 1437700 CLCN7base_CLCN7_DNA:g.28314G>T - CLCN7_DNA:g.28314G>T chr16 1437665 1437668 CLCN7base_CLCN7_DNA:g.28346_28348delCTA - CLCN7_DNA:g.28346_28348delCTA chr16 1437053 1437054 CLCN7base_CLCN7_DNA:g.28960G>T - CLCN7_DNA:g.28960G>T chr16 1437044 1437045 CLCN7base_CLCN7_DNA:g.28969G>A - CLCN7_DNA:g.28969G>A chr16 1437041 1437042 CLCN7base_CLCN7_DNA:g.28972T>C - CLCN7_DNA:g.28972T>C chr16 1437038 1437039 CLCN7base_CLCN7_DNA:g.28975G>A - CLCN7_DNA:g.28975G>A chr16 1436687 1436688 CLCN7base_CLCN7_DNA:g.29326C>A - CLCN7_DNA:g.29326C>A chr16 1436664 1436666 CLCN7base_CLCN7_DNA:g.29348_29349delAG - CLCN7_DNA:g.29348_29349delAG chr6 108502512 108502513 OSTM1base_D0065:g.1106T>A - D0065:g.1106T>A chr6 108492182 108492184 OSTM1base_D0065:g.11435_11436delAG - D0065:g.11435_11436delAG chr6 108477144 108477145 OSTM1base_D0065:g.26474G>A - D0065:g.26474G>A chr5 176763837 176763838 F12base_D0119:g.6346C>A - D0119:g.6346C>A chr5 176763837 176763838 F12base_D0119:g.6346C>G - D0119:g.6346C>G chr11 47326550 47326551 FHC0001 - U91629.1(MYBPC3):g.5256G>A chr11 47326552 47326553 FHC0002 - U91629.1(MYBPC3):g.5254A>C chr11 47325982 47325983 FHC0003 - U91629.1(MYBPC3):g.5824G>T chr11 47326640 47326641 FHC0004 - U91629.1(MYBPC3):g.5166G>A chr11 47325982 47325983 FHC0005 - U91629.1(MYBPC3):g.5824G>A chr11 47325978 47325979 FHC0006 - U91629.1(MYBPC3):g.5828G>A chr11 47325795 47325796 FHC0007 - U91629.1(MYBPC3):g.6011G>A chr11 47325792 47325793 FHC0008 - U91629.1(MYBPC3):g.6014G>C chr11 47324498 47324499 FHC0010 - U91629.1(MYBPC3):g.7308A>G chr11 47324446 47324447 FHC0012 - U91629.1(MYBPC3):g.7360G>A chr11 47324368 47324369 FHC0015 - U91629.1(MYBPC3):g.7438T>C chr11 47321390 47321391 FHC0016 - U91629.1(MYBPC3):g.10385A>G chr11 47321262 47321264 FHC0017 - U91629.1(MYBPC3):g.10512_10513del chr11 47321188 47321189 FHC0018 - U91629.1(MYBPC3):g.10587delT chr11 47321157 47321158 FHC0019 - U91629.1(MYBPC3):g.10618delC chr11 47321147 47321148 FHC0020 - U91629.1(MYBPC3):g.10628G>C chr11 47321043 47321044 FHC0022 - U91629.1(MYBPC3):g.10732C>T chr11 47320844 47320845 FHC0025 - U91629.1(MYBPC3):g.10931G>A chr11 47320824 47320825 FHC0026 - U91629.1(MYBPC3):g.10951C>T chr11 47320823 47320824 FHC0027 - U91629.1(MYBPC3):g.10952G>A chr11 47320816 47320819 FHC0028 - U91629.1(MYBPC3):g.10957_10959del chr11 47320704 47320705 FHC0029 - U91629.1(MYBPC3):g.11071G>C chr11 47320727 47320729 FHC0030 - U91629.1(MYBPC3):g.11047_11048del chr11 47320702 47320703 FHC0032 - U91629.1(MYBPC3):g.11073T>C chr11 47320130 47320131 FHC0035 - U91629.1(MYBPC3):g.11645delT chr11 47319363 47319364 FHC0038 - U91629.1(MYBPC3):g.12413delA chr11 47317918 47317919 FHC0040 - U91629.1(MYBPC3):g.13858A>G chr11 47317883 47317884 FHC0045 - U91629.1(MYBPC3):g.13893G>A chr11 47317796 47317797 FHC0048 - U91629.1(MYBPC3):g.13980G>A chr11 47317505 47317506 FHC0050 - U91629.1(MYBPC3):g.14271delC chr11 47316713 47316735 FHC0053 - U91629.1(MYBPC3):g.15042_15063dup chr11 47316689 47316690 FHC0055 - U91629.1(MYBPC3):g.15087C>A chr11 47315946 47315947 FHC0060 - U91629.1(MYBPC3):g.15829A>G chr11 47316645 47316646 FHC0061 - U91629.1(MYBPC3):g.15131G>T chr11 47316645 47316646 FHC0062 - U91629.1(MYBPC3):g.15131G>A chr11 47316688 47316689 FHC0063 - U91629.1(MYBPC3):g.15088delC chr11 47315856 47315857 FHC0065 - U91629.1(MYBPC3):g.15919dupG chr11 47315690 47315691 FHC0066 - U91629.1(MYBPC3):g.16085G>A chr11 47315687 47315688 FHC0067 - U91629.1(MYBPC3):g.16088A>G chr11 47315621 47315622 FHC0068 - U91629.1(MYBPC3):g.16154C>T chr11 47315582 47315587 FHC0069 - U91629.1(MYBPC3):g.16189_16193del chr11 47315581 47315586 FHC0070 - U91629.1(MYBPC3):g.16190_16194del chr11 47315528 47315542 FHC0071 - U91629.1(MYBPC3):g.16234_16247dup chr11 47315563 47315564 FHC0072 - U91629.1(MYBPC3):g.16212delC chr11 47314054 47314055 FHC0073 - U91629.1(MYBPC3):g.17721G>A chr11 47314001 47314003 FHC0074 - U91629.1(MYBPC3):g.17773_17774delGT chr11 47314054 47314055 FHC0075 - U91629.1(MYBPC3):g.17721G>A chr11 47313208 47313210 FHC0076 - U91629.1(MYBPC3):g.18566_18567del chr11 47313168 47313169 FHC0077 - U91629.1(MYBPC3):g.18607C>T chr11 47313167 47313168 FHC0078 - U91629.1(MYBPC3):g.18608G>A chr11 47313239 47313241 FHC0079 - U91629.1(MYBPC3):g.18535_18536del chr11 47311748 47311750 FHC0080 - U91629.1(MYBPC3):g.20025_20026ins chr11 47311839 47311840 FHC0081 - U91629.1(MYBPC3):g.19935C>T chr11 47311692 47311693 FHC0082 - U91629.1(MYBPC3):g.20082C>T chr11 47311678 47311679 FHC0083 - U91629.1(MYBPC3):g.20096G>A chr11 47311364 47311365 FHC0084 - U91629.1(MYBPC3):g.20410G>T chr11 47311315 47311316 FHC0085 - U91629.1(MYBPC3):g.20459G>C chr11 47311318 47311319 FHC0086 - U91629.1(MYBPC3):g.20456T>G chr11 47310939 47310940 FHC0090 - U91629.1(MYBPC3):g.20835G>A chr11 47310739 47310740 FHC0091 - U91629.1(MYBPC3):g.21034G>A chr11 47310714 47310715 FHC0092 - U91629.1(MYBPC3):g.21059delG chr11 47310249 47310250 FHC0093 - U91629.1(MYBPC3):g.21524G>A chr11 47310691 47310692 FHC0094 - U91629.1(MYBPC3):g.21082G>A chr11 47310352 47310354 FHC0095 - U91629.1(MYBPC3):[..21420_21421ins21404_21415..] chr11 47310350 47310354 FHC0095 - U91629.1(MYBPC3):[..21420_21423del..] chr11 47310315 47310316 FHC0096 - U91629.1(MYBPC3):g.21458C>T chr11 47310252 47310254 FHC0097 - U91629.1(MYBPC3):g.21520_21521ins21503_21520 chr14 22972751 22972754 FHC0098 - X52889.1(MYH7):g.4421_4423del chr14 22972704 22972705 FHC0099 - X52889.1(MYH7):g.4470C>T chr14 22972606 22972607 FHC0101 - X52889.1(MYH7):g.4568G>A chr14 22971818 22971819 FHC0102 - X52889.1(MYH7):g.5353C>T chr14 22971761 22971762 FHC0103 - X52889.1(MYH7):g.5410G>A chr14 22971704 22971705 FHC0104 - X52889.1(MYH7):g.5467A>G chr14 22970879 22970880 FHC0105 - X52889.1(MYH7):g.6283G>C chr14 22970887 22970888 FHC0106 - X52889.1(MYH7):g.6275C>G chr14 22970885 22970886 FHC0107 - X52889.1(MYH7):g.6277C>A chr14 22970670 22970671 FHC0108 - X52889.1(MYH7):g.6491A>G chr14 22970701 22970702 FHC0109 - X52889.1(MYH7):g.6460C>A chr14 22970516 22970517 FHC0111 - X52889.1(MYH7):g.6643G>A chr14 22970495 22970496 FHC0112 - X52889.1(MYH7):g.6664G>A chr14 22970526 22970527 FHC0113 - X52889.1(MYH7):g.6633A>C chr14 22970474 22970475 FHC0114 - X52889.1(MYH7):g.6685T>C chr14 22969631 22969632 FHC0115 - X52889.1(MYH7):g.7543G>C chr14 22968366 22968367 FHC0116 - X52889.1(MYH7):[..8808C>G..] chr14 22968364 22968365 FHC0116 - X52889.1(MYH7):[..8810G>T..] chr14 22968326 22968327 FHC0117 - X52889.1(MYH7):g.8848G>A chr14 22968327 22968328 FHC0118 - X52889.1(MYH7):g.8847C>T chr14 22968326 22968327 FHC0119 - X52889.1(MYH7):g.8848G>T chr14 22968385 22968386 FHC0120 - X52889.1(MYH7):g.8789G>T chr14 22968053 22968054 FHC0121 - X52889.1(MYH7):g.9123C>T chr14 22967588 22967589 FHC0123 - X52889.1(MYH7):g.9585T>G chr14 22966771 22966772 FHC0124 - X52889.1(MYH7):g.10391G>C chr14 22966761 22966762 FHC0125 - X52889.1(MYH7):g.10401A>T chr14 22966716 22966717 FHC0126 - X52889.1(MYH7):g.10446A>G chr14 22966720 22966721 FHC0127 - X52889.1(MYH7):g.10442C>G chr14 22966703 22966706 FHC0130 - X52889.1(MYH7):p.V606L chr14 22967631 22967632 FHC0131 - X52889.1(MYH7):g.9542G>A chr14 22966705 22966706 FHC0132 - X52889.1(MYH7):g.10457G>A chr14 22966676 22966677 FHC0134 - X52889.1(MYH7):g.10486G>C chr14 22965892 22965893 FHC0135 - X52889.1(MYH7):g.11271G>A chr14 22965882 22965883 FHC0136 - X52889.1(MYH7):g.11281C>T chr14 22965881 22965882 FHC0137 - X52889.1(MYH7):g.11282G>A chr14 22965882 22965883 FHC0138 - X52889.1(MYH7):g.11281C>A chr14 22965857 22965858 FHC0139 - X52889.1(MYH7):g.11306G>T chr14 22965094 22965095 FHC0140 - X52889.1(MYH7):g.12072C>T chr14 22965087 22965088 FHC0141 - X52889.1(MYH7):g.12079A>G chr14 22965039 22965040 FHC0143 - X52889.1(MYH7):g.12127G>T chr14 22965028 22965029 FHC0144 - X52889.1(MYH7):g.12138G>A chr14 22965019 22965020 FHC0146 - X52889.1(MYH7):g.12147C>T chr14 22965018 22965019 FHC0147 - X52889.1(MYH7):g.12148G>A chr14 22964862 22964863 FHC0150 - X52889.1(MYH7):g.12307C>T chr14 22964862 22964863 FHC0151 - X52889.1(MYH7):g.12307C>G chr14 22964837 22964838 FHC0153 - X52889.1(MYH7):g.12332C>T chr14 22964831 22964832 FHC0154 - X52889.1(MYH7):g.12338G>A chr14 22964821 22964822 FHC0155 - X52889.1(MYH7):g.12348T>G chr14 22964829 22964830 FHC0156 - X52889.1(MYH7):g.12340C>G chr14 22964808 22964809 FHC0157 - X52889.1(MYH7):g.12361G>C chr14 22964808 22964809 FHC0158 - X52889.1(MYH7):g.12361G>T chr14 22964808 22964809 FHC0159 - X52889.1(MYH7):g.12361G>A chr14 22964807 22964808 FHC0160 - X52889.1(MYH7):g.12362G>C chr14 22964451 22964452 FHC0161 - X52889.1(MYH7):g.12707G>A chr14 22957292 22957293 FHC0163 - X52889.1(MYH7):g.19227G>A chr14 22954276 22954277 FHC0164 - X52889.1(MYH7):g.22240A>G chr14 22963960 22963961 FHC0165 - X52889.1(MYH7):g.13198G>A chr14 22964420 22964421 FHC0167 - X52889.1(MYH7):g.12738A>G chr14 22964419 22964420 FHC0168 - X52889.1(MYH7):g.12739C>G chr14 22964408 22964409 FHC0169 - X52889.1(MYH7):g.12750G>A chr14 22964393 22964394 FHC0170 - X52889.1(MYH7):g.12765G>A chr14 22964364 22964365 FHC0171 - X52889.1(MYH7):g.12794G>A chr14 22963960 22963961 FHC0173 - X52889.1(MYH7):g.13198G>C chr14 22963891 22963892 FHC0174 - X52889.1(MYH7):g.13267C>T chr14 22963887 22963888 FHC0175 - X52889.1(MYH7):g.13271G>A chr14 22963888 22963889 FHC0176 - X52889.1(MYH7):g.13270C>T chr14 22963941 22963942 FHC0177 - X52889.1(MYH7):g.13217T>C chr14 22963891 22963892 FHC0178 - X52889.1(MYH7):g.13267C>G chr14 22963866 22963867 FHC0179 - X52889.1(MYH7):g.13292T>A chr14 22963847 22963850 FHC0180 - X52889.1(MYH7):g.13309_13311del chr14 22963196 22963197 FHC0181 - X52889.1(MYH7):g.13968A>G chr14 22963155 22963156 FHC0182 - X52889.1(MYH7):g.14009C>G chr14 22963107 22963108 FHC0183 - X52889.1(MYH7):g.14057G>A chr14 22963098 22963099 FHC0184 - X52889.1(MYH7):g.14066G>A chr14 22963087 22963090 FHC0185 - X52889.1(MYH7):g.14075_14077del chr14 22963089 22963090 FHC0186 - X52889.1(MYH7):g.14075G>A chr14 22963074 22963075 FHC0188 - X52889.1(MYH7):g.14090G>A chr14 22963032 22963033 FHC0190 - X52889.1(MYH7):g.14132G>A chr14 22962995 22962996 FHC0191 - X52889.1(MYH7):g.14169T>G chr14 22950005 22952716 FHC0192 - X52889.1(MYH7):g.23793_26171del chr14 22968318 22968319 FHC0194 - X52889.1(MYH7):g.8856G>A chr14 22968052 22968053 FHC0196 - X52889.1(MYH7):g.9124G>A chr14 22968052 22968053 FHC0197 - X52889.1(MYH7):g.9124G>T chr14 22968127 22968128 FHC0198 - X52889.1(MYH7):g.9049C>T chr14 22968082 22968083 FHC0199 - X52889.1(MYH7):g.9094T>C chr12 109819683 109819684 FHC0201 - X66141.1(MYL2):c.67G>A chr12 109819668 109819669 FHC0202 - X66141.1(MYL2):c.82T>C chr12 109819656 109819657 FHC0203 - X66141.1(MYL2):c.94G>A chr12 109816266 109816267 FHC0206 - X66141.1(MYL2):c.171C>A chr12 109814810 109814811 FHC0211 - X66141.1(MYL2):c.203G>A chr12 109813838 109813839 FHC0214 - X66141.1(MYL2):c.314C>G chr12 109811604 109811605 FHC0230 - X66141.1(MYL2):c.527A>T chr3 46877309 46877310 FHC0320 - M24122.1(MYL3):c.217A>G chr3 46876004 46876005 FHC0330 - M24122.1(MYL3):c.495A>G chr3 46875988 46875989 FHC0335 - M24122.1(MYL3):c.511G>A chr19 60357273 60357274 FHC0392 - X90780.1(TNNI3):g.4745G>A chr19 60357261 60357262 FHC0393 - X90780.1(TNNI3):g.4757C>T chr19 60357226 60357227 FHC0394 - X90780.1(TNNI3):g.4792A>G chr19 60357211 60357212 FHC0395 - X90780.1(TNNI3):g.4807A>G chr19 60359488 60359489 FHC0400 - X90780.1(TNNI3):g.2530G>T chr19 60359418 60359419 FHC0402 - X90780.1(TNNI3):g.2600C>T chr19 60357335 60357336 FHC0404 - X90780.1(TNNI3):g.4683G>A chr19 60357325 60357326 FHC0405 - X90780.1(TNNI3):g.4693C>T chr19 60357288 60357289 FHC0406 - X90780.1(TNNI3):g.4730C>T chr19 60357325 60357326 FHC0407 - X90780.1(TNNI3):g.4693C>G chr19 60357324 60357325 FHC0408 - X90780.1(TNNI3):g.4694G>A chr19 60357274 60357275 FHC0409 - X90780.1(TNNI3):g.4744C>T chr19 60357209 60357212 FHC0410 - X90780.1(TNNI3):g.4807_4809del chr19 60357273 60357274 FHC0411 - X90780.1(TNNI3):g.4745G>C chr19 60357227 60357230 FHC0412 - X90780.1(TNNI3):g.4789_4791del chr19 60355089 60355090 FHC0413 - X90780.1(TNNI3):g.6449G>A chr19 60355077 60355078 FHC0414 - X90780.1(TNNI3):g.6461A>G chr19 60355071 60355072 FHC0415 - X90780.1(TNNI3):g.6467G>A chr19 60355040 60355041 FHC0416 - X90780.1(TNNI3):g.6498G>A chr19 60355049 60355052 FHC0418 - X90780.1(TNNI3):p.S199N chr19 60355039 60355040 FHC0421 - X90780.1(TNNI3):g.6499G>C chr19 60355039 60355040 FHC0422 - X90780.1(TNNI3):g.6499G>A chr19 60355030 60355031 FHC0423 - X90780.1(TNNI3):g.6508A>C chr1 198066450 198066451 FHC0546 - AF004414.1(TNNT2):g.200T>C chr1 198066411 198066412 FHC0547 - AF004414.1(TNNT2):g.239G>A chr1 198066401 198066402 FHC0548 - AF004414.1(TNNT2):g.249A>C chr1 198066422 198066423 FHC0549 - AF004414.1(TNNT2):g.228T>A chr1 198066533 198066534 FHC0550 - AF004414.1(TNNT2):g.119C>T chr1 198066526 198066527 FHC0554 - AF004414.1(TNNT2):g.125C>T chr1 198066494 198066495 FHC0555 - AF004414.1(TNNT2):g.156C>T chr1 198066487 198066490 FHC0565 - AF004414.1(TNNT2):g.161_163del chr1 198066478 198066481 FHC0567 - AF004414.1(TNNT2):g.170_172del chr1 198066539 198066540 FHC0571 - AF004414.1(TNNT2):g.113A>G chr1 198066458 198066459 FHC0573 - AF004414.1(TNNT2):g.192A>T chr1 198066572 198066573 FHC0581 - AF004414.1(TNNT2):g.81G>C chr15 61123347 61123348 FHC0609 + M19713.1(TPM1):c.240G>C chr15 61123351 61123352 FHC0610 + M19713.1(TPM1):c.244C>T chr15 61123372 61123373 FHC0611 + M19713.1(TPM1):c.265A>C chr15 61136279 61136280 FHC0616 + M19713.1(TPM1):c.340T>C chr15 61140142 61140143 FHC0621 + M19713.1(TPM1):c.571T>C chr15 61140150 61140151 FHC0622 + M19713.1(TPM1):c.579G>A chr15 61140166 61140167 FHC0623 + M19713.1(TPM1):c.595A>G chr15 61140166 61140167 FHC0624 + M19713.1(TPM1):c.595A>T chr15 61140181 61140182 FHC0625 + M19713.1(TPM1):c.610T>G chr15 61143384 61143385 FHC0670 + M19713.1(TPM1):c.898T>C chr15 32872890 32872891 FHC0690 - J00071.1(ACTC):g.281G>A chr15 32872020 32872021 FHC0695 - J00071.1(ACTC):g.1146C>G chr2 179476223 179476224 FHC0800 - X90568.1(TTN):c.2221G>T chr11 47329426 47329433 FHC0904 - U91629.1(MYBPC3):g.2376_2382del chr11 47329431 47329432 FHC0905 - U91629.1(MYBPC3):g.2377C>T chr11 47315660 47315661 FHC0955 - U91629.1(MYBPC3):g.16115G>A chr11 47314122 47314123 FHC0960 - U91629.1(MYBPC3):g.17653C>A chr11 47313266 47313267 FHC0970 - U91629.1(MYBPC3):g.18509C>T chr14 22972666 22972667 FHC1010 - X52889.1(MYH7):g.4508G>A chr14 22970862 22970863 FHC1019 - X52889.1(MYH7):g.6300G>A chr14 22970837 22970838 FHC1020 - X52889.1(MYH7):g.6325G>A chr14 22970816 22970817 FHC1021 - X52889.1(MYH7):g.6346C>T chr14 22970686 22970687 FHC1024 - X52889.1(MYH7):g.6475C>G chr14 22969649 22969650 FHC1025 - X52889.1(MYH7):g.7525G>A chr14 22969624 22969625 FHC1026 - X52889.1(MYH7):g.7550A>G chr14 22968910 22968911 FHC1028 - X52889.1(MYH7):g.8266A>G chr14 22968898 22968899 FHC1030 - X52889.1(MYH7):g.8278G>A chr14 22968324 22968325 FHC1032 - X52889.1(MYH7):g.8850G>T chr14 22968303 22968304 FHC1034 - X52889.1(MYH7):g.8871G>A chr14 22968106 22968107 FHC1036 - X52889.1(MYH7):g.9070T>C chr14 22967690 22967691 FHC1040 - X52889.1(MYH7):g.9483A>G chr14 22967679 22967680 FHC1042 - X52889.1(MYH7):g.9494G>A chr14 22967577 22967578 FHC1044 - X52889.1(MYH7):g.9596C>A chr14 22964032 22964033 FHC1050 - X52889.1(MYH7):g.13126A>G chr14 22964432 22964433 FHC1055 - X52889.1(MYH7):g.12726A>T chr14 22964418 22964419 FHC1056 - X52889.1(MYH7):g.12740G>T chr14 22959215 22959216 FHC1060 - X52889.1(MYH7):g.17905T>G chr14 22958967 22958968 FHC1062 - X52889.1(MYH7):g.18153G>C chr14 22957297 22957298 FHC1070 - X52889.1(MYH7):g.19222C>T chr14 22957292 22957293 FHC1072 - X52889.1(MYH7):g.19227G>A chr14 22957283 22957284 FHC1073 - X52889.1(MYH7):g.19236C>T chr14 22954763 22954764 FHC1080 - X52889.1(MYH7):g.21752G>A chr14 22954273 22954274 FHC1090 - X52889.1(MYH7):g.22243G>A chr17 7519233 7519234 TP53_g.13100T>A - X54156.1(TP53):g.13100T>A chr17 7517842 7517843 TP53_g.14489G>T - X54156.1(TP53):g.14489G>T chr17 7519165 7519166 TP53_g.13168C>A - X54156.1(TP53):g.13168C>A chr17 7517770 7517771 TP53_g.14561G>T - X54156.1(TP53):g.14561G>T chr17 7520035 7520036 TP53_g.12300G>A - X54156.1(TP53):g.12300G>A chr17 7519126 7519127 TP53_g.13207C>A - X54156.1(TP53):g.13207C>A chr17 7519203 7519204 TP53_g.13130del - X54156.1(TP53):g.13130del chr17 7519258 7519259 TP53_g.13075G>C - X54156.1(TP53):g.13075G>C chr17 7518274 7518275 TP53_g.14058G>T - X54156.1(TP53):g.14058G>T chr17 7518272 7518273 TP53_g.14060G>T - X54156.1(TP53):g.14060G>T chr17 7519247 7519248 TP53_g.13086A>C - X54156.1(TP53):g.13086A>C chr17 7518337 7518338 TP53_g.13995C>G - X54156.1(TP53):g.13995C>G chr17 7518260 7518261 TP53_g.14072A>G - X54156.1(TP53):g.14072A>G chr17 7517746 7517747 TP53_g.14585C>T - X54156.1(TP53):g.14585C>T chr17 7517576 7517577 TP53_g.14755G>A - X54156.1(TP53):g.14755G>A chr17 7520082 7520083 TP53_g.12253G>T - X54156.1(TP53):g.12253G>T chr17 7519112 7519113 TP53_g.13221del - X54156.1(TP53):g.13221del chr17 7518935 7518936 TP53_g.13398G>T - X54156.1(TP53):g.13398G>T chr17 7518283 7518284 TP53_g.14049C>A - X54156.1(TP53):g.14049C>A chr17 7517782 7517783 TP53_g.14549G>T - X54156.1(TP53):g.14549G>T chr17 7519248 7519249 TP53_g.13085del - X54156.1(TP53):g.13085del chr17 7520130 7520131 TP53_g.12205C>A - X54156.1(TP53):g.12205C>A chr17 7520124 7520125 TP53_g.12211C>T - X54156.1(TP53):g.12211C>T chr17 7519266 7519267 TP53_g.13067del - X54156.1(TP53):g.13067del chr17 7519133 7519134 TP53_g.13200del - X54156.1(TP53):g.13200del chr17 7517878 7517880 TP53_g.14452_14453ins3 - X54156.1(TP53):g.14452_14453ins3 chr17 7517853 7517854 TP53_g.14478T>G - X54156.1(TP53):g.14478T>G chr17 7519250 7519251 TP53_g.13083G>T - X54156.1(TP53):g.13083G>T chr17 7518312 7518313 TP53_g.14020C>A - X54156.1(TP53):g.14020C>A chr17 7517835 7517836 TP53_g.14496C>A - X54156.1(TP53):g.14496C>A chr17 7518199 7518200 TP53_g.14133C>G - X54156.1(TP53):g.14133C>G chr17 7519195 7519196 TP53_g.13138C>T - X54156.1(TP53):g.13138C>T chr17 7519203 7519204 TP53_g.13130C>T - X54156.1(TP53):g.13130C>T chr17 7518284 7518285 TP53_g.14048T>C - X54156.1(TP53):g.14048T>C chr17 7517747 7517748 TP53_g.14584G>A - X54156.1(TP53):g.14584G>A chr17 7517825 7517826 TP53_g.14506G>A - X54156.1(TP53):g.14506G>A chr17 7517885 7517886 TP53_g.14446G>A - X54156.1(TP53):g.14446G>A chr17 7517801 7517802 TP53_g.14530G>C - X54156.1(TP53):g.14530G>C chr17 7519266 7519267 TP53_g.13067C>G - X54156.1(TP53):g.13067C>G chr20 42684905 42684906 ADAbase_D0001:g.29885G>A - D0001:g.29885G>A chr20 42713655 42713656 ADAbase_D0001:g.1135C>T - D0001:g.1135C>T chr20 42685880 42685881 ADAbase_D0001:g.28910G>A - D0001:g.28910G>A chr20 42685880 42685881 ADAbase_D0001:g.28910G>T - D0001:g.28910G>T chr20 42681899 42681900 ADAbase_D0001:g.32891C>T - D0001:g.32891C>T chr20 42685853 42685854 ADAbase_D0001:g.28937C>A - D0001:g.28937C>A chr20 42685811 42685812 ADAbase_D0001:g.28979A>G - D0001:g.28979A>G chr20 42709112 42712361 ADAbase_D0001:g.2430_5678del - D0001:g.2430_5678del chr20 42682329 42682330 ADAbase_D0001:g.32461G>A - D0001:g.32461G>A chr20 42685787 42685788 ADAbase_D0001:g.29003delA - D0001:g.29003delA chr20 42684963 42684964 ADAbase_D0001:g.29827delG - D0001:g.29827delG chr20 42684911 42684912 ADAbase_D0001:g.29879G>A - D0001:g.29879G>A chr20 42684906 42684907 ADAbase_D0001:g.29884C>T - D0001:g.29884C>T chr20 42684863 42684864 ADAbase_D0001:g.29927G>A - D0001:g.29927G>A chr20 42682293 42682294 ADAbase_D0001:g.32497G>A - D0001:g.32497G>A chr20 42682198 42682199 ADAbase_D0001:g.32592C>T - D0001:g.32592C>T chr20 42685884 42685885 ADAbase_D0001:g.28906A>G - D0001:g.28906A>G chr20 42681916 42681917 ADAbase_D0001:g.32874T>A - D0001:g.32874T>A chr20 42681905 42681917 ADAbase_D0001:g.32874_32885delinsA - D0001:g.32874_32885delinsA chr12 8650844 8650863 AICDAbase_D0002:g.6292_6310del - D0002:g.6292_6310del chr12 8650852 8650853 AICDAbase_D0002:g.6302T>C - D0002:g.6302T>C chr12 8649277 8649279 AICDAbase_D0002:g.7876_7877insT - D0002:g.7876_7877insT chr12 8650813 8650814 AICDAbase_D0002:g.6341C>T - D0002:g.6341C>T chr12 8650756 8650757 AICDAbase_D0002:g.6398T>C - D0002:g.6398T>C chr12 8649338 8649339 AICDAbase_D0002:g.7816C>T - D0002:g.7816C>T chr12 8649320 8649329 AICDAbase_D0002:g.7826_7834delTGCTCTTCC - D0002:g.7826_7834delTGCTCTTCC chr12 8649301 8649302 AICDAbase_D0002:g.7853G>A - D0002:g.7853G>A chr12 8649261 8649270 AICDAbase_D0002:g.7885_7893delACCTGGTTC - D0002:g.7885_7893delACCTGGTTC chr12 8649266 8649267 AICDAbase_D0002:g.7888T>C - D0002:g.7888T>C chr12 8649252 8649253 AICDAbase_D0002:g.7902G>A - D0002:g.7902G>A chr12 8649245 8649246 AICDAbase_D0002:g.7909T>C - D0002:g.7909T>C chr12 8649211 8649212 AICDAbase_D0002:g.7943T>G - D0002:g.7943T>G chr12 8649187 8649188 AICDAbase_D0002:g.7967T>C - D0002:g.7967T>C chr12 8649170 8649171 AICDAbase_D0002:g.7984C>T - D0002:g.7984C>T chr12 8648199 8648200 AICDAbase_D0002:g.8956delC - D0002:g.8956delC chr12 8649169 8649170 AICDAbase_D0002:g.7985G>A - D0002:g.7985G>A chr12 8649097 8649098 AICDAbase_D0002:g.8057T>A - D0002:g.8057T>A chr12 8649089 8649090 AICDAbase_D0002:g.8065A>G - D0002:g.8065A>G chr12 8648771 8648772 AICDAbase_D0002:g.8384C>A - D0002:g.8384C>A chr12 8648760 8648761 AICDAbase_D0002:g.8395T>C - D0002:g.8395T>C chr12 8648690 8648691 AICDAbase_D0002:g.8465A>C - D0002:g.8465A>C chr12 8648175 8648176 AICDAbase_D0002:g.8980C>T - D0002:g.8980C>T chr12 8650726 8650727 AICDAbase_D0002:g.6428G>T - D0002:g.6428G>T chr12 8648201 8648202 AICDAbase_D0002:g.8954A>G - D0002:g.8954A>G chr12 8648668 8648669 AICDAbase_D0002:g.8487G>C - D0002:g.8487G>C chr21 44530317 44530318 AIREbase_D0003:g.4707A>T + D0003:g.4707A>T chr21 44534083 44534084 AIREbase_D0003:g.8473C>T + D0003:g.8473C>T chr21 44530359 44530360 AIREbase_D0003:g.4749C>T + D0003:g.4749C>T chr21 44530360 44530361 AIREbase_D0003:g.4750G>T + D0003:g.4750G>T chr21 44535492 44535505 AIREbase_D0003:g.9882_9894del + D0003:g.9882_9894del chr21 44530359 44530361 AIREbase_D0003:g.4749_4750ins + D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC chr21 44530363 44530364 AIREbase_D0003:g.4753C>T + D0003:g.4753C>T chr21 44530966 44530967 AIREbase_D0003:g.5356T>A + D0003:g.5356T>A chr21 44530380 44530386 AIREbase_D0003:g.4770_4775delGTGGAC + D0003:g.4770_4775delGTGGAC chr21 44530399 44530400 AIREbase_D0003:g.4789T>C + D0003:g.4789T>C chr21 44537456 44537457 AIREbase_D0003:g.11846delC + D0003:g.11846delC chr21 44530402 44530403 AIREbase_D0003:g.4792T>C + D0003:g.4792T>C chr21 44537302 44537303 AIREbase_D0003:g.11692G>C + D0003:g.11692G>C chr21 44530925 44530961 AIREbase_D0003:g.5315_5350del + D0003:g.5315_5350del chr21 44530942 44530944 AIREbase_D0003:g.5332_5333insCAGG + D0003:g.5332_5333insCAGG chr21 44530964 44530965 AIREbase_D0003:g.5354T>C + D0003:g.5354T>C chr21 44535525 44535526 AIREbase_D0003:g.9915G>T + D0003:g.9915G>T chr21 44530966 44530967 AIREbase_D0003:g.5356T>C + D0003:g.5356T>C chr21 44536688 44536689 AIREbase_D0003:g.11078C>T + D0003:g.11078C>T chr21 44534069 44534070 AIREbase_D0003:g.8459C>T + D0003:g.8459C>T chr21 44530981 44530982 AIREbase_D0003:g.5371A>G + D0003:g.5371A>G chr21 44531003 44531004 AIREbase_D0003:g.5393A>G + D0003:g.5393A>G chr21 44531012 44531013 AIREbase_D0003:g.5402T>G + D0003:g.5402T>G chr21 44531395 44531396 AIREbase_D0003:g.5785C>T + D0003:g.5785C>T chr21 44531880 44531881 AIREbase_D0003:g.6270C>T + D0003:g.6270C>T chr21 44537302 44537303 AIREbase_D0003:g.11692G>A + D0003:g.11692G>A chr21 44532656 44532657 AIREbase_D0003:g.7046delG + D0003:g.7046delG chr21 44532723 44532724 AIREbase_D0003:g.7113C>T + D0003:g.7113C>T chr21 44533996 44533997 AIREbase_D0003:g.8386G>T + D0003:g.8386G>T chr21 44542037 44542038 AIREbase_D0003:g.16426A>T + D0003:g.16426A>T chr21 44537449 44537451 AIREbase_D0003:g.11839_11840insA + D0003:g.11839_11840insA chr21 44535502 44535503 AIREbase_D0003:g.9892C>T + D0003:g.9892C>T chr21 44533960 44533963 AIREbase_D0003:g.8350_8352delCTC + D0003:g.8350_8352delCTC chr21 44530449 44530450 AIREbase_D0003:g.4839G>C + D0003:g.4839G>C chr21 44530453 44530454 AIREbase_D0003:g.4843delG + D0003:g.4843delG chr21 44535456 44535457 AIREbase_D0003:g.9846delT + D0003:g.9846delT chr21 44535426 44535427 AIREbase_D0003:g.9816G>A + D0003:g.9816G>A chr21 44535433 44535434 AIREbase_D0003:g.9823G>C + D0003:g.9823G>C chr21 44537471 44537472 AIREbase_D0003:g.11861delC + D0003:g.11861delC chr21 44538116 44538117 AIREbase_D0003:g.12506delinsAC + D0003:g.12506delinsAC chr21 44535494 44535496 AIREbase_D0003:g.9884_9885insCCTG + D0003:g.9884_9885insCCTG chr21 44536684 44536686 AIREbase_D0003:g.11074_11075dupCCCGG + D0003:g.11074_11075dupCCCGG chr21 44540702 44540703 AIREbase_D0003:g.15091delG + D0003:g.15091delG chr21 44537310 44537312 AIREbase_D0003:g.11700_11701insC + D0003:g.11700_11701insC chr21 44538114 44538116 AIREbase_D0003:g.12504_12505insAC + D0003:g.12504_12505insAC chr21 44538164 44538165 AIREbase_D0003:g.12554delinsTT + D0003:g.12554delinsTT chr21 44538221 44538222 AIREbase_D0003:g.12611G>A + D0003:g.12611G>A chr21 44542015 44542016 AIREbase_D0003:g.16404C>T + D0003:g.16404C>T chr21 44531445 44531446 AIREbase_D0003:g.5835T>C + D0003:g.5835T>C chr5 77513124 77513125 AP3B1base_D0103:g.114127A>T - D0103:g.114127A>T chr5 77507394 77507396 AP3B1base_D0103:g.119856_119857delinsTATCAATATC - D0103:g.119856_119857delinsTATCAATATC chr5 77460748 77460749 AP3B1base_D0103:g.166503dupA - D0103:g.166503dupA chr5 77460798 77460799 AP3B1base_AP3B1_DNA:g.166453T>G - AP3B1_DNA:g.166453T>G chr5 77472847 77472848 AP3B1base_AP3B1_DNA:g.154404C>T - AP3B1_DNA:g.154404C>T chr5 77447807 77447808 AP3B1base_AP3B1_DNA:g.179444G>T - AP3B1_DNA:g.179444G>T chr5 77487831 77487832 AP3B1base_AP3B1_DNA:g.139420T>C - AP3B1_DNA:g.139420T>C chr5 77472753 77472754 AP3B1base_AP3B1_DNA:g.154498dupG - AP3B1_DNA:g.154498dupG chr5 77471801 77479973 AP3B1base_D0103:g.147279_155450del - D0103:g.147279_155450del chrX 122745338 122745339 BIRC4base_D0120:g.26757delC + D0120:g.26757delC chrX 122745398 122745399 BIRC4base_D0120:g.26817G>T + D0120:g.26817G>T chr15 89093776 89093777 BLMbase_D0004:g.33139delA + D0004:g.33139delA chr15 89093812 89093813 BLMbase_D0004:g.33175C>A + D0004:g.33175C>A chr15 89138544 89138545 BLMbase_D0004:g.77907G>C + D0004:g.77907G>C chr15 89094058 89094061 BLMbase_D0004:g.33421_33423delCAA + D0004:g.33421_33423delCAA chr15 89105150 89105151 BLMbase_D0004:g.44513dupA + D0004:g.44513dupA chr15 89107391 89107392 BLMbase_D0004:g.46754G>T + D0004:g.46754G>T chr15 89094082 89094083 BLMbase_D0004:g.33445dupT + D0004:g.33445dupT chr15 89094273 89094275 BLMbase_D0004:g.33636_33637delCT + D0004:g.33636_33637delCT chr15 89096034 89096035 BLMbase_D0004:g.35397A>T + D0004:g.35397A>T chr15 89104515 89104516 BLMbase_D0004:g.43878A>G + D0004:g.43878A>G chr15 89099075 89099080 BLMbase_D0004:g.38438_38442delAAAGA + D0004:g.38438_38442delAAAGA chr15 89138408 89138409 BLMbase_D0004:g.77771delG + D0004:g.77771delG chr15 89105248 89105249 BLMbase_D0004:g.44611C>T + D0004:g.44611C>T chr15 89105307 89105308 BLMbase_D0004:g.44670G>A + D0004:g.44670G>A chr15 89104382 89104383 BLMbase_D0004:g.43745A>T + D0004:g.43745A>T chr15 89107249 89107250 BLMbase_D0004:g.46612C>T + D0004:g.46612C>T chr15 89104890 89104891 BLMbase_D0004:g.44253G>A + D0004:g.44253G>A chr15 89104952 89104953 BLMbase_D0004:g.44315delC + D0004:g.44315delC chr15 89105234 89105235 BLMbase_D0004:g.44597T>A + D0004:g.44597T>A chr15 89105493 89105494 BLMbase_D0004:g.44856G>A + D0004:g.44856G>A chr15 89105390 89105391 BLMbase_D0004:g.44753C>A + D0004:g.44753C>A chr15 89111199 89111201 BLMbase_D0004:g.50562_50563insAAAT + D0004:g.50562_50563insAAAT chr15 89129216 89129217 BLMbase_D0004:g.68579C>T + D0004:g.68579C>T chr15 89142435 89142436 BLMbase_D0004:g.81798dupA + D0004:g.81798dupA chr15 89109552 89109553 BLMbase_D0004:g.48915C>T + D0004:g.48915C>T chr15 89134981 89134982 BLMbase_D0004:g.74344delC + D0004:g.74344delC chr15 89142473 89142474 BLMbase_D0004:g.81836delT + D0004:g.81836delT chr15 89129186 89129187 BLMbase_D0004:g.68549C>T + D0004:g.68549C>T chr15 89107284 89107285 BLMbase_D0004:g.46647dupG + D0004:g.46647dupG chr15 89107331 89107332 BLMbase_D0004:g.46694A>G + D0004:g.46694A>G chr15 89104378 89104379 BLMbase_D0004:g.43741A>G + D0004:g.43741A>G chr15 89138571 89138572 BLMbase_D0004:g.77934A>T + D0004:g.77934A>T chr15 89147870 89147872 BLMbase_D0004:g.87233_87234delTT + D0004:g.87233_87234delTT chr15 89138593 89138594 BLMbase_D0004:g.77956A>T + D0004:g.77956A>T chr15 89111156 89111162 BLMbase_D0004:g.50519_50524delinsTAGATTC + D0004:g.50519_50524delinsTAGATTC chr15 89138539 89138540 BLMbase_D0004:g.77902delT + D0004:g.77902delT chr15 89129163 89129164 BLMbase_D0004:g.68526G>A + D0004:g.68526G>A chr15 89091724 89091725 BLMbase_D0004:g.31087G>T + D0004:g.31087G>T chr15 89113671 89113672 BLMbase_D0004:g.53034dupT + D0004:g.53034dupT chr15 89147905 89147906 BLMbase_D0004:g.87268T>A + D0004:g.87268T>A chr15 89113770 89113772 BLMbase_D0004:g.53133_53134delAG + D0004:g.53133_53134delAG chr15 89138577 89138578 BLMbase_D0004:g.77940G>A + D0004:g.77940G>A chr15 89113752 89113753 BLMbase_D0004:g.53115dupA + D0004:g.53115dupA chr15 89148522 89148523 BLMbase_D0004:g.87885delA + D0004:g.87885delA chr15 89127142 89127143 BLMbase_D0004:g.66505G>A + D0004:g.66505G>A chr15 89147810 89147811 BLMbase_D0004:g.87173C>T + D0004:g.87173C>T chr15 89129193 89129194 BLMbase_D0004:g.68556G>A + D0004:g.68556G>A chr15 89134913 89134914 BLMbase_D0004:g.74276G>T + D0004:g.74276G>T chr15 89134945 89134946 BLMbase_D0004:g.74308C>T + D0004:g.74308C>T chr15 89138498 89138499 BLMbase_D0004:g.77861C>T + D0004:g.77861C>T chr15 89142467 89142469 BLMbase_D0004:g.81830_81831insT + D0004:g.81830_81831insT chr15 89142490 89142491 BLMbase_D0004:g.81853C>G + D0004:g.81853C>G chr15 89148428 89148429 BLMbase_D0004:g.87791delG + D0004:g.87791delG chr15 89148568 89148569 BLMbase_D0004:g.87931dupA + D0004:g.87931dupA chr15 89153465 89153466 BLMbase_D0004:g.92828C>T + D0004:g.92828C>T chr15 89109649 89109650 BLMbase_D0004:g.49012T>G + D0004:g.49012T>G chr15 89113466 89113467 BLMbase_D0004:g.52829T>G + D0004:g.52829T>G chr15 89147954 89147955 BLMbase_D0004:g.87317G>A + D0004:g.87317G>A chr15 89113249 89121240 BLMbase_D0004:g.52612_60602del + D0004:g.52612_60602del chr15 89133805 89135388 BLMbase_D0004:g.73168_74750del + D0004:g.73168_74750del chr10 98021095 98021096 BLNKbase_D0005:g.10199A>T - D0005:g.10199A>T chrX 100436414 100436415 BTKbase_U78027.1:g.46199G>T - U78027.1:g.46199G>T chrX 100436415 100436416 BTKbase_U78027.1:g.46198T>C - U78027.1:g.46198T>C chrX 100436416 100436417 BTKbase_U78027.1:g.46197A>G - U78027.1:g.46197A>G chrX 100436390 100436403 BTKbase_U78027.1:g.46211_46223del - U78027.1:g.46211_46223del chrX 100436405 100436406 BTKbase_U78027.1:g.46208dupG - U78027.1:g.46208dupG chrX 100436378 100436404 BTKbase_U78027.1:g.46210_46235del - U78027.1:g.46210_46235del chrX 100436385 100436386 BTKbase_U78027.1:g.46228T>C - U78027.1:g.46228T>C chrX 100436387 100436388 BTKbase_U78027.1:g.46226dupT - U78027.1:g.46226dupT chrX 100436382 100436383 BTKbase_U78027.1:g.46231A>G - U78027.1:g.46231A>G chrX 100436380 100436381 BTKbase_U78027.1:g.46233C>T - U78027.1:g.46233C>T chrX 100436376 100436377 BTKbase_U78027.1:g.46237C>T - U78027.1:g.46237C>T chrX 100436374 100436377 BTKbase_U78027.1:g.46237_46239delCCC - U78027.1:g.46237_46239delCCC chrX 100436374 100436375 BTKbase_U78027.1:g.46239C>T - U78027.1:g.46239C>T chrX 100436368 100436369 BTKbase_U78027.1:g.46245A>G - U78027.1:g.46245A>G chrX 100436362 100436363 BTKbase_U78027.1:g.46251A>G - U78027.1:g.46251A>G chrX 100436362 100436363 BTKbase_U78027.1:g.46251A>T - U78027.1:g.46251A>T chrX 100436355 100436356 BTKbase_U78027.1:g.46258C>A - U78027.1:g.46258C>A chrX 100436354 100436355 BTKbase_U78027.1:g.46259delA - U78027.1:g.46259delA chrX 100436343 100436344 BTKbase_U78027.1:g.46270T>C - U78027.1:g.46270T>C chrX 100436337 100436338 BTKbase_U78027.1:g.46276A>G - U78027.1:g.46276A>G chrX 100435703 100435704 BTKbase_U78027.1:g.46910C>T - U78027.1:g.46910C>T chrX 100421881 100421882 BTKbase_U78027.1:g.60726A>G - U78027.1:g.60726A>G chrX 100421874 100421875 BTKbase_U78027.1:g.60733C>T - U78027.1:g.60733C>T chrX 100421819 100421820 BTKbase_U78027.1:g.60788T>C - U78027.1:g.60788T>C chrX 100436335 100436336 BTKbase_U78027.1:g.46278C>T - U78027.1:g.46278C>T chrX 100436333 100436334 BTKbase_U78027.1:g.46280C>T - U78027.1:g.46280C>T chrX 100436334 100436335 BTKbase_U78027.1:g.46279G>A - U78027.1:g.46279G>A chrX 100436334 100436335 BTKbase_U78027.1:g.46279G>T - U78027.1:g.46279G>T chrX 100436334 100436335 BTKbase_U78027.1:g.46279G>C - U78027.1:g.46279G>C chrX 100436335 100436336 BTKbase_U78027.1:g.46278C>A - U78027.1:g.46278C>A chrX 100436325 100436326 BTKbase_U78027.1:g.46288T>C - U78027.1:g.46288T>C chrX 100436322 100436323 BTKbase_U78027.1:g.46291T>C - U78027.1:g.46291T>C chrX 100436322 100436323 BTKbase_U78027.1:g.46291T>G - U78027.1:g.46291T>G chrX 100436319 100436320 BTKbase_U78027.1:g.46294C>T - U78027.1:g.46294C>T chrX 100436320 100436321 BTKbase_U78027.1:g.46293A>C - U78027.1:g.46293A>C chrX 100436307 100436309 BTKbase_U78027.1:g.46305_46306delCT - U78027.1:g.46305_46306delCT chrX 100436301 100436302 BTKbase_U78027.1:g.46312A>G - U78027.1:g.46312A>G chrX 100436301 100436302 BTKbase_U78027.1:g.46312A>C - U78027.1:g.46312A>C chrX 100436300 100436301 BTKbase_U78027.1:g.46313C>A - U78027.1:g.46313C>A chrX 100436298 100436299 BTKbase_U78027.1:g.46315A>G - U78027.1:g.46315A>G chrX 100436299 100436300 BTKbase_U78027.1:g.46314T>A - U78027.1:g.46314T>A chrX 100436276 100436299 BTKbase_U78027.1:g.46315_46337del - U78027.1:g.46315_46337del chrX 100436290 100436292 BTKbase_U78027.1:g.46322_46323insA - U78027.1:g.46322_46323insA chrX 100436278 100436279 BTKbase_U78027.1:g.46335delG - U78027.1:g.46335delG chrX 100436276 100436277 BTKbase_U78027.1:g.46337delG - U78027.1:g.46337delG chrX 100435761 100435767 BTKbase_U78027.1:g.46847_46852delAGAAGA - U78027.1:g.46847_46852delAGAAGA chrX 100435762 100435767 BTKbase_U78027.1:g.46847_46851delAGAAG - U78027.1:g.46847_46851delAGAAG chrX 100435765 100435767 BTKbase_U78027.1:g.46847_46848delAG - U78027.1:g.46847_46848delAG chrX 100435752 100435753 BTKbase_U78027.1:g.46861delG - U78027.1:g.46861delG chrX 100435755 100435756 BTKbase_U78027.1:g.46858dupT - U78027.1:g.46858dupT chrX 100435749 100435750 BTKbase_U78027.1:g.46864delG - U78027.1:g.46864delG chrX 100421861 100421862 BTKbase_U78027.1:g.60746G>T - U78027.1:g.60746G>T chrX 100435748 100435749 BTKbase_U78027.1:g.46865delG - U78027.1:g.46865delG chrX 100435741 100435742 BTKbase_U78027.1:g.46872T>C - U78027.1:g.46872T>C chrX 100435736 100435738 BTKbase_U78027.1:g.46876_46877delTG - U78027.1:g.46876_46877delTG chrX 100435734 100435735 BTKbase_U78027.1:g.46879dupT - U78027.1:g.46879dupT chrX 100435730 100435733 BTKbase_U78027.1:g.46881_46883delAGA - U78027.1:g.46881_46883delAGA chrX 100435728 100435731 BTKbase_U78027.1:g.46883_46885delAAG - U78027.1:g.46883_46885delAAG chrX 100435726 100435727 BTKbase_U78027.1:g.46887T>A - U78027.1:g.46887T>A chrX 100435726 100435727 BTKbase_U78027.1:g.46887T>C - U78027.1:g.46887T>C chrX 100435724 100435725 BTKbase_U78027.1:g.46889delA - U78027.1:g.46889delA chrX 100435717 100435718 BTKbase_U78027.1:g.46896T>A - U78027.1:g.46896T>A chrX 100435718 100435719 BTKbase_U78027.1:g.46895G>T - U78027.1:g.46895G>T chrX 100435709 100435711 BTKbase_U78027.1:g.46903_46904delAG - U78027.1:g.46903_46904delAG chrX 100435693 100435694 BTKbase_U78027.1:g.46920delA - U78027.1:g.46920delA chrX 100435693 100435695 BTKbase_U78027.1:g.46919_46920delinsT - U78027.1:g.46919_46920delinsT chrX 100435693 100435694 BTKbase_U78027.1:g.46920dupA - U78027.1:g.46920dupA chrX 100435679 100435683 BTKbase_U78027.1:g.46931_46934delGAAA - U78027.1:g.46931_46934delGAAA chrX 100435676 100435677 BTKbase_U78027.1:g.46937C>T - U78027.1:g.46937C>T chrX 100432829 100432834 BTKbase_U78027.1:g.49781_49785delAGAAG - U78027.1:g.49781_49785delAGAAG chrX 100432805 100432806 BTKbase_U78027.1:g.49809delA - U78027.1:g.49809delA chrX 100432804 100432806 BTKbase_U78027.1:g.49809_49810dupAAATGGA - U78027.1:g.49809_49810dupAAATGGA chrX 100432803 100432804 BTKbase_U78027.1:g.49811C>T - U78027.1:g.49811C>T chrX 100432782 100432783 BTKbase_U78027.1:g.49832T>G - U78027.1:g.49832T>G chrX 100432766 100432767 BTKbase_U78027.1:g.49848A>G - U78027.1:g.49848A>G chrX 100431210 100431212 BTKbase_U78027.1:g.51403_51404delGT - U78027.1:g.51403_51404delGT chrX 100431210 100431211 BTKbase_U78027.1:g.51404delT - U78027.1:g.51404delT chrX 100431208 100431209 BTKbase_U78027.1:g.51406delG - U78027.1:g.51406delG chrX 100431202 100431203 BTKbase_U78027.1:g.51412delG - U78027.1:g.51412delG chrX 100431189 100431190 BTKbase_U78027.1:g.51425T>G - U78027.1:g.51425T>G chrX 100431187 100431188 BTKbase_U78027.1:g.51427T>C - U78027.1:g.51427T>C chrX 100431185 100431186 BTKbase_U78027.1:g.51429C>A - U78027.1:g.51429C>A chrX 100431185 100431186 BTKbase_U78027.1:g.51429C>G - U78027.1:g.51429C>G chrX 100431183 100431184 BTKbase_U78027.1:g.51431T>A - U78027.1:g.51431T>A chrX 100431178 100431181 BTKbase_U78027.1:g.51434_51436delTCT - U78027.1:g.51434_51436delTCT chrX 100431179 100431181 BTKbase_U78027.1:g.51434_51435delinsGA - U78027.1:g.51434_51435delinsGA chrX 100431174 100431182 BTKbase_U78027.1:g.51433_51440delTTCTCCCC - U78027.1:g.51433_51440delTTCTCCCC chrX 100431177 100431178 BTKbase_U78027.1:g.51437C>T - U78027.1:g.51437C>T chrX 100431172 100431173 BTKbase_U78027.1:g.51442A>C - U78027.1:g.51442A>C chrX 100431149 100431150 BTKbase_U78027.1:g.51465G>T - U78027.1:g.51465G>T chrX 100431150 100431151 BTKbase_U78027.1:g.51464G>A - U78027.1:g.51464G>A chrX 100431149 100431150 BTKbase_U78027.1:g.51465G>A - U78027.1:g.51465G>A chrX 100431147 100431149 BTKbase_U78027.1:g.51466_51467ins47 - U78027.1:g.51466_51467ins47 chrX 100431140 100431141 BTKbase_U78027.1:g.51474G>C - U78027.1:g.51474G>C chrX 100431133 100431134 BTKbase_U78027.1:g.51481delA - U78027.1:g.51481delA chrX 100431136 100431137 BTKbase_U78027.1:g.51478delA - U78027.1:g.51478delA chrX 100421713 100421714 BTKbase_U78027.1:g.60894C>T - U78027.1:g.60894C>T chrX 100423816 100423817 BTKbase_U78027.1:g.58791delC - U78027.1:g.58791delC chrX 100423811 100423812 BTKbase_U78027.1:g.58796C>A - U78027.1:g.58796C>A chrX 100423811 100423812 BTKbase_U78027.1:g.58796delC - U78027.1:g.58796delC chrX 100423799 100423801 BTKbase_U78027.1:g.58807_58808dupACAGTGATCT - U78027.1:g.58807_58808dupACAGTGATCT chrX 100423787 100423788 BTKbase_U78027.1:g.58820T>A - U78027.1:g.58820T>A chrX 100423787 100423788 BTKbase_U78027.1:g.58820T>G - U78027.1:g.58820T>G chrX 100423782 100423783 BTKbase_U78027.1:g.58825delC - U78027.1:g.58825delC chrX 100423778 100423779 BTKbase_U78027.1:g.58829C>A - U78027.1:g.58829C>A chrX 100423772 100423773 BTKbase_U78027.1:g.58835G>A - U78027.1:g.58835G>A chrX 100423768 100423772 BTKbase_U78027.1:g.58836_58839delATCG - U78027.1:g.58836_58839delATCG chrX 100423763 100423764 BTKbase_U78027.1:g.58844dupG - U78027.1:g.58844dupG chrX 100423753 100423754 BTKbase_U78027.1:g.58854T>G - U78027.1:g.58854T>G chrX 100423752 100423753 BTKbase_U78027.1:g.58855G>C - U78027.1:g.58855G>C chrX 100423752 100423753 BTKbase_U78027.1:g.58855G>A - U78027.1:g.58855G>A chrX 100423750 100423751 BTKbase_U78027.1:g.58857T>G - U78027.1:g.58857T>G chrX 100423750 100423751 BTKbase_U78027.1:g.58857T>C - U78027.1:g.58857T>C chrX 100423749 100423750 BTKbase_U78027.1:g.58858G>A - U78027.1:g.58858G>A chrX 100423743 100423744 BTKbase_U78027.1:g.58864dupA - U78027.1:g.58864dupA chrX 100423738 100423742 BTKbase_U78027.1:g.58866_58869delACAG - U78027.1:g.58866_58869delACAG chrX 100423735 100423737 BTKbase_U78027.1:g.58871_58872insT - U78027.1:g.58871_58872insT chrX 100423731 100423732 BTKbase_U78027.1:g.58876dupA - U78027.1:g.58876dupA chrX 100423719 100423720 BTKbase_U78027.1:g.58888G>A - U78027.1:g.58888G>A chrX 100423717 100423718 BTKbase_U78027.1:g.58890C>T - U78027.1:g.58890C>T chrX 100423702 100423704 BTKbase_U78027.1:g.58904_58905insG - U78027.1:g.58904_58905insG chrX 100423697 100423702 BTKbase_U78027.1:g.58906_58910delGGAAT - U78027.1:g.58906_58910delGGAAT chrX 100423700 100423701 BTKbase_U78027.1:g.58907dupG - U78027.1:g.58907dupG chrX 100423369 100423370 BTKbase_U78027.1:g.59238dupT - U78027.1:g.59238dupT chrX 100423347 100423348 BTKbase_U78027.1:g.59260delG - U78027.1:g.59260delG chrX 100423343 100423344 BTKbase_U78027.1:g.59264A>C - U78027.1:g.59264A>C chrX 100423335 100423337 BTKbase_U78027.1:g.59271_59272delinsC - U78027.1:g.59271_59272delinsC chrX 100423341 100423342 BTKbase_U78027.1:g.59266delA - U78027.1:g.59266delA chrX 100423335 100423337 BTKbase_U78027.1:g.59271_59272delinsT - U78027.1:g.59271_59272delinsT chrX 100423336 100423337 BTKbase_U78027.1:g.59271dupA - U78027.1:g.59271dupA chrX 100423329 100423333 BTKbase_U78027.1:g.59275_59278delTCTT - U78027.1:g.59275_59278delTCTT chrX 100423328 100423329 BTKbase_U78027.1:g.59279delC - U78027.1:g.59279delC chrX 100423316 100423317 BTKbase_U78027.1:g.59291G>T - U78027.1:g.59291G>T chrX 100423307 100423308 BTKbase_U78027.1:g.59300C>T - U78027.1:g.59300C>T chrX 100421887 100421889 BTKbase_U78027.1:g.60719_60720dupCTACATAG - U78027.1:g.60719_60720dupCTACATAG chrX 100421868 100421869 BTKbase_U78027.1:g.60739delC - U78027.1:g.60739delC chrX 100421866 100421869 BTKbase_U78027.1:g.60739_60741delinsTGGTG - U78027.1:g.60739_60741delinsTGGTG chrX 100421863 100421865 BTKbase_U78027.1:g.60743_60744delTG - U78027.1:g.60743_60744delTG chrX 100421831 100421835 BTKbase_U78027.1:g.60773_60776delTGAG - U78027.1:g.60773_60776delTGAG chrX 100421856 100421857 BTKbase_U78027.1:g.60751delC - U78027.1:g.60751delC chrX 100421835 100421836 BTKbase_U78027.1:g.60772delG - U78027.1:g.60772delG chrX 100421833 100421835 BTKbase_U78027.1:g.60773_60774delTG - U78027.1:g.60773_60774delTG chrX 100421700 100421836 BTKbase_U78027.1:g.60772_60907del - U78027.1:g.60772_60907del chrX 100421824 100421825 BTKbase_U78027.1:g.60783delA - U78027.1:g.60783delA chrX 100421823 100421824 BTKbase_U78027.1:g.60784delA - U78027.1:g.60784delA chrX 100421821 100421822 BTKbase_U78027.1:g.60786delG - U78027.1:g.60786delG chrX 100421815 100421821 BTKbase_U78027.1:g.60787_60792delinsCC - U78027.1:g.60787_60792delinsCC chrX 100421807 100421808 BTKbase_U78027.1:g.60800T>G - U78027.1:g.60800T>G chrX 100421805 100421806 BTKbase_U78027.1:g.60802delA - U78027.1:g.60802delA chrX 100421794 100421795 BTKbase_U78027.1:g.60813delinsGT - U78027.1:g.60813delinsGT chrX 100421776 100421777 BTKbase_U78027.1:g.60831C>T - U78027.1:g.60831C>T chrX 100421763 100421767 BTKbase_U78027.1:g.60841_60844delAGGG - U78027.1:g.60841_60844delAGGG chrX 100421762 100421763 BTKbase_U78027.1:g.60845delT - U78027.1:g.60845delT chrX 100421761 100421762 BTKbase_U78027.1:g.60846delG - U78027.1:g.60846delG chrX 100421758 100421759 BTKbase_U78027.1:g.60849G>T - U78027.1:g.60849G>T chrX 100421750 100421751 BTKbase_U78027.1:g.60857dupT - U78027.1:g.60857dupT chrX 100421746 100421747 BTKbase_U78027.1:g.60861delT - U78027.1:g.60861delT chrX 100421745 100421746 BTKbase_U78027.1:g.60862T>A - U78027.1:g.60862T>A chrX 100421737 100421738 BTKbase_U78027.1:g.60870delA - U78027.1:g.60870delA chrX 100421736 100421737 BTKbase_U78027.1:g.60871delG - U78027.1:g.60871delG chrX 100421730 100421731 BTKbase_U78027.1:g.60877T>A - U78027.1:g.60877T>A chrX 100421723 100421724 BTKbase_U78027.1:g.60884G>A - U78027.1:g.60884G>A chrX 100421721 100421722 BTKbase_U78027.1:g.60886G>A - U78027.1:g.60886G>A chrX 100421720 100421721 BTKbase_U78027.1:g.60887G>A - U78027.1:g.60887G>A chrX 100421281 100421282 BTKbase_U78027.1:g.61326C>T - U78027.1:g.61326C>T chrX 100421278 100421279 BTKbase_U78027.1:g.61329delinsTTA - U78027.1:g.61329delinsTTA chrX 100421256 100421257 BTKbase_U78027.1:g.61351delA - U78027.1:g.61351delA chrX 100421250 100421251 BTKbase_U78027.1:g.61357delC - U78027.1:g.61357delC chrX 100421230 100421231 BTKbase_U78027.1:g.61377G>T - U78027.1:g.61377G>T chrX 100421221 100421222 BTKbase_U78027.1:g.61386G>T - U78027.1:g.61386G>T chrX 100421218 100421222 BTKbase_U78027.1:g.61386_61389delGAGT - U78027.1:g.61386_61389delGAGT chrX 100420476 100420477 BTKbase_U78027.1:g.62131G>A - U78027.1:g.62131G>A chrX 100420465 100420466 BTKbase_U78027.1:g.62142delA - U78027.1:g.62142delA chrX 100420462 100420464 BTKbase_U78027.1:g.62144_62145delAT - U78027.1:g.62144_62145delAT chrX 100420456 100420457 BTKbase_U78027.1:g.62151G>A - U78027.1:g.62151G>A chrX 100420457 100420458 BTKbase_U78027.1:g.62150C>T - U78027.1:g.62150C>T chrX 100420454 100420458 BTKbase_U78027.1:g.62150_62153delCGGA - U78027.1:g.62150_62153delCGGA chrX 100420442 100420443 BTKbase_U78027.1:g.62165C>T - U78027.1:g.62165C>T chrX 100420435 100420436 BTKbase_U78027.1:g.62172T>C - U78027.1:g.62172T>C chrX 100420434 100420435 BTKbase_U78027.1:g.62173delA - U78027.1:g.62173delA chrX 100420430 100420431 BTKbase_U78027.1:g.62177C>T - U78027.1:g.62177C>T chrX 100419749 100419829 BTKbase_U78027.1:g.62779_62858del - U78027.1:g.62779_62858del chrX 100419820 100419823 BTKbase_U78027.1:g.62785_62787delGAA - U78027.1:g.62785_62787delGAA chrX 100419818 100419819 BTKbase_U78027.1:g.62789G>A - U78027.1:g.62789G>A chrX 100419819 100419820 BTKbase_U78027.1:g.62788G>A - U78027.1:g.62788G>A chrX 100419818 100419821 BTKbase_U78027.1:g.62787_62789delAGG - U78027.1:g.62787_62789delAGG chrX 100419815 100419818 BTKbase_U78027.1:g.62790_62792delAGG - U78027.1:g.62790_62792delAGG chrX 100419804 100419805 BTKbase_U78027.1:g.62803A>G - U78027.1:g.62803A>G chrX 100419803 100419804 BTKbase_U78027.1:g.62804G>A - U78027.1:g.62804G>A chrX 100419802 100419803 BTKbase_U78027.1:g.62805A>G - U78027.1:g.62805A>G chrX 100419803 100419804 BTKbase_U78027.1:g.62804G>C - U78027.1:g.62804G>C chrX 100419799 100419800 BTKbase_U78027.1:g.62808C>G - U78027.1:g.62808C>G chrX 100419800 100419802 BTKbase_U78027.1:g.62806_62807delGA - U78027.1:g.62806_62807delGA chrX 100419786 100419787 BTKbase_U78027.1:g.62821delG - U78027.1:g.62821delG chrX 100419781 100419782 BTKbase_U78027.1:g.62826A>G - U78027.1:g.62826A>G chrX 100419781 100419782 BTKbase_U78027.1:g.62826delA - U78027.1:g.62826delA chrX 100419778 100419779 BTKbase_U78027.1:g.62829T>G - U78027.1:g.62829T>G chrX 100419775 100419777 BTKbase_U78027.1:g.62831_62832delCA - U78027.1:g.62831_62832delCA chrX 100419770 100419771 BTKbase_U78027.1:g.62837C>T - U78027.1:g.62837C>T chrX 100419771 100419772 BTKbase_U78027.1:g.62836T>C - U78027.1:g.62836T>C chrX 100419767 100419768 BTKbase_U78027.1:g.62840T>C - U78027.1:g.62840T>C chrX 100419765 100419767 BTKbase_U78027.1:g.62841_62842delGT - U78027.1:g.62841_62842delGT chrX 100419442 100419570 BTKbase_U78027.1:g.63038_63165del - U78027.1:g.63038_63165del chrX 100419568 100419569 BTKbase_U78027.1:g.63039delG - U78027.1:g.63039delG chrX 100419555 100419568 BTKbase_U78027.1:g.63040_63052del - U78027.1:g.63040_63052del chrX 100419562 100419563 BTKbase_U78027.1:g.63045C>T - U78027.1:g.63045C>T chrX 100419543 100419544 BTKbase_U78027.1:g.63064A>C - U78027.1:g.63064A>C chrX 100419535 100419536 BTKbase_U78027.1:g.63072T>G - U78027.1:g.63072T>G chrX 100419533 100419534 BTKbase_U78027.1:g.63074T>A - U78027.1:g.63074T>A chrX 100419526 100419528 BTKbase_U78027.1:g.63080_63081dupCACA - U78027.1:g.63080_63081dupCACA chrX 100419517 100419518 BTKbase_U78027.1:g.63090C>T - U78027.1:g.63090C>T chrX 100419507 100419508 BTKbase_U78027.1:g.63100T>C - U78027.1:g.63100T>C chrX 100419507 100419508 BTKbase_U78027.1:g.63100T>G - U78027.1:g.63100T>G chrX 100419502 100419503 BTKbase_U78027.1:g.63105G>T - U78027.1:g.63105G>T chrX 100419500 100419501 BTKbase_U78027.1:g.63107dupG - U78027.1:g.63107dupG chrX 100419472 100419473 BTKbase_U78027.1:g.63135C>T - U78027.1:g.63135C>T chrX 100419465 100419466 BTKbase_U78027.1:g.63142delA - U78027.1:g.63142delA chrX 100419462 100419463 BTKbase_U78027.1:g.63145A>G - U78027.1:g.63145A>G chrX 100419463 100419464 BTKbase_U78027.1:g.63144T>G - U78027.1:g.63144T>G chrX 100419461 100419462 BTKbase_U78027.1:g.63146C>A - U78027.1:g.63146C>A chrX 100419461 100419464 BTKbase_U78027.1:g.63144_63146delTAC - U78027.1:g.63144_63146delTAC chrX 100419458 100419459 BTKbase_U78027.1:g.63149T>G - U78027.1:g.63149T>G chrX 100419459 100419460 BTKbase_U78027.1:g.63148A>G - U78027.1:g.63148A>G chrX 100419456 100419457 BTKbase_U78027.1:g.63151dupA - U78027.1:g.63151dupA chrX 100419454 100419455 BTKbase_U78027.1:g.63153C>G - U78027.1:g.63153C>G chrX 100419453 100419454 BTKbase_U78027.1:g.63154A>C - U78027.1:g.63154A>C chrX 100419451 100419452 BTKbase_U78027.1:g.63156A>T - U78027.1:g.63156A>T chrX 100419442 100419443 BTKbase_U78027.1:g.63165G>T - U78027.1:g.63165G>T chrX 100418703 100418716 BTKbase_U78027.1:g.63892_63904del - U78027.1:g.63892_63904del chrX 100418713 100418714 BTKbase_U78027.1:g.63894C>T - U78027.1:g.63894C>T chrX 100418711 100418713 BTKbase_U78027.1:g.63895_63896delTC - U78027.1:g.63895_63896delTC chrX 100418708 100418709 BTKbase_U78027.1:g.63899A>G - U78027.1:g.63899A>G chrX 100418707 100418708 BTKbase_U78027.1:g.63900T>C - U78027.1:g.63900T>C chrX 100418704 100418705 BTKbase_U78027.1:g.63903A>G - U78027.1:g.63903A>G chrX 100418696 100418697 BTKbase_U78027.1:g.63911A>C - U78027.1:g.63911A>C chrX 100418693 100418694 BTKbase_U78027.1:g.63914T>G - U78027.1:g.63914T>G chrX 100418686 100418688 BTKbase_U78027.1:g.63920_63921dup - U78027.1:g.63920_63921dupGCTCAAATATCCAGTG chrX 100418683 100418684 BTKbase_U78027.1:g.63924C>T - U78027.1:g.63924C>T chrX 100418680 100418681 BTKbase_U78027.1:g.63927C>T - U78027.1:g.63927C>T chrX 100418671 100418674 BTKbase_U78027.1:g.63934_63936delinsTT - U78027.1:g.63934_63936delinsTT chrX 100418665 100418666 BTKbase_U78027.1:g.63942delC - U78027.1:g.63942delC chrX 100418658 100418663 BTKbase_U78027.1:g.63945_63949delTCCAC - U78027.1:g.63945_63949delTCCAC chrX 100418652 100418653 BTKbase_U78027.1:g.63955dupG - U78027.1:g.63955dupG chrX 100418645 100418646 BTKbase_U78027.1:g.63962A>G - U78027.1:g.63962A>G chrX 100418642 100418643 BTKbase_U78027.1:g.63965C>A - U78027.1:g.63965C>A chrX 100418643 100418644 BTKbase_U78027.1:g.63964dupA - U78027.1:g.63964dupA chrX 100418081 100418082 BTKbase_U78027.1:g.64526G>A - U78027.1:g.64526G>A chrX 100418066 100418067 BTKbase_U78027.1:g.64541delA - U78027.1:g.64541delA chrX 100418059 100418063 BTKbase_U78027.1:g.64545_64548delCCTG - U78027.1:g.64545_64548delCCTG chrX 100418060 100418061 BTKbase_U78027.1:g.64547T>C - U78027.1:g.64547T>C chrX 100418053 100418056 BTKbase_U78027.1:g.64552_64554delTTC - U78027.1:g.64552_64554delTTC chrX 100418042 100418043 BTKbase_U78027.1:g.64565T>C - U78027.1:g.64565T>C chrX 100418038 100418040 BTKbase_U78027.1:g.64568_64569insA - U78027.1:g.64568_64569insA chrX 100418038 100418039 BTKbase_U78027.1:g.64569dupG - U78027.1:g.64569dupG chrX 100418025 100418026 BTKbase_U78027.1:g.64582G>A - U78027.1:g.64582G>A chrX 100418013 100418014 BTKbase_U78027.1:g.64594T>C - U78027.1:g.64594T>C chrX 100418010 100418011 BTKbase_U78027.1:g.64597G>A - U78027.1:g.64597G>A chrX 100418002 100418003 BTKbase_U78027.1:g.64605G>A - U78027.1:g.64605G>A chrX 100417990 100417991 BTKbase_U78027.1:g.64617C>A - U78027.1:g.64617C>A chrX 100417979 100417980 BTKbase_U78027.1:g.64628T>A - U78027.1:g.64628T>A chrX 100417977 100417978 BTKbase_U78027.1:g.64630A>G - U78027.1:g.64630A>G chrX 100417976 100417977 BTKbase_U78027.1:g.64631A>G - U78027.1:g.64631A>G chrX 100417944 100417945 BTKbase_U78027.1:g.64663G>T - U78027.1:g.64663G>T chrX 100417930 100417931 BTKbase_U78027.1:g.64677A>C - U78027.1:g.64677A>C chrX 100417395 100417396 BTKbase_U78027.1:g.65212T>C - U78027.1:g.65212T>C chrX 100417393 100417395 BTKbase_U78027.1:g.65213_65214delTT - U78027.1:g.65213_65214delTT chrX 100417389 100417390 BTKbase_U78027.1:g.65218A>G - U78027.1:g.65218A>G chrX 100417375 100417376 BTKbase_U78027.1:g.65232C>T - U78027.1:g.65232C>T chrX 100417371 100417372 BTKbase_U78027.1:g.65236T>A - U78027.1:g.65236T>A chrX 100417366 100417368 BTKbase_U78027.1:g.65240_65241delTG - U78027.1:g.65240_65241delTG chrX 100417365 100417366 BTKbase_U78027.1:g.65242G>A - U78027.1:g.65242G>A chrX 100417365 100417366 BTKbase_U78027.1:g.65242G>T - U78027.1:g.65242G>T chrX 100417358 100417359 BTKbase_U78027.1:g.65249C>A - U78027.1:g.65249C>A chrX 100417354 100417355 BTKbase_U78027.1:g.65253A>T - U78027.1:g.65253A>T chrX 100417330 100417333 BTKbase_U78027.1:g.65275_65277delTCA - U78027.1:g.65275_65277delTCA chrX 100417324 100417325 BTKbase_U78027.1:g.65283T>G - U78027.1:g.65283T>G chrX 100417322 100417323 BTKbase_U78027.1:g.65285delC - U78027.1:g.65285delC chrX 100417320 100417321 BTKbase_U78027.1:g.65287T>G - U78027.1:g.65287T>G chrX 100417295 100417296 BTKbase_U78027.1:g.65312C>A - U78027.1:g.65312C>A chrX 100417293 100417294 BTKbase_U78027.1:g.65314T>C - U78027.1:g.65314T>C chrX 100417280 100417284 BTKbase_U78027.1:g.65324_65327delGCGC - U78027.1:g.65324_65327delGCGC chrX 100417281 100417285 BTKbase_U78027.1:g.65323_65326delTGCG - U78027.1:g.65323_65326delTGCG chrX 100417274 100417275 BTKbase_U78027.1:g.65333delC - U78027.1:g.65333delC chrX 100417261 100417262 BTKbase_U78027.1:g.65346C>T - U78027.1:g.65346C>T chrX 100417252 100417253 BTKbase_U78027.1:g.65355G>T - U78027.1:g.65355G>T chrX 100417248 100417249 BTKbase_U78027.1:g.65359T>C - U78027.1:g.65359T>C chrX 100417244 100417245 BTKbase_U78027.1:g.65363C>A - U78027.1:g.65363C>A chrX 100417245 100417246 BTKbase_U78027.1:g.65362G>T - U78027.1:g.65362G>T chrX 100417244 100417245 BTKbase_U78027.1:g.65363C>G - U78027.1:g.65363C>G chrX 100417239 100417240 BTKbase_U78027.1:g.65368A>T - U78027.1:g.65368A>T chrX 100417239 100417240 BTKbase_U78027.1:g.65368delA - U78027.1:g.65368delA chrX 100417233 100417234 BTKbase_U78027.1:g.65374G>T - U78027.1:g.65374G>T chrX 100417234 100417235 BTKbase_U78027.1:g.65373T>C - U78027.1:g.65373T>C chrX 100417233 100417234 BTKbase_U78027.1:g.65374G>A - U78027.1:g.65374G>A chrX 100417227 100417228 BTKbase_U78027.1:g.65380C>A - U78027.1:g.65380C>A chrX 100417223 100417224 BTKbase_U78027.1:g.65384G>A - U78027.1:g.65384G>A chrX 100417223 100417224 BTKbase_U78027.1:g.65384G>T - U78027.1:g.65384G>T chrX 100417224 100417225 BTKbase_U78027.1:g.65383T>C - U78027.1:g.65383T>C chrX 100417225 100417226 BTKbase_U78027.1:g.65382A>G - U78027.1:g.65382A>G chrX 100417225 100417226 BTKbase_U78027.1:g.65382dupA - U78027.1:g.65382dupA chrX 100417219 100417220 BTKbase_U78027.1:g.65388T>A - U78027.1:g.65388T>A chrX 100417217 100417218 BTKbase_U78027.1:g.65390C>A - U78027.1:g.65390C>A chr17 7518287 7518288 TP53_g.14045A>G - X54156.1(TP53):g.14045A>G chrX 100417218 100417220 BTKbase_U78027.1:g.65388_65389dupGAAT - U78027.1:g.65388_65389dupGAAT chrX 100417215 100417216 BTKbase_U78027.1:g.65392T>C - U78027.1:g.65392T>C chrX 100417215 100417216 BTKbase_U78027.1:g.65392T>A - U78027.1:g.65392T>A chrX 100417197 100417198 BTKbase_U78027.1:g.65410T>G - U78027.1:g.65410T>G chrX 100417192 100417193 BTKbase_U78027.1:g.65415C>G - U78027.1:g.65415C>G chrX 100417191 100417192 BTKbase_U78027.1:g.65416G>A - U78027.1:g.65416G>A chrX 100417192 100417193 BTKbase_U78027.1:g.65415C>T - U78027.1:g.65415C>T chrX 100417188 100417189 BTKbase_U78027.1:g.65419A>G - U78027.1:g.65419A>G chrX 100417189 100417190 BTKbase_U78027.1:g.65418G>C - U78027.1:g.65418G>C chrX 100417189 100417190 BTKbase_U78027.1:g.65418G>A - U78027.1:g.65418G>A chrX 100415762 100415827 BTKbase_U78027.1:g.66781_66845del - U78027.1:g.66781_66845del chrX 100415826 100415828 BTKbase_U78027.1:g.66780_66781dupACTACAG - U78027.1:g.66780_66781dupACTACAG chrX 100415825 100415826 BTKbase_U78027.1:g.66782C>A - U78027.1:g.66782C>A chrX 100415820 100415821 BTKbase_U78027.1:g.66787C>G - U78027.1:g.66787C>G chrX 100415819 100415820 BTKbase_U78027.1:g.66788G>C - U78027.1:g.66788G>C chrX 100415819 100415820 BTKbase_U78027.1:g.66788G>A - U78027.1:g.66788G>A chrX 100415820 100415821 BTKbase_U78027.1:g.66787C>T - U78027.1:g.66787C>T chrX 100415815 100415816 BTKbase_U78027.1:g.66792C>G - U78027.1:g.66792C>G chrX 100415814 100415815 BTKbase_U78027.1:g.66793T>A - U78027.1:g.66793T>A chrX 100415813 100415814 BTKbase_U78027.1:g.66794G>T - U78027.1:g.66794G>T chrX 100415809 100415813 BTKbase_U78027.1:g.66795_66798delTTTG - U78027.1:g.66795_66798delTTTG chrX 100415813 100415815 BTKbase_U78027.1:g.66793_66794delTG - U78027.1:g.66793_66794delTG chrX 100415805 100415806 BTKbase_U78027.1:g.66802delA - U78027.1:g.66802delA chrX 100415796 100415797 BTKbase_U78027.1:g.66811delG - U78027.1:g.66811delG chrX 100415790 100415791 BTKbase_U78027.1:g.66817G>T - U78027.1:g.66817G>T chrX 100415783 100415784 BTKbase_U78027.1:g.66824T>A - U78027.1:g.66824T>A chrX 100415781 100415782 BTKbase_U78027.1:g.66826T>C - U78027.1:g.66826T>C chrX 100415779 100415780 BTKbase_U78027.1:g.66828delT - U78027.1:g.66828delT chrX 100415774 100415775 BTKbase_U78027.1:g.66833T>C - U78027.1:g.66833T>C chrX 100415766 100415776 BTKbase_U78027.1:g.66832_66841del - U78027.1:g.66832_66841del chrX 100415771 100415772 BTKbase_U78027.1:g.66836G>A - U78027.1:g.66836G>A chrX 100415768 100415769 BTKbase_U78027.1:g.66839T>C - U78027.1:g.66839T>C chrX 100415762 100415763 BTKbase_U78027.1:g.66845G>A - U78027.1:g.66845G>A chrX 100415763 100415764 BTKbase_U78027.1:g.66844A>G - U78027.1:g.66844A>G chrX 100415120 100415121 BTKbase_U78027.1:g.67487G>T - U78027.1:g.67487G>T chrX 100415115 100415116 BTKbase_U78027.1:g.67492T>C - U78027.1:g.67492T>C chrX 100415111 100415113 BTKbase_U78027.1:g.67495_67496dupATGTCCT - U78027.1:g.67495_67496dupATGTCCT chrX 100415091 100415092 BTKbase_U78027.1:g.67516C>G - U78027.1:g.67516C>G chrX 100415063 100415085 BTKbase_U78027.1:g.67523_67544del - U78027.1:g.67523_67544del chrX 100415080 100415081 BTKbase_U78027.1:g.67527A>T - U78027.1:g.67527A>T chrX 100415076 100415077 BTKbase_U78027.1:g.67531T>C - U78027.1:g.67531T>C chrX 100415069 100415071 BTKbase_U78027.1:g.67537_67538delinsA - U78027.1:g.67537_67538delinsA chrX 100415067 100415068 BTKbase_U78027.1:g.67540G>C - U78027.1:g.67540G>C chrX 100415068 100415069 BTKbase_U78027.1:g.67539C>T - U78027.1:g.67539C>T chrX 100415067 100415069 BTKbase_U78027.1:g.67539_67540delinsT - U78027.1:g.67539_67540delinsT chrX 100415064 100415065 BTKbase_U78027.1:g.67543G>T - U78027.1:g.67543G>T chrX 100415064 100415065 BTKbase_U78027.1:g.67543G>A - U78027.1:g.67543G>A chrX 100415058 100415059 BTKbase_U78027.1:g.67549C>T - U78027.1:g.67549C>T chrX 100415059 100415060 BTKbase_U78027.1:g.67548C>A - U78027.1:g.67548C>A chrX 100415056 100415057 BTKbase_U78027.1:g.67551C>T - U78027.1:g.67551C>T chrX 100415054 100415055 BTKbase_U78027.1:g.67553delG - U78027.1:g.67553delG chrX 100415051 100415052 BTKbase_U78027.1:g.67556A>C - U78027.1:g.67556A>C chrX 100415053 100415054 BTKbase_U78027.1:g.67554G>A - U78027.1:g.67554G>A chrX 100415053 100415054 BTKbase_U78027.1:g.67554delG - U78027.1:g.67554delG chrX 100415046 100415047 BTKbase_U78027.1:g.67561T>C - U78027.1:g.67561T>C chrX 100415037 100415042 BTKbase_U78027.1:g.67566_67570delTATAG - U78027.1:g.67566_67570delTATAG chrX 100415041 100415042 BTKbase_U78027.1:g.67566delT - U78027.1:g.67566delT chrX 100415038 100415040 BTKbase_U78027.1:g.67568_67569insTA - U78027.1:g.67568_67569insTA chrX 100415036 100415038 BTKbase_U78027.1:g.67570_67571insTA - U78027.1:g.67570_67571insTA chrX 100415028 100415029 BTKbase_U78027.1:g.67579G>T - U78027.1:g.67579G>T chrX 100415027 100415028 BTKbase_U78027.1:g.67580C>A - U78027.1:g.67580C>A chrX 100415019 100415020 BTKbase_U78027.1:g.67588C>A - U78027.1:g.67588C>A chrX 100415016 100415017 BTKbase_U78027.1:g.67591A>T - U78027.1:g.67591A>T chrX 100415011 100415012 BTKbase_U78027.1:g.67596T>C - U78027.1:g.67596T>C chrX 100415010 100415011 BTKbase_U78027.1:g.67597G>C - U78027.1:g.67597G>C chrX 100415009 100415010 BTKbase_U78027.1:g.67598G>A - U78027.1:g.67598G>A chrX 100415007 100415008 BTKbase_U78027.1:g.67600C>T - U78027.1:g.67600C>T chrX 100415007 100415008 BTKbase_U78027.1:g.67600delC - U78027.1:g.67600delC chrX 100415004 100415005 BTKbase_U78027.1:g.67603T>C - U78027.1:g.67603T>C chrX 100415003 100415004 BTKbase_U78027.1:g.67604delT - U78027.1:g.67604delT chrX 100415002 100415003 BTKbase_U78027.1:g.67605G>A - U78027.1:g.67605G>A chrX 100415002 100415003 BTKbase_U78027.1:g.67605G>T - U78027.1:g.67605G>T chrX 100414481 100414482 BTKbase_U78027.1:g.68127G>T - U78027.1:g.68127G>T chrX 100415002 100415003 BTKbase_U78027.1:g.67605delG - U78027.1:g.67605delG chrX 100414475 100414476 BTKbase_U78027.1:g.68133A>C - U78027.1:g.68133A>C chrX 100414474 100414475 BTKbase_U78027.1:g.68134T>C - U78027.1:g.68134T>C chrX 100414470 100414471 BTKbase_U78027.1:g.68138G>T - U78027.1:g.68138G>T chrX 100414471 100414472 BTKbase_U78027.1:g.68137G>A - U78027.1:g.68137G>A chrX 100414467 100414468 BTKbase_U78027.1:g.68141A>T - U78027.1:g.68141A>T chrX 100414468 100414469 BTKbase_U78027.1:g.68140A>G - U78027.1:g.68140A>G chrX 100414469 100414470 BTKbase_U78027.1:g.68139G>A - U78027.1:g.68139G>A chrX 100414466 100414467 BTKbase_U78027.1:g.68142A>T - U78027.1:g.68142A>T chrX 100414466 100414467 BTKbase_U78027.1:g.68142delA - U78027.1:g.68142delA chrX 100414462 100414463 BTKbase_U78027.1:g.68146A>C - U78027.1:g.68146A>C chrX 100414461 100414462 BTKbase_U78027.1:g.68147C>A - U78027.1:g.68147C>A chrX 100414460 100414461 BTKbase_U78027.1:g.68148T>C - U78027.1:g.68148T>C chrX 100414459 100414460 BTKbase_U78027.1:g.68149C>A - U78027.1:g.68149C>A chrX 100414453 100414454 BTKbase_U78027.1:g.68155G>A - U78027.1:g.68155G>A chrX 100414454 100414455 BTKbase_U78027.1:g.68154G>A - U78027.1:g.68154G>A chrX 100414454 100414455 BTKbase_U78027.1:g.68154G>C - U78027.1:g.68154G>C chrX 100414445 100414446 BTKbase_U78027.1:g.68163C>A - U78027.1:g.68163C>A chrX 100414441 100414442 BTKbase_U78027.1:g.68167A>G - U78027.1:g.68167A>G chrX 100414442 100414443 BTKbase_U78027.1:g.68166T>G - U78027.1:g.68166T>G chrX 100414441 100414442 BTKbase_U78027.1:g.68167A>C - U78027.1:g.68167A>C chrX 100414436 100414437 BTKbase_U78027.1:g.68172A>T - U78027.1:g.68172A>T chrX 100414423 100414425 BTKbase_U78027.1:g.68184_68185delAG - U78027.1:g.68184_68185delAG chrX 100414421 100414423 BTKbase_U78027.1:g.68186_68187insGACAGT - U78027.1:g.68186_68187insGACAGT chrX 100414418 100414419 BTKbase_U78027.1:g.68190A>C - U78027.1:g.68190A>C chrX 100414414 100414415 BTKbase_U78027.1:g.68194C>A - U78027.1:g.68194C>A chrX 100414399 100414400 BTKbase_U78027.1:g.68209A>C - U78027.1:g.68209A>C chrX 100414400 100414401 BTKbase_U78027.1:g.68208C>T - U78027.1:g.68208C>T chrX 100414400 100414401 BTKbase_U78027.1:g.68208delC - U78027.1:g.68208delC chrX 100414396 100414397 BTKbase_U78027.1:g.68212G>C - U78027.1:g.68212G>C chrX 100414396 100414397 BTKbase_U78027.1:g.68212G>A - U78027.1:g.68212G>A chrX 100414390 100414391 BTKbase_U78027.1:g.68218G>C - U78027.1:g.68218G>C chrX 100414388 100414389 BTKbase_U78027.1:g.68220C>T - U78027.1:g.68220C>T chrX 100414388 100414389 BTKbase_U78027.1:g.68220C>A - U78027.1:g.68220C>A chrX 100414384 100414387 BTKbase_U78027.1:g.68222_68224delCTA - U78027.1:g.68222_68224delCTA chrX 100414379 100414380 BTKbase_U78027.1:g.68229C>G - U78027.1:g.68229C>G chrX 100414378 100414379 BTKbase_U78027.1:g.68230C>T - U78027.1:g.68230C>T chrX 100414379 100414380 BTKbase_U78027.1:g.68229C>T - U78027.1:g.68229C>T chrX 100414379 100414380 BTKbase_U78027.1:g.68229C>A - U78027.1:g.68229C>A chrX 100414371 100414372 BTKbase_U78027.1:g.68237delG - U78027.1:g.68237delG chrX 100414370 100414371 BTKbase_U78027.1:g.68238G>C - U78027.1:g.68238G>C chrX 100414366 100414367 BTKbase_U78027.1:g.68242C>T - U78027.1:g.68242C>T chrX 100414361 100414362 BTKbase_U78027.1:g.68247A>T - U78027.1:g.68247A>T chrX 100414357 100414358 BTKbase_U78027.1:g.68251T>G - U78027.1:g.68251T>G chrX 100414351 100414356 BTKbase_U78027.1:g.68253_68257delins - U78027.1:g.68253_68257delinsCAGTACATGCCAA chrX 100414352 100414354 BTKbase_U78027.1:g.68255_68256insCA - U78027.1:g.68255_68256insCA chrX 100414345 100414346 BTKbase_U78027.1:g.68263T>C - U78027.1:g.68263T>C chrX 100414346 100414348 BTKbase_U78027.1:g.68261_68262dup - U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC chrX 100414345 100414346 BTKbase_U78027.1:g.68263T>A - U78027.1:g.68263T>A chrX 100414341 100414343 BTKbase_U78027.1:g.68266_68267delAC - U78027.1:g.68266_68267delAC chrX 100414343 100414344 BTKbase_U78027.1:g.68265delT - U78027.1:g.68265delT chrX 100414340 100414341 BTKbase_U78027.1:g.68268delA - U78027.1:g.68268delA chrX 100414336 100414337 BTKbase_U78027.1:g.68272G>A - U78027.1:g.68272G>A chrX 100414336 100414337 BTKbase_U78027.1:g.68272delG - U78027.1:g.68272delG chrX 100414333 100414334 BTKbase_U78027.1:g.68275G>C - U78027.1:g.68275G>C chrX 100414332 100414333 BTKbase_U78027.1:g.68276G>A - U78027.1:g.68276G>A chrX 100414330 100414331 BTKbase_U78027.1:g.68278delA - U78027.1:g.68278delA chrX 100414328 100414329 BTKbase_U78027.1:g.68280G>T - U78027.1:g.68280G>T chrX 100414328 100414330 BTKbase_U78027.1:g.68279_68280insTTTTAG - U78027.1:g.68279_68280insTTTTAG chrX 100411086 100411087 BTKbase_U78027.1:g.71523delA - U78027.1:g.71523delA chrX 100411088 100411090 BTKbase_U78027.1:g.71520_71521dupTTTTAG - U78027.1:g.71520_71521dupTTTTAG chrX 100411083 100411086 BTKbase_U78027.1:g.71524_71526delGCA - U78027.1:g.71524_71526delGCA chrX 100411076 100411077 BTKbase_U78027.1:g.71533C>T - U78027.1:g.71533C>T chrX 100411075 100411076 BTKbase_U78027.1:g.71534G>A - U78027.1:g.71534G>A chrX 100411065 100411073 BTKbase_U78027.1:g.71537_71544delCCACTTTC - U78027.1:g.71537_71544delCCACTTTC chrX 100411069 100411070 BTKbase_U78027.1:g.71540C>T - U78027.1:g.71540C>T chrX 100411068 100411069 BTKbase_U78027.1:g.71541delT - U78027.1:g.71541delT chrX 100411065 100411066 BTKbase_U78027.1:g.71544C>A - U78027.1:g.71544C>A chrX 100411066 100411067 BTKbase_U78027.1:g.71543T>C - U78027.1:g.71543T>C chrX 100411057 100411058 BTKbase_U78027.1:g.71552T>G - U78027.1:g.71552T>G chrX 100411054 100411055 BTKbase_U78027.1:g.71555T>C - U78027.1:g.71555T>C chrX 100411045 100411046 BTKbase_U78027.1:g.71564delT - U78027.1:g.71564delT chrX 100411042 100411043 BTKbase_U78027.1:g.71567T>C - U78027.1:g.71567T>C chrX 100447356 100447357 BTKbase_U78027.1:g.35258A>G - U78027.1:g.35258A>G chrX 100447393 100447394 BTKbase_U78027.1:g.35221A>C - U78027.1:g.35221A>C chrX 100436439 100436440 BTKbase_U78027.1:g.46174dupG - U78027.1:g.46174dupG chrX 100447188 100447189 BTKbase_U78027.1:g.35426T>G - U78027.1:g.35426T>G chrX 100436447 100436448 BTKbase_U78027.1:g.46166G>A - U78027.1:g.46166G>A chrX 100447193 100447194 BTKbase_U78027.1:g.35421G>C - U78027.1:g.35421G>C chrX 100447189 100447190 BTKbase_U78027.1:g.35425G>A - U78027.1:g.35425G>A chrX 100436272 100436274 BTKbase_U78027.1:g.46340_46341delAA - U78027.1:g.46340_46341delAA chrX 100436275 100436276 BTKbase_U78027.1:g.46338G>A - U78027.1:g.46338G>A chrX 100435768 100435769 BTKbase_U78027.1:g.46845A>G - U78027.1:g.46845A>G chrX 100435767 100435768 BTKbase_U78027.1:g.46846G>A - U78027.1:g.46846G>A chrX 100436274 100436275 BTKbase_U78027.1:g.46339T>A - U78027.1:g.46339T>A chrX 100436265 100436266 BTKbase_U78027.1:g.46348C>T - U78027.1:g.46348C>T chrX 100436274 100436275 BTKbase_U78027.1:g.46339T>G - U78027.1:g.46339T>G chrX 100436275 100436276 BTKbase_U78027.1:g.46338G>C - U78027.1:g.46338G>C chrX 100435667 100435668 BTKbase_U78027.1:g.46946G>A - U78027.1:g.46946G>A chrX 100435667 100435668 BTKbase_U78027.1:g.46946delG - U78027.1:g.46946delG chrX 100435666 100435667 BTKbase_U78027.1:g.46947T>G - U78027.1:g.46947T>G chrX 100435667 100435668 BTKbase_U78027.1:g.46946G>C - U78027.1:g.46946G>C chrX 100435662 100435677 BTKbase_U78027.1:g.46937_46951del - U78027.1:g.46937_46951del chrX 100435668 100435669 BTKbase_U78027.1:g.46945G>A - U78027.1:g.46945G>A chrX 100432835 100432836 BTKbase_U78027.1:g.49779A>G - U78027.1:g.49779A>G chrX 100431212 100431213 BTKbase_U78027.1:g.51402G>C - U78027.1:g.51402G>C chrX 100431213 100431214 BTKbase_U78027.1:g.51401A>T - U78027.1:g.51401A>T chrX 100431213 100431214 BTKbase_U78027.1:g.51401A>C - U78027.1:g.51401A>C chrX 100431213 100431214 BTKbase_U78027.1:g.51401A>G - U78027.1:g.51401A>G chrX 100423823 100423824 BTKbase_U78027.1:g.58784A>G - U78027.1:g.58784A>G chrX 100431128 100431129 BTKbase_U78027.1:g.51486T>G - U78027.1:g.51486T>G chrX 100431129 100431130 BTKbase_U78027.1:g.51485G>A - U78027.1:g.51485G>A chrX 100423823 100423824 BTKbase_U78027.1:g.58784A>C - U78027.1:g.58784A>C chrX 100431129 100431130 BTKbase_U78027.1:g.51485G>T - U78027.1:g.51485G>T chrX 100423822 100423823 BTKbase_U78027.1:g.58785G>A - U78027.1:g.58785G>A chrX 100423688 100423689 BTKbase_U78027.1:g.58919G>A - U78027.1:g.58919G>A chrX 100423373 100423374 BTKbase_U78027.1:g.59234G>A - U78027.1:g.59234G>A chrX 100423692 100423693 BTKbase_U78027.1:g.58915G>A - U78027.1:g.58915G>A chrX 100423688 100423689 BTKbase_U78027.1:g.58919G>T - U78027.1:g.58919G>T chrX 100423304 100423305 BTKbase_U78027.1:g.59303G>C - U78027.1:g.59303G>C chrX 100421896 100421897 BTKbase_U78027.1:g.60711A>G - U78027.1:g.60711A>G chrX 100421699 100421700 BTKbase_U78027.1:g.60908G>A - U78027.1:g.60908G>A chrX 100421283 100421284 BTKbase_U78027.1:g.61324G>C - U78027.1:g.61324G>C chrX 100421699 100421700 BTKbase_U78027.1:g.60908G>T - U78027.1:g.60908G>T chrX 100421698 100421699 BTKbase_U78027.1:g.60909T>C - U78027.1:g.60909T>C chrX 100421283 100421284 BTKbase_U78027.1:g.61324G>A - U78027.1:g.61324G>A chrX 100421215 100421216 BTKbase_U78027.1:g.61392G>A - U78027.1:g.61392G>A chrX 100421219 100421220 BTKbase_U78027.1:g.61388G>A - U78027.1:g.61388G>A chrX 100421216 100421217 BTKbase_U78027.1:g.61391A>G - U78027.1:g.61391A>G chrX 100421213 100421217 BTKbase_U78027.1:g.61391_61394delAGTA - U78027.1:g.61391_61394delAGTA chrX 100420424 100420425 BTKbase_U78027.1:g.62183G>A - U78027.1:g.62183G>A chrX 100419830 100419831 BTKbase_U78027.1:g.62777delA - U78027.1:g.62777delA chrX 100419838 100419839 BTKbase_U78027.1:g.62769delinsAGGGGAAAACT - U78027.1:g.62769delinsAGGGGAAAACT chrX 100419830 100419831 BTKbase_U78027.1:g.62777A>C - U78027.1:g.62777A>C chrX 100419829 100419830 BTKbase_U78027.1:g.62778G>A - U78027.1:g.62778G>A chrX 100420424 100420425 BTKbase_U78027.1:g.62183G>C - U78027.1:g.62183G>C chrX 100420424 100420425 BTKbase_U78027.1:g.62183G>T - U78027.1:g.62183G>T chrX 100419748 100419749 BTKbase_U78027.1:g.62859delG - U78027.1:g.62859delG chrX 100419745 100419746 BTKbase_U78027.1:g.62862A>T - U78027.1:g.62862A>T chrX 100419746 100419747 BTKbase_U78027.1:g.62861G>T - U78027.1:g.62861G>T chrX 100419748 100419749 BTKbase_U78027.1:g.62859G>A - U78027.1:g.62859G>A chrX 100419744 100419745 BTKbase_U78027.1:g.62863G>T - U78027.1:g.62863G>T chrX 100418717 100418718 BTKbase_U78027.1:g.63890A>T - U78027.1:g.63890A>T chrX 100419441 100419442 BTKbase_U78027.1:g.63166G>A - U78027.1:g.63166G>A chrX 100418716 100418717 BTKbase_U78027.1:g.63891G>A - U78027.1:g.63891G>A chrX 100418089 100418090 BTKbase_U78027.1:g.64518A>T - U78027.1:g.64518A>T chrX 100418639 100418640 BTKbase_U78027.1:g.63968delT - U78027.1:g.63968delT chrX 100418087 100418089 BTKbase_U78027.1:g.64519_64520delinsCT - U78027.1:g.64519_64520delinsCT chrX 100418088 100418089 BTKbase_U78027.1:g.64519G>A - U78027.1:g.64519G>A chrX 100418094 100418096 BTKbase_U78027.1:g.64512_64513insC - U78027.1:g.64512_64513insC chrX 100418615 100418617 BTKbase_U78027.1:g.63991_63992insGGTAGAAAAAA - U78027.1:g.63991_63992insGGTAGAAAAAA chrX 100417911 100417912 BTKbase_U78027.1:g.64696G>T - U78027.1:g.64696G>T chrX 100417911 100417912 BTKbase_U78027.1:g.64696G>A - U78027.1:g.64696G>A chrX 100417915 100417916 BTKbase_U78027.1:g.64692G>T - U78027.1:g.64692G>T chrX 100417910 100417911 BTKbase_U78027.1:g.64697T>G - U78027.1:g.64697T>G chrX 100417915 100417916 BTKbase_U78027.1:g.64692G>A - U78027.1:g.64692G>A chrX 100417402 100417403 BTKbase_U78027.1:g.65205A>G - U78027.1:g.65205A>G chrX 100415835 100415839 BTKbase_U78027.1:g.66769_66772delTTTG - U78027.1:g.66769_66772delTTTG chrX 100417183 100417184 BTKbase_U78027.1:g.65424G>T - U78027.1:g.65424G>T chrX 100415828 100415829 BTKbase_U78027.1:g.66779A>G - U78027.1:g.66779A>G chrX 100415828 100415829 BTKbase_U78027.1:g.66779A>C - U78027.1:g.66779A>C chrX 100417183 100417184 BTKbase_U78027.1:g.65424G>C - U78027.1:g.65424G>C chrX 100417183 100417184 BTKbase_U78027.1:g.65424G>A - U78027.1:g.65424G>A chrX 100415761 100415762 BTKbase_U78027.1:g.66846G>T - U78027.1:g.66846G>T chrX 100415761 100415762 BTKbase_U78027.1:g.66846G>C - U78027.1:g.66846G>C chrX 100415123 100415124 BTKbase_U78027.1:g.67484C>A - U78027.1:g.67484C>A chrX 100415757 100415758 BTKbase_U78027.1:g.66850G>A - U78027.1:g.66850G>A chrX 100415122 100415123 BTKbase_U78027.1:g.67485A>G - U78027.1:g.67485A>G chrX 100415761 100415762 BTKbase_U78027.1:g.66846G>A - U78027.1:g.66846G>A chrX 100415760 100415761 BTKbase_U78027.1:g.66847dupT - U78027.1:g.66847dupT chrX 100414484 100414485 BTKbase_U78027.1:g.68124G>A - U78027.1:g.68124G>A chrX 100414999 100415001 BTKbase_U78027.1:g.67607_67608insT - U78027.1:g.67607_67608insT chrX 100414997 100414998 BTKbase_U78027.1:g.67610G>A - U78027.1:g.67610G>A chrX 100414484 100414485 BTKbase_U78027.1:g.68124G>C - U78027.1:g.68124G>C chrX 100414484 100414485 BTKbase_U78027.1:g.68124G>T - U78027.1:g.68124G>T chrX 100415001 100415002 BTKbase_U78027.1:g.67606G>T - U78027.1:g.67606G>T chrX 100415001 100415002 BTKbase_U78027.1:g.67606G>C - U78027.1:g.67606G>C chrX 100414998 100414999 BTKbase_U78027.1:g.67609dupA - U78027.1:g.67609dupA chrX 100414325 100414326 BTKbase_U78027.1:g.68283G>T - U78027.1:g.68283G>T chrX 100414324 100414326 BTKbase_U78027.1:g.68283_68284insC - U78027.1:g.68283_68284insC chrX 100414325 100414326 BTKbase_U78027.1:g.68283G>A - U78027.1:g.68283G>A chrX 100411090 100411091 BTKbase_U78027.1:g.71519A>G - U78027.1:g.71519A>G chrX 100420043 100421030 BTKbase_U78027.1:g.61578_62564del - U78027.1:g.61578_62564del chr1 22711089 22711090 C1QAbase_D0007:g.2687C>T + D0007:g.2687C>T chr1 22711089 22711090 C1QAbase_C1QA_DNA:g.2687C>T + C1QA_DNA:g.2687C>T chr1 22731379 22731380 C1QBbase_D0111:g.7335G>A + D0111:g.7335G>A chr1 22732951 22732952 C1QBbase_D0111:g.8907C>T + D0111:g.8907C>T chr1 22715921 22715922 C1QCbase_D0008:g.1491G>A + D0008:g.1491G>A chr1 22719048 22719049 C1QCbase_D0008:g.4618C>T + D0008:g.4618C>T chr1 22719056 22719057 C1QCbase_D0008:g.4626delC + D0008:g.4626delC chr12 7045272 7045276 C1Sbase_D0009:g.7961_7964delTTTG + D0009:g.7961_7964delTTTG chr12 7047937 7047938 C1Sbase_D0009:g.10626G>T + D0009:g.10626G>T chr12 7047715 7047716 C1Sbase_D0009:g.10404C>T + D0009:g.10404C>T chr6 32004622 32004623 C2base_D0094:g.2151G>A + D0094:g.2151G>A chr6 32011782 32011783 C2base_D0094:g.9059G>C + D0094:g.9059G>C chr6 32010046 32010074 C2base_D0094:g.7326_7353del + D0094:g.7326_7353del chr6 32019009 32019010 C2base_D0094:g.16300G>A + D0094:g.16300G>A chr19 6661690 6661691 C3base_D0106:g.10970G>A - D0106:g.10970G>A chr19 6661679 6661680 C3base_D0106:g.10981G>A - D0106:g.10981G>A chr19 6653481 6653542 C3base_D0106:g.19119_19179del - D0106:g.19119_19179del chr19 6648703 6648704 C3base_D0106:g.23958C>T - D0106:g.23958C>T chr19 6644081 6644082 C3base_D0106:g.28580C>G - D0106:g.28580C>G chr19 6663517 6663518 C3base_D0106:g.9143G>T - D0106:g.9143G>T chr19 6629299 6629300 C3base_D0106:g.43362A>G - D0106:g.43362A>G chr9 120892023 120892024 C5base_D0107:g.1067C>T - D0107:g.1067C>T chr9 120865236 120865237 C5base_D0107:g.27854A>G - D0107:g.27854A>G chr9 120804580 120804581 C5base_D0107:g.88510C>T - D0107:g.88510C>T chr5 41237479 41237480 C6base_D0108:g.18158delC - D0108:g.18158delC chr5 41217322 41217323 C6base_D0108:g.40140delG - D0108:g.40140delG chr5 41212363 41212364 C6base_D0108:g.45142delC - D0108:g.45142delC chr5 41194621 41194622 C6base_D0108:g.62884delG - D0108:g.62884delG chr5 41185791 41185792 C6base_D0108:g.71714T>C - D0108:g.71714T>C chr5 40981119 40981130 C7base_D0109:g.17686_17696del + D0109:g.17686_17696del chr5 41008302 41008304 C7base_D0109:g.44904_44905delAG + D0109:g.44904_44905delAG chr5 40994054 40994055 C7base_D0109:g.30614G>A + D0109:g.30614G>A chr5 40981103 40981104 C7base_D0109:g.17670G>A + D0109:g.17670G>A chr5 40991286 40991287 C7base_D0109:g.27844G>C + D0109:g.27844G>C chr5 40981147 40981148 C7base_D0109:g.17714G>A + D0109:g.17714G>A chr5 40993944 40993945 C7base_D0109:g.30504delA + D0109:g.30504delA chr5 40994088 40994089 C7base_D0109:g.30648T>A + D0109:g.30648T>A chr5 40995378 40995379 C7base_D0109:g.31938C>A + D0109:g.31938C>A chr5 41008335 41008336 C7base_D0109:g.44937G>T + D0109:g.44937G>T chr5 41008422 41008423 C7base_D0109:g.45024G>C + D0109:g.45024G>C chr5 41008438 41008439 C7base_D0109:g.45040G>A + D0109:g.45040G>A chr5 41012673 41012675 C7base_D0109:g.49275_49276delGT + D0109:g.49275_49276delGT chr5 41015667 41015668 C7base_D0109:g.51345T>A + D0109:g.51345T>A chr5 41015767 41015768 C7base_D0109:g.51445delG + D0109:g.51445delG chr5 41015769 41015770 C7base_D0109:g.51447T>C + D0109:g.51447T>C chr5 40966921 40966922 C7base_D0109:g.3489G>A + D0109:g.3489G>A chr5 40972195 40972196 C7base_D0109:g.8767G>T + D0109:g.8767G>T chr1 57134582 57134583 C8Bbase_D0010:g.10088C>T - D0010:g.10088C>T chr1 57118658 57118659 C8Bbase_D0010:g.26012C>T - D0010:g.26012C>T chr1 57134517 57134518 C8Bbase_D0010:g.10153delC - D0010:g.10153delC chr1 57129802 57129803 C8Bbase_D0010:g.14868delC - D0010:g.14868delC chr1 57134492 57134493 C8Bbase_D0010:g.10178C>T - D0010:g.10178C>T chr1 57127292 57127293 C8Bbase_D0010:g.17378C>T - D0010:g.17378C>T chr5 39377970 39377971 C9base_D0110:g.23357C>A - D0110:g.23357C>A chr5 39377020 39377021 C9base_D0110:g.24307C>T - D0110:g.24307C>T chr5 39377134 39377135 C9base_D0110:g.24193C>T - D0110:g.24193C>T chr5 39377125 39377126 C9base_D0110:g.24202T>G - D0110:g.24202T>G chr5 39342611 39342612 C9base_D0110:g.58679C>G - D0110:g.58679C>G chr2 201898342 201898343 CASP10base_D0012:g.25946C>T + D0012:g.25946C>T chr2 201899603 201899604 CASP10base_D0012:g.27207G>A + D0012:g.27207G>A chr2 201969001 201969002 CASP8base_D0013:g.19791C>T + D0013:g.19791C>T chr16 28854998 28854999 CD19base_D0112:g.5221dupA + D0112:g.5221dupA chr16 28856456 28856458 CD19base_D0112:g.6679_6680delGA + D0112:g.6679_6680delGA chr1 164140249 164140250 CD247base_D0115:g.80235C>T - D0115:g.80235C>T chr1 164133929 164133931 CD247base_D0115:g.86554_86555insC - D0115:g.86554_86555insC chr11 117716371 117716372 CD3Dbase_D0014:g.2604C>T - D0014:g.2604C>T chr11 117715826 117715827 CD3Dbase_D0014:g.3149C>A - D0014:g.3149C>A chr11 117715832 117715833 CD3Dbase_D0014:g.3143A>G - D0014:g.3143A>G chr11 117688614 117688615 CD3Ebase_HSCD3E05:g.87G>A + HSCD3E05:g.87G>A chr11 117689800 117689801 CD3Ebase_HSCD3E06:g.173T>C + HSCD3E06:g.173T>C chr11 117720348 117720349 CD3Gbase_HSTCR3G1:g.1380A>G + HSTCR3G1:g.1380A>G chr11 117725666 117725667 CD3Gbase_HSTCR3G3:g.27G>C + HSTCR3G3:g.27G>C chr11 117725792 117725793 CD3Gbase_HSTCR3G3:g.153A>T + HSTCR3G3:g.153A>T chrX 135455957 135455958 CD40Lbase_D0015:g.1086C>T + D0015:g.1086C>T chrX 135456004 135456005 CD40Lbase_D0015:g.1133T>G + D0015:g.1133T>G chrX 135456033 135456034 CD40Lbase_D0015:g.1162T>G + D0015:g.1162T>G chrX 135456038 135456039 CD40Lbase_D0015:g.1167G>C + D0015:g.1167G>C chrX 135456042 135456043 CD40Lbase_D0015:g.1171C>A + D0015:g.1171C>A chrX 135456068 135456069 CD40Lbase_D0015:g.1197A>T + D0015:g.1197A>T chrX 135456082 135456083 CD40Lbase_D0015:g.1211G>A + D0015:g.1211G>A chrX 135456080 135456081 CD40Lbase_D0015:g.1209A>T + D0015:g.1209A>T chrX 135457944 135457948 CD40Lbase_D0015:g.3073_3076delATAG + D0015:g.3073_3076delATAG chrX 135457945 135457949 CD40Lbase_D0015:g.3074_3077delTAGA + D0015:g.3074_3077delTAGA chrX 135457953 135457954 CD40Lbase_D0015:g.3082G>T + D0015:g.3082G>T chrX 135457995 135457996 CD40Lbase_D0015:g.3124C>T + D0015:g.3124C>T chrX 135457995 135457997 CD40Lbase_D0015:g.3124_3125delCA + D0015:g.3124_3125delCA chrX 135457997 135457999 CD40Lbase_D0015:g.3126_3127insT + D0015:g.3126_3127insT chrX 135458003 135458004 CD40Lbase_D0015:g.3132C>A + D0015:g.3132C>A chrX 135458013 135458014 CD40Lbase_D0015:g.3142G>T + D0015:g.3142G>T chrX 135458029 135458031 CD40Lbase_D0015:g.3158_3159insT + D0015:g.3158_3159insT chrX 135458029 135458030 CD40Lbase_D0015:g.3158dupT + D0015:g.3158dupT chrX 135458073 135458074 CD40Lbase_D0015:g.3202A>T + D0015:g.3202A>T chrX 135462056 135462057 CD40Lbase_D0015:g.7185delA + D0015:g.7185delA chrX 135462064 135462065 CD40Lbase_D0015:g.7193dupA + D0015:g.7193dupA chrX 135462081 135462088 CD40Lbase_D0015:g.7210_7216delAAAGAAA + D0015:g.7210_7216delAAAGAAA chrX 135462084 135462085 CD40Lbase_D0015:g.7213G>T + D0015:g.7213G>T chrX 135462085 135462086 CD40Lbase_D0015:g.7214delA + D0015:g.7214delA chrX 135462096 135462097 CD40Lbase_D0015:g.7225G>T + D0015:g.7225G>T chrX 135462108 135462109 CD40Lbase_D0015:g.7237G>C + D0015:g.7237G>C chrX 135462108 135462109 CD40Lbase_D0015:g.7237G>A + D0015:g.7237G>A chrX 135464055 135464056 CD40Lbase_D0015:g.9184C>A + D0015:g.9184C>A chrX 135464054 135464055 CD40Lbase_D0015:g.9183delG + D0015:g.9183delG chrX 135464061 135464062 CD40Lbase_D0015:g.9190A>G + D0015:g.9190A>G chrX 135464064 135464065 CD40Lbase_D0015:g.9193T>C + D0015:g.9193T>C chrX 135464064 135464065 CD40Lbase_D0015:g.9193T>A + D0015:g.9193T>A chrX 135464063 135464065 CD40Lbase_D0015:g.9192_9193insA + D0015:g.9192_9193insA chrX 135464071 135464072 CD40Lbase_D0015:g.9200T>A + D0015:g.9200T>A chrX 135464073 135464074 CD40Lbase_D0015:g.9202A>G + D0015:g.9202A>G chrX 135464068 135464070 CD40Lbase_D0015:g.9197_9198insA + D0015:g.9197_9198insA chrX 135464068 135464070 CD40Lbase_D0015:g.9197_9198insG + D0015:g.9197_9198insG chrX 135464082 135464084 CD40Lbase_D0015:g.9211_9212insA + D0015:g.9211_9212insA chrX 135466716 135466718 CD40Lbase_D0015:g.11845_11846ins12 + D0015:g.11845_11846ins12 chrX 135466716 135466718 CD40Lbase_D0015:g.11845_11846ins9 + D0015:g.11845_11846ins9 chrX 135466722 135466723 CD40Lbase_D0015:g.11851C>T + D0015:g.11851C>T chrX 135466727 135466728 CD40Lbase_D0015:g.11856G>T + D0015:g.11856G>T chrX 135466725 135466726 CD40Lbase_D0015:g.11854T>G + D0015:g.11854T>G chrX 135466725 135466726 CD40Lbase_D0015:g.11854T>C + D0015:g.11854T>C chrX 135466726 135466727 CD40Lbase_D0015:g.11855G>A + D0015:g.11855G>A chrX 135466731 135466737 CD40Lbase_D0015:g.11860_11865delGAAAAA + D0015:g.11860_11865delGAAAAA chrX 135466735 135466736 CD40Lbase_D0015:g.11864A>C + D0015:g.11864A>C chrX 135466738 135466739 CD40Lbase_D0015:g.11867G>A + D0015:g.11867G>A chrX 135466736 135466738 CD40Lbase_D0015:g.11865_11866insA + D0015:g.11865_11866insA chrX 135466742 135466743 CD40Lbase_D0015:g.11871C>A + D0015:g.11871C>A chrX 135466740 135466743 CD40Lbase_D0015:g.11869_11871delTAC + D0015:g.11869_11871delTAC chrX 135466747 135466748 CD40Lbase_D0015:g.11876C>A + D0015:g.11876C>A chrX 135466751 135466756 CD40Lbase_D0015:g.11880_11884delGAGCA + D0015:g.11880_11884delGAGCA chrX 135466771 135466772 CD40Lbase_D0015:g.11900T>C + D0015:g.11900T>C chrX 135466779 135466780 CD40Lbase_D0015:g.11908delG + D0015:g.11908delG chrX 135466802 135466803 CD40Lbase_D0015:g.11931delA + D0015:g.11931delA chrX 135466803 135466804 CD40Lbase_D0015:g.11932C>T + D0015:g.11932C>T chrX 135466806 135466807 CD40Lbase_D0015:g.11935G>T + D0015:g.11935G>T chrX 135466812 135466813 CD40Lbase_D0015:g.11941T>G + D0015:g.11941T>G chrX 135466812 135466813 CD40Lbase_D0015:g.11941T>A + D0015:g.11941T>A chrX 135466816 135466817 CD40Lbase_D0015:g.11945A>G + D0015:g.11945A>G chrX 135466815 135466824 CD40Lbase_D0015:g.11944_11952delTATATCTAT + D0015:g.11944_11952delTATATCTAT chrX 135466818 135466821 CD40Lbase_D0015:g.11947_11949delATC + D0015:g.11947_11949delATC chrX 135466818 135466820 CD40Lbase_D0015:g.11947_11948delAT + D0015:g.11947_11948delAT chrX 135466825 135466826 CD40Lbase_D0015:g.11954C>A + D0015:g.11954C>A chrX 135466828 135466829 CD40Lbase_D0015:g.11957A>G + D0015:g.11957A>G chrX 135466827 135466828 CD40Lbase_D0015:g.11956C>T + D0015:g.11956C>T chrX 135466828 135466830 CD40Lbase_D0015:g.11957_11958delAA + D0015:g.11957_11958delAA chrX 135466834 135466835 CD40Lbase_D0015:g.11963C>T + D0015:g.11963C>T chrX 135466846 135466847 CD40Lbase_D0015:g.11975delA + D0015:g.11975delA chrX 135466853 135466855 CD40Lbase_D0015:g.11982_11983insATA + D0015:g.11982_11983insATA chrX 135466858 135466859 CD40Lbase_D0015:g.11987C>A + D0015:g.11987C>A chrX 135466863 135466864 CD40Lbase_D0015:g.11992C>T + D0015:g.11992C>T chrX 135466866 135466867 CD40Lbase_D0015:g.11995delG + D0015:g.11995delG chrX 135466884 135466886 CD40Lbase_D0015:g.12013_12014insCT + D0015:g.12013_12014insCT chrX 135466884 135466886 CD40Lbase_D0015:g.12013_12014insCAGCC + D0015:g.12013_12014insCAGCC chrX 135466891 135466892 CD40Lbase_D0015:g.12020T>C + D0015:g.12020T>C chrX 135466896 135466897 CD40Lbase_D0015:g.12025delT + D0015:g.12025delT chrX 135466905 135466906 CD40Lbase_D0015:g.12034A>T + D0015:g.12034A>T chrX 135466911 135466912 CD40Lbase_D0015:g.12040G>T + D0015:g.12040G>T chrX 135466911 135466913 CD40Lbase_D0015:g.12040_12041insA + D0015:g.12040_12041insA chrX 135466915 135466916 CD40Lbase_D0015:g.12044G>T + D0015:g.12044G>T chrX 135466930 135466931 CD40Lbase_D0015:g.12059C>A + D0015:g.12059C>A chrX 135466943 135466945 CD40Lbase_D0015:g.12072_12073delCA + D0015:g.12072_12073delCA chrX 135466961 135466962 CD40Lbase_D0015:g.12090C>A + D0015:g.12090C>A chrX 135466958 135466960 CD40Lbase_D0015:g.12087_12088insT + D0015:g.12087_12088insT chrX 135466965 135466966 CD40Lbase_D0015:g.12094C>T + D0015:g.12094C>T chrX 135466968 135466969 CD40Lbase_D0015:g.12097C>T + D0015:g.12097C>T chrX 135466972 135466973 CD40Lbase_D0015:g.12101C>T + D0015:g.12101C>T chrX 135466977 135466978 CD40Lbase_D0015:g.12106C>T + D0015:g.12106C>T chrX 135466984 135466985 CD40Lbase_D0015:g.12113G>C + D0015:g.12113G>C chrX 135466987 135466988 CD40Lbase_D0015:g.12116G>T + D0015:g.12116G>T chrX 135466986 135466989 CD40Lbase_D0015:g.12115_12117delGGA + D0015:g.12115_12117delGGA chrX 135466990 135466992 CD40Lbase_D0015:g.12119_12120insATT + D0015:g.12119_12120insATT chrX 135466999 135467000 CD40Lbase_D0015:g.12128T>C + D0015:g.12128T>C chrX 135467001 135467002 CD40Lbase_D0015:g.12130C>T + D0015:g.12130C>T chrX 135467010 135467011 CD40Lbase_D0015:g.12139G>C + D0015:g.12139G>C chrX 135467014 135467015 CD40Lbase_D0015:g.12143C>A + D0015:g.12143C>A chrX 135467017 135467018 CD40Lbase_D0015:g.12146T>A + D0015:g.12146T>A chrX 135467016 135467018 CD40Lbase_D0015:g.12145_12146insC + D0015:g.12145_12146insC chrX 135467033 135467035 CD40Lbase_D0015:g.12162_12163delTG + D0015:g.12162_12163delTG chrX 135467068 135467069 CD40Lbase_D0015:g.12197C>T + D0015:g.12197C>T chrX 135467077 135467078 CD40Lbase_D0015:g.12206G>A + D0015:g.12206G>A chrX 135467076 135467077 CD40Lbase_D0015:g.12205G>A + D0015:g.12205G>A chrX 135467080 135467081 CD40Lbase_D0015:g.12209T>C + D0015:g.12209T>C chrX 135467083 135467084 CD40Lbase_D0015:g.12212delT + D0015:g.12212delT chrX 135455736 135455737 CD40Lbase_D0015:g.865A>C + D0015:g.865A>C chrX 135456083 135456084 CD40Lbase_D0015:g.1212G>T + D0015:g.1212G>T chrX 135456083 135456084 CD40Lbase_D0015:g.1212G>A + D0015:g.1212G>A chrX 135457939 135457948 CD40Lbase_D0015:g.3068_3076delAATAGATAG + D0015:g.3068_3076delAATAGATAG chrX 135457940 135457948 CD40Lbase_D0015:g.3069_3076delATAGATAG + D0015:g.3069_3076delATAGATAG chrX 135458076 135458077 CD40Lbase_D0015:g.3205G>T + D0015:g.3205G>T chrX 135458076 135458077 CD40Lbase_D0015:g.3205G>A + D0015:g.3205G>A chrX 135458077 135458078 CD40Lbase_D0015:g.3206T>A + D0015:g.3206T>A chrX 135462112 135462113 CD40Lbase_D0015:g.7241G>C + D0015:g.7241G>C chrX 135462113 135462114 CD40Lbase_D0015:g.7242G>T + D0015:g.7242G>T chrX 135462110 135462111 CD40Lbase_D0015:g.7239T>C + D0015:g.7239T>C chrX 135462113 135462114 CD40Lbase_D0015:g.7242G>A + D0015:g.7242G>A chrX 135464033 135464034 CD40Lbase_D0015:g.9162G>A + D0015:g.9162G>A chrX 135462109 135462110 CD40Lbase_D0015:g.7238G>T + D0015:g.7238G>T chrX 135462109 135462110 CD40Lbase_D0015:g.7238G>A + D0015:g.7238G>A chrX 135464033 135464034 CD40Lbase_D0015:g.9162G>C + D0015:g.9162G>C chrX 135463119 135463120 CD40Lbase_D0015:g.8248A>T + D0015:g.8248A>T chrX 135464099 135464100 CD40Lbase_D0015:g.9228A>T + D0015:g.9228A>T chrX 135466716 135466717 CD40Lbase_D0015:g.11845delG + D0015:g.11845delG chrX 135464097 135464098 CD40Lbase_D0015:g.9226G>C + D0015:g.9226G>C chrX 135464098 135464099 CD40Lbase_D0015:g.9227T>C + D0015:g.9227T>C chrX 135464097 135464098 CD40Lbase_D0015:g.9226G>A + D0015:g.9226G>A chr1 203884281 203884282 CD55base_D0104:g.2023G>A + D0104:g.2023G>A chr1 203887390 203887391 CD55base_D0104:g.5132C>T + D0104:g.5132C>T chr1 203888508 203888509 CD55base_D0104:g.6250C>T + D0104:g.6250C>T chr1 203884283 203884284 CD55base_D0104:g.2025C>A + D0104:g.2025C>A chr11 33695537 33695538 CD59base_D0016:g.20063delC - D0016:g.20063delC chr19 47075442 47075443 CD79Abase_D0017:g.2924A>G + D0017:g.2924A>G chr19 47075199 47075200 CD79Abase_D0017:g.2685G>A + D0017:g.2685G>A chr17 59361186 59361187 CD79Bbase_D0126:g.2550G>A - D0126:g.2550G>A chr2 86929180 86929181 CD8Abase_D0018:g.1044G>A - D0018:g.1044G>A chr2 86929180 86929181 CD8Abase_M27161.1:g.1044G>A - M27161.1:g.1044G>A chr14 22657887 22657892 CEBPEbase_D0019:g.2063_2067delTGACC - D0019:g.2063_2067delTGACC chr14 22657631 22657632 CEBPEbase_D0019:g.2323dupA - D0019:g.2323dupA chr14 22656728 22656729 CEBPEbase_D0019:g.3225T>C - D0019:g.3225T>C chr19 811685 811686 CFDbase_D0027:g.317660C>A + D0027:g.317660C>A chr19 814113 814114 CFDbase_D0027:g.320088T>G + D0027:g.320088T>G chr19 814115 814116 CFDbase_D0027:g.320090T>C + D0027:g.320090T>C chr4 111030150 111030151 CFHbase_D0040:g.51581A>G - D0040:g.51581A>G chr4 111031260 111031261 CFIbase_D0040:g.50471G>A - D0040:g.50471G>A chr4 111031254 111031255 CFIbase_D0040:g.50477G>T - D0040:g.50477G>T chr4 111024990 111024991 CFIbase_D0040:g.56741C>T - D0040:g.56741C>T chr4 111039282 111039283 CFIbase_D0040:g.42449G>A - D0040:g.42449G>A chr4 111025157 111025158 CFIbase_D0040:g.56574A>T - D0040:g.56574A>T chrX 47243922 47243923 CFPbase_D0066:g.3781C>T - D0066:g.3781C>T chrX 47243859 47243860 CFPbase_D0066:g.3844C>T - D0066:g.3844C>T chrX 47243216 47243217 CFPbase_D0066:g.4487C>T - D0066:g.4487C>T chrX 47243138 47243139 CFPbase_D0066:g.4565C>T - D0066:g.4565C>T chrX 47242942 47242943 CFPbase_D0066:g.4761C>G - D0066:g.4761C>G chrX 47242888 47242890 CFPbase_D0066:g.4814_4815delTG - D0066:g.4814_4815delTG chrX 47242575 47242583 CFPbase_D0066:g.5121_5128delGCCTTGGG - D0066:g.5121_5128delGCCTTGGG chrX 47242472 47242473 CFPbase_D0066:g.5231G>T - D0066:g.5231G>T chrX 47242151 47242152 CFPbase_D0066:g.5552T>G - D0066:g.5552T>G chrX 47242150 47242151 CFPbase_D0066:g.5553G>C - D0066:g.5553G>C chrX 47242084 47242085 CFPbase_D0066:g.5619A>G - D0066:g.5619A>G chrX 47242076 47242077 CFPbase_D0066:g.5627C>T - D0066:g.5627C>T chr16 10907990 10907991 CIITAbase_D0058:g.31469G>T + D0058:g.31469G>T chr16 10923848 10923849 CIITAbase_D0058:g.47354G>A + D0058:g.47354G>A chr16 10908255 10908256 CIITAbase_D0058:g.31734T>C + D0058:g.31734T>C chr16 10908912 10908913 CIITAbase_D0058:g.32391G>A + D0058:g.32391G>A chr16 10911613 10911614 CIITAbase_D0058:g.35092T>C + D0058:g.35092T>C chr16 10919812 10919815 CIITAbase_D0058:g.43309_43311delCAT + D0058:g.43309_43311delCAT chr16 10923603 10923615 CIITAbase_D0058:g.47109_47120del + D0058:g.47109_47120del chr11 87710416 87710417 CTSCbase_D0022:g.1170C>A - D0022:g.1170C>A chr11 87685273 87685274 CTSCbase_D0022:g.26313G>A - D0022:g.26313G>A chr11 87710398 87710399 CTSCbase_D0022:g.1188C>A - D0022:g.1188C>A chr11 87710392 87710393 CTSCbase_D0022:g.1194T>G - D0022:g.1194T>G chr11 87685308 87685309 CTSCbase_D0022:g.26278A>C - D0022:g.26278A>C chr11 87669022 87669023 CTSCbase_D0022:g.42564G>C - D0022:g.42564G>C chr11 87710372 87710376 CTSCbase_D0022:g.1211_1214delCCTG - D0022:g.1211_1214delCCTG chr11 87668986 87668987 CTSCbase_D0022:g.42600G>A - D0022:g.42600G>A chr11 87710372 87710373 CTSCbase_D0022:g.1214G>C - D0022:g.1214G>C chr11 87710343 87710344 CTSCbase_D0022:g.1243C>T - D0022:g.1243C>T chr11 87707848 87707872 CTSCbase_D0022:g.3715_3738del - D0022:g.3715_3738del chr11 87707865 87707866 CTSCbase_D0022:g.3721C>T - D0022:g.3721C>T chr11 87673345 87673346 CTSCbase_D0022:g.38241G>A - D0022:g.38241G>A chr11 87667057 87667058 CTSCbase_D0022:g.44529G>C - D0022:g.44529G>C chr11 87667072 87667073 CTSCbase_D0022:g.44514delC - D0022:g.44514delC chr11 87673396 87673397 CTSCbase_D0022:g.38190G>T - D0022:g.38190G>T chr11 87669059 87669060 CTSCbase_D0022:g.42527T>C - D0022:g.42527T>C chr11 87685243 87685245 CTSCbase_D0022:g.26342_26343insATGT - D0022:g.26342_26343insATGT chr11 87682064 87682065 CTSCbase_D0022:g.29522G>A - D0022:g.29522G>A chr11 87682047 87682054 CTSCbase_D0022:g.29533_29539delCATACAT - D0022:g.29533_29539delCATACAT chr11 87682032 87682033 CTSCbase_D0022:g.29554T>C - D0022:g.29554T>C chr11 87681997 87681998 CTSCbase_D0022:g.29589dupC - D0022:g.29589dupC chr11 87681991 87681992 CTSCbase_D0022:g.29595C>T - D0022:g.29595C>T chr11 87681989 87681991 CTSCbase_D0022:g.29596_29597delGA - D0022:g.29596_29597delGA chr11 87673398 87673399 CTSCbase_D0022:g.38188G>A - D0022:g.38188G>A chr11 87668965 87668966 CTSCbase_D0022:g.42621G>A - D0022:g.42621G>A chr11 87673357 87673358 CTSCbase_D0022:g.38229G>T - D0022:g.38229G>T chr11 87673354 87673355 CTSCbase_D0022:g.38232C>T - D0022:g.38232C>T chr11 87673347 87673348 CTSCbase_D0022:g.38239A>T - D0022:g.38239A>T chr11 87669022 87669023 CTSCbase_D0022:g.42564G>A - D0022:g.42564G>A chr11 87666978 87666979 CTSCbase_D0022:g.44608A>G - D0022:g.44608A>G chr11 87668980 87668981 CTSCbase_D0022:g.42606A>G - D0022:g.42606A>G chr11 87668981 87668982 CTSCbase_D0022:g.42605C>T - D0022:g.42605C>T chr11 87668957 87668958 CTSCbase_D0022:g.42629T>C - D0022:g.42629T>C chr11 87667315 87667316 CTSCbase_D0022:g.44271G>A - D0022:g.44271G>A chr11 87666873 87666874 CTSCbase_D0022:g.44713A>G - D0022:g.44713A>G chr11 87667312 87667313 CTSCbase_D0022:g.44274G>A - D0022:g.44274G>A chr11 87667311 87667312 CTSCbase_D0022:g.44275G>T - D0022:g.44275G>T chr11 87667303 87667304 CTSCbase_D0022:g.44283T>A - D0022:g.44283T>A chr11 87667301 87667302 CTSCbase_D0022:g.44285C>A - D0022:g.44285C>A chr11 87667278 87667279 CTSCbase_D0022:g.44308A>G - D0022:g.44308A>G chr11 87667266 87667267 CTSCbase_D0022:g.44320T>G - D0022:g.44320T>G chr11 87666945 87666946 CTSCbase_D0022:g.44641G>C - D0022:g.44641G>C chr11 87667257 87667258 CTSCbase_D0022:g.44329A>G - D0022:g.44329A>G chr11 87667223 87667230 CTSCbase_D0022:g.44357_44363delTTCTCCA - D0022:g.44357_44363delTTCTCCA chr11 87667198 87667199 CTSCbase_D0022:g.44388C>T - D0022:g.44388C>T chr11 87667184 87667186 CTSCbase_D0022:g.44401_44402delCT - D0022:g.44401_44402delCT chr11 87667173 87667174 CTSCbase_D0022:g.44413A>G - D0022:g.44413A>G chr11 87667166 87667167 CTSCbase_D0022:g.44420delA - D0022:g.44420delA chr11 87667157 87667158 CTSCbase_D0022:g.44429delT - D0022:g.44429delT chr11 87666926 87666927 CTSCbase_D0022:g.44660G>C - D0022:g.44660G>C chr11 87667000 87667001 CTSCbase_D0022:g.44586C>A - D0022:g.44586C>A chr11 87666999 87667000 CTSCbase_D0022:g.44587A>G - D0022:g.44587A>G chr11 87666998 87667001 CTSCbase_D0022:g.44586_44588delCAT - D0022:g.44586_44588delCAT chr11 87666927 87666928 CTSCbase_D0022:g.44659G>A - D0022:g.44659G>A chr11 87685370 87685371 CTSCbase_D0022:g.26216G>A - D0022:g.26216G>A chr11 87682134 87682135 CTSCbase_D0022:g.29452G>A - D0022:g.29452G>A chr2 136706229 136706230 CXCR4base_D0023:g.4169C>T - D0023:g.4169C>T chr2 136706223 136706224 CXCR4base_D0023:g.4175G>T - D0023:g.4175G>T chr2 136706216 136706217 CXCR4base_D0023:g.4182C>G - D0023:g.4182C>G chr2 136706212 136706214 CXCR4base_D0023:g.4185_4186delCT - D0023:g.4185_4186delCT chr2 136706202 136706203 CXCR4base_D0023:g.4196G>T - D0023:g.4196G>T chr16 87244915 87244916 CYBAbase_D0024:g.1035C>T - D0024:g.1035C>T chr16 87242007 87242008 CYBAbase_D0024:g.3943G>T - D0024:g.3943G>T chr16 87244896 87244897 CYBAbase_D0024:g.1054G>A - D0024:g.1054G>A chr16 87244895 87244896 CYBAbase_D0024:g.1055G>A - D0024:g.1055G>A chr16 87244857 87244861 CYBAbase_D0024:g.1090_1093delAGTG - D0024:g.1090_1093delAGTG chr16 87242011 87242012 CYBAbase_D0024:g.3939G>A - D0024:g.3939G>A chr16 87237478 87237479 CYBAbase_D0024:g.8472C>T - D0024:g.8472C>T chr16 87241974 87241975 CYBAbase_D0024:g.3976G>A - D0024:g.3976G>A chr16 87241057 87241058 CYBAbase_D0024:g.4893T>C - D0024:g.4893T>C chr16 87241054 87241055 CYBAbase_D0024:g.4896A>T - D0024:g.4896A>T chr16 87241040 87241042 CYBAbase_D0024:g.4909_4910insG - D0024:g.4909_4910insG chr16 87241045 87241047 CYBAbase_D0024:g.4904_4905insC - D0024:g.4904_4905insC chr16 87240682 87240683 CYBAbase_D0024:g.5268C>T - D0024:g.5268C>T chr16 87240704 87240705 CYBAbase_D0024:g.5246delC - D0024:g.5246delC chr16 87240681 87240682 CYBAbase_D0024:g.5269G>A - D0024:g.5269G>A chr16 87240669 87240670 CYBAbase_D0024:g.5281A>G - D0024:g.5281A>G chr16 87240092 87240099 CYBAbase_D0024:g.5852_5858delGTGCCCG - D0024:g.5852_5858delGTGCCCG chr16 87240039 87240040 CYBAbase_D0024:g.5911C>A - D0024:g.5911C>A chr16 87237382 87237383 CYBAbase_D0024:g.8568C>A - D0024:g.8568C>A chr16 87237365 87237378 CYBAbase_D0024:g.8573_8585del - D0024:g.8573_8585del chr16 87240085 87240121 CYBAbase_D0024:g.5830_5865del - D0024:g.5830_5865del chr16 87240023 87240024 CYBAbase_D0024:g.5927G>C - D0024:g.5927G>C chrX 37395548 37395549 CYBBbase_D0025:g.1016T>A + D0025:g.1016T>A chrX 37395548 37395549 CYBBbase_D0025:g.1016T>G + D0025:g.1016T>G chrX 37395547 37395548 CYBBbase_D0025:g.1015A>G + D0025:g.1015A>G chrX 37395552 37395554 CYBBbase_D0025:g.1020_1021insG + D0025:g.1020_1021insG chrX 37395558 37395559 CYBBbase_D0025:g.1026G>A + D0025:g.1026G>A chrX 37395557 37395558 CYBBbase_D0025:g.1025G>A + D0025:g.1025G>A chrX 37395560 37395574 CYBBbase_D0025:g.1028_1041del + D0025:g.1028_1041del chrX 37395569 37395571 CYBBbase_D0025:g.1037_1038insAGGG + D0025:g.1037_1038insAGGG chrX 37395573 37395574 CYBBbase_D0025:g.1041dupG + D0025:g.1041dupG chrX 37395586 37395587 CYBBbase_D0025:g.1054delG + D0025:g.1054delG chrX 37397558 37397559 CYBBbase_D0025:g.3026delT + D0025:g.3026delT chrX 37397560 37397561 CYBBbase_D0025:g.3028delG + D0025:g.3028delG chrX 37397565 37397566 CYBBbase_D0025:g.3033G>C + D0025:g.3033G>C chrX 37397564 37397565 CYBBbase_D0025:g.3032G>A + D0025:g.3032G>A chrX 37397563 37397564 CYBBbase_D0025:g.3031T>A + D0025:g.3031T>A chrX 37397563 37397564 CYBBbase_D0025:g.3031T>T + D0025:g.3031T>T chrX 37397563 37397565 CYBBbase_D0025:g.3031_3032insT + D0025:g.3031_3032insT chrX 37397569 37397570 CYBBbase_D0025:g.3037G>C + D0025:g.3037G>C chrX 37397577 37397579 CYBBbase_D0025:g.3045_3046insAACG + D0025:g.3045_3046insAACG chrX 37397591 37397595 CYBBbase_D0025:g.3059_3062delTCTG + D0025:g.3059_3062delTCTG chrX 37397595 37397596 CYBBbase_D0025:g.3063G>A + D0025:g.3063G>A chrX 37397594 37397595 CYBBbase_D0025:g.3062G>A + D0025:g.3062G>A chrX 37397610 37397611 CYBBbase_D0025:g.3078T>A + D0025:g.3078T>A chrX 37397632 37397633 CYBBbase_D0025:g.3100T>G + D0025:g.3100T>G chrX 37397632 37397633 CYBBbase_D0025:g.3100delT + D0025:g.3100delT chrX 37397632 37397634 CYBBbase_D0025:g.3100_3101insT + D0025:g.3100_3101insT chrX 37397638 37397639 CYBBbase_D0025:g.3106A>T + D0025:g.3106A>T chrX 37398959 37398977 CYBBbase_D0025:g.4427_4444delinsCCTGCCTGAATTTCT + D0025:g.4427_4444delinsCCTGCCTGAATTTCT chrX 37398975 37398976 CYBBbase_D0025:g.4443C>A + D0025:g.4443C>A chrX 37398974 37398976 CYBBbase_D0025:g.4442_4443insC + D0025:g.4442_4443insC chrX 37398977 37398978 CYBBbase_D0025:g.4445A>G + D0025:g.4445A>G chrX 37398978 37398979 CYBBbase_D0025:g.4446G>T + D0025:g.4446G>T chrX 37398979 37398980 CYBBbase_D0025:g.4447G>C + D0025:g.4447G>C chrX 37398981 37398982 CYBBbase_D0025:g.4449C>A + D0025:g.4449C>A chrX 37398984 37398985 CYBBbase_D0025:g.4452C>T + D0025:g.4452C>T chrX 37398987 37398988 CYBBbase_D0025:g.4455C>A + D0025:g.4455C>A chrX 37398993 37398994 CYBBbase_D0025:g.4461G>T + D0025:g.4461G>T chrX 37398992 37398993 CYBBbase_D0025:g.4460T>C + D0025:g.4460T>C chrX 37398994 37398995 CYBBbase_D0025:g.4462C>G + D0025:g.4462C>G chrX 37398993 37398994 CYBBbase_D0025:g.4461G>A + D0025:g.4461G>A chrX 37398999 37399005 CYBBbase_D0025:g.4467_4472delATTTCA + D0025:g.4467_4472delATTTCA chrX 37399006 37399007 CYBBbase_D0025:g.4474C>G + D0025:g.4474C>G chrX 37399007 37399008 CYBBbase_D0025:g.4475T>C + D0025:g.4475T>C chrX 37399009 37399010 CYBBbase_D0025:g.4477C>A + D0025:g.4477C>A chrX 37399012 37399014 CYBBbase_D0025:g.4480_4481insG + D0025:g.4480_4481insG chrX 37399034 37399035 CYBBbase_D0025:g.4502C>T + D0025:g.4502C>T chrX 37399059 37399060 CYBBbase_D0025:g.4527delG + D0025:g.4527delG chrX 37399069 37399070 CYBBbase_D0025:g.4537G>A + D0025:g.4537G>A chrX 37399069 37399070 CYBBbase_CYBB_DNA:g.4537G>A + CYBB_DNA:g.4537G>A chrX 37399068 37399069 CYBBbase_D0025:g.4536delC + D0025:g.4536delC chrX 37407442 37407443 CYBBbase_D0025:g.12910C>A + D0025:g.12910C>A chrX 37407482 37407483 CYBBbase_D0025:g.12950delA + D0025:g.12950delA chrX 37407489 37407490 CYBBbase_D0025:g.12957A>G + D0025:g.12957A>G chrX 37407488 37407489 CYBBbase_D0025:g.12956C>T + D0025:g.12956C>T chrX 37407505 37407506 CYBBbase_D0025:g.12973G>A + D0025:g.12973G>A chrX 37407507 37407508 CYBBbase_D0025:g.12975T>G + D0025:g.12975T>G chrX 37407508 37407510 CYBBbase_D0025:g.12976_12977insG + D0025:g.12976_12977insG chrX 37407513 37407515 CYBBbase_D0025:g.12981_12982delCA + D0025:g.12981_12982delCA chrX 37409137 37409138 CYBBbase_D0025:g.14605C>A + D0025:g.14605C>A chrX 37409135 37409136 CYBBbase_D0025:g.14603C>T + D0025:g.14603C>T chrX 37409146 37409147 CYBBbase_D0025:g.14614delA + D0025:g.14614delA chrX 37409148 37409149 CYBBbase_D0025:g.14616A>G + D0025:g.14616A>G chrX 37409148 37409150 CYBBbase_D0025:g.14616_14617insA + D0025:g.14616_14617insA chrX 37409151 37409152 CYBBbase_D0025:g.14619T>C + D0025:g.14619T>C chrX 37409167 37409168 CYBBbase_D0025:g.14635G>T + D0025:g.14635G>T chrX 37409167 37409168 CYBBbase_D0025:g.14635G>A + D0025:g.14635G>A chrX 37409180 37409181 CYBBbase_D0025:g.14648C>T + D0025:g.14648C>T chrX 37409180 37409182 CYBBbase_D0025:g.14648_14649insT + D0025:g.14648_14649insT chrX 37409187 37409188 CYBBbase_D0025:g.14655delA + D0025:g.14655delA chrX 37409214 37409215 CYBBbase_D0025:g.14682T>C + D0025:g.14682T>C chrX 37409216 37409217 CYBBbase_D0025:g.14684T>C + D0025:g.14684T>C chrX 37409234 37409235 CYBBbase_D0025:g.14702C>T + D0025:g.14702C>T chrX 37409238 37409240 CYBBbase_D0025:g.14706_14707insA + D0025:g.14706_14707insA chrX 37409248 37409249 CYBBbase_D0025:g.14716T>A + D0025:g.14716T>A chrX 37409247 37409249 CYBBbase_D0025:g.14715_14716delAT + D0025:g.14715_14716delAT chrX 37409258 37409259 CYBBbase_D0025:g.14726G>A + D0025:g.14726G>A chrX 37409261 37409262 CYBBbase_D0025:g.14729C>T + D0025:g.14729C>T chrX 37409264 37409268 CYBBbase_D0025:g.14732_14735delAAGA + D0025:g.14732_14735delAAGA chrX 37409271 37409273 CYBBbase_D0025:g.14739_14740insT + D0025:g.14739_14740insT chrX 37409275 37409276 CYBBbase_D0025:g.14743G>T + D0025:g.14743G>T chrX 37409274 37409275 CYBBbase_D0025:g.14742A>G + D0025:g.14742A>G chrX 37411449 37411450 CYBBbase_D0025:g.16917delC + D0025:g.16917delC chrX 37411467 37411468 CYBBbase_D0025:g.16935G>A + D0025:g.16935G>A chrX 37411487 37411488 CYBBbase_D0025:g.16955C>A + D0025:g.16955C>A chrX 37411486 37411487 CYBBbase_D0025:g.16954delG + D0025:g.16954delG chrX 37411492 37411494 CYBBbase_D0025:g.16960_16961insCCTCAT + D0025:g.16960_16961insCCTCAT chrX 37411492 37411494 CYBBbase_D0025:g.16960_16961dupCCTCAT + D0025:g.16960_16961dupCCTCAT chrX 37411497 37411501 CYBBbase_D0025:g.16965_16968delATTA + D0025:g.16965_16968delATTA chrX 37411510 37411511 CYBBbase_D0025:g.16978C>T + D0025:g.16978C>T chrX 37411527 37411528 CYBBbase_D0025:g.16995delA + D0025:g.16995delA chrX 37411535 37411536 CYBBbase_D0025:g.17003delC + D0025:g.17003delC chrX 37411539 37411540 CYBBbase_D0025:g.17007G>T + D0025:g.17007G>T chrX 37411545 37411546 CYBBbase_D0025:g.17013T>A + D0025:g.17013T>A chrX 37411553 37411554 CYBBbase_D0025:g.17021C>A + D0025:g.17021C>A chrX 37411559 37411560 CYBBbase_D0025:g.17027T>A + D0025:g.17027T>A chrX 37411558 37411559 CYBBbase_D0025:g.17026A>G + D0025:g.17026A>G chrX 37411557 37411558 CYBBbase_D0025:g.17025C>T + D0025:g.17025C>T chrX 37411557 37411559 CYBBbase_D0025:g.17025_17026delCA + D0025:g.17025_17026delCA chrX 37411563 37411565 CYBBbase_D0025:g.17031_17032dupCATC + D0025:g.17031_17032dupCATC chrX 37411578 37411581 CYBBbase_D0025:g.17046_17048delTTC + D0025:g.17046_17048delTTC chrX 37411596 37411597 CYBBbase_D0025:g.17064C>A + D0025:g.17064C>A chrX 37411597 37411598 CYBBbase_D0025:g.17065A>G + D0025:g.17065A>G chrX 37411596 37411597 CYBBbase_D0025:g.17064C>T + D0025:g.17064C>T chrX 37411599 37411600 CYBBbase_D0025:g.17067G>T + D0025:g.17067G>T chrX 37411603 37411604 CYBBbase_D0025:g.17071C>G + D0025:g.17071C>G chrX 37414421 37414422 CYBBbase_D0025:g.19889C>T + D0025:g.19889C>T chrX 37414436 37414437 CYBBbase_D0025:g.19904C>T + D0025:g.19904C>T chrX 37414445 37414446 CYBBbase_D0025:g.19913G>T + D0025:g.19913G>T chrX 37414448 37414450 CYBBbase_D0025:g.19916_19917delAG + D0025:g.19916_19917delAG chrX 37414452 37414454 CYBBbase_D0025:g.19920_19921insTT + D0025:g.19920_19921insTT chrX 37414461 37414466 CYBBbase_D0025:g.19929_19933delATAAT + D0025:g.19929_19933delATAAT chrX 37414475 37414476 CYBBbase_D0025:g.19943T>G + D0025:g.19943T>G chrX 37414475 37414476 CYBBbase_D0025:g.19943T>C + D0025:g.19943T>C chrX 37414476 37414477 CYBBbase_D0025:g.19944G>C + D0025:g.19944G>C chrX 37414476 37414477 CYBBbase_D0025:g.19944G>A + D0025:g.19944G>A chrX 37414481 37414482 CYBBbase_D0025:g.19949C>T + D0025:g.19949C>T chrX 37414487 37414489 CYBBbase_D0025:g.19955_19956insA + D0025:g.19955_19956insA chrX 37414487 37414488 CYBBbase_D0025:g.19955dupA + D0025:g.19955dupA chrX 37414497 37414498 CYBBbase_D0025:g.19965G>A + D0025:g.19965G>A chrX 37414500 37414501 CYBBbase_D0025:g.19968delG + D0025:g.19968delG chrX 37414505 37414507 CYBBbase_D0025:g.19973_19974insA + D0025:g.19973_19974insA chrX 37414516 37414517 CYBBbase_D0025:g.19984C>A + D0025:g.19984C>A chrX 37414526 37414527 CYBBbase_D0025:g.19994C>T + D0025:g.19994C>T chrX 37414526 37414528 CYBBbase_D0025:g.19994_19995delCA + D0025:g.19994_19995delCA chrX 37414533 37414534 CYBBbase_D0025:g.20001delC + D0025:g.20001delC chrX 37414542 37414543 CYBBbase_D0025:g.20010delC + D0025:g.20010delC chrX 37416732 37416733 CYBBbase_D0025:g.22200G>A + D0025:g.22200G>A chrX 37416731 37416732 CYBBbase_D0025:g.22199G>A + D0025:g.22199G>A chrX 37416760 37416791 CYBBbase_D0025:g.22228_22258del + D0025:g.22228_22258del chrX 37416783 37416784 CYBBbase_D0025:g.22251G>A + D0025:g.22251G>A chrX 37416784 37416785 CYBBbase_D0025:g.22252C>T + D0025:g.22252C>T chrX 37416786 37416795 CYBBbase_D0025:g.22254_22262delATCTCAACA + D0025:g.22254_22262delATCTCAACA chrX 37416813 37416814 CYBBbase_D0025:g.22281G>T + D0025:g.22281G>T chrX 37419355 37419356 CYBBbase_D0025:g.24823C>A + D0025:g.24823C>A chrX 37419359 37419360 CYBBbase_D0025:g.24827C>G + D0025:g.24827C>G chrX 37419363 37419364 CYBBbase_D0025:g.24831delC + D0025:g.24831delC chrX 37419364 37419365 CYBBbase_D0025:g.24832A>T + D0025:g.24832A>T chrX 37419367 37419368 CYBBbase_D0025:g.24835A>C + D0025:g.24835A>C chrX 37419367 37419368 CYBBbase_D0025:g.24835delA + D0025:g.24835delA chrX 37419373 37419374 CYBBbase_D0025:g.24841G>A + D0025:g.24841G>A chrX 37419383 37419384 CYBBbase_D0025:g.24851T>G + D0025:g.24851T>G chrX 37419391 37419394 CYBBbase_D0025:g.24859_24861delAAG + D0025:g.24859_24861delAAG chrX 37419396 37419397 CYBBbase_D0025:g.24864delG + D0025:g.24864delG chrX 37419406 37419407 CYBBbase_D0025:g.24874G>T + D0025:g.24874G>T chrX 37419408 37419409 CYBBbase_D0025:g.24876delA + D0025:g.24876delA chrX 37419413 37419414 CYBBbase_D0025:g.24881G>A + D0025:g.24881G>A chrX 37419413 37419414 CYBBbase_D0025:g.24881delG + D0025:g.24881delG chrX 37419415 37419416 CYBBbase_D0025:g.24883C>T + D0025:g.24883C>T chrX 37419421 37419422 CYBBbase_D0025:g.24889A>T + D0025:g.24889A>T chrX 37419427 37419428 CYBBbase_D0025:g.24895delG + D0025:g.24895delG chrX 37419441 37419442 CYBBbase_D0025:g.24909delG + D0025:g.24909delG chrX 37419445 37419446 CYBBbase_D0025:g.24913T>C + D0025:g.24913T>C chrX 37419454 37419455 CYBBbase_D0025:g.24922G>T + D0025:g.24922G>T chrX 37419458 37419459 CYBBbase_D0025:g.24926G>A + D0025:g.24926G>A chrX 37419458 37419459 CYBBbase_CYBB_DNA:g.24926G>A + CYBB_DNA:g.24926G>A chrX 37419460 37419461 CYBBbase_D0025:g.24928C>A + D0025:g.24928C>A chrX 37419460 37419461 CYBBbase_D0025:g.24928C>T + D0025:g.24928C>T chrX 37419464 37419465 CYBBbase_D0025:g.24932C>A + D0025:g.24932C>A chrX 37419464 37419465 CYBBbase_D0025:g.24932delC + D0025:g.24932delC chrX 37419464 37419466 CYBBbase_D0025:g.24932_24933insC + D0025:g.24932_24933insC chrX 37419470 37419471 CYBBbase_D0025:g.24938C>T + D0025:g.24938C>T chrX 37419470 37419471 CYBBbase_D0025:g.24938C>A + D0025:g.24938C>A chrX 37419473 37419474 CYBBbase_D0025:g.24941T>A + D0025:g.24941T>A chrX 37419475 37419476 CYBBbase_D0025:g.24943A>C + D0025:g.24943A>C chrX 37419479 37419480 CYBBbase_D0025:g.24947C>T + D0025:g.24947C>T chrX 37419480 37419481 CYBBbase_D0025:g.24948delC + D0025:g.24948delC chrX 37419486 37419487 CYBBbase_D0025:g.24954delT + D0025:g.24954delT chrX 37419509 37419510 CYBBbase_D0025:g.24977A>G + D0025:g.24977A>G chrX 37419510 37419520 CYBBbase_D0025:g.24978_24987del + D0025:g.24978_24987del chrX 37419515 37419516 CYBBbase_D0025:g.24983G>C + D0025:g.24983G>C chrX 37419523 37419524 CYBBbase_D0025:g.24991G>A + D0025:g.24991G>A chrX 37419524 37419525 CYBBbase_D0025:g.24992G>T + D0025:g.24992G>T chrX 37419531 37419532 CYBBbase_D0025:g.24999G>A + D0025:g.24999G>A chrX 37419542 37419543 CYBBbase_D0025:g.25010T>C + D0025:g.25010T>C chrX 37419553 37419554 CYBBbase_D0025:g.25021T>C + D0025:g.25021T>C chrX 37419577 37419578 CYBBbase_D0025:g.25045C>T + D0025:g.25045C>T chrX 37419587 37419588 CYBBbase_D0025:g.25055G>A + D0025:g.25055G>A chrX 37419595 37419599 CYBBbase_D0025:g.25063_25066delCCTA + D0025:g.25063_25066delCCTA chrX 37420489 37420490 CYBBbase_D0025:g.25957G>C + D0025:g.25957G>C chrX 37420488 37420489 CYBBbase_D0025:g.25956G>A + D0025:g.25956G>A chrX 37420492 37420493 CYBBbase_D0025:g.25960C>T + D0025:g.25960C>T chrX 37420513 37420515 CYBBbase_D0025:g.25981_25982delAT + D0025:g.25981_25982delAT chrX 37420537 37420538 CYBBbase_D0025:g.26005T>G + D0025:g.26005T>G chrX 37420546 37420547 CYBBbase_D0025:g.26014G>A + D0025:g.26014G>A chrX 37420545 37420546 CYBBbase_D0025:g.26013G>A + D0025:g.26013G>A chrX 37420560 37420562 CYBBbase_D0025:g.26028_26029insG + D0025:g.26028_26029insG chrX 37420567 37420568 CYBBbase_D0025:g.26035C>A + D0025:g.26035C>A chrX 37420567 37420568 CYBBbase_D0025:g.26035C>T + D0025:g.26035C>T chrX 37420567 37420568 CYBBbase_D0025:g.26035C>G + D0025:g.26035C>G chrX 37420578 37420579 CYBBbase_D0025:g.26046dupA + D0025:g.26046dupA chrX 37420582 37420583 CYBBbase_D0025:g.26050T>C + D0025:g.26050T>C chrX 37420587 37420588 CYBBbase_D0025:g.26055T>C + D0025:g.26055T>C chrX 37420595 37420596 CYBBbase_D0025:g.26063delG + D0025:g.26063delG chrX 37420598 37420599 CYBBbase_D0025:g.26066C>G + D0025:g.26066C>G chrX 37420607 37420608 CYBBbase_D0025:g.26075C>A + D0025:g.26075C>A chrX 37420632 37420633 CYBBbase_D0025:g.26100A>T + D0025:g.26100A>T chrX 37420636 37420637 CYBBbase_D0025:g.26104delA + D0025:g.26104delA chrX 37421856 37421857 CYBBbase_D0025:g.27324delA + D0025:g.27324delA chrX 37421861 37421862 CYBBbase_D0025:g.27329C>A + D0025:g.27329C>A chrX 37421867 37421868 CYBBbase_D0025:g.27335C>G + D0025:g.27335C>G chrX 37421870 37421871 CYBBbase_D0025:g.27338G>A + D0025:g.27338G>A chrX 37421874 37421875 CYBBbase_D0025:g.27342T>C + D0025:g.27342T>C chrX 37421876 37421877 CYBBbase_D0025:g.27344C>A + D0025:g.27344C>A chrX 37421889 37421894 CYBBbase_D0025:g.27357_27361delGCCTT + D0025:g.27357_27361delGCCTT chrX 37421891 37421892 CYBBbase_D0025:g.27359delC + D0025:g.27359delC chrX 37421895 37421896 CYBBbase_D0025:g.27363G>T + D0025:g.27363G>T chrX 37421898 37421899 CYBBbase_D0025:g.27366T>C + D0025:g.27366T>C chrX 37421899 37421900 CYBBbase_D0025:g.27367G>A + D0025:g.27367G>A chrX 37421900 37421901 CYBBbase_D0025:g.27368G>A + D0025:g.27368G>A chrX 37421925 37421926 CYBBbase_D0025:g.27393G>T + D0025:g.27393G>T chrX 37421937 37421938 CYBBbase_D0025:g.27405C>T + D0025:g.27405C>T chrX 37421956 37421957 CYBBbase_D0025:g.27424delG + D0025:g.27424delG chrX 37421969 37421970 CYBBbase_D0025:g.27437C>A + D0025:g.27437C>A chrX 37421990 37421991 CYBBbase_D0025:g.27458G>A + D0025:g.27458G>A chrX 37421988 37422001 CYBBbase_D0025:g.27456_27468del + D0025:g.27456_27468del chrX 37421996 37421997 CYBBbase_D0025:g.27464delG + D0025:g.27464delG chrX 37421996 37421998 CYBBbase_D0025:g.27464_27465insT + D0025:g.27464_27465insT chrX 37425038 37425039 CYBBbase_D0025:g.30506delC + D0025:g.30506delC chrX 37425071 37425072 CYBBbase_D0025:g.30539delA + D0025:g.30539delA chrX 37425073 37425074 CYBBbase_D0025:g.30541A>G + D0025:g.30541A>G chrX 37425072 37425073 CYBBbase_D0025:g.30540G>A + D0025:g.30540G>A chrX 37425072 37425073 CYBBbase_D0025:g.30540G>T + D0025:g.30540G>T chrX 37425088 37425089 CYBBbase_D0025:g.30556T>C + D0025:g.30556T>C chrX 37425088 37425089 CYBBbase_D0025:g.30556T>G + D0025:g.30556T>G chrX 37425093 37425094 CYBBbase_D0025:g.30561C>T + D0025:g.30561C>T chrX 37425096 37425098 CYBBbase_D0025:g.30564_30565delAA + D0025:g.30564_30565delAA chrX 37425097 37425098 CYBBbase_D0025:g.30565delA + D0025:g.30565delA chrX 37425102 37425104 CYBBbase_D0025:g.30570_30571delTT + D0025:g.30570_30571delTT chrX 37425106 37425113 CYBBbase_D0025:g.30574_30580delinsTTCA + D0025:g.30574_30580delinsTTCA chrX 37425122 37425123 CYBBbase_D0025:g.30590G>T + D0025:g.30590G>T chrX 37425120 37425121 CYBBbase_D0025:g.30588T>C + D0025:g.30588T>C chrX 37425122 37425123 CYBBbase_D0025:g.30590G>A + D0025:g.30590G>A chrX 37425121 37425122 CYBBbase_D0025:g.30589G>A + D0025:g.30589G>A chrX 37425129 37425130 CYBBbase_D0025:g.30597G>T + D0025:g.30597G>T chrX 37425135 37425136 CYBBbase_D0025:g.30603A>T + D0025:g.30603A>T chrX 37425139 37425140 CYBBbase_D0025:g.30607delC + D0025:g.30607delC chrX 37425152 37425153 CYBBbase_D0025:g.30620delA + D0025:g.30620delA chrX 37426274 37426275 CYBBbase_D0025:g.31742T>A + D0025:g.31742T>A chrX 37426273 37426288 CYBBbase_D0025:g.31741_31755del + D0025:g.31741_31755del chrX 37426280 37426282 CYBBbase_D0025:g.31748_31749insT + D0025:g.31748_31749insT chrX 37426282 37426283 CYBBbase_D0025:g.31750T>C + D0025:g.31750T>C chrX 37426291 37426292 CYBBbase_D0025:g.31759delG + D0025:g.31759delG chrX 37426298 37426299 CYBBbase_D0025:g.31766T>C + D0025:g.31766T>C chrX 37426298 37426300 CYBBbase_D0025:g.31766_31767insCCTT + D0025:g.31766_31767insCCTT chrX 37426310 37426311 CYBBbase_D0025:g.31778T>C + D0025:g.31778T>C chrX 37426318 37426319 CYBBbase_D0025:g.31786C>T + D0025:g.31786C>T chrX 37426335 37426337 CYBBbase_D0025:g.31803_31804insT + D0025:g.31803_31804insT chrX 37426335 37426336 CYBBbase_D0025:g.31803dupT + D0025:g.31803dupT chrX 37426352 37426353 CYBBbase_D0025:g.31820delG + D0025:g.31820delG chrX 37426355 37426386 CYBBbase_D0025:g.31823_31853del + D0025:g.31823_31853del chrX 37426375 37426376 CYBBbase_D0025:g.31843G>A + D0025:g.31843G>A chrX 37395478 37395479 CYBBbase_D0025:g.946A>C + D0025:g.946A>C chrX 37395480 37395481 CYBBbase_D0025:g.948T>C + D0025:g.948T>C chrX 37395482 37395483 CYBBbase_D0025:g.950C>T + D0025:g.950C>T chrX 37395483 37395484 CYBBbase_D0025:g.951C>T + D0025:g.951C>T chrX 37395596 37395597 CYBBbase_D0025:g.1064G>A + D0025:g.1064G>A chrX 37395597 37395598 CYBBbase_D0025:g.1065T>C + D0025:g.1065T>C chrX 37395592 37395593 CYBBbase_D0025:g.1060G>C + D0025:g.1060G>C chrX 37397556 37397557 CYBBbase_D0025:g.3024G>A + D0025:g.3024G>A chrX 37397555 37397556 CYBBbase_D0025:g.3023A>G + D0025:g.3023A>G chrX 37395592 37395593 CYBBbase_D0025:g.1060G>A + D0025:g.1060G>A chrX 37397556 37397557 CYBBbase_D0025:g.3024G>T + D0025:g.3024G>T chrX 37398957 37398958 CYBBbase_D0025:g.4425A>G + D0025:g.4425A>G chrX 37397654 37397655 CYBBbase_D0025:g.3122T>G + D0025:g.3122T>G chrX 37397653 37397654 CYBBbase_D0025:g.3121G>A + D0025:g.3121G>A chrX 37397653 37397654 CYBBbase_D0025:g.3121G>T + D0025:g.3121G>T chrX 37397654 37397655 CYBBbase_D0025:g.3122T>C + D0025:g.3122T>C chrX 37399074 37399075 CYBBbase_D0025:g.4542G>A + D0025:g.4542G>A chrX 37399074 37399075 CYBBbase_D0025:g.4542G>C + D0025:g.4542G>C chrX 37399070 37399071 CYBBbase_D0025:g.4538G>T + D0025:g.4538G>T chrX 37399070 37399071 CYBBbase_D0025:g.4538G>A + D0025:g.4538G>A chrX 37409128 37409129 CYBBbase_D0025:g.14596A>C + D0025:g.14596A>C chrX 37407525 37407526 CYBBbase_D0025:g.12993G>C + D0025:g.12993G>C chrX 37409129 37409130 CYBBbase_D0025:g.14597G>A + D0025:g.14597G>A chrX 37409128 37409129 CYBBbase_D0025:g.14596A>G + D0025:g.14596A>G chrX 37409278 37409279 CYBBbase_D0025:g.14746A>T + D0025:g.14746A>T chrX 37409276 37409277 CYBBbase_D0025:g.14744G>T + D0025:g.14744G>T chrX 37409280 37409281 CYBBbase_D0025:g.14748G>A + D0025:g.14748G>A chrX 37409277 37409278 CYBBbase_D0025:g.14745T>C + D0025:g.14745T>C chrX 37409276 37409277 CYBBbase_D0025:g.14744G>A + D0025:g.14744G>A chrX 37410253 37410254 CYBBbase_D0025:g.15721G>T + D0025:g.15721G>T chrX 37411611 37411612 CYBBbase_D0025:g.17079G>A + D0025:g.17079G>A chrX 37411612 37411613 CYBBbase_D0025:g.17080T>A + D0025:g.17080T>A chrX 37411611 37411612 CYBBbase_D0025:g.17079G>C + D0025:g.17079G>C chrX 37413263 37413264 CYBBbase_D0025:g.18731A>G + D0025:g.18731A>G chrX 37414551 37414552 CYBBbase_D0025:g.20019T>A + D0025:g.20019T>A chrX 37414551 37414552 CYBBbase_D0025:g.20019T>C + D0025:g.20019T>C chrX 37416719 37416720 CYBBbase_D0025:g.22187A>C + D0025:g.22187A>C chrX 37416719 37416720 CYBBbase_D0025:g.22187A>G + D0025:g.22187A>G chrX 37416720 37416721 CYBBbase_D0025:g.22188G>A + D0025:g.22188G>A chrX 37414550 37414551 CYBBbase_D0025:g.20018G>A + D0025:g.20018G>A chrX 37414550 37414551 CYBBbase_D0025:g.20018G>T + D0025:g.20018G>T chrX 37416814 37416815 CYBBbase_D0025:g.22282G>T + D0025:g.22282G>T chrX 37416814 37416815 CYBBbase_D0025:g.22282G>A + D0025:g.22282G>A chrX 37419604 37419605 CYBBbase_D0025:g.25072G>A + D0025:g.25072G>A chrX 37420473 37420474 CYBBbase_D0025:g.25941A>G + D0025:g.25941A>G chrX 37420638 37420639 CYBBbase_D0025:g.26106G>A + D0025:g.26106G>A chrX 37420639 37420640 CYBBbase_D0025:g.26107T>A + D0025:g.26107T>A chrX 37421852 37421853 CYBBbase_D0025:g.27320T>C + D0025:g.27320T>C chrX 37420638 37420639 CYBBbase_D0025:g.26106G>T + D0025:g.26106G>T chrX 37422003 37422004 CYBBbase_D0025:g.27471G>A + D0025:g.27471G>A chrX 37422003 37422004 CYBBbase_D0025:g.27471G>T + D0025:g.27471G>T chrX 37425034 37425035 CYBBbase_D0025:g.30502A>G + D0025:g.30502A>G chrX 37425035 37425036 CYBBbase_D0025:g.30503G>A + D0025:g.30503G>A chrX 37426258 37426259 CYBBbase_D0025:g.31726A>G + D0025:g.31726A>G chrX 37425159 37425170 CYBBbase_D0025:g.30627_30637del + D0025:g.30627_30637del chr10 15027114 15027115 DCLRE1Cbase_D0026:g.49482C>T - D0026:g.49482C>T chr10 15010019 15010020 DCLRE1Cbase_D0026:g.66577G>A - D0026:g.66577G>A chr10 15008846 15008847 DCLRE1Cbase_D0026:g.67750G>C - D0026:g.67750G>C chr10 15018551 15018552 DCLRE1Cbase_D0026:g.58045G>T - D0026:g.58045G>T chr10 15017527 15017528 DCLRE1Cbase_D0026:g.59069G>A - D0026:g.59069G>A chr10 15014858 15014859 DCLRE1Cbase_D0026:g.61738delG - D0026:g.61738delG chr10 14991185 14991202 DCLRE1Cbase_D0026:g.85395_85411del - D0026:g.85395_85411del chr10 14991139 14991146 DCLRE1Cbase_D0026:g.85451_85457delTTGTAGA - D0026:g.85451_85457delTTGTAGA chr10 15018541 15018542 DCLRE1Cbase_D0026:g.58055G>T - D0026:g.58055G>T chrX 153557450 153557451 DKC1base_D0028:g.3715T>C + D0028:g.3715T>C chrX 153557483 153557484 DKC1base_D0028:g.3748C>T + D0028:g.3748C>T chrX 153558291 153558292 DKC1base_D0028:g.4556A>G + D0028:g.4556A>G chrX 153565130 153565131 DKC1base_D0028:g.11395C>T + D0028:g.11395C>T chr20 30831877 30831878 DNMT3Bbase_D0096:g.40317C>T + D0096:g.40317C>T chr20 30859326 30859327 DNMT3Bbase_D0096:g.67766G>A + D0096:g.67766G>A chr20 30857012 30857013 DNMT3Bbase_D0096:g.65452G>A + D0096:g.65452G>A chr20 30857463 30857464 DNMT3Bbase_D0096:g.65903T>C + D0096:g.65903T>C chr20 30859137 30859138 DNMT3Bbase_D0096:g.67577G>A + D0096:g.67577G>A chr20 30832836 30832837 DNMT3Bbase_D0096:g.41276C>T + D0096:g.41276C>T chr20 30852843 30852844 DNMT3Bbase_D0096:g.61283T>G + D0096:g.61283T>G chr20 30838873 30838874 DNMT3Bbase_D0096:g.47313C>T + D0096:g.47313C>T chr20 30851676 30851677 DNMT3Bbase_D0096:g.60116T>C + D0096:g.60116T>C chr20 30840473 30840474 DNMT3Bbase_D0096:g.48913T>C + D0096:g.48913T>C chr20 30851666 30851667 DNMT3Bbase_D0096:g.60106G>A + D0096:g.60106G>A chr20 30859217 30859218 DNMT3Bbase_D0096:g.67657G>A + D0096:g.67657G>A chr20 30853882 30853883 DNMT3Bbase_D0096:g.62322T>G + D0096:g.62322T>G chr20 30856868 30856869 DNMT3Bbase_D0096:g.65308G>C + D0096:g.65308G>C chr20 30859248 30859249 DNMT3Bbase_D0096:g.67688A>G + D0096:g.67688A>G chr20 30859259 30859260 DNMT3Bbase_D0096:g.67699G>A + D0096:g.67699G>A chr20 30859257 30859258 DNMT3Bbase_D0096:g.67697A>G + D0096:g.67697A>G chr19 803328 803329 ELA2base_D0029:g.1287A>G + D0029:g.1287A>G chr19 803932 803933 ELA2base_D0029:g.1843C>T + D0029:g.1843C>T chr19 803936 803937 ELA2base_D0029:g.1847C>A + D0029:g.1847C>A chr19 803944 803945 ELA2base_D0029:g.1855C>T + D0029:g.1855C>T chr19 803947 803948 ELA2base_D0029:g.1858T>C + D0029:g.1858T>C chr19 803965 803966 ELA2base_D0029:g.1876A>T + D0029:g.1876A>T chr19 803971 803972 ELA2base_D0029:g.1882G>A + D0029:g.1882G>A chr19 803976 803977 ELA2base_D0029:g.1887G>A + D0029:g.1887G>A chr19 803986 803987 ELA2base_D0029:g.1897T>C + D0029:g.1897T>C chr19 803989 803990 ELA2base_D0029:g.1900C>T + D0029:g.1900C>T chr19 804018 804019 ELA2base_D0029:g.1929T>C + D0029:g.1929T>C chr19 804018 804019 ELA2base_D0029:g.1929T>A + D0029:g.1929T>A chr19 804278 804279 ELA2base_D0029:g.2190G>C + D0029:g.2190G>C chr19 804280 804281 ELA2base_D0029:g.2192G>A + D0029:g.2192G>A chr19 804287 804288 ELA2base_D0029:g.2199T>C + D0029:g.2199T>C chr19 804290 804291 ELA2base_D0029:g.2202G>A + D0029:g.2202G>A chr19 804337 804338 ELA2base_D0029:g.2249G>A + D0029:g.2249G>A chr19 804398 804399 ELA2base_D0029:g.2310T>C + D0029:g.2310T>C chr19 806573 806574 ELA2base_D0029:g.4495C>T + D0029:g.4495C>T chr19 806575 806576 ELA2base_D0029:g.4497G>C + D0029:g.4497G>C chr19 806612 806613 ELA2base_D0029:g.4534C>T + D0029:g.4534C>T chr19 806647 806648 ELA2base_D0029:g.4569T>A + D0029:g.4569T>A chr19 806648 806649 ELA2base_D0029:g.4570G>A + D0029:g.4570G>A chr19 806651 806652 ELA2base_D0029:g.4573T>C + D0029:g.4573T>C chr19 806716 806740 ELA2base_D0029:g.4638_4661del + D0029:g.4638_4661del chr19 806973 806974 ELA2base_D0029:g.4898C>G + D0029:g.4898C>G chr19 806977 806978 ELA2base_D0029:g.4902G>T + D0029:g.4902G>T chr19 806988 806989 ELA2base_D0029:g.4913G>T + D0029:g.4913G>T chr19 806999 807000 ELA2base_D0029:g.4924G>A + D0029:g.4924G>A chr19 807014 807015 ELA2base_D0029:g.4939G>A + D0029:g.4939G>A chr19 807018 807019 ELA2base_D0029:g.4943G>A + D0029:g.4943G>A chr19 807020 807021 ELA2base_D0029:g.4945G>T + D0029:g.4945G>T chr19 807028 807029 ELA2base_D0029:g.4953C>A + D0029:g.4953C>A chr19 807033 807034 ELA2base_D0029:g.4958C>A + D0029:g.4958C>A chr19 807043 807044 ELA2base_D0029:g.4968C>A + D0029:g.4968C>A chr19 807047 807048 ELA2base_D0029:g.4972delG + D0029:g.4972delG chr19 807056 807057 ELA2base_D0029:g.4981G>C + D0029:g.4981G>C chr19 807129 807130 ELA2base_D0029:g.5054C>T + D0029:g.5054C>T chr19 807144 807145 ELA2base_D0029:g.5069C>T + D0029:g.5069C>T chr19 803287 803288 ELA2base_D0029:g.1246C>A + D0029:g.1246C>A chr19 803103 803104 ELA2base_D0029:g.1063C>A + D0029:g.1063C>A chr19 806555 806556 ELA2base_D0029:g.4477C>A + D0029:g.4477C>A chr19 806794 806795 ELA2base_D0029:g.4716G>A + D0029:g.4716G>A chr19 806796 806797 ELA2base_D0029:g.4718A>T + D0029:g.4718A>T chr19 806798 806799 ELA2base_D0029:g.4720G>A + D0029:g.4720G>A chr19 806754 806755 ELA2base_D0029:g.4676C>A + D0029:g.4676C>A chr1 169366438 169366522 FASLGbase_D0090:g.83392_83475del + D0090:g.83392_83475del chr1 169366706 169366707 FASLGbase_D0090:g.83660C>A + D0090:g.83660C>A chr1 146568852 146568853 FCGR1Abase_D0032:g.2493C>T + D0032:g.2493C>T chr1 158331387 158331388 FCGR3Abase_D0033:g.2217T>A - D0033:g.2217T>A chr17 23880301 23880302 FOXN1base_D0034:g.56561C>T + D0034:g.56561C>T chrX 48870579 48870580 FOXP3base_D0035:g.75629delT - D0035:g.75629delT chrX 48868326 48868329 FOXP3base_D0035:g.77880_77882delAAG - D0035:g.77880_77882delAAG chrX 48865961 48865962 FOXP3base_D0035:g.80247G>A - D0035:g.80247G>A chrX 48864554 48864555 FOXP3base_D0035:g.81654A>G - D0035:g.81654A>G chrX 48864311 48864312 FOXP3base_D0035:g.81897G>A - D0035:g.81897G>A chrX 48864272 48864273 FOXP3base_D0035:g.81936C>T - D0035:g.81936C>T chrX 48864167 48864169 FOXP3base_D0035:g.82040_82041delCT - D0035:g.82040_82041delCT chrX 48863289 48863290 FOXP3base_D0035:g.82919A>G - D0035:g.82919A>G chr1 92653730 92653731 GFI1base_D0037:g.11730A>G - D0037:g.11730A>G chr1 92653667 92653668 GFI1base_D0037:g.11793A>G - D0037:g.11793A>G chr1 151058960 151058962 HAX1base_D0121:g.1902_1903insA + D0121:g.1902_1903insA chr1 151059086 151059087 HAX1base_D0121:g.2028C>T + D0121:g.2028C>T chr1 151060713 151060714 HAX1base_D0121:g.3655C>T + D0121:g.3655C>T chr2 204645270 204647087 ICOSbase_D0039:g.171583_173397del + D0039:g.171583_173397del chr6 137582134 137582135 IFNGR1base_D0041:g.32897delC - D0041:g.32897delC chr6 137569887 137569888 IFNGR1base_D0041:g.45144dupT - D0041:g.45144dupT chr6 137569885 137569887 IFNGR1base_D0041:g.45145_45146insT - D0041:g.45145_45146insT chr6 137569795 137569796 IFNGR1base_D0041:g.45236A>G - D0041:g.45236A>G chr6 137569824 137569825 IFNGR1base_D0041:g.45207delC - D0041:g.45207delC chr6 137569084 137569085 IFNGR1base_D0041:g.45947G>A - D0041:g.45947G>A chr6 137567184 137567185 IFNGR1base_D0041:g.47847delT - D0041:g.47847delT chr6 137569884 137569886 IFNGR1base_D0041:g.45146_45147dupTTAC - D0041:g.45146_45147dupTTAC chr6 137569791 137569792 IFNGR1base_D0041:g.45240G>T - D0041:g.45240G>T chr6 137569861 137569862 IFNGR1base_D0041:g.45170delC - D0041:g.45170delC chr6 137569810 137569811 IFNGR1base_D0041:g.45221T>A - D0041:g.45221T>A chr6 137566406 137566409 IFNGR1base_D0041:g.48623_48625delAAG - D0041:g.48623_48625delAAG chr6 137569804 137569805 IFNGR1base_D0041:g.45227T>G - D0041:g.45227T>G chr6 137569108 137569109 IFNGR1base_D0041:g.45923G>A - D0041:g.45923G>A chr6 137569078 137569079 IFNGR1base_D0041:g.45953T>C - D0041:g.45953T>C chr6 137569032 137569044 IFNGR1base_D0041:g.45988_45999del - D0041:g.45988_45999del chr6 137568991 137568992 IFNGR1base_D0041:g.46040C>A - D0041:g.46040C>A chr6 137568964 137568965 IFNGR1base_D0041:g.46067G>T - D0041:g.46067G>T chr6 137566497 137566501 IFNGR1base_D0041:g.48531_48534delACTC - D0041:g.48531_48534delACTC chr6 137563794 137563798 IFNGR1base_D0041:g.51234_51237delTCTA - D0041:g.51234_51237delTCTA chr6 137563757 137563761 IFNGR1base_D0041:g.51271_51274delAAGA - D0041:g.51271_51274delAAGA chr6 137563750 137563754 IFNGR1base_D0041:g.51278_51281delTTAA - D0041:g.51278_51281delTTAA chr6 137563753 137563754 IFNGR1base_D0041:g.51278delT - D0041:g.51278delT chr6 137563754 137563755 IFNGR1base_D0041:g.51277dupA - D0041:g.51277dupA chr6 137563739 137563740 IFNGR1base_D0041:g.51292G>T - D0041:g.51292G>T chr6 137569139 137569140 IFNGR1base_D0041:g.45892A>G - D0041:g.45892A>G chr21 33715727 33715729 IFNGR2base_D0042:g.19657_19658delAG + D0042:g.19657_19658delAG chr21 33715789 33715790 IFNGR2base_D0042:g.19719C>T + D0042:g.19719C>T chr21 33721150 33721151 IFNGR2base_D0042:g.25080C>A + D0042:g.25080C>A chr21 33726454 33726481 IFNGR2base_D0042:g.30384_30410del + D0042:g.30384_30410del chr21 33726959 33726960 IFNGR2base_D0042:g.30889delG + D0042:g.30889delG chr14 105180591 105180592 IGHG2base_D0043:g.1795dupG - D0043:g.1795dupG chr14 105181873 105181874 IGHG2base_D0043:g.513A>G - D0043:g.513A>G chr14 105392256 105392257 IGHMbase_X57331.1:g.1255G>A - X57331.1:g.1255G>A chr14 105392772 105392774 IGHMbase_X57331.1:g.738_739delAA - X57331.1:g.738_739delAA chr14 105391617 105391618 IGHMbase_X57331.1:g.1893T>G - X57331.1:g.1893T>G chr14 105391554 105391555 IGHMbase_X57331.1:g.1956G>A - X57331.1:g.1956G>A chr22 22246867 22246868 IGLL1base_D0045:g.258C>T - D0045:g.258C>T chr22 22240223 22240224 IGLL1base_D0045:g.6904C>T - D0045:g.6904C>T chrX 153344031 153344033 IKBKGbase_D0046:g.9842_9843insC + D0046:g.9842_9843insC chrX 153348134 153348135 IKBKGbase_D0046:g.13951T>C + D0046:g.13951T>C chrX 153350508 153350509 IKBKGbase_D0046:g.16325T>G + D0046:g.16325T>G chrX 153350567 153350568 IKBKGbase_D0046:g.16384C>G + D0046:g.16384C>G chrX 153352330 153352331 IKBKGbase_D0046:g.18148G>C + D0046:g.18148G>C chrX 153353614 153353615 IKBKGbase_D0046:g.19432T>C + D0046:g.19432T>C chrX 153354751 153354753 IKBKGbase_D0046:g.20567_20568insA + D0046:g.20567_20568insA chrX 153354770 153354788 IKBKGbase_D0046:g.20586_20603del + D0046:g.20586_20603del chrX 153354822 153354823 IKBKGbase_D0046:g.20638C>G + D0046:g.20638C>G chrX 153355508 153355509 IKBKGbase_D0046:g.21326A>C + D0046:g.21326A>C chrX 153355520 153355521 IKBKGbase_D0046:g.21338G>A + D0046:g.21338G>A chrX 153356286 153356288 IKBKGbase_D0046:g.22104_22105insC + D0046:g.22104_22105insC chrX 153356290 153356291 IKBKGbase_D0046:g.22108G>T + D0046:g.22108G>T chrX 153356326 153356327 IKBKGbase_D0046:g.22144C>T + D0046:g.22144C>T chrX 153356336 153356337 IKBKGbase_D0046:g.22154A>T + D0046:g.22154A>T chrX 153356336 153356338 IKBKGbase_D0046:g.22154_22155insA + D0046:g.22154_22155insA chrX 153356369 153356370 IKBKGbase_D0046:g.22187G>T + D0046:g.22187G>T chrX 153356368 153356369 IKBKGbase_D0046:g.22186T>C + D0046:g.22186T>C chrX 153356369 153356370 IKBKGbase_D0046:g.22187G>A + D0046:g.22187G>A chrX 153356378 153356379 IKBKGbase_D0046:g.22196A>G + D0046:g.22196A>G chrX 153353707 153353708 IKBKGbase_D0046:g.19525G>A + D0046:g.19525G>A chrX 153355876 153355877 IKBKGbase_D0046:g.21694G>A + D0046:g.21694G>A chr5 158682699 158682707 IL12Bbase_D0047:g.9794_9801delTTCGCTCC - D0047:g.9794_9801delTTCGCTCC chr5 158682683 158682684 IL12Bbase_D0047:g.9817dupA - D0047:g.9817dupA chr19 18055271 18055272 IL12RB1base_D0048:g.4426C>T - D0048:g.4426C>T chr19 18034081 18034083 IL12RB1base_D0048:g.25615_25616delinsTT - D0048:g.25615_25616delinsTT chr19 18053968 18053969 IL12RB1base_D0048:g.5729T>C - D0048:g.5729T>C chr19 18049362 18049363 IL12RB1base_D0048:g.10335A>C - D0048:g.10335A>C chr19 18043934 18043936 IL12RB1base_D0048:g.15762_15763delinsG - D0048:g.15762_15763delinsG chr19 18049356 18049357 IL12RB1base_D0048:g.10341G>C - D0048:g.10341G>C chr19 18047666 18047667 IL12RB1base_D0048:g.12031T>C - D0048:g.12031T>C chr19 18047626 18047627 IL12RB1base_D0048:g.12071G>C - D0048:g.12071G>C chr19 18047621 18047622 IL12RB1base_D0048:g.12076C>T - D0048:g.12076C>T chr19 18044029 18044030 IL12RB1base_D0048:g.15668A>T - D0048:g.15668A>T chr19 18043980 18043981 IL12RB1base_D0048:g.15717C>A - D0048:g.15717C>A chr19 18041444 18041445 IL12RB1base_D0048:g.18253A>G - D0048:g.18253A>G chr19 18041418 18041419 IL12RB1base_D0048:g.18279C>T - D0048:g.18279C>T chr19 18035159 18038169 IL12RB1base_D0048:g.21529_24538del - D0048:g.21529_24538del chr19 18032972 18032974 IL12RB1base_D0048:g.26724_26725dupCA - D0048:g.26724_26725dupCA chr19 18058564 18058565 IL12RB1base_D0048:g.1133G>A - D0048:g.1133G>A chr19 18049323 18049324 IL12RB1base_D0048:g.10374T>C - D0048:g.10374T>C chr19 18048138 18048139 IL12RB1base_D0048:g.11559A>G - D0048:g.11559A>G chr19 18048123 18048130 IL12RB1base_D0048:g.11568_11574delinsAGATATCA - D0048:g.11568_11574delinsAGATATCA chr19 18049391 18049408 IL12RB1base_D0048:g.10290_10306del - D0048:g.10290_10306del chr19 18045325 18045326 IL12RB1base_D0048:g.14372G>C - D0048:g.14372G>C chr19 18045325 18045326 IL12RB1base_D0048:g.14372G>A - D0048:g.14372G>A chr19 18040336 18040337 IL12RB1base_D0048:g.19361G>A - D0048:g.19361G>A chr19 18032929 18032930 IL12RB1base_D0048:g.26768T>G - D0048:g.26768T>G chr19 18035030 18047196 IL12RB1base_D0048:g.12502_24667del - D0048:g.12502_24667del chr10 6107994 6107998 IL2RAbase_D0049:g.37297_37300delGCAG - D0049:g.37297_37300delGCAG chr10 6106278 6106279 IL2RAbase_D0049:g.39016C>T - D0049:g.39016C>T chr10 6101431 6101432 IL2RAbase_D0049:g.43863dupA - D0049:g.43863dupA chr5 35903317 35903318 IL7Rbase_D0050:g.11505T>A + D0050:g.11505T>A chr5 35906928 35906929 IL7Rbase_D0050:g.15116C>T + D0050:g.15116C>T chr5 35909416 35909417 IL7Rbase_D0050:g.17604C>T + D0050:g.17604C>T chr5 35909337 35909338 IL7Rbase_D0050:g.17525G>A + D0050:g.17525G>A chr5 35909451 35909452 IL7Rbase_D0050:g.17639G>A + D0050:g.17639G>A chr12 42448303 42448304 IRAK4base_D0051:g.11171dupA + D0051:g.11171dupA chr12 42453014 42453015 IRAK4base_D0051:g.15882delA + D0051:g.15882delA chr12 42453110 42453112 IRAK4base_D0051:g.15978_15979delAC + D0051:g.15978_15979delAC chr12 42458307 42458308 IRAK4base_D0051:g.21175C>T + D0051:g.21175C>T chr12 42457803 42457804 IRAK4base_D0051:g.20671delT + D0051:g.20671delT chr12 42466483 42466484 IRAK4base_D0051:g.29351G>T + D0051:g.29351G>T chr21 45155123 45155124 ITGB2base_D0052:g.11109T>A - D0052:g.11109T>A chr21 45133045 45133046 ITGB2base_D0052:g.33187delT - D0052:g.33187delT chr21 45154706 45154708 ITGB2base_D0052:g.11525_11526delTC - D0052:g.11525_11526delTC chr21 45144831 45144832 ITGB2base_D0052:g.21401C>A - D0052:g.21401C>A chr21 45133739 45133740 ITGB2base_D0052:g.32493C>T - D0052:g.32493C>T chr21 45154645 45154655 ITGB2base_D0052:g.11578_11587del - D0052:g.11578_11587del chr21 45151386 45151387 ITGB2base_D0052:g.14846C>T - D0052:g.14846C>T chr21 45147824 45147825 ITGB2base_D0052:g.18408G>A - D0052:g.18408G>A chr21 45147794 45147795 ITGB2base_D0052:g.18438T>C - D0052:g.18438T>C chr21 45144742 45144743 ITGB2base_D0052:g.21490G>A - D0052:g.21490G>A chr21 45147760 45147761 ITGB2base_D0052:g.18472T>C - D0052:g.18472T>C chr21 45146070 45146071 ITGB2base_D0052:g.20162G>A - D0052:g.20162G>A chr21 45146042 45146043 ITGB2base_D0052:g.20190C>T - D0052:g.20190C>T chr21 45145988 45145989 ITGB2base_D0052:g.20244A>C - D0052:g.20244A>C chr21 45133718 45133719 ITGB2base_D0052:g.32514C>T - D0052:g.32514C>T chr21 45145960 45145962 ITGB2base_D0052:g.20271_20272insA - D0052:g.20271_20272insA chr21 45145884 45145885 ITGB2base_D0052:g.20348G>C - D0052:g.20348G>C chr21 45144709 45144710 ITGB2base_D0052:g.21523G>A - D0052:g.21523G>A chr21 45144805 45144806 ITGB2base_D0052:g.21427T>C - D0052:g.21427T>C chr21 45144750 45144751 ITGB2base_D0052:g.21482C>T - D0052:g.21482C>T chr21 45133727 45133728 ITGB2base_D0052:g.32505T>C - D0052:g.32505T>C chr21 45134480 45134481 ITGB2base_D0052:g.31752delG - D0052:g.31752delG chr21 45139375 45139376 ITGB2base_D0052:g.26857G>C - D0052:g.26857G>C chr21 45134375 45134376 ITGB2base_D0052:g.31857C>A - D0052:g.31857C>A chr21 45139344 45139345 ITGB2base_D0052:g.26888A>G - D0052:g.26888A>G chr21 45136307 45136309 ITGB2base_D0052:g.29924_29925delGA - D0052:g.29924_29925delGA chr21 45133195 45133196 ITGB2base_D0052:g.33037delG - D0052:g.33037delG chr21 45134320 45134356 ITGB2base_D0052:g.31877_31912del - D0052:g.31877_31912del chr21 45131125 45131126 ITGB2base_D0052:g.35107G>T - D0052:g.35107G>T chr21 45146087 45146088 ITGB2base_D0052:g.20145T>G - D0052:g.20145T>G chr21 45144661 45144662 ITGB2base_D0052:g.21571G>A - D0052:g.21571G>A chr21 45139310 45139311 ITGB2base_D0052:g.26922G>C - D0052:g.26922G>C chr21 45147746 45147915 ITGB2base_D0052:g.18318_18486del - D0052:g.18318_18486del chr19 17816225 17816226 JAK3base_D0095:g.5057A>G - D0095:g.5057A>G chr19 17804324 17804325 JAK3base_D0095:g.16958G>C - D0095:g.16958G>C chr19 17816118 17816119 JAK3base_D0095:g.5164delG - D0095:g.5164delG chr19 17816053 17816056 JAK3base_D0095:g.5227_5229delTGC - D0095:g.5227_5229delTGC chr19 17814894 17814895 JAK3base_D0095:g.6388C>A - D0095:g.6388C>A chr19 17816054 17816055 JAK3base_D0095:g.5228G>C - D0095:g.5228G>C chr19 17802335 17802336 JAK3base_D0095:g.18947delC - D0095:g.18947delC chr19 17815594 17815595 JAK3base_D0095:g.5688A>G - D0095:g.5688A>G chr19 17814949 17814950 JAK3base_D0095:g.6333C>G - D0095:g.6333C>G chr19 17812114 17812115 JAK3base_D0095:g.9168dupG - D0095:g.9168dupG chr19 17809746 17809747 JAK3base_D0095:g.11536C>A - D0095:g.11536C>A chr19 17811393 17811394 JAK3base_D0095:g.9889C>T - D0095:g.9889C>T chr19 17806454 17806455 JAK3base_D0095:g.14828T>C - D0095:g.14828T>C chr19 17810198 17810199 JAK3base_D0095:g.11084A>G - D0095:g.11084A>G chr19 17809740 17810199 JAK3base_D0095:g.11084_11542del - D0095:g.11084_11542del chr19 17810072 17810073 JAK3base_D0095:g.11210G>A - D0095:g.11210G>A chr19 17808979 17808980 JAK3base_D0095:g.12303C>T - D0095:g.12303C>T chr19 17808958 17808959 JAK3base_D0095:g.12324G>A - D0095:g.12324G>A chr19 17808956 17808957 JAK3base_D0095:g.12326C>T - D0095:g.12326C>T chr19 17806987 17806988 JAK3base_D0095:g.14295C>T - D0095:g.14295C>T chr19 17806779 17806780 JAK3base_D0095:g.14503G>A - D0095:g.14503G>A chr19 17806794 17806795 JAK3base_D0095:g.14488C>T - D0095:g.14488C>T chr19 17806739 17806740 JAK3base_D0095:g.14543A>C - D0095:g.14543A>C chr19 17803147 17803148 JAK3base_D0095:g.18135T>G - D0095:g.18135T>G chr19 17806695 17806696 JAK3base_D0095:g.14587G>A - D0095:g.14587G>A chr19 17806433 17806434 JAK3base_D0095:g.14849C>T - D0095:g.14849C>T chr19 17806418 17806419 JAK3base_D0095:g.14864C>T - D0095:g.14864C>T chr19 17803558 17803559 JAK3base_D0095:g.17724T>C - D0095:g.17724T>C chr19 17802338 17802339 JAK3base_D0095:g.18944C>A - D0095:g.18944C>A chr19 17803053 17803054 JAK3base_D0095:g.18229C>T - D0095:g.18229C>T chr19 17810200 17810201 JAK3base_D0095:g.11082A>G - D0095:g.11082A>G chr19 17807860 17807861 JAK3base_D0095:g.13422G>A - D0095:g.13422G>A chr19 17806767 17806768 JAK3base_D0095:g.14515G>T - D0095:g.14515G>T chr19 17806377 17806378 JAK3base_D0095:g.14905T>C - D0095:g.14905T>C chr19 17802309 17802310 JAK3base_D0095:g.18973T>A - D0095:g.18973T>A chr19 17802027 17802028 JAK3base_D0095:g.19255G>A - D0095:g.19255G>A chr19 53328079 53328080 LIG1base_D0053:g.38293G>A - D0053:g.38293G>A chr19 53316312 53316313 LIG1base_D0053:g.50060C>T - D0053:g.50060C>T chr13 107661609 107661610 LIG4base_AF479264.1:g.4044C>T - AF479264.1:g.4044C>T chr13 107661591 107661592 LIG4base_AF479264.1:g.4062C>T - AF479264.1:g.4062C>T chr13 107660784 107660785 LIG4base_AF479264.1:g.4869G>A - AF479264.1:g.4869G>A chr13 107660778 107660779 LIG4base_AF479264.1:g.4875A>G - AF479264.1:g.4875A>G chr13 107660342 107660347 LIG4base_AF479264.1:g.5307_5311delAAAGA - AF479264.1:g.5307_5311delAAAGA chr13 107660772 107660773 LIG4base_AF479264.1:g.4881A>T - AF479264.1:g.4881A>T chr13 107660318 107660321 LIG4base_AF479264.1:g.5333_5335delCAA - AF479264.1:g.5333_5335delCAA chr13 107660211 107660212 LIG4base_AF479264.1:g.5442G>A - AF479264.1:g.5442G>A chr13 107659177 107659178 LIG4base_AF479264.1:g.6476C>T - AF479264.1:g.6476C>T chr13 107659879 107659880 LIG4base_AF479264.1:g.5774C>T - AF479264.1:g.5774C>T chr9 128750343 128760869 LRRC8Abase_D0055:g.2347_12872del + D0055:g.2347_12872del chr1 232319639 232319641 LYSTbase_D0020:g.37626_37627insG - D0020:g.37626_37627insG chr1 232319610 232319611 LYSTbase_D0020:g.37656C>T - D0020:g.37656C>T chr1 232298691 232298692 LYSTbase_D0020:g.58575delG - D0020:g.58575delG chr1 232298618 232298619 LYSTbase_D0020:g.58648C>T - D0020:g.58648C>T chr1 232201429 232201430 LYSTbase_D0020:g.155837delT - D0020:g.155837delT chr1 232298255 232298257 LYSTbase_D0020:g.59010_59011insA - D0020:g.59010_59011insA chr1 232296022 232296023 LYSTbase_D0020:g.61244delA - D0020:g.61244delA chr1 232295856 232295857 LYSTbase_D0020:g.61410delT - D0020:g.61410delT chr1 232295402 232295404 LYSTbase_D0020:g.61863_61864delAA - D0020:g.61863_61864delAA chr1 232295391 232295392 LYSTbase_D0020:g.61875C>T - D0020:g.61875C>T chr1 232295166 232295167 LYSTbase_D0020:g.62100C>T - D0020:g.62100C>T chr1 232293965 232293967 LYSTbase_D0020:g.63300_63301insA - D0020:g.63300_63301insA chr1 232282907 232282908 LYSTbase_D0020:g.74359C>G - D0020:g.74359C>G chr1 232281308 232281309 LYSTbase_D0020:g.75958delT - D0020:g.75958delT chr1 232223930 232223931 LYSTbase_D0020:g.133336G>A - D0020:g.133336G>A chr1 232270358 232270359 LYSTbase_D0020:g.86908T>A - D0020:g.86908T>A chr1 232281221 232281222 LYSTbase_D0020:g.76045C>A - D0020:g.76045C>A chr1 232278041 232278042 LYSTbase_D0020:g.79225G>A - D0020:g.79225G>A chr1 232266546 232266547 LYSTbase_D0020:g.90720delA - D0020:g.90720delA chr1 232213455 232213457 LYSTbase_D0020:g.143810_143811ins10 - D0020:g.143810_143811ins10 chr1 232255544 232255545 LYSTbase_D0020:g.101722T>A - D0020:g.101722T>A chr1 232255462 232255463 LYSTbase_D0020:g.101804C>A - D0020:g.101804C>A chr1 232244981 232244988 LYSTbase_D0020:g.112279_112285delCTATTAG - D0020:g.112279_112285delCTATTAG chr1 232241417 232241418 LYSTbase_D0020:g.115849delT - D0020:g.115849delT chr1 232223199 232223200 LYSTbase_D0020:g.134067G>A - D0020:g.134067G>A chr1 232206089 232206090 LYSTbase_D0020:g.151177delA - D0020:g.151177delA chr1 232186592 232186593 LYSTbase_D0020:g.170674delA - D0020:g.170674delA chr1 152841257 152841258 MAPBPIPbase_D0123:g.4581C>A + D0123:g.4581C>A chr1 11040931 11040932 MASP2base_D0056:g.1630A>G - D0056:g.1630A>G chr2 238184171 238184172 MLPHbase_D0059:g.7243C>T + D0059:g.7243C>T chr17 53712297 53712298 MPObase_D0060:g.3520delA - D0060:g.3520delA chr17 53711912 53711913 MPObase_D0060:g.3899A>G - D0060:g.3899A>G chr17 53711500 53711501 MPObase_D0060:g.4311T>C - D0060:g.4311T>C chr17 53705829 53705843 MPObase_D0060:g.9953_9966del - D0060:g.9953_9966del chr17 53705194 53705195 MPObase_D0060:g.10600C>T - D0060:g.10600C>T chr17 53710395 53710396 MPObase_D0060:g.5414C>T - D0060:g.5414C>T chr17 53705184 53705185 MPObase_D0060:g.10610T>G - D0060:g.10610T>G chr17 53710278 53710279 MPObase_D0060:g.5531A>G - D0060:g.5531A>G chr17 53705899 53705900 MPObase_D0060:g.9896C>T - D0060:g.9896C>T chr17 53705893 53705894 MPObase_D0060:g.9902G>A - D0060:g.9902G>A chr17 53703224 53703225 MPObase_D0060:g.12564A>C - D0060:g.12564A>C chr17 53704117 53704118 MPObase_D0060:g.11675T>C - D0060:g.11675T>C chr11 93852539 93852540 MRE11Abase_D0061:g.15119A>G - D0061:g.15119A>G chr11 93820101 93820102 MRE11Abase_D0061:g.47557C>T - D0061:g.47557C>T chr11 93849131 93849132 MRE11Abase_D0061:g.18527G>C - D0061:g.18527G>C chr11 93832279 93832280 MRE11Abase_D0061:g.35379C>A - D0061:g.35379C>A chr11 93810019 93810020 MRE11Abase_D0061:g.57639C>T - D0061:g.57639C>T chr15 50455923 50455924 MYO5Abase_D0062:g.153616C>T - D0062:g.153616C>T chr15 50430855 50430856 MYO5Abase_D0062:g.178684C>T - D0062:g.178684C>T chr7 73641982 73641983 NCF1base_D0099:g.9966delG + D0099:g.9966delG chr7 73636265 73636267 NCF1base_D0099:g.4249_4250delGT + D0099:g.4249_4250delGT chr7 73638294 73638295 NCF1base_D0099:g.6278C>T + D0099:g.6278C>T chr7 73638376 73638377 NCF1base_D0099:g.6360T>A + D0099:g.6360T>A chr7 73633101 73633102 NCF1base_D0099:g.1085G>A + D0099:g.1085G>A chr7 73633103 73633104 NCF1base_D0099:g.1087G>T + D0099:g.1087G>T chr7 73644279 73644280 NCF1base_D0099:g.12263G>A + D0099:g.12263G>A chr7 73636315 73636316 NCF1base_D0099:g.4299G>A + D0099:g.4299G>A chr7 73638376 73638378 NCF1base_D0099:g.6360_6361delinsAA + D0099:g.6360_6361delinsAA chr7 73638356 73638357 NCF1base_D0099:g.6340T>A + D0099:g.6340T>A chr7 73642522 73642523 NCF1base_D0099:g.10506G>A + D0099:g.10506G>A chr7 73637795 73640653 NCF1base_D0099:g.5779_8636del + D0099:g.5779_8636del chr7 73642626 73642627 NCF1base_D0099:g.10610G>C + D0099:g.10610G>C chr7 73646988 73646989 NCF1base_D0099:g.14972delG + D0099:g.14972delG chr7 73642054 73642055 NCF1base_D0099:g.10038G>A + D0099:g.10038G>A chr7 73636344 73636345 NCF1base_D0099:g.4328G>A + D0099:g.4328G>A chr1 180291058 180291067 NCF2base_HSNCFII01:g.989_997delAAGAAGGAC - HSNCFII01:g.989_997delAAGAAGGAC chr1 180290949 180290952 NCF2base_HSNCFII01:g.1104_1106delAGA - HSNCFII01:g.1104_1106delAGA chr1 180287710 180287711 NCF2base_HSCFII02:g.163G>A - HSCFII02:g.163G>A chr1 180278452 180278453 NCF2base_HSNCFII03:g.175C>T - HSNCFII03:g.175C>T chr1 180275381 180275383 NCF2base_HSNCFII04:g.93_94insAG - HSNCFII04:g.93_94insAG chr1 180264230 180264235 NCF2base_HSNCFII11:g.338_342delCTAAG - HSNCFII11:g.338_342delCTAAG chr1 180264093 180264094 NCF2base_HSNCFII11:g.479C>T - HSNCFII11:g.479C>T chr1 180287684 180287685 NCF2base_HSCFII02:g.189T>C - HSCFII02:g.189T>C chr1 180278389 180278390 NCF2base_HSNCFII03:g.238G>A - HSNCFII03:g.238G>A chr1 180267994 180267995 NCF2base_HSNCFII08:g.332G>A - HSNCFII08:g.332G>A chr1 180266591 180266592 NCF2base_HSCFII09:g.123A>G - HSCFII09:g.123A>G chr2 219848578 219848579 NHEJ1base_D0113:g.13476dupT - D0113:g.13476dupT chr2 219848420 219848421 NHEJ1base_D0113:g.13634C>G - D0113:g.13634C>G chr2 219847721 219847722 NHEJ1base_D0113:g.14333T>C - D0113:g.14333T>C chr2 219848412 219848413 NHEJ1base_D0113:g.13642delG - D0113:g.13642delG chr2 219848409 219848410 NHEJ1base_D0113:g.13645A>T - D0113:g.13645A>T chr2 219836962 219836963 NHEJ1base_D0113:g.25092C>T - D0113:g.25092C>T chr14 20010364 20010365 NPbase_NP_DNA:g.2961C>T + NP_DNA:g.2961C>T chr14 20010466 20010467 NPbase_NP_DNA:g.3063C>T + NP_DNA:g.3063C>T chr14 20012574 20012575 NPbase_NP_DNA:g.5171G>A + NP_DNA:g.5171G>A chr14 20014498 20014499 NPbase_NP_DNA:g.7095C>G + NP_DNA:g.7095C>G chr14 20010475 20010476 NPbase_NP_DNA:g.3072G>T + NP_DNA:g.3072G>T chr14 20014430 20014431 NPbase_NP_DNA:g.7027G>C + NP_DNA:g.7027G>C chr14 20012553 20012554 NPbase_NP_DNA:g.5150G>A + NP_DNA:g.5150G>A chr14 20013118 20013119 NPbase_NP_DNA:g.5715G>C + NP_DNA:g.5715G>C chr14 20012834 20012835 NPbase_NP_DNA:g.5431G>A + NP_DNA:g.5431G>A chr14 20012868 20012869 NPbase_NP_DNA:g.5465A>G + NP_DNA:g.5465A>G chr14 20012870 20012873 NPbase_NP_DNA:g.5467_5469delATC + NP_DNA:g.5467_5469delATC chr14 20013065 20013066 NPbase_NP_DNA:g.5662G>C + NP_DNA:g.5662G>C chr14 20013167 20013168 NPbase_NP_DNA:g.5764G>T + NP_DNA:g.5764G>T chr14 20013173 20013174 NPbase_NP_DNA:g.5770A>G + NP_DNA:g.5770A>G chr14 20014459 20014460 NPbase_NP_DNA:g.7056delA + NP_DNA:g.7056delA chr14 20012753 20012754 NPbase_NP_DNA:g.5350G>A + NP_DNA:g.5350G>A chr1 114970785 114970786 NRASbase_D0125:g.40791G>A - D0125:g.40791G>A chr10 72030661 72030662 PRF1base_D0067:g.3276G>A - D0067:g.3276G>A chr10 72030456 72030457 PRF1base_D0067:g.3481G>T - D0067:g.3481G>T chr10 72030469 72030480 PRF1base_D0067:g.3458_3468del - D0067:g.3458_3468del chr10 72030663 72030664 PRF1base_D0067:g.3274A>G - D0067:g.3274A>G chr10 72028533 72028534 PRF1base_D0067:g.5404G>A - D0067:g.5404G>A chr10 72030614 72030615 PRF1base_D0067:g.3323delT - D0067:g.3323delT chr10 72028040 72028041 PRF1base_D0067:g.5897A>C - D0067:g.5897A>C chr10 72030447 72030448 PRF1base_D0067:g.3490T>C - D0067:g.3490T>C chr10 72030530 72030531 PRF1base_D0067:g.3407G>A - D0067:g.3407G>A chr10 72028824 72028825 PRF1base_D0067:g.5113G>A - D0067:g.5113G>A chr10 72030552 72030553 PRF1base_D0067:g.3385G>A - D0067:g.3385G>A chr10 72030392 72030393 PRF1base_D0067:g.3545C>T - D0067:g.3545C>T chr10 72030548 72030549 PRF1base_D0067:g.3389C>A - D0067:g.3389C>A chr10 72030219 72030220 PRF1base_D0067:g.3718G>A - D0067:g.3718G>A chr10 72030531 72030532 PRF1base_D0067:g.3406G>A - D0067:g.3406G>A chr10 72030504 72030505 PRF1base_D0067:g.3433C>T - D0067:g.3433C>T chr10 72030516 72030517 PRF1base_D0067:g.3421G>A - D0067:g.3421G>A chr10 72028825 72028826 PRF1base_D0067:g.5112C>A - D0067:g.5112C>A chr10 72030474 72030475 PRF1base_D0067:g.3463C>T - D0067:g.3463C>T chr10 72030457 72030458 PRF1base_D0067:g.3480delC - D0067:g.3480delC chr10 72028360 72028361 PRF1base_D0067:g.5577G>A - D0067:g.5577G>A chr10 72028391 72028393 PRF1base_D0067:g.5545_5546delCT - D0067:g.5545_5546delCT chr10 72028254 72028255 PRF1base_D0067:g.5683C>T - D0067:g.5683C>T chr10 72030399 72030400 PRF1base_D0067:g.3538C>A - D0067:g.3538C>A chr10 72028787 72028788 PRF1base_D0067:g.5150G>A - D0067:g.5150G>A chr10 72028220 72028221 PRF1base_D0067:g.5717T>G - D0067:g.5717T>G chr10 72030381 72030382 PRF1base_D0067:g.3556T>C - D0067:g.3556T>C chr10 72028587 72028588 PRF1base_D0067:g.5350C>T - D0067:g.5350C>T chr10 72028401 72028402 PRF1base_D0067:g.5536A>T - D0067:g.5536A>T chr10 72028681 72028697 PRF1base_D0067:g.5241_5256del - D0067:g.5241_5256del chr10 72030215 72030216 PRF1base_D0067:g.3722C>A - D0067:g.3722C>A chr10 72028809 72028810 PRF1base_D0067:g.5128C>T - D0067:g.5128C>T chr10 72030195 72030196 PRF1base_D0067:g.3742T>G - D0067:g.3742T>G chr10 72027853 72027855 PRF1base_D0067:g.6083_6084insT - D0067:g.6083_6084insT chr10 72028934 72028935 PRF1base_D0067:g.5003T>G - D0067:g.5003T>G chr10 72028646 72028647 PRF1base_D0067:g.5291G>A - D0067:g.5291G>A chr10 72028905 72028906 PRF1base_D0067:g.5032T>C - D0067:g.5032T>C chr10 72028253 72028254 PRF1base_D0067:g.5684G>C - D0067:g.5684G>C chr10 72028881 72028882 PRF1base_D0067:g.5056C>A - D0067:g.5056C>A chr10 72028627 72028630 PRF1base_D0067:g.5308_5310delAAG - D0067:g.5308_5310delAAG chr10 72028820 72028821 PRF1base_D0067:g.5117C>T - D0067:g.5117C>T chr10 72028816 72028817 PRF1base_D0067:g.5121C>A - D0067:g.5121C>A chr10 72027846 72027847 PRF1base_D0067:g.6091delC - D0067:g.6091delC chr10 72028817 72028818 PRF1base_D0067:g.5120A>G - D0067:g.5120A>G chr10 72028811 72028812 PRF1base_D0067:g.5126T>A - D0067:g.5126T>A chr10 72028196 72028197 PRF1base_D0067:g.5741G>A - D0067:g.5741G>A chr10 72028788 72028789 PRF1base_D0067:g.5149C>T - D0067:g.5149C>T chr10 72028300 72028302 PRF1base_D0067:g.5636_5637insT - D0067:g.5636_5637insT chr10 72028291 72028293 PRF1base_D0067:g.5645_5646insTG - D0067:g.5645_5646insTG chr10 72028764 72028765 PRF1base_D0067:g.5173C>G - D0067:g.5173C>G chr10 72028727 72028728 PRF1base_D0067:g.5210A>G - D0067:g.5210A>G chr10 72028701 72028702 PRF1base_D0067:g.5236G>A - D0067:g.5236G>A chr10 72028620 72028632 PRF1base_D0067:g.5306_5317del - D0067:g.5306_5317del chr10 72028568 72028569 PRF1base_D0067:g.5369G>A - D0067:g.5369G>A chr10 72028416 72028417 PRF1base_D0067:g.5521C>T - D0067:g.5521C>T chr10 72028448 72028449 PRF1base_D0067:g.5489C>T - D0067:g.5489C>T chr10 72028399 72028400 PRF1base_D0067:g.5538delG - D0067:g.5538delG chr10 72027991 72027992 PRF1base_D0067:g.5946T>A - D0067:g.5946T>A chr10 72028236 72028237 PRF1base_D0067:g.5701C>T - D0067:g.5701C>T chr10 72028178 72028179 PRF1base_D0067:g.5759C>T - D0067:g.5759C>T chr10 72028133 72028134 PRF1base_D0067:g.5804C>T - D0067:g.5804C>T chr10 72028106 72028107 PRF1base_D0067:g.5831C>T - D0067:g.5831C>T chr10 72027906 72027907 PRF1base_D0067:g.6031delT - D0067:g.6031delT chr1 195410526 195410532 PTPRCbase_D0068:g.71646_71651delATGAGT + D0068:g.71646_71651delATGAGT chr1 195417626 195417627 PTPRCbase_D0068:g.78746G>A + D0068:g.78746G>A chr15 53314275 53314276 RAB27Abase_D0069:g.36819delG - D0069:g.36819delG chr15 53309912 53309913 RAB27Abase_D0069:g.41182T>G - D0069:g.41182T>G chr15 53303499 53303500 RAB27Abase_D0069:g.47595C>T - D0069:g.47595C>T chr15 53303493 53303494 RAB27Abase_D0069:g.47601C>T - D0069:g.47601C>T chr15 53303377 53303378 RAB27Abase_D0069:g.47717G>C - D0069:g.47717G>C chr15 53303456 53303457 RAB27Abase_D0069:g.47638T>C - D0069:g.47638T>C chr15 53303444 53303446 RAB27Abase_D0069:g.47649_47650delAA - D0069:g.47649_47650delAA chr15 53303391 53303392 RAB27Abase_D0069:g.47703G>C - D0069:g.47703G>C chr15 53285148 53285153 RAB27Abase_D0069:g.65942_65946delAAGCC - D0069:g.65942_65946delAAGCC chr15 53285112 53285113 RAB27Abase_D0069:g.65982C>T - D0069:g.65982C>T chr15 53309887 53309888 RAB27Abase_D0069:g.41207A>G - D0069:g.41207A>G chr22 35953397 35953398 RAC2base_D0070:g.12413G>A - D0070:g.12413G>A chr11 36551685 36551687 RAG1base_HSRAG1:g.368_369delAA + HSRAG1:g.368_369delAA chr11 36552715 36552716 RAG1base_HSRAG1:g.1398A>G + HSRAG1:g.1398A>G chr11 36553299 36553300 RAG1base_HSRAG1:g.1982C>T + HSRAG1:g.1982C>T chr11 36553355 36553357 RAG1base_HSRAG1:g.2038_2039ins + HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA chr11 36553593 36553594 RAG1base_HSRAG1:g.2276G>A + HSRAG1:g.2276G>A chr11 36551685 36551687 RAG1base_RAG1_DNA:g.6548_6549delAA + RAG1_DNA:g.6548_6549delAA chr11 36552428 36552429 RAG1base_RAG1_DNA:g.7291T>A + RAG1_DNA:g.7291T>A chr11 36551948 36551949 RAG1base_HSRAG1:g.631delT + HSRAG1:g.631delT chr11 36551948 36551949 RAG1base_RAG1_DNA:g.6811delT + RAG1_DNA:g.6811delT chr11 36552204 36552205 RAG1base_HSRAG1:g.887delA + HSRAG1:g.887delA chr11 36552412 36552413 RAG1base_HSRAG1:g.1095G>A + HSRAG1:g.1095G>A chr11 36552490 36552491 RAG1base_HSRAG1:g.1173delT + HSRAG1:g.1173delT chr11 36554044 36554045 RAG1base_HSRAG1:g.2727T>A + HSRAG1:g.2727T>A chr11 36552575 36552576 RAG1base_HSRAG1:g.1258delA + HSRAG1:g.1258delA chr11 36552615 36552616 RAG1base_HSRAG1:g.1298C>T + HSRAG1:g.1298C>T chr11 36554083 36554084 RAG1base_HSRAG1:g.2766T>G + HSRAG1:g.2766T>G chr11 36554164 36554165 RAG1base_HSRAG1:g.2847A>G + HSRAG1:g.2847A>G chr11 36552616 36552617 RAG1base_HSRAG1:g.1299G>A + HSRAG1:g.1299G>A chr11 36553040 36553053 RAG1base_HSRAG1:g.1723_1735del + HSRAG1:g.1723_1735del chr11 36552616 36552617 RAG1base_HSRAG1:g.1299G>T + HSRAG1:g.1299G>T chr11 36554353 36554354 RAG1base_HSRAG1:g.3036G>A + HSRAG1:g.3036G>A chr11 36552640 36552641 RAG1base_RAG1_DNA:g.7503G>A + RAG1_DNA:g.7503G>A chr11 36552639 36552640 RAG1base_RAG1_DNA:g.7502C>T + RAG1_DNA:g.7502C>T chr11 36554052 36554053 RAG1base_RAG1_DNA:g.8915delT + RAG1_DNA:g.8915delT chr11 36552658 36552659 RAG1base_HSRAG1:g.1341G>A + HSRAG1:g.1341G>A chr11 36553950 36553951 RAG1base_HSRAG1:g.2633C>T + HSRAG1:g.2633C>T chr11 36552726 36552727 RAG1base_HSRAG1:g.1409G>A + HSRAG1:g.1409G>A chr11 36552760 36552761 RAG1base_HSRAG1:g.1443C>T + HSRAG1:g.1443C>T chr11 36552732 36552733 RAG1base_HSRAG1:g.1415A>G + HSRAG1:g.1415A>G chr11 36553106 36553107 RAG1base_HSRAG1:g.1789G>T + HSRAG1:g.1789G>T chr11 36552838 36552840 RAG1base_HSRAG1:g.1521_1522delGC + HSRAG1:g.1521_1522delGC chr11 36552850 36552851 RAG1base_HSRAG1:g.1533G>A + HSRAG1:g.1533G>A chr11 36553687 36553688 RAG1base_HSRAG1:g.2370A>T + HSRAG1:g.2370A>T chr11 36552850 36552851 RAG1base_RAG1_DNA:g.7713G>A + RAG1_DNA:g.7713G>A chr11 36553618 36553619 RAG1base_RAG1_DNA:g.8481G>T + RAG1_DNA:g.8481G>T chr11 36552948 36552949 RAG1base_HSRAG1:g.1631C>T + HSRAG1:g.1631C>T chr11 36553110 36553111 RAG1base_HSRAG1:g.1793C>T + HSRAG1:g.1793C>T chr11 36552995 36552996 RAG1base_HSRAG1:g.1678G>T + HSRAG1:g.1678G>T chr11 36553106 36553107 RAG1base_RAG1_DNA:g.7969G>T + RAG1_DNA:g.7969G>T chr11 36554118 36554119 RAG1base_RAG1_DNA:g.8981C>T + RAG1_DNA:g.8981C>T chr11 36553111 36553112 RAG1base_HSRAG1:g.1794G>A + HSRAG1:g.1794G>A chr11 36553639 36553640 RAG1base_HSRAG1:g.2322G>A + HSRAG1:g.2322G>A chr11 36553111 36553112 RAG1base_RAG1_DNA:g.7974G>A + RAG1_DNA:g.7974G>A chr11 36553196 36553197 RAG1base_HSRAG1:g.1879C>G + HSRAG1:g.1879C>G chr11 36553300 36553301 RAG1base_HSRAG1:g.1983G>A + HSRAG1:g.1983G>A chr11 36554118 36554119 RAG1base_HSRAG1:g.2801C>T + HSRAG1:g.2801C>T chr11 36553300 36553301 RAG1base_RAG1_DNA:g.8163G>A + RAG1_DNA:g.8163G>A chr11 36554403 36554404 RAG1base_RAG1_DNA:g.9266A>G + RAG1_DNA:g.9266A>G chr11 36553435 36553436 RAG1base_HSRAG1:g.2118A>G + HSRAG1:g.2118A>G chr11 36554129 36554130 RAG1base_HSRAG1:g.2812C>A + HSRAG1:g.2812C>A chr11 36553499 36553507 RAG1base_HSRAG1:g.2182_2189delAATGCTTG + HSRAG1:g.2182_2189delAATGCTTG chr11 36553749 36553750 RAG1base_HSRAG1:g.2432G>T + HSRAG1:g.2432G>T chr11 36553623 36553624 RAG1base_RAG1_DNA:g.8486C>T + RAG1_DNA:g.8486C>T chr11 36553993 36553994 RAG1base_HSRAG1:g.2676A>T + HSRAG1:g.2676A>T chr11 36554243 36554244 RAG1base_HSRAG1:g.2926T>G + HSRAG1:g.2926T>G chr11 36554305 36554306 RAG1base_HSRAG1:g.2988G>A + HSRAG1:g.2988G>A chr11 36554347 36554348 RAG1base_RAG1_DNA:g.9210G>A + RAG1_DNA:g.9210G>A chr11 36572248 36572249 RAG2base_RAG2_DNA:g.5114C>T - RAG2_DNA:g.5114C>T chr11 36572190 36572191 RAG2base_HSRAG2X:g.1305G>T - HSRAG2X:g.1305G>T chr11 36572190 36572191 RAG2base_RAG2_DNA:g.5172G>T - RAG2_DNA:g.5172G>T chr11 36572179 36572180 RAG2base_HSRAG2X:g.1316A>G - HSRAG2X:g.1316A>G chr11 36571608 36571609 RAG2base_HSRAG2X:g.1887G>A - HSRAG2X:g.1887G>A chr11 36572179 36572180 RAG2base_RAG2_DNA:g.5183A>G - RAG2_DNA:g.5183A>G chr11 36571608 36571609 RAG2base_RAG2_DNA:g.5754G>A - RAG2_DNA:g.5754G>A chr11 36572171 36572172 RAG2base_HSRAG2X:g.1324C>G - HSRAG2X:g.1324C>G chr11 36571440 36571441 RAG2base_HSRAG2X:g.2055T>G - HSRAG2X:g.2055T>G chr11 36572011 36572012 RAG2base_HSRAG2X:g.1484G>A - HSRAG2X:g.1484G>A chr11 36570937 36570938 RAG2base_HSRAG2X:g.2558T>A - HSRAG2X:g.2558T>A chr11 36572011 36572012 RAG2base_RAG2_DNA:g.5351G>A - RAG2_DNA:g.5351G>A chr11 36571609 36571610 RAG2base_RAG2_DNA:g.5753C>T - RAG2_DNA:g.5753C>T chr11 36571830 36571832 RAG2base_HSRAG2X:g.1664_1665insTGTTC - HSRAG2X:g.1664_1665insTGTTC chr11 36571852 36571853 RAG2base_HSRAG2X:g.1643C>T - HSRAG2X:g.1643C>T chr11 36571677 36571678 RAG2base_HSRAG2X:g.1818T>G - HSRAG2X:g.1818T>G chr11 36571650 36571651 RAG2base_RAG2_DNA:g.5712C>T - RAG2_DNA:g.5712C>T chr11 36571609 36571610 RAG2base_HSRAG2X:g.1886C>T - HSRAG2X:g.1886C>T chr11 36571582 36571583 RAG2base_RAG2_DNA:g.5780delG - RAG2_DNA:g.5780delG chr11 36571475 36571478 RAG2base_HSRAG2X:g.2018_2020delATT - HSRAG2X:g.2018_2020delATT chr11 36571373 36571374 RAG2base_HSRAG2X:g.2122G>A - HSRAG2X:g.2122G>A chr11 36570937 36570938 RAG2base_RAG2_DNA:g.6425T>A - RAG2_DNA:g.6425T>A chr11 36570873 36570874 RAG2base_HSRAG2X:g.2622A>G - HSRAG2X:g.2622A>G chr11 36570861 36570862 RAG2base_HSRAG2X:g.2634G>A - HSRAG2X:g.2634G>A chr11 36570852 36570853 RAG2base_RAG2_DNA:g.6510A>C - RAG2_DNA:g.6510A>C chr11 64253092 64253093 RASGRP2base_D0127:g.16936C>A - D0127:g.16936C>A chr1 148129992 148129993 RFX5base_D0073:g.32168G>A - D0073:g.32168G>A chr1 148128705 148128706 RFX5base_D0073:g.33455C>T - D0073:g.33455C>T chr1 148128624 148128625 RFX5base_D0073:g.33536C>T - D0073:g.33536C>T chr1 148131748 148131749 RFX5base_D0073:g.30412G>A - D0073:g.30412G>A chr1 148130737 148130738 RFX5base_D0073:g.31423G>A - D0073:g.31423G>A chr1 148130396 148130397 RFX5base_D0073:g.31764G>A - D0073:g.31764G>A chr19 19169026 19169027 RFXANKbase_D0074:g.5932G>T + D0074:g.5932G>T chr19 19169374 19169375 RFXANKbase_D0074:g.6280delT + D0074:g.6280delT chr19 19169914 19169915 RFXANKbase_D0074:g.6820G>T + D0074:g.6820G>T chr19 19169945 19169946 RFXANKbase_D0074:g.6851C>T + D0074:g.6851C>T chr19 19170484 19170485 RFXANKbase_D0074:g.7390T>C + D0074:g.7390T>C chr19 19168855 19168856 RFXANKbase_D0074:g.5761G>C + D0074:g.5761G>C chr19 19168859 19168860 RFXANKbase_D0074:g.5765G>A + D0074:g.5765G>A chr19 19169304 19169330 RFXANKbase_D0074:g.6210_6235del + D0074:g.6210_6235del chr19 19169407 19169465 RFXANKbase_D0074:g.6313_6370del + D0074:g.6313_6370del chr13 36291527 36291529 RFXAPbase_D0075:g.52509_52510insGCGGGGC + D0075:g.52509_52510insGCGGGGC chr13 36291656 36291657 RFXAPbase_D0075:g.52638C>T + D0075:g.52638C>T chr13 36291861 36291862 RFXAPbase_D0075:g.52843delG + D0075:g.52843delG chr7 65904498 65904499 SBDSbase_D0076:g.1240G>A - D0076:g.1240G>A chr7 65903346 65903347 SBDSbase_D0076:g.2392T>C - D0076:g.2392T>C chr7 65904461 65904462 SBDSbase_D0076:g.1277C>G - D0076:g.1277C>G chr7 65904459 65904460 SBDSbase_D0076:g.1279A>G - D0076:g.1279A>G chr7 65904457 65904458 SBDSbase_D0076:g.1281A>G - D0076:g.1281A>G chr7 65904453 65904454 SBDSbase_D0076:g.1285A>T - D0076:g.1285A>T chr7 65904454 65904455 SBDSbase_D0076:g.1284dupA - D0076:g.1284dupA chr7 65904447 65904448 SBDSbase_D0076:g.1291delT - D0076:g.1291delT chr7 65904435 65904436 SBDSbase_D0076:g.1303delG - D0076:g.1303delG chr7 65904431 65904432 SBDSbase_D0076:g.1307delC - D0076:g.1307delC chr7 65903475 65903476 SBDSbase_D0076:g.2263A>G - D0076:g.2263A>G chr7 65903422 65903424 SBDSbase_D0076:g.2315_2316delinsCT - D0076:g.2315_2316delinsCT chr7 65902458 65902459 SBDSbase_D0076:g.3280A>C - D0076:g.3280A>C chr7 65903394 65903395 SBDSbase_D0076:g.2344T>C - D0076:g.2344T>C chr7 65903356 65903357 SBDSbase_D0076:g.2382T>C - D0076:g.2382T>C chr7 65902552 65902553 SBDSbase_D0076:g.3186T>C - D0076:g.3186T>C chr7 65902528 65902534 SBDSbase_D0076:g.3205_3210delTCAAGT - D0076:g.3205_3210delTCAAGT chr7 65902517 65902521 SBDSbase_D0076:g.3218_3221delAAAG - D0076:g.3218_3221delAAAG chr7 65902512 65902516 SBDSbase_D0076:g.3223_3226delAAGA - D0076:g.3223_3226delAAGA chr7 65902504 65902506 SBDSbase_D0076:g.3233_3234delCA - D0076:g.3233_3234delCA chr7 65902450 65902451 SBDSbase_D0076:g.3288A>C - D0076:g.3288A>C chr7 65900374 65900375 SBDSbase_D0076:g.5364C>T - D0076:g.5364C>T chr7 65902384 65902385 SBDSbase_D0076:g.3354C>T - D0076:g.3354C>T chr7 65902369 65902370 SBDSbase_D0076:g.3369A>G - D0076:g.3369A>G chr7 65902354 65902355 SBDSbase_D0076:g.3384A>G - D0076:g.3384A>G chr7 65900392 65900393 SBDSbase_D0076:g.5346C>T - D0076:g.5346C>T chr7 65900391 65900392 SBDSbase_D0076:g.5347G>T - D0076:g.5347G>T chr7 65897608 65897609 SBDSbase_D0076:g.8130C>T - D0076:g.8130C>T chr7 65900272 65900273 SBDSbase_D0076:g.5466G>C - D0076:g.5466G>C chr7 65900438 65900439 SBDSbase_D0076:g.5300G>A - D0076:g.5300G>A chr11 57122328 57122330 SERPING1base_D0077:g.1778_1779dupGGCCTCCA + D0077:g.1778_1779dupGGCCTCCA chr11 57123940 57123941 SERPING1base_D0077:g.3391C>G + D0077:g.3391C>G chr11 57123969 57123970 SERPING1base_D0077:g.3420C>T + D0077:g.3420C>T chr11 57123981 57123983 SERPING1base_D0077:g.3432_3433delAG + D0077:g.3432_3433delAG chr11 57123995 57123997 SERPING1base_D0077:g.3446_3447delAG + D0077:g.3446_3447delAG chr11 57123995 57123996 SERPING1base_D0077:g.3446delA + D0077:g.3446delA chr11 57124035 57124036 SERPING1base_D0077:g.3486delC + D0077:g.3486delC chr11 57124039 57124040 SERPING1base_D0077:g.3490delT + D0077:g.3490delT chr11 57124062 57124063 SERPING1base_D0077:g.3513delT + D0077:g.3513delT chr11 57124084 57124085 SERPING1base_D0077:g.3535C>G + D0077:g.3535C>G chr11 57124145 57124146 SERPING1base_D0077:g.3596delC + D0077:g.3596delC chr11 57124166 57124171 SERPING1base_D0077:g.3617_3621delACCCA + D0077:g.3617_3621delACCCA chr11 57124189 57124193 SERPING1base_D0077:g.3640_3643delCAAC + D0077:g.3640_3643delCAAC chr11 57124198 57124199 SERPING1base_D0077:g.3649dupA + D0077:g.3649dupA chr11 57124221 57124222 SERPING1base_D0077:g.3672C>T + D0077:g.3672C>T chr11 57124264 57124265 SERPING1base_D0077:g.3715G>A + D0077:g.3715G>A chr11 57124265 57124267 SERPING1base_D0077:g.3716_3717delCT + D0077:g.3716_3717delCT chr11 57124305 57124306 SERPING1base_D0077:g.3756delG + D0077:g.3756delG chr11 57124310 57124352 SERPING1base_D0077:g.3761_3802del + D0077:g.3761_3802del chr11 57124337 57124338 SERPING1base_D0077:g.3788C>G + D0077:g.3788C>G chr11 57124381 57124382 SERPING1base_D0077:g.3832T>C + D0077:g.3832T>C chr11 57124383 57124384 SERPING1base_D0077:g.3834T>C + D0077:g.3834T>C chr11 57124387 57124388 SERPING1base_D0077:g.3838C>T + D0077:g.3838C>T chr11 57126083 57126084 SERPING1base_D0077:g.5533G>A + D0077:g.5533G>A chr11 57124425 57124426 SERPING1base_D0077:g.3876G>A + D0077:g.3876G>A chr11 57124425 57124426 SERPING1base_D0077:g.3876G>C + D0077:g.3876G>C chr11 57126103 57126104 SERPING1base_D0077:g.5553delA + D0077:g.5553delA chr11 57126103 57126104 SERPING1base_D0077:g.5553dupA + D0077:g.5553dupA chr11 57126110 57126111 SERPING1base_D0077:g.5560T>C + D0077:g.5560T>C chr11 57126127 57126128 SERPING1base_D0077:g.5577T>A + D0077:g.5577T>A chr11 57126132 57126133 SERPING1base_D0077:g.5582delC + D0077:g.5582delC chr11 57126146 57126147 SERPING1base_D0077:g.5596G>A + D0077:g.5596G>A chr11 57126154 57126155 SERPING1base_D0077:g.5604delC + D0077:g.5604delC chr11 57126160 57126161 SERPING1base_D0077:g.5610delC + D0077:g.5610delC chr11 57126192 57126193 SERPING1base_D0077:g.5642dupA + D0077:g.5642dupA chr11 57126199 57126200 SERPING1base_D0077:g.5649C>T + D0077:g.5649C>T chr11 57126203 57126204 SERPING1base_D0077:g.5653T>G + D0077:g.5653T>G chr11 57130235 57130237 SERPING1base_D0077:g.9684_9685delinsAA + D0077:g.9684_9685delinsAA chr11 57130079 57130080 SERPING1base_D0077:g.9528T>C + D0077:g.9528T>C chr11 57130103 57130105 SERPING1base_D0077:g.9552_9553delinsT + D0077:g.9552_9553delinsT chr11 57130115 57130116 SERPING1base_D0077:g.9564C>G + D0077:g.9564C>G chr11 57130116 57130117 SERPING1base_D0077:g.9565delC + D0077:g.9565delC chr11 57130123 57130124 SERPING1base_D0077:g.9572delC + D0077:g.9572delC chr11 57121692 57121693 SERPING1base_D0077:g.1142C>G + D0077:g.1142C>G chr11 57130188 57130191 SERPING1base_D0077:g.9637_9639delCAA + D0077:g.9637_9639delCAA chr11 57130150 57130151 SERPING1base_D0077:g.9599G>T + D0077:g.9599G>T chr11 57130167 57130168 SERPING1base_D0077:g.9616G>A + D0077:g.9616G>A chr11 57130181 57130183 SERPING1base_D0077:g.9630_9631dupAACAC + D0077:g.9630_9631dupAACAC chr11 57130189 57130192 SERPING1base_D0077:g.9638_9640delAAG + D0077:g.9638_9640delAAG chr11 57130190 57130193 SERPING1base_D0077:g.9639_9641delAGA + D0077:g.9639_9641delAGA chr11 57130192 57130193 SERPING1base_D0077:g.9641A>G + D0077:g.9641A>G chr11 57130226 57130228 SERPING1base_D0077:g.9675_9676delCC + D0077:g.9675_9676delCC chr11 57130250 57130251 SERPING1base_D0077:g.9699T>C + D0077:g.9699T>C chr11 57130250 57130254 SERPING1base_D0077:g.9699_9702delTCTA + D0077:g.9699_9702delTCTA chr11 57130256 57130257 SERPING1base_D0077:g.9705T>G + D0077:g.9705T>G chr11 57130470 57130473 SERPING1base_D0077:g.9919_9921delACA + D0077:g.9919_9921delACA chr11 57130474 57130475 SERPING1base_D0077:g.9923T>G + D0077:g.9923T>G chr11 57130540 57130541 SERPING1base_D0077:g.9989T>C + D0077:g.9989T>C chr11 57130547 57130549 SERPING1base_D0077:g.9996_9997delCA + D0077:g.9996_9997delCA chr11 57130556 57130557 SERPING1base_D0077:g.10005C>G + D0077:g.10005C>G chr11 57135765 57135985 SERPING1base_D0077:g.15213_15432del + D0077:g.15213_15432del chr11 57135768 57135769 SERPING1base_D0077:g.15216G>A + D0077:g.15216G>A chr11 57135771 57135772 SERPING1base_D0077:g.15219C>T + D0077:g.15219C>T chr11 57135804 57135805 SERPING1base_D0077:g.15252delA + D0077:g.15252delA chr11 57135816 57135817 SERPING1base_D0077:g.15264C>T + D0077:g.15264C>T chr11 57135841 57135842 SERPING1base_D0077:g.15289delA + D0077:g.15289delA chr11 57135849 57135850 SERPING1base_D0077:g.15297C>T + D0077:g.15297C>T chr11 57135871 57135872 SERPING1base_D0077:g.15319T>C + D0077:g.15319T>C chr11 57135915 57135916 SERPING1base_D0077:g.15363A>C + D0077:g.15363A>C chr11 57135931 57135932 SERPING1base_D0077:g.15379C>T + D0077:g.15379C>T chr11 57135931 57135932 SERPING1base_D0077:g.15379C>G + D0077:g.15379C>G chr11 57135938 57135939 SERPING1base_D0077:g.15386dupC + D0077:g.15386dupC chr11 57135958 57135959 SERPING1base_D0077:g.15406A>T + D0077:g.15406A>T chr11 57135961 57135962 SERPING1base_D0077:g.15409T>C + D0077:g.15409T>C chr11 57135962 57135963 SERPING1base_D0077:g.15410delG + D0077:g.15410delG chr11 57135967 57135968 SERPING1base_D0077:g.15415C>A + D0077:g.15415C>A chr11 57138390 57138391 SERPING1base_D0077:g.17838delT + D0077:g.17838delT chr11 57138394 57138395 SERPING1base_D0077:g.17842dupA + D0077:g.17842dupA chr11 57138410 57138412 SERPING1base_D0077:g.17858_17859delTG + D0077:g.17858_17859delTG chr11 57138432 57138433 SERPING1base_D0077:g.17880delC + D0077:g.17880delC chr11 57138442 57138443 SERPING1base_D0077:g.17890delC + D0077:g.17890delC chr11 57138441 57138442 SERPING1base_D0077:g.17889delT + D0077:g.17889delT chr11 57138454 57138455 SERPING1base_D0077:g.17902A>G + D0077:g.17902A>G chr11 57138469 57138472 SERPING1base_D0077:g.17917_17919delinsT + D0077:g.17917_17919delinsT chr11 57138477 57138479 SERPING1base_D0077:g.17925_17926delGA + D0077:g.17925_17926delGA chr11 57138476 57138477 SERPING1base_D0077:g.17924dupA + D0077:g.17924dupA chr11 57138483 57138485 SERPING1base_D0077:g.17931_17932insTGT + D0077:g.17931_17932insTGT chr11 57138487 57138488 SERPING1base_D0077:g.17935T>A + D0077:g.17935T>A chr11 57138486 57138520 SERPING1base_D0077:g.17934_17967del + D0077:g.17934_17967del chr11 57138493 57138494 SERPING1base_D0077:g.17941C>A + D0077:g.17941C>A chr11 57138498 57138499 SERPING1base_D0077:g.17946G>A + D0077:g.17946G>A chr11 57138504 57138505 SERPING1base_D0077:g.17952T>C + D0077:g.17952T>C chr11 57138508 57138510 SERPING1base_D0077:g.17956_17957dup + D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC chr11 57138511 57138512 SERPING1base_D0077:g.17959T>G + D0077:g.17959T>G chr11 57138509 57138510 SERPING1base_D0077:g.17957dupC + D0077:g.17957dupC chr11 57138522 57138523 SERPING1base_D0077:g.17970C>T + D0077:g.17970C>T chr11 57138523 57138524 SERPING1base_D0077:g.17971G>A + D0077:g.17971G>A chr11 57138523 57138524 SERPING1base_D0077:g.17971G>T + D0077:g.17971G>T chr11 57138523 57138524 SERPING1base_D0077:g.17971G>C + D0077:g.17971G>C chr11 57138522 57138523 SERPING1base_D0077:g.17970C>A + D0077:g.17970C>A chr11 57138525 57138526 SERPING1base_D0077:g.17973A>C + D0077:g.17973A>C chr11 57138524 57138526 SERPING1base_D0077:g.17972_17973dup + D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC chr11 57138544 57138545 SERPING1base_D0077:g.17992T>A + D0077:g.17992T>A chr11 57138544 57138545 SERPING1base_D0077:g.17992T>G + D0077:g.17992T>G chr11 57138543 57138544 SERPING1base_D0077:g.17991G>A + D0077:g.17991G>A chr11 57138546 57138547 SERPING1base_D0077:g.17994C>G + D0077:g.17994C>G chr11 57138568 57138569 SERPING1base_D0077:g.18016T>G + D0077:g.18016T>G chr11 57138556 57138557 SERPING1base_D0077:g.18004T>C + D0077:g.18004T>C chr11 57138561 57138562 SERPING1base_D0077:g.18009T>C + D0077:g.18009T>C chr11 57138568 57138569 SERPING1base_D0077:g.18016T>C + D0077:g.18016T>C chr11 57138572 57138573 SERPING1base_D0077:g.18020G>A + D0077:g.18020G>A chr11 57138576 57138577 SERPING1base_D0077:g.18024C>T + D0077:g.18024C>T chr11 57138592 57138593 SERPING1base_D0077:g.18040C>G + D0077:g.18040C>G chr11 57138595 57138596 SERPING1base_D0077:g.18043T>A + D0077:g.18043T>A chr11 57138601 57138602 SERPING1base_D0077:g.18049T>A + D0077:g.18049T>A chr11 57138604 57138605 SERPING1base_D0077:g.18052G>A + D0077:g.18052G>A chr11 57138603 57138604 SERPING1base_D0077:g.18051G>A + D0077:g.18051G>A chr11 57138606 57138607 SERPING1base_D0077:g.18054C>T + D0077:g.18054C>T chr11 57138619 57138620 SERPING1base_D0077:g.18067C>G + D0077:g.18067C>G chr11 57138618 57138619 SERPING1base_D0077:g.18066C>T + D0077:g.18066C>T chr11 57138627 57138628 SERPING1base_D0077:g.18075T>A + D0077:g.18075T>A chr11 57122296 57122297 SERPING1base_D0077:g.1746G>A + D0077:g.1746G>A chr11 57122374 57122375 SERPING1base_D0077:g.1824G>A + D0077:g.1824G>A chr11 57123925 57123926 SERPING1base_D0077:g.3376delA + D0077:g.3376delA chr11 57122370 57122371 SERPING1base_D0077:g.1820G>A + D0077:g.1820G>A chr11 57122372 57122373 SERPING1base_D0077:g.1822A>G + D0077:g.1822A>G chr11 57124426 57124427 SERPING1base_D0077:g.3877G>A + D0077:g.3877G>A chr11 57124427 57124428 SERPING1base_D0077:g.3878dupT + D0077:g.3878dupT chr11 57124427 57124428 SERPING1base_D0077:g.3878T>C + D0077:g.3878T>C chr11 57124430 57124431 SERPING1base_D0077:g.3881G>C + D0077:g.3881G>C chr11 57124430 57124431 SERPING1base_D0077:g.3881G>A + D0077:g.3881G>A chr11 57126081 57126082 SERPING1base_D0077:g.5531delA + D0077:g.5531delA chr11 57130055 57130056 SERPING1base_D0077:g.9504C>G + D0077:g.9504C>G chr11 57130454 57130455 SERPING1base_D0077:g.9903A>G + D0077:g.9903A>G chr11 57130263 57130264 SERPING1base_D0077:g.9712T>C + D0077:g.9712T>C chr11 57130455 57130456 SERPING1base_D0077:g.9904G>A + D0077:g.9904G>A chr11 57130596 57130597 SERPING1base_D0077:g.10045G>T + D0077:g.10045G>T chr11 57135753 57135781 SERPING1base_D0077:g.15201_15228del + D0077:g.15201_15228del chr11 57135763 57135767 SERPING1base_D0077:g.15211_15214delinsGCA + D0077:g.15211_15214delinsGCA chr11 57135764 57135765 SERPING1base_D0077:g.15212G>C + D0077:g.15212G>C chr11 57130254 57130255 SERPING1base_D0077:g.9703C>G + D0077:g.9703C>G chr11 57121630 57121631 SERPING1base_D0077:g.1080C>T + D0077:g.1080C>T chr11 57135764 57135765 SERPING1base_D0077:g.15212G>A + D0077:g.15212G>A chr11 57135986 57135987 SERPING1base_D0077:g.15434T>A + D0077:g.15434T>A chr11 57135986 57135987 SERPING1base_D0077:g.15434delT + D0077:g.15434delT chr11 57124897 57127519 SERPING1base_D0077:g.4348_6970del + D0077:g.4348_6970del chr11 57124820 57128019 SERPING1base_D0077:g.4271_7470del + D0077:g.4271_7470del chr11 57124924 57127812 SERPING1base_D0077:g.4375_7263del + D0077:g.4375_7263del chrX 123206046 123206047 SH2D1Abase_D0078:g.39340A>G + D0078:g.39340A>G chrX 123206048 123206049 SH2D1Abase_D0078:g.39342C>G + D0078:g.39342C>G chrX 123206049 123206050 SH2D1Abase_D0078:g.39343A>C + D0078:g.39343A>C chrX 123206073 123206074 SH2D1Abase_D0078:g.39367G>A + D0078:g.39367G>A chrX 123206105 123206106 SH2D1Abase_D0078:g.39399G>A + D0078:g.39399G>A chrX 123206110 123206111 SH2D1Abase_D0078:g.39404C>G + D0078:g.39404C>G chrX 123206118 123206119 SH2D1Abase_D0078:g.39412T>C + D0078:g.39412T>C chrX 123206121 123206122 SH2D1Abase_D0078:g.39415G>C + D0078:g.39415G>C chrX 123206123 123206124 SH2D1Abase_D0078:g.39417G>T + D0078:g.39417G>T chrX 123206126 123206127 SH2D1Abase_D0078:g.39420A>G + D0078:g.39420A>G chrX 123206128 123206129 SH2D1Abase_D0078:g.39422C>A + D0078:g.39422C>A chrX 123206152 123206153 SH2D1Abase_D0078:g.39446C>G + D0078:g.39446C>G chrX 123225145 123225209 SH2D1Abase_D0078:g.58439_58502del + D0078:g.58439_58502del chrX 123225147 123225194 SH2D1Abase_D0078:g.58441_58487del + D0078:g.58441_58487del chrX 123225153 123225154 SH2D1Abase_D0078:g.58447G>T + D0078:g.58447G>T chrX 123225153 123225154 SH2D1Abase_D0078:g.58447dupG + D0078:g.58447dupG chrX 123225165 123225166 SH2D1Abase_D0078:g.58459C>G + D0078:g.58459C>G chrX 123225168 123225169 SH2D1Abase_D0078:g.58462A>G + D0078:g.58462A>G chrX 123225171 123225172 SH2D1Abase_D0078:g.58465G>T + D0078:g.58465G>T chrX 123225170 123225171 SH2D1Abase_D0078:g.58464C>T + D0078:g.58464C>T chrX 123225179 123225180 SH2D1Abase_D0078:g.58473C>T + D0078:g.58473C>T chrX 123225198 123225199 SH2D1Abase_D0078:g.58492G>A + D0078:g.58492G>A chrX 123225208 123225209 SH2D1Abase_D0078:g.58502G>T + D0078:g.58502G>T chrX 123229561 123229562 SH2D1Abase_D0078:g.62855C>T + D0078:g.62855C>T chrX 123229586 123229587 SH2D1Abase_D0078:g.62880T>A + D0078:g.62880T>A chrX 123229597 123229601 SH2D1Abase_D0078:g.62891_62894delTAAA + D0078:g.62891_62894delTAAA chrX 123229603 123229604 SH2D1Abase_D0078:g.62897dupA + D0078:g.62897dupA chrX 123229607 123229615 SH2D1Abase_D0078:g.62901_62908delCATTTCAG + D0078:g.62901_62908delCATTTCAG chrX 123229609 123229610 SH2D1Abase_D0078:g.62903T>C + D0078:g.62903T>C chrX 123229618 123229619 SH2D1Abase_D0078:g.62912T>C + D0078:g.62912T>C chrX 123229643 123229644 SH2D1Abase_D0078:g.62937delA + D0078:g.62937delA chrX 123229654 123229655 SH2D1Abase_D0078:g.62948A>C + D0078:g.62948A>C chrX 123229658 123229659 SH2D1Abase_D0078:g.62952T>A + D0078:g.62952T>A chrX 123229660 123229661 SH2D1Abase_D0078:g.62954C>T + D0078:g.62954C>T chrX 123229663 123229664 SH2D1Abase_D0078:g.62957T>G + D0078:g.62957T>G chrX 123230773 123230774 SH2D1Abase_D0078:g.64067T>A + D0078:g.64067T>A chrX 123225142 123225143 SH2D1Abase_D0078:g.58436C>G + D0078:g.58436C>G chrX 123206164 123206165 SH2D1Abase_D0078:g.39458G>A + D0078:g.39458G>A chrX 123225143 123225144 SH2D1Abase_D0078:g.58437A>C + D0078:g.58437A>C chrX 123225143 123225144 SH2D1Abase_D0078:g.58437A>G + D0078:g.58437A>G chrX 123229559 123229560 SH2D1Abase_D0078:g.62853G>C + D0078:g.62853G>C chrX 123225209 123225210 SH2D1Abase_D0078:g.58503G>A + D0078:g.58503G>A chrX 123225211 123225212 SH2D1Abase_D0078:g.58505A>G + D0078:g.58505A>G chrX 123229559 123229560 SH2D1Abase_D0078:g.62853delG + D0078:g.62853delG chrX 123230703 123230708 SH2D1Abase_D0078:g.63997_64001delATTTT + D0078:g.63997_64001delATTTT chrX 123205718 123205719 SH2D1Abase_D0078:g.39012C>T + D0078:g.39012C>T chr11 45784366 45784367 SLC35C1base_D0036:g.1434C>T + D0036:g.1434C>T chr11 45788954 45788955 SLC35C1base_D0036:g.6022delG + D0036:g.6022delG chr11 45789289 45789290 SLC35C1base_D0036:g.6357C>G + D0036:g.6357C>G chr2 217104981 217104982 SMARCAL1base_D0079:g.1049C>T + D0079:g.1049C>T chr2 217105032 217105033 SMARCAL1base_D0079:g.1100C>T + D0079:g.1100C>T chr2 217106509 217106510 SMARCAL1base_D0079:g.2577T>C + D0079:g.2577T>C chr2 217168444 217168445 SMARCAL1base_D0079:g.64512G>T + D0079:g.64512G>T chr2 217113900 217113901 SMARCAL1base_D0079:g.9968A>C + D0079:g.9968A>C chr2 217110619 217110620 SMARCAL1base_D0079:g.6687C>T + D0079:g.6687C>T chr2 217113896 217113897 SMARCAL1base_D0079:g.9964G>T + D0079:g.9964G>T chr2 217123013 217123014 SMARCAL1base_D0079:g.19081G>C + D0079:g.19081G>C chr2 217154868 217154869 SMARCAL1base_D0079:g.50936C>T + D0079:g.50936C>T chr2 217125723 217125724 SMARCAL1base_D0079:g.21791T>A + D0079:g.21791T>A chr2 217141155 217141156 SMARCAL1base_D0079:g.37223C>T + D0079:g.37223C>T chr2 217128684 217128685 SMARCAL1base_D0079:g.24752C>T + D0079:g.24752C>T chr2 217165573 217165574 SMARCAL1base_D0079:g.61641C>A + D0079:g.61641C>A chr2 217137271 217137272 SMARCAL1base_D0079:g.33339C>T + D0079:g.33339C>T chr2 217137291 217137292 SMARCAL1base_D0079:g.33359C>T + D0079:g.33359C>T chr2 217167368 217167369 SMARCAL1base_D0079:g.63436G>A + D0079:g.63436G>A chr2 217141096 217141097 SMARCAL1base_D0079:g.37164C>G + D0079:g.37164C>G chr2 217141161 217141162 SMARCAL1base_D0079:g.37229A>C + D0079:g.37229A>C chr2 217141162 217141163 SMARCAL1base_D0079:g.37230A>C + D0079:g.37230A>C chr2 217165543 217165544 SMARCAL1base_D0079:g.61611G>A + D0079:g.61611G>A chr2 217113859 217113860 SMARCAL1base_D0079:g.9927A>G + D0079:g.9927A>G chr2 217119011 217119013 SMARCAL1base_D0079:g.15079_15080delGT + D0079:g.15079_15080delGT chr2 217110765 217110766 SMARCAL1base_D0079:g.6833G>A + D0079:g.6833G>A chr2 217113910 217113914 SMARCAL1base_D0079:g.9978_9981delAAGT + D0079:g.9978_9981delAAGT chr2 230907107 230907108 SP110base_D0116:g.4051delC - D0116:g.4051delC chr2 230902591 230902592 SP110base_D0116:g.8567delC - D0116:g.8567delC chr5 147430132 147430133 SPINK5base_D0080:g.7333C>T + D0080:g.7333C>T chr5 147431931 147431932 SPINK5base_D0080:g.9132dupG + D0080:g.9132dupG chr5 147430149 147430150 SPINK5base_D0080:g.7350delT + D0080:g.7350delT chr5 147425129 147425130 SPINK5base_D0080:g.2330T>A + D0080:g.2330T>A chr5 147450966 147450967 SPINK5base_D0080:g.28167C>T + D0080:g.28167C>T chr5 147446184 147446185 SPINK5base_D0080:g.23385G>T + D0080:g.23385G>T chr5 147476217 147476227 SPINK5base_D0080:g.53418_53427del + D0080:g.53418_53427del chr5 147446254 147446256 SPINK5base_D0080:g.23455_23456delAT + D0080:g.23455_23456delAT chr5 147479818 147479819 SPINK5base_D0080:g.57019C>T + D0080:g.57019C>T chr5 147446268 147446270 SPINK5base_D0080:g.23469_23470insCGTG + D0080:g.23469_23470insCGTG chr5 147446269 147446271 SPINK5base_D0080:g.23470_23471dupGTGC + D0080:g.23470_23471dupGTGC chr5 147446276 147446278 SPINK5base_D0080:g.23477_23478delTG + D0080:g.23477_23478delTG chr5 147449355 147449357 SPINK5base_D0080:g.26556_26557delGT + D0080:g.26556_26557delGT chr5 147450945 147450946 SPINK5base_D0080:g.28146C>T + D0080:g.28146C>T chr5 147454133 147454134 SPINK5base_D0080:g.31334delC + D0080:g.31334delC chr5 147450969 147450970 SPINK5base_D0080:g.28170C>T + D0080:g.28170C>T chr5 147478320 147478321 SPINK5base_D0080:g.55521G>A + D0080:g.55521G>A chr5 147454157 147454158 SPINK5base_D0080:g.31358dupT + D0080:g.31358dupT chr5 147454162 147454164 SPINK5base_D0080:g.31363_31364insT + D0080:g.31363_31364insT chr5 147459014 147459016 SPINK5base_D0080:g.36215_36216dupGAAAA + D0080:g.36215_36216dupGAAAA chr5 147460227 147460228 SPINK5base_D0080:g.37428C>T + D0080:g.37428C>T chr5 147459064 147459066 SPINK5base_D0080:g.36265_36266delAT + D0080:g.36265_36266delAT chr5 147476150 147476152 SPINK5base_D0080:g.53351_53352delAG + D0080:g.53351_53352delAG chr5 147478216 147478217 SPINK5base_D0080:g.55417C>T + D0080:g.55417C>T chr5 147478760 147478761 SPINK5base_D0080:g.55961A>T + D0080:g.55961A>T chr5 147478763 147478764 SPINK5base_D0080:g.55964dupA + D0080:g.55964dupA chr5 147460337 147460338 SPINK5base_D0080:g.37538G>C + D0080:g.37538G>C chr5 147480076 147480077 SPINK5base_D0080:g.57277delA + D0080:g.57277delA chr5 147460266 147460268 SPINK5base_D0080:g.37467_37468delGA + D0080:g.37467_37468delGA chr5 147425127 147425128 SPINK5base_D0080:g.2328G>A + D0080:g.2328G>A chr5 147478758 147478759 SPINK5base_D0080:g.55959dupG + D0080:g.55959dupG chr5 147449247 147449248 SPINK5base_D0080:g.26448A>G + D0080:g.26448A>G chr5 147478764 147478765 SPINK5base_D0080:g.55965dupA + D0080:g.55965dupA chr5 147468507 147468508 SPINK5base_D0080:g.45708G>A + D0080:g.45708G>A chr5 147446158 147446159 SPINK5base_D0080:g.23359A>T + D0080:g.23359A>T chr5 147480076 147480077 SPINK5base_D0080:g.57277dupA + D0080:g.57277dupA chr5 147464695 147464696 SPINK5base_D0080:g.41896G>A + D0080:g.41896G>A chr5 147474116 147474117 SPINK5base_D0080:g.51317G>A + D0080:g.51317G>A chr5 147483628 147483629 SPINK5base_D0080:g.60829delA + D0080:g.60829delA chr5 147425132 147425133 SPINK5base_D0080:g.2333G>A + D0080:g.2333G>A chr5 147476222 147476223 SPINK5base_D0080:g.53423G>A + D0080:g.53423G>A chr5 147478813 147478814 SPINK5base_D0080:g.56014G>A + D0080:g.56014G>A chr2 191681538 191681539 STAT1base_D0081:g.23382G>C - D0081:g.23382G>C chr2 191673930 191673931 STAT1base_D0081:g.30990G>T - D0081:g.30990G>T chr2 191669199 191669201 STAT1base_D0081:g.35720_35721delAG - D0081:g.35720_35721delAG chr2 191669161 191669162 STAT1base_D0081:g.35759T>C - D0081:g.35759T>C chr2 191666061 191666062 STAT1base_D0081:g.38859T>C - D0081:g.38859T>C chr17 37735185 37735186 STAT3base_D0128:g.57366G>T - D0128:g.57366G>T chr17 37735185 37735186 STAT3base_D0128:g.57366G>A - D0128:g.57366G>A chr17 37735186 37735187 STAT3base_D0128:g.57365C>T - D0128:g.57365C>T chr17 37735180 37735181 STAT3base_D0128:g.57371T>C - D0128:g.57371T>C chr17 37735179 37735180 STAT3base_D0128:g.57372T>C - D0128:g.57372T>C chr17 37735164 37735165 STAT3base_D0128:g.57387C>T - D0128:g.57387C>T chr17 37734966 37734967 STAT3base_D0128:g.57585G>A - D0128:g.57585G>A chr17 37731715 37731716 STAT3base_D0128:g.60836C>T - D0128:g.60836C>T chr17 37730581 37730584 STAT3base_D0128:g.61968_61970delGTG - D0128:g.61968_61970delGTG chr17 37730577 37730578 STAT3base_D0128:g.61974T>G - D0128:g.61974T>G chr17 37728603 37728604 STAT3base_D0128:g.63948G>A - D0128:g.63948G>A chr17 37728574 37728575 STAT3base_D0128:g.63977T>G - D0128:g.63977T>G chr17 37728570 37728571 STAT3base_D0128:g.63981C>T - D0128:g.63981C>T chr17 37728017 37728018 STAT3base_D0128:g.64534G>T - D0128:g.64534G>T chr17 37728017 37728018 STAT3base_D0128:g.64534G>A - D0128:g.64534G>A chr17 37728011 37728012 STAT3base_D0128:g.64540C>G - D0128:g.64540C>G chr17 37727994 37727997 STAT3base_D0128:g.64555_64557delCAG - D0128:g.64555_64557delCAG chr17 37727987 37727988 STAT3base_D0128:g.64564A>G - D0128:g.64564A>G chr17 37727972 37727973 STAT3base_D0128:g.64579G>A - D0128:g.64579G>A chr17 37727956 37727957 STAT3base_D0128:g.64595A>G - D0128:g.64595A>G chr17 37629021 37629022 STAT5Bbase_D0082:g.53986C>T - D0082:g.53986C>T chr17 37623761 37623762 STAT5Bbase_D0082:g.59246dupC - D0082:g.59246dupC chr17 37622986 37622987 STAT5Bbase_D0082:g.60021dupG - D0082:g.60021dupG chr17 37615732 37615733 STAT5Bbase_D0082:g.67275G>C - D0082:g.67275G>C chr6 144549825 144549833 STX11base_D0083:g.37465_37472delinsTGG + D0083:g.37465_37472delinsTGG chr6 144550258 144550259 STX11base_D0083:g.37898C>T + D0083:g.37898C>T chr6 32928216 32928217 TAP1base_D0084:g.26198delC - D0084:g.26198delC chr6 32926190 32926191 TAP1base_D0084:g.28224C>T - D0084:g.28224C>T chr6 32924408 32924409 TAP1base_D0084:g.30006C>T - D0084:g.30006C>T chr6 32928257 32928258 TAP1base_D0084:g.26157G>A - D0084:g.26157G>A chr6 32911478 32911479 TAP2base_D0085:g.42937C>T - D0085:g.42937C>T chr6 32908545 32908546 TAP2base_D0085:g.45870delA - D0085:g.45870delA chrX 153161036 153161038 TAZbase_TAZ_DNA:g.1312_1313insG + TAZ_DNA:g.1312_1313insG chrX 153161079 153161081 TAZbase_TAZ_DNA:g.1356_1357delCC + TAZ_DNA:g.1356_1357delCC chrX 153161282 153161283 TAZbase_TAZ_DNA:g.1559delC + TAZ_DNA:g.1559delC chrX 153161299 153161312 TAZbase_TAZ_DNA:g.1576_1588del + TAZ_DNA:g.1576_1588del chrX 153161312 153161313 TAZbase_TAZ_DNA:g.1589C>G + TAZ_DNA:g.1589C>G chrX 153161330 153161331 TAZbase_TAZ_DNA:g.1607delA + TAZ_DNA:g.1607delA chrX 153161366 153161367 TAZbase_TAZ_DNA:g.1643C>G + TAZ_DNA:g.1643C>G chrX 153162431 153162432 TAZbase_TAZ_DNA:g.2708C>T + TAZ_DNA:g.2708C>T chrX 153162431 153162432 TAZbase_TAZ_DNA:g.2708C>A + TAZ_DNA:g.2708C>A chrX 153168799 153168800 TAZbase_TAZ_DNA:g.9073T>A + TAZ_DNA:g.9073T>A chrX 153168802 153168803 TAZbase_TAZ_DNA:g.9076delC + TAZ_DNA:g.9076delC chrX 153168896 153168897 TAZbase_TAZ_DNA:g.9170T>G + TAZ_DNA:g.9170T>G chrX 153168910 153168911 TAZbase_TAZ_DNA:g.9184G>T + TAZ_DNA:g.9184G>T chrX 153168928 153168929 TAZbase_TAZ_DNA:g.9202dupT + TAZ_DNA:g.9202dupT chrX 153169223 153169224 TAZbase_TAZ_DNA:g.9497G>A + TAZ_DNA:g.9497G>A chrX 153169222 153169223 TAZbase_TAZ_DNA:g.9496G>A + TAZ_DNA:g.9496G>A chrX 153169259 153169260 TAZbase_TAZ_DNA:g.9533T>A + TAZ_DNA:g.9533T>A chrX 153169262 153169263 TAZbase_TAZ_DNA:g.9536T>G + TAZ_DNA:g.9536T>G chrX 153169268 153169269 TAZbase_TAZ_DNA:g.9542T>C + TAZ_DNA:g.9542T>C chrX 153169434 153169435 TAZbase_TAZ_DNA:g.9708delC + TAZ_DNA:g.9708delC chrX 153169447 153169448 TAZbase_TAZ_DNA:g.9721C>T + TAZ_DNA:g.9721C>T chrX 153169846 153169847 TAZbase_TAZ_DNA:g.10120dupA + TAZ_DNA:g.10120dupA chrX 153169861 153169862 TAZbase_TAZ_DNA:g.10135G>A + TAZ_DNA:g.10135G>A chrX 153161140 153161141 TAZbase_TAZ_DNA:g.1417G>A + TAZ_DNA:g.1417G>A chrX 153161140 153161141 TAZbase_TAZ_DNA:g.1417G>C + TAZ_DNA:g.1417G>C chrX 153161267 153161268 TAZbase_TAZ_DNA:g.1544A>G + TAZ_DNA:g.1544A>G chrX 153162389 153162390 TAZbase_TAZ_DNA:g.2666G>C + TAZ_DNA:g.2666G>C chrX 153162389 153162390 TAZbase_TAZ_DNA:g.2666G>A + TAZ_DNA:g.2666G>A chrX 153161399 153161400 TAZbase_TAZ_DNA:g.1676T>G + TAZ_DNA:g.1676T>G chrX 153162545 153162546 TAZbase_TAZ_DNA:g.2822G>A + TAZ_DNA:g.2822G>A chrX 153169396 153169397 TAZbase_TAZ_DNA:g.9670G>C + TAZ_DNA:g.9670G>C chrX 153169922 153169923 TAZbase_TAZ_DNA:g.10196T>A + TAZ_DNA:g.10196T>A chr11 67565434 67565435 TCIRG1base_AF033033.2:g.2418A>T + AF033033.2:g.2418A>T chr11 67565431 67565432 TCIRG1base_AF033033.2:g.2415G>A + AF033033.2:g.2415G>A chr11 67567541 67567542 TCIRG1base_AF033033.2:g.4525T>C + AF033033.2:g.4525T>C chr11 67567407 67567408 TCIRG1base_AF033033.2:g.4391C>A + AF033033.2:g.4391C>A chr11 67567653 67567654 TCIRG1base_AF033033.2:g.4637G>A + AF033033.2:g.4637G>A chr11 67567670 67567671 TCIRG1base_AF033033.2:g.4654C>T + AF033033.2:g.4654C>T chr11 67567696 67567697 TCIRG1base_AF033033.2:g.4680G>T + AF033033.2:g.4680G>T chr11 67574665 67574669 TCIRG1base_AF033033.2:g.11647_11650delGGAG + AF033033.2:g.11647_11650delGGAG chr11 67573122 67573123 TCIRG1base_AF033033.2:g.10106G>A + AF033033.2:g.10106G>A chr11 67569093 67569094 TCIRG1base_AF033033.2:g.6078C>T + AF033033.2:g.6078C>T chr11 67571775 67571776 TCIRG1base_AF033033.2:g.8759C>A + AF033033.2:g.8759C>A chr11 67568288 67568289 TCIRG1base_AF033033.2:g.5272delC + AF033033.2:g.5272delC chr11 67568336 67568338 TCIRG1base_AF033033.2:g.5320_5321insG + AF033033.2:g.5320_5321insG chr11 67569003 67569004 TCIRG1base_AF033033.2:g.5988G>T + AF033033.2:g.5988G>T chr11 67571479 67571481 TCIRG1base_AF033033.2:g.8463_8464insA + AF033033.2:g.8463_8464insA chr11 67571606 67571607 TCIRG1base_AF033033.2:g.8590C>T + AF033033.2:g.8590C>T chr11 67571765 67571768 TCIRG1base_AF033033.2:g.8749_8751delACA + AF033033.2:g.8749_8751delACA chr11 67571821 67571823 TCIRG1base_AF033033.2:g.8805_8806delGC + AF033033.2:g.8805_8806delGC chr11 67572016 67572017 TCIRG1base_AF033033.2:g.9000T>A + AF033033.2:g.9000T>A chr11 67573996 67573997 TCIRG1base_AF033033.2:g.10978T>C + AF033033.2:g.10978T>C chr11 67574620 67574629 TCIRG1base_AF033033.2:g.11602_11610delCTTTGCCGC + AF033033.2:g.11602_11610delCTTTGCCGC chr11 67573236 67573237 TCIRG1base_AF033033.2:g.10220G>A + AF033033.2:g.10220G>A chr11 67573825 67573826 TCIRG1base_AF033033.2:g.10809C>T + AF033033.2:g.10809C>T chr11 67573044 67573045 TCIRG1base_AF033033.2:g.10028G>A + AF033033.2:g.10028G>A chr11 67574104 67574179 TCIRG1base_AF033033.2:g.11086_11160del + AF033033.2:g.11086_11160del chr11 67574297 67574298 TCIRG1base_AF033033.2:g.11279G>A + AF033033.2:g.11279G>A chr11 67574616 67574617 TCIRG1base_AF033033.2:g.11598C>G + AF033033.2:g.11598C>G chr11 67574783 67574784 TCIRG1base_AF033033.2:g.11765G>A + AF033033.2:g.11765G>A chr17 7518929 7518930 TP53_g.13404G>C - X54156.1(TP53):g.13404G>C chr22 29331518 29331519 TCN2base_D0088:g.60260delC + D0088:g.60260delC chr22 29333542 29333543 TCN2base_D0088:g.62284delA + D0088:g.62284delA chr22 29343511 29343512 TCN2base_D0088:g.72253T>G + D0088:g.72253T>G chr22 29336314 29336318 TCN2base_D0088:g.65056_65059delTCTG + D0088:g.65056_65059delTCTG chr22 29333584 29333585 TCN2base_D0088:g.62326T>G + D0088:g.62326T>G chr4 187378896 187378897 TLR3base_D0124:g.14440T>C + D0124:g.14440T>C chr4 187379648 187379649 TLR3base_D0124:g.15192C>T + D0124:g.15192C>T chr17 73633551 73633552 TMC6base_D0030:g.7532C>T - D0030:g.7532C>T chr17 73632346 73632347 TMC6base_D0030:g.8737C>A - D0030:g.8737C>A chr17 73631856 73631857 TMC6base_D0030:g.9227A>T - D0030:g.9227A>T chr17 73631829 73631831 TMC6base_D0030:g.9253_9254dupCATGT - D0030:g.9253_9254dupCATGT chr17 73631778 73631779 TMC6base_D0030:g.9305delT - D0030:g.9305delT chr17 73627057 73627058 TMC6base_D0030:g.14026G>T - D0030:g.14026G>T chr17 73639595 73639596 TMC8base_D0031:g.2133G>A + D0031:g.2133G>A chr17 73641110 73641133 TMC8base_D0031:g.3648_3670del + D0031:g.3648_3670del chr17 73641117 73641118 TMC8base_D0031:g.3655C>T + D0031:g.3655C>T chr17 73641614 73641615 TMC8base_D0031:g.4152delT + D0031:g.4152delT chr17 73642641 73642642 TMC8base_D0031:g.5179G>T + D0031:g.5179G>T chr17 16793017 16793019 TNFRSF13Bbase_D0105:g.24109_24110insA - D0105:g.24109_24110insA chr17 16792911 16792912 TNFRSF13Bbase_D0105:g.24216T>C - D0105:g.24216T>C chr17 16793017 16793018 TNFRSF13Bbase_D0105:g.24110dupA - D0105:g.24110dupA chr17 16792790 16792791 TNFRSF13Bbase_D0105:g.24337C>A - D0105:g.24337C>A chr17 16784453 16784454 TNFRSF13Bbase_D0105:g.32674C>A - D0105:g.32674C>A chr17 16784413 16784415 TNFRSF13Bbase_D0105:g.32713_32714delinsAA - D0105:g.32713_32714delinsAA chr17 16784390 16784391 TNFRSF13Bbase_D0105:g.32737G>A - D0105:g.32737G>A chr19 10340075 10340079 TYK2base_D0118:g.11027_11030delGCTT - D0118:g.11027_11030delGCTT chr17 71350917 71350919 UNC13Dbase_D0091:g.2475_2476delAC - D0091:g.2475_2476delAC chr17 71341768 71341772 UNC13Dbase_D0091:g.11622_11625delGGAG - D0091:g.11622_11625delGGAG chr17 71350881 71350882 UNC13Dbase_D0091:g.2512delC - D0091:g.2512delC chr17 71348493 71348494 UNC13Dbase_D0091:g.4900delT - D0091:g.4900delT chr17 71348480 71348481 UNC13Dbase_D0091:g.4913C>T - D0091:g.4913C>T chr17 71343529 71343530 UNC13Dbase_D0091:g.9864G>C - D0091:g.9864G>C chr17 71348181 71348182 UNC13Dbase_D0091:g.5212G>T - D0091:g.5212G>T chr17 71348289 71348290 UNC13Dbase_D0091:g.5104C>T - D0091:g.5104C>T chr17 71347992 71347993 UNC13Dbase_D0091:g.5401C>T - D0091:g.5401C>T chr17 71347941 71347942 UNC13Dbase_D0091:g.5452C>T - D0091:g.5452C>T chr17 71338290 71338291 UNC13Dbase_D0091:g.15103T>C - D0091:g.15103T>C chr17 71344337 71344338 UNC13Dbase_D0091:g.9056T>C - D0091:g.9056T>C chr17 71343179 71343180 UNC13Dbase_D0091:g.10214dupT - D0091:g.10214dupT chr17 71343099 71343111 UNC13Dbase_D0091:g.10283_10294del - D0091:g.10283_10294del chr17 71341771 71341772 UNC13Dbase_D0091:g.11622delG - D0091:g.11622delG chr17 71350103 71350104 UNC13Dbase_D0091:g.3290G>A - D0091:g.3290G>A chr17 71336482 71336483 UNC13Dbase_D0091:g.16911T>G - D0091:g.16911T>G chr17 71335720 71335721 UNC13Dbase_D0091:g.17673C>T - D0091:g.17673C>T chr17 71350599 71350600 UNC13Dbase_D0091:g.2794G>A - D0091:g.2794G>A chr17 71348005 71348006 UNC13Dbase_D0091:g.5388G>C - D0091:g.5388G>C chr17 71344013 71344014 UNC13Dbase_D0091:g.9380G>A - D0091:g.9380G>A chr17 71343582 71343583 UNC13Dbase_D0091:g.9811G>T - D0091:g.9811G>T chr11 67522404 67522405 UNC93B1base_D0122:g.6765G>A - D0122:g.6765G>A chr11 67520700 67520704 UNC93B1base_D0122:g.8466_8469delCTTT - D0122:g.8466_8469delCTTT chr12 107999765 107999766 UNGbase_D0092:g.2632delC + D0092:g.2632delC chr12 108003398 108003400 UNGbase_D0092:g.6265_6266delTA + D0092:g.6265_6266delTA chr12 107999800 107999802 UNGbase_D0092:g.2667_2668delAT + D0092:g.2667_2668delAT chr12 108004086 108004087 UNGbase_D0092:g.6953T>C + D0092:g.6953T>C chrX 48298986 48298987 WASbase_AF196970.2:g.32147G>T + AF196970.2:g.32147G>T chrX 48299016 48299017 WASbase_AF196970.2:g.32177G>C + AF196970.2:g.32177G>C chrX 48300240 48300241 WASbase_AF196970.2:g.33401delC + AF196970.2:g.33401delC chrX 48303516 48303517 WASbase_AF196970.2:g.36677delC + AF196970.2:g.36677delC chr2 97799255 97799256 ZAP70base_D0057:g.11708C>A + D0057:g.11708C>A chr2 97813065 97813066 ZAP70base_D0057:g.25518A>T + D0057:g.25518A>T chr2 97812556 97812557 ZAP70base_D0057:g.25009C>T + D0057:g.25009C>T chr2 97812764 97812777 ZAP70base_D0057:g.25217_25229del + D0057:g.25217_25229del chr2 97812774 97812775 ZAP70base_D0057:g.25227C>T + D0057:g.25227C>T chr2 97812808 97812809 ZAP70base_D0057:g.25261C>A + D0057:g.25261C>A chr2 97812964 97812965 ZAP70base_D0057:g.25417G>A + D0057:g.25417G>A chr17 7517742 7517744 TP53_g.14588_14589delinsTT - X54156.1(TP53):g.14588_14589delinsTT chr17 7519131 7519132 TP53_g.13202C>T - X54156.1(TP53):g.13202C>T chrX 135455998 135456000 CD40Lbase_D0015:g.1127_1128ins + D0015:g.1127_1128ins chr17 7520037 7520038 TP53_g.12298C>T - X54156.1(TP53):g.12298C>T chr17 7518941 7518942 TP53_g.13392C>T - X54156.1(TP53):g.13392C>T chr17 7519170 7519171 TP53_g.13163A>G - X54156.1(TP53):g.13163A>G chr17 7517867 7517868 TP53_g.14464G>T - X54156.1(TP53):g.14464G>T chr17 7519165 7519166 TP53_g.13168C>G - X54156.1(TP53):g.13168C>G chr17 7517881 7517882 TP53_g.14450A>T - X54156.1(TP53):g.14450A>T chr17 7518235 7518236 TP53_g.14097T>A - X54156.1(TP53):g.14097T>A chr17 7519099 7519100 TP53_g.13234C>G - X54156.1(TP53):g.13234C>G chr17 7518956 7518957 TP53_g.13377T>A - X54156.1(TP53):g.13377T>A chr17 7518223 7518224 TP53_g.14109G>T - X54156.1(TP53):g.14109G>T chr17 7517752 7517753 TP53_g.14579A>T - X54156.1(TP53):g.14579A>T chr17 7517742 7517743 TP53_g.14589G>A - X54156.1(TP53):g.14589G>A chr17 7518317 7518319 TP53_g.14014_14015ins3 - X54156.1(TP53):g.14014_14015ins3 chr17 7519234 7519235 TP53_g.13099C>T - X54156.1(TP53):g.13099C>T chr17 7519171 7519172 TP53_g.13162del - X54156.1(TP53):g.13162del chr17 7519135 7519136 TP53_g.13198G>A - X54156.1(TP53):g.13198G>A chr17 7518986 7518987 TP53_g.13347G>A - X54156.1(TP53):g.13347G>A chr17 7519130 7519131 TP53_g.13203G>T - X54156.1(TP53):g.13203G>T chr17 7518302 7518324 TP53_g.14009_14030del - X54156.1(TP53):g.14009_14030del chr17 7519108 7519109 TP53_g.13225C>A - X54156.1(TP53):g.13225C>A chr17 7518257 7518258 TP53_g.14075C>T - X54156.1(TP53):g.14075C>T chr17 7517788 7517790 TP53_g.14542_14543ins1 - X54156.1(TP53):g.14542_14543ins1 chr17 7519203 7519205 TP53_g.13129_13130ins4 - X54156.1(TP53):g.13129_13130ins4 chr17 7519183 7519192 TP53_g.13142_13150del - X54156.1(TP53):g.13142_13150del chr17 7518267 7518268 TP53_g.14065G>A - X54156.1(TP53):g.14065G>A chr17 7520064 7520065 TP53_g.12271C>G - X54156.1(TP53):g.12271C>G chr17 7518310 7518311 TP53_g.14022T>A - X54156.1(TP53):g.14022T>A chr17 7519262 7519263 TP53_g.13071A>T - X54156.1(TP53):g.13071A>T chr17 7519151 7519152 TP53_g.13182A>G - X54156.1(TP53):g.13182A>G chr17 7518233 7518234 TP53_g.14099G>T - X54156.1(TP53):g.14099G>T chr17 7519261 7519262 TP53_g.13072C>G - X54156.1(TP53):g.13072C>G chr17 7517782 7517783 TP53_g.14549del - X54156.1(TP53):g.14549del chr17 7517809 7517810 TP53_g.14522G>C - X54156.1(TP53):g.14522G>C chr17 7519173 7519174 TP53_g.13160G>A - X54156.1(TP53):g.13160G>A chr17 7519112 7519113 TP53_g.13221G>A - X54156.1(TP53):g.13221G>A chr17 7517830 7517831 TP53_g.14501C>A - X54156.1(TP53):g.14501C>A chr17 7518261 7518263 TP53_g.14070_14071delinsAA - X54156.1(TP53):g.14070_14071delinsAA chr17 7519203 7519205 TP53_g.13129_13130ins1 - X54156.1(TP53):g.13129_13130ins1 chr17 7518995 7518996 TP53_g.13338A>G - X54156.1(TP53):g.13338A>G chr17 7519117 7519118 TP53_g.13216T>C - X54156.1(TP53):g.13216T>C chr17 7518233 7518234 TP53_g.14099G>C - X54156.1(TP53):g.14099G>C chr17 7518224 7518225 TP53_g.14108A>C - X54156.1(TP53):g.14108A>C chr17 7517862 7517863 TP53_g.14469G>A - X54156.1(TP53):g.14469G>A chr17 7520133 7520186 TP53_g.12150_12202del - X54156.1(TP53):g.12150_12202del chr17 7514657 7514658 TP53_g.17672A>G - X54156.1(TP53):g.17672A>G chr17 7518326 7518327 TP53_g.14006T>A - X54156.1(TP53):g.14006T>A chr17 7517815 7517816 TP53_g.14516del - X54156.1(TP53):g.14516del chr17 7517829 7517830 TP53_g.14502C>G - X54156.1(TP53):g.14502C>G chr17 7518917 7518919 TP53_g.13415_13416del - X54156.1(TP53):g.13415_13416del chr17 7519161 7519162 TP53_g.13172C>T - X54156.1(TP53):g.13172C>T chr17 7518308 7518309 TP53_g.14024del - X54156.1(TP53):g.14024del chr17 7518269 7518270 TP53_g.14063A>T - X54156.1(TP53):g.14063A>T chr17 7517782 7517783 TP53_g.14549G>A - X54156.1(TP53):g.14549G>A chr17 7517596 7517597 TP53_g.14735G>C - X54156.1(TP53):g.14735G>C chr17 7519186 7519187 TP53_g.13147C>G - X54156.1(TP53):g.13147C>G chr17 7518910 7518911 TP53_g.13423G>A - X54156.1(TP53):g.13423G>A chr17 7518301 7518309 TP53_g.14024_14031del - X54156.1(TP53):g.14024_14031del chr17 7518900 7518901 TP53_g.13433G>A - X54156.1(TP53):g.13433G>A chr17 7514694 7514695 TP53_g.17635G>A - X54156.1(TP53):g.17635G>A chr17 7518964 7518965 TP53_g.13369G>A - X54156.1(TP53):g.13369G>A chr17 7518985 7518986 TP53_g.13348A>G - X54156.1(TP53):g.13348A>G chr17 7517848 7517849 TP53_g.14483G>T - X54156.1(TP53):g.14483G>T chr17 7517649 7517650 TP53_g.14682A>T - X54156.1(TP53):g.14682A>T chr17 7518288 7518289 TP53_g.14044C>T - X54156.1(TP53):g.14044C>T chr17 7518251 7518252 TP53_g.14081C>T - X54156.1(TP53):g.14081C>T chr17 7519177 7519178 TP53_g.13156C>T - X54156.1(TP53):g.13156C>T chr17 7519236 7519237 TP53_g.13097A>G - X54156.1(TP53):g.13097A>G chr12 101743096 101743097 PAH_c.969+43G>T - U49897.1(PAH):c.969+43G>T chr12 101740541 101740542 PAH_c.1065+39G>T - U49897.1(PAH):c.1065+39G>T chr17 7519009 7519010 TP53_g.13324G>A - X54156.1(TP53):g.13324G>A chr17 7518228 7518229 TP53_g.14104C>T - X54156.1(TP53):g.14104C>T chr17 7519120 7519121 TP53_g.13213C>T - X54156.1(TP53):g.13213C>T chr17 7519229 7519230 TP53_g.13104C>T - X54156.1(TP53):g.13104C>T chr17 7520151 7520152 TP53_g.12184C>A - X54156.1(TP53):g.12184C>A chr17 7517825 7517827 TP53_g.14505_14506delinsTA - X54156.1(TP53):g.14505_14506delinsTA chr17 7517793 7517794 TP53_g.14538G>A - X54156.1(TP53):g.14538G>A chr17 7519104 7519105 TP53_g.13229G>C - X54156.1(TP53):g.13229G>C chr17 7518901 7518922 TP53_g.13412_13432del - X54156.1(TP53):g.13412_13432del chr17 7519182 7519183 TP53_g.13151C>T - X54156.1(TP53):g.13151C>T chr17 7520072 7520073 TP53_g.12263C>G - X54156.1(TP53):g.12263C>G chr17 7519278 7519279 TP53_g.13055T>C - X54156.1(TP53):g.13055T>C chr17 7519200 7519201 TP53_g.13133C>T - X54156.1(TP53):g.13133C>T chr17 7518259 7518260 TP53_g.14073G>T - X54156.1(TP53):g.14073G>T chr17 7519241 7519242 TP53_g.13092C>T - X54156.1(TP53):g.13092C>T chr17 7519160 7519161 TP53_g.13173A>G - X54156.1(TP53):g.13173A>G chr17 7519192 7519193 TP53_g.13141C>T - X54156.1(TP53):g.13141C>T chr17 7518244 7518245 TP53_g.14088T>C - X54156.1(TP53):g.14088T>C chr17 7518254 7518255 TP53_g.14078A>C - X54156.1(TP53):g.14078A>C chr17 7518323 7518324 TP53_g.14009G>C - X54156.1(TP53):g.14009G>C chr17 7519249 7519250 TP53_g.13084C>T - X54156.1(TP53):g.13084C>T chr17 7518332 7518333 TP53_g.14000G>A - X54156.1(TP53):g.14000G>A chr17 7519249 7519250 TP53_g.13084C>G - X54156.1(TP53):g.13084C>G chr17 7519239 7519240 TP53_g.13094A>G - X54156.1(TP53):g.13094A>G chr17 7519209 7519211 TP53_g.13123_13124ins1 - X54156.1(TP53):g.13123_13124ins1 chr17 7518232 7518233 TP53_g.14100A>T - X54156.1(TP53):g.14100A>T chr17 7517841 7517842 TP53_g.14490T>A - X54156.1(TP53):g.14490T>A chr17 7517789 7517790 TP53_g.14542G>C - X54156.1(TP53):g.14542G>C chr17 7519291 7519292 TP53_g.13042C>T - X54156.1(TP53):g.13042C>T chr17 7517817 7517818 TP53_g.14514G>C - X54156.1(TP53):g.14514G>C chr17 7517788 7517789 TP53_g.14543A>G - X54156.1(TP53):g.14543A>G chr17 7520143 7520156 TP53_g.12180_12192del - X54156.1(TP53):g.12180_12192del chr17 7518903 7518905 TP53_g.13429_13430ins6 - X54156.1(TP53):g.13429_13430ins6 chr17 7518328 7518330 TP53_g.14003_14004del - X54156.1(TP53):g.14003_14004del chr17 7518932 7518933 TP53_g.13401A>G - X54156.1(TP53):g.13401A>G chr17 7518267 7518268 TP53_g.14065G>T - X54156.1(TP53):g.14065G>T chr17 7519248 7519249 TP53_g.13085C>T - X54156.1(TP53):g.13085C>T chr17 7518961 7518962 TP53_g.13372G>A - X54156.1(TP53):g.13372G>A chr17 7519152 7519153 TP53_g.13181del - X54156.1(TP53):g.13181del chr17 7513656 7513675 TP53_g.18657_18675del - X54156.1(TP53):g.18657_18675del chr17 7514736 7514738 TP53_g.17592_17593ins5 - X54156.1(TP53):g.17592_17593ins5 chr17 7519193 7519194 TP53_g.13140G>T - X54156.1(TP53):g.13140G>T chr17 7518989 7518994 TP53_g.13340_13344del - X54156.1(TP53):g.13340_13344del chr17 7519217 7519218 TP53_g.13116G>C - X54156.1(TP53):g.13116G>C chr17 7519106 7519107 TP53_g.13227C>G - X54156.1(TP53):g.13227C>G chr17 7519157 7519158 TP53_g.13176C>G - X54156.1(TP53):g.13176C>G chr17 7520081 7520102 TP53_g.12234_12254del - X54156.1(TP53):g.12234_12254del chr17 7519237 7519238 TP53_g.13096G>C - X54156.1(TP53):g.13096G>C chr17 7518996 7518999 TP53_g.13335_13337del - X54156.1(TP53):g.13335_13337del chr17 7519108 7519109 TP53_g.13225C>T - X54156.1(TP53):g.13225C>T chr17 7518296 7518297 TP53_g.14036A>G - X54156.1(TP53):g.14036A>G chr17 7518230 7518231 TP53_g.14102G>A - X54156.1(TP53):g.14102G>A chr17 7517725 7517726 TP53_g.14606G>C - X54156.1(TP53):g.14606G>C chr17 7518997 7518999 TP53_g.13335_13336del - X54156.1(TP53):g.13335_13336del chr17 7517862 7517864 TP53_g.14468_14469ins2 - X54156.1(TP53):g.14468_14469ins2 chr17 7518280 7518281 TP53_g.14052G>T - X54156.1(TP53):g.14052G>T chr17 7519104 7519105 TP53_g.13229G>T - X54156.1(TP53):g.13229G>T chr17 7517800 7517801 TP53_g.14531A>G - X54156.1(TP53):g.14531A>G chr17 7518260 7518261 TP53_g.14072A>T - X54156.1(TP53):g.14072A>T chr17 7517872 7517873 TP53_g.14459C>T - X54156.1(TP53):g.14459C>T chr17 7518258 7518259 TP53_g.14074G>T - X54156.1(TP53):g.14074G>T chr17 7517850 7517851 TP53_g.14481A>T - X54156.1(TP53):g.14481A>T chr17 7517805 7517806 TP53_g.14526A>G - X54156.1(TP53):g.14526A>G chr17 7517781 7517782 TP53_g.14550A>G - X54156.1(TP53):g.14550A>G chr17 7517595 7517598 TP53_g.14734_14736delins11 - X54156.1(TP53):g.14734_14736delins11 chr17 7518301 7518302 TP53_g.14031A>G - X54156.1(TP53):g.14031A>G chr17 7518270 7518271 TP53_g.14062C>A - X54156.1(TP53):g.14062C>A chr17 7517827 7517828 TP53_g.14504G>A - X54156.1(TP53):g.14504G>A chr17 7518259 7518260 TP53_g.14073G>A - X54156.1(TP53):g.14073G>A chr17 7514720 7514721 TP53_g.17609T>G - X54156.1(TP53):g.17609T>G chr17 7519013 7519014 TP53_g.13320G>A - X54156.1(TP53):g.13320G>A chr17 7517859 7517861 TP53_g.14471_14472delinsTT - X54156.1(TP53):g.14471_14472delinsTT chr17 7517857 7517858 TP53_g.14474A>T - X54156.1(TP53):g.14474A>T chr17 7519179 7519180 TP53_g.13154G>T - X54156.1(TP53):g.13154G>T chr17 7518282 7518284 TP53_g.14049_14050delinsTT - X54156.1(TP53):g.14049_14050delinsTT chr17 7519173 7519175 TP53_g.13159_13160ins1 - X54156.1(TP53):g.13159_13160ins1 chr17 7517831 7517832 TP53_g.14500T>G - X54156.1(TP53):g.14500T>G chr17 7519179 7519180 TP53_g.13154del - X54156.1(TP53):g.13154del chr17 7520201 7520202 TP53_g.12134T>G - X54156.1(TP53):g.12134T>G chr17 7514685 7514686 TP53_g.17644del - X54156.1(TP53):g.17644del chr17 7519185 7519186 TP53_g.13148G>C - X54156.1(TP53):g.13148G>C chr17 7518286 7518287 TP53_g.14046G>T - X54156.1(TP53):g.14046G>T chr17 7517867 7517868 TP53_g.14464G>C - X54156.1(TP53):g.14464G>C chr3 123455727 123455728 CASRdb_c.2T>G + CASR:c.2T>G chr3 123455744 123455746 CASRdb_c.19_20insT + CASR:c.19_20insT chr3 123455757 123455758 CASRdb_c.32T>C + CASR:c.32T>C chr3 123455763 123455764 CASRdb_c.38T>C + CASR:c.38T>C chr3 123455765 123455766 CASRdb_c.40A>G + CASR:c.40A>G chr3 123455798 123455799 CASRdb_c.73C>T + CASR:c.73C>T chr3 123455805 123455806 CASRdb_c.80A>G + CASR:c.80A>G chr3 123455810 123455811 CASRdb_c.85A>G + CASR:c.85A>G chr3 123455840 123455841 CASRdb_c.115C>G + CASR:c.115C>G chr3 123455866 123455867 CASRdb_c.141A>C + CASR:c.141A>C chr3 123455882 123455883 CASRdb_c.157T>C + CASR:c.157T>C chr3 123455889 123455890 CASRdb_c.164C>T + CASR:c.164C>T chr3 123455910 123455911 CASRdb_c.185G>T + CASR:c.185G>T chr3 123458616 123458617 CASRdb_c.186-1G>T + CASR:c.186-1G>T chr3 123458627 123458628 CASRdb_c.196C>T + CASR:c.196C>T chr3 123463373 123463384 CASRdb_c.802_812del + CASR:c.802_812del chr3 123458711 123458712 CASRdb_c.280G>T + CASR:c.280G>T chr3 123458777 123458778 CASRdb_c.346G>A + CASR:c.346G>A chr3 123458785 123458786 CASRdb_c.354C>A + CASR:c.354C>A chr3 123458785 123458786 CASRdb_c.354C>G + CASR:c.354C>G chr3 123458803 123458804 CASRdb_c.372C>A + CASR:c.372C>A chr3 123458805 123458806 CASRdb_c.374T>C + CASR:c.374T>C chr3 123458810 123458811 CASRdb_c.379G>A + CASR:c.379G>A chr3 123458811 123458812 CASRdb_c.380A>C + CASR:c.380A>C chr3 123458813 123458814 CASRdb_c.382T>C + CASR:c.382T>C chr3 123458816 123458817 CASRdb_c.385T>A + CASR:c.385T>A chr3 123458817 123458818 CASRdb_c.386G>A + CASR:c.386G>A chr3 123458823 123458824 CASRdb_c.392G>T + CASR:c.392G>T chr3 123458824 123458825 CASRdb_c.393C>G + CASR:c.393C>G chr3 123458840 123458841 CASRdb_c.409T>C + CASR:c.409T>C chr3 123458844 123458845 CASRdb_c.413C>T + CASR:c.413C>T chr3 123458859 123458860 CASRdb_c.428G>A + CASR:c.428G>A chr3 123458883 123458884 CASRdb_c.452C>T + CASR:c.452C>T chr3 123458883 123458884 CASRdb_c.452C>G + CASR:c.452C>G chr3 123458907 123458908 CASRdb_c.476T>C + CASR:c.476T>C chr3 123458913 123458914 CASRdb_c.482A>G + CASR:c.482A>G chr3 123463089 123463090 CASRdb_c.518T>C + CASR:c.518T>C chr3 123463092 123463093 CASRdb_c.521T>G + CASR:c.521T>G chr3 123463103 123463104 CASRdb_c.532A>G + CASR:c.532A>G chr3 123463124 123463125 CASRdb_c.553C>T + CASR:c.553C>T chr3 123463125 123463126 CASRdb_c.554G>A + CASR:c.554G>A chr3 123463142 123463143 CASRdb_c.571G>A + CASR:c.571G>A chr3 123463206 123463207 CASRdb_c.635T>C + CASR:c.635T>C chr3 123463215 123463216 CASRdb_c.644A>G + CASR:c.644A>G chr3 123463224 123463225 CASRdb_c.653A>C + CASR:c.653A>C chr3 123463224 123463225 CASRdb_c.653A>G + CASR:c.653A>G chr3 123463229 123463230 CASRdb_c.658C>T + CASR:c.658C>T chr3 123463230 123463231 CASRdb_c.659G>A + CASR:c.659G>A chr3 123463232 123463233 CASRdb_c.661C>T + CASR:c.661C>T chr3 123463233 123463234 CASRdb_c.662C>T + CASR:c.662C>T chr3 123463251 123463252 CASRdb_c.680G>A + CASR:c.680G>A chr3 123463251 123463252 CASRdb_c.680G>T + CASR:c.680G>T chr3 123463253 123463254 CASRdb_c.682G>C + CASR:c.682G>C chr3 123463305 123463306 CASRdb_c.734A>G + CASR:c.734A>G chr3 123463460 123463461 CASRdb_c.889G>A + CASR:c.889G>A chr3 123463462 123463463 CASRdb_c.891G>C + CASR:c.891G>C chr3 123486172 123486715 CASRdb_c.2682_3224del + CASR:c.2682_3224del chr3 123463538 123463539 CASRdb_c.967A>T + CASR:c.967A>T chr3 123463577 123463580 CASRdb_c.1006_1008delAAG + CASR:c.1006_1008delAAG chr3 123463754 123463755 CASRdb_c.1183T>C + CASR:c.1183T>C chr3 123477364 123477365 CASRdb_c.1394G>A + CASR:c.1394G>A chr3 123483561 123483562 CASRdb_c.1609-88T>C + CASR:c.1609-88T>C chr3 123483685 123483686 CASRdb_c.1645G>A + CASR:c.1645G>A chr3 123483710 123483711 CASRdb_c.1670G>A + CASR:c.1670G>A chr3 123483725 123483726 CASRdb_c.1685G>C + CASR:c.1685G>C chr3 123485235 123485236 CASRdb_c.1745G>A + CASR:c.1745G>A chr3 123485255 123485256 CASRdb_c.1765T>C + CASR:c.1765T>C chr3 123485300 123485301 CASRdb_c.1810G>A + CASR:c.1810G>A chr3 123485310 123485311 CASRdb_c.1820C>A + CASR:c.1820C>A chr3 123485325 123485326 CASRdb_c.1835T>C + CASR:c.1835T>C chr3 123485336 123485337 CASRdb_c.1846C>G + CASR:c.1846C>G chr3 123485403 123485404 CASRdb_c.1913G>T + CASR:c.1913G>T chr3 123485432 123485433 CASRdb_c.1942C>T + CASR:c.1942C>T chr3 123485439 123485440 CASRdb_c.1949T>C + CASR:c.1949T>C chr3 123485460 123485461 CASRdb_c.1970C>A + CASR:c.1970C>A chr3 123485498 123485499 CASRdb_c.2008G>A + CASR:c.2008G>A chr3 123485499 123485500 CASRdb_c.2009G>A + CASR:c.2009G>A chr3 123485520 123485521 CASRdb_c.2030G>A + CASR:c.2030G>A chr3 123485528 123485529 CASRdb_c.2038C>T + CASR:c.2038C>T chr3 123485529 123485530 CASRdb_c.2039G>A + CASR:c.2039G>A chr3 123485533 123485534 CASRdb_c.2043G>T + CASR:c.2043G>T chr3 123485644 123485645 CASRdb_c.2154G>A + CASR:c.2154G>A chr3 123485670 123485671 CASRdb_c.2180T>A + CASR:c.2180T>A chr3 123485730 123485732 CASRdb_c.2240_2241delCCinsT + CASR:c.2240_2241delCCinsT chr3 123485733 123485734 CASRdb_c.2243C>G + CASR:c.2243C>G chr3 123485734 123485735 CASRdb_c.2244C>G + CASR:c.2244C>G chr3 123485789 123485790 CASRdb_c.2299G>A + CASR:c.2299G>A chr3 123485808 123485809 CASRdb_c.2318T>G + CASR:c.2318T>G chr3 123485823 123485824 CASRdb_c.2333G>A + CASR:c.2333G>A chr3 123485852 123485853 CASRdb_c.2362T>C + CASR:c.2362T>C chr3 123485853 123485854 CASRdb_c.2363T>G + CASR:c.2363T>G chr3 123485863 123485864 CASRdb_c.2373C>G + CASR:c.2373C>G chr3 123485873 123485874 CASRdb_c.2383C>T + CASR:c.2383C>T chr3 123485882 123485883 CASRdb_c.2392C>A + CASR:c.2392C>A chr3 123485885 123485886 CASRdb_c.2395G>A + CASR:c.2395G>A chr3 123485901 123485902 CASRdb_c.2411C>A + CASR:c.2411C>A chr3 123485907 123485908 CASRdb_c.2417T>C + CASR:c.2417T>C chr3 123485917 123485918 CASRdb_c.2427C>G + CASR:c.2427C>G chr3 123485939 123485940 CASRdb_c.2449G>A + CASR:c.2449G>A chr3 123485949 123485950 CASRdb_c.2459C>G + CASR:c.2459C>G chr3 123485949 123485950 CASRdb_c.2459C>T + CASR:c.2459C>T chr3 123485951 123485952 CASRdb_c.2461T>C + CASR:c.2461T>C chr3 123485960 123485961 CASRdb_c.2470G>T + CASR:c.2470G>T chr3 123485960 123485961 CASRdb_c.2470G>A + CASR:c.2470G>A chr3 123485966 123485967 CASRdb_c.2476G>A + CASR:c.2476G>A chr3 123485985 123485986 CASRdb_c.2495T>G + CASR:c.2495T>G chr3 123485993 123485994 CASRdb_c.2503G>A + CASR:c.2503G>A chr3 123485996 123485997 CASRdb_c.2506G>C + CASR:c.2506G>C chr3 123486018 123486019 CASRdb_c.2528C>A + CASR:c.2528C>A chr3 123486040 123486042 CASRdb_c.2550_2551insCCAG + CASR:c.2550_2551insCCAG chr3 123486041 123486042 CASRdb_c.2551T>A + CASR:c.2551T>A chr3 123486042 123486043 CASRdb_c.2552G>C + CASR:c.2552G>C chr3 123486117 123486119 CASRdb_c.2627_2628insAlu + CASR:c.2627_2628insAlu chr3 123486131 123486132 CASRdb_c.2641T>C + CASR:c.2641T>C chr3 123486147 123486148 CASRdb_c.2657G>C + CASR:c.2657G>C chr3 123486181 123486183 CASRdb_c.2691_2692insG + CASR:c.2691_2692insG chr3 123486267 123486268 CASRdb_c.2777A>G + CASR:c.2777A>G chr3 123486446 123486447 CASRdb_c.2956G>T + CASR:c.2956G>T chr3 123486458 123486459 CASRdb_c.2968A>G + CASR:c.2968A>G chr3 123486470 123486471 CASRdb_c.2980C>T + CASR:c.2980C>T chr3 123486503 123486504 CASRdb_c.3013G>A + CASR:c.3013G>A chr3 123486521 123486522 CASRdb_c.3031C>G + CASR:c.3031C>G chr21 43365352 43365354 CBS_c.19_20insC - NM_000071.1(CBS):c.19_20insC chr21 43365344 43365345 CBS_c.28delG - NM_000071.1(CBS):c.28delG chr21 43365226 43365227 CBS_c.146C>T - NM_000071.1(CBS):c.146C>T chr21 43365163 43365220 CBS_c.153_209del - NM_000071.1(CBS):c.153_209del chr21 43365200 43365201 CBS_c.172C>T - NM_000071.1(CBS):c.172C>T chr21 43365178 43365179 CBS_c.194A>G - NM_000071.1(CBS):c.194A>G chr21 43365162 43365163 CBS_g.9152G>A - AF042836.1:g.9152G>A chr21 43365161 43365163 CBS_g.9152_9153ins - AF042836.1:g.9152_9153ins chr21 43361794 43361795 CBS_g.12518G>C - AF042836.1:g.12518G>C chr21 43361770 43361771 CBS_c.233C>G - NM_000071.1(CBS):c.233C>G chr21 43361750 43361751 CBS_c.253G>A - NM_000071.1(CBS):c.253G>A chr21 43361743 43361744 CBS_c.260C>A - NM_000071.1(CBS):c.260C>A chr21 43361741 43361742 CBS_c.262C>T - NM_000071.1(CBS):c.262C>T chr21 43361701 43361702 CBS_c.302T>C - NM_000071.1(CBS):c.302T>C chr21 43361699 43361700 CBS_c.304A>C - NM_000071.1(CBS):c.304A>C chr21 43361697 43361698 CBS_c.306G>C - NM_000071.1(CBS):c.306G>C chr21 43361690 43361691 CBS_c.313C>G - NM_000071.1(CBS):c.313C>G chr21 43359547 43359548 CBS_c.325T>C - NM_000071.1(CBS):c.325T>C chr21 43359531 43359532 CBS_c.341C>T - NM_000071.1(CBS):c.341C>T chr21 43359526 43359527 CBS_c.346G>A - NM_000071.1(CBS):c.346G>A chr21 43359511 43359512 CBS_c.361C>T - NM_000071.1(CBS):c.361C>T chr21 43359510 43359511 CBS_c.362G>T - NM_000071.1(CBS):c.362G>T chr21 43359510 43359511 CBS_c.362G>A - NM_000071.1(CBS):c.362G>A chr21 43359499 43359500 CBS_c.373C>T - NM_000071.1(CBS):c.373C>T chr21 43359498 43359499 CBS_c.374G>C - NM_000071.1(CBS):c.374G>C chr21 43359498 43359499 CBS_c.374G>A - NM_000071.1(CBS):c.374G>A chr21 43359496 43359497 CBS_c.376A>G - NM_000071.1(CBS):c.376A>G chr21 43359488 43359489 CBS_c.384G>C - NM_000071.1(CBS):c.384G>C chr21 43359479 43359480 CBS_c.393G>C - NM_000071.1(CBS):c.393G>C chr21 43359457 43359458 CBS_c.415G>A - NM_000071.1(CBS):c.415G>A chr21 43359443 43359444 CBS_c.429C>G - NM_000071.1(CBS):c.429C>G chr21 43359442 43359443 CBS_c.430G>A - NM_000071.1(CBS):c.430G>A chr21 43359438 43359439 CBS_c.434C>T - NM_000071.1(CBS):c.434C>T chr21 43359430 43359431 CBS_c.442G>A - NM_000071.1(CBS):c.442G>A chr21 43359421 43359422 CBS_c.451G>A - NM_000071.1(CBS):c.451G>A chr21 43358794 43358874 CBS_c.452_531del - NM_000071.1(CBS):c.452_531del chr21 43358869 43358870 CBS_c.456C>G - NM_000071.1(CBS):c.456C>G chr21 43358862 43358863 CBS_c.463G>A - NM_000071.1(CBS):c.463G>A chr21 43358811 43358833 CBS_c.493_514del - NM_000071.1(CBS):c.493_514del chr21 43358831 43358832 CBS_c.494G>A - NM_000071.1(CBS):c.494G>A chr21 43358823 43358824 CBS_c.502G>A - NM_000071.1(CBS):c.502G>A chr21 43358799 43358800 CBS_c.526G>A - NM_000071.1(CBS):c.526G>A chr21 43358793 43358794 CBS_g.15521G>A - AF042836.1:g.15521G>A chr21 43358702 43358730 CBS_g.15585_15613del - AF042836.1:g.15585_15613del chr21 43358565 43358700 CBS_c.532_666del - NM_000071.1(CBS):c.532_666del chr21 43358681 43358699 CBS_c.533_550del - NM_000071.1(CBS):c.533_550del chr21 43358692 43358693 CBS_c.539T>C - NM_000071.1(CBS):c.539T>C chr21 43358659 43358660 CBS_c.572C>T - NM_000071.1(CBS):c.572C>T chr21 43358638 43358639 CBS_c.593A>T - NM_000071.1(CBS):c.593A>T chr21 43358446 43358447 CBS_c.671G>A - NM_000071.1(CBS):c.671G>A chr21 43358441 43358442 CBS_c.676G>A - NM_000071.1(CBS):c.676G>A chr21 43358434 43358435 CBS_c.683A>G - NM_000071.1(CBS):c.683A>G chr21 43358433 43358434 CBS_c.684C>G - NM_000071.1(CBS):c.684C>G chr21 43358433 43358434 CBS_c.684C>A - NM_000071.1(CBS):c.684C>A chr21 43358426 43358427 CBS_c.691G>C - NM_000071.1(CBS):c.691G>C chr21 43358417 43358418 CBS_c.700G>A - NM_000071.1(CBS):c.700G>A chr21 43358402 43358403 CBS_c.715G>A - NM_000071.1(CBS):c.715G>A chr21 43358390 43358391 CBS_c.727C>T - NM_000071.1(CBS):c.727C>T chr21 43357170 43357171 CBS_g.17146G>C - AF042836.1:g.17146G>C chr21 43357138 43357168 CBS_c.739_768del - NM_000071.1(CBS):c.739_768del chr21 43357142 43357167 CBS_c.740_764del - NM_000071.1(CBS):c.740_764del chr21 43357136 43357137 CBS_c.770C>T - NM_000071.1(CBS):c.770C>T chr21 43357131 43357132 CBS_c.775G>A - NM_000071.1(CBS):c.775G>A chr21 43357121 43357122 CBS_c.785C>T - NM_000071.1(CBS):c.785C>T chr21 43357121 43357122 CBS_c.785C>G - NM_000071.1(CBS):c.785C>G chr21 43357110 43357111 CBS_c.796A>G - NM_000071.1(CBS):c.796A>G chr21 43357109 43357110 CBS_c.797G>A - NM_000071.1(CBS):c.797G>A chr21 43357096 43357099 CBS_c.808_810del - NM_000071.1(CBS):c.808_810del chr21 43357082 43357083 CBS_c.824G>A - NM_000071.1(CBS):c.824G>A chr21 43357077 43357078 CBS_g.17239G>A - AF042836.1:g.17239G>A chr21 43356252 43356253 CBS_c.833T>C - NM_000071.1(CBS):c.833T>C chr21 43356223 43356224 CBS_c.862G>A - NM_000071.1(CBS):c.862G>A chr21 43356216 43356217 CBS_c.869C>T - NM_000071.1(CBS):c.869C>T chr21 43356181 43356182 CBS_c.904G>A - NM_000071.1(CBS):c.904G>A chr21 43356172 43356173 CBS_c.913G>A - NM_000071.1(CBS):c.913G>A chr21 43356166 43356167 CBS_c.919G>A - NM_000071.1(CBS):c.919G>A chr21 43356130 43356131 CBS_g.18186G>A - AF042836.1:g.18186G>A chr21 43355489 43355574 CBS_c.955_1039del - NM_000071.1(CBS):c.955_1039del chr21 43355569 43355570 CBS_c.959T>C - NM_000071.1(CBS):c.959T>C chr21 43355536 43355537 CBS_c.992C>T - NM_000071.1(CBS):c.992C>T chr21 43355536 43355537 CBS_c.992C>A - NM_000071.1(CBS):c.992C>A chr21 43355522 43355523 CBS_c.1006C>T - NM_000071.1(CBS):c.1006C>T chr21 43355521 43355522 CBS_c.1007G>A - NM_000071.1(CBS):c.1007G>A chr21 43355515 43355516 CBS_c.1013T>C - NM_000071.1(CBS):c.1013T>C chr21 43355489 43355490 CBS_c.1039G>A - NM_000071.1(CBS):c.1039G>A chr21 43355488 43355489 CBS_g.18827G>T - AF042836.1:g.18827G>T chr21 43353718 43353719 CBS_c.1046G>A - NM_000071.1(CBS):c.1046G>A chr21 43353709 43353710 CBS_c.1055G>A - NM_000071.1(CBS):c.1055G>A chr21 43353706 43353707 CBS_c.1058C>T - NM_000071.1(CBS):c.1058C>T chr21 43353704 43353705 CBS_c.1060G>A - NM_000071.1(CBS):c.1060G>A chr21 43353701 43353702 CBS_c.1063G>C - NM_000071.1(CBS):c.1063G>C chr21 43353683 43353684 CBS_c.1081G>A - NM_000071.1(CBS):c.1081G>A chr21 43353659 43353660 CBS_c.1105C>T - NM_000071.1(CBS):c.1105C>T chr21 43353658 43353659 CBS_c.1106G>A - NM_000071.1(CBS):c.1106G>A chr21 43353655 43353656 CBS_c.1109G>A - NM_000071.1(CBS):c.1109G>A chr21 43353653 43353654 CBS_c.1111G>A - NM_000071.1(CBS):c.1111G>A chr21 43353638 43353639 CBS_c.1126G>A - NM_000071.1(CBS):c.1126G>A chr21 43353628 43353629 CBS_c.1136G>A - NM_000071.1(CBS):c.1136G>A chr21 43353618 43353619 CBS_g.20694G>A - AF042836.1:g.20694G>A chr21 43352404 43352482 CBS_c.1146_1223del - NM_000071.1(CBS):c.1146_1223del chr21 43352477 43352478 CBS_c.1150A>G - NM_000071.1(CBS):c.1150A>G chr21 43352475 43352476 CBS_c.1152G>C - NM_000071.1(CBS):c.1152G>C chr21 43352457 43352458 CBS_c.1170G>A - NM_000071.1(CBS):c.1170G>A chr21 43352454 43352455 CBS_c.1173G>T - NM_000071.1(CBS):c.1173G>T chr21 43352406 43352407 CBS_c.1221delC - NM_000071.1(CBS):c.1221delC chr21 43352267 43352366 CBS_g.21942_22040del - AF042836.1:g.21942_22040del chr21 43352187 43352236 CBS_g.22072_22120del - AF042836.1:g.22072_22120del chr21 43352148 43352149 CBS_g.22159A>C - AF042836.1:g.22159A>C chr21 43352144 43352145 CBS_c.1226G>A - NM_000071.1(CBS):c.1226G>A chr21 43352111 43352112 CBS_c.1259C>G - NM_000071.1(CBS):c.1259C>G chr21 43352105 43352106 CBS_c.1265C>T - NM_000071.1(CBS):c.1265C>T chr21 43352069 43352070 CBS_c.1301C>A - NM_000071.1(CBS):c.1301C>A chr21 43352066 43352067 CBS_c.1304T>C - NM_000071.1(CBS):c.1304T>C chr21 43352054 43352055 CBS_c.1316G>A - NM_000071.1(CBS):c.1316G>A chr21 43352049 43352050 CBS_c.1321A>T - NM_000071.1(CBS):c.1321A>T chr21 43352040 43352041 CBS_c.1330G>A - NM_000071.1(CBS):c.1330G>A chr21 43351323 43351432 CBS_c.1359_1467del - NM_000071.1(CBS):c.1359_1467del chr21 43351423 43351424 CBS_c.1367T>C - NM_000071.1(CBS):c.1367T>C chr21 43351393 43351394 CBS_c.1397C>T - NM_000071.1(CBS):c.1397C>T chr21 43350062 43350063 CBS_c.1471C>T - NM_000071.1(CBS):c.1471C>T chr21 43347148 43347149 CBS_c.1566delG - NM_000071.1(CBS):c.1566delG chr21 43347138 43347139 CBS_c.1576C>A - NM_000071.1(CBS):c.1576C>A chr21 43347121 43347125 CBS_c.1590_1593del - NM_000071.1(CBS):c.1590_1593del chr21 43347120 43347124 CBS_c.1591_1594del - NM_000071.1(CBS):c.1591_1594del chr21 43347113 43347114 CBS_c.1601T>A - NM_000071.1(CBS):c.1601T>A chr21 43347098 43347099 CBS_c.1616T>C - NM_000071.1(CBS):c.1616T>C chr21 43347069 43347088 CBS_c.1627_1645del - NM_000071.1(CBS):c.1627_1645del chr21 43347037 43347042 CBS_c.1673_1677del - NM_000071.1(CBS):c.1673_1677del chr17 7517849 7517850 TP53_g.14482G>A - X54156.1(TP53):g.14482G>A chr17 7517843 7517844 TP53_g.14488T>C - X54156.1(TP53):g.14488T>C chr17 7519247 7519248 TP53_g.13086A>G - X54156.1(TP53):g.13086A>G chr17 7518262 7518263 TP53_g.14070G>C - X54156.1(TP53):g.14070G>C chr17 7518992 7518993 TP53_g.13341T>G - X54156.1(TP53):g.13341T>G chr17 7518959 7518960 TP53_g.13374A>G - X54156.1(TP53):g.13374A>G chr17 7518269 7518270 TP53_g.14063A>G - X54156.1(TP53):g.14063A>G chr17 7518276 7518300 TP53_g.14033_14056del - X54156.1(TP53):g.14033_14056del chr17 7518271 7518272 TP53_g.14061G>C - X54156.1(TP53):g.14061G>C chr17 7520138 7520139 TP53_g.12197G>T - X54156.1(TP53):g.12197G>T chr17 7518242 7518243 TP53_g.14090A>T - X54156.1(TP53):g.14090A>T chr17 7519164 7519165 TP53_g.13169A>T - X54156.1(TP53):g.13169A>T chr17 7517832 7517833 TP53_g.14499G>T - X54156.1(TP53):g.14499G>T chr17 7520283 7520284 TP53_g.12052T>C - X54156.1(TP53):g.12052T>C chr17 7517588 7517589 TP53_g.14743del - X54156.1(TP53):g.14743del chr17 7519179 7519180 TP53_g.13154G>C - X54156.1(TP53):g.13154G>C chr17 7517823 7517825 TP53_g.14507_14508ins1 - X54156.1(TP53):g.14507_14508ins1 chr17 7518250 7518251 TP53_g.14082T>C - X54156.1(TP53):g.14082T>C chr17 7517835 7517836 TP53_g.14496C>T - X54156.1(TP53):g.14496C>T chr17 7518267 7518268 TP53_g.14065G>C - X54156.1(TP53):g.14065G>C chr17 7514704 7514705 TP53_g.17625A>C - X54156.1(TP53):g.17625A>C chr17 7518226 7518227 TP53_g.14106C>T - X54156.1(TP53):g.14106C>T chr17 7517851 7517852 TP53_g.14480G>C - X54156.1(TP53):g.14480G>C chr17 7518319 7518321 TP53_g.14012_14013del - X54156.1(TP53):g.14012_14013del chr17 7519197 7519198 TP53_g.13136C>T - X54156.1(TP53):g.13136C>T chr17 7519203 7519204 TP53_g.13130C>A - X54156.1(TP53):g.13130C>A chr17 7519225 7519226 TP53_g.13108del - X54156.1(TP53):g.13108del chr17 7517817 7517818 TP53_g.14514del - X54156.1(TP53):g.14514del chr17 7518229 7518230 TP53_g.14103A>T - X54156.1(TP53):g.14103A>T chr17 7518930 7518931 TP53_g.13403A>G - X54156.1(TP53):g.13403A>G chr17 7518256 7518257 TP53_g.14076C>T - X54156.1(TP53):g.14076C>T chr17 7517610 7517611 TP53_g.14721G>C - X54156.1(TP53):g.14721G>C chr17 7519276 7519279 TP53_g.13055_13057del - X54156.1(TP53):g.13055_13057del chr17 7519276 7519277 TP53_g.13057C>G - X54156.1(TP53):g.13057C>G chr17 7514706 7514707 TP53_g.17623G>T - X54156.1(TP53):g.17623G>T chr17 7520061 7520062 TP53_g.12274G>A - X54156.1(TP53):g.12274G>A chr17 7518312 7518313 TP53_g.14020C>T - X54156.1(TP53):g.14020C>T chr17 7518280 7518281 TP53_g.14052G>A - X54156.1(TP53):g.14052G>A chr17 7520071 7520078 TP53_g.12258_12264del - X54156.1(TP53):g.12258_12264del chr17 7520053 7520054 TP53_g.12282del - X54156.1(TP53):g.12282del chr17 7518254 7518255 TP53_g.14078A>T - X54156.1(TP53):g.14078A>T chr17 7518241 7518242 TP53_g.14091T>G - X54156.1(TP53):g.14091T>G chr17 7519116 7519117 TP53_g.13217G>T - X54156.1(TP53):g.13217G>T chr17 7519251 7519252 TP53_g.13082T>G - X54156.1(TP53):g.13082T>G chr17 7519242 7519243 TP53_g.13091G>A - X54156.1(TP53):g.13091G>A chr17 7519236 7519237 TP53_g.13097A>C - X54156.1(TP53):g.13097A>C chr17 7518963 7518964 TP53_g.13370G>T - X54156.1(TP53):g.13370G>T chr17 7520130 7520131 TP53_g.12205C>T - X54156.1(TP53):g.12205C>T chr17 7520122 7520123 TP53_g.12213G>T - X54156.1(TP53):g.12213G>T chr17 7517863 7517864 TP53_g.14468C>G - X54156.1(TP53):g.14468C>G chr17 7520254 7520255 TP53_g.12081T>G - X54156.1(TP53):g.12081T>G chr17 7519217 7519252 TP53_g.13082_13116del - X54156.1(TP53):g.13082_13116del chr17 7517866 7517867 TP53_g.14465G>T - X54156.1(TP53):g.14465G>T chr17 7518997 7519000 TP53_g.13334_13336del - X54156.1(TP53):g.13334_13336del chr17 7517634 7517635 TP53_g.14697C>A - X54156.1(TP53):g.14697C>A chr17 7519260 7519261 TP53_g.13073A>G - X54156.1(TP53):g.13073A>G chr17 7518327 7518328 TP53_g.14005C>T - X54156.1(TP53):g.14005C>T chr17 7518922 7518923 TP53_g.13411G>A - X54156.1(TP53):g.13411G>A chr17 7518919 7518920 TP53_g.13414G>A - X54156.1(TP53):g.13414G>A chr17 7518928 7518929 TP53_g.13405T>C - X54156.1(TP53):g.13405T>C chr17 7520158 7520159 TP53_g.12177C>T - X54156.1(TP53):g.12177C>T chr17 7520146 7520147 TP53_g.12189C>T - X54156.1(TP53):g.12189C>T chr17 7520109 7520110 TP53_g.12226A>G - X54156.1(TP53):g.12226A>G chr17 7519259 7519261 TP53_g.13073_13074delinsTG - X54156.1(TP53):g.13073_13074delinsTG chr17 7519174 7519175 TP53_g.13159G>A - X54156.1(TP53):g.13159G>A chr17 7520274 7520275 TP53_g.12061C>T - X54156.1(TP53):g.12061C>T chr17 7519279 7519280 TP53_g.13054G>A - X54156.1(TP53):g.13054G>A chr17 7520047 7520048 TP53_g.12288G>T - X54156.1(TP53):g.12288G>T chr17 7520102 7520103 TP53_g.12233C>T - X54156.1(TP53):g.12233C>T chr17 7517807 7517808 TP53_g.14524G>A - X54156.1(TP53):g.14524G>A chr17 7517754 7517755 TP53_g.14577G>A - X54156.1(TP53):g.14577G>A chr17 7520096 7520097 TP53_g.12239C>T - X54156.1(TP53):g.12239C>T chr17 7517852 7517853 TP53_g.14479T>A - X54156.1(TP53):g.14479T>A chr17 7520088 7520089 TP53_g.12247G>A - X54156.1(TP53):g.12247G>A chr17 7518909 7518910 TP53_g.13424C>T - X54156.1(TP53):g.13424C>T chr17 7517877 7517878 TP53_g.14454G>A - X54156.1(TP53):g.14454G>A chr17 7517840 7517841 TP53_g.14491T>C - X54156.1(TP53):g.14491T>C chr17 7518921 7518922 TP53_g.13412G>A - X54156.1(TP53):g.13412G>A chr17 7517819 7517822 TP53_g.14510_14512delinsCGG - X54156.1(TP53):g.14510_14512delinsCGG chr17 7519094 7519095 TP53_g.13239G>T - X54156.1(TP53):g.13239G>T chr17 7519253 7519254 TP53_g.13080T>G - X54156.1(TP53):g.13080T>G chr17 7517829 7517830 TP53_g.14502C>T - X54156.1(TP53):g.14502C>T chr17 7518293 7518294 TP53_g.14039T>A - X54156.1(TP53):g.14039T>A chr17 7517617 7517618 TP53_g.14714C>T - X54156.1(TP53):g.14714C>T chr17 7518908 7518909 TP53_g.13425C>A - X54156.1(TP53):g.13425C>A chr17 7517778 7517779 TP53_g.14553C>T - X54156.1(TP53):g.14553C>T chr17 7517808 7517810 TP53_g.14522_14523del - X54156.1(TP53):g.14522_14523del chr17 7517782 7517784 TP53_g.14548_14549ins1 - X54156.1(TP53):g.14548_14549ins1 chr17 7518258 7518259 TP53_g.14074G>A - X54156.1(TP53):g.14074G>A chr17 7519169 7519170 TP53_g.13164T>C - X54156.1(TP53):g.13164T>C chr17 7519132 7519133 TP53_g.13201G>C - X54156.1(TP53):g.13201G>C chr17 7519131 7519132 TP53_g.13202C>G - X54156.1(TP53):g.13202C>G chr17 7517819 7517820 TP53_g.14512C>T - X54156.1(TP53):g.14512C>T chr17 7518239 7518240 TP53_g.14093A>G - X54156.1(TP53):g.14093A>G chr17 7518975 7518976 TP53_g.13358del - X54156.1(TP53):g.13358del chr17 7517822 7517823 TP53_g.14509A>T - X54156.1(TP53):g.14509A>T chr17 7517832 7517833 TP53_g.14499G>A - X54156.1(TP53):g.14499G>A chr17 7518284 7518285 TP53_g.14048T>A - X54156.1(TP53):g.14048T>A chr17 7517880 7517881 TP53_g.14451G>A - X54156.1(TP53):g.14451G>A chr17 7520139 7520140 TP53_g.12196G>A - X54156.1(TP53):g.12196G>A chr17 7520054 7520055 TP53_g.12281C>G - X54156.1(TP53):g.12281C>G chr17 7520218 7520219 TP53_g.12117A>T - X54156.1(TP53):g.12117A>T chr17 7520101 7520102 TP53_g.12234C>T - X54156.1(TP53):g.12234C>T chr17 7518981 7518982 TP53_g.13352G>T - X54156.1(TP53):g.13352G>T chr17 7517803 7517804 TP53_g.14528G>T - X54156.1(TP53):g.14528G>T chr17 7519190 7519191 TP53_g.13143C>G - X54156.1(TP53):g.13143C>G chr17 7518903 7518904 TP53_g.13430G>A - X54156.1(TP53):g.13430G>A chr17 7518986 7518987 TP53_g.13347G>C - X54156.1(TP53):g.13347G>C chr17 7519153 7519154 TP53_g.13180G>A - X54156.1(TP53):g.13180G>A chr17 7518277 7518278 TP53_g.14055T>A - X54156.1(TP53):g.14055T>A chr17 7519200 7519201 TP53_g.13133C>A - X54156.1(TP53):g.13133C>A chr17 7518289 7518290 TP53_g.14043A>T - X54156.1(TP53):g.14043A>T chr17 7517777 7517778 TP53_g.14554T>C - X54156.1(TP53):g.14554T>C chr17 7520106 7520107 TP53_g.12229C>T - X54156.1(TP53):g.12229C>T chr17 7518259 7518260 TP53_g.14073del - X54156.1(TP53):g.14073del chr17 7520113 7520114 TP53_g.12222C>T - X54156.1(TP53):g.12222C>T chr17 7520099 7520100 TP53_g.12236G>C - X54156.1(TP53):g.12236G>C chr17 7519129 7519131 TP53_g.13203_13204del - X54156.1(TP53):g.13203_13204del chr17 7518255 7518256 TP53_g.14077C>T - X54156.1(TP53):g.14077C>T chr17 7519203 7519204 TP53_g.13130C>G - X54156.1(TP53):g.13130C>G chr17 7519200 7519201 TP53_g.13133C>G - X54156.1(TP53):g.13133C>G chr17 7518996 7518997 TP53_g.13337C>T - X54156.1(TP53):g.13337C>T chr17 7517862 7517864 TP53_g.14468_14469ins1200 - X54156.1(TP53):g.14468_14469ins1200 chr17 7519127 7519128 TP53_g.13206G>A - X54156.1(TP53):g.13206G>A chr17 7514741 7514742 TP53_g.17588G>A - X54156.1(TP53):g.17588G>A chr17 7518286 7518287 TP53_g.14046G>A - X54156.1(TP53):g.14046G>A chr17 7519181 7519182 TP53_g.13152G>A - X54156.1(TP53):g.13152G>A chr17 7518316 7518317 TP53_g.14016C>T - X54156.1(TP53):g.14016C>T chr17 7518262 7518263 TP53_g.14070G>A - X54156.1(TP53):g.14070G>A chr17 7514739 7514740 TP53_g.17590T>C - X54156.1(TP53):g.17590T>C chr17 7518304 7518305 TP53_g.14028A>G - X54156.1(TP53):g.14028A>G chr17 7518275 7518276 TP53_g.14057G>T - X54156.1(TP53):g.14057G>T chr17 7517809 7517810 TP53_g.14522G>A - X54156.1(TP53):g.14522G>A chr17 7519256 7519268 TP53_g.13066_13077del - X54156.1(TP53):g.13066_13077del chr17 7517845 7517846 TP53_g.14486C>T - X54156.1(TP53):g.14486C>T chr17 7519185 7519186 TP53_g.13148G>T - X54156.1(TP53):g.13148G>T chr17 7519167 7519168 TP53_g.13166T>A - X54156.1(TP53):g.13166T>A chr17 7519172 7519173 TP53_g.13161C>T - X54156.1(TP53):g.13161C>T chr17 7519168 7519169 TP53_g.13165C>G - X54156.1(TP53):g.13165C>G chr17 7519115 7519116 TP53_g.13218A>C - X54156.1(TP53):g.13218A>C chr17 7518950 7518951 TP53_g.13383A>G - X54156.1(TP53):g.13383A>G chr17 7518272 7518273 TP53_g.14060G>A - X54156.1(TP53):g.14060G>A chr17 7519101 7519102 TP53_g.13232A>C - X54156.1(TP53):g.13232A>C chr17 7519000 7519003 TP53_g.13331_13333del - X54156.1(TP53):g.13331_13333del chr17 7517760 7517761 TP53_g.14571del - X54156.1(TP53):g.14571del chr17 7517756 7517757 TP53_g.14575del - X54156.1(TP53):g.14575del chr17 7518263 7518264 TP53_g.14069C>T - X54156.1(TP53):g.14069C>T chr17 7519152 7519153 TP53_g.13181C>T - X54156.1(TP53):g.13181C>T chr17 7518264 7518265 TP53_g.14068C>T - X54156.1(TP53):g.14068C>T chr17 7519230 7519231 TP53_g.13103C>T - X54156.1(TP53):g.13103C>T chr17 7519202 7519203 TP53_g.13131C>T - X54156.1(TP53):g.13131C>T chr17 7519139 7519140 TP53_g.13194T>C - X54156.1(TP53):g.13194T>C chr17 7519256 7519257 TP53_g.13077T>C - X54156.1(TP53):g.13077T>C chr17 7519223 7519224 TP53_g.13110A>G - X54156.1(TP53):g.13110A>G chr17 7519124 7519125 TP53_g.13209C>T - X54156.1(TP53):g.13209C>T chr17 7519150 7519151 TP53_g.13183C>T - X54156.1(TP53):g.13183C>T chr17 7519144 7519145 TP53_g.13189G>A - X54156.1(TP53):g.13189G>A chr17 7519141 7519142 TP53_g.13192G>A - X54156.1(TP53):g.13192G>A chr17 7519157 7519158 TP53_g.13176C>T - X54156.1(TP53):g.13176C>T chr17 7519123 7519124 TP53_g.13210C>T - X54156.1(TP53):g.13210C>T chr17 7519140 7519141 TP53_g.13193G>A - X54156.1(TP53):g.13193G>A chr17 7517855 7517856 TP53_g.14476C>T - X54156.1(TP53):g.14476C>T chr17 7517643 7517644 TP53_g.14688C>T - X54156.1(TP53):g.14688C>T chr17 7517631 7517632 TP53_g.14700C>T - X54156.1(TP53):g.14700C>T chr17 7517626 7517627 TP53_g.14705C>T - X54156.1(TP53):g.14705C>T chr17 7520062 7520063 TP53_g.12273G>C - X54156.1(TP53):g.12273G>C chr17 7520209 7520210 TP53_g.12126G>C - X54156.1(TP53):g.12126G>C chr17 7519251 7519252 TP53_g.13082T>C - X54156.1(TP53):g.13082T>C chr17 7519005 7519006 TP53_g.13328C>T - X54156.1(TP53):g.13328C>T chr17 7518292 7518293 TP53_g.14040G>T - X54156.1(TP53):g.14040G>T chr17 7518310 7518311 TP53_g.14022T>C - X54156.1(TP53):g.14022T>C chr17 7517844 7517845 TP53_g.14487G>A - X54156.1(TP53):g.14487G>A chr17 7518936 7518937 TP53_g.13397C>T - X54156.1(TP53):g.13397C>T chr17 7517817 7517818 TP53_g.14514G>T - X54156.1(TP53):g.14514G>T chr17 7518914 7518915 TP53_g.13419A>G - X54156.1(TP53):g.13419A>G chr17 7518272 7518273 TP53_g.14060G>C - X54156.1(TP53):g.14060G>C chr17 7519119 7519120 TP53_g.13214C>T - X54156.1(TP53):g.13214C>T chr17 7518271 7518272 TP53_g.14061G>A - X54156.1(TP53):g.14061G>A chr17 7519130 7519131 TP53_g.13203G>A - X54156.1(TP53):g.13203G>A chr17 7518232 7518233 TP53_g.14100A>G - X54156.1(TP53):g.14100A>G chr17 7518278 7518279 TP53_g.14054A>T - X54156.1(TP53):g.14054A>T chr17 7519214 7519215 TP53_g.13119T>G - X54156.1(TP53):g.13119T>G chr17 7519184 7519185 TP53_g.13149T>A - X54156.1(TP53):g.13149T>A chr17 7518279 7518280 TP53_g.14053C>G - X54156.1(TP53):g.14053C>G chr17 7518318 7518319 TP53_g.14014T>A - X54156.1(TP53):g.14014T>A chr17 7518290 7518291 TP53_g.14042A>G - X54156.1(TP53):g.14042A>G chr17 7517845 7517846 TP53_g.14486C>A - X54156.1(TP53):g.14486C>A chr17 7517869 7517870 TP53_g.14462C>A - X54156.1(TP53):g.14462C>A chr17 7518294 7518295 TP53_g.14038G>A - X54156.1(TP53):g.14038G>A chr17 7519177 7519183 TP53_g.13151_13156del - X54156.1(TP53):g.13151_13156del chr17 7517866 7517868 TP53_g.14464_14465ins1 - X54156.1(TP53):g.14464_14465ins1 chr17 7520268 7520269 TP53_g.12067A>G - X54156.1(TP53):g.12067A>G chr17 7519259 7519260 TP53_g.13074A>G - X54156.1(TP53):g.13074A>G chr17 7519209 7519210 TP53_g.13124T>A - X54156.1(TP53):g.13124T>A chr17 7518968 7518969 TP53_g.13365G>A - X54156.1(TP53):g.13365G>A chr17 7518297 7518298 TP53_g.14035C>G - X54156.1(TP53):g.14035C>G chr17 7518292 7518293 TP53_g.14040G>A - X54156.1(TP53):g.14040G>A chr17 7518240 7518241 TP53_g.14092C>T - X54156.1(TP53):g.14092C>T chr17 7517852 7517853 TP53_g.14479T>C - X54156.1(TP53):g.14479T>C chr17 7519183 7519184 TP53_g.13150C>T - X54156.1(TP53):g.13150C>T chr17 7519158 7519159 TP53_g.13175T>G - X54156.1(TP53):g.13175T>G chr17 7517842 7517843 TP53_g.14489G>C - X54156.1(TP53):g.14489G>C chr17 7519127 7519128 TP53_g.13206G>T - X54156.1(TP53):g.13206G>T chr17 7519178 7519179 TP53_g.13155C>A - X54156.1(TP53):g.13155C>A chr17 7519176 7519177 TP53_g.13157A>C - X54156.1(TP53):g.13157A>C chr17 7517818 7517819 TP53_g.14513C>T - X54156.1(TP53):g.14513C>T chr17 7519216 7519217 TP53_g.13117G>A - X54156.1(TP53):g.13117G>A chr17 7518918 7518919 TP53_g.13415del - X54156.1(TP53):g.13415del chr17 7519217 7519218 TP53_g.13116G>A - X54156.1(TP53):g.13116G>A chr17 7519007 7519008 TP53_g.13326C>T - X54156.1(TP53):g.13326C>T chr17 7519157 7519158 TP53_g.13176C>A - X54156.1(TP53):g.13176C>A chr17 7518947 7518949 TP53_g.13385_13386del - X54156.1(TP53):g.13385_13386del chr17 7517786 7517787 TP53_g.14545A>G - X54156.1(TP53):g.14545A>G chr17 7518299 7518300 TP53_g.14033T>C - X54156.1(TP53):g.14033T>C chr17 7518283 7518284 TP53_g.14049C>T - X54156.1(TP53):g.14049C>T chr17 7519137 7519138 TP53_g.13196G>A - X54156.1(TP53):g.13196G>A chr17 7517866 7517867 TP53_g.14465G>A - X54156.1(TP53):g.14465G>A chr17 7517836 7517837 TP53_g.14495G>A - X54156.1(TP53):g.14495G>A chr17 7519199 7519200 TP53_g.13134C>T - X54156.1(TP53):g.13134C>T chr17 7517716 7517717 TP53_g.14615G>C - X54156.1(TP53):g.14615G>C chr17 7514727 7514728 TP53_g.17602C>T - X54156.1(TP53):g.17602C>T chr17 7520137 7520138 TP53_g.12198del - X54156.1(TP53):g.12198del chr17 7517852 7517853 TP53_g.14479T>G - X54156.1(TP53):g.14479T>G chr17 7517621 7517622 TP53_g.14710C>T - X54156.1(TP53):g.14710C>T chr17 7518258 7518259 TP53_g.14074G>C - X54156.1(TP53):g.14074G>C chr17 7517823 7517824 TP53_g.14508G>C - X54156.1(TP53):g.14508G>C chr17 7519202 7519203 TP53_g.13131C>G - X54156.1(TP53):g.13131C>G chr17 7517762 7517763 TP53_g.14569C>A - X54156.1(TP53):g.14569C>A chr17 7517760 7517761 TP53_g.14571C>T - X54156.1(TP53):g.14571C>T chr17 7517620 7517621 TP53_g.14711A>C - X54156.1(TP53):g.14711A>C chr17 7518260 7518261 TP53_g.14072del - X54156.1(TP53):g.14072del chr17 7517844 7517845 TP53_g.14487G>T - X54156.1(TP53):g.14487G>T chr17 7519164 7519165 TP53_g.13169A>G - X54156.1(TP53):g.13169A>G chr17 7519118 7519119 TP53_g.13215A>G - X54156.1(TP53):g.13215A>G chr17 7517806 7517807 TP53_g.14525G>A - X54156.1(TP53):g.14525G>A chr17 7517821 7517822 TP53_g.14510G>A - X54156.1(TP53):g.14510G>A chr17 7517861 7517870 TP53_g.14462_14470del - X54156.1(TP53):g.14462_14470del chr17 7519112 7519113 TP53_g.13221G>C - X54156.1(TP53):g.13221G>C chr17 7518935 7518937 TP53_g.13397_13398del - X54156.1(TP53):g.13397_13398del chr17 7519276 7519277 TP53_g.13057C>A - X54156.1(TP53):g.13057C>A chr17 7518303 7518304 TP53_g.14029C>A - X54156.1(TP53):g.14029C>A chr17 7519166 7519167 TP53_g.13167A>G - X54156.1(TP53):g.13167A>G chr17 7519116 7519117 TP53_g.13217G>A - X54156.1(TP53):g.13217G>A chr17 7519240 7519261 TP53_g.13073_13093del - X54156.1(TP53):g.13073_13093del chr17 7518274 7518275 TP53_g.14058G>A - X54156.1(TP53):g.14058G>A chr17 7517865 7517866 TP53_g.14466G>A - X54156.1(TP53):g.14466G>A chr17 7517830 7517831 TP53_g.14501C>T - X54156.1(TP53):g.14501C>T chr17 7517801 7517802 TP53_g.14530G>A - X54156.1(TP53):g.14530G>A chr17 7517749 7517750 TP53_g.14582A>T - X54156.1(TP53):g.14582A>T chr17 7519240 7519241 TP53_g.13093C>G - X54156.1(TP53):g.13093C>G chr17 7517803 7517804 TP53_g.14528G>A - X54156.1(TP53):g.14528G>A chr17 7519227 7519228 TP53_g.13106G>A - X54156.1(TP53):g.13106G>A chrX 66725838 66725839 ARdb_0345 + M20132.1(AR):g.2958G>T chrX 66714535 66714536 ARdb_0111 + M20132.1(AR):g.2516G>A chrX 66646231 66646232 ARdb_0040 + M20132.1(AR):g.2089G>T chrX 66646207 66646208 ARdb_0037 + M20132.1(AR):g.2065G>T chrX 66725806 66725807 ARdb_0251 + M20132.1(AR):g.2926G>A chrX 66646230 66646231 ARdb_0039 + M20132.1(AR):g.2088T>C chrX 66646180 66646181 ARdb_0034 + M20132.1(AR):g.2038G>A chrX 66725733 66725734 ARdb_0213 + M20132.1(AR):g.2853C>T chrX 66725805 66725806 ARdb_0240 + M20132.1(AR):g.2925C>T chrX 66725833 66725834 ARdb_0258 + M20132.1(AR):g.2953A>G chrX 66720445 66720446 ARdb_0154 + M20132.1(AR):g.2638C>T chrX 66688953 66688954 ARdb_0071 + M20132.1(AR):g.2209T>G chrX 66725761 66725762 ARdb_0337 + M20132.1(AR):g.2881G>A chrX 66726572 66726573 ARdb_0275 + M20132.1(AR):g.2991A>G chrX 66714464 66714465 ARdb_0096 + M20132.1(AR):g.2445G>C chrX 66714464 66714465 ARdb_0097 + M20132.1(AR):g.2445G>A chrX 66688929 66688930 ARdb_0061 + M20132.1(AR):g.2185G>A chrX 66726550 66726551 ARdb_0269 + M20132.1(AR):g.2969T>G chrX 66726590 66726591 ARdb_0282 + M20132.1(AR):g.3009A>T chrX 66720457 66720458 ARdb_0158 + M20132.1(AR):g.2650A>G chrX 66724699 66724700 ARdb_0336 + M20132.1(AR):g.2682C>T chrX 66725734 66725735 ARdb_0216 + M20132.1(AR):g.2854G>A chrX 66548192 66548193 ARdb_0008 + M20132.1(AR):g.540C>T chrX 66549613 66549614 ARdb_0027 + M20132.1(AR):g.1964C>G chrX 66688895 66688896 ARdb_0054 + M20132.1(AR):g.2151A>G chrX 66724738 66724739 ARdb_0196 + M20132.1(AR):g.2721A>G chrX 66720393 66720394 ARdb_0131 + M20132.1(AR):g.2586A>G chrX 66724820 66724821 ARdb_0209 + M20132.1(AR):g.2803G>A chrX 66725703 66725704 ARdb_0212 + M20132.1(AR):g.2823C>G chrX 66725760 66725761 ARdb_0220 + M20132.1(AR):g.2880C>T chrX 66725838 66725839 ARdb_0262 + AR:p.V866L chrX 66714411 66714412 ARdb_0086 + M20132.1(AR):g.2392T>C chrX 66724700 66724701 ARdb_0181 + M20132.1(AR):g.2683G>A chrX 66720405 66720406 ARdb_0137 + M20132.1(AR):g.2598G>A chrX 66720424 66720425 ARdb_0147 + M20132.1(AR):g.2617G>A chrX 66720453 66720454 ARdb_0155 + M20132.1(AR):g.2646C>T chrX 66720363 66720364 ARdb_0310 + M20132.1(AR):g.2556G>A chrX 66720363 66720364 ARdb_0125 + M20132.1(AR):g.2556G>T chrX 66688892 66688893 ARdb_0053 + M20132.1(AR):g.2148G>A chrX 66688926 66688927 ARdb_0058 + M20132.1(AR):g.2182G>A chrX 66720484 66720485 ARdb_0173 + M20132.1(AR):g.2677A>G chrX 66548644 66548645 ARdb_0376 + M20132.1(AR):g.992G>A chrX 66714455 66714458 ARdb_0095 + M20132.1(AR):g.2436_2438del chrX 66720418 66720419 ARdb_0142 + M20132.1(AR):g.2611G>A chrX 66720462 66720463 ARdb_0163 + M20132.1(AR):g.2655G>A chrX 66725832 66725833 ARdb_0257 + M20132.1(AR):g.2952G>A chrX 66720395 66720396 ARdb_0132 + M20132.1(AR):g.2588G>A chrX 66724719 66724720 ARdb_0189 + M20132.1(AR):g.2702G>A chrX 66724771 66724772 ARdb_0202 + M20132.1(AR):g.2754C>G chrX 66720423 66720424 ARdb_0145 + M20132.1(AR):g.2616C>T chrX 66724735 66724736 ARdb_0195 + M20132.1(AR):g.2718C>T chrX 66714485 66714486 ARdb_0100 + M20132.1(AR):g.2466T>G chrX 66714495 66714496 ARdb_0102 + M20132.1(AR):g.2476A>G chrX 66720463 66720464 ARdb_0167 + M20132.1(AR):g.2656C>T chrX 66726608 66726609 ARdb_0284 + M20132.1(AR):g.3027G>A chrX 66726554 66726555 ARdb_0272 + M20132.1(AR):g.2973A>G chrX 66720461 66720462 ARdb_0162 + M20132.1(AR):g.2654C>G chrX 66720484 66720485 ARdb_0174 + M20132.1(AR):g.2677A>C chrX 66724758 66724759 ARdb_0198 + M20132.1(AR):g.2741G>C chrX 66726653 66726654 ARdb_0289 + M20132.1(AR):g.3072C>T chrX 66646246 66646249 ARdb_0045 + M20132.1(AR):g.2104_2106del chrX 66688948 66688951 ARdb_0064 + M20132.1(AR):g.2204_2206del chrX 66688950 66688951 ARdb_0065 + M20132.1(AR):g.2206G>A chrX 66720357 66720358 ARdb_0122 + M20132.1(AR):g.2550G>A chrX 66720414 66720415 ARdb_0140 + M20132.1(AR):g.2607A>G chrX 66725800 66725801 ARdb_0237 + M20132.1(AR):g.2920C>G chrX 66725743 66725744 ARdb_0219 + M20132.1(AR):g.2863A>G chrX 66720397 66720398 ARdb_0133 + M20132.1(AR):g.2590G>T chrX 66726654 66726655 ARdb_0290 + M20132.1(AR):g.3073C>A chrX 66725839 66725840 ARdb_0268 + M20132.1(AR):g.2959T>A chrX 66726650 66726651 ARdb_0288 + M20132.1(AR):g.3069G>A chrX 66720352 66720353 ARdb_0121 + M20132.1(AR):g.2545T>C chrX 66725838 66725839 ARdb_0263 + M20132.1(AR):g.2958G>A chrX 66725803 66725804 ARdb_0239 + M20132.1(AR):g.2923G>A chrX 66720368 66720369 ARdb_0128 + M20132.1(AR):g.2561G>T chrX 66714422 66714423 ARdb_0087 + M20132.1(AR):g.2403G>A chrX 66725767 66725768 ARdb_0234 + M20132.1(AR):g.2887T>C chrX 66720429 66720430 ARdb_0149 + M20132.1(AR):g.2622T>G chrX 66726680 66726681 ARdb_0293 + M20132.1(AR):g.3099C>T chrX 66725701 66725702 ARdb_0211 + M20132.1(AR):g.2821G>C chrX 66724799 66724800 ARdb_0208 + M20132.1(AR):g.2782T>G chrX 66646245 66646246 ARdb_0044 + M20132.1(AR):g.2103G>T chrX 66646206 66646207 ARdb_0035 + M20132.1(AR):g.2064G>T chrX 66714488 66714489 ARdb_0101 + M20132.1(AR):g.2469A>G chrX 66688956 66688957 ARdb_0074 + M20132.1(AR):g.2212G>C chrX 66726552 66726553 ARdb_0270 + M20132.1(AR):g.2971C>T chrX 66726584 66726585 ARdb_0281 + M20132.1(AR):g.3003C>G chrX 66726662 66726663 ARdb_0291 + M20132.1(AR):g.3081C>T chrX 66714483 66714484 ARdb_0099 + M20132.1(AR):g.2464T>A chrX 66714449 66714452 ARdb_0094 + M20132.1(AR):g.2430_2432del chrX 66720465 66720466 ARdb_0168 + M20132.1(AR):g.2658C>T chrX 66688908 66688909 ARdb_0055 + M20132.1(AR):g.2164G>T chrX 66548395 66548396 ARdb_0011 + M20132.1(AR):g.743del chrX 66714526 66714527 ARdb_0109 + M20132.1(AR):g.2507G>A chrX 66548675 66548676 ARdb_0695 + M20132.1(AR):g.1023G>C chrX 66646249 66646250 ARdb_0047 + M20132.1(AR):g.2107T>C chrX 66688916 66688917 ARdb_0056 + M20132.1(AR):g.2172G>T chrX 66714504 66714505 ARdb_0106 + M20132.1(AR):g.2485G>C chrX 66720431 66720432 ARdb_0151 + M20132.1(AR):g.2624C>A chrX 66720480 66720481 ARdb_0171 + M20132.1(AR):g.2673A>C chrX 66724714 66724715 ARdb_0186 + M20132.1(AR):g.2697C>T chrX 66726552 66726553 ARdb_0315 + M20132.1(AR):g.2971C>G chrX 66724747 66724748 ARdb_0197 + M20132.1(AR):g.2730C>T chrX 66720459 66720460 ARdb_0160 + AR:p.F764L chrX 66725785 66725787 ARdb_0236 + M20132.1(AR):g.2905_2906insA chrX 66548012 66548013 ARdb_0001 + M20132.1(AR):g.366G>A chrX 66714431 66714432 ARdb_0090 + M20132.1(AR):g.2412G>A chrX 66688953 66688954 ARdb_0072 + M20132.1(AR):g.2209T>C chrX 66549071 66549072 ARdb_0020 + M20132.1(AR):g.1419G>T chrX 66549451 66549452 ARdb_0024 + M20132.1(AR):g.1802C>A chrX 66646241 66646242 ARdb_0043 + M20132.1(AR):g.2099del chrX 66646145 66646146 ARdb_0032 + M20132.1(AR):g.2003G>T chrX 66549182 66549183 ARdb_0338 + M20132.1(AR):g.1530C>T chrX 66646240 66646241 ARdb_0041 + M20132.1(AR):g.2098G>A chrX 66720456 66720457 ARdb_0157 + M20132.1(AR):g.2649T>C chrX 66720470 66720471 ARdb_0170 + M20132.1(AR):g.2663T>G chrX 66720342 66720343 ARdb_0118 + M20132.1(AR):g.2535T>C chrX 66720379 66720380 ARdb_0129 + M20132.1(AR):g.2572T>C chrX 66724796 66724797 ARdb_0206 + M20132.1(AR):g.2779G>A chrX 66688925 66688926 ARdb_0057 + M20132.1(AR):g.2181C>T chrX 66646258 66646259 ARdb_0048 + M20132.1(AR):g.2116G>A chrX 66724798 66724799 ARdb_0207 + M20132.1(AR):g.2781A>G chrX 66714372 66714373 ARdb_0082 + M20132.1(AR):g.2353T>A chrX 66548830 66548831 ARdb_0019 + M20132.1(AR):g.1178del chrX 66646222 66646223 ARdb_0038 + M20132.1(AR):g.2080C>A chrX 66720420 66720421 ARdb_0144 + M20132.1(AR):g.2613T>A chrX 66720399 66720400 ARdb_0135 + M20132.1(AR):g.2592C>T chrX 66714542 66714543 ARdb_0113 + M20132.1(AR):g.2523G>A chrX 66726563 66726564 ARdb_0273 + M20132.1(AR):g.2982C>T chrX 66726573 66726574 ARdb_0280 + M20132.1(AR):g.2992C>G chrX 66720483 66720484 ARdb_0172 + M20132.1(AR):g.2676G>T chrX 66549126 66549127 ARdb_0021 + M20132.1(AR):g.1474G>T chrX 66726668 66726669 ARdb_0292 + M20132.1(AR):g.3087G>A chrX 66720346 66720347 ARdb_0119 + M20132.1(AR):g.2539G>T chrX 66548169 66548170 ARdb_0003 + M20132.1(AR):g.523T>C chrX 66548178 66548179 ARdb_0005 + M20132.1(AR):g.532T>A chrX 66548268 66548270 ARdb_0416 + M20132.1(AR):g.616_617insA chrX 66548350 66548351 ARdb_0010 + M20132.1(AR):g.698G>T chrX 66548439 66548440 ARdb_0694 + M20132.1(AR):g.787G>T chrX 66548819 66548820 ARdb_0018 + M20132.1(AR):g.1167C>T chrX 66714390 66714391 ARdb_0083 + M20132.1(AR):g.2371A>G chrX 66714393 66714394 ARdb_0084 + M20132.1(AR):g.2374C>A chrX 66724724 66724725 ARdb_0194 + M20132.1(AR):g.2707G>A chrX 66646146 66646147 ARdb_0033 + M20132.1(AR):g.2004C>T chrX 66548529 66548530 ARdb_0013 + M20132.1(AR):g.877T>G chrX 66548553 66548554 ARdb_0014 + M20132.1(AR):g.901A>G chrX 66714315 66714316 ARdb_0080 + M20132.1(AR):g.2296C>A chrX 66714396 66714397 ARdb_0085 + M20132.1(AR):g.2377T>C chrX 66714437 66714438 ARdb_0091 + M20132.1(AR):g.2418T>C chrX 66714441 66714442 ARdb_0092 + M20132.1(AR):g.2422C>T chrX 66714515 66714516 ARdb_0108 + M20132.1(AR):g.2496C>G chrX 66714545 66714546 ARdb_0114 + AR:p.L722F chrX 66720436 66720437 ARdb_0153 + M20132.1(AR):g.2629A>G chrX 66724760 66724761 ARdb_0199 + M20132.1(AR):g.2743T>C chrX 66725764 66725765 ARdb_0233 + M20132.1(AR):g.2884T>G chrX 66726635 66726636 ARdb_0642 + M20132.1(AR):g.3054A>T chrX 66720350 66720351 ARdb_0120 + M20132.1(AR):g.2543C>G chrX 66646240 66646241 ARdb_0042 + M20132.1(AR):g.2098G>T chrX 66646249 66646250 ARdb_0046 + M20132.1(AR):g.2107T>A chrX 66714501 66714502 ARdb_0105 + M20132.1(AR):g.2482T>G chrX 66726599 66726600 ARdb_0309 + M20132.1(AR):g.3018A>G chrX 66549516 66549517 ARdb_0025 + M20132.1(AR):g.1867G>A chrX 66549594 66549595 ARdb_0026 + M20132.1(AR):g.1945A>G chrX 66688874 66688875 ARdb_0052 + M20132.1(AR):g.2130A>T chrX 66720390 66720391 ARdb_0130 + M20132.1(AR):g.2583T>C chrX 66720412 66720413 ARdb_0139 + M20132.1(AR):g.2605C>A chrX 66720459 66720460 ARdb_0161 + M20132.1(AR):g.2652T>C chrX 66720467 66720468 ARdb_0169 + M20132.1(AR):g.2660del chrX 66724767 66724768 ARdb_0201 + M20132.1(AR):g.2750G>A chrX 66714429 66714430 ARdb_0089 + M20132.1(AR):g.2410G>C chrX 66688934 66688935 ARdb_0063 + M20132.1(AR):g.2190A>C chrX 66714539 66714540 ARdb_0112 + M20132.1(AR):g.2520A>G chrX 66714267 66714268 ARdb_0306 + M20132.1(AR):g.2248G>A chrX 66720439 66720440 ARdb_0300 + M20132.1(AR):g.2632T>C chrX 66726691 66726692 ARdb_0318 + M20132.1(AR):g.3110C>G chrX 66714270 66714271 ARdb_0079 + M20132.1(AR):g.2251A>C chrX 66726601 66726602 ARdb_0697 + M20132.1(AR):g.3020G>A chrX 66714504 66714505 ARdb_0577 + M20132.1(AR):g.2485G>A chrX 66726699 66726700 ARdb_0303 + M20132.1(AR):g.3118A>G chrX 66548595 66548596 ARdb_0319 + M20132.1(AR):g.943A>G chrX 66548647 66548648 ARdb_0328 + M20132.1(AR):g.995G>A chrX 66646216 66646217 ARdb_0332 + M20132.1(AR):g.2074A>G chrX 66714465 66714466 ARdb_0335 + M20132.1(AR):g.2446A>T chrX 66549183 66549184 ARdb_0022 + M20132.1(AR):g.1531C>G chrX 66549544 66549545 ARdb_0339 + M20132.1(AR):g.1895G>A chrX 66720442 66720443 ARdb_0346 + M20132.1(AR):g.2635A>C chrX 66548778 66548779 ARdb_0350 + M20132.1(AR):g.1126T>C chrX 66688950 66688951 ARdb_0070 + M20132.1(AR):g.2206G>C chrX 66725830 66725831 ARdb_0256 + M20132.1(AR):g.2950T>G chrX 66720391 66720392 ARdb_0360 + M20132.1(AR):g.2584G>A chrX 66720412 66720413 ARdb_0363 + M20132.1(AR):g.2605C>T chrX 66720416 66720417 ARdb_0364 + M20132.1(AR):g.2609G>A chrX 66720417 66720418 ARdb_0365 + M20132.1(AR):g.2610G>A chrX 66720421 66720422 ARdb_0366 + M20132.1(AR):g.2614G>A chrX 66720422 66720423 ARdb_0368 + M20132.1(AR):g.2615G>A chrX 66720429 66720430 ARdb_0369 + M20132.1(AR):g.2622T>C chrX 66720432 66720433 ARdb_0370 + M20132.1(AR):g.2625A>G chrX 66720444 66720445 ARdb_0371 + M20132.1(AR):g.2637T>C chrX 66726669 66726670 ARdb_0374 + M20132.1(AR):g.3088G>A chrX 66726672 66726673 ARdb_0327 + M20132.1(AR):g.3091A>G chrX 66726617 66726618 ARdb_0389 + M20132.1(AR):g.3036C>T chrX 66548657 66548658 ARdb_0379 + M20132.1(AR):g.1005G>A chrX 66724730 66724731 ARdb_0383 + M20132.1(AR):g.2713G>A chrX 66726618 66726619 ARdb_0375 + M20132.1(AR):g.3037C>T chrX 66688896 66688897 ARdb_0390 + M20132.1(AR):g.2152G>C chrX 66725756 66725757 ARdb_0392 + M20132.1(AR):g.2876C>T chrX 66548629 66548630 ARdb_0395 + M20132.1(AR):g.977C>G chrX 66549033 66549034 ARdb_0398 + M20132.1(AR):g.1381C>T chrX 66714299 66714300 ARdb_0400 + M20132.1(AR):g.2280C>T chrX 66724813 66724814 ARdb_0403 + M20132.1(AR):g.2796C>T chrX 66725734 66725735 ARdb_0218 + M20132.1(AR):g.2854G>T chrX 66724743 66724744 ARdb_0406 + M20132.1(AR):g.2726G>T chrX 66726627 66726628 ARdb_0386 + M20132.1(AR):g.3046T>C chrX 66725760 66725761 ARdb_0415 + M20132.1(AR):g.2880C>A chrX 66548276 66548277 ARdb_0672 + M20132.1(AR):g.624C>T chrX 66548351 66548352 ARdb_0418 + M20132.1(AR):g.699C>T chrX 66548370 66548371 ARdb_0631 + M20132.1(AR):g.718C>A chrX 66549221 66549222 ARdb_0426 + M20132.1(AR):g.1569C>T chrX 66724799 66724800 ARdb_0428 + M20132.1(AR):g.2782T>C chrX 66726674 66726675 ARdb_0430 + M20132.1(AR):g.3093G>C chrX 66688962 66688963 ARdb_0431 + M20132.1(AR):g.2218G>A chrX 66726611 66726612 ARdb_0433 + M20132.1(AR):g.3030G>A chrX 66646248 66646251 ARdb_0442 + M20132.1(AR):g.2106_2108del chrX 66714443 66714444 ARdb_0446 + M20132.1(AR):g.2424G>T chrX 66714479 66714480 ARdb_0447 + M20132.1(AR):g.2460T>A chrX 66714510 66714511 ARdb_0450 + M20132.1(AR):g.2491G>C chrX 66714548 66714549 ARdb_0451 + M20132.1(AR):g.2529C>T chrX 66714551 66714552 ARdb_0452 + M20132.1(AR):g.2532G>A chrX 66720340 66720341 ARdb_0453 + M20132.1(AR):g.2533G>A chrX 66725835 66725836 ARdb_0486 + M20132.1(AR):g.2955T>C chrX 66726693 66726694 ARdb_0477 + M20132.1(AR):g.3112A>G chrX 66646227 66646228 ARdb_0489 + M20132.1(AR):g.2085A>G chrX 66646243 66646244 ARdb_0487 + M20132.1(AR):g.2101A>G chrX 66646261 66646262 ARdb_0488 + M20132.1(AR):g.2119C>T chrX 66646263 66646264 ARdb_0490 + M20132.1(AR):g.2121G>T chrX 66720411 66720412 ARdb_0492 + M20132.1(AR):g.2604G>A chrX 66725767 66725768 ARdb_0591 + M20132.1(AR):g.2887T>A chrX 66725692 66725693 ARdb_0685 + M20132.1(AR):g.2812C>G chrX 66646233 66646234 ARdb_0554 + M20132.1(AR):g.2091G>A chrX 66688949 66688950 ARdb_0512 + M20132.1(AR):g.2205C>G chrX 66725712 66725713 ARdb_0513 + M20132.1(AR):g.2832C>A chrX 66548471 66548472 ARdb_0516 + M20132.1(AR):g.819G>T chrX 66714338 66714339 ARdb_0555 + M20132.1(AR):g.2319G>A chrX 66548320 66548321 ARdb_0417 + M20132.1(AR):g.668del chrX 66720384 66720385 ARdb_0530 + M20132.1(AR):g.2577T>G chrX 66548607 66548608 ARdb_0551 + M20132.1(AR):g.955A>G chrX 66548620 66548621 ARdb_0549 + M20132.1(AR):g.968A>G chrX 66548678 66548679 ARdb_0548 + M20132.1(AR):g.1026A>G chrX 66548683 66548684 ARdb_0650 + M20132.1(AR):g.1031C>G chrX 66548873 66548874 ARdb_0606 + M20132.1(AR):g.1221G>T chrX 66549183 66549184 ARdb_0608 + M20132.1(AR):g.1531C>T chrX 66646215 66646216 ARdb_0545 + M20132.1(AR):g.2073T>C chrX 66720391 66720392 ARdb_0552 + AR:p.W741C chrX 66720397 66720398 ARdb_0536 + M20132.1(AR):g.2590G>A chrX 66720465 66720466 ARdb_0681 + M20132.1(AR):g.2658C>G chrX 66720471 66720472 ARdb_0544 + M20132.1(AR):g.2664C>A chrX 66724778 66724779 ARdb_0596 + M20132.1(AR):g.2761C>T chrX 66724779 66724780 ARdb_0542 + M20132.1(AR):g.2762del chrX 66724784 66724785 ARdb_0521 + M20132.1(AR):g.2767A>G chrX 66725721 66725722 ARdb_0537 + M20132.1(AR):g.2841T>G chrX 66726564 66726565 ARdb_0538 + M20132.1(AR):g.2983A>G chrX 66726578 66726579 ARdb_0539 + M20132.1(AR):g.2997G>T chrX 66726579 66726580 ARdb_0553 + M20132.1(AR):g.2998A>C chrX 66726607 66726608 ARdb_0533 + M20132.1(AR):g.3026C>T chrX 66548902 66548903 ARdb_0556 + M20132.1(AR):g.1250C>A chrX 66646237 66646238 ARdb_0509 + M20132.1(AR):g.2095G>C chrX 66724786 66724787 ARdb_0498 + M20132.1(AR):g.2769G>A chrX 66549552 66549553 ARdb_0567 + M20132.1(AR):g.1903C>T chrX 66549608 66549609 ARdb_0570 + M20132.1(AR):g.1959C>T chrX 66714447 66714448 ARdb_0575 + M20132.1(AR):g.2428A>C chrX 66714504 66714505 ARdb_0107 + M20132.1(AR):g.2485G>T chrX 66724789 66724790 ARdb_0563 + M20132.1(AR):g.2772T>C chrX 66720438 66720439 ARdb_0573 + M20132.1(AR):g.2631G>A chrX 66720435 66720436 ARdb_0602 + M20132.1(AR):g.2628A>G chrX 66548187 66548188 ARdb_0612 + M20132.1(AR):g.535A>T chrX 66720388 66720389 ARdb_0616 + M20132.1(AR):g.2581C>G chrX 66714321 66714322 ARdb_0081 + M20132.1(AR):g.2302G>A chrX 66714422 66714423 ARdb_0618 + M20132.1(AR):g.2403G>T chrX 66714425 66714426 ARdb_0534 + M20132.1(AR):g.2406C>A chrX 66720340 66720341 ARdb_0620 + M20132.1(AR):g.2533G>C chrX 66725726 66725728 ARdb_0622 + M20132.1(AR):g.2846_2847insCA chrX 66725730 66725731 ARdb_0522 + M20132.1(AR):g.2850C>G chrX 66726594 66726595 ARdb_0623 + M20132.1(AR):g.3013C>G chrX 66548510 66548511 ARdb_0627 + M20132.1(AR):g.858G>A chrX 66548390 66548391 ARdb_0417_2 + M20132.1(AR):g.738del chrX 66688910 66688911 ARdb_0362 + M20132.1(AR):g.2166A>C chrX 66714495 66714496 ARdb_0581 + M20132.1(AR):g.2476A>T chrX 66720472 66720473 ARdb_0460 + M20132.1(AR):g.2665T>C chrX 66726636 66726637 ARdb_0286 + M20132.1(AR):g.3055T>C chrX 66726654 66726655 ARdb_0646 + M20132.1(AR):g.3073C>G chrX 66724771 66724772 ARdb_0648 + M20132.1(AR):g.2754C>T chrX 66548713 66548714 ARdb_0706 + AR:p.S232L chrX 66714450 66714451 ARdb_0656 + M20132.1(AR):g.2431A>T chrX 66714512 66714513 ARdb_0525 + M20132.1(AR):g.2493C>G chrX 66714514 66714515 ARdb_0578 + M20132.1(AR):g.2495G>A chrX 66720365 66720366 ARdb_0628 + M20132.1(AR):g.2558C>T chrX 66720478 66720479 ARdb_0666 + M20132.1(AR):g.2671T>A chrX 66548202 66548203 ARdb_0009 + M20132.1(AR):g.550A>G chrX 66714526 66714527 ARdb_0678 + AR:p.V715X chrX 66725698 66725699 ARdb_0501 + M20132.1(AR):g.2818A>G chrX 66549581 66549582 ARdb_0568 + M20132.1(AR):g.1932G>A chrX 66549582 66549583 ARdb_0569 + M20132.1(AR):g.1933G>A chrX 66549246 66549247 ARdb_0690 + M20132.1(AR):g.1594G>A chrX 66549397 66549398 ARdb_0438 + M20132.1(AR):g.1745del chrX 66726557 66726558 ARdb_0696 + M20132.1(AR):g.2976G>C chrX 66549482 66549483 ARdb_0440 + M20132.1(AR):g.1833G>A chrX 66548713 66548714 ARdb_0531 + AR:p.N233K chrX 66714266 66714267 ARdb_0711 + M20132.1(AR):g.2247C>T chrX 66714494 66714495 ARdb_0559 + M20132.1(AR):g.2475A>T chrX 66720396 66720397 ARdb_0519 + M20132.1(AR):g.2589G>C chrX 66720430 66720431 ARdb_0715 + AR:p.F754L chrX 66725810 66725811 ARdb_0470 + M20132.1(AR):g.2930C>G chrX 66646245 66646246 ARdb_0719 + M20132.1(AR):g.2103G>C chrX 66688902 66688903 ARdb_0720 + M20132.1(AR):g.2158del chrX 66688933 66688935 ARdb_0721 + M20132.1(AR):g.2189_2190insA chrX 66688947 66688948 ARdb_0722 + M20132.1(AR):g.2203G>A chrX 66714420 66714421 ARdb_0723 + M20132.1(AR):g.2401T>C chrX 66714425 66714426 ARdb_0724 + M20132.1(AR):g.2406C>G chrX 66714482 66714483 ARdb_0448 + M20132.1(AR):g.2463C>T chrX 66714482 66714483 ARdb_0518 + M20132.1(AR):g.2463C>A chrX 66720378 66720379 ARdb_0726 + M20132.1(AR):g.2571A>T chrX 66720405 66720406 ARdb_0727 + M20132.1(AR):g.2598G>T chrX 66720451 66720452 ARdb_0729 + M20132.1(AR):g.2644T>C chrX 66720462 66720463 ARdb_0520 + M20132.1(AR):g.2655G>T chrX 66725760 66725761 ARdb_0385 + M20132.1(AR):g.2880C>G chrX 66724743 66724744 ARdb_0735 + AR:p.788dupR chrX 66725770 66725771 ARdb_0736 + M20132.1(AR):g.2890C>A chrX 66725778 66725779 ARdb_0494 + M20132.1(AR):g.2898A>G chrX 66725843 66725845 ARdb_0601 + M20132.1(AR):g.2963_2964ins chrX 37938993 37938994 RPGR_00203 - U57629.1(RPGR):c.28+1A>G chrX 37938989 37938990 RPGR_00204 - U57629.1(RPGR):c.28+5G>A chrX 37939008 37939009 RPGR_00268 - U57629.1(RPGR):c.29-15G>A chrX 37914581 37914583 RPGR_00088 - U57629.1(RPGR):c.1088_1089insT chrX 37914577 37914579 RPGR_00089 - U57629.1(RPGR):c.1092_1093insT chrX 37914570 37914571 RPGR_00090 - U57629.1(RPGR):c.1100delC chrX 37914553 37914554 RPGR_00289 - U57629.1(RPGR):c.1117A>T chrX 37914550 37914551 RPGR_00026 - U57629.1(RPGR):c.1120G>T chrX 37914535 37914536 RPGR_00290 - U57629.1(RPGR):c.1135G>T chrX 37914506 37914507 RPGR_00210 - U57629.1(RPGR):c.1164G>A chrX 37914506 37914507 RPGR_00211 - U57629.1(RPGR):c.1164G>T chrX 37914495 37914496 RPGR_00291 - U57629.1(RPGR):c.1175delC chrX 37914491 37914492 RPGR_00340 - U57629.1(RPGR):c.1179T>G chrX 37914453 37914455 RPGR_00091 - U57629.1(RPGR):c.1216_1217delCT chrX 37914436 37914437 RPGR_00027 - U57629.1(RPGR):c.1234C>T chrX 37914431 37914433 RPGR_00092 - U57629.1(RPGR):c.1238_1239insAG chrX 37914427 37914429 RPGR_00093 - U57629.1(RPGR):c.1242_1243delGA chrX 37914423 37914424 RPGR_00219 - U57629.1(RPGR):c.1245+2T>C chrX 37912923 37912924 RPGR_00319 - U57629.1(RPGR):c.1246-2A>C chrX 37912888 37912907 RPGR_00094 - U57629.1(RPGR):c.1261_1279del19 chrX 37912893 37912894 RPGR_00212 - U57629.1(RPGR):c.1274G>A chrX 37912876 37912877 RPGR_00213 - U57629.1(RPGR):c.1291A>G chrX 37912872 37912873 RPGR_00214 - U57629.1(RPGR):c.1295A>G chrX 37912860 37912861 RPGR_00028 - U57629.1(RPGR):c.1307G>A chrX 37912822 37912823 RPGR_00029 - U57629.1(RPGR):c.1345C>T chrX 37912800 37912801 RPGR_00215 - U57629.1(RPGR):c.1367A>G chrX 37912794 37912796 RPGR_00095 - U57629.1(RPGR):c.1372_1373delAG chrX 37912790 37912792 RPGR_00096 - U57629.1(RPGR):c.1376_1377delTC chrX 37912768 37912769 RPGR_00338 - U57629.1(RPGR):c.1399C>T chrX 37912762 37912766 RPGR_00097 - U57629.1(RPGR):c.1402_1405delCCAG chrX 37912751 37912752 RPGR_00320 - U57629.1(RPGR):c.1414+2T>A chrX 37906891 37906892 RPGR_00098 - U57629.1(RPGR):c.1477delC chrX 37906623 37906624 RPGR_00277 - U57629.1(RPGR):c.1507-130T>C chrX 37906594 37906595 RPGR_00275 - U57629.1(RPGR):c.1507-101A>T chrX 37906594 37906598 RPGR_00274 - U57629.1(RPGR):c.1507-101_1507-104del4 chrX 37906590 37906591 RPGR_00281 - U57629.1(RPGR):c.1507-97T>C chrX 37906561 37906562 RPGR_00278 - U57629.1(RPGR):c.1507-68T>C chrX 37906487 37906489 RPGR_00099 - U57629.1(RPGR):c.1512_1513delCA chrX 37906427 37906428 RPGR_00321 - U57629.1(RPGR):c.1572+1G>A chrX 37906417 37906418 RPGR_00282 - U57629.1(RPGR):c.1572+11A>G chrX 37903518 37903519 RPGR_00220 - U57629.1(RPGR):c.1573-8A>G chrX 37903513 37903514 RPGR_00337 - U57629.1(RPGR):c.1573-3C>G chrX 37903512 37903513 RPGR_00221 - U57629.1(RPGR):c.1573-2A>G chrX 37903511 37903512 RPGR_00222 - U57629.1(RPGR):c.1573-1G>A chrX 37903505 37903508 RPGR_00216 - U57629.1(RPGR):c.1576_1578delCAA chrX 37903498 37903502 RPGR_00100 - U57629.1(RPGR):c.1582_1585del4 chrX 37903485 37903486 RPGR_00217 - U57629.1(RPGR):c.1598C>T chrX 37903454 37903456 RPGR_00342 - U57629.1(RPGR):c.1628_1629insAACGATGA chrX 37903397 37903399 RPGR_00101 - U57629.1(RPGR):c.1685_1686delAT chrX 37903396 37903397 RPGR_00218 - U57629.1(RPGR):c.1687G>A chrX 37903336 37903337 RPGR_00030 - U57629.1(RPGR):c.1747G>T chrX 37890752 37890753 RPGR_00283 - U57629.1(RPGR):c.2092-137A>T chrX 37890512 37890513 RPGR_00284 - U57629.1(RPGR):c.2149+46C>T chrX 37888844 37888845 RPGR_00285 - U57629.1(RPGR):c.2241+11T>C chrX 37938989 37938990 RPGR_00067 - U57629.1(RPGR):c.33delG chrX 37938921 37938922 RPGR_00068 - U57629.1(RPGR):c.101delA chrX 37938900 37938901 RPGR_00276 - U57629.1(RPGR):c.122C>G chrX 37938895 37938896 RPGR_00001 - U57629.1(RPGR):c.127G>A chrX 37938894 37938895 RPGR_00002 - U57629.1(RPGR):c.128G>A chrX 37938868 37938869 RPGR_00003 - U57629.1(RPGR):c.154G>T chrX 37938416 37938417 RPGR_00206 - U57629.1(RPGR):c.155-2A>G chrX 37938415 37938416 RPGR_00205 - U57629.1(RPGR):c.155-1G>A chrX 37938390 37938391 RPGR_00004 - U57629.1(RPGR):c.179G>T chrX 37938331 37938333 RPGR_00070 - U57629.1(RPGR):c.237_238delAT chrX 37936564 37936565 RPGR_00207 - U57629.1(RPGR):c.248-6T>A chrX 37936529 37936533 RPGR_00071 - U57629.1(RPGR):c.274_277dup4 chrX 37936512 37936513 RPGR_00005 - U57629.1(RPGR):c.294C>A chrX 37936510 37936511 RPGR_00006 - U57629.1(RPGR):c.296C>A chrX 37936495 37936496 RPGR_00208 - U57629.1(RPGR):c.310+1G>A chrX 37936495 37936496 RPGR_00209 - U57629.1(RPGR):c.310+1G>C chrX 37934439 37934445 RPGR_00279 - U57629.1(RPGR):c.323_328del6 chrX 37934417 37934418 RPGR_00280 - U57629.1(RPGR):c.350G>A chrX 37934411 37934412 RPGR_00073 - U57629.1(RPGR):c.356delT chrX 37934388 37934389 RPGR_00007 - U57629.1(RPGR):c.379A>G chrX 37934377 37934378 RPGR_00008 - U57629.1(RPGR):c.390T>G chrX 37934352 37934353 RPGR_00009 - U57629.1(RPGR):c.415G>T chrX 37934312 37934313 RPGR_00010 - U57629.1(RPGR):c.455C>T chrX 37932921 37932923 RPGR_00074 - U57629.1(RPGR):c.482_483delTT chrX 37932918 37932919 RPGR_00075 - U57629.1(RPGR):c.486delT chrX 37932912 37932913 RPGR_00011 - U57629.1(RPGR):c.492G>A chrX 37932887 37932888 RPGR_00012 - U57629.1(RPGR):c.517G>C chrX 37932823 37932824 RPGR_00013 - U57629.1(RPGR):c.581G>A chrX 37932799 37932800 RPGR_00014 - U57629.1(RPGR):c.605C>A chrX 37932769 37932770 RPGR_00271 - U57629.1(RPGR):c.619+16A>G chrX 37926283 37926284 RPGR_00269 - U57629.1(RPGR):c.620-41T>C chrX 37926223 37926234 RPGR_00077 - U57629.1(RPGR):c.629_639del11 chrX 37926218 37926219 RPGR_00015 - U57629.1(RPGR):c.644G>T chrX 37926138 37926166 RPGR_00078 - U57629.1(RPGR):c.697_724del28 chrX 37926159 37926160 RPGR_00016 - U57629.1(RPGR):c.703C>T chrX 37926156 37926157 RPGR_00031 - U57629.1(RPGR):c.706C>T chrX 37926132 37926133 RPGR_00032 - U57629.1(RPGR):c.730A>T chrX 37926115 37926116 RPGR_00080 - U57629.1(RPGR):c.747delC chrX 37926114 37926115 RPGR_00017 - U57629.1(RPGR):c.748T>C chrX 37926113 37926114 RPGR_00018 - U57629.1(RPGR):c.749G>A chrX 37926112 37926114 RPGR_00079 - U57629.1(RPGR):c.749_750delGT chrX 37926098 37926099 RPGR_00341 - U57629.1(RPGR):c.764C>T chrX 37926089 37926092 RPGR_00081 - U57629.1(RPGR):c.771_773delTCT chrX 37926083 37926084 RPGR_00318 - U57629.1(RPGR):c.778+1G>C chrX 37920251 37920253 RPGR_00082 - U57629.1(RPGR):c.786_787delTG chrX 37920239 37920240 RPGR_00019 - U57629.1(RPGR):c.799G>A chrX 37920238 37920239 RPGR_00286 - U57629.1(RPGR):c.800G>A chrX 37920224 37920225 RPGR_00287 - U57629.1(RPGR):c.814G>A chrX 37920221 37920222 RPGR_00288 - U57629.1(RPGR):c.817C>T chrX 37920215 37920216 RPGR_00020 - U57629.1(RPGR):c.823G>A chrX 37920201 37920202 RPGR_00083 - U57629.1(RPGR):c.837delT chrX 37920196 37920201 RPGR_00084 - U57629.1(RPGR):c.838_842del5 chrX 37920173 37920174 RPGR_00021 - U57629.1(RPGR):c.865A>G chrX 37920169 37920170 RPGR_00085 - U57629.1(RPGR):c.869delA chrX 37920138 37920153 RPGR_00086 - U57629.1(RPGR):c.886_900del15 chrX 37920146 37920148 RPGR_00087 - U57629.1(RPGR):c.891_892delAA chrX 37920134 37920135 RPGR_00022 - U57629.1(RPGR):c.904T>C chrX 37920133 37920134 RPGR_00023 - U57629.1(RPGR):c.905G>A chrX 37920104 37920105 RPGR_00024 - U57629.1(RPGR):c.934G>A chrX 37920104 37920105 RPGR_00025 - U57629.1(RPGR):c.934G>T chrX 37916817 37916818 RPGR_00033 - U57629.1(RPGR):c.958G>A chrX 37916795 37916796 RPGR_00034 - U57629.1(RPGR):c.980T>G chrX 37916781 37916782 RPGR_00035 - U57629.1(RPGR):c.994G>T chrX 37916714 37916715 RPGR_00339 - U57629.1(RPGR):c.1059+2T>C chrX 37916353 37916354 RPGR_00336 - U57629.1(RPGR):c.1059+363G>A chrX 37902703 37902704 RPGR_00036 - BK005711.1(RPGR):c.1765G>T chrX 37902632 37902634 RPGR_00102 - BK005711.1(RPGR):c.1835_1836insA chrX 37902598 37902600 RPGR_00106 - BK005711.1(RPGR):c.1869_1870delAG chrX 37902595 37902597 RPGR_00107 - BK005711.1(RPGR):c.1872_1873delGA chrX 37902541 37902543 RPGR_00108 - BK005711.1(RPGR):c.1926_1927insA chrX 37902540 37902541 RPGR_00037 - BK005711.1(RPGR):c.1928C>G chrX 37902529 37902531 RPGR_00109 - BK005711.1(RPGR):c.1938_1939insAGAGG chrX 37902515 37902517 RPGR_00110 - BK005711.1(RPGR):c.1952_1953insT chrX 37902466 37902467 RPGR_00111 - BK005711.1(RPGR):c.2002delC chrX 37902461 37902462 RPGR_00038 - BK005711.1(RPGR):c.2007G>A chrX 37902340 37902420 RPGR_00112 - BK005711.1(RPGR):c.2049_2128dup80 chrX 37902388 37902389 RPGR_00039 - BK005711.1(RPGR):c.2080A>T chrX 37902255 37902364 RPGR_00113 - BK005711.1(RPGR):c.2105_2213dup109 chrX 37902358 37902360 RPGR_00114 - BK005711.1(RPGR):c.2109_2110insGAAG chrX 37902346 37902347 RPGR_00040 - BK005711.1(RPGR):c.2122G>T chrX 37902252 37902325 RPGR_00115 - BK005711.1(RPGR):c.2144_2216dup73 chrX 37902322 37902323 RPGR_00041 - BK005711.1(RPGR):c.2146G>T chrX 37902319 37902321 RPGR_00345 - BK005711.1(RPGR):c.2148_2149ins356 chrX 37902315 37902316 RPGR_00332 - BK005711.1(RPGR):c.2153delG chrX 37902312 37902314 RPGR_00116 - BK005711.1(RPGR):c.2155_2156insC chrX 37902301 37902302 RPGR_00117 - BK005711.1(RPGR):c.2167delA chrX 37902297 37902298 RPGR_00343 - BK005711.1(RPGR):c.2171delA chrX 37902295 37902296 RPGR_00042 - BK005711.1(RPGR):c.2173C>T chrX 37902292 37902293 RPGR_00043 - BK005711.1(RPGR):c.2176G>T chrX 37902283 37902284 RPGR_00118 - BK005711.1(RPGR):c.2185delG chrX 37902281 37902282 RPGR_00119 - BK005711.1(RPGR):c.2187delG chrX 37902279 37902280 RPGR_00292 - BK005711.1(RPGR):c.2189delG chrX 37902250 37902251 RPGR_00044 - BK005711.1(RPGR):c.2218G>T chrX 37902234 37902236 RPGR_00120 - BK005711.1(RPGR):c.2233_2234delAG chrX 37902233 37902235 RPGR_00121 - BK005711.1(RPGR):c.2234_2235delGA chrX 37902231 37902235 RPGR_00122 - BK005711.1(RPGR):c.2234_2237delGAGA chrX 37902232 37902234 RPGR_00123 - BK005711.1(RPGR):c.2235_2236delAG chrX 37902231 37902233 RPGR_00124 - BK005711.1(RPGR):c.2236_2237delGA chrX 37902226 37902228 RPGR_00293 - BK005711.1(RPGR):c.2241_2242delGG chrX 37902223 37902224 RPGR_00045 - BK005711.1(RPGR):c.2245G>T chrX 37902213 37902217 RPGR_00125 - BK005711.1(RPGR):c.2252_2255delAGGA chrX 37902209 37902213 RPGR_00126 - BK005711.1(RPGR):c.2256_2259delGGGA chrX 37902208 37902212 RPGR_00127 - BK005711.1(RPGR):c.2257_2260delGGAG chrX 37902208 37902209 RPGR_00046 - BK005711.1(RPGR):c.2260G>T chrX 37902197 37902199 RPGR_00128 - BK005711.1(RPGR):c.2270_2271delAG chrX 37902175 37902176 RPGR_00047 - BK005711.1(RPGR):c.2293G>T chrX 37902163 37902164 RPGR_00294 - BK005711.1(RPGR):c.2305G>A chrX 37902157 37902158 RPGR_00295 - BK005711.1(RPGR):c.2311delG chrX 37902148 37902150 RPGR_00296 - BK005711.1(RPGR):c.2319_2320delAG chrX 37902144 37902146 RPGR_00129 - BK005711.1(RPGR):c.2323_2324delAG chrX 37902128 37902129 RPGR_00130 - BK005711.1(RPGR):c.2340delA chrX 37902127 37902129 RPGR_00131 - BK005711.1(RPGR):c.2340_2341delAG chrX 37902110 37902112 RPGR_00132 - BK005711.1(RPGR):c.2357_2358delAA chrX 37902084 37902085 RPGR_00133 - BK005711.1(RPGR):c.2384delA chrX 37902070 37902071 RPGR_00134 - BK005711.1(RPGR):c.2398delG chrX 37902067 37902069 RPGR_00135 - BK005711.1(RPGR):c.2400_2401delAA chrX 37902067 37902068 RPGR_00223 - BK005711.1(RPGR):c.2401A>G chrX 37902064 37902066 RPGR_00136 - BK005711.1(RPGR):c.2403_2404delAG chrX 37902062 37902066 RPGR_00137 - BK005711.1(RPGR):c.2403_2406delAGAG chrX 37902063 37902065 RPGR_00138 - BK005711.1(RPGR):c.2404_2405delGA chrX 37902062 37902064 RPGR_00139 - BK005711.1(RPGR):c.2405_2406delAG chrX 37902055 37902057 RPGR_00140 - BK005711.1(RPGR):c.2412_2413delAG chrX 37902044 37902046 RPGR_00141 - BK005711.1(RPGR):c.2423_2424delAA chrX 37902042 37902044 RPGR_00142 - BK005711.1(RPGR):c.2425_2426delGA chrX 37902041 37902043 RPGR_00143 - BK005711.1(RPGR):c.2426_2427delAG chrX 37902031 37902032 RPGR_00048 - BK005711.1(RPGR):c.2437G>T chrX 37902023 37902027 RPGR_00144 - BK005711.1(RPGR):c.2442_2445delAGAG chrX 37902007 37902022 RPGR_00238 - BK005711.1(RPGR):c.2447_2461del15 chrX 37902000 37902005 RPGR_00297 - BK005711.1(RPGR):c.2464_2468delGGGAA chrX 37902001 37902002 RPGR_00298 - BK005711.1(RPGR):c.2467A>T chrX 37901983 37901997 RPGR_00299 - BK005711.1(RPGR):c.2472_2485del14 chrX 37901994 37901996 RPGR_00300 - BK005711.1(RPGR):c.2473_2474delGA chrX 37901982 37901996 RPGR_00301 - BK005711.1(RPGR):c.2473_2486del14 chrX 37901991 37901993 RPGR_00145 - BK005711.1(RPGR):c.2476_2477delAG chrX 37901948 37901989 RPGR_00146 - BK005711.1(RPGR):c.2480_2520dup41 chrX 37901977 37901978 RPGR_00049 - BK005711.1(RPGR):c.2491G>T chrX 37901974 37901976 RPGR_00147 - BK005711.1(RPGR):c.2493_2494delGG chrX 37901974 37901975 RPGR_00302 - BK005711.1(RPGR):c.2494G>T chrX 37901952 37901974 RPGR_00148 - BK005711.1(RPGR):c.2495_2516del22 chrX 37901969 37901970 RPGR_00149 - BK005711.1(RPGR):c.2499delT chrX 37901967 37901968 RPGR_00150 - BK005711.1(RPGR):c.2501delA chrX 37901962 37901964 RPGR_00151 - BK005711.1(RPGR):c.2505_2506delGG chrX 37901962 37901963 RPGR_00152 - BK005711.1(RPGR):c.2506delG chrX 37901962 37901963 RPGR_00303 - BK005711.1(RPGR):c.2506dupG chrX 37901948 37901953 RPGR_00154 - BK005711.1(RPGR):c.2516_2520delAAGGG chrX 37901950 37901952 RPGR_00155 - BK005711.1(RPGR):c.2517_2518delAG chrX 37901946 37901947 RPGR_00156 - BK005711.1(RPGR):c.2522delA chrX 37901939 37901940 RPGR_00157 - BK005711.1(RPGR):c.2529delA chrX 37901932 37901933 RPGR_00050 - BK005711.1(RPGR):c.2536G>T chrX 37901907 37901928 RPGR_00226 - BK005711.1(RPGR):c.2541_2561del21 chrX 37901925 37901926 RPGR_00158 - BK005711.1(RPGR):c.2543delA chrX 37901920 37901921 RPGR_00344 - BK005711.1(RPGR):c.2548delG chrX 37901801 37901921 RPGR_00346 - BK005711.1(RPGR):c.2548_2667del120insAGGGAGAA chrX 37901913 37901915 RPGR_00159 - BK005711.1(RPGR):c.2554_2555insG chrX 37901911 37901912 RPGR_00051 - BK005711.1(RPGR):c.2557G>T chrX 37901896 37901898 RPGR_00160 - BK005711.1(RPGR):c.2571_2572delAG chrX 37901881 37901883 RPGR_00161 - BK005711.1(RPGR):c.2586_2587delGG chrX 37901878 37901879 RPGR_00052 - BK005711.1(RPGR):c.2590G>T chrX 37901866 37901868 RPGR_00162 - BK005711.1(RPGR):c.2601_2602delGG chrX 37901848 37901863 RPGR_00227 - BK005711.1(RPGR):c.2606_2620del15 chrX 37901857 37901861 RPGR_00304 - BK005711.1(RPGR):c.2608_2611delGAAG chrX 37901854 37901856 RPGR_00163 - BK005711.1(RPGR):c.2613_2614delGG chrX 37901854 37901856 RPGR_00164 - BK005711.1(RPGR):c.2613_2614dupGG chrX 37901852 37901854 RPGR_00228 - BK005711.1(RPGR):c.2615_2616ins21 chrX 37901842 37901844 RPGR_00165 - BK005711.1(RPGR):c.2625_2626insA chrX 37901839 37901841 RPGR_00166 - BK005711.1(RPGR):c.2628_2629delGG chrX 37901839 37901840 RPGR_00053 - BK005711.1(RPGR):c.2629G>T chrX 37901833 37901834 RPGR_00305 - BK005711.1(RPGR):c.2635dupG chrX 37901818 37901819 RPGR_00054 - BK005711.1(RPGR):c.2650G>T chrX 37901812 37901814 RPGR_00167 - BK005711.1(RPGR):c.2655_2656delGG chrX 37901806 37901810 RPGR_00168 - BK005711.1(RPGR):c.2659_2662delGGAG chrX 37901803 37901804 RPGR_00231 - BK005711.1(RPGR):c.2665G>T chrX 37901801 37901804 RPGR_00229 - BK005711.1(RPGR):c.2665_2667delGAG chrX 37901799 37901802 RPGR_00230 - BK005711.1(RPGR):c.2667_2669delGGA chrX 37901788 37901790 RPGR_00169 - BK005711.1(RPGR):c.2679_2680delGG chrX 37901785 37901786 RPGR_00055 - BK005711.1(RPGR):c.2683G>T chrX 37901761 37901762 RPGR_00056 - BK005711.1(RPGR):c.2707G>T chrX 37901753 37901755 RPGR_00170 - BK005711.1(RPGR):c.2714_2715delAA chrX 37901752 37901754 RPGR_00171 - BK005711.1(RPGR):c.2715_2716insCCTC chrX 37901752 37901753 RPGR_00057 - BK005711.1(RPGR):c.2716G>T chrX 37901749 37901752 RPGR_00232 - BK005711.1(RPGR):c.2717_2719delAGG chrX 37901737 37901739 RPGR_00172 - BK005711.1(RPGR):c.2730_2731delGG chrX 37901707 37901709 RPGR_00173 - BK005711.1(RPGR):c.2760_2761delAG chrX 37901704 37901706 RPGR_00174 - BK005711.1(RPGR):c.2763_2764delGG chrX 37901686 37901687 RPGR_00058 - BK005711.1(RPGR):c.2782G>T chrX 37901677 37901679 RPGR_00175 - BK005711.1(RPGR):c.2790_2791delGG chrX 37901676 37901677 RPGR_00306 - BK005711.1(RPGR):c.2792delA chrX 37901668 37901669 RPGR_00059 - BK005711.1(RPGR):c.2800G>T chrX 37901644 37901665 RPGR_00233 - BK005711.1(RPGR):c.2804_2824dup21 chrX 37901656 37901657 RPGR_00060 - BK005711.1(RPGR):c.2812G>T chrX 37901628 37901633 RPGR_00176 - BK005711.1(RPGR):c.2836_2840delGGGGA chrX 37901629 37901631 RPGR_00307 - BK005711.1(RPGR):c.2838_2839delGG chrX 37901628 37901629 RPGR_00308 - BK005711.1(RPGR):c.2840delA chrX 37901624 37901629 RPGR_00309 - BK005711.1(RPGR):c.2840_2844del5 chrX 37901623 37901624 RPGR_00177 - BK005711.1(RPGR):c.2845delG chrX 37901620 37901621 RPGR_00061 - BK005711.1(RPGR):c.2848G>T chrX 37901614 37901618 RPGR_00178 - BK005711.1(RPGR):c.2851_2854delGAGG chrX 37901606 37901607 RPGR_00179 - BK005711.1(RPGR):c.2862dupA chrX 37901602 37901603 RPGR_00180 - BK005711.1(RPGR):c.2866delG chrX 37901601 37901602 RPGR_00311 - BK005711.1(RPGR):c.2867delA chrX 37901596 37901597 RPGR_00062 - BK005711.1(RPGR):c.2872G>T chrX 37901584 37901585 RPGR_00235 - BK005711.1(RPGR):c.2884G>A chrX 37901575 37901577 RPGR_00181 - BK005711.1(RPGR):c.2892_2893delGG chrX 37901575 37901576 RPGR_00310 - BK005711.1(RPGR):c.2893delG chrX 37901574 37901575 RPGR_00182 - BK005711.1(RPGR):c.2894delA chrX 37901569 37901570 RPGR_00183 - BK005711.1(RPGR):c.2899delG chrX 37901537 37901561 RPGR_00312 - BK005711.1(RPGR):c.2908_2931dup24 chrX 37901551 37901553 RPGR_00184 - BK005711.1(RPGR):c.2916_2917delGG chrX 37901551 37901552 RPGR_00063 - BK005711.1(RPGR):c.2917G>T chrX 37901530 37901551 RPGR_00237 - BK005711.1(RPGR):c.2918_2938dup21 chrX 37901549 37901550 RPGR_00335 - BK005711.1(RPGR):c.2919delA chrX 37901539 37901540 RPGR_00064 - BK005711.1(RPGR):c.2929G>T chrX 37901532 37901534 RPGR_00185 - BK005711.1(RPGR):c.2935_2936delGG chrX 37901524 37901525 RPGR_00186 - BK005711.1(RPGR):c.2944delG chrX 37901490 37901517 RPGR_00187 - BK005711.1(RPGR):c.2952_2978del27insT chrX 37901503 37901505 RPGR_00314 - BK005711.1(RPGR):c.2964_2965delGG chrX 37901483 37901485 RPGR_00188 - BK005711.1(RPGR):c.2984_2985delGG chrX 37901482 37901484 RPGR_00334 - BK005711.1(RPGR):c.2985_2986delGG chrX 37901472 37901477 RPGR_00189 - BK005711.1(RPGR):c.2992_2996delGAAGG chrX 37901472 37901474 RPGR_00190 - BK005711.1(RPGR):c.2995_2996delGG chrX 37901470 37901472 RPGR_00191 - BK005711.1(RPGR):c.2997_2998delGG chrX 37901460 37901462 RPGR_00192 - BK005711.1(RPGR):c.3007_3008delGG chrX 37901458 37901462 RPGR_00193 - BK005711.1(RPGR):c.3007_3010delGGAG chrX 37901456 37901458 RPGR_00194 - BK005711.1(RPGR):c.3011_3012delAG chrX 37901440 37901442 RPGR_00333 - BK005711.1(RPGR):c.3027_3028delGG chrX 37901417 37901419 RPGR_00195 - BK005711.1(RPGR):c.3050_3051delAG chrX 37901406 37901418 RPGR_00239 - BK005711.1(RPGR):c.3051_3062del12 chrX 37901410 37901411 RPGR_00196 - BK005711.1(RPGR):c.3058delG chrX 37901397 37901409 RPGR_00240 - BK005711.1(RPGR):c.3060_3071del12 chrX 37901396 37901408 RPGR_00241 - BK005711.1(RPGR):c.3061_3072del12 chrX 37901383 37901395 RPGR_00242 - BK005711.1(RPGR):c.3074_3085del12 chrX 37901377 37901379 RPGR_00197 - BK005711.1(RPGR):c.3090_3091delAG chrX 37901376 37901377 RPGR_00198 - BK005711.1(RPGR):c.3092delA chrX 37901375 37901377 RPGR_00199 - BK005711.1(RPGR):c.3092_3093delAG chrX 37901371 37901373 RPGR_00200 - BK005711.1(RPGR):c.3096_3097delGG chrX 37901371 37901372 RPGR_00201 - BK005711.1(RPGR):c.3097delG chrX 37901292 37901294 RPGR_00315 - BK005711.1(RPGR):c.3175_3176delAG chrX 37901257 37901258 RPGR_00065 - BK005711.1(RPGR):c.3211G>T chrX 37901249 37901250 RPGR_00243 - BK005711.1(RPGR):c.3219C>T chrX 37901237 37901238 RPGR_00244 - BK005711.1(RPGR):c.3231T>A chrX 37901236 37901237 RPGR_00066 - BK005711.1(RPGR):c.3232G>T chrX 37901149 37901153 RPGR_00202 - BK005711.1(RPGR):c.3316_3319delAAGT chrX 37901073 37901075 RPGR_00317 - BK005711.1(RPGR):c.3394_3395delAA chrX 37901072 37901073 RPGR_00245 - BK005711.1(RPGR):c.3396T>C chrX 37901038 37901039 RPGR_00246 - BK005711.1(RPGR):c.3430A>G chr9 40772871 40773178 RIP_Alu_chr9_040_02 - NC_000009.10:g.41001833_41002140del chr1 1679862 1679864 RIP_Alu_chr1_001_01 - NC_000001.9:g.1637561_1637562ins chr1 4215511 4215513 RIP_Alu_chr1_004_01 - NC_000001.9:g.4204999_4205000ins chr1 14458062 14458064 RIP_Alu_chr1_014_01 - NC_000001.9:g.14585344_14585345ins chr1 24674117 24674387 RIP_Alu_chr1_024_01 + NC_000001.9:g.24801399_24801668del chr1 26173963 26174277 RIP_Alu_chr1_026_01 - NC_000001.9:g.26362409_26362722del chr1 27488269 27488583 RIP_Alu_chr1_027_01 + NC_000001.9:g.27676715_27677028del chr1 27931948 27932250 RIP_Alu_chr1_027_02 + NC_000001.9:g.28120394_28120695del chr1 28305593 28306043 RIP_Alu_chr1_028_01 + NC_000001.9:g.28494039_28494488del chr1 36143787 36143789 RIP_Alu_chr1_036_01 + NC_000001.9:g.36247282_36247283ins chr1 43526562 43526884 RIP_Alu_chr1_043_01 + NC_000001.9:g.43630057_43630378del chr1 45464801 45464803 RIP_Alu_chr1_045_01 + NC_000001.9:g.45568296_45568297ins chr1 46078139 46078456 RIP_Alu_chr1_046_01 - NC_000001.9:g.46138707_46139023del chr1 47254254 47254552 RIP_Alu_chr1_047_01 + NC_000001.9:g.47314822_47315119del chr1 56113313 56113624 RIP_Alu_chr1_056_01 + NC_000001.9:g.56173881_56174191del chr1 56954645 56954967 RIP_Alu_chr1_056_02 + NC_000001.9:g.57015213_57015534del chr1 58055243 58055556 RIP_Alu_chr1_058_02 - NC_000001.9:g.58115811_58116123del chr1 58771646 58771962 RIP_Alu_chr1_058_01 - NC_000001.9:g.58832214_58832529del chr1 62102622 62102959 RIP_Alu_chr1_062_02 + NC_000001.9:g.62163190_62163526del chr1 62863848 62864179 RIP_Alu_chr1_062_01 - NC_000001.9:g.62924416_62924746del chr1 63173971 63173973 RIP_Alu_chr1_063_01 + NC_000001.9:g.63234539_63234540ins chr1 65847740 65848064 RIP_Alu_chr1_065_01 + NC_000001.9:g.65908308_65908631del chr1 65975943 65976263 RIP_Alu_chr1_065_02 - NC_000001.9:g.66036511_66036830del chr1 66913242 66913557 RIP_Alu_chr1_066_01 + NC_000001.9:g.66973810_66974124del chr1 67725893 67725895 RIP_Alu_chr1_067_01 - NC_000001.9:g.67786461_67786462ins chr1 69519024 69519332 RIP_Alu_chr1_069_01 + NC_000001.9:g.69579592_69579899del chr1 70480147 70480455 RIP_Alu_chr1_070_01 + NC_000001.9:g.70540715_70541022del chr1 70658225 70658541 RIP_Alu_chr1_070_02 - NC_000001.9:g.70718793_70719108del chr1 71453352 71453650 RIP_Alu_chr1_071_01 - NC_000001.9:g.71513920_71514217del chr1 75723901 75724216 RIP_Alu_chr1_075_01 - NC_000001.9:g.75784469_75784783del chr1 76812395 76812670 RIP_Alu_chr1_076_01 - NC_000001.9:g.76872963_76873237del chr1 77477014 77477016 RIP_Alu_chr1_077_01 + NC_000001.9:g.77537582_77537583ins chr1 78255610 78255916 RIP_Alu_chr1_078_01 + NC_000001.9:g.78316178_78316483del chr1 79113546 79113851 RIP_Alu_chr1_079_02 + NC_000001.9:g.79174114_79174418del chr1 79826205 79826510 RIP_Alu_chr1_079_01 - NC_000001.9:g.79886773_79887077del chr1 80011124 80011126 RIP_Alu_chr1_080_02 - NC_000001.9:g.80071692_80071693ins chr1 80906373 80906689 RIP_Alu_chr1_080_01 + NC_000001.9:g.80966941_80967256del chr1 81063549 81063551 RIP_Alu_chr1_081_01 + NC_000001.9:g.81124117_81124118ins chr1 82754674 82754985 RIP_Alu_chr1_082_01 - NC_000001.9:g.82815242_82815552del chr1 85460654 85460971 RIP_Alu_chr1_085_01 - NC_000001.9:g.85521222_85521538del chr1 86117825 86118142 RIP_Alu_chr1_086_02 + NC_000001.9:g.86178393_86178709del chr1 86594467 86594773 RIP_Alu_chr1_086_01 - NC_000001.9:g.86655035_86655340del chr1 87549572 87549851 RIP_Alu_chr1_087_01 - NC_000001.9:g.87610140_87610418del chr1 87654738 87654740 RIP_Alu_chr1_087_02 - NC_000001.9:g.87715306_87715307ins chr1 88827752 88827754 RIP_Alu_chr1_088_01 + NC_000001.9:g.88888320_88888321ins chr1 89504671 89504673 RIP_Alu_chr1_089_01 - NC_000001.9:g.89565239_89565240ins chr1 91336807 91337077 RIP_Alu_chr1_091_01 + NC_000001.9:g.91397375_91397644del chr1 93210246 93210248 RIP_Alu_chr1_093_02 - NC_000001.9:g.93270814_93270815ins chr1 93963487 93963792 RIP_Alu_chr1_093_01 + NC_000001.9:g.94024055_94024359del chr1 95402544 95402850 RIP_Alu_chr1_095_01 + NC_000001.9:g.95463112_95463417del chr1 98317317 98317319 RIP_Alu_chr1_098_01 - NC_000001.9:g.98377885_98377886ins chr1 102759712 102760029 RIP_Alu_chr1_102_01 + NC_000001.9:g.102820280_102820596del chr1 102808100 102808406 RIP_Alu_chr1_102_02 - NC_000001.9:g.102868668_102868973del chr1 104766102 104766104 RIP_Alu_chr1_104_01 + NC_000001.9:g.104855605_104855606ins chr1 105100887 105100889 RIP_Alu_chr1_105_02 - NC_000001.9:g.105190390_105190391ins chr1 105140340 105140660 RIP_Alu_chr1_105_01 - NC_000001.9:g.105229843_105230162del chr1 112704036 112704038 RIP_Alu_chr1_112_01 + NC_000001.9:g.112793518_112793519ins chr1 114097482 114097774 RIP_Alu_chr1_114_01 + NC_000001.9:g.114186964_114187255del chr1 114755571 114755874 RIP_Alu_chr1_114_02 + NC_000001.9:g.114845053_114845355del chr1 115508940 115509214 RIP_Alu_chr1_115_01 + NC_000001.9:g.115598422_115598695del chr1 116183160 116183464 RIP_Alu_chr1_116_01 - NC_000001.9:g.116272642_116272945del chr1 117803092 117803300 RIP_Alu_chr1_117_01 + NC_000001.9:g.117892574_117892781del chr1 118792745 118792747 RIP_Alu_chr1_118_01 - NC_000001.9:g.118882227_118882228ins chr1 120322148 120322150 RIP_Alu_chr1_120_01 + NC_000001.9:g.120411630_120411631ins chr1 141526558 141526560 RIP_Alu_chr1_141_01 - NC_000001.9:g.142781863_142781864ins chr1 143883035 143883037 RIP_Alu_chr1_143_01 + NC_000001.9:g.145124844_145124845ins chr1 147504523 147504843 RIP_Alu_chr1_147_01 + NC_000001.9:g.148958075_148958394del chr1 154990129 154990442 RIP_Alu_chr1_154_01 - NC_000001.9:g.156443681_156443993del chr1 155442459 155442772 RIP_Alu_chr1_155_02 - NC_000001.9:g.156896011_156896323del chr1 155525118 155525426 RIP_Alu_chr1_155_01 + NC_000001.9:g.156978670_156978977del chr1 157748107 157748411 RIP_Alu_chr1_157_01 + NC_000001.9:g.159201659_159201962del chr1 158784337 158784643 RIP_Alu_chr1_158_01 - NC_000001.9:g.160319304_160319609del chr1 159492979 159492981 RIP_Alu_chr1_159_01 - NC_000001.9:g.161027946_161027947ins chr1 161252580 161252894 RIP_Alu_chr1_161_01 - NC_000001.9:g.162787547_162787860del chr1 165891693 165892007 RIP_Alu_chr1_165_01 - NC_000001.9:g.167426660_167426973del chr1 167992892 167993199 RIP_Alu_chr1_167_01 + NC_000001.9:g.169527859_169528165del chr1 175129266 175129268 RIP_Alu_chr1_175_01 - NC_000001.9:g.176664233_176664234ins chr1 177024658 177024970 RIP_Alu_chr1_177_02 - NC_000001.9:g.178559625_178559936del chr1 177589221 177589223 RIP_Alu_chr1_177_01 + NC_000001.9:g.179124188_179124189ins chr1 179683679 179683965 RIP_Alu_chr1_179_01 - NC_000001.9:g.181218646_181218931del chr1 181668709 181669016 RIP_Alu_chr1_181_01 + NC_000001.9:g.183203676_183203982del chr1 182104762 182105091 RIP_Alu_chr1_182_02 + NC_000001.9:g.183639729_183640057del chr1 182498472 182498783 RIP_Alu_chr1_182_01 + NC_000001.9:g.184033439_184033749del chr1 185726620 185726940 RIP_Alu_chr1_185_01 - NC_000001.9:g.187261587_187261906del chr1 187593421 187593719 RIP_Alu_chr1_187_01 - NC_000001.9:g.189128388_189128685del chr1 188312437 188312439 RIP_Alu_chr1_188_01 + NC_000001.9:g.189847404_189847405ins chr1 193510848 193510850 RIP_Alu_chr1_193_02 + NC_000001.9:g.195045815_195045816ins chr1 193743322 193743620 RIP_Alu_chr1_193_01 + NC_000001.9:g.195278289_195278586del chr1 194128298 194128300 RIP_Alu_chr1_194_01 - NC_000001.9:g.195663265_195663266ins chr1 205079886 205079888 RIP_Alu_chr1_205_01 - NC_000001.9:g.206758115_206758116ins chr1 206683714 206684017 RIP_Alu_chr1_206_01 - NC_000001.9:g.208361943_208362245del chr1 207350422 207350732 RIP_Alu_chr1_207_01 - NC_000001.9:g.209028651_209028960del chr1 213413261 213413263 RIP_Alu_chr1_213_01 + NC_000001.9:g.215091490_215091491ins chr1 214142484 214142772 RIP_Alu_chr1_214_01 + NC_000001.9:g.215820713_215821000del chr1 215174324 215174628 RIP_Alu_chr1_215_01 - NC_000001.9:g.216852553_216852856del chr1 216311717 216312021 RIP_Alu_chr1_216_01 - NC_000001.9:g.217989946_217990249del chr1 219207585 219207587 RIP_Alu_chr1_219_01 - NC_000001.9:g.220885814_220885815ins chr1 220699568 220699869 RIP_Alu_chr1_220_01 - NC_000001.9:g.222459457_222459757del chr1 221651147 221651451 RIP_Alu_chr1_221_01 - NC_000001.9:g.223411036_223411339del chr1 222069048 222069355 RIP_Alu_chr1_222_01 + NC_000001.9:g.223828937_223829243del chr1 223909011 223909013 RIP_Alu_chr1_223_01 + NC_000001.9:g.225668900_225668901ins chr1 224330840 224331135 RIP_Alu_chr1_224_01 + NC_000001.9:g.226090729_226091023del chr1 224878907 224879224 RIP_Alu_chr1_224_02 - NC_000001.9:g.226638796_226639112del chr1 225121548 225121876 RIP_Alu_chr1_225_01 - NC_000001.9:g.226881437_226881764del chr1 225266664 225266666 RIP_Alu_chr1_225_02 - NC_000001.9:g.227026553_227026554ins chr1 227391896 227391898 RIP_Alu_chr1_227_02 + NC_000001.9:g.229151785_229151786ins chr1 227609811 227610102 RIP_Alu_chr1_227_01 - NC_000001.9:g.229369700_229369990del chr1 228729867 228730181 RIP_Alu_chr1_228_01 - NC_000001.9:g.230489756_230490069del chr1 230171889 230172205 RIP_Alu_chr1_230_02 + NC_000001.9:g.231931778_231932093del chr1 230377298 230377300 RIP_Alu_chr1_230_03 + NC_000001.9:g.232137187_232137188ins chr1 230893945 230894247 RIP_Alu_chr1_230_01 + NC_000001.9:g.232653834_232654135del chr1 232380631 232380954 RIP_Alu_chr1_232_01 - NC_000001.9:g.234121214_234121536del chr1 232920979 232921291 RIP_Alu_chr1_232_02 + NC_000001.9:g.234661562_234661873del chr1 235752307 235752309 RIP_Alu_chr1_235_01 + NC_000001.9:g.237492890_237492891ins chr1 237475913 237476222 RIP_Alu_chr1_237_02 - NC_000001.9:g.239216496_239216804del chr1 237686593 237686893 RIP_Alu_chr1_237_01 - NC_000001.9:g.239427176_239427475del chr10 3559024 3559026 RIP_Alu_chr10_003_01 + NC_000010.9:g.3559025_3559026ins chr10 4624810 4625120 RIP_Alu_chr10_004_01 + NC_000010.9:g.4624811_4625120del chr10 4997444 4997755 RIP_Alu_chr10_004_02 - NC_000010.9:g.4997445_4997755del chr10 9559833 9560127 RIP_Alu_chr10_009_01 - NC_000010.9:g.9559834_9560127del chr10 10748548 10748858 RIP_Alu_chr10_010_01 + NC_000010.9:g.10748549_10748858del chr10 13298027 13298326 RIP_Alu_chr10_013_01 - NC_000010.9:g.13298028_13298326del chr10 16040971 16040973 RIP_Alu_chr10_016_01 + NC_000010.9:g.16040972_16040973ins chr10 20172021 20172023 RIP_Alu_chr10_020_02 + NC_000010.9:g.20172022_20172023ins chr10 20707264 20707571 RIP_Alu_chr10_020_01 + NC_000010.9:g.20707265_20707571del chr10 25075196 25075288 RIP_Alu_chr10_025_01 + NC_000010.9:g.25075197_25075288del chr10 25138094 25138425 RIP_Alu_chr10_025_02 - NC_000010.9:g.25138095_25138425del chr10 26807962 26808253 RIP_Alu_chr10_026_01 + NC_000010.9:g.26807963_26808253del chr10 29142533 29142535 RIP_Alu_chr10_029_01 + NC_000010.9:g.29142534_29142535ins chr10 29145303 29145305 RIP_Alu_chr10_029_02 + NC_000010.9:g.29145304_29145305ins chr10 32745742 32746070 RIP_Alu_chr10_032_01 + NC_000010.9:g.32745743_32746070del chr10 33532659 33532935 RIP_Alu_chr10_033_01 - NC_000010.9:g.33532660_33532935del chr10 34724488 34724799 RIP_Alu_chr10_034_01 + NC_000010.9:g.34724489_34724799del chr10 35633227 35633545 RIP_Alu_chr10_035_01 - NC_000010.9:g.35633228_35633545del chr10 46117911 46118212 RIP_Alu_chr10_046_03 - NC_000010.9:g.46117912_46118212del chr10 46253170 46253491 RIP_Alu_chr10_046_05 + NC_000010.9:g.46253171_46253491del chr10 46254445 46254757 RIP_Alu_chr10_046_04 - NC_000010.9:g.46254446_46254757del chr10 46322198 46322200 RIP_Alu_chr10_046_02 + NC_000010.9:g.46322199_46322200ins chr10 46508390 46508709 RIP_Alu_chr10_046_01 + NC_000010.9:g.46508391_46508709del chr10 48039956 48039958 RIP_Alu_chr10_048_01 - NC_000010.9:g.48039957_48039958ins chr10 49587175 49587485 RIP_Alu_chr10_049_02 + NC_000010.9:g.49587176_49587485del chr10 49948020 49948340 RIP_Alu_chr10_049_01 + NC_000010.9:g.49948021_49948340del chr10 54111214 54111520 RIP_Alu_chr10_054_02 - NC_000010.9:g.54111215_54111520del chr10 54530825 54531136 RIP_Alu_chr10_054_03 - NC_000010.9:g.54530826_54531136del chr10 54688749 54688976 RIP_Alu_chr10_054_01 - NC_000010.9:g.54688750_54688976del chr10 55628259 55628441 RIP_Alu_chr10_055_01 - NC_000010.9:g.55628260_55628441del chr10 56187043 56187346 RIP_Alu_chr10_056_01 - NC_000010.9:g.56187044_56187346del chr10 57372052 57372380 RIP_Alu_chr10_057_01 - NC_000010.9:g.57372053_57372380del chr10 57644638 57644640 RIP_Alu_chr10_057_02 + NC_000010.9:g.57644639_57644640ins chr10 58685231 58685565 RIP_Alu_chr10_058_01 - NC_000010.9:g.58685232_58685565del chr10 60654926 60654928 RIP_Alu_chr10_060_01 + NC_000010.9:g.60654927_60654928ins chr10 61035499 61035806 RIP_Alu_chr10_061_01 - NC_000010.9:g.61035500_61035806del chr10 63413633 63413800 RIP_Alu_chr10_063_01 - NC_000010.9:g.63413634_63413800del chr10 65938804 65939098 RIP_Alu_chr10_065_01 - NC_000010.9:g.65938805_65939098del chr10 66521924 66522231 RIP_Alu_chr10_066_01 + NC_000010.9:g.66521925_66522231del chr10 67754670 67754672 RIP_Alu_chr10_067_01 - NC_000010.9:g.67754671_67754672ins chr10 68006771 68006773 RIP_Alu_chr10_068_01 - NC_000010.9:g.68006772_68006773ins chr10 69942115 69942424 RIP_Alu_chr10_069_01 + NC_000010.9:g.69942116_69942424del chr10 70668129 70668437 RIP_Alu_chr10_070_01 - NC_000010.9:g.70668130_70668437del chr10 71280179 71280181 RIP_Alu_chr10_071_01 + NC_000010.9:g.71280180_71280181ins chr10 72275425 72275427 RIP_Alu_chr10_072_01 - NC_000010.9:g.72275426_72275427ins chr10 72863552 72863554 RIP_Alu_chr10_072_02 - NC_000010.9:g.72863553_72863554ins chr10 74468390 74468689 RIP_Alu_chr10_074_01 - NC_000010.9:g.74468391_74468689del chr10 78470916 78471223 RIP_Alu_chr10_078_01 - NC_000010.9:g.78470917_78471223del chr10 84390751 84390885 RIP_Alu_chr10_084_01 - NC_000010.9:g.84390752_84390885del chr10 85591495 85591801 RIP_Alu_chr10_085_01 - NC_000010.9:g.85591496_85591801del chr10 85616211 85616404 RIP_Alu_chr10_085_02 + NC_000010.9:g.85616212_85616404del chr10 85973238 85973240 RIP_Alu_chr10_085_03 - NC_000010.9:g.85973239_85973240ins chr10 89804956 89804958 RIP_Alu_chr10_089_01 + NC_000010.9:g.89804957_89804958ins chr10 90763028 90763030 RIP_Alu_chr10_090_01 - NC_000010.9:g.90763029_90763030ins chr10 91537377 91537700 RIP_Alu_chr10_091_01 - NC_000010.9:g.91537378_91537700del chr10 92805377 92805684 RIP_Alu_chr10_092_01 - NC_000010.9:g.92805378_92805684del chr10 92959207 92959530 RIP_Alu_chr10_092_02 + NC_000010.9:g.92959208_92959530del chr10 96753973 96753975 RIP_Alu_chr10_096_01 - NC_000010.9:g.96753974_96753975ins chr10 99098280 99098598 RIP_Alu_chr10_099_01 - NC_000010.9:g.99098281_99098598del chr10 105087528 105087826 RIP_Alu_chr10_105_01 + NC_000010.9:g.105087529_105087826del chr10 107667548 107667859 RIP_Alu_chr10_107_02 - NC_000010.9:g.107667549_107667859del chr10 107881536 107881538 RIP_Alu_chr10_107_01 + NC_000010.9:g.107881537_107881538ins chr10 111026383 111026689 RIP_Alu_chr10_111_01 + NC_000010.9:g.111026384_111026689del chr10 115499121 115499422 RIP_Alu_chr10_115_01 + NC_000010.9:g.115499122_115499422del chr10 115851720 115852020 RIP_Alu_chr10_115_02 + NC_000010.9:g.115851721_115852020del chr10 116996331 116996333 RIP_Alu_chr10_116_01 - NC_000010.9:g.116996332_116996333ins chr10 118255313 118255622 RIP_Alu_chr10_118_01 - NC_000010.9:g.118255314_118255622del chr10 118267142 118267459 RIP_Alu_chr10_118_02 + NC_000010.9:g.118267143_118267459del chr10 119624272 119624595 RIP_Alu_chr10_119_01 - NC_000010.9:g.119624273_119624595del chr10 122130592 122130594 RIP_Alu_chr10_122_01 - NC_000010.9:g.122130593_122130594ins chr10 123266880 123266882 RIP_Alu_chr10_123_02 + NC_000010.9:g.123266881_123266882ins chr10 123266985 123266987 RIP_Alu_chr10_123_01 + NC_000010.9:g.123266986_123266987ins chr10 123479177 123479484 RIP_Alu_chr10_123_03 - NC_000010.9:g.123479178_123479484del chr10 128096474 128096776 RIP_Alu_chr10_128_01 + NC_000010.9:g.128096475_128096776del chr10 129080296 129080298 RIP_Alu_chr10_129_01 + NC_000010.9:g.129080297_129080298ins chr10 129455302 129455598 RIP_Alu_chr10_129_02 - NC_000010.9:g.129455303_129455598del chr10 130046341 130046659 RIP_Alu_chr10_130_01 + NC_000010.9:g.130046342_130046659del chr10 131263885 131263887 RIP_Alu_chr10_131_01 + NC_000010.9:g.131263886_131263887ins chr10 132035576 132035578 RIP_Alu_chr10_132_02 - NC_000010.9:g.132035577_132035578ins chr10 132748478 132748811 RIP_Alu_chr10_132_01 - NC_000010.9:g.132748479_132748811del chr10 133299083 133299398 RIP_Alu_chr10_133_01 + NC_000010.9:g.133299084_133299398del chr11 83620 83928 RIP_Alu_chr11_000_01 - NC_000011.8:g.83621_83928del chr11 4598281 4598283 RIP_Alu_chr11_004_02 - NC_000011.8:g.4598282_4598283ins chr11 4759110 4759408 RIP_Alu_chr11_004_01 + NC_000011.8:g.4759111_4759408del chr11 5063543 5063787 RIP_Alu_chr11_005_01 + NC_000011.8:g.5063544_5063787del chr11 6837934 6838542 RIP_Alu_chr11_006_01 - NC_000011.8:g.6837935_6838542del chr11 7673490 7673795 RIP_Alu_chr11_007_01 + NC_000011.8:g.7673491_7673795del chr11 9751161 9751475 RIP_Alu_chr11_009_01 + NC_000011.8:g.9751162_9751475del chr11 12900317 12900585 RIP_Alu_chr11_012_01 - NC_000011.8:g.12900318_12900585del chr11 14304899 14305202 RIP_Alu_chr11_014_01 + NC_000011.8:g.14304900_14305202del chr11 15976569 15976571 RIP_Alu_chr11_015_01 + NC_000011.8:g.15976570_15976571ins chr11 16179748 16180054 RIP_Alu_chr11_016_01 - NC_000011.8:g.16179749_16180054del chr11 16554153 16554462 RIP_Alu_chr11_016_02 + NC_000011.8:g.16554154_16554462del chr11 19339349 19339351 RIP_Alu_chr11_019_02 + NC_000011.8:g.19339350_19339351ins chr11 19511830 19512127 RIP_Alu_chr11_019_01 - NC_000011.8:g.19511831_19512127del chr11 24749531 24749533 RIP_Alu_chr11_024_01 - NC_000011.8:g.24749532_24749533ins chr11 25521061 25521389 RIP_Alu_chr11_025_01 + NC_000011.8:g.25521062_25521389del chr11 27264461 27264778 RIP_Alu_chr11_027_01 - NC_000011.8:g.27264462_27264778del chr11 27778804 27778994 RIP_Alu_chr11_027_02 - NC_000011.8:g.27778805_27778994del chr11 29704860 29705179 RIP_Alu_chr11_029_01 + NC_000011.8:g.29704861_29705179del chr11 31109022 31109323 RIP_Alu_chr11_031_01 + NC_000011.8:g.31109023_31109323del chr11 31873302 31873618 RIP_Alu_chr11_031_02 - NC_000011.8:g.31873303_31873618del chr11 32243228 32243549 RIP_Alu_chr11_032_01 + NC_000011.8:g.32243229_32243549del chr11 33494262 33494572 RIP_Alu_chr11_033_01 - NC_000011.8:g.33494263_33494572del chr11 37623221 37623518 RIP_Alu_chr11_037_02 + NC_000011.8:g.37623222_37623518del chr11 37918637 37918941 RIP_Alu_chr11_037_01 + NC_000011.8:g.37918638_37918941del chr11 38757650 38757652 RIP_Alu_chr11_038_01 + NC_000011.8:g.38757651_38757652ins chr11 39761702 39762026 RIP_Alu_chr11_039_01 - NC_000011.8:g.39761703_39762026del chr11 40963607 40963916 RIP_Alu_chr11_040_01 - NC_000011.8:g.40963608_40963916del chr11 42420681 42420985 RIP_Alu_chr11_042_01 - NC_000011.8:g.42420682_42420985del chr11 43419240 43419242 RIP_Alu_chr11_043_01 + NC_000011.8:g.43419241_43419242ins chr11 43848419 43848741 RIP_Alu_chr11_043_02 + NC_000011.8:g.43848420_43848741del chr11 45992823 45993158 RIP_Alu_chr11_045_01 + NC_000011.8:g.45992824_45993158del chr11 46974421 46974692 RIP_Alu_chr11_046_01 - NC_000011.8:g.46974422_46974692del chr11 48889700 48889702 RIP_Alu_chr11_048_01 - NC_000011.8:g.48889701_48889702ins chr11 49381672 49381992 RIP_Alu_chr11_049_01 + NC_000011.8:g.49381673_49381992del chr11 57133180 57133182 RIP_Alu_chr11_057_03 + NC_000011.8:g.57133181_57133182ins chr11 57719418 57719733 RIP_Alu_chr11_057_01 - NC_000011.8:g.57719419_57719733del chr11 57977196 57977510 RIP_Alu_chr11_057_02 - NC_000011.8:g.57977197_57977510del chr11 58219019 58219323 RIP_Alu_chr11_058_01 + NC_000011.8:g.58219020_58219323del chr11 58565877 58566193 RIP_Alu_chr11_058_02 + NC_000011.8:g.58565878_58566193del chr11 60864375 60864701 RIP_Alu_chr11_060_01 - NC_000011.8:g.60864376_60864701del chr11 60901787 60901789 RIP_Alu_chr11_060_02 - NC_000011.8:g.60901788_60901789ins chr11 61646896 61646970 RIP_Alu_chr11_061_01 - NC_000011.8:g.61646897_61646970del chr11 61946504 61946506 RIP_Alu_chr11_061_02 + NC_000011.8:g.61946505_61946506ins chr11 65260063 65260065 RIP_Alu_chr11_065_01 - NC_000011.8:g.65260064_65260065ins chr11 71539256 71539560 RIP_Alu_chr11_071_01 - NC_000011.8:g.71539257_71539560del chr11 73822718 73823054 RIP_Alu_chr11_073_01 + NC_000011.8:g.73822719_73823054del chr11 81233830 81234186 RIP_Alu_chr11_081_01 - NC_000011.8:g.81233831_81234186del chr11 82271185 82271484 RIP_Alu_chr11_082_01 - NC_000011.8:g.82271186_82271484del chr11 87558208 87558509 RIP_Alu_chr11_087_01 - NC_000011.8:g.87558209_87558509del chr11 88188745 88189383 RIP_Alu_chr11_088_01 + NC_000011.8:g.88188746_88189383del chr11 89572168 89572500 RIP_Alu_chr11_089_01 + NC_000011.8:g.89572169_89572500del chr11 91885653 91885949 RIP_Alu_chr11_091_01 + NC_000011.8:g.91885654_91885949del chr11 92248125 92248127 RIP_Alu_chr11_092_02 + NC_000011.8:g.92248126_92248127ins chr11 92615998 92616332 RIP_Alu_chr11_092_01 + NC_000011.8:g.92615999_92616332del chr11 92742462 92742766 RIP_Alu_chr11_092_03 + NC_000011.8:g.92742463_92742766del chr11 96119982 96120296 RIP_Alu_chr11_096_02 - NC_000011.8:g.96119983_96120296del chr11 96607004 96607321 RIP_Alu_chr11_096_01 + NC_000011.8:g.96607005_96607321del chr11 98781545 98781873 RIP_Alu_chr11_098_01 + NC_000011.8:g.98781546_98781873del chr11 100795219 100795527 RIP_Alu_chr11_100_01 + NC_000011.8:g.100795220_100795527del chr11 101977067 101977372 RIP_Alu_chr11_101_01 - NC_000011.8:g.101977068_101977372del chr11 102593153 102593300 RIP_Alu_chr11_102_01 - NC_000011.8:g.102593154_102593300del chr11 102916040 102916344 RIP_Alu_chr11_102_02 - NC_000011.8:g.102916041_102916344del chr11 103515692 103516036 RIP_Alu_chr11_103_01 + NC_000011.8:g.103515693_103516036del chr11 105270730 105271034 RIP_Alu_chr11_105_01 - NC_000011.8:g.105270731_105271034del chr11 105549790 105549792 RIP_Alu_chr11_105_02 + NC_000011.8:g.105549791_105549792ins chr11 106101089 106101374 RIP_Alu_chr11_106_01 - NC_000011.8:g.106101090_106101374del chr11 111701654 111701656 RIP_Alu_chr11_111_01 - NC_000011.8:g.111701655_111701656ins chr11 115255684 115255686 RIP_Alu_chr11_115_01 + NC_000011.8:g.115255685_115255686ins chr11 118465031 118465033 RIP_Alu_chr11_118_01 - NC_000011.8:g.118465032_118465033ins chr11 119224730 119225011 RIP_Alu_chr11_119_01 + NC_000011.8:g.119224731_119225011del chr11 121782858 121782860 RIP_Alu_chr11_121_01 + NC_000011.8:g.121782859_121782860ins chr11 124335360 124335456 RIP_Alu_chr11_124_01 + NC_000011.8:g.124335361_124335456del chr11 132063803 132064084 RIP_Alu_chr11_132_01 + NC_000011.8:g.132063804_132064084del chr12 1222331 1222644 RIP_Alu_chr12_001_01 + NC_000012.10:g.1222332_1222644del chr12 5639862 5639864 RIP_Alu_chr12_005_01 + NC_000012.10:g.5639863_5639864ins chr12 10125469 10125471 RIP_Alu_chr12_010_02 + NC_000012.10:g.10125470_10125471ins chr12 10594767 10595081 RIP_Alu_chr12_010_03 + NC_000012.10:g.10594768_10595081del chr12 10829040 10829353 RIP_Alu_chr12_010_01 - NC_000012.10:g.10829041_10829353del chr12 12908914 12909215 RIP_Alu_chr12_012_01 + NC_000012.10:g.12908915_12909215del chr12 15514699 15514701 RIP_Alu_chr12_015_01 - NC_000012.10:g.15514700_15514701ins chr12 16067670 16067977 RIP_Alu_chr12_016_01 - NC_000012.10:g.16067671_16067977del chr12 20753799 20754124 RIP_Alu_chr12_020_01 + NC_000012.10:g.20753800_20754124del chr12 22015062 22015064 RIP_Alu_chr12_022_02 - NC_000012.10:g.22015063_22015064ins chr12 22988829 22989146 RIP_Alu_chr12_022_01 + NC_000012.10:g.22988830_22989146del chr12 23687005 23687305 RIP_Alu_chr12_023_01 + NC_000012.10:g.23687006_23687305del chr12 26402303 26402619 RIP_Alu_chr12_026_01 + NC_000012.10:g.26402304_26402619del chr12 27325269 27325589 RIP_Alu_chr12_027_01 - NC_000012.10:g.27325270_27325589del chr12 29171517 29171817 RIP_Alu_chr12_029_02 + NC_000012.10:g.29171518_29171817del chr12 29464686 29465019 RIP_Alu_chr12_029_01 - NC_000012.10:g.29464687_29465019del chr12 31665008 31665296 RIP_Alu_chr12_031_01 - NC_000012.10:g.31665009_31665296del chr12 32854881 32855181 RIP_Alu_chr12_032_01 - NC_000012.10:g.32854882_32855181del chr12 39946097 39946400 RIP_Alu_chr12_039_01 + NC_000012.10:g.39946098_39946400del chr12 40768965 40768967 RIP_Alu_chr12_040_01 + NC_000012.10:g.40768966_40768967ins chr12 43705811 43705813 RIP_Alu_chr12_043_01 + NC_000012.10:g.43705812_43705813ins chr12 45361632 45361965 RIP_Alu_chr12_045_01 + NC_000012.10:g.45361633_45361965del chr12 52531687 52531963 RIP_Alu_chr12_052_01 + NC_000012.10:g.52531688_52531963del chr12 53139774 53140076 RIP_Alu_chr12_053_01 - NC_000012.10:g.53139775_53140076del chr12 56744489 56744491 RIP_Alu_chr12_056_01 + NC_000012.10:g.56744490_56744491ins chr12 57344520 57344826 RIP_Alu_chr12_057_01 - NC_000012.10:g.57344521_57344826del chr12 59990413 59990415 RIP_Alu_chr12_059_01 + NC_000012.10:g.59990414_59990415ins chr12 60022806 60023066 RIP_Alu_chr12_060_01 + NC_000012.10:g.60022807_60023066del chr12 63683557 63683559 RIP_Alu_chr12_063_01 + NC_000012.10:g.63683558_63683559ins chr12 74585209 74585511 RIP_Alu_chr12_074_01 - NC_000012.10:g.74585210_74585511del chr12 76411138 76411447 RIP_Alu_chr12_076_01 - NC_000012.10:g.76432802_76433110del chr12 78210134 78210440 RIP_Alu_chr12_078_01 + NC_000012.10:g.78231798_78232103del chr12 82461697 82462001 RIP_Alu_chr12_082_02 + NC_000012.10:g.82483361_82483664del chr12 82544751 82545050 RIP_Alu_chr12_082_01 + NC_000012.10:g.82566415_82566713del chr12 84120205 84120207 RIP_Alu_chr12_084_01 + NC_000012.10:g.84141869_84141870ins chr12 85025792 85026104 RIP_Alu_chr12_085_01 - NC_000012.10:g.85047456_85047767del chr12 86373290 86373292 RIP_Alu_chr12_086_02 - NC_000012.10:g.86394954_86394955ins chr12 86840638 86840640 RIP_Alu_chr12_086_01 + NC_000012.10:g.86862302_86862303ins chr12 89348855 89349047 RIP_Alu_chr12_089_01 + NC_000012.10:g.89370519_89370710del chr12 90967982 90968289 RIP_Alu_chr12_090_01 + NC_000012.10:g.90989646_90989952del chr12 92860811 92861108 RIP_Alu_chr12_092_01 + NC_000012.10:g.92882475_92882771del chr12 93171814 93172123 RIP_Alu_chr12_093_01 + NC_000012.10:g.93193478_93193786del chr12 93846535 93846834 RIP_Alu_chr12_093_02 - NC_000012.10:g.93868199_93868497del chr12 95207830 95207832 RIP_Alu_chr12_095_01 + NC_000012.10:g.95229494_95229495ins chr12 96057208 96057523 RIP_Alu_chr12_096_01 - NC_000012.10:g.96078872_96079186del chr12 96665869 96665871 RIP_Alu_chr12_096_02 - NC_000012.10:g.96687533_96687534ins chr12 100816547 100816630 RIP_Alu_chr12_100_01 - NC_000012.10:g.100838211_100838293del chr12 102795873 102796191 RIP_Alu_chr12_102_01 - NC_000012.10:g.102817537_102817854del chr12 105393418 105393420 RIP_Alu_chr12_105_01 - NC_000012.10:g.105415082_105415083ins chr12 121535230 121535548 RIP_Alu_chr12_121_01 - NC_000012.10:g.121576304_121576621del chr12 125429995 125430295 RIP_Alu_chr12_125_01 + NC_000012.10:g.125471069_125471368del chr12 125724842 125725167 RIP_Alu_chr12_125_02 - NC_000012.10:g.125765916_125766240del chr12 126027517 126027732 RIP_Alu_chr12_126_02 + NC_000012.10:g.126068591_126068805del chr12 126185321 126185632 RIP_Alu_chr12_126_01 + NC_000012.10:g.126226395_126226705del chr12 127457134 127457421 RIP_Alu_chr12_127_01 - NC_000012.10:g.127498208_127498494del chr12 128365576 128365881 RIP_Alu_chr12_128_01 - NC_000012.10:g.128406650_128406954del chr12 128585182 128585498 RIP_Alu_chr12_128_02 - NC_000012.10:g.128626256_128626571del chr12 129949089 129949104 RIP_Alu_chr12_129_01 - NC_000012.10:g.129990163_129990177del chr13 18076187 18076464 RIP_Alu_chr13_018_01 + NC_000013.9:g.18076188_18076464del chr13 18374809 18375098 RIP_Alu_chr13_018_02 - NC_000013.9:g.18374810_18375098del chr13 20628916 20629223 RIP_Alu_chr13_020_01 + NC_000013.9:g.20628917_20629223del chr13 21086493 21086495 RIP_Alu_chr13_021_03 + NC_000013.9:g.21086494_21086495ins chr13 21421530 21421848 RIP_Alu_chr13_021_02 - NC_000013.9:g.21421531_21421848del chr13 21953217 21953513 RIP_Alu_chr13_021_01 - NC_000013.9:g.21953218_21953513del chr13 22455672 22455984 RIP_Alu_chr13_022_03 - NC_000013.9:g.22455673_22455984del chr13 22955655 22955973 RIP_Alu_chr13_022_01 - NC_000013.9:g.22955656_22955973del chr13 22967367 22967660 RIP_Alu_chr13_022_02 + NC_000013.9:g.22967368_22967660del chr13 23608966 23609268 RIP_Alu_chr13_023_01 - NC_000013.9:g.23608967_23609268del chr13 24168561 24168883 RIP_Alu_chr13_024_01 + NC_000013.9:g.24168562_24168883del chr13 28789571 28789874 RIP_Alu_chr13_028_01 - NC_000013.9:g.28789572_28789874del chr13 28852770 28853081 RIP_Alu_chr13_028_02 + NC_000013.9:g.28852771_28853081del chr13 30073596 30073920 RIP_Alu_chr13_030_01 + NC_000013.9:g.30073597_30073920del chr13 31791296 31791298 RIP_Alu_chr13_031_02 + NC_000013.9:g.31791297_31791298ins chr13 31851498 31851500 RIP_Alu_chr13_031_01 + NC_000013.9:g.31851499_31851500ins chr13 35336419 35336722 RIP_Alu_chr13_035_01 + NC_000013.9:g.35336420_35336722del chr13 38397636 38397638 RIP_Alu_chr13_038_02 + NC_000013.9:g.38397637_38397638ins chr13 38926480 38926791 RIP_Alu_chr13_038_01 + NC_000013.9:g.38926481_38926791del chr13 40756209 40756211 RIP_Alu_chr13_040_01 - NC_000013.9:g.40756210_40756211ins chr13 41053115 41053437 RIP_Alu_chr13_041_01 - NC_000013.9:g.41053116_41053437del chr13 41838087 41838089 RIP_Alu_chr13_041_03 + NC_000013.9:g.41838088_41838089ins chr13 41844063 41844378 RIP_Alu_chr13_041_02 - NC_000013.9:g.41844064_41844378del chr13 43278321 43278652 RIP_Alu_chr13_043_01 - NC_000013.9:g.43278322_43278652del chr13 48271231 48271550 RIP_Alu_chr13_048_01 - NC_000013.9:g.48271232_48271550del chr13 53422083 53422391 RIP_Alu_chr13_053_01 - NC_000013.9:g.53422084_53422391del chr13 54336087 54336089 RIP_Alu_chr13_054_01 + NC_000013.9:g.54336088_54336089ins chr13 58294895 58294897 RIP_Alu_chr13_058_01 - NC_000013.9:g.58294896_58294897ins chr13 59070499 59070824 RIP_Alu_chr13_059_01 + NC_000013.9:g.59070500_59070824del chr13 60685418 60685420 RIP_Alu_chr13_060_01 + NC_000013.9:g.60685419_60685420ins chr13 62421816 62422120 RIP_Alu_chr13_062_02 - NC_000013.9:g.62421817_62422120del chr13 62554193 62554511 RIP_Alu_chr13_062_01 + NC_000013.9:g.62554194_62554511del chr13 63275102 63275400 RIP_Alu_chr13_063_02 - NC_000013.9:g.63275103_63275400del chr13 63346598 63346899 RIP_Alu_chr13_063_01 - NC_000013.9:g.63346599_63346899del chr13 66801470 66801472 RIP_Alu_chr13_066_01 - NC_000013.9:g.66801471_66801472ins chr13 68864667 68864962 RIP_Alu_chr13_068_01 - NC_000013.9:g.68864668_68864962del chr13 69357071 69357373 RIP_Alu_chr13_069_01 - NC_000013.9:g.69357072_69357373del chr13 71854724 71855025 RIP_Alu_chr13_071_01 + NC_000013.9:g.71854725_71855025del chr13 72972921 72973240 RIP_Alu_chr13_072_01 - NC_000013.9:g.72972922_72973240del chr13 75209607 75209925 RIP_Alu_chr13_075_01 + NC_000013.9:g.75209608_75209925del chr13 77492164 77492475 RIP_Alu_chr13_077_01 + NC_000013.9:g.77492165_77492475del chr13 77549687 77549689 RIP_Alu_chr13_077_02 + NC_000013.9:g.77549688_77549689ins chr13 78559081 78559403 RIP_Alu_chr13_078_02 - NC_000013.9:g.78559082_78559403del chr13 78979407 78979709 RIP_Alu_chr13_078_01 - NC_000013.9:g.78979408_78979709del chr13 79097093 79097095 RIP_Alu_chr13_079_01 + NC_000013.9:g.79097094_79097095ins chr13 79670342 79670344 RIP_Alu_chr13_079_02 + NC_000013.9:g.79670343_79670344ins chr13 80539707 80539709 RIP_Alu_chr13_080_02 + NC_000013.9:g.80539708_80539709ins chr13 80645254 80645565 RIP_Alu_chr13_080_01 - NC_000013.9:g.80645255_80645565del chr13 81787211 81787538 RIP_Alu_chr13_081_01 + NC_000013.9:g.81787212_81787538del chr13 83377041 83377343 RIP_Alu_chr13_083_01 - NC_000013.9:g.83377042_83377343del chr13 85953192 85953490 RIP_Alu_chr13_085_01 + NC_000013.9:g.85953193_85953490del chr13 86190963 86190965 RIP_Alu_chr13_086_01 - NC_000013.9:g.86190964_86190965ins chr13 87801283 87801607 RIP_Alu_chr13_087_01 - NC_000013.9:g.87801284_87801607del chr13 89219383 89219521 RIP_Alu_chr13_089_01 + NC_000013.9:g.89219384_89219521del chr13 89348561 89348563 RIP_Alu_chr13_089_02 + NC_000013.9:g.89348562_89348563ins chr13 89745655 89745657 RIP_Alu_chr13_089_04 - NC_000013.9:g.89745656_89745657ins chr13 89958052 89958290 RIP_Alu_chr13_089_03 + NC_000013.9:g.89958053_89958290del chr13 91059286 91059288 RIP_Alu_chr13_091_02 + NC_000013.9:g.91059287_91059288ins chr13 91077264 91077584 RIP_Alu_chr13_091_01 - NC_000013.9:g.91077265_91077584del chr13 92626418 92626420 RIP_Alu_chr13_092_01 - NC_000013.9:g.92626419_92626420ins chr13 94049133 94049442 RIP_Alu_chr13_094_01 - NC_000013.9:g.94049134_94049442del chr13 95431436 95431741 RIP_Alu_chr13_095_01 + NC_000013.9:g.95431437_95431741del chr13 97492754 97493061 RIP_Alu_chr13_097_01 - NC_000013.9:g.97492755_97493061del chr13 97519250 97519557 RIP_Alu_chr13_097_02 - NC_000013.9:g.97519251_97519557del chr13 98476280 98476352 RIP_Alu_chr13_098_01 + NC_000013.9:g.98476281_98476352del chr13 98880627 98880629 RIP_Alu_chr13_098_02 - NC_000013.9:g.98880628_98880629ins chr13 100040077 100040382 RIP_Alu_chr13_100_02 - NC_000013.9:g.100040078_100040382del chr13 100704956 100705265 RIP_Alu_chr13_100_01 + NC_000013.9:g.100704957_100705265del chr13 102729652 102729959 RIP_Alu_chr13_102_03 + NC_000013.9:g.102729653_102729959del chr13 102807863 102808174 RIP_Alu_chr13_102_01 - NC_000013.9:g.102807864_102808174del chr13 102942390 102942662 RIP_Alu_chr13_102_02 - NC_000013.9:g.102942391_102942662del chr13 103959219 103959524 RIP_Alu_chr13_103_01 + NC_000013.9:g.103959220_103959524del chr13 106722549 106722862 RIP_Alu_chr13_106_01 - NC_000013.9:g.106722550_106722862del chr13 107467030 107467032 RIP_Alu_chr13_107_01 + NC_000013.9:g.107467031_107467032ins chr13 109610508 109610807 RIP_Alu_chr13_109_01 + NC_000013.9:g.109610509_109610807del chr13 109874811 109874813 RIP_Alu_chr13_109_02 - NC_000013.9:g.109874812_109874813ins chr13 112041798 112041800 RIP_Alu_chr13_112_02 + NC_000013.9:g.112041799_112041800ins chr13 112568967 112568969 RIP_Alu_chr13_112_03 - NC_000013.9:g.112568968_112568969ins chr13 112838949 112839264 RIP_Alu_chr13_112_01 - NC_000013.9:g.112838950_112839264del chr14 20605983 20606297 RIP_Alu_chr14_020_01 - NC_000014.7:g.20605984_20606297del chr14 25075651 25075887 RIP_Alu_chr14_025_01 - NC_000014.7:g.25075652_25075887del chr14 25216953 25217297 RIP_Alu_chr14_025_02 - NC_000014.7:g.25216954_25217297del chr14 25771457 25771758 RIP_Alu_chr14_025_03 + NC_000014.7:g.25771458_25771758del chr14 30332750 30333065 RIP_Alu_chr14_030_01 - NC_000014.7:g.30332751_30333065del chr14 33359798 33360125 RIP_Alu_chr14_033_01 + NC_000014.7:g.33359799_33360125del chr14 34197790 34197792 RIP_Alu_chr14_034_02 + NC_000014.7:g.34197791_34197792ins chr14 34375053 34375372 RIP_Alu_chr14_034_01 + NC_000014.7:g.34375054_34375372del chr14 34471163 34471474 RIP_Alu_chr14_034_03 + NC_000014.7:g.34471164_34471474del chr14 37429393 37429395 RIP_Alu_chr14_037_01 + NC_000014.7:g.37429394_37429395ins chr14 38087733 38088034 RIP_Alu_chr14_038_01 + NC_000014.7:g.38087734_38088034del chr14 39382712 39382714 RIP_Alu_chr14_039_02 - NC_000014.7:g.39382713_39382714ins chr14 39662194 39662196 RIP_Alu_chr14_039_01 + NC_000014.7:g.39662195_39662196ins chr14 41556084 41556386 RIP_Alu_chr14_041_01 + NC_000014.7:g.41556085_41556386del chr14 44957914 44958217 RIP_Alu_chr14_044_01 - NC_000014.7:g.44957915_44958217del chr14 45412161 45412476 RIP_Alu_chr14_045_01 + NC_000014.7:g.45412162_45412476del chr14 45647686 45647993 RIP_Alu_chr14_045_02 + NC_000014.7:g.45647687_45647993del chr14 47896571 47896885 RIP_Alu_chr14_047_01 + NC_000014.7:g.47896572_47896885del chr14 49028205 49028344 RIP_Alu_chr14_049_01 - NC_000014.7:g.49028206_49028344del chr14 49188636 49188777 RIP_Alu_chr14_049_02 + NC_000014.7:g.49188637_49188777del chr14 51664430 51664730 RIP_Alu_chr14_051_01 + NC_000014.7:g.51664431_51664730del chr14 51826547 51826863 RIP_Alu_chr14_051_02 + NC_000014.7:g.51826548_51826863del chr14 53633815 53634135 RIP_Alu_chr14_053_01 + NC_000014.7:g.53633816_53634135del chr14 55507677 55507679 RIP_Alu_chr14_055_01 - NC_000014.7:g.55507678_55507679ins chr14 56100979 56101319 RIP_Alu_chr14_056_01 + NC_000014.7:g.56100980_56101319del chr14 56442891 56443175 RIP_Alu_chr14_056_02 + NC_000014.7:g.56442892_56443175del chr14 58615065 58615358 RIP_Alu_chr14_058_01 + NC_000014.7:g.58615066_58615358del chr14 58964122 58964124 RIP_Alu_chr14_058_02 + NC_000014.7:g.58964123_58964124ins chr14 59523923 59523925 RIP_Alu_chr14_059_03 - NC_000014.7:g.59523924_59523925ins chr14 59645251 59645253 RIP_Alu_chr14_059_01 - NC_000014.7:g.59645252_59645253ins chr14 59811152 59811154 RIP_Alu_chr14_059_02 + NC_000014.7:g.59811153_59811154ins chr14 62957240 62957555 RIP_Alu_chr14_062_01 + NC_000014.7:g.62957241_62957555del chr14 64596910 64597181 RIP_Alu_chr14_064_01 + NC_000014.7:g.64596911_64597181del chr14 65880396 65880694 RIP_Alu_chr14_065_01 - NC_000014.7:g.65880397_65880694del chr14 67446764 67446909 RIP_Alu_chr14_067_01 + NC_000014.7:g.67446765_67446909del chr14 70507588 70507913 RIP_Alu_chr14_070_01 - NC_000014.7:g.70507589_70507913del chr14 70955948 70956266 RIP_Alu_chr14_070_02 - NC_000014.7:g.70955949_70956266del chr14 73736589 73736897 RIP_Alu_chr14_073_01 + NC_000014.7:g.73736590_73736897del chr14 77897997 77898337 RIP_Alu_chr14_077_01 + NC_000014.7:g.77897998_77898337del chr14 78416052 78416357 RIP_Alu_chr14_078_01 + NC_000014.7:g.78416053_78416357del chr14 78723689 78723778 RIP_Alu_chr14_078_02 + NC_000014.7:g.78723690_78723778del chr14 80162278 80162590 RIP_Alu_chr14_080_01 + NC_000014.7:g.80162279_80162590del chr14 80666805 80667112 RIP_Alu_chr14_080_02 + NC_000014.7:g.80666806_80667112del chr14 82089368 82089635 RIP_Alu_chr14_082_01 - NC_000014.7:g.82089369_82089635del chr14 85412602 85412909 RIP_Alu_chr14_085_01 + NC_000014.7:g.85412603_85412909del chr14 86625653 86625960 RIP_Alu_chr14_086_01 + NC_000014.7:g.86625654_86625960del chr14 86927816 86928136 RIP_Alu_chr14_086_02 + NC_000014.7:g.86927817_86928136del chr14 90254946 90254948 RIP_Alu_chr14_090_01 + NC_000014.7:g.90254947_90254948ins chr14 94094373 94094375 RIP_Alu_chr14_094_01 - NC_000014.7:g.94094374_94094375ins chr14 99914765 99915083 RIP_Alu_chr14_099_01 + NC_000014.7:g.99914766_99915083del chr14 100235665 100235976 RIP_Alu_chr14_100_01 + NC_000014.7:g.100235666_100235976del chr14 106025445 106025757 RIP_Alu_chr14_106_01 + NC_000014.7:g.106025446_106025757del chr15 20978286 20978604 RIP_Alu_chr15_020_01 + NC_000015.8:g.20978287_20978604del chr15 22390424 22390733 RIP_Alu_chr15_022_01 - NC_000015.8:g.22390425_22390733del chr15 24423615 24423617 RIP_Alu_chr15_024_01 - NC_000015.8:g.24423616_24423617ins chr15 25989728 25989730 RIP_Alu_chr15_025_01 + NC_000015.8:g.25989729_25989730ins chr15 32529047 32529311 RIP_Alu_chr15_032_02 + NC_000015.8:g.32529048_32529311del chr15 32534279 32534594 RIP_Alu_chr15_032_01 + NC_000015.8:g.32534280_32534594del chr15 32796324 32796644 RIP_Alu_chr15_032_03 - NC_000015.8:g.32796325_32796644del chr15 33883612 33883614 RIP_Alu_chr15_033_01 - NC_000015.8:g.33883613_33883614ins chr15 37054307 37054650 RIP_Alu_chr15_037_01 - NC_000015.8:g.37054308_37054650del chr15 37307404 37307734 RIP_Alu_chr15_037_02 + NC_000015.8:g.37307405_37307734del chr15 37478896 37478898 RIP_Alu_chr15_037_03 + NC_000015.8:g.37478897_37478898ins chr15 39805039 39805359 RIP_Alu_chr15_039_01 + NC_000015.8:g.39805040_39805359del chr15 41447732 41448045 RIP_Alu_chr15_041_01 + NC_000015.8:g.41447733_41448045del chr15 42289305 42289307 RIP_Alu_chr15_042_01 - NC_000015.8:g.42289306_42289307ins chr15 43836223 43836521 RIP_Alu_chr15_043_02 - NC_000015.8:g.43836224_43836521del chr15 43855271 43855607 RIP_Alu_chr15_043_01 - NC_000015.8:g.43855272_43855607del chr15 49685007 49685332 RIP_Alu_chr15_049_01 - NC_000015.8:g.49685008_49685332del chr15 50312483 50312798 RIP_Alu_chr15_050_01 + NC_000015.8:g.50312484_50312798del chr15 51969631 51969936 RIP_Alu_chr15_051_01 - NC_000015.8:g.51969632_51969936del chr15 54151128 54151434 RIP_Alu_chr15_054_01 - NC_000015.8:g.54151129_54151434del chr15 56700156 56700458 RIP_Alu_chr15_056_01 - NC_000015.8:g.56700157_56700458del chr15 57500189 57500509 RIP_Alu_chr15_057_01 - NC_000015.8:g.57500190_57500509del chr15 58444534 58444536 RIP_Alu_chr15_058_01 - NC_000015.8:g.58444535_58444536ins chr15 59752051 59752166 RIP_Alu_chr15_059_01 + NC_000015.8:g.59752052_59752166del chr15 62420245 62420556 RIP_Alu_chr15_062_01 - NC_000015.8:g.62420246_62420556del chr15 64420877 64421187 RIP_Alu_chr15_064_01 + NC_000015.8:g.64420878_64421187del chr15 65321532 65321853 RIP_Alu_chr15_065_01 + NC_000015.8:g.65321533_65321853del chr15 66976378 66976380 RIP_Alu_chr15_066_01 - NC_000015.8:g.66976379_66976380ins chr15 68195691 68195693 RIP_Alu_chr15_068_01 + NC_000015.8:g.68195692_68195693ins chr15 75697926 75698291 RIP_Alu_chr15_075_01 - NC_000015.8:g.75697927_75698291del chr15 76723725 76723727 RIP_Alu_chr15_076_01 + NC_000015.8:g.76723726_76723727ins chr15 79179640 79179642 RIP_Alu_chr15_079_01 + NC_000015.8:g.79179641_79179642ins chr15 79822719 79822721 RIP_Alu_chr15_079_02 - NC_000015.8:g.79822720_79822721ins chr15 80745747 80746034 RIP_Alu_chr15_080_01 - NC_000015.8:g.80745748_80746034del chr15 88760818 88761113 RIP_Alu_chr15_088_01 - NC_000015.8:g.88760819_88761113del chr15 89203115 89203420 RIP_Alu_chr15_089_01 + NC_000015.8:g.89203116_89203420del chr15 91316801 91317104 RIP_Alu_chr15_091_01 + NC_000015.8:g.91316802_91317104del chr15 98628512 98628514 RIP_Alu_chr15_098_01 - NC_000015.8:g.98628513_98628514ins chr15 98630339 98630341 RIP_Alu_chr15_098_02 + NC_000015.8:g.98630340_98630341ins chr15 99270603 99270899 RIP_Alu_chr15_099_01 + NC_000015.8:g.99270604_99270899del chr15 100150064 100150368 RIP_Alu_chr15_100_01 + NC_000015.8:g.100150065_100150368del chr16 816641 816958 RIP_Alu_chr16_000_01 - NC_000016.8:g.816642_816958del chr16 2042234 2042236 RIP_Alu_chr16_002_01 + NC_000016.8:g.2042235_2042236ins chr16 11909836 11910148 RIP_Alu_chr16_011_01 + NC_000016.8:g.11909837_11910148del chr16 15400474 15400476 RIP_Alu_chr16_015_02 - NC_000016.8:g.15400475_15400476ins chr16 15822991 15823311 RIP_Alu_chr16_015_01 + NC_000016.8:g.15822992_15823311del chr16 16481310 16481598 RIP_Alu_chr16_016_01 - NC_000016.8:g.16481311_16481598del chr16 19137937 19138265 RIP_Alu_chr16_019_02 + NC_000016.8:g.19137938_19138265del chr16 19413835 19414136 RIP_Alu_chr16_019_01 - NC_000016.8:g.19413836_19414136del chr16 20686057 20686362 RIP_Alu_chr16_020_01 + NC_000016.8:g.20686058_20686362del chr16 22753517 22753519 RIP_Alu_chr16_022_01 + NC_000016.8:g.22753518_22753519ins chr16 23436053 23436350 RIP_Alu_chr16_023_01 - NC_000016.8:g.23436054_23436350del chr16 25531063 25531362 RIP_Alu_chr16_025_01 - NC_000016.8:g.25531064_25531362del chr16 26290910 26291233 RIP_Alu_chr16_026_01 + NC_000016.8:g.26290911_26291233del chr16 26515537 26515866 RIP_Alu_chr16_026_02 - NC_000016.8:g.26515538_26515866del chr16 29472849 29473149 RIP_Alu_chr16_029_01 + NC_000016.8:g.29472850_29473149del chr16 30119157 30119479 RIP_Alu_chr16_030_01 + NC_000016.8:g.30119158_30119479del chr16 31892764 31893090 RIP_Alu_chr16_031_02 + NC_000016.8:g.31892765_31893090del chr16 31968314 31968629 RIP_Alu_chr16_031_01 - NC_000016.8:g.31968315_31968629del chr16 32708824 32709133 RIP_Alu_chr16_032_02 - NC_000016.8:g.32708825_32709133del chr16 32960440 32960738 RIP_Alu_chr16_032_01 + NC_000016.8:g.32960441_32960738del chr16 33243046 33243048 RIP_Alu_chr16_033_01 + NC_000016.8:g.33243047_33243048ins chr16 34193928 34194231 RIP_Alu_chr16_034_01 + NC_000016.8:g.34193929_34194231del chr16 45084504 45084506 RIP_Alu_chr16_045_01 + NC_000016.8:g.45084505_45084506ins chr16 47593588 47593708 RIP_Alu_chr16_047_01 + NC_000016.8:g.47593589_47593708del chr16 50561906 50562238 RIP_Alu_chr16_050_01 - NC_000016.8:g.50561907_50562238del chr16 56848419 56848721 RIP_Alu_chr16_056_01 - NC_000016.8:g.56848420_56848721del chr16 60604376 60604695 RIP_Alu_chr16_060_01 + NC_000016.8:g.60604377_60604695del chr16 64039688 64039690 RIP_Alu_chr16_064_01 + NC_000016.8:g.64039689_64039690ins chr16 64077512 64077821 RIP_Alu_chr16_064_02 - NC_000016.8:g.64077513_64077821del chr16 65380705 65381028 RIP_Alu_chr16_065_01 + NC_000016.8:g.65380706_65381028del chr16 65811176 65811482 RIP_Alu_chr16_065_02 - NC_000016.8:g.65811177_65811482del chr16 69617817 69617819 RIP_Alu_chr16_069_02 + NC_000016.8:g.69617818_69617819ins chr16 69721877 69722191 RIP_Alu_chr16_069_01 - NC_000016.8:g.69721878_69722191del chr16 71310798 71311098 RIP_Alu_chr16_071_01 - NC_000016.8:g.71310799_71311098del chr16 71632810 71632812 RIP_Alu_chr16_071_02 + NC_000016.8:g.71632811_71632812ins chr16 78774939 78774941 RIP_Alu_chr16_078_01 + NC_000016.8:g.78774940_78774941ins chr16 80403153 80403459 RIP_Alu_chr16_080_02 - NC_000016.8:g.80403154_80403459del chr16 80721972 80722174 RIP_Alu_chr16_080_01 + NC_000016.8:g.80721973_80722174del chr16 81040034 81040348 RIP_Alu_chr16_081_02 - NC_000016.8:g.81040035_81040348del chr16 81469593 81469595 RIP_Alu_chr16_081_03 + NC_000016.8:g.81469594_81469595ins chr16 81561489 81561771 RIP_Alu_chr16_081_01 - NC_000016.8:g.81561490_81561771del chr16 82223874 82223876 RIP_Alu_chr16_082_01 + NC_000016.8:g.82223875_82223876ins chr16 85371726 85371728 RIP_Alu_chr16_085_01 + NC_000016.8:g.85371727_85371728ins chr17 1177186 1177188 RIP_Alu_chr17_001_01 - NC_000017.9:g.1177187_1177188ins chr17 5405474 5405786 RIP_Alu_chr17_005_01 - NC_000017.9:g.5405475_5405786del chr17 6363098 6363414 RIP_Alu_chr17_006_01 + NC_000017.9:g.6363099_6363414del chr17 6815459 6815758 RIP_Alu_chr17_006_02 + NC_000017.9:g.6815460_6815758del chr17 10144158 10144496 RIP_Alu_chr17_010_01 + NC_000017.9:g.10144159_10144496del chr17 12137316 12137621 RIP_Alu_chr17_012_01 + NC_000017.9:g.12137317_12137621del chr17 13161222 13161529 RIP_Alu_chr17_013_01 - NC_000017.9:g.13161223_13161529del chr17 13645284 13645574 RIP_Alu_chr17_013_02 - NC_000017.9:g.13645285_13645574del chr17 14358666 14358668 RIP_Alu_chr17_014_01 - NC_000017.9:g.14358667_14358668ins chr17 14468378 14468380 RIP_Alu_chr17_014_04 + NC_000017.9:g.14468379_14468380ins chr17 14688274 14688578 RIP_Alu_chr17_014_02 - NC_000017.9:g.14688275_14688578del chr17 14903684 14903992 RIP_Alu_chr17_014_03 + NC_000017.9:g.14903685_14903992del chr17 15471488 15471789 RIP_Alu_chr17_015_01 + NC_000017.9:g.15471489_15471789del chr17 15573200 15573501 RIP_Alu_chr17_015_03 + NC_000017.9:g.15573201_15573501del chr17 15804310 15804616 RIP_Alu_chr17_015_02 + NC_000017.9:g.15804311_15804616del chr17 18961712 18962005 RIP_Alu_chr17_018_01 - NC_000017.9:g.18961713_18962005del chr17 19484019 19484317 RIP_Alu_chr17_019_01 + NC_000017.9:g.19484020_19484317del chr17 26687732 26687735 RIP_Alu_chr17_026_01 + NC_000017.9:g.26687733_26687735del chr17 27362133 27362427 RIP_Alu_chr17_027_02 - NC_000017.9:g.27362134_27362427del chr17 27460863 27461168 RIP_Alu_chr17_027_01 + NC_000017.9:g.27460864_27461168del chr17 27917971 27917973 RIP_Alu_chr17_027_03 - NC_000017.9:g.27917972_27917973ins chr17 33650508 33650827 RIP_Alu_chr17_033_01 + NC_000017.9:g.33650509_33650827del chr17 38499346 38499348 RIP_Alu_chr17_038_01 - NC_000017.9:g.38499347_38499348ins chr17 40280044 40280339 RIP_Alu_chr17_040_01 + NC_000017.9:g.40280045_40280339del chr17 40921805 40922113 RIP_Alu_chr17_040_02 + NC_000017.9:g.40921806_40922113del chr17 41005378 41005683 RIP_Alu_chr17_041_01 - NC_000017.9:g.41005379_41005683del chr17 42890376 42890672 RIP_Alu_chr17_042_01 + NC_000017.9:g.42890377_42890672del chr17 43972219 43972221 RIP_Alu_chr17_043_01 + NC_000017.9:g.43972220_43972221ins chr17 44583451 44583771 RIP_Alu_chr17_044_01 + NC_000017.9:g.44583452_44583771del chr17 58095054 58095351 RIP_Alu_chr17_058_02 - NC_000017.9:g.58095055_58095351del chr17 58919631 58919633 RIP_Alu_chr17_058_01 - NC_000017.9:g.58919632_58919633ins chr17 60094397 60094709 RIP_Alu_chr17_060_01 - NC_000017.9:g.60094398_60094709del chr17 62361015 62361318 RIP_Alu_chr17_062_01 + NC_000017.9:g.62361016_62361318del chr17 62951326 62951646 RIP_Alu_chr17_062_02 - NC_000017.9:g.62951327_62951646del chr17 63425565 63425876 RIP_Alu_chr17_063_03 + NC_000017.9:g.63425566_63425876del chr17 63434826 63435133 RIP_Alu_chr17_063_01 + NC_000017.9:g.63434827_63435133del chr17 63599911 63600215 RIP_Alu_chr17_063_05 + NC_000017.9:g.63599912_63600215del chr17 63606369 63606623 RIP_Alu_chr17_063_04 + NC_000017.9:g.63606370_63606623del chr17 63718955 63719255 RIP_Alu_chr17_063_02 + NC_000017.9:g.63718956_63719255del chr17 64060400 64060716 RIP_Alu_chr17_064_02 - NC_000017.9:g.64060401_64060716del chr17 64599260 64599557 RIP_Alu_chr17_064_01 - NC_000017.9:g.64599261_64599557del chr17 64717904 64718224 RIP_Alu_chr17_064_03 - NC_000017.9:g.64717905_64718224del chr17 65671533 65671852 RIP_Alu_chr17_065_01 + NC_000017.9:g.65671534_65671852del chr17 67363748 67364061 RIP_Alu_chr17_067_01 + NC_000017.9:g.67363749_67364061del chr17 70131812 70131814 RIP_Alu_chr17_070_01 + NC_000017.9:g.70131813_70131814ins chr17 70551893 70552194 RIP_Alu_chr17_070_02 - NC_000017.9:g.70551894_70552194del chr17 71558418 71558420 RIP_Alu_chr17_071_01 - NC_000017.9:g.71558419_71558420ins chr17 72499124 72499434 RIP_Alu_chr17_072_01 - NC_000017.9:g.72499125_72499434del chr17 73499892 73500192 RIP_Alu_chr17_073_01 + NC_000017.9:g.73499893_73500192del chr17 78182446 78182749 RIP_Alu_chr17_078_01 - NC_000017.9:g.78182447_78182749del chr18 827117 827419 RIP_Alu_chr18_000_01 - NC_000018.8:g.827118_827419del chr18 1225789 1225791 RIP_Alu_chr18_001_01 + NC_000018.8:g.1225790_1225791ins chr18 9375403 9375715 RIP_Alu_chr18_009_01 + NC_000018.8:g.9375404_9375715del chr18 11961928 11962237 RIP_Alu_chr18_011_01 + NC_000018.8:g.11961929_11962237del chr18 12841195 12841511 RIP_Alu_chr18_012_01 + NC_000018.8:g.12841196_12841511del chr18 14364632 14364940 RIP_Alu_chr18_014_01 - NC_000018.8:g.14364633_14364940del chr18 21146491 21146802 RIP_Alu_chr18_021_01 + NC_000018.8:g.21146492_21146802del chr18 24081889 24082207 RIP_Alu_chr18_024_02 - NC_000018.8:g.24081890_24082207del chr18 24125816 24125818 RIP_Alu_chr18_024_01 + NC_000018.8:g.24125817_24125818ins chr18 24617755 24618064 RIP_Alu_chr18_024_03 + NC_000018.8:g.24617756_24618064del chr18 25883687 25884004 RIP_Alu_chr18_025_01 + NC_000018.8:g.25883688_25884004del chr18 29787206 29787208 RIP_Alu_chr18_029_01 + NC_000018.8:g.29787207_29787208ins chr18 30000716 30001040 RIP_Alu_chr18_030_01 + NC_000018.8:g.30000717_30001040del chr18 30915969 30916272 RIP_Alu_chr18_030_02 + NC_000018.8:g.30915970_30916272del chr18 34766543 34766545 RIP_Alu_chr18_034_01 + NC_000018.8:g.34766544_34766545ins chr18 35315643 35315961 RIP_Alu_chr18_035_01 + NC_000018.8:g.35315644_35315961del chr18 37441994 37442319 RIP_Alu_chr18_037_01 + NC_000018.8:g.37441995_37442319del chr18 39707439 39707753 RIP_Alu_chr18_039_01 + NC_000018.8:g.39707440_39707753del chr18 42592430 42592753 RIP_Alu_chr18_042_01 - NC_000018.8:g.42592431_42592753del chr18 43353905 43354204 RIP_Alu_chr18_043_01 + NC_000018.8:g.43353906_43354204del chr18 44250157 44250458 RIP_Alu_chr18_044_01 + NC_000018.8:g.44250158_44250458del chr18 45273865 45274171 RIP_Alu_chr18_045_01 + NC_000018.8:g.45273866_45274171del chr18 49179989 49180298 RIP_Alu_chr18_049_01 + NC_000018.8:g.49179990_49180298del chr18 52857190 52857192 RIP_Alu_chr18_052_01 + NC_000018.8:g.52857191_52857192ins chr18 53496936 53497152 RIP_Alu_chr18_053_03 + NC_000018.8:g.53496937_53497152del chr18 53822133 53822426 RIP_Alu_chr18_053_01 - NC_000018.8:g.53822134_53822426del chr18 53952589 53952901 RIP_Alu_chr18_053_02 - NC_000018.8:g.53952590_53952901del chr18 55409173 55409496 RIP_Alu_chr18_055_01 + NC_000018.8:g.55409174_55409496del chr18 55819848 55820148 RIP_Alu_chr18_055_02 - NC_000018.8:g.55819849_55820148del chr18 57879648 57879740 RIP_Alu_chr18_057_01 + NC_000018.8:g.57879649_57879740del chr18 60324775 60324777 RIP_Alu_chr18_060_02 - NC_000018.8:g.60324776_60324777ins chr18 60536759 60537061 RIP_Alu_chr18_060_01 - NC_000018.8:g.60536760_60537061del chr18 61684232 61684562 RIP_Alu_chr18_061_01 + NC_000018.8:g.61684233_61684562del chr18 63289849 63289851 RIP_Alu_chr18_063_01 - NC_000018.8:g.63289850_63289851ins chr18 64723473 64723475 RIP_Alu_chr18_064_01 + NC_000018.8:g.64723474_64723475ins chr18 66997719 66998038 RIP_Alu_chr18_066_01 + NC_000018.8:g.66997720_66998038del chr18 68047753 68048055 RIP_Alu_chr18_068_01 - NC_000018.8:g.68047754_68048055del chr18 68277655 68277990 RIP_Alu_chr18_068_02 + NC_000018.8:g.68277656_68277990del chr18 69424392 69424697 RIP_Alu_chr18_069_01 - NC_000018.8:g.69424393_69424697del chr18 70303421 70303748 RIP_Alu_chr18_070_01 - NC_000018.8:g.70303422_70303748del chr18 71699008 71699319 RIP_Alu_chr18_071_01 + NC_000018.8:g.71699009_71699319del chr18 72082926 72082928 RIP_Alu_chr18_072_01 - NC_000018.8:g.72082927_72082928ins chr18 74098283 74098604 RIP_Alu_chr18_074_01 + NC_000018.8:g.74098284_74098604del chr19 788876 789175 RIP_Alu_chr19_000_01 - NC_000019.8:g.788877_789175del chr19 3945559 3945871 RIP_Alu_chr19_003_01 + NC_000019.8:g.3945560_3945871del chr19 6103304 6103560 RIP_Alu_chr19_006_01 - NC_000019.8:g.6103305_6103560del chr19 8420424 8420718 RIP_Alu_chr19_008_01 - NC_000019.8:g.8420425_8420718del chr19 13340569 13340870 RIP_Alu_chr19_013_01 + NC_000019.8:g.13340570_13340870del chr19 19828361 19828664 RIP_Alu_chr19_019_01 - NC_000019.8:g.19828362_19828664del chr19 20037728 20038026 RIP_Alu_chr19_020_01 - NC_000019.8:g.20037729_20038026del chr19 20537826 20537828 RIP_Alu_chr19_020_02 - NC_000019.8:g.20537827_20537828ins chr19 22559996 22560310 RIP_Alu_chr19_022_01 - NC_000019.8:g.22559997_22560310del chr19 22626861 22627023 RIP_Alu_chr19_022_02 - NC_000019.8:g.22626862_22627023del chr19 23112642 23112945 RIP_Alu_chr19_023_01 + NC_000019.8:g.23112643_23112945del chr19 35709188 35709490 RIP_Alu_chr19_035_01 + NC_000019.8:g.35709189_35709490del chr19 41738034 41738337 RIP_Alu_chr19_041_01 - NC_000019.8:g.41738035_41738337del chr19 44791221 44791519 RIP_Alu_chr19_044_01 + NC_000019.8:g.44791222_44791519del chr19 56149287 56149596 RIP_Alu_chr19_056_01 + NC_000019.8:g.56149288_56149596del chr19 56468218 56468513 RIP_Alu_chr19_056_03 + NC_000019.8:g.56468219_56468513del chr19 56552456 56552458 RIP_Alu_chr19_056_02 - NC_000019.8:g.56552457_56552458ins chr19 58015174 58015481 RIP_Alu_chr19_058_02 - NC_000019.8:g.58015175_58015481del chr19 58512613 58512916 RIP_Alu_chr19_058_01 - NC_000019.8:g.58512614_58512916del chr19 61803371 61803676 RIP_Alu_chr19_061_01 - NC_000019.8:g.61803372_61803676del chr19 62117340 62117342 RIP_Alu_chr19_062_01 + NC_000019.8:g.62117341_62117342ins chr2 642671 642673 RIP_Alu_chr2_000_01 + NC_000002.10:g.642672_642673ins chr2 5159787 5160102 RIP_Alu_chr2_005_02 + NC_000002.10:g.5126641_5126955del chr2 5438379 5438633 RIP_Alu_chr2_005_01 - NC_000002.10:g.5405233_5405486del chr2 8567408 8567699 RIP_Alu_chr2_008_01 + NC_000002.10:g.8534262_8534552del chr2 9909834 9910171 RIP_Alu_chr2_009_01 - NC_000002.10:g.9876688_9877024del chr2 11376972 11376974 RIP_Alu_chr2_011_01 - NC_000002.10:g.11343826_11343827ins chr2 20588305 20588600 RIP_Alu_chr2_020_01 + NC_000002.10:g.20530159_20530453del chr2 21484444 21484735 RIP_Alu_chr2_021_01 + NC_000002.10:g.21426298_21426588del chr2 21708478 21708480 RIP_Alu_chr2_021_02 + NC_000002.10:g.21650332_21650333ins chr2 28265602 28265898 RIP_Alu_chr2_028_01 - NC_000002.10:g.28207456_28207751del chr2 31863860 31863862 RIP_Alu_chr2_031_01 + NC_000002.10:g.31805714_31805715ins chr2 33692950 33693264 RIP_Alu_chr2_033_01 - NC_000002.10:g.33634804_33635117del chr2 34555298 34555588 RIP_Alu_chr2_034_02 - NC_000002.10:g.34497152_34497441del chr2 34946104 34946333 RIP_Alu_chr2_034_01 - NC_000002.10:g.34887958_34888186del chr2 36002172 36002478 RIP_Alu_chr2_036_02 + NC_000002.10:g.35944026_35944331del chr2 36867323 36867627 RIP_Alu_chr2_036_01 + NC_000002.10:g.36809177_36809480del chr2 38763083 38763379 RIP_Alu_chr2_038_02 - NC_000002.10:g.38704937_38705232del chr2 38983140 38983470 RIP_Alu_chr2_038_01 + NC_000002.10:g.38924994_38925323del chr2 39226989 39226991 RIP_Alu_chr2_039_02 - NC_000002.10:g.39168843_39168844ins chr2 39504226 39504535 RIP_Alu_chr2_039_01 - NC_000002.10:g.39446080_39446388del chr2 40889800 40890122 RIP_Alu_chr2_040_01 - NC_000002.10:g.40831654_40831975del chr2 41854249 41854566 RIP_Alu_chr2_041_01 + NC_000002.10:g.41796103_41796419del chr2 43570632 43570945 RIP_Alu_chr2_043_01 - NC_000002.10:g.43512486_43512798del chr2 44695251 44695559 RIP_Alu_chr2_044_01 - NC_000002.10:g.44637105_44637412del chr2 49524548 49524856 RIP_Alu_chr2_049_01 - NC_000002.10:g.49466402_49466709del chr2 50620550 50620856 RIP_Alu_chr2_050_01 - NC_000002.10:g.50562404_50562709del chr2 54605144 54605393 RIP_Alu_chr2_054_01 + NC_000002.10:g.54546998_54547246del chr2 55995192 55995494 RIP_Alu_chr2_055_01 - NC_000002.10:g.55937046_55937347del chr2 57254393 57254707 RIP_Alu_chr2_057_01 - NC_000002.10:g.57196247_57196560del chr2 63690885 63690887 RIP_Alu_chr2_063_01 - NC_000002.10:g.63632739_63632740ins chr2 65011696 65011698 RIP_Alu_chr2_065_02 - NC_000002.10:g.64953550_64953551ins chr2 65245452 65245454 RIP_Alu_chr2_065_03 + NC_000002.10:g.65187306_65187307ins chr2 65719169 65719468 RIP_Alu_chr2_065_01 - NC_000002.10:g.65661023_65661321del chr2 74037144 74037146 RIP_Alu_chr2_074_01 + NC_000002.10:g.73978998_73978999ins chr2 77888438 77888746 RIP_Alu_chr2_077_01 + NC_000002.10:g.77830292_77830599del chr2 78969312 78969638 RIP_Alu_chr2_078_01 - NC_000002.10:g.78911166_78911491del chr2 81665269 81665567 RIP_Alu_chr2_081_01 + NC_000002.10:g.81607123_81607420del chr2 82252115 82252423 RIP_Alu_chr2_082_01 - NC_000002.10:g.82193969_82194276del chr2 84640412 84640414 RIP_Alu_chr2_084_02 + NC_000002.10:g.84582266_84582267ins chr2 84670110 84670391 RIP_Alu_chr2_084_01 - NC_000002.10:g.84611964_84612244del chr2 85247027 85247333 RIP_Alu_chr2_085_01 + NC_000002.10:g.85188881_85189186del chr2 85430775 85431100 RIP_Alu_chr2_085_02 - NC_000002.10:g.85372629_85372953del chr2 87238318 87238640 RIP_Alu_chr2_087_01 + NC_000002.10:g.87180172_87180493del chr2 87251372 87251685 RIP_Alu_chr2_087_02 + NC_000002.10:g.87193226_87193538del chr2 89699325 89699631 RIP_Alu_chr2_089_01 + NC_000002.10:g.89641179_89641484del chr2 91111415 91111724 RIP_Alu_chr2_091_01 - NC_000002.10:g.91053269_91053577del chr2 95781596 95781908 RIP_Alu_chr2_095_01 - NC_000002.10:g.95723450_95723761del chr2 99211497 99211818 RIP_Alu_chr2_099_01 + NC_000002.10:g.99119412_99119732del chr2 101433731 101434054 RIP_Alu_chr2_101_01 + NC_000002.10:g.101341646_101341968del chr2 101556370 101556683 RIP_Alu_chr2_101_02 - NC_000002.10:g.101464285_101464597del chr2 102781013 102781336 RIP_Alu_chr2_102_01 + NC_000002.10:g.102688928_102689250del chr2 107384913 107385240 RIP_Alu_chr2_107_01 + NC_000002.10:g.107292828_107293154del chr2 113332290 113332598 RIP_Alu_chr2_113_02 + NC_000002.10:g.113332531_113332838del chr2 113913681 113913990 RIP_Alu_chr2_113_01 - NC_000002.10:g.113913922_113914230del chr2 114078896 114079200 RIP_Alu_chr2_114_01 - NC_000002.10:g.114079137_114079440del chr2 115388655 115388958 RIP_Alu_chr2_115_01 + NC_000002.10:g.115388896_115389198del chr2 116903355 116903357 RIP_Alu_chr2_116_01 + NC_000002.10:g.116903596_116903597ins chr2 117609292 117609619 RIP_Alu_chr2_117_01 + NC_000002.10:g.117609533_117609859del chr2 118622373 118622511 RIP_Alu_chr2_118_01 + NC_000002.10:g.118622614_118622751del chr2 121773077 121774299 RIP_Alu_chr2_121_01 - NC_000002.10:g.121773318_121774539del chr2 128587501 128587799 RIP_Alu_chr2_128_01 + NC_000002.10:g.128587742_128588039del chr2 134294010 134294303 RIP_Alu_chr2_134_01 - NC_000002.10:g.134176749_134177041del chr2 134378022 134378338 RIP_Alu_chr2_134_02 + NC_000002.10:g.134260761_134261076del chr2 142184734 142185055 RIP_Alu_chr2_142_01 + NC_000002.10:g.142067473_142067793del chr2 144991320 144991322 RIP_Alu_chr2_144_01 - NC_000002.10:g.144874059_144874060ins chr2 145180499 145180501 RIP_Alu_chr2_145_01 + NC_000002.10:g.145063238_145063239ins chr2 150452492 150452802 RIP_Alu_chr2_150_01 - NC_000002.10:g.150335231_150335540del chr2 150584816 150585129 RIP_Alu_chr2_150_03 + NC_000002.10:g.150467555_150467867del chr2 150589759 150589761 RIP_Alu_chr2_150_02 + NC_000002.10:g.150472498_150472499ins chr2 152442808 152443111 RIP_Alu_chr2_152_01 - NC_000002.10:g.152325547_152325849del chr2 154578122 154578124 RIP_Alu_chr2_154_01 - NC_000002.10:g.154460861_154460862ins chr2 158544607 158544904 RIP_Alu_chr2_158_01 + NC_000002.10:g.158427346_158427642del chr2 160681369 160681681 RIP_Alu_chr2_160_01 - NC_000002.10:g.160564109_160564420del chr2 161621116 161621431 RIP_Alu_chr2_161_01 - NC_000002.10:g.161503856_161504170del chr2 163491927 163492230 RIP_Alu_chr2_163_01 - NC_000002.10:g.163374667_163374969del chr2 163504133 163504135 RIP_Alu_chr2_163_02 + NC_000002.10:g.163386873_163386874ins chr2 166093029 166093339 RIP_Alu_chr2_166_01 + NC_000002.10:g.165975769_165976078del chr2 169220983 169221281 RIP_Alu_chr2_169_01 - NC_000002.10:g.169103723_169104020del chr2 169711742 169712055 RIP_Alu_chr2_169_02 - NC_000002.10:g.169594482_169594794del chr2 171165394 171165664 RIP_Alu_chr2_171_01 - NC_000002.10:g.171048134_171048403del chr2 173977250 173977552 RIP_Alu_chr2_173_01 - NC_000002.10:g.173859990_173860291del chr2 174916146 174916452 RIP_Alu_chr2_174_01 + NC_000002.10:g.174798886_174799191del chr2 178144235 178144237 RIP_Alu_chr2_178_01 - NC_000002.10:g.178026975_178026976ins chr2 178176972 178176974 RIP_Alu_chr2_178_02 - NC_000002.10:g.178059712_178059713ins chr2 181751342 181751655 RIP_Alu_chr2_181_01 - NC_000002.10:g.181634082_181634394del chr2 182087705 182087707 RIP_Alu_chr2_182_03 + NC_000002.10:g.181970445_181970446ins chr2 182181488 182181792 RIP_Alu_chr2_182_01 + NC_000002.10:g.182064228_182064531del chr2 182390760 182391074 RIP_Alu_chr2_182_02 - NC_000002.10:g.182273500_182273813del chr2 184075486 184075815 RIP_Alu_chr2_184_01 - NC_000002.10:g.183958226_183958554del chr2 189679462 189679464 RIP_Alu_chr2_189_02 + NC_000002.10:g.189562202_189562203ins chr2 189784927 189784929 RIP_Alu_chr2_189_01 + NC_000002.10:g.189667667_189667668ins chr2 191506299 191506380 RIP_Alu_chr2_191_01 - NC_000002.10:g.191389039_191389119del chr2 192384918 192385237 RIP_Alu_chr2_192_01 + NC_000002.10:g.192267658_192267976del chr2 192387710 192388035 RIP_Alu_chr2_192_02 + NC_000002.10:g.192270450_192270774del chr2 194224013 194224339 RIP_Alu_chr2_194_01 + NC_000002.10:g.194106753_194107078del chr2 195303143 195303241 RIP_Alu_chr2_195_01 - NC_000002.10:g.195185883_195185980del chr2 195856825 195857120 RIP_Alu_chr2_195_02 - NC_000002.10:g.195739565_195739859del chr2 196561932 196562196 RIP_Alu_chr2_196_01 + NC_000002.10:g.196444672_196444935del chr2 202456965 202456967 RIP_Alu_chr2_202_02 + NC_000002.10:g.202339705_202339706ins chr2 202547169 202547475 RIP_Alu_chr2_202_01 + NC_000002.10:g.202429909_202430214del chr2 203543304 203543598 RIP_Alu_chr2_203_01 + NC_000002.10:g.203426044_203426337del chr2 204389185 204389486 RIP_Alu_chr2_204_01 + NC_000002.10:g.204271925_204272225del chr2 206556704 206557011 RIP_Alu_chr2_206_01 + NC_000002.10:g.206439444_206439750del chr2 207716171 207716488 RIP_Alu_chr2_207_01 + NC_000002.10:g.207598911_207599227del chr2 208392729 208393036 RIP_Alu_chr2_208_01 - NC_000002.10:g.208275469_208275775del chr2 208784625 208784959 RIP_Alu_chr2_208_03 - NC_000002.10:g.208667365_208667698del chr2 208886673 208886983 RIP_Alu_chr2_208_02 - NC_000002.10:g.208769413_208769722del chr2 209277236 209277550 RIP_Alu_chr2_209_01 - NC_000002.10:g.209159976_209160289del chr2 212376764 212377048 RIP_Alu_chr2_212_01 - NC_000002.10:g.212259504_212259787del chr2 213400191 213400483 RIP_Alu_chr2_213_01 + NC_000002.10:g.213282931_213283222del chr2 214600721 214601017 RIP_Alu_chr2_214_01 - NC_000002.10:g.214483461_214483756del chr2 215597029 215597332 RIP_Alu_chr2_215_01 + NC_000002.10:g.215479769_215480071del chr2 216918314 216918617 RIP_Alu_chr2_216_01 - NC_000002.10:g.216801054_216801356del chr2 218371663 218371962 RIP_Alu_chr2_218_01 + NC_000002.10:g.218254403_218254701del chr2 223622871 223623180 RIP_Alu_chr2_223_01 + NC_000002.10:g.223505611_223505919del chr2 224298618 224298839 RIP_Alu_chr2_224_01 + NC_000002.10:g.224181358_224181578del chr2 226843077 226843311 RIP_Alu_chr2_226_01 - NC_000002.10:g.226725817_226726050del chr2 231150813 231151142 RIP_Alu_chr2_231_02 - NC_000002.10:g.231033553_231033881del chr2 231821699 231822005 RIP_Alu_chr2_231_01 + NC_000002.10:g.231704439_231704744del chr2 233493890 233494181 RIP_Alu_chr2_233_01 - NC_000002.10:g.233376630_233376920del chr2 235876682 235877000 RIP_Alu_chr2_235_01 + NC_000002.10:g.235759422_235759739del chr2 240678943 240679251 RIP_Alu_chr2_240_01 + NC_000002.10:g.240607627_240607934del chr20 2462990 2463089 RIP_Alu_chr20_002_01 + NC_000020.9:g.2462991_2463089del chr20 2812015 2812321 RIP_Alu_chr20_002_02 + NC_000020.9:g.2812016_2812321del chr20 5890999 5891316 RIP_Alu_chr20_005_01 - NC_000020.9:g.5891000_5891316del chr20 6098952 6099279 RIP_Alu_chr20_006_01 + NC_000020.9:g.6098953_6099279del chr20 7222349 7222649 RIP_Alu_chr20_007_01 - NC_000020.9:g.7222350_7222649del chr20 9553205 9553207 RIP_Alu_chr20_009_01 + NC_000020.9:g.9553206_9553207ins chr20 11465277 11465588 RIP_Alu_chr20_011_01 + NC_000020.9:g.11465278_11465588del chr20 14477080 14477382 RIP_Alu_chr20_014_01 + NC_000020.9:g.14477081_14477382del chr20 14928986 14929305 RIP_Alu_chr20_014_02 + NC_000020.9:g.14928987_14929305del chr20 17051449 17051774 RIP_Alu_chr20_017_01 - NC_000020.9:g.17051450_17051774del chr20 19009429 19009729 RIP_Alu_chr20_019_01 - NC_000020.9:g.19009430_19009729del chr20 20223289 20223614 RIP_Alu_chr20_020_01 + NC_000020.9:g.20223290_20223614del chr20 22603336 22603650 RIP_Alu_chr20_022_01 + NC_000020.9:g.22603337_22603650del chr20 24217609 24217829 RIP_Alu_chr20_024_01 - NC_000020.9:g.24217610_24217829del chr20 26009337 26009645 RIP_Alu_chr20_026_01 + NC_000020.9:g.26009338_26009645del chr20 26097019 26097313 RIP_Alu_chr20_026_02 + NC_000020.9:g.26097020_26097313del chr20 30362895 30363195 RIP_Alu_chr20_030_01 + NC_000020.9:g.30362896_30363195del chr20 31798799 31799110 RIP_Alu_chr20_031_01 + NC_000020.9:g.31798800_31799110del chr20 32579491 32579805 RIP_Alu_chr20_032_01 + NC_000020.9:g.32579492_32579805del chr20 34722361 34722677 RIP_Alu_chr20_034_01 - NC_000020.9:g.34722362_34722677del chr20 35042236 35042539 RIP_Alu_chr20_035_02 + NC_000020.9:g.35042237_35042539del chr20 35249036 35249335 RIP_Alu_chr20_035_01 + NC_000020.9:g.35249037_35249335del chr20 36572683 36572983 RIP_Alu_chr20_036_01 + NC_000020.9:g.36572684_36572983del chr20 37771060 37771183 RIP_Alu_chr20_037_01 + NC_000020.9:g.37771061_37771183del chr20 40377145 40377267 RIP_Alu_chr20_040_01 + NC_000020.9:g.40377146_40377267del chr20 44560937 44561246 RIP_Alu_chr20_044_01 + NC_000020.9:g.44560938_44561246del chr20 45452485 45452800 RIP_Alu_chr20_045_01 - NC_000020.9:g.45452486_45452800del chr20 46978146 46978441 RIP_Alu_chr20_046_01 - NC_000020.9:g.46978147_46978441del chr20 52726071 52726372 RIP_Alu_chr20_052_01 - NC_000020.9:g.52726072_52726372del chr20 53195256 53195258 RIP_Alu_chr20_053_02 + NC_000020.9:g.53195257_53195258ins chr20 53896640 53896944 RIP_Alu_chr20_053_01 - NC_000020.9:g.53896641_53896944del chr20 57156848 57157173 RIP_Alu_chr20_057_02 + NC_000020.9:g.57156849_57157173del chr20 57219305 57219515 RIP_Alu_chr20_057_01 + NC_000020.9:g.57219306_57219515del chr20 58360122 58360431 RIP_Alu_chr20_058_01 + NC_000020.9:g.58360123_58360431del chr20 59407574 59407882 RIP_Alu_chr20_059_02 - NC_000020.9:g.59407575_59407882del chr20 59959696 59959988 RIP_Alu_chr20_059_01 + NC_000020.9:g.59959697_59959988del chr20 60004032 60004338 RIP_Alu_chr20_060_01 + NC_000020.9:g.60004033_60004338del chr21 9991026 9991309 RIP_Alu_chr21_009_01 + NC_000021.7:g.9991027_9991309del chr21 13338189 13338504 RIP_Alu_chr21_013_02 - NC_000021.7:g.13338190_13338504del chr21 13502315 13502621 RIP_Alu_chr21_013_01 - NC_000021.7:g.13502316_13502621del chr21 16444093 16444411 RIP_Alu_chr21_016_01 - NC_000021.7:g.16444094_16444411del chr21 23664116 23664417 RIP_Alu_chr21_023_01 + NC_000021.7:g.23664117_23664417del chr21 23750830 23751057 RIP_Alu_chr21_023_02 + NC_000021.7:g.23750831_23751057del chr21 29185636 29185974 RIP_Alu_chr21_029_02 + NC_000021.7:g.29185637_29185974del chr21 29523695 29524027 RIP_Alu_chr21_029_01 + NC_000021.7:g.29523696_29524027del chr21 31014757 31014992 RIP_Alu_chr21_031_01 - NC_000021.7:g.31014758_31014992del chr21 31706105 31706107 RIP_Alu_chr21_031_02 - NC_000021.7:g.31706106_31706107ins chr21 32389720 32389947 RIP_Alu_chr21_032_01 + NC_000021.7:g.32389721_32389947del chr21 36786318 36786628 RIP_Alu_chr21_036_01 + NC_000021.7:g.36786319_36786628del chr21 38014870 38015179 RIP_Alu_chr21_038_01 - NC_000021.7:g.38014871_38015179del chr21 38512411 38512742 RIP_Alu_chr21_038_02 - NC_000021.7:g.38512412_38512742del chr21 39266185 39266498 RIP_Alu_chr21_039_01 + NC_000021.7:g.39266186_39266498del chr21 40508748 40509060 RIP_Alu_chr21_040_01 + NC_000021.7:g.40508749_40509060del chr21 40672351 40672689 RIP_Alu_chr21_040_02 - NC_000021.7:g.40672352_40672689del chr21 41006071 41006290 RIP_Alu_chr21_041_02 + NC_000021.7:g.41006072_41006290del chr21 41324765 41325073 RIP_Alu_chr21_041_01 + NC_000021.7:g.41324766_41325073del chr21 43258978 43258980 RIP_Alu_chr21_043_01 + NC_000021.7:g.43258979_43258980ins chr21 46212099 46212400 RIP_Alu_chr21_046_01 + NC_000021.7:g.46212100_46212400del chr22 14728017 14728019 RIP_Alu_chr22_014_01 - NC_000022.9:g.14733464_14733465ins chr22 15409201 15409508 RIP_Alu_chr22_015_01 - NC_000022.9:g.15414648_15414954del chr22 16258796 16259115 RIP_Alu_chr22_016_02 - NC_000022.9:g.16264243_16264561del chr22 16421928 16422272 RIP_Alu_chr22_016_04 - NC_000022.9:g.16427375_16427718del chr22 16474085 16474380 RIP_Alu_chr22_016_01 + NC_000022.9:g.16479532_16479826del chr22 16658468 16658772 RIP_Alu_chr22_016_03 - NC_000022.9:g.16663915_16664218del chr22 29318421 29318649 RIP_Alu_chr22_029_01 - NC_000022.9:g.29323868_29324095del chr22 31620325 31620630 RIP_Alu_chr22_031_01 + NC_000022.9:g.31625772_31626076del chr22 35451588 35451747 RIP_Alu_chr22_035_01 - NC_000022.9:g.35457035_35457193del chr22 40464990 40465300 RIP_Alu_chr22_040_01 - NC_000022.9:g.40470437_40470746del chr22 41230469 41230766 RIP_Alu_chr22_041_02 - NC_000022.9:g.41235916_41236212del chr22 41873842 41874153 RIP_Alu_chr22_041_01 - NC_000022.9:g.41879289_41879599del chr22 49534174 49534310 RIP_Alu_chr22_049_01 + NC_000022.9:g.49590897_49591032del chr3 377927 377929 RIP_Alu_chr3_000_02 + NC_000003.10:g.377928_377929ins chr3 636724 637017 RIP_Alu_chr3_000_01 + NC_000003.10:g.636725_637017del chr3 1476419 1476421 RIP_Alu_chr3_001_02 - NC_000003.10:g.1476420_1476421ins chr3 1581421 1581423 RIP_Alu_chr3_001_01 + NC_000003.10:g.1581422_1581423ins chr3 2286629 2286932 RIP_Alu_chr3_002_02 - NC_000003.10:g.2286630_2286932del chr3 2608040 2608347 RIP_Alu_chr3_002_01 - NC_000003.10:g.2608041_2608347del chr3 3848216 3848533 RIP_Alu_chr3_003_01 + NC_000003.10:g.3848217_3848533del chr3 4180144 4180146 RIP_Alu_chr3_004_01 + NC_000003.10:g.4180145_4180146ins chr3 5250620 5250927 RIP_Alu_chr3_005_01 + NC_000003.10:g.5250621_5250927del chr3 6654967 6654969 RIP_Alu_chr3_006_01 - NC_000003.10:g.6654968_6654969ins chr3 10372474 10372805 RIP_Alu_chr3_010_01 + NC_000003.10:g.10372475_10372805del chr3 15269346 15269348 RIP_Alu_chr3_015_01 + NC_000003.10:g.15269347_15269348ins chr3 17706703 17707011 RIP_Alu_chr3_017_02 - NC_000003.10:g.17706704_17707011del chr3 17923556 17923862 RIP_Alu_chr3_017_01 + NC_000003.10:g.17923557_17923862del chr3 18730833 18731131 RIP_Alu_chr3_018_01 - NC_000003.10:g.18730834_18731131del chr3 19010455 19010457 RIP_Alu_chr3_019_01 + NC_000003.10:g.19010456_19010457ins chr3 21432511 21432825 RIP_Alu_chr3_021_01 - NC_000003.10:g.21432512_21432825del chr3 23061854 23062138 RIP_Alu_chr3_023_01 - NC_000003.10:g.23061855_23062138del chr3 23739076 23739391 RIP_Alu_chr3_023_02 + NC_000003.10:g.23739077_23739391del chr3 26761722 26762030 RIP_Alu_chr3_026_01 + NC_000003.10:g.26761723_26762030del chr3 31694295 31694602 RIP_Alu_chr3_031_01 + NC_000003.10:g.31694296_31694602del chr3 31856401 31856403 RIP_Alu_chr3_031_02 + NC_000003.10:g.31856402_31856403ins chr3 32178877 32179147 RIP_Alu_chr3_032_01 - NC_000003.10:g.32178878_32179147del chr3 35026674 35026989 RIP_Alu_chr3_035_01 - NC_000003.10:g.35026675_35026989del chr3 40216625 40216627 RIP_Alu_chr3_040_01 - NC_000003.10:g.40216626_40216627ins chr3 43006109 43006424 RIP_Alu_chr3_043_01 - NC_000003.10:g.43006110_43006424del chr3 48347329 48347331 RIP_Alu_chr3_048_01 + NC_000003.10:g.48347330_48347331ins chr3 49469290 49469609 RIP_Alu_chr3_049_01 - NC_000003.10:g.49469291_49469609del chr3 50038023 50038025 RIP_Alu_chr3_050_01 - NC_000003.10:g.50038024_50038025ins chr3 59100272 59100589 RIP_Alu_chr3_059_01 + NC_000003.10:g.59100273_59100589del chr3 61450099 61450411 RIP_Alu_chr3_061_01 - NC_000003.10:g.61450100_61450411del chr3 67772613 67772615 RIP_Alu_chr3_067_01 + NC_000003.10:g.67772614_67772615ins chr3 68953180 68953456 RIP_Alu_chr3_068_02 - NC_000003.10:g.68953181_68953456del chr3 68972904 68973185 RIP_Alu_chr3_068_01 + NC_000003.10:g.68972905_68973185del chr3 69928335 69928612 RIP_Alu_chr3_069_01 - NC_000003.10:g.69928336_69928612del chr3 72462415 72462696 RIP_Alu_chr3_072_01 + NC_000003.10:g.72462416_72462696del chr3 77068572 77068574 RIP_Alu_chr3_077_01 + NC_000003.10:g.77068573_77068574ins chr3 81428771 81429070 RIP_Alu_chr3_081_01 + NC_000003.10:g.81428772_81429070del chr3 81990196 81990502 RIP_Alu_chr3_081_02 + NC_000003.10:g.81990197_81990502del chr3 87603170 87603172 RIP_Alu_chr3_087_01 + NC_000003.10:g.87603171_87603172ins chr3 88692356 88692358 RIP_Alu_chr3_088_01 + NC_000003.10:g.88692357_88692358ins chr3 96598897 96599212 RIP_Alu_chr3_096_01 - NC_000003.10:g.96598898_96599212del chr3 98917817 98918127 RIP_Alu_chr3_098_01 + NC_000003.10:g.98917818_98918127del chr3 100209391 100209393 RIP_Alu_chr3_100_01 + NC_000003.10:g.100209392_100209393ins chr3 101659955 101659957 RIP_Alu_chr3_101_02 + NC_000003.10:g.101659956_101659957ins chr3 101893247 101893249 RIP_Alu_chr3_101_01 - NC_000003.10:g.101893248_101893249ins chr3 103766476 103766802 RIP_Alu_chr3_103_01 - NC_000003.10:g.103766477_103766802del chr3 104936085 104936087 RIP_Alu_chr3_104_01 - NC_000003.10:g.104936086_104936087ins chr3 105030611 105030921 RIP_Alu_chr3_105_01 - NC_000003.10:g.105030612_105030921del chr3 111702113 111702409 RIP_Alu_chr3_111_01 - NC_000003.10:g.111702114_111702409del chr3 111753718 111753720 RIP_Alu_chr3_111_02 + NC_000003.10:g.111753719_111753720ins chr3 112470167 112470169 RIP_Alu_chr3_112_01 + NC_000003.10:g.112470168_112470169ins chr3 113950090 113950402 RIP_Alu_chr3_113_01 - NC_000003.10:g.113950091_113950402del chr3 115336722 115337037 RIP_Alu_chr3_115_01 - NC_000003.10:g.115336723_115337037del chr3 115949172 115949481 RIP_Alu_chr3_115_02 + NC_000003.10:g.115949173_115949481del chr3 117757973 117758285 RIP_Alu_chr3_117_01 + NC_000003.10:g.117757974_117758285del chr3 121908163 121908165 RIP_Alu_chr3_121_01 - NC_000003.10:g.121908164_121908165ins chr3 123486133 123486135 RIP_Alu_chr3_123_02 - NC_000003.10:g.123486134_123486135ins chr3 123621140 123621458 RIP_Alu_chr3_123_01 + NC_000003.10:g.123621141_123621458del chr3 124719446 124719751 RIP_Alu_chr3_124_01 + NC_000003.10:g.124719447_124719751del chr3 125889211 125889213 RIP_Alu_chr3_125_01 - NC_000003.10:g.125889212_125889213ins chr3 126051362 126051364 RIP_Alu_chr3_126_02 + NC_000003.10:g.126051363_126051364ins chr3 126972112 126972411 RIP_Alu_chr3_126_01 + NC_000003.10:g.126972105_126972403del chr3 127841635 127841947 RIP_Alu_chr3_127_01 - NC_000003.10:g.127841628_127841939del chr3 128813227 128813541 RIP_Alu_chr3_128_01 - NC_000003.10:g.128813220_128813533del chr3 130667183 130667478 RIP_Alu_chr3_130_01 - NC_000003.10:g.130667176_130667470del chr3 131395392 131395697 RIP_Alu_chr3_131_01 + NC_000003.10:g.131395385_131395689del chr3 134972997 134973307 RIP_Alu_chr3_134_01 + NC_000003.10:g.134972990_134973299del chr3 142801305 142801307 RIP_Alu_chr3_142_01 - NC_000003.10:g.142801298_142801299ins chr3 145187981 145188291 RIP_Alu_chr3_145_01 + NC_000003.10:g.145187974_145188283del chr3 149111344 149111644 RIP_Alu_chr3_149_02 - NC_000003.10:g.149111337_149111636del chr3 149689184 149689492 RIP_Alu_chr3_149_01 - NC_000003.10:g.149689177_149689484del chr3 150049499 150049808 RIP_Alu_chr3_150_01 - NC_000003.10:g.150049492_150049800del chr3 150327083 150327398 RIP_Alu_chr3_150_02 + NC_000003.10:g.150327076_150327390del chr3 156131074 156131381 RIP_Alu_chr3_156_01 - NC_000003.10:g.156131067_156131373del chr3 156523376 156523378 RIP_Alu_chr3_156_02 - NC_000003.10:g.156523369_156523370ins chr3 164946876 164947175 RIP_Alu_chr3_164_01 - NC_000003.10:g.164946869_164947167del chr3 167030377 167030379 RIP_Alu_chr3_167_03 - NC_000003.10:g.167030370_167030371ins chr3 167845014 167845016 RIP_Alu_chr3_167_02 + NC_000003.10:g.167845007_167845008ins chr3 167872924 167872926 RIP_Alu_chr3_167_01 + NC_000003.10:g.167872917_167872918ins chr3 170957022 170957024 RIP_Alu_chr3_170_01 + NC_000003.10:g.170957015_170957016ins chr3 175893438 175893440 RIP_Alu_chr3_175_01 + NC_000003.10:g.175893431_175893432ins chr3 176098322 176098636 RIP_Alu_chr3_176_01 + NC_000003.10:g.176098315_176098628del chr3 177625733 177625735 RIP_Alu_chr3_177_01 + NC_000003.10:g.177625726_177625727ins chr3 179593746 179593748 RIP_Alu_chr3_179_01 + NC_000003.10:g.179593739_179593740ins chr3 182444603 182444918 RIP_Alu_chr3_182_01 + NC_000003.10:g.182444596_182444910del chr3 183477559 183477561 RIP_Alu_chr3_183_01 + NC_000003.10:g.183477552_183477553ins chr3 186500044 186500355 RIP_Alu_chr3_186_01 - NC_000003.10:g.186500037_186500347del chr3 187512324 187512647 RIP_Alu_chr3_187_01 + NC_000003.10:g.187512317_187512639del chr3 189381299 189381301 RIP_Alu_chr3_189_02 + NC_000003.10:g.189381292_189381293ins chr3 189787550 189787866 RIP_Alu_chr3_189_01 + NC_000003.10:g.189787543_189787858del chr3 191438121 191438411 RIP_Alu_chr3_191_02 - NC_000003.10:g.191438114_191438403del chr3 191773349 191773639 RIP_Alu_chr3_191_01 - NC_000003.10:g.191773342_191773631del chr3 192152508 192152823 RIP_Alu_chr3_192_01 + NC_000003.10:g.192152501_192152815del chr3 193338798 193339125 RIP_Alu_chr3_193_01 + NC_000003.10:g.193338791_193339117del chr3 193545895 193546193 RIP_Alu_chr3_193_02 + NC_000003.10:g.193545888_193546185del chr3 196096035 196096337 RIP_Alu_chr3_196_01 - NC_000003.10:g.196096028_196096329del chr4 253967 254238 RIP_Alu_chr4_000_01 + NC_000004.10:g.253968_254238del chr4 2904859 2904861 RIP_Alu_chr4_002_01 + NC_000004.10:g.2837652_2837653ins chr4 4159305 4159625 RIP_Alu_chr4_004_01 - NC_000004.10:g.4092135_4092454del chr4 9628577 9628809 RIP_Alu_chr4_009_01 + NC_000004.10:g.9561407_9561638del chr4 9633102 9633408 RIP_Alu_chr4_009_02 + NC_000004.10:g.9565932_9566237del chr4 16879033 16879335 RIP_Alu_chr4_016_01 - NC_000004.10:g.16811863_16812164del chr4 23397950 23398254 RIP_Alu_chr4_023_01 + NC_000004.10:g.23330780_23331083del chr4 26114898 26114900 RIP_Alu_chr4_026_01 - NC_000004.10:g.26047728_26047729ins chr4 28240568 28240879 RIP_Alu_chr4_028_01 + NC_000004.10:g.28173398_28173708del chr4 30882095 30882403 RIP_Alu_chr4_030_01 - NC_000004.10:g.30814925_30815232del chr4 36292486 36292803 RIP_Alu_chr4_036_01 + NC_000004.10:g.36146316_36146632del chr4 36665325 36665655 RIP_Alu_chr4_036_02 - NC_000004.10:g.36519155_36519484del chr4 36829872 36830178 RIP_Alu_chr4_036_03 + NC_000004.10:g.36683702_36684007del chr4 38853655 38853924 RIP_Alu_chr4_038_01 + NC_000004.10:g.38707485_38707753del chr4 40852191 40852193 RIP_Alu_chr4_040_01 + NC_000004.10:g.40706021_40706022ins chr4 41286139 41286222 RIP_Alu_chr4_041_02 - NC_000004.10:g.41139969_41140051del chr4 41928983 41928985 RIP_Alu_chr4_041_01 + NC_000004.10:g.41782813_41782814ins chr4 41928984 41928986 RIP_Alu_chr4_041_03 + NC_000004.10:g.41782814_41782815ins chr4 43240914 43240916 RIP_Alu_chr4_043_01 + NC_000004.10:g.43094744_43094745ins chr4 44350321 44350623 RIP_Alu_chr4_044_01 + NC_000004.10:g.44204151_44204452del chr4 44711649 44711827 RIP_Alu_chr4_044_02 - NC_000004.10:g.44565479_44565656del chr4 46509071 46509073 RIP_Alu_chr4_046_01 - NC_000004.10:g.46362901_46362902ins chr4 53063368 53063370 RIP_Alu_chr4_053_01 + NC_000004.10:g.52917198_52917199ins chr4 55323363 55323668 RIP_Alu_chr4_055_02 + NC_000004.10:g.55177193_55177497del chr4 55839488 55839817 RIP_Alu_chr4_055_01 - NC_000004.10:g.55693318_55693646del chr4 56212888 56212890 RIP_Alu_chr4_056_01 + NC_000004.10:g.56066718_56066719ins chr4 57932439 57932708 RIP_Alu_chr4_057_02 + NC_000004.10:g.57786269_57786537del chr4 57988957 57989270 RIP_Alu_chr4_057_01 + NC_000004.10:g.57842787_57843099del chr4 59448532 59448837 RIP_Alu_chr4_059_01 + NC_000004.10:g.59302362_59302666del chr4 61398006 61398324 RIP_Alu_chr4_061_01 - NC_000004.10:g.61251836_61252153del chr4 66584155 66584421 RIP_Alu_chr4_066_01 + NC_000004.10:g.66437985_66438250del chr4 66935381 66935383 RIP_Alu_chr4_066_02 + NC_000004.10:g.66789211_66789212ins chr4 68773544 68773546 RIP_Alu_chr4_068_02 + NC_000004.10:g.68627374_68627375ins chr4 68865672 68865980 RIP_Alu_chr4_068_01 - NC_000004.10:g.68719502_68719809del chr4 69971632 69971926 RIP_Alu_chr4_069_01 + NC_000004.10:g.69825462_69825755del chr4 70594433 70594435 RIP_Alu_chr4_070_01 + NC_000004.10:g.70448263_70448264ins chr4 73194677 73194991 RIP_Alu_chr4_073_01 - NC_000004.10:g.73048507_73048820del chr4 79516693 79516695 RIP_Alu_chr4_079_01 + NC_000004.10:g.79378539_79378540ins chr4 80562920 80563235 RIP_Alu_chr4_080_01 + NC_000004.10:g.80424766_80425080del chr4 81659714 81660044 RIP_Alu_chr4_081_01 - NC_000004.10:g.81521560_81521889del chr4 81813676 81813856 RIP_Alu_chr4_081_02 + NC_000004.10:g.81675522_81675701del chr4 82348708 82349015 RIP_Alu_chr4_082_01 + NC_000004.10:g.82210554_82210860del chr4 82987326 82987328 RIP_Alu_chr4_082_02 + NC_000004.10:g.82849172_82849173ins chr4 83697870 83697872 RIP_Alu_chr4_083_01 + NC_000004.10:g.83559716_83559717ins chr4 84578897 84579172 RIP_Alu_chr4_084_01 + NC_000004.10:g.84440743_84441017del chr4 87017947 87018257 RIP_Alu_chr4_087_01 - NC_000004.10:g.86879793_86880102del chr4 87423546 87423714 RIP_Alu_chr4_087_02 + NC_000004.10:g.87285392_87285559del chr4 87742871 87743163 RIP_Alu_chr4_087_03 + NC_000004.10:g.87604717_87605008del chr4 88389330 88389648 RIP_Alu_chr4_088_01 - NC_000004.10:g.88251176_88251493del chr4 89132827 89133131 RIP_Alu_chr4_089_02 - NC_000004.10:g.88994673_88994976del chr4 89394864 89395183 RIP_Alu_chr4_089_01 - NC_000004.10:g.89256710_89257028del chr4 90038650 90038960 RIP_Alu_chr4_090_01 + NC_000004.10:g.89900496_89900805del chr4 91739386 91739696 RIP_Alu_chr4_091_01 - NC_000004.10:g.91601232_91601541del chr4 93750255 93750562 RIP_Alu_chr4_093_01 - NC_000004.10:g.93612101_93612407del chr4 95856149 95856458 RIP_Alu_chr4_095_01 - NC_000004.10:g.95717995_95718303del chr4 97929291 97929599 RIP_Alu_chr4_097_01 + NC_000004.10:g.97791137_97791444del chr4 98254387 98254709 RIP_Alu_chr4_098_02 - NC_000004.10:g.98116233_98116554del chr4 98467833 98468148 RIP_Alu_chr4_098_03 + NC_000004.10:g.98329679_98329993del chr4 98490567 98490867 RIP_Alu_chr4_098_04 - NC_000004.10:g.98352413_98352712del chr4 98538454 98538760 RIP_Alu_chr4_098_01 + NC_000004.10:g.98400300_98400605del chr4 98947842 98948148 RIP_Alu_chr4_098_05 + NC_000004.10:g.98809688_98809993del chr4 100380227 100380555 RIP_Alu_chr4_100_02 + NC_000004.10:g.100242073_100242400del chr4 100427481 100427782 RIP_Alu_chr4_100_01 - NC_000004.10:g.100289327_100289627del chr4 100733984 100733986 RIP_Alu_chr4_100_03 - NC_000004.10:g.100595830_100595831ins chr4 101602028 101602288 RIP_Alu_chr4_101_01 - NC_000004.10:g.101463874_101464133del chr4 102398924 102398926 RIP_Alu_chr4_102_01 - NC_000004.10:g.102260770_102260771ins chr4 103490534 103490536 RIP_Alu_chr4_103_01 + NC_000004.10:g.103352380_103352381ins chr4 105102219 105102221 RIP_Alu_chr4_105_01 - NC_000004.10:g.104964065_104964066ins chr4 107777402 107777700 RIP_Alu_chr4_107_01 - NC_000004.10:g.107639248_107639545del chr4 109465293 109465579 RIP_Alu_chr4_109_01 - NC_000004.10:g.109327139_109327424del chr4 110856360 110856669 RIP_Alu_chr4_110_01 - NC_000004.10:g.110718206_110718514del chr4 111740824 111741136 RIP_Alu_chr4_111_01 - NC_000004.10:g.111602670_111602981del chr4 112166372 112166663 RIP_Alu_chr4_112_01 + NC_000004.10:g.112028218_112028508del chr4 113827591 113827885 RIP_Alu_chr4_113_01 + NC_000004.10:g.113689437_113689730del chr4 115982211 115982474 RIP_Alu_chr4_115_01 - NC_000004.10:g.115844057_115844319del chr4 117609090 117609401 RIP_Alu_chr4_117_01 - NC_000004.10:g.117470936_117471246del chr4 120371401 120371403 RIP_Alu_chr4_120_02 + NC_000004.10:g.120233247_120233248ins chr4 120374854 120375158 RIP_Alu_chr4_120_01 + NC_000004.10:g.120236700_120237003del chr4 121765264 121765575 RIP_Alu_chr4_121_01 - NC_000004.10:g.121627110_121627420del chr4 122166546 122166851 RIP_Alu_chr4_122_01 - NC_000004.10:g.122028392_122028696del chr4 126029355 126029662 RIP_Alu_chr4_126_01 + NC_000004.10:g.125891201_125891507del chr4 126224977 126225295 RIP_Alu_chr4_126_02 + NC_000004.10:g.126086823_126087140del chr4 129564853 129564855 RIP_Alu_chr4_129_01 + NC_000004.10:g.129426699_129426700ins chr4 133076803 133076805 RIP_Alu_chr4_133_03 - NC_000004.10:g.132938649_132938650ins chr4 133471657 133471964 RIP_Alu_chr4_133_01 - NC_000004.10:g.133333503_133333809del chr4 133977494 133977787 RIP_Alu_chr4_133_02 - NC_000004.10:g.133839340_133839632del chr4 134177217 134177528 RIP_Alu_chr4_134_02 + NC_000004.10:g.134039063_134039373del chr4 134499221 134499517 RIP_Alu_chr4_134_03 - NC_000004.10:g.134361067_134361362del chr4 134653164 134653468 RIP_Alu_chr4_134_01 - NC_000004.10:g.134515010_134515313del chr4 137576462 137576464 RIP_Alu_chr4_137_01 - NC_000004.10:g.137438308_137438309ins chr4 138301443 138301737 RIP_Alu_chr4_138_01 - NC_000004.10:g.138163289_138163582del chr4 138656609 138656611 RIP_Alu_chr4_138_02 + NC_000004.10:g.138518455_138518456ins chr4 142284544 142284846 RIP_Alu_chr4_142_01 + NC_000004.10:g.142146390_142146691del chr4 144930905 144931219 RIP_Alu_chr4_144_01 - NC_000004.10:g.144792751_144793064del chr4 147816646 147816959 RIP_Alu_chr4_147_01 - NC_000004.10:g.147678492_147678804del chr4 148613651 148613653 RIP_Alu_chr4_148_01 - NC_000004.10:g.148475497_148475498ins chr4 150518660 150518986 RIP_Alu_chr4_150_01 + NC_000004.10:g.150380506_150380831del chr4 151308644 151308954 RIP_Alu_chr4_151_01 + NC_000004.10:g.151170490_151170799del chr4 151369243 151369245 RIP_Alu_chr4_151_03 + NC_000004.10:g.151231089_151231090ins chr4 151831553 151831856 RIP_Alu_chr4_151_02 + NC_000004.10:g.151693399_151693701del chr4 157359648 157359948 RIP_Alu_chr4_157_01 - NC_000004.10:g.157221494_157221793del chr4 160986079 160986081 RIP_Alu_chr4_160_01 + NC_000004.10:g.160847925_160847926ins chr4 163590018 163590319 RIP_Alu_chr4_163_01 + NC_000004.10:g.163451864_163452164del chr4 165115367 165115369 RIP_Alu_chr4_165_01 + NC_000004.10:g.164977213_164977214ins chr4 167252892 167253194 RIP_Alu_chr4_167_01 - NC_000004.10:g.167114738_167115039del chr4 167465707 167466034 RIP_Alu_chr4_167_02 - NC_000004.10:g.167327553_167327879del chr4 167696403 167696405 RIP_Alu_chr4_167_04 - NC_000004.10:g.167558249_167558250ins chr4 167769647 167769744 RIP_Alu_chr4_167_03 - NC_000004.10:g.167631493_167631589del chr4 171209327 171209329 RIP_Alu_chr4_171_01 + NC_000004.10:g.171071173_171071174ins chr4 172263599 172263904 RIP_Alu_chr4_172_01 + NC_000004.10:g.172125445_172125749del chr4 175161436 175161438 RIP_Alu_chr4_175_02 + NC_000004.10:g.175023282_175023283ins chr4 175909034 175909036 RIP_Alu_chr4_175_01 - NC_000004.10:g.175770880_175770881ins chr4 178244480 178244783 RIP_Alu_chr4_178_03 + NC_000004.10:g.178106326_178106628del chr4 178531985 178532305 RIP_Alu_chr4_178_01 - NC_000004.10:g.178393831_178394150del chr4 178889405 178889712 RIP_Alu_chr4_178_02 + NC_000004.10:g.178751251_178751557del chr4 180632117 180632119 RIP_Alu_chr4_180_01 - NC_000004.10:g.180493963_180493964ins chr4 181692437 181692603 RIP_Alu_chr4_181_02 - NC_000004.10:g.181554283_181554448del chr4 181878184 181878186 RIP_Alu_chr4_181_03 - NC_000004.10:g.181740030_181740031ins chr4 181924588 181924891 RIP_Alu_chr4_181_01 - NC_000004.10:g.181786434_181786736del chr4 184678851 184679158 RIP_Alu_chr4_184_01 - NC_000004.10:g.184540697_184541003del chr4 185130001 185130300 RIP_Alu_chr4_185_01 + NC_000004.10:g.184991847_184992145del chr4 188170859 188171167 RIP_Alu_chr4_188_01 - NC_000004.10:g.188032705_188033012del chr4 189061315 189061317 RIP_Alu_chr4_189_01 - NC_000004.10:g.188923161_188923162ins chr4 190168402 190168707 RIP_Alu_chr4_190_01 + NC_000004.10:g.190030248_190030552del chr4 190344843 190345179 RIP_Alu_chr4_190_02 - NC_000004.10:g.190206689_190207024del chr4 190666579 190666886 RIP_Alu_chr4_190_03 - NC_000004.10:g.190528425_190528731del chr4 190999784 191000081 RIP_Alu_chr4_190_04 + NC_000004.10:g.190861630_190861926del chr5 4048198 4048200 RIP_Alu_chr5_004_01 + NC_000005.8:g.4048199_4048200ins chr5 6337534 6337536 RIP_Alu_chr5_006_02 - NC_000005.8:g.6337535_6337536ins chr5 6577386 6577694 RIP_Alu_chr5_006_01 + NC_000005.8:g.6577387_6577694del chr5 9464772 9465074 RIP_Alu_chr5_009_02 + NC_000005.8:g.9464773_9465074del chr5 9830992 9831290 RIP_Alu_chr5_009_01 - NC_000005.8:g.9830993_9831290del chr5 11392037 11392349 RIP_Alu_chr5_011_01 - NC_000005.8:g.11392038_11392349del chr5 12239499 12239791 RIP_Alu_chr5_012_01 - NC_000005.8:g.12239500_12239791del chr5 13908314 13908616 RIP_Alu_chr5_013_02 - NC_000005.8:g.13908315_13908616del chr5 13948091 13948379 RIP_Alu_chr5_013_01 + NC_000005.8:g.13948092_13948379del chr5 16769625 16769627 RIP_Alu_chr5_016_01 + NC_000005.8:g.16769626_16769627ins chr5 17959797 17960110 RIP_Alu_chr5_017_01 + NC_000005.8:g.17959798_17960110del chr5 18605920 18605922 RIP_Alu_chr5_018_02 - NC_000005.8:g.18605921_18605922ins chr5 18800817 18801139 RIP_Alu_chr5_018_01 + NC_000005.8:g.18800818_18801139del chr5 20054666 20054963 RIP_Alu_chr5_020_01 - NC_000005.8:g.20054667_20054963del chr5 21374011 21374302 RIP_Alu_chr5_021_02 - NC_000005.8:g.21374012_21374302del chr5 21687339 21687648 RIP_Alu_chr5_021_01 - NC_000005.8:g.21687340_21687648del chr5 22832381 22832685 RIP_Alu_chr5_022_01 - NC_000005.8:g.22832382_22832685del chr5 23449521 23449824 RIP_Alu_chr5_023_01 + NC_000005.8:g.23449522_23449824del chr5 24127378 24127689 RIP_Alu_chr5_024_01 + NC_000005.8:g.24127379_24127689del chr5 24488608 24488918 RIP_Alu_chr5_024_02 + NC_000005.8:g.24488609_24488918del chr5 25311167 25311477 RIP_Alu_chr5_025_02 + NC_000005.8:g.25311168_25311477del chr5 25813077 25813387 RIP_Alu_chr5_025_01 - NC_000005.8:g.25813078_25813387del chr5 26146958 26147271 RIP_Alu_chr5_026_01 + NC_000005.8:g.26146959_26147271del chr5 29475154 29475438 RIP_Alu_chr5_029_01 - NC_000005.8:g.29475155_29475438del chr5 29494735 29495052 RIP_Alu_chr5_029_02 - NC_000005.8:g.29494736_29495052del chr5 31713197 31713505 RIP_Alu_chr5_031_01 + NC_000005.8:g.31713198_31713505del chr5 32607278 32607280 RIP_Alu_chr5_032_01 + NC_000005.8:g.32607279_32607280ins chr5 33391331 33391651 RIP_Alu_chr5_033_01 - NC_000005.8:g.33391332_33391651del chr5 35945005 35945007 RIP_Alu_chr5_035_01 - NC_000005.8:g.35945006_35945007ins chr5 37329575 37329887 RIP_Alu_chr5_037_01 + NC_000005.8:g.37329576_37329887del chr5 39328736 39328738 RIP_Alu_chr5_039_01 - NC_000005.8:g.39328737_39328738ins chr5 45641874 45641876 RIP_Alu_chr5_045_01 - NC_000005.8:g.45641875_45641876ins chr5 52267544 52267862 RIP_Alu_chr5_052_01 - NC_000005.8:g.52267545_52267862del chr5 53212697 53212990 RIP_Alu_chr5_053_01 + NC_000005.8:g.53212698_53212990del chr5 55963736 55963738 RIP_Alu_chr5_055_01 + NC_000005.8:g.55963737_55963738ins chr5 57958936 57959100 RIP_Alu_chr5_057_01 + NC_000005.8:g.57958937_57959100del chr5 61329396 61329710 RIP_Alu_chr5_061_01 + NC_000005.8:g.61329397_61329710del chr5 61812487 61812801 RIP_Alu_chr5_061_02 - NC_000005.8:g.61812488_61812801del chr5 61892874 61892876 RIP_Alu_chr5_061_03 + NC_000005.8:g.61892875_61892876ins chr5 62740206 62740517 RIP_Alu_chr5_062_01 + NC_000005.8:g.62740207_62740517del chr5 64058897 64058899 RIP_Alu_chr5_064_01 + NC_000005.8:g.64058898_64058899ins chr5 65381803 65382128 RIP_Alu_chr5_065_01 - NC_000005.8:g.65381804_65382128del chr5 69349591 69349593 RIP_Alu_chr5_069_01 + NC_000005.8:g.69349592_69349593ins chr5 70226684 70227001 RIP_Alu_chr5_070_01 - NC_000005.8:g.70226685_70227001del chr5 71952316 71952608 RIP_Alu_chr5_071_01 - NC_000005.8:g.71952317_71952608del chr5 73684751 73685059 RIP_Alu_chr5_073_01 - NC_000005.8:g.73684752_73685059del chr5 75471435 75471537 RIP_Alu_chr5_075_01 - NC_000005.8:g.75471436_75471537del chr5 77084114 77084437 RIP_Alu_chr5_077_01 - NC_000005.8:g.77084115_77084437del chr5 77098080 77098375 RIP_Alu_chr5_077_02 - NC_000005.8:g.77098081_77098375del chr5 77140987 77141306 RIP_Alu_chr5_077_03 + NC_000005.8:g.77140988_77141306del chr5 78128459 78128756 RIP_Alu_chr5_078_01 - NC_000005.8:g.78128460_78128756del chr5 78313494 78313801 RIP_Alu_chr5_078_02 - NC_000005.8:g.78313495_78313801del chr5 79049466 79049765 RIP_Alu_chr5_079_01 - NC_000005.8:g.79049467_79049765del chr5 79592953 79593258 RIP_Alu_chr5_079_02 + NC_000005.8:g.79592954_79593258del chr5 80786911 80787227 RIP_Alu_chr5_080_01 + NC_000005.8:g.80786912_80787227del chr5 81218245 81218578 RIP_Alu_chr5_081_01 - NC_000005.8:g.81218246_81218578del chr5 82192487 82192787 RIP_Alu_chr5_082_02 + NC_000005.8:g.82192488_82192787del chr5 82941830 82942134 RIP_Alu_chr5_082_01 - NC_000005.8:g.82941831_82942134del chr5 86408450 86408452 RIP_Alu_chr5_086_01 + NC_000005.8:g.86408451_86408452ins chr5 88067784 88068099 RIP_Alu_chr5_088_02 + NC_000005.8:g.88067785_88068099del chr5 88078909 88079222 RIP_Alu_chr5_088_01 - NC_000005.8:g.88078910_88079222del chr5 89896190 89896498 RIP_Alu_chr5_089_01 - NC_000005.8:g.89896191_89896498del chr5 90610457 90610742 RIP_Alu_chr5_090_01 - NC_000005.8:g.90610458_90610742del chr5 91516542 91516886 RIP_Alu_chr5_091_01 + NC_000005.8:g.91516543_91516886del chr5 95019975 95019977 RIP_Alu_chr5_095_02 - NC_000005.8:g.95019976_95019977ins chr5 95369081 95369421 RIP_Alu_chr5_095_01 + NC_000005.8:g.95369082_95369421del chr5 95935486 95935817 RIP_Alu_chr5_095_03 - NC_000005.8:g.95935487_95935817del chr5 97871849 97872150 RIP_Alu_chr5_097_01 + NC_000005.8:g.97871850_97872150del chr5 99202227 99202527 RIP_Alu_chr5_099_01 - NC_000005.8:g.99202228_99202527del chr5 99787374 99787677 RIP_Alu_chr5_099_03 + NC_000005.8:g.99787375_99787677del chr5 99951445 99951737 RIP_Alu_chr5_099_02 + NC_000005.8:g.99951446_99951737del chr5 101011951 101011987 RIP_Alu_chr5_101_01 + NC_000005.8:g.101011952_101011987del chr5 102191271 102191506 RIP_Alu_chr5_102_01 - NC_000005.8:g.102191272_102191506del chr5 103058465 103058778 RIP_Alu_chr5_103_02 + NC_000005.8:g.103058466_103058778del chr5 103090214 103090521 RIP_Alu_chr5_103_01 + NC_000005.8:g.103090215_103090521del chr5 103492324 103492326 RIP_Alu_chr5_103_03 + NC_000005.8:g.103492325_103492326ins chr5 109078903 109078905 RIP_Alu_chr5_109_02 + NC_000005.8:g.109078904_109078905ins chr5 109325004 109325307 RIP_Alu_chr5_109_01 - NC_000005.8:g.109325005_109325307del chr5 112198787 112198789 RIP_Alu_chr5_112_03 - NC_000005.8:g.112198788_112198789ins chr5 112203764 112203766 RIP_Alu_chr5_112_02 + NC_000005.8:g.112203765_112203766ins chr5 112909328 112909635 RIP_Alu_chr5_112_01 - NC_000005.8:g.112909329_112909635del chr5 114119980 114119982 RIP_Alu_chr5_114_01 + NC_000005.8:g.114119981_114119982ins chr5 115922046 115922356 RIP_Alu_chr5_115_01 - NC_000005.8:g.115922047_115922356del chr5 116456093 116456399 RIP_Alu_chr5_116_01 - NC_000005.8:g.116456094_116456399del chr5 119043055 119043363 RIP_Alu_chr5_119_01 - NC_000005.8:g.119043056_119043363del chr5 122302251 122302562 RIP_Alu_chr5_122_01 + NC_000005.8:g.122302252_122302562del chr5 125427897 125428200 RIP_Alu_chr5_125_01 - NC_000005.8:g.125427898_125428200del chr5 126970244 126970558 RIP_Alu_chr5_126_01 - NC_000005.8:g.126970245_126970558del chr5 128342753 128342755 RIP_Alu_chr5_128_01 + NC_000005.8:g.128342754_128342755ins chr5 131988137 131988491 RIP_Alu_chr5_131_01 + NC_000005.8:g.131988138_131988491del chr5 133790520 133790816 RIP_Alu_chr5_133_01 + NC_000005.8:g.133790521_133790816del chr5 135347080 135347082 RIP_Alu_chr5_135_01 - NC_000005.8:g.135347081_135347082ins chr5 141403952 141403954 RIP_Alu_chr5_141_01 - NC_000005.8:g.141403953_141403954ins chr5 142335195 142335197 RIP_Alu_chr5_142_02 + NC_000005.8:g.142335196_142335197ins chr5 142915572 142915871 RIP_Alu_chr5_142_01 + NC_000005.8:g.142915573_142915871del chr5 143333842 143334002 RIP_Alu_chr5_143_01 + NC_000005.8:g.143333843_143334002del chr5 144577236 144577535 RIP_Alu_chr5_144_01 + NC_000005.8:g.144577237_144577535del chr5 146349818 146349820 RIP_Alu_chr5_146_01 + NC_000005.8:g.146349819_146349820ins chr5 148076972 148076974 RIP_Alu_chr5_148_01 + NC_000005.8:g.148076973_148076974ins chr5 155223201 155223203 RIP_Alu_chr5_155_01 + NC_000005.8:g.155223202_155223203ins chr5 157385609 157385611 RIP_Alu_chr5_157_01 - NC_000005.8:g.157385610_157385611ins chr5 158524981 158525314 RIP_Alu_chr5_158_01 + NC_000005.8:g.158524982_158525314del chr5 160363891 160364214 RIP_Alu_chr5_160_01 - NC_000005.8:g.160363892_160364214del chr5 162164528 162164530 RIP_Alu_chr5_162_01 - NC_000005.8:g.162164529_162164530ins chr5 164298889 164299186 RIP_Alu_chr5_164_01 - NC_000005.8:g.164298890_164299186del chr5 166083340 166083646 RIP_Alu_chr5_166_01 - NC_000005.8:g.166083341_166083646del chr5 168327022 168327321 RIP_Alu_chr5_168_01 - NC_000005.8:g.168327023_168327321del chr5 168675116 168675338 RIP_Alu_chr5_168_02 + NC_000005.8:g.168675117_168675338del chr5 170133916 170133918 RIP_Alu_chr5_170_02 + NC_000005.8:g.170133917_170133918ins chr5 170790114 170790422 RIP_Alu_chr5_170_01 + NC_000005.8:g.170790115_170790422del chr5 172632852 172633165 RIP_Alu_chr5_172_01 + NC_000005.8:g.172632853_172633165del chr5 173539712 173540019 RIP_Alu_chr5_173_01 + NC_000005.8:g.173539713_173540019del chr5 174693410 174693412 RIP_Alu_chr5_174_01 + NC_000005.8:g.174693411_174693412ins chr5 177061521 177061814 RIP_Alu_chr5_177_01 - NC_000005.8:g.177061522_177061814del chr5 177313969 177314265 RIP_Alu_chr5_177_02 - NC_000005.8:g.177313970_177314265del chr6 2004658 2004955 RIP_Alu_chr6_002_01 + NC_000006.10:g.2004659_2004955del chr6 3995255 3995559 RIP_Alu_chr6_003_01 - NC_000006.10:g.3995256_3995559del chr6 6222353 6222601 RIP_Alu_chr6_006_01 + NC_000006.10:g.6222354_6222601del chr6 7662381 7662701 RIP_Alu_chr6_007_01 + NC_000006.10:g.7662382_7662701del chr6 8172937 8173240 RIP_Alu_chr6_008_01 - NC_000006.10:g.8172938_8173240del chr6 8959830 8959923 RIP_Alu_chr6_008_02 + NC_000006.10:g.8959831_8959923del chr6 9020294 9020607 RIP_Alu_chr6_009_03 - NC_000006.10:g.9020295_9020607del chr6 9371721 9371971 RIP_Alu_chr6_009_01 - NC_000006.10:g.9371722_9371971del chr6 9568377 9568700 RIP_Alu_chr6_009_02 + NC_000006.10:g.9568378_9568700del chr6 11664091 11664398 RIP_Alu_chr6_011_01 + NC_000006.10:g.11664092_11664398del chr6 12011437 12011734 RIP_Alu_chr6_012_02 + NC_000006.10:g.12011438_12011734del chr6 12207406 12207684 RIP_Alu_chr6_012_03 - NC_000006.10:g.12207407_12207684del chr6 12725320 12725635 RIP_Alu_chr6_012_04 + NC_000006.10:g.12725321_12725635del chr6 12772188 12772496 RIP_Alu_chr6_012_01 - NC_000006.10:g.12772189_12772496del chr6 13629243 13629245 RIP_Alu_chr6_013_01 + NC_000006.10:g.13629244_13629245ins chr6 13826455 13826457 RIP_Alu_chr6_013_02 - NC_000006.10:g.13826456_13826457ins chr6 17580261 17580561 RIP_Alu_chr6_017_01 + NC_000006.10:g.17580262_17580561del chr6 18655933 18655935 RIP_Alu_chr6_018_01 - NC_000006.10:g.18655934_18655935ins chr6 19245084 19245086 RIP_Alu_chr6_019_01 - NC_000006.10:g.19245085_19245086ins chr6 20873356 20873665 RIP_Alu_chr6_020_01 - NC_000006.10:g.20873357_20873665del chr6 20995892 20995894 RIP_Alu_chr6_020_02 - NC_000006.10:g.20995893_20995894ins chr6 22335462 22335733 RIP_Alu_chr6_022_01 + NC_000006.10:g.22335463_22335733del chr6 23408354 23408663 RIP_Alu_chr6_023_01 - NC_000006.10:g.23408355_23408663del chr6 23793980 23794293 RIP_Alu_chr6_023_02 + NC_000006.10:g.23793981_23794293del chr6 24086335 24086337 RIP_Alu_chr6_024_01 + NC_000006.10:g.24086336_24086337ins chr6 25637862 25637990 RIP_Alu_chr6_025_01 + NC_000006.10:g.25637863_25637990del chr6 26005977 26006279 RIP_Alu_chr6_026_01 + NC_000006.10:g.26005978_26006279del chr6 28298185 28298511 RIP_Alu_chr6_028_01 - NC_000006.10:g.28298186_28298511del chr6 29080199 29080294 RIP_Alu_chr6_029_03 - NC_000006.10:g.29080200_29080294del chr6 29788446 29788448 RIP_Alu_chr6_029_01 - NC_000006.10:g.29788447_29788448ins chr6 29926850 29926852 RIP_Alu_chr6_029_02 + NC_000006.10:g.29926851_29926852ins chr6 30106473 30106475 RIP_Alu_chr6_030_01 + NC_000006.10:g.30106474_30106475ins chr6 31079568 31079570 RIP_Alu_chr6_031_02 + NC_000006.10:g.31079569_31079570ins chr6 31574205 31574522 RIP_Alu_chr6_031_01 - NC_000006.10:g.31574206_31574522del chr6 32578045 32578047 RIP_Alu_chr6_032_03 - NC_000006.10:g.32578046_32578047ins chr6 32611925 32611998 RIP_Alu_chr6_032_01 + NC_000006.10:g.32611926_32611998del chr6 32765929 32765931 RIP_Alu_chr6_032_02 + NC_000006.10:g.32765930_32765931ins chr6 33201401 33201716 RIP_Alu_chr6_033_01 + NC_000006.10:g.33201402_33201716del chr6 37402949 37403254 RIP_Alu_chr6_037_01 + NC_000006.10:g.37402950_37403254del chr6 39030175 39030480 RIP_Alu_chr6_039_01 + NC_000006.10:g.39030176_39030480del chr6 41512053 41512361 RIP_Alu_chr6_041_01 - NC_000006.10:g.41512054_41512361del chr6 42061341 42061643 RIP_Alu_chr6_042_01 - NC_000006.10:g.42061342_42061643del chr6 44003464 44003466 RIP_Alu_chr6_044_02 - NC_000006.10:g.44003465_44003466ins chr6 44721475 44721778 RIP_Alu_chr6_044_01 + NC_000006.10:g.44721476_44721778del chr6 45368455 45368457 RIP_Alu_chr6_045_01 + NC_000006.10:g.45368456_45368457ins chr6 46075433 46075744 RIP_Alu_chr6_046_01 - NC_000006.10:g.46075434_46075744del chr6 47886198 47886200 RIP_Alu_chr6_047_01 + NC_000006.10:g.47886199_47886200ins chr6 50560436 50560754 RIP_Alu_chr6_050_01 - NC_000006.10:g.50560437_50560754del chr6 50873929 50874226 RIP_Alu_chr6_050_02 + NC_000006.10:g.50873930_50874226del chr6 51364258 51364561 RIP_Alu_chr6_051_02 + NC_000006.10:g.51364259_51364561del chr6 51625321 51625634 RIP_Alu_chr6_051_01 - NC_000006.10:g.51625322_51625634del chr6 51913996 51914311 RIP_Alu_chr6_051_03 - NC_000006.10:g.51913997_51914311del chr6 52037630 52037632 RIP_Alu_chr6_052_02 + NC_000006.10:g.52037631_52037632ins chr6 52912996 52912998 RIP_Alu_chr6_052_01 + NC_000006.10:g.52912997_52912998ins chr6 54664407 54664729 RIP_Alu_chr6_054_01 + NC_000006.10:g.54664408_54664729del chr6 54888280 54888593 RIP_Alu_chr6_054_03 + NC_000006.10:g.54888281_54888593del chr6 54972336 54972649 RIP_Alu_chr6_054_02 + NC_000006.10:g.54972337_54972649del chr6 55369992 55370300 RIP_Alu_chr6_055_01 + NC_000006.10:g.55369993_55370300del chr6 62111952 62112258 RIP_Alu_chr6_062_01 - NC_000006.10:g.62111953_62112258del chr6 65241882 65242187 RIP_Alu_chr6_065_01 + NC_000006.10:g.65241883_65242187del chr6 67291995 67292326 RIP_Alu_chr6_067_01 + NC_000006.10:g.67291996_67292326del chr6 68316920 68317226 RIP_Alu_chr6_068_01 - NC_000006.10:g.68316921_68317226del chr6 68370788 68370790 RIP_Alu_chr6_068_02 - NC_000006.10:g.68370789_68370790ins chr6 74320602 74320924 RIP_Alu_chr6_074_01 - NC_000006.10:g.74320603_74320924del chr6 74398468 74398470 RIP_Alu_chr6_074_03 + NC_000006.10:g.74398469_74398470ins chr6 74477982 74478280 RIP_Alu_chr6_074_02 - NC_000006.10:g.74477983_74478280del chr6 76014518 76014823 RIP_Alu_chr6_076_01 - NC_000006.10:g.76014519_76014823del chr6 77976838 77977132 RIP_Alu_chr6_077_01 + NC_000006.10:g.77976839_77977132del chr6 78420989 78420991 RIP_Alu_chr6_078_01 + NC_000006.10:g.78420990_78420991ins chr6 83331464 83331466 RIP_Alu_chr6_083_01 + NC_000006.10:g.83331465_83331466ins chr6 86083083 86083388 RIP_Alu_chr6_086_01 + NC_000006.10:g.86083084_86083388del chr6 88376975 88377289 RIP_Alu_chr6_088_01 - NC_000006.10:g.88376976_88377289del chr6 89480884 89481179 RIP_Alu_chr6_089_01 - NC_000006.10:g.89480885_89481179del chr6 91182585 91182587 RIP_Alu_chr6_091_02 - NC_000006.10:g.91182586_91182587ins chr6 91294310 91294617 RIP_Alu_chr6_091_01 - NC_000006.10:g.91294311_91294617del chr6 92864730 92865041 RIP_Alu_chr6_092_01 - NC_000006.10:g.92864731_92865041del chr6 93581273 93581473 RIP_Alu_chr6_093_01 + NC_000006.10:g.93581274_93581473del chr6 95630412 95630723 RIP_Alu_chr6_095_01 + NC_000006.10:g.95630413_95630723del chr6 97124401 97124403 RIP_Alu_chr6_097_01 - NC_000006.10:g.97124402_97124403ins chr6 98797933 98798250 RIP_Alu_chr6_098_01 + NC_000006.10:g.98797934_98798250del chr6 104848923 104849231 RIP_Alu_chr6_104_02 - NC_000006.10:g.104848924_104849231del chr6 104879356 104879358 RIP_Alu_chr6_104_01 + NC_000006.10:g.104879357_104879358ins chr6 105328657 105328957 RIP_Alu_chr6_105_01 - NC_000006.10:g.105328658_105328957del chr6 105674545 105674865 RIP_Alu_chr6_105_02 + NC_000006.10:g.105674546_105674865del chr6 107035537 107035841 RIP_Alu_chr6_107_01 - NC_000006.10:g.107035538_107035841del chr6 107090328 107090639 RIP_Alu_chr6_107_02 - NC_000006.10:g.107090329_107090639del chr6 107231224 107231527 RIP_Alu_chr6_107_03 + NC_000006.10:g.107231225_107231527del chr6 108372813 108373108 RIP_Alu_chr6_108_01 + NC_000006.10:g.108372814_108373108del chr6 112310559 112310861 RIP_Alu_chr6_112_01 + NC_000006.10:g.112310560_112310861del chr6 116857521 116857825 RIP_Alu_chr6_116_01 + NC_000006.10:g.116857522_116857825del chr6 119459217 119459530 RIP_Alu_chr6_119_02 + NC_000006.10:g.119459218_119459530del chr6 119638147 119638468 RIP_Alu_chr6_119_01 - NC_000006.10:g.119638148_119638468del chr6 120609960 120609962 RIP_Alu_chr6_120_02 - NC_000006.10:g.120609961_120609962ins chr6 120936158 120936160 RIP_Alu_chr6_120_01 + NC_000006.10:g.120936159_120936160ins chr6 121361004 121361315 RIP_Alu_chr6_121_01 - NC_000006.10:g.121361005_121361315del chr6 121496785 121496787 RIP_Alu_chr6_121_02 + NC_000006.10:g.121496786_121496787ins chr6 123805121 123805420 RIP_Alu_chr6_123_01 + NC_000006.10:g.123805122_123805420del chr6 124540620 124540928 RIP_Alu_chr6_124_01 - NC_000006.10:g.124540621_124540928del chr6 129031523 129031843 RIP_Alu_chr6_129_02 + NC_000006.10:g.129031524_129031843del chr6 129778781 129779077 RIP_Alu_chr6_129_01 - NC_000006.10:g.129778782_129779077del chr6 131217168 131217170 RIP_Alu_chr6_131_01 + NC_000006.10:g.131217169_131217170ins chr6 132739334 132739644 RIP_Alu_chr6_132_01 - NC_000006.10:g.132739335_132739644del chr6 133201812 133201814 RIP_Alu_chr6_133_02 - NC_000006.10:g.133201813_133201814ins chr6 133413193 133413524 RIP_Alu_chr6_133_01 - NC_000006.10:g.133413194_133413524del chr6 134859052 134859355 RIP_Alu_chr6_134_01 + NC_000006.10:g.134859053_134859355del chr6 135834560 135834878 RIP_Alu_chr6_135_01 + NC_000006.10:g.135834561_135834878del chr6 138989440 138989748 RIP_Alu_chr6_138_01 + NC_000006.10:g.138989441_138989748del chr6 139575160 139575162 RIP_Alu_chr6_139_01 - NC_000006.10:g.139575161_139575162ins chr6 140994595 140994871 RIP_Alu_chr6_140_01 + NC_000006.10:g.140994596_140994871del chr6 141367413 141367726 RIP_Alu_chr6_141_01 - NC_000006.10:g.141367414_141367726del chr6 153841787 153841955 RIP_Alu_chr6_153_01 + NC_000006.10:g.153791367_153791534del chr6 154539042 154539349 RIP_Alu_chr6_154_01 - NC_000006.10:g.154488622_154488928del chr6 157928264 157928558 RIP_Alu_chr6_157_01 - NC_000006.10:g.157877844_157878137del chr6 159622535 159622836 RIP_Alu_chr6_159_01 + NC_000006.10:g.159572115_159572415del chr6 159637186 159637495 RIP_Alu_chr6_159_02 - NC_000006.10:g.159586766_159587074del chr6 160952342 160952616 RIP_Alu_chr6_160_01 - NC_000006.10:g.160901922_160902195del chr6 163160789 163160791 RIP_Alu_chr6_163_04 + NC_000006.10:g.163110369_163110370ins chr6 163231224 163231238 RIP_Alu_chr6_163_02 - NC_000006.10:g.163180804_163180817del chr6 163234340 163234342 RIP_Alu_chr6_163_03 - NC_000006.10:g.163183920_163183921ins chr6 163784640 163784642 RIP_Alu_chr6_163_01 + NC_000006.10:g.163734220_163734221ins chr6 167877781 167878092 RIP_Alu_chr6_167_01 - NC_000006.10:g.167802075_167802385del chr6 169040781 169041089 RIP_Alu_chr6_169_01 + NC_000006.10:g.168965075_168965382del chr6 169862454 169862785 RIP_Alu_chr6_169_02 + NC_000006.10:g.169786748_169787078del chr6 170418399 170418401 RIP_Alu_chr6_170_02 - NC_000006.10:g.170342693_170342694ins chr6 170932476 170932777 RIP_Alu_chr6_170_01 + NC_000006.10:g.170856770_170857070del chr7 3588440 3588748 RIP_Alu_chr7_003_01 - NC_000007.12:g.3781726_3782033del chr7 4580995 4581303 RIP_Alu_chr7_004_01 - NC_000007.12:g.4774281_4774588del chr7 7315566 7315851 RIP_Alu_chr7_007_02 - NC_000007.12:g.7508852_7509136del chr7 7490528 7490844 RIP_Alu_chr7_007_01 - NC_000007.12:g.7683814_7684129del chr7 8523514 8523831 RIP_Alu_chr7_008_01 - NC_000007.12:g.8716800_8717116del chr7 11797483 11797739 RIP_Alu_chr7_011_01 + NC_000007.12:g.11990769_11991024del chr7 11831954 11832266 RIP_Alu_chr7_011_02 - NC_000007.12:g.12025240_12025551del chr7 16709539 16709866 RIP_Alu_chr7_016_01 + NC_000007.12:g.16902825_16903151del chr7 24451181 24451488 RIP_Alu_chr7_024_01 - NC_000007.12:g.24644467_24644773del chr7 24817852 24818170 RIP_Alu_chr7_024_02 + NC_000007.12:g.25011138_25011455del chr7 27287588 27287850 RIP_Alu_chr7_027_01 + NC_000007.12:g.27480874_27481135del chr7 27556627 27556963 RIP_Alu_chr7_027_02 - NC_000007.12:g.27749913_27750248del chr7 29046683 29046985 RIP_Alu_chr7_029_01 - NC_000007.12:g.29239969_29240270del chr7 30843829 30844146 RIP_Alu_chr7_030_01 + NC_000007.12:g.31037115_31037431del chr7 31532773 31533051 RIP_Alu_chr7_031_01 + NC_000007.12:g.31726059_31726336del chr7 33176785 33177099 RIP_Alu_chr7_033_02 - NC_000007.12:g.33370071_33370384del chr7 33672095 33672412 RIP_Alu_chr7_033_01 - NC_000007.12:g.33865381_33865697del chr7 34622308 34622656 RIP_Alu_chr7_034_01 - NC_000007.12:g.34815594_34815941del chr7 37250529 37250844 RIP_Alu_chr7_037_03 + NC_000007.12:g.37443815_37444129del chr7 37609889 37609891 RIP_Alu_chr7_037_01 + NC_000007.12:g.37803175_37803176ins chr7 37771755 37772062 RIP_Alu_chr7_037_02 - NC_000007.12:g.37965041_37965347del chr7 38054880 38055191 RIP_Alu_chr7_038_02 - NC_000007.12:g.38248166_38248476del chr7 38281711 38282027 RIP_Alu_chr7_038_01 + NC_000007.12:g.38474997_38475312del chr7 39365309 39365611 RIP_Alu_chr7_039_02 - NC_000007.12:g.39558595_39558896del chr7 39643285 39643584 RIP_Alu_chr7_039_01 - NC_000007.12:g.39836571_39836869del chr7 42200190 42200477 RIP_Alu_chr7_042_03 + NC_000007.12:g.42393476_42393762del chr7 42322953 42323262 RIP_Alu_chr7_042_04 + NC_000007.12:g.42516239_42516547del chr7 42377876 42378205 RIP_Alu_chr7_042_02 - NC_000007.12:g.42571162_42571490del chr7 42420899 42420901 RIP_Alu_chr7_042_01 - NC_000007.12:g.42614185_42614186ins chr7 43187359 43187653 RIP_Alu_chr7_043_01 + NC_000007.12:g.43380645_43380938del chr7 44735647 44735958 RIP_Alu_chr7_044_01 - NC_000007.12:g.44928933_44929243del chr7 45549066 45549371 RIP_Alu_chr7_045_01 - NC_000007.12:g.45742352_45742656del chr7 45875417 45875419 RIP_Alu_chr7_045_02 - NC_000007.12:g.46068703_46068704ins chr7 47605898 47605900 RIP_Alu_chr7_047_01 + NC_000007.12:g.47799184_47799185ins chr7 47668430 47668737 RIP_Alu_chr7_047_02 + NC_000007.12:g.47861716_47862022del chr7 49329335 49329644 RIP_Alu_chr7_049_01 - NC_000007.12:g.49522621_49522929del chr7 51466117 51466427 RIP_Alu_chr7_051_01 + NC_000007.12:g.51659403_51659712del chr7 51869181 51869484 RIP_Alu_chr7_051_02 + NC_000007.12:g.52062467_52062769del chr7 52577073 52577365 RIP_Alu_chr7_052_01 - NC_000007.12:g.52770359_52770650del chr7 57175562 57175874 RIP_Alu_chr7_057_01 + NC_000007.12:g.57368848_57369159del chr7 57597105 57597406 RIP_Alu_chr7_057_02 - NC_000007.12:g.57790391_57790691del chr7 64080971 64081269 RIP_Alu_chr7_064_02 - NC_000007.12:g.64274257_64274554del chr7 64097277 64097581 RIP_Alu_chr7_064_01 + NC_000007.12:g.64290563_64290866del chr7 67906733 67907040 RIP_Alu_chr7_067_01 + NC_000007.12:g.68100019_68100325del chr7 70011727 70012039 RIP_Alu_chr7_070_01 + NC_000007.12:g.70205013_70205324del chr7 71528994 71529300 RIP_Alu_chr7_071_01 + NC_000007.12:g.71722280_71722585del chr7 76120865 76121184 RIP_Alu_chr7_076_02 - NC_000007.12:g.76314151_76314469del chr7 76211874 76211876 RIP_Alu_chr7_076_01 + NC_000007.12:g.76405160_76405161ins chr7 77604302 77604611 RIP_Alu_chr7_077_01 + NC_000007.12:g.77797588_77797896del chr7 78002511 78002831 RIP_Alu_chr7_078_01 - NC_000007.12:g.78195797_78196116del chr7 79386740 79387059 RIP_Alu_chr7_079_01 - NC_000007.12:g.79580026_79580344del chr7 80446349 80446676 RIP_Alu_chr7_080_02 + NC_000007.12:g.80639635_80639961del chr7 80647504 80647801 RIP_Alu_chr7_080_01 + NC_000007.12:g.80840790_80841086del chr7 82591127 82591431 RIP_Alu_chr7_082_02 + NC_000007.12:g.82784413_82784716del chr7 82591485 82591794 RIP_Alu_chr7_082_01 - NC_000007.12:g.82784771_82785079del chr7 83354528 83354838 RIP_Alu_chr7_083_01 - NC_000007.12:g.83547814_83548123del chr7 83373023 83373338 RIP_Alu_chr7_083_02 - NC_000007.12:g.83566309_83566623del chr7 83395607 83395905 RIP_Alu_chr7_083_03 - NC_000007.12:g.83588893_83589190del chr7 86361953 86362256 RIP_Alu_chr7_086_01 + NC_000007.12:g.86555239_86555541del chr7 86481279 86481574 RIP_Alu_chr7_086_02 + NC_000007.12:g.86674565_86674859del chr7 89243534 89243839 RIP_Alu_chr7_089_01 - NC_000007.12:g.89436820_89437124del chr7 90228595 90228890 RIP_Alu_chr7_090_01 - NC_000007.12:g.90421881_90422175del chr7 93602993 93603295 RIP_Alu_chr7_093_01 + NC_000007.12:g.93796279_93796580del chr7 95030918 95031235 RIP_Alu_chr7_095_01 - NC_000007.12:g.95224204_95224520del chr7 95712171 95712478 RIP_Alu_chr7_095_02 + NC_000007.12:g.95905457_95905763del chr7 96167406 96167722 RIP_Alu_chr7_096_02 - NC_000007.12:g.96360692_96361007del chr7 96539397 96539624 RIP_Alu_chr7_096_01 + NC_000007.12:g.96732683_96732909del chr7 97842447 97842449 RIP_Alu_chr7_097_01 - NC_000007.12:g.98035733_98035734ins chr7 102082670 102082994 RIP_Alu_chr7_102_01 + NC_000007.12:g.102275956_102276279del chr7 103057029 103057339 RIP_Alu_chr7_103_02 + NC_000007.12:g.103250315_103250624del chr7 103316815 103317122 RIP_Alu_chr7_103_05 - NC_000007.12:g.103510101_103510407del chr7 103450399 103450703 RIP_Alu_chr7_103_01 - NC_000007.12:g.103643685_103643988del chr7 103723478 103723747 RIP_Alu_chr7_103_03 - NC_000007.12:g.103916764_103917032del chr7 103781351 103781666 RIP_Alu_chr7_103_04 + NC_000007.12:g.103974637_103974951del chr7 104209164 104209485 RIP_Alu_chr7_104_01 + NC_000007.12:g.104402450_104402770del chr7 105060011 105060013 RIP_Alu_chr7_105_01 + NC_000007.12:g.105253297_105253298ins chr7 107277943 107278077 RIP_Alu_chr7_107_03 - NC_000007.12:g.107471229_107471362del chr7 107360955 107361263 RIP_Alu_chr7_107_01 - NC_000007.12:g.107554241_107554548del chr7 110136648 110136960 RIP_Alu_chr7_110_01 + NC_000007.12:g.110329934_110330245del chr7 112852421 112852741 RIP_Alu_chr7_112_01 + NC_000007.12:g.113045707_113046026del chr7 113547468 113547764 RIP_Alu_chr7_113_01 + NC_000007.12:g.113740754_113741049del chr7 116435967 116436266 RIP_Alu_chr7_116_01 - NC_000007.12:g.116629253_116629551del chr7 117937765 117938106 RIP_Alu_chr7_117_01 - NC_000007.12:g.118131051_118131391del chr7 120475065 120475385 RIP_Alu_chr7_120_01 + NC_000007.12:g.120668351_120668670del chr7 124186975 124186977 RIP_Alu_chr7_124_01 + NC_000007.12:g.124380261_124380262ins chr7 124859060 124859377 RIP_Alu_chr7_124_02 - NC_000007.12:g.125052346_125052662del chr7 127214115 127214423 RIP_Alu_chr7_127_01 - NC_000007.12:g.127407401_127407708del chr7 127360378 127360679 RIP_Alu_chr7_127_03 - NC_000007.12:g.127553664_127553964del chr7 127903176 127903480 RIP_Alu_chr7_127_02 - NC_000007.12:g.128096462_128096765del chr7 128751127 128751129 RIP_Alu_chr7_128_01 + NC_000007.12:g.128944413_128944414ins chr7 131122759 131122761 RIP_Alu_chr7_131_01 - NC_000007.12:g.131316045_131316046ins chr7 132564944 132565259 RIP_Alu_chr7_132_01 + NC_000007.12:g.132758230_132758544del chr7 134646469 134646788 RIP_Alu_chr7_134_01 - NC_000007.12:g.134839755_134840073del chr7 136291720 136292006 RIP_Alu_chr7_136_03 - NC_000007.12:g.136485006_136485291del chr7 136308879 136309179 RIP_Alu_chr7_136_01 + NC_000007.12:g.136502165_136502464del chr7 136912538 136912833 RIP_Alu_chr7_136_02 - NC_000007.12:g.137105824_137106118del chr7 139386596 139386598 RIP_Alu_chr7_139_01 - NC_000007.12:g.139579882_139579883ins chr7 140567063 140567367 RIP_Alu_chr7_140_02 - NC_000007.12:g.140760349_140760652del chr7 140649408 140649673 RIP_Alu_chr7_140_01 + NC_000007.12:g.140842694_140842958del chr7 142377469 142377471 RIP_Alu_chr7_142_01 - NC_000007.12:g.142570755_142570756ins chr7 143336249 143336571 RIP_Alu_chr7_143_01 - NC_000007.12:g.143529535_143529856del chr7 151857060 151857363 RIP_Alu_chr7_151_01 - NC_000007.12:g.152050346_152050648del chr7 153819927 153819929 RIP_Alu_chr7_153_01 - NC_000007.12:g.154013213_154013214ins chr7 154295866 154295868 RIP_Alu_chr7_154_02 - NC_000007.12:g.154489152_154489153ins chr7 154379579 154379892 RIP_Alu_chr7_154_01 + NC_000007.12:g.154572865_154573177del chr8 2024421 2024461 RIP_Alu_chr8_002_01 - NC_000008.9:g.2024422_2024461del chr8 4209471 4209800 RIP_Alu_chr8_004_01 + NC_000008.9:g.4209472_4209800del chr8 5735594 5735913 RIP_Alu_chr8_005_01 + NC_000008.9:g.5735595_5735913del chr8 6032384 6032386 RIP_Alu_chr8_006_01 + NC_000008.9:g.6032385_6032386ins chr8 11971714 11972025 RIP_Alu_chr8_011_01 + NC_000008.9:g.11971715_11972025del chr8 12573086 12573401 RIP_Alu_chr8_012_01 - NC_000008.9:g.12573087_12573401del chr8 15045649 15045957 RIP_Alu_chr8_015_01 - NC_000008.9:g.15045650_15045957del chr8 15097775 15098076 RIP_Alu_chr8_015_03 - NC_000008.9:g.15097776_15098076del chr8 15431673 15431964 RIP_Alu_chr8_015_02 - NC_000008.9:g.15431674_15431964del chr8 16147192 16147194 RIP_Alu_chr8_016_01 - NC_000008.9:g.16147193_16147194ins chr8 17006592 17006899 RIP_Alu_chr8_017_01 + NC_000008.9:g.17006593_17006899del chr8 17309985 17310296 RIP_Alu_chr8_017_02 + NC_000008.9:g.17309986_17310296del chr8 20024556 20024857 RIP_Alu_chr8_020_01 - NC_000008.9:g.20024557_20024857del chr8 25228576 25228578 RIP_Alu_chr8_025_01 - NC_000008.9:g.25228577_25228578ins chr8 30511831 30512123 RIP_Alu_chr8_030_01 + NC_000008.9:g.30511832_30512123del chr8 31690796 31691136 RIP_Alu_chr8_031_01 - NC_000008.9:g.31690797_31691136del chr8 39884486 39884803 RIP_Alu_chr8_039_01 + NC_000008.9:g.39884487_39884803del chr8 41398500 41398808 RIP_Alu_chr8_041_01 + NC_000008.9:g.41398501_41398808del chr8 42159062 42159064 RIP_Alu_chr8_042_01 + NC_000008.9:g.42159063_42159064ins chr8 42705065 42705395 RIP_Alu_chr8_042_02 + NC_000008.9:g.42705066_42705395del chr8 47500482 47500805 RIP_Alu_chr8_047_01 - NC_000008.9:g.47500483_47500805del chr8 49081980 49082285 RIP_Alu_chr8_049_01 - NC_000008.9:g.49081981_49082285del chr8 52530067 52530244 RIP_Alu_chr8_052_01 + NC_000008.9:g.52530068_52530244del chr8 54367448 54367751 RIP_Alu_chr8_054_01 + NC_000008.9:g.54367449_54367751del chr8 56563770 56564072 RIP_Alu_chr8_056_01 + NC_000008.9:g.56563771_56564072del chr8 57129884 57130023 RIP_Alu_chr8_057_01 - NC_000008.9:g.57129885_57130023del chr8 57176935 57177233 RIP_Alu_chr8_057_02 - NC_000008.9:g.57176936_57177233del chr8 61367550 61367857 RIP_Alu_chr8_061_01 - NC_000008.9:g.61367551_61367857del chr8 61689349 61689351 RIP_Alu_chr8_061_02 + NC_000008.9:g.61689350_61689351ins chr8 63092703 63093009 RIP_Alu_chr8_063_01 - NC_000008.9:g.63092704_63093009del chr8 64307427 64307669 RIP_Alu_chr8_064_01 - NC_000008.9:g.64307428_64307669del chr8 69580237 69580543 RIP_Alu_chr8_069_01 + NC_000008.9:g.69580238_69580543del chr8 72077132 72077134 RIP_Alu_chr8_072_02 + NC_000008.9:g.72077133_72077134ins chr8 72319393 72319395 RIP_Alu_chr8_072_01 + NC_000008.9:g.72319394_72319395ins chr8 72713971 72714293 RIP_Alu_chr8_072_03 + NC_000008.9:g.72713972_72714293del chr8 75537900 75537902 RIP_Alu_chr8_075_01 + NC_000008.9:g.75537901_75537902ins chr8 76037862 76038186 RIP_Alu_chr8_076_02 + NC_000008.9:g.76037863_76038186del chr8 76039502 76039819 RIP_Alu_chr8_076_03 - NC_000008.9:g.76039503_76039819del chr8 76289456 76289767 RIP_Alu_chr8_076_01 - NC_000008.9:g.76289457_76289767del chr8 83167365 83167672 RIP_Alu_chr8_083_01 + NC_000008.9:g.83167366_83167672del chr8 87965212 87965529 RIP_Alu_chr8_087_01 + NC_000008.9:g.87965213_87965529del chr8 89461333 89461631 RIP_Alu_chr8_089_01 - NC_000008.9:g.89461334_89461631del chr8 91584605 91584859 RIP_Alu_chr8_091_01 + NC_000008.9:g.91584606_91584859del chr8 92222044 92222356 RIP_Alu_chr8_092_01 - NC_000008.9:g.92222045_92222356del chr8 95863896 95863898 RIP_Alu_chr8_095_01 + NC_000008.9:g.95863897_95863898ins chr8 97167263 97167601 RIP_Alu_chr8_097_02 + NC_000008.9:g.97167264_97167601del chr8 97657822 97658122 RIP_Alu_chr8_097_01 - NC_000008.9:g.97657823_97658122del chr8 98664581 98664907 RIP_Alu_chr8_098_02 - NC_000008.9:g.98664582_98664907del chr8 98852636 98852956 RIP_Alu_chr8_098_01 + NC_000008.9:g.98852637_98852956del chr8 99426010 99426321 RIP_Alu_chr8_099_01 + NC_000008.9:g.99426011_99426321del chr8 104452088 104452395 RIP_Alu_chr8_104_01 + NC_000008.9:g.104452089_104452395del chr8 106250585 106250899 RIP_Alu_chr8_106_01 + NC_000008.9:g.106250586_106250899del chr8 106733691 106733693 RIP_Alu_chr8_106_02 - NC_000008.9:g.106733692_106733693ins chr8 106739709 106740014 RIP_Alu_chr8_106_03 + NC_000008.9:g.106739710_106740014del chr8 107580283 107580594 RIP_Alu_chr8_107_01 + NC_000008.9:g.107580284_107580594del chr8 108189409 108189713 RIP_Alu_chr8_108_01 + NC_000008.9:g.108189410_108189713del chr8 109799350 109799662 RIP_Alu_chr8_109_01 - NC_000008.9:g.109799351_109799662del chr8 110579495 110579805 RIP_Alu_chr8_110_01 - NC_000008.9:g.110579496_110579805del chr8 112237413 112237754 RIP_Alu_chr8_112_01 - NC_000008.9:g.112237414_112237754del chr8 113154611 113154929 RIP_Alu_chr8_113_01 + NC_000008.9:g.113154612_113154929del chr8 116557408 116557721 RIP_Alu_chr8_116_01 - NC_000008.9:g.116557409_116557721del chr8 118292722 118292990 RIP_Alu_chr8_118_01 - NC_000008.9:g.118292723_118292990del chr8 118781983 118782300 RIP_Alu_chr8_118_02 - NC_000008.9:g.118781984_118782300del chr8 121750865 121751172 RIP_Alu_chr8_121_02 - NC_000008.9:g.121750866_121751172del chr8 121923939 121924242 RIP_Alu_chr8_121_01 - NC_000008.9:g.121923940_121924242del chr8 123304440 123304442 RIP_Alu_chr8_123_01 - NC_000008.9:g.123304441_123304442ins chr8 124749363 124749365 RIP_Alu_chr8_124_01 + NC_000008.9:g.124749364_124749365ins chr8 125959150 125959152 RIP_Alu_chr8_125_01 - NC_000008.9:g.125959151_125959152ins chr8 126093292 126093294 RIP_Alu_chr8_126_01 - NC_000008.9:g.126093293_126093294ins chr8 126405997 126406297 RIP_Alu_chr8_126_02 - NC_000008.9:g.126405998_126406297del chr8 130976862 130976864 RIP_Alu_chr8_130_01 + NC_000008.9:g.130976863_130976864ins chr8 132237482 132237779 RIP_Alu_chr8_132_02 - NC_000008.9:g.132237483_132237779del chr8 132462524 132462526 RIP_Alu_chr8_132_01 + NC_000008.9:g.132462525_132462526ins chr8 134398641 134398948 RIP_Alu_chr8_134_01 - NC_000008.9:g.134398642_134398948del chr8 137786010 137786322 RIP_Alu_chr8_137_01 + NC_000008.9:g.137786011_137786322del chr8 138929742 138930055 RIP_Alu_chr8_138_02 + NC_000008.9:g.138929743_138930055del chr8 138978351 138978557 RIP_Alu_chr8_138_01 - NC_000008.9:g.138978352_138978557del chr8 139395160 139395162 RIP_Alu_chr8_139_01 + NC_000008.9:g.139395161_139395162ins chr8 140544450 140544772 RIP_Alu_chr8_140_01 + NC_000008.9:g.140544451_140544772del chr8 140662514 140662516 RIP_Alu_chr8_140_02 - NC_000008.9:g.140662515_140662516ins chr8 144794756 144795077 RIP_Alu_chr8_144_01 - NC_000008.9:g.144794757_144795077del chr9 190130 190443 RIP_Alu_chr9_000_01 + NC_000009.10:g.190131_190443del chr9 2341302 2341304 RIP_Alu_chr9_002_01 + NC_000009.10:g.2341303_2341304ins chr9 3068464 3068775 RIP_Alu_chr9_003_01 + NC_000009.10:g.3068465_3068775del chr9 3770631 3770942 RIP_Alu_chr9_003_02 + NC_000009.10:g.3770632_3770942del chr9 4336670 4336969 RIP_Alu_chr9_004_01 + NC_000009.10:g.4336671_4336969del chr9 6742049 6742356 RIP_Alu_chr9_006_01 + NC_000009.10:g.6742050_6742356del chr9 10488750 10489050 RIP_Alu_chr9_010_02 + NC_000009.10:g.10488751_10489050del chr9 10818105 10818426 RIP_Alu_chr9_010_01 - NC_000009.10:g.10818106_10818426del chr9 13645421 13645745 RIP_Alu_chr9_013_02 + NC_000009.10:g.13645422_13645745del chr9 13830786 13831082 RIP_Alu_chr9_013_01 + NC_000009.10:g.13830787_13831082del chr9 16379406 16379730 RIP_Alu_chr9_016_02 + NC_000009.10:g.16379407_16379730del chr9 16453293 16453593 RIP_Alu_chr9_016_01 - NC_000009.10:g.16453294_16453593del chr9 18498899 18499229 RIP_Alu_chr9_018_02 + NC_000009.10:g.18498900_18499229del chr9 18741838 18742116 RIP_Alu_chr9_018_01 + NC_000009.10:g.18741839_18742116del chr9 21908068 21908371 RIP_Alu_chr9_021_01 + NC_000009.10:g.21908069_21908371del chr9 22989502 22989819 RIP_Alu_chr9_022_01 + NC_000009.10:g.22989503_22989819del chr9 25967739 25968048 RIP_Alu_chr9_025_01 - NC_000009.10:g.25967740_25968048del chr9 26502937 26503242 RIP_Alu_chr9_026_01 - NC_000009.10:g.26502938_26503242del chr9 28574934 28575011 RIP_Alu_chr9_028_01 - NC_000009.10:g.28574935_28575011del chr9 29614705 29615012 RIP_Alu_chr9_029_01 - NC_000009.10:g.29614706_29615012del chr9 30481297 30481595 RIP_Alu_chr9_030_01 - NC_000009.10:g.30481298_30481595del chr9 32305160 32305380 RIP_Alu_chr9_032_01 + NC_000009.10:g.32305161_32305380del chr9 35793107 35793399 RIP_Alu_chr9_035_01 - NC_000009.10:g.35793108_35793399del chr9 42013657 42013961 RIP_Alu_chr9_040_01 - NC_000009.10:g.41028343_41028654del chr9 41590314 41590620 RIP_Alu_chr9_041_02 - NC_000009.10:g.41663268_41663573del chr9 41760214 41760216 RIP_Alu_chr9_041_01 + NC_000009.10:g.41833168_41833169ins chr9 68932714 68933020 RIP_Alu_chr9_068_01 - NC_000009.10:g.70892981_70893286del chr9 69007494 69007798 RIP_Alu_chr9_069_01 - NC_000009.10:g.70967761_70968064del chr9 70693164 70693467 RIP_Alu_chr9_070_01 + NC_000009.10:g.72653431_72653733del chr9 71498947 71499220 RIP_Alu_chr9_071_01 + NC_000009.10:g.73459214_73459486del chr9 72899083 72899350 RIP_Alu_chr9_072_01 + NC_000009.10:g.74859350_74859616del chr9 74753565 74753914 RIP_Alu_chr9_074_01 + NC_000009.10:g.76713832_76714180del chr9 75966288 75966592 RIP_Alu_chr9_075_01 - NC_000009.10:g.77926555_77926858del chr9 76354072 76354382 RIP_Alu_chr9_076_01 - NC_000009.10:g.78314339_78314648del chr9 79342996 79342998 RIP_Alu_chr9_079_01 - NC_000009.10:g.81303263_81303264ins chr9 82263412 82263741 RIP_Alu_chr9_082_01 + NC_000009.10:g.84223679_84224007del chr9 87175579 87175581 RIP_Alu_chr9_087_01 + NC_000009.10:g.89135846_89135847ins chr9 93450939 93450941 RIP_Alu_chr9_093_02 - NC_000009.10:g.95411206_95411207ins chr9 93809912 93810152 RIP_Alu_chr9_093_01 - NC_000009.10:g.95770179_95770418del chr9 94372477 94372788 RIP_Alu_chr9_094_01 - NC_000009.10:g.96332744_96333054del chr9 94393811 94393813 RIP_Alu_chr9_094_02 + NC_000009.10:g.96354078_96354079ins chr9 95345568 95345899 RIP_Alu_chr9_095_01 + NC_000009.10:g.97305835_97306165del chr9 97840629 97840943 RIP_Alu_chr9_097_01 - NC_000009.10:g.99800896_99801209del chr9 98288900 98289199 RIP_Alu_chr9_098_01 - NC_000009.10:g.100249167_100249465del chr9 100782453 100782455 RIP_Alu_chr9_100_01 - NC_000009.10:g.102742720_102742721ins chr9 101289550 101289552 RIP_Alu_chr9_101_01 + NC_000009.10:g.103249817_103249818ins chr9 104480542 104480843 RIP_Alu_chr9_104_01 + NC_000009.10:g.106440809_106441109del chr9 109509766 109510070 RIP_Alu_chr9_109_01 - NC_000009.10:g.111470033_111470336del chr9 113016650 113016933 RIP_Alu_chr9_113_01 + NC_000009.10:g.114976918_114977200del chr9 115189209 115189541 RIP_Alu_chr9_115_01 - NC_000009.10:g.117149477_117149808del chr9 116556630 116556951 RIP_Alu_chr9_116_01 + NC_000009.10:g.118516898_118517218del chr9 119436644 119436821 RIP_Alu_chr9_119_02 - NC_000009.10:g.121396912_121397088del chr9 119611398 119611706 RIP_Alu_chr9_119_01 + NC_000009.10:g.121571666_121571973del chrX 2490296 2490298 RIP_Alu_chrX_002_03 - NC_000023.9:g.2506936_2506937ins chrX 2725351 2725353 RIP_Alu_chrX_002_01 - NC_000023.9:g.2741991_2741992ins chrX 2980297 2980310 RIP_Alu_chrX_002_02 + NC_000023.9:g.2996937_2996949del chrX 4764458 4764758 RIP_Alu_chrX_004_01 - NC_000023.9:g.4914723_4915022del chrX 5430085 5430416 RIP_Alu_chrX_005_01 + NC_000023.9:g.5580350_5580680del chrX 10856065 10856388 RIP_Alu_chrX_010_01 + NC_000023.9:g.11006330_11006652del chrX 22615220 22615494 RIP_Alu_chrX_022_01 - NC_000023.9:g.22765485_22765758del chrX 24052371 24052689 RIP_Alu_chrX_024_01 + NC_000023.9:g.24202636_24202953del chrX 30468853 30468855 RIP_Alu_chrX_030_01 - NC_000023.9:g.30619118_30619119ins chrX 31337134 31337437 RIP_Alu_chrX_031_01 + NC_000023.9:g.31487399_31487701del chrX 32968249 32968560 RIP_Alu_chrX_032_01 - NC_000023.9:g.33118514_33118824del chrX 33062507 33062509 RIP_Alu_chrX_033_01 + NC_000023.9:g.33212772_33212773ins chrX 40261437 40261752 RIP_Alu_chrX_040_01 - NC_000023.9:g.40390128_40390442del chrX 44061176 44061490 RIP_Alu_chrX_044_02 - NC_000023.9:g.44189867_44190180del chrX 44061176 44061490 RIP_Alu_chrX_044_01 - NC_000023.9:g.44189867_44190180del chrX 45343800 45343802 RIP_Alu_chrX_045_01 - NC_000023.9:g.45472491_45472492ins chrX 47806601 47806892 RIP_Alu_chrX_047_01 - NC_000023.9:g.47935292_47935582del chrX 49558376 49558378 RIP_Alu_chrX_049_01 + NC_000023.9:g.49742081_49742082ins chrX 55563255 55563569 RIP_Alu_chrX_055_01 - NC_000023.9:g.55696960_55697273del chrX 65310082 65310376 RIP_Alu_chrX_065_01 - NC_000023.9:g.65443787_65444080del chrX 70906251 70906558 RIP_Alu_chrX_070_01 - NC_000023.9:g.71039956_71040262del chrX 75873285 75873576 RIP_Alu_chrX_075_01 + NC_000023.9:g.76006990_76007280del chrX 78878360 78878655 RIP_Alu_chrX_078_01 - NC_000023.9:g.78958872_78959166del chrX 85347266 85347556 RIP_Alu_chrX_085_01 - NC_000023.9:g.85427778_85428067del chrX 88286875 88287176 RIP_Alu_chrX_088_01 - NC_000023.9:g.88367387_88367687del chrX 89226658 89226660 RIP_Alu_chrX_089_01 - NC_000023.9:g.89307170_89307171ins chrX 89371279 89371281 RIP_Alu_chrX_089_02 + NC_000023.9:g.89451791_89451792ins chrX 90089377 90089379 RIP_Alu_chrX_090_03 - NC_000023.9:g.90169889_90169890ins chrX 90729596 90729896 RIP_Alu_chrX_090_01 + NC_000023.9:g.90810108_90810407del chrX 90947467 90947469 RIP_Alu_chrX_090_02 + NC_000023.9:g.91027979_91027980ins chrX 91536026 91536335 RIP_Alu_chrX_091_01 + NC_000023.9:g.91616538_91616846del chrX 91946749 91947046 RIP_Alu_chrX_091_02 + NC_000023.9:g.92027261_92027557del chrX 93371130 93371439 RIP_Alu_chrX_093_01 - NC_000023.9:g.93451642_93451950del chrX 96000817 96001107 RIP_Alu_chrX_096_01 - NC_000023.9:g.96081329_96081618del chrX 104997316 104997604 RIP_Alu_chrX_104_01 + NC_000023.9:g.105077828_105078115del chrX 106467617 106467619 RIP_Alu_chrX_106_01 + NC_000023.9:g.106548129_106548130ins chrX 106550732 106550908 RIP_Alu_chrX_106_02 - NC_000023.9:g.106631244_106631419del chrX 114493484 114493767 RIP_Alu_chrX_114_01 + NC_000023.9:g.114576761_114577043del chrX 116236242 116236546 RIP_Alu_chrX_116_01 + NC_000023.9:g.116338389_116338692del chrX 119425206 119425506 RIP_Alu_chrX_119_01 + NC_000023.9:g.119527353_119527652del chrX 119816158 119816457 RIP_Alu_chrX_119_02 - NC_000023.9:g.119918305_119918603del chrX 127470624 127470931 RIP_Alu_chrX_127_01 - NC_000023.9:g.127572771_127573077del chrX 129265344 129265663 RIP_Alu_chrX_129_01 - NC_000023.9:g.129367491_129367809del chrX 134883516 134883833 RIP_Alu_chrX_134_01 + NC_000023.9:g.134985663_134985979del chrX 138110429 138110740 RIP_Alu_chrX_138_02 + NC_000023.9:g.138212576_138212886del chrX 138356072 138356074 RIP_Alu_chrX_138_05 + NC_000023.9:g.138458219_138458220ins chrX 138356072 138356074 RIP_Alu_chrX_138_04 + NC_000023.9:g.138458219_138458220ins chrX 138369637 138369639 RIP_Alu_chrX_138_03 + NC_000023.9:g.138471784_138471785ins chrX 138667497 138667805 RIP_Alu_chrX_138_01 + NC_000023.9:g.138769644_138769951del chrX 139942855 139943175 RIP_Alu_chrX_139_01 + NC_000023.9:g.140045002_140045321del chrX 143548838 143549132 RIP_Alu_chrX_143_01 + NC_000023.9:g.143650985_143651278del chrX 144141547 144141859 RIP_Alu_chrX_144_01 + NC_000023.9:g.144243694_144244005del chrX 148782404 148782702 RIP_Alu_chrX_148_01 - NC_000023.9:g.148862495_148862792del chrX 149221715 149222040 RIP_Alu_chrX_149_01 - NC_000023.9:g.149301806_149302130del chrX 151558221 151558543 RIP_Alu_chrX_151_01 - NC_000023.9:g.151638310_151638631del chrX 152525510 152525512 RIP_Alu_chrX_152_01 + NC_000023.9:g.152657858_152657859ins chrX 153694163 153694165 RIP_Alu_chrX_153_01 + NC_000023.9:g.153783654_153783655ins chrX 153722041 153722043 RIP_Alu_chrX_153_02 + NC_000023.9:g.153811532_153811533ins chrY 3437692 3438000 RIP_Alu_chrY_003_01 - NC_000024.8:g.3454332_3454639del chrY 4590179 4590181 RIP_Alu_chrY_004_01 - NC_000024.8:g.4606819_4606820ins chrY 5987355 5987671 RIP_Alu_chrY_005_01 + NC_000024.8:g.6003995_6004310del chrY 7313632 7313951 RIP_Alu_chrY_007_01 - NC_000024.8:g.7330272_7330590del chrY 9056334 9056634 RIP_Alu_chrY_009_01 + NC_000024.8:g.9072974_9073273del chrY 13579022 13579330 RIP_Alu_chrY_013_01 - NC_000024.8:g.13650286_13650593del chrY 14121470 14121776 RIP_Alu_chrY_014_02 + NC_000024.8:g.14192734_14193039del chrY 14253230 14253520 RIP_Alu_chrY_014_03 + NC_000024.8:g.14324494_14324783del chrY 14319916 14320228 RIP_Alu_chrY_014_01 + NC_000024.8:g.14391180_14391491del chrY 15512772 15513073 RIP_Alu_chrY_015_01 - NC_000024.8:g.15584036_15584336del chrY 16281221 16281520 RIP_Alu_chrY_016_01 - NC_000024.8:g.16352485_16352783del chrY 25321933 25322274 RIP_Alu_chrY_025_01 - NC_000024.8:g.25393197_25393537del chr1 30709774 30710730 RIP_L1_chr1_030_01 + NC_000001.9:g.30813269_30814224del chr1 56543144 56546982 RIP_L1_chr1_056_01 + NC_000001.9:g.56603712_56607549del chr1 65621658 65621913 RIP_L1_chr1_065_01 - NC_000001.9:g.65682226_65682480del chr1 70960613 70960615 RIP_L1_chr1_070_01 + NC_000001.9:g.71021181_71021182ins chr1 74696549 74697274 RIP_L1_chr1_074_01 - NC_000001.9:g.74757117_74757841del chr1 82837996 82839590 RIP_L1_chr1_082_01 + NC_000001.9:g.82898564_82900157del chr1 86453006 86453718 RIP_L1_chr1_086_01 + NC_000001.9:g.86513574_86514285del chr1 91626126 91626571 RIP_L1_chr1_091_01 + NC_000001.9:g.91686694_91687138del chr1 101691009 101691011 RIP_L1_chr1_101_01 - NC_000001.9:g.101751577_101751578ins chr1 113751883 113757919 RIP_L1_chr1_113_01 + NC_000001.9:g.113841365_113847400del chr1 142155650 142155808 RIP_L1_chr1_142_01 - NC_000001.9:g.143289653_143289810del chr1 146088011 146088013 RIP_L1_chr1_146_01 + NC_000001.9:g.147575044_147575045ins chr1 171290920 171297173 RIP_L1_chr1_171_01 - NC_000001.9:g.172825887_172832139del chr1 177567589 177573649 RIP_L1_chr1_177_01 - NC_000001.9:g.179102556_179108615del chr1 181546399 181552441 RIP_L1_chr1_181_01 + NC_000001.9:g.183081366_183087407del chr1 184298460 184304550 RIP_L1_chr1_184_01 + NC_000001.9:g.185833427_185839516del chr1 185816599 185816896 RIP_L1_chr1_185_01 - NC_000001.9:g.187351566_187351862del chr1 190281296 190281298 RIP_L1_chr1_190_01 + NC_000001.9:g.191816263_191816264ins chr1 194232176 194234928 RIP_L1_chr1_194_01 - NC_000001.9:g.195767143_195769894del chr1 196170399 196171890 RIP_L1_chr1_196_01 + NC_000001.9:g.197705366_197706856del chr1 214570896 214576989 RIP_L1_chr1_214_02 - NC_000001.9:g.216249125_216255217del chr1 214634032 214634884 RIP_L1_chr1_214_01 + NC_000001.9:g.216312261_216313112del chr1 218216215 218216217 RIP_L1_chr1_218_01 - NC_000001.9:g.219894444_219894445ins chr1 235178357 235179291 RIP_L1_chr1_235_01 + NC_000001.9:g.236918940_236919873del chr1 239381000 239381442 RIP_L1_chr1_239_01 + NC_000001.9:g.241121583_241122024del chr1 244176515 244182549 RIP_L1_chr1_244_01 + NC_000001.9:g.245917098_245923131del chr10 5002757 5003160 RIP_L1_chr10_005_01 + NC_000010.9:g.5002758_5003160del chr10 6451585 6457635 RIP_L1_chr10_006_01 - NC_000010.9:g.6451586_6457635del chr10 13299273 13300746 RIP_L1_chr10_013_01 + NC_000010.9:g.13299274_13300746del chr10 18583815 18583817 RIP_L1_chr10_018_01 + NC_000010.9:g.18583816_18583817ins chr10 29752159 29752724 RIP_L1_chr10_029_01 - NC_000010.9:g.29752160_29752724del chr10 58815999 58816001 RIP_L1_chr10_058_01 + NC_000010.9:g.58816000_58816001ins chr10 110442950 110442952 RIP_L1_chr10_110_01 + NC_000010.9:g.110442951_110442952ins chr10 111562113 111568206 RIP_L1_chr10_111_01 - NC_000010.9:g.111562114_111568206del chr10 117375170 117375172 RIP_L1_chr10_117_01 + NC_000010.9:g.117375171_117375172ins chr10 127735184 127735970 RIP_L1_chr10_127_01 + NC_000010.9:g.127735185_127735970del chr11 5203629 5203631 RIP_L1_chr11_005_01 - NC_000011.8:g.5203630_5203631ins chr11 9999209 9999211 RIP_L1_chr11_009_01 - NC_000011.8:g.9999210_9999211ins chr11 24306070 24312124 RIP_L1_chr11_024_01 + NC_000011.8:g.24306071_24312124del chr11 26374252 26374254 RIP_L1_chr11_026_01 + NC_000011.8:g.26374253_26374254ins chr11 37405385 37405472 RIP_L1_chr11_037_01 + NC_000011.8:g.37405386_37405472del chr11 37767755 37767757 RIP_L1_chr11_037_02 + NC_000011.8:g.37767756_37767757ins chr11 48712421 48712423 RIP_L1_chr11_048_01 + NC_000011.8:g.48712422_48712423ins chr11 49669596 49670141 RIP_L1_chr11_049_01 + NC_000011.8:g.49669597_49670141del chr11 55075381 55075383 RIP_L1_chr11_055_01 + NC_000011.8:g.55075382_55075383ins chr11 57928324 57928326 RIP_L1_chr11_057_01 + NC_000011.8:g.57928325_57928326ins chr11 60608319 60610492 RIP_L1_chr11_060_01 + NC_000011.8:g.60608320_60610492del chr11 67355595 67355597 RIP_L1_chr11_067_01 - NC_000011.8:g.67355596_67355597ins chr11 78066468 78072495 RIP_L1_chr11_078_01 - NC_000011.8:g.78066469_78072495del chr11 89196250 89197377 RIP_L1_chr11_089_01 - NC_000011.8:g.89196251_89197377del chr11 92790414 92790416 RIP_L1_chr11_092_01 + NC_000011.8:g.92790415_92790416ins chr11 93713452 93714314 RIP_L1_chr11_093_01 + NC_000011.8:g.93713453_93714314del chr11 94809028 94815087 RIP_L1_chr11_094_01 + NC_000011.8:g.94809029_94815087del chr11 98978626 98984051 RIP_L1_chr11_098_01 + NC_000011.8:g.98978627_98984051del chr11 121852797 121854468 RIP_L1_chr11_121_01 + NC_000011.8:g.121852798_121854468del chr12 3478585 3484657 RIP_L1_chr12_003_01 - NC_000012.10:g.3478586_3484657del chr12 12824626 12824628 RIP_L1_chr12_012_01 - NC_000012.10:g.12824627_12824628ins chr12 33216923 33216925 RIP_L1_chr12_033_01 + NC_000012.10:g.33216924_33216925ins chr12 40524314 40525153 RIP_L1_chr12_040_01 - NC_000012.10:g.40524315_40525153del chr12 41543251 41543253 RIP_L1_chr12_041_01 - NC_000012.10:g.41543252_41543253ins chr12 42263726 42265816 RIP_L1_chr12_042_01 + NC_000012.10:g.42263727_42265816del chr12 60053227 60053520 RIP_L1_chr12_060_03 - NC_000012.10:g.60053228_60053520del chr12 60581311 60581484 RIP_L1_chr12_060_01 - NC_000012.10:g.60581312_60581484del chr12 60621486 60627538 RIP_L1_chr12_060_02 + NC_000012.10:g.60621487_60627538del chr12 82346511 82347076 RIP_L1_chr12_082_01 + NC_000012.10:g.82368175_82368739del chr12 83457771 83457773 RIP_L1_chr12_083_01 - NC_000012.10:g.83479435_83479436ins chr12 125308396 125314477 RIP_L1_chr12_125_01 - NC_000012.10:g.125349470_125355550del chr13 29113836 29119844 RIP_L1_chr13_029_01 - NC_000013.9:g.29113837_29119844del chr13 45804899 45805037 RIP_L1_chr13_045_01 - NC_000013.9:g.45804900_45805037del chr13 47754435 47754437 RIP_L1_chr13_047_01 + NC_000013.9:g.47754436_47754437ins chr13 56691455 56692640 RIP_L1_chr13_056_01 - NC_000013.9:g.56691456_56692640del chr13 60119097 60119099 RIP_L1_chr13_060_02 - NC_000013.9:g.60119098_60119099ins chr13 60360440 60360442 RIP_L1_chr13_060_01 - NC_000013.9:g.60360441_60360442ins chr13 71866676 71866678 RIP_L1_chr13_071_01 + NC_000013.9:g.71866677_71866678ins chr13 85238146 85238148 RIP_L1_chr13_085_01 - NC_000013.9:g.85238147_85238148ins chr13 85719409 85719411 RIP_L1_chr13_085_02 + NC_000013.9:g.85719410_85719411ins chr13 87649207 87651105 RIP_L1_chr13_087_01 - NC_000013.9:g.87649208_87651105del chr14 19624316 19624498 RIP_L1_chr14_019_01 - NC_000014.7:g.19624317_19624498del chr14 28797799 28798553 RIP_L1_chr14_028_01 + NC_000014.7:g.28797800_28798553del chr14 29924374 29924376 RIP_L1_chr14_029_01 + NC_000014.7:g.29924375_29924376ins chr14 39168159 39169964 RIP_L1_chr14_039_01 - NC_000014.7:g.39168160_39169964del chr14 42738617 42738619 RIP_L1_chr14_042_01 - NC_000014.7:g.42738618_42738619ins chr14 44244002 44250057 RIP_L1_chr14_044_01 - NC_000014.7:g.44244003_44250057del chr14 46265412 46266723 RIP_L1_chr14_046_01 - NC_000014.7:g.46265413_46266723del chr14 47187691 47187693 RIP_L1_chr14_047_01 + NC_000014.7:g.47187692_47187693ins chr14 50589957 50590339 RIP_L1_chr14_050_01 - NC_000014.7:g.50589958_50590339del chr14 51474094 51474207 RIP_L1_chr14_051_01 - NC_000014.7:g.51474095_51474207del chr14 58290154 58290156 RIP_L1_chr14_058_01 + NC_000014.7:g.58290155_58290156ins chr14 80538879 80539180 RIP_L1_chr14_080_01 - NC_000014.7:g.80538880_80539180del chr14 82705605 82706236 RIP_L1_chr14_082_01 - NC_000014.7:g.82705606_82706236del chr15 21934131 21935021 RIP_L1_chr15_021_01 + NC_000015.8:g.21934132_21935021del chr15 27198773 27199188 RIP_L1_chr15_027_01 + NC_000015.8:g.27198774_27199188del chr15 51743406 51743408 RIP_L1_chr15_051_01 + NC_000015.8:g.51743407_51743408ins chr15 53005521 53011716 RIP_L1_chr15_053_01 - NC_000015.8:g.53005522_53011716del chr15 68808906 68814562 RIP_L1_chr15_068_01 + NC_000015.8:g.68808907_68814562del chr15 81348688 81348690 RIP_L1_chr15_081_01 - NC_000015.8:g.81348689_81348690ins chr15 98748761 98748763 RIP_L1_chr15_098_01 - NC_000015.8:g.98748762_98748763ins chr16 18740044 18745877 RIP_L1_chr16_018_01 - NC_000016.8:g.18740045_18745877del chr16 26957616 26957743 RIP_L1_chr16_026_01 - NC_000016.8:g.26957617_26957743del chr16 59467545 59471417 RIP_L1_chr16_059_02 + NC_000016.8:g.59467546_59471417del chr16 59487888 59488202 RIP_L1_chr16_059_01 + NC_000016.8:g.59487889_59488202del chr16 82228357 82234413 RIP_L1_chr16_082_01 + NC_000016.8:g.82228358_82234413del chr16 83046870 83049602 RIP_L1_chr16_083_01 + NC_000016.8:g.83046871_83049602del chr16 86808544 86810812 RIP_L1_chr16_086_01 - NC_000016.8:g.86808545_86810812del chr17 15451917 15451919 RIP_L1_chr17_015_01 + NC_000017.9:g.15451918_15451919ins chr17 25422429 25422448 RIP_L1_chr17_025_01 + NC_000017.9:g.25422430_25422448del chr17 26683722 26684063 RIP_L1_chr17_026_01 - NC_000017.9:g.26683723_26684063del chr17 29837722 29837724 RIP_L1_chr17_029_01 + NC_000017.9:g.29837723_29837724ins chr17 55942202 55942204 RIP_L1_chr17_055_01 + NC_000017.9:g.55942203_55942204ins chr17 65869024 65869026 RIP_L1_chr17_065_02 + NC_000017.9:g.65869025_65869026ins chr17 65966691 65972771 RIP_L1_chr17_065_01 + NC_000017.9:g.65966692_65972771del chr18 12171626 12177773 RIP_L1_chr18_012_03 + NC_000018.8:g.12171627_12177773del chr18 12192432 12198459 RIP_L1_chr18_012_02 - NC_000018.8:g.12192433_12198459del chr18 12481261 12481263 RIP_L1_chr18_012_01 + NC_000018.8:g.12481262_12481263ins chr18 39285549 39286526 RIP_L1_chr18_039_01 + NC_000018.8:g.39285550_39286526del chr18 46165010 46165272 RIP_L1_chr18_046_01 + NC_000018.8:g.46165011_46165272del chr18 49705055 49705057 RIP_L1_chr18_049_01 + NC_000018.8:g.49705056_49705057ins chr18 50016743 50016745 RIP_L1_chr18_050_02 + NC_000018.8:g.50016744_50016745ins chr18 50206965 50210957 RIP_L1_chr18_050_01 + NC_000018.8:g.50206966_50210957del chr18 67768250 67768252 RIP_L1_chr18_067_01 - NC_000018.8:g.67768251_67768252ins chr18 70839484 70840318 RIP_L1_chr18_070_01 + NC_000018.8:g.70839485_70840318del chr19 56867748 56869325 RIP_L1_chr19_056_01 - NC_000019.8:g.56867749_56869325del chr2 2231715 2233484 RIP_L1_chr2_002_01 + NC_000002.10:g.2240426_2242194del chr2 4274678 4280725 RIP_L1_chr2_004_01 + NC_000002.10:g.4759185_4765231del chr2 23102913 23102915 RIP_L1_chr2_023_01 + NC_000002.10:g.23044767_23044768ins chr2 34709278 34713227 RIP_L1_chr2_034_01 + NC_000002.10:g.34651132_34655080del chr2 36482069 36482071 RIP_L1_chr2_036_01 + NC_000002.10:g.36423923_36423924ins chr2 53537422 53539650 RIP_L1_chr2_053_01 + NC_000002.10:g.53479276_53481503del chr2 73266048 73266509 RIP_L1_chr2_073_01 - NC_000002.10:g.73207902_73208362del chr2 76438166 76440548 RIP_L1_chr2_076_01 - NC_000002.10:g.76380020_76382401del chr2 82978512 82979892 RIP_L1_chr2_082_01 + NC_000002.10:g.82920366_82921745del chr2 88045793 88046240 RIP_L1_chr2_088_02 + NC_000002.10:g.87987647_87988093del chr2 88868507 88871544 RIP_L1_chr2_088_01 + NC_000002.10:g.88810361_88813397del chr2 97257884 97259358 RIP_L1_chr2_097_01 + NC_000002.10:g.97199738_97201211del chr2 97262156 97266441 RIP_L1_chr2_097_02 + NC_000002.10:g.97204010_97208294del chr2 101501290 101501292 RIP_L1_chr2_101_01 + NC_000002.10:g.101409205_101409206ins chr2 102641319 102647368 RIP_L1_chr2_102_01 - NC_000002.10:g.102549234_102555282del chr2 108090522 108090640 RIP_L1_chr2_108_01 - NC_000002.10:g.107998437_107998554del chr2 109911968 109912204 RIP_L1_chr2_109_01 - NC_000002.10:g.109911883_109912118del chr2 115960886 115962702 RIP_L1_chr2_115_01 + NC_000002.10:g.115961127_115962942del chr2 119369558 119375598 RIP_L1_chr2_119_01 - NC_000002.10:g.119369799_119375838del chr2 126225742 126226866 RIP_L1_chr2_126_01 + NC_000002.10:g.126225983_126227106del chr2 133891221 133894144 RIP_L1_chr2_133_01 + NC_000002.10:g.133773960_133776882del chr2 134800448 134803862 RIP_L1_chr2_134_01 - NC_000002.10:g.134683187_134686600del chr2 142622397 142622839 RIP_L1_chr2_142_01 - NC_000002.10:g.142505136_142505577del chr2 143844536 143844538 RIP_L1_chr2_143_01 + NC_000002.10:g.143727275_143727276ins chr2 144452256 144458297 RIP_L1_chr2_144_01 + NC_000002.10:g.144334995_144341035del chr2 159974632 159977155 RIP_L1_chr2_159_01 - NC_000002.10:g.159857372_159859894del chr2 169930639 169936669 RIP_L1_chr2_169_01 + NC_000002.10:g.169813379_169819408del chr2 176172188 176178228 RIP_L1_chr2_176_01 - NC_000002.10:g.176054928_176060967del chr2 180825659 180825661 RIP_L1_chr2_180_01 + NC_000002.10:g.180708399_180708400ins chr2 195877336 195877591 RIP_L1_chr2_195_01 + NC_000002.10:g.195760076_195760330del chr20 7044792 7050846 RIP_L1_chr20_007_01 - NC_000020.9:g.7044793_7050846del chr20 12729655 12735692 RIP_L1_chr20_012_01 - NC_000020.9:g.12729656_12735692del chr20 28111755 28112258 RIP_L1_chr20_028_01 + NC_000020.9:g.28111756_28112258del chr20 41384743 41384745 RIP_L1_chr20_041_02 + NC_000020.9:g.41384744_41384745ins chr20 41458025 41459206 RIP_L1_chr20_041_01 - NC_000020.9:g.41458026_41459206del chr20 53868027 53874023 RIP_L1_chr20_053_01 + NC_000020.9:g.53868028_53874023del chr21 18439430 18439432 RIP_L1_chr21_018_01 + NC_000021.7:g.18439431_18439432ins chr21 25747016 25747269 RIP_L1_chr21_025_01 + NC_000021.7:g.25747017_25747269del chr21 31134122 31136052 RIP_L1_chr21_031_01 + NC_000021.7:g.31134123_31136052del chr22 15370072 15373123 RIP_L1_chr22_015_01 + NC_000022.9:g.15375519_15378569del chr22 17086078 17086578 RIP_L1_chr22_017_01 + NC_000022.9:g.17091525_17092024del chr22 27383507 27389865 RIP_L1_chr22_027_01 + NC_000022.9:g.27388954_27395311del chr3 2023590 2025194 RIP_L1_chr3_002_01 + NC_000003.10:g.2023591_2025194del chr3 4041935 4044555 RIP_L1_chr3_004_02 - NC_000003.10:g.4041936_4044555del chr3 4055894 4056553 RIP_L1_chr3_004_01 - NC_000003.10:g.4055895_4056553del chr3 7322032 7322322 RIP_L1_chr3_007_01 - NC_000003.10:g.7322033_7322322del chr3 22067364 22072800 RIP_L1_chr3_022_01 + NC_000003.10:g.22067365_22072800del chr3 24962865 24962867 RIP_L1_chr3_024_01 - NC_000003.10:g.24962866_24962867ins chr3 26414509 26420540 RIP_L1_chr3_026_01 - NC_000003.10:g.26414510_26420540del chr3 33528210 33529079 RIP_L1_chr3_033_01 + NC_000003.10:g.33528211_33529079del chr3 34669365 34673181 RIP_L1_chr3_034_01 - NC_000003.10:g.34669366_34673181del chr3 40056691 40057488 RIP_L1_chr3_040_01 + NC_000003.10:g.40056692_40057488del chr3 41793079 41796497 RIP_L1_chr3_041_01 + NC_000003.10:g.41793080_41796497del chr3 59827942 59827944 RIP_L1_chr3_059_01 + NC_000003.10:g.59827943_59827944ins chr3 79299042 79299044 RIP_L1_chr3_079_01 - NC_000003.10:g.79299043_79299044ins chr3 81008002 81009292 RIP_L1_chr3_081_01 - NC_000003.10:g.81008003_81009292del chr3 81852582 81853099 RIP_L1_chr3_081_02 + NC_000003.10:g.81852583_81853099del chr3 83019347 83019647 RIP_L1_chr3_083_02 + NC_000003.10:g.83019348_83019647del chr3 83935817 83938039 RIP_L1_chr3_083_01 - NC_000003.10:g.83935818_83938039del chr3 89592668 89598696 RIP_L1_chr3_089_01 - NC_000003.10:g.89592669_89598696del chr3 100258189 100258191 RIP_L1_chr3_100_01 - NC_000003.10:g.100258190_100258191ins chr3 102762296 102762298 RIP_L1_chr3_102_01 + NC_000003.10:g.102762297_102762298ins chr3 106788696 106793718 RIP_L1_chr3_106_02 - NC_000003.10:g.106788697_106793718del chr3 106956549 106956812 RIP_L1_chr3_106_01 - NC_000003.10:g.106956550_106956812del chr3 136156613 136157253 RIP_L1_chr3_136_01 - NC_000003.10:g.136156606_136157245del chr3 138555028 138556125 RIP_L1_chr3_138_01 + NC_000003.10:g.138555021_138556117del chr3 153794435 153795853 RIP_L1_chr3_153_01 - NC_000003.10:g.153794428_153795845del chr3 156111572 156115334 RIP_L1_chr3_156_01 + NC_000003.10:g.156111565_156115326del chr3 156111577 156115328 RIP_L1_chr3_156_03 + NC_000003.10:g.156111570_156115320del chr3 156111586 156115333 RIP_L1_chr3_156_02 + NC_000003.10:g.156111579_156115325del chr3 187854807 187854809 RIP_L1_chr3_187_01 - NC_000003.10:g.187854800_187854801ins chr3 189318170 189318172 RIP_L1_chr3_189_01 + NC_000003.10:g.189318163_189318164ins chr4 8113880 8114964 RIP_L1_chr4_008_01 - NC_000004.10:g.8046710_8047793del chr4 15519437 15525511 RIP_L1_chr4_015_01 + NC_000004.10:g.15452267_15458340del chr4 16620521 16627012 RIP_L1_chr4_016_01 + NC_000004.10:g.16553351_16559841del chr4 17870721 17870723 RIP_L1_chr4_017_01 + NC_000004.10:g.17803551_17803552ins chr4 18846450 18847211 RIP_L1_chr4_018_01 + NC_000004.10:g.18779280_18780040del chr4 20837270 20843366 RIP_L1_chr4_020_01 + NC_000004.10:g.20770100_20776195del chr4 29209238 29210237 RIP_L1_chr4_029_01 - NC_000004.10:g.29142068_29143066del chr4 40807382 40807384 RIP_L1_chr4_040_01 + NC_000004.10:g.40661212_40661213ins chr4 44348192 44348659 RIP_L1_chr4_044_01 - NC_000004.10:g.44202022_44202488del chr4 45896935 45899123 RIP_L1_chr4_045_01 + NC_000004.10:g.45750765_45752952del chr4 57928277 57928662 RIP_L1_chr4_057_01 - NC_000004.10:g.57782107_57782491del chr4 58728213 58729265 RIP_L1_chr4_058_02 + NC_000004.10:g.58582043_58583094del chr4 58758634 58758636 RIP_L1_chr4_058_01 + NC_000004.10:g.58612464_58612465ins chr4 59463311 59463313 RIP_L1_chr4_059_01 + NC_000004.10:g.59317141_59317142ins chr4 66469885 66470187 RIP_L1_chr4_066_02 + NC_000004.10:g.66323715_66324016del chr4 66638425 66638427 RIP_L1_chr4_066_01 - NC_000004.10:g.66492255_66492256ins chr4 70420598 70421013 RIP_L1_chr4_070_01 + NC_000004.10:g.70274428_70274842del chr4 71375383 71380848 RIP_L1_chr4_071_01 + NC_000004.10:g.71229213_71234677del chr4 78593452 78593719 RIP_L1_chr4_078_01 + NC_000004.10:g.78455298_78455564del chr4 79626312 79632374 RIP_L1_chr4_079_01 + NC_000004.10:g.79488158_79494219del chr4 81125854 81125856 RIP_L1_chr4_081_01 + NC_000004.10:g.80987700_80987701ins chr4 81245240 81251271 RIP_L1_chr4_081_02 + NC_000004.10:g.81107086_81113116del chr4 83286491 83288570 RIP_L1_chr4_083_01 + NC_000004.10:g.83148337_83150415del chr4 88625438 88631477 RIP_L1_chr4_088_01 - NC_000004.10:g.88487284_88493322del chr4 88841078 88843491 RIP_L1_chr4_088_02 + NC_000004.10:g.88702924_88705336del chr4 91953975 91960086 RIP_L1_chr4_091_01 - NC_000004.10:g.91815821_91821931del chr4 94916631 94922668 RIP_L1_chr4_094_01 - NC_000004.10:g.94778477_94784513del chr4 103144955 103145530 RIP_L1_chr4_103_01 + NC_000004.10:g.103006801_103007375del chr4 104230722 104233211 RIP_L1_chr4_104_01 - NC_000004.10:g.104092568_104095056del chr4 108485431 108489318 RIP_L1_chr4_108_01 - NC_000004.10:g.108347277_108351163del chr4 108634302 108635381 RIP_L1_chr4_108_02 + NC_000004.10:g.108496148_108497226del chr4 112986517 112986519 RIP_L1_chr4_112_01 + NC_000004.10:g.112848363_112848364ins chr4 113173561 113179599 RIP_L1_chr4_113_01 + NC_000004.10:g.113035407_113041444del chr4 120657798 120658276 RIP_L1_chr4_120_01 - NC_000004.10:g.120519644_120520121del chr4 121227448 121233517 RIP_L1_chr4_121_01 - NC_000004.10:g.121089294_121095362del chr4 123931389 123935610 RIP_L1_chr4_123_01 - NC_000004.10:g.123793235_123797455del chr4 125301171 125302791 RIP_L1_chr4_125_01 - NC_000004.10:g.125163017_125164636del chr4 137572257 137578306 RIP_L1_chr4_137_01 - NC_000004.10:g.137434103_137440151del chr4 139826457 139830827 RIP_L1_chr4_139_01 + NC_000004.10:g.139688303_139692672del chr4 141960833 141960835 RIP_L1_chr4_141_01 + NC_000004.10:g.141822679_141822680ins chr4 147582744 147582746 RIP_L1_chr4_147_01 - NC_000004.10:g.147444590_147444591ins chr4 147897433 147900797 RIP_L1_chr4_147_02 + NC_000004.10:g.147759279_147762642del chr4 152698326 152699157 RIP_L1_chr4_152_01 - NC_000004.10:g.152560172_152561002del chr4 165015916 165016737 RIP_L1_chr4_165_01 - NC_000004.10:g.164877762_164878582del chr4 168051777 168057797 RIP_L1_chr4_168_01 + NC_000004.10:g.167913623_167919642del chr4 176106459 176106461 RIP_L1_chr4_176_01 - NC_000004.10:g.175968305_175968306ins chr4 182251950 182253437 RIP_L1_chr4_182_01 - NC_000004.10:g.182113796_182115282del chr4 190433162 190439421 RIP_L1_chr4_190_01 + NC_000004.10:g.190295008_190301266del chr5 2021409 2024378 RIP_L1_chr5_002_01 + NC_000005.8:g.2021410_2024378del chr5 8802502 8802504 RIP_L1_chr5_008_02 + NC_000005.8:g.8802503_8802504ins chr5 8802527 8802529 RIP_L1_chr5_008_01 + NC_000005.8:g.8802528_8802529ins chr5 15959548 15965662 RIP_L1_chr5_015_01 - NC_000005.8:g.15959549_15965662del chr5 24406298 24409193 RIP_L1_chr5_024_01 - NC_000005.8:g.24406299_24409193del chr5 33832944 33832946 RIP_L1_chr5_033_02 + NC_000005.8:g.33832945_33832946ins chr5 33833310 33833312 RIP_L1_chr5_033_01 + NC_000005.8:g.33833311_33833312ins chr5 34183702 34189726 RIP_L1_chr5_034_01 + NC_000005.8:g.34183703_34189726del chr5 40077567 40077569 RIP_L1_chr5_040_01 - NC_000005.8:g.40077568_40077569ins chr5 41635206 41635880 RIP_L1_chr5_041_01 + NC_000005.8:g.41635207_41635880del chr5 57715757 57721852 RIP_L1_chr5_057_01 + NC_000005.8:g.57715758_57721852del chr5 68299432 68299434 RIP_L1_chr5_068_01 + NC_000005.8:g.68299433_68299434ins chr5 69015444 69015505 RIP_L1_chr5_069_05 - NC_000005.8:g.69015445_69015505del chr5 69015444 69015505 RIP_L1_chr5_069_02 - NC_000005.8:g.69015445_69015505del chr5 69202119 69202181 RIP_L1_chr5_069_03 + NC_000005.8:g.69202120_69202181del chr5 69595182 69595244 RIP_L1_chr5_069_04 - NC_000005.8:g.69595183_69595244del chr5 69891518 69891580 RIP_L1_chr5_069_01 - NC_000005.8:g.69891519_69891580del chr5 70595487 70595549 RIP_L1_chr5_070_01 - NC_000005.8:g.70595488_70595549del chr5 77383435 77383437 RIP_L1_chr5_077_01 - NC_000005.8:g.77383436_77383437ins chr5 79110468 79116517 RIP_L1_chr5_079_01 - NC_000005.8:g.79110469_79116517del chr5 89486536 89486538 RIP_L1_chr5_089_01 + NC_000005.8:g.89486537_89486538ins chr5 96892178 96892180 RIP_L1_chr5_096_01 + NC_000005.8:g.96892179_96892180ins chr5 103882186 103888225 RIP_L1_chr5_103_01 + NC_000005.8:g.103882187_103888225del chr5 108622987 108629020 RIP_L1_chr5_108_01 + NC_000005.8:g.108622988_108629020del chr5 112203764 112203766 RIP_L1_chr5_112_01 + NC_000005.8:g.112203765_112203766ins chr5 132946878 132952889 RIP_L1_chr5_132_01 + NC_000005.8:g.132946879_132952889del chr5 132961996 132961998 RIP_L1_chr5_132_02 + NC_000005.8:g.132961997_132961998ins chr5 135774619 135775060 RIP_L1_chr5_135_01 + NC_000005.8:g.135774620_135775060del chr5 147318213 147320721 RIP_L1_chr5_147_01 - NC_000005.8:g.147318214_147320721del chr5 151436622 151442640 RIP_L1_chr5_151_01 + NC_000005.8:g.151436623_151442640del chr5 151456435 151456556 RIP_L1_chr5_151_02 + NC_000005.8:g.151456436_151456556del chr5 154782268 154782270 RIP_L1_chr5_154_01 - NC_000005.8:g.154782269_154782270ins chr5 155421518 155427555 RIP_L1_chr5_155_01 - NC_000005.8:g.155421519_155427555del chr5 165780163 165781150 RIP_L1_chr5_165_01 + NC_000005.8:g.165780164_165781150del chr5 166326342 166332398 RIP_L1_chr5_166_01 - NC_000005.8:g.166326343_166332398del chr6 2363012 2369040 RIP_L1_chr6_002_01 - NC_000006.10:g.2363013_2369040del chr6 13611041 13611043 RIP_L1_chr6_013_01 + NC_000006.10:g.13611042_13611043ins chr6 16187537 16187539 RIP_L1_chr6_016_01 + NC_000006.10:g.16187538_16187539ins chr6 19873103 19879163 RIP_L1_chr6_019_01 + NC_000006.10:g.19873104_19879163del chr6 20060984 20061101 RIP_L1_chr6_020_01 - NC_000006.10:g.20060985_20061101del chr6 24919869 24925929 RIP_L1_chr6_024_01 - NC_000006.10:g.24919870_24925929del chr6 30028204 30028206 RIP_L1_chr6_030_01 + NC_000006.10:g.30028205_30028206ins chr6 32485877 32486631 RIP_L1_chr6_032_02 + NC_000006.10:g.32485878_32486631del chr6 32697488 32697490 RIP_L1_chr6_032_01 + NC_000006.10:g.32697489_32697490ins chr6 32784563 32784993 RIP_L1_chr6_032_03 - NC_000006.10:g.32784564_32784993del chr6 46418159 46418161 RIP_L1_chr6_046_01 + NC_000006.10:g.46418160_46418161ins chr6 51847539 51853559 RIP_L1_chr6_051_01 + NC_000006.10:g.51847540_51853559del chr6 55702865 55703089 RIP_L1_chr6_055_01 - NC_000006.10:g.55702866_55703089del chr6 57531044 57537079 RIP_L1_chr6_057_01 - NC_000006.10:g.57531045_57537079del chr6 57586118 57586814 RIP_L1_chr6_057_02 + NC_000006.10:g.57586119_57586814del chr6 63425740 63425742 RIP_L1_chr6_063_01 + NC_000006.10:g.63425741_63425742ins chr6 65533740 65533742 RIP_L1_chr6_065_01 - NC_000006.10:g.65533741_65533742ins chr6 66316759 66318742 RIP_L1_chr6_066_02 - NC_000006.10:g.66316760_66318742del chr6 66651774 66652551 RIP_L1_chr6_066_03 + NC_000006.10:g.66651775_66652551del chr6 66844284 66845022 RIP_L1_chr6_066_01 - NC_000006.10:g.66844285_66845022del chr6 70776959 70783010 RIP_L1_chr6_070_01 + NC_000006.10:g.70776960_70783010del chr6 74922167 74923304 RIP_L1_chr6_074_01 - NC_000006.10:g.74922168_74923304del chr6 78037491 78037493 RIP_L1_chr6_078_01 + NC_000006.10:g.78037492_78037493ins chr6 78805905 78805907 RIP_L1_chr6_078_02 + NC_000006.10:g.78805906_78805907ins chr6 85374876 85380939 RIP_L1_chr6_085_01 + NC_000006.10:g.85374877_85380939del chr6 86765471 86771510 RIP_L1_chr6_086_01 - NC_000006.10:g.86765472_86771510del chr6 97538305 97538307 RIP_L1_chr6_097_01 - NC_000006.10:g.97538306_97538307ins chr6 102198252 102198254 RIP_L1_chr6_102_01 - NC_000006.10:g.102198253_102198254ins chr6 108893164 108893166 RIP_L1_chr6_108_02 + NC_000006.10:g.108893165_108893166ins chr6 108893766 108893768 RIP_L1_chr6_108_01 + NC_000006.10:g.108893767_108893768ins chr6 110583437 110586460 RIP_L1_chr6_110_01 - NC_000006.10:g.110583438_110586460del chr6 113131640 113137677 RIP_L1_chr6_113_01 + NC_000006.10:g.113131641_113137677del chr6 125651489 125652361 RIP_L1_chr6_125_01 + NC_000006.10:g.125651490_125652361del chr6 127979776 127981411 RIP_L1_chr6_127_01 + NC_000006.10:g.127979777_127981411del chr6 129361222 129367267 RIP_L1_chr6_129_01 + NC_000006.10:g.129361223_129367267del chr6 133383526 133389578 RIP_L1_chr6_133_01 - NC_000006.10:g.133383527_133389578del chr6 142491802 142491804 RIP_L1_chr6_142_01 - NC_000006.10:g.142491803_142491804ins chr6 148237280 148237282 RIP_L1_chr6_148_01 + NC_000006.10:g.148237281_148237282ins chr6 153122103 153125903 RIP_L1_chr6_153_01 - NC_000006.10:g.153071683_153075482del chr6 162151645 162151647 RIP_L1_chr6_162_01 + NC_000006.10:g.162101225_162101226ins chr7 9407889 9409217 RIP_L1_chr7_009_01 + NC_000007.12:g.9601175_9602502del chr7 30252101 30258154 RIP_L1_chr7_030_01 + NC_000007.12:g.30445387_30451439del chr7 31297018 31298493 RIP_L1_chr7_031_01 - NC_000007.12:g.31490304_31491778del chr7 32163404 32166352 RIP_L1_chr7_032_01 - NC_000007.12:g.32356690_32359637del chr7 49497108 49497207 RIP_L1_chr7_049_01 - NC_000007.12:g.49690394_49690492del chr7 61217494 61217875 RIP_L1_chr7_061_01 - NC_000007.12:g.61410780_61411160del chr7 62053344 62059388 RIP_L1_chr7_062_01 - NC_000007.12:g.62246630_62252673del chr7 69272978 69273117 RIP_L1_chr7_069_01 + NC_000007.12:g.69466264_69466402del chr7 73658244 73658246 RIP_L1_chr7_073_01 + NC_000007.12:g.73851530_73851531ins chr7 87735957 87736400 RIP_L1_chr7_087_01 - NC_000007.12:g.87929243_87929685del chr7 91070911 91070913 RIP_L1_chr7_091_01 + NC_000007.12:g.91264197_91264198ins chr7 93061591 93067642 RIP_L1_chr7_093_01 - NC_000007.12:g.93254877_93260927del chr7 107423213 107423215 RIP_L1_chr7_107_01 + NC_000007.12:g.107616499_107616500ins chr7 108172173 108172175 RIP_L1_chr7_108_01 + NC_000007.12:g.108365459_108365460ins chr7 109941002 109947053 RIP_L1_chr7_109_01 - NC_000007.12:g.110134288_110140338del chr7 110078695 110078697 RIP_L1_chr7_110_02 + NC_000007.12:g.110271981_110271982ins chr7 110477520 110483553 RIP_L1_chr7_110_01 - NC_000007.12:g.110670806_110676838del chr7 113010126 113016158 RIP_L1_chr7_113_01 - NC_000007.12:g.113203412_113209443del chr7 129714604 129715201 RIP_L1_chr7_129_01 + NC_000007.12:g.129907890_129908486del chr7 133807261 133807677 RIP_L1_chr7_133_01 + NC_000007.12:g.134000547_134000962del chr7 141073649 141079698 RIP_L1_chr7_141_01 - NC_000007.12:g.141266935_141272983del chr7 143820407 143820545 RIP_L1_chr7_143_01 - NC_000007.12:g.144013693_144013830del chr7 144500875 144501032 RIP_L1_chr7_144_01 + NC_000007.12:g.144694161_144694317del chr8 5816856 5816858 RIP_L1_chr8_005_01 + NC_000008.9:g.5816857_5816858ins chr8 17903784 17904702 RIP_L1_chr8_017_01 - NC_000008.9:g.17903785_17904702del chr8 18471414 18471653 RIP_L1_chr8_018_02 - NC_000008.9:g.18471415_18471653del chr8 18498899 18500224 RIP_L1_chr8_018_01 + NC_000008.9:g.18498900_18500224del chr8 71746124 71747197 RIP_L1_chr8_071_01 - NC_000008.9:g.71746125_71747197del chr8 73950328 73956377 RIP_L1_chr8_073_01 - NC_000008.9:g.73950329_73956377del chr8 77499940 77500980 RIP_L1_chr8_077_01 - NC_000008.9:g.77499941_77500980del chr8 83903247 83903249 RIP_L1_chr8_083_01 + NC_000008.9:g.83903248_83903249ins chr8 87384148 87384150 RIP_L1_chr8_087_01 + NC_000008.9:g.87384149_87384150ins chr8 107628672 107628674 RIP_L1_chr8_107_01 - NC_000008.9:g.107628673_107628674ins chr8 109217150 109217152 RIP_L1_chr8_109_01 + NC_000008.9:g.109217151_109217152ins chr8 126664310 126670316 RIP_L1_chr8_126_01 + NC_000008.9:g.126664311_126670316del chr8 129534349 129540448 RIP_L1_chr8_129_01 - NC_000008.9:g.129534350_129540448del chr8 131110394 131110396 RIP_L1_chr8_131_01 - NC_000008.9:g.131110395_131110396ins chr8 135152110 135158197 RIP_L1_chr8_135_01 - NC_000008.9:g.135152111_135158197del chr8 137292706 137292708 RIP_L1_chr8_137_01 - NC_000008.9:g.137292707_137292708ins chr9 9226251 9226253 RIP_L1_chr9_009_01 + NC_000009.10:g.9226252_9226253ins chr9 10126522 10127713 RIP_L1_chr9_010_01 + NC_000009.10:g.10126523_10127713del chr9 12546848 12549646 RIP_L1_chr9_012_01 - NC_000009.10:g.12546849_12549646del chr9 18568669 18569517 RIP_L1_chr9_018_01 + NC_000009.10:g.18568670_18569517del chr9 44681974 44682543 RIP_L1_chr9_044_01 - NC_000009.10:g.46019226_46019794del chr9 67102656 67102658 RIP_L1_chr9_067_01 + NC_000009.10:g.68343958_68343959ins chr9 70007093 70007095 RIP_L1_chr9_070_01 + NC_000009.10:g.71967360_71967361ins chr9 85655684 85657338 RIP_L1_chr9_085_01 - NC_000009.10:g.87615951_87617604del chr9 89991440 89997489 RIP_L1_chr9_089_01 + NC_000009.10:g.91951707_91957755del chr9 91138033 91138035 RIP_L1_chr9_091_01 - NC_000009.10:g.93098300_93098301ins chr9 95539418 95545449 RIP_L1_chr9_095_01 + NC_000009.10:g.97499685_97505715del chr9 99695160 99697034 RIP_L1_chr9_099_01 - NC_000009.10:g.101655427_101657300del chr9 101523533 101524282 RIP_L1_chr9_101_01 - NC_000009.10:g.103483800_103484548del chr9 102152999 102153001 RIP_L1_chr9_102_01 + NC_000009.10:g.104113266_104113267ins chr9 105459770 105459772 RIP_L1_chr9_105_01 + NC_000009.10:g.107420037_107420038ins chr9 108644523 108644525 RIP_L1_chr9_108_01 + NC_000009.10:g.110604790_110604791ins chr9 110258934 110265029 RIP_L1_chr9_110_01 + NC_000009.10:g.112219201_112225295del chrX 11485022 11491056 RIP_L1_chrX_011_01 + NC_000023.9:g.11635287_11641320del chrX 11712855 11719092 RIP_L1_chrX_011_02 - NC_000023.9:g.11863120_11869356del chrX 16187352 16187869 RIP_L1_chrX_016_01 + NC_000023.9:g.16337617_16338133del chrX 19981885 19981887 RIP_L1_chrX_019_02 + NC_000023.9:g.20132150_20132151ins chrX 30858023 30858025 RIP_L1_chrX_030_01 - NC_000023.9:g.31008288_31008289ins chrX 31653045 31653047 RIP_L1_chrX_031_01 - NC_000023.9:g.31803310_31803311ins chrX 31994692 31994694 RIP_L1_chrX_031_02 + NC_000023.9:g.32144957_32144958ins chrX 32989131 32989133 RIP_L1_chrX_032_01 - NC_000023.9:g.33139396_33139397ins chrX 37407449 37407451 RIP_L1_chrX_037_01 + NC_000023.9:g.37536177_37536178ins chrX 37411154 37411156 RIP_L1_chrX_037_02 + NC_000023.9:g.37539882_37539883ins chrX 42520866 42520868 RIP_L1_chrX_042_01 + NC_000023.9:g.42649557_42649558ins chrX 46453536 46453538 RIP_L1_chrX_046_01 + NC_000023.9:g.46582227_46582228ins chrX 47875144 47876423 RIP_L1_chrX_047_01 - NC_000023.9:g.48003835_48005113del chrX 55468180 55468182 RIP_L1_chrX_055_01 - NC_000023.9:g.55601885_55601886ins chrX 69603885 69603887 RIP_L1_chrX_069_01 + NC_000023.9:g.69737590_69737591ins chrX 80902797 80908835 RIP_L1_chrX_080_01 + NC_000023.9:g.80983309_80989346del chrX 81552795 81554291 RIP_L1_chrX_081_01 - NC_000023.9:g.81633307_81634802del chrX 82120738 82126789 RIP_L1_chrX_082_01 - NC_000023.9:g.82201250_82207300del chrX 85020105 85020107 RIP_L1_chrX_085_01 - NC_000023.9:g.85100617_85100618ins chrX 90754777 90755033 RIP_L1_chrX_090_01 + NC_000023.9:g.90835289_90835544del chrX 95115123 95125736 RIP_L1_chrX_095_01 - NC_000023.9:g.95195635_95206247del chrX 118351302 118357556 RIP_L1_chrX_118_01 - NC_000023.9:g.118453449_118459702del chrX 124803254 124803481 RIP_L1_chrX_124_01 + NC_000023.9:g.124905401_124905627del chrX 136870745 136872007 RIP_L1_chrX_136_01 + NC_000023.9:g.136972892_136974153del chrX 138356099 138356101 RIP_L1_chrX_138_01 + NC_000023.9:g.138458246_138458247ins chrX 138368483 138368485 RIP_L1_chrX_138_02 + NC_000023.9:g.138470630_138470631ins chrX 141291152 141297236 RIP_L1_chrX_141_01 + NC_000023.9:g.141393299_141399382del chrX 143132521 143135495 RIP_L1_chrX_143_01 + NC_000023.9:g.143234668_143237641del chrX 146264798 146264891 RIP_L1_chrX_146_01 + NC_000023.9:g.146366945_146367037del chrX 146440797 146446869 RIP_L1_chrX_146_02 + NC_000023.9:g.146542944_146549015del chrX 150259167 150259169 RIP_L1_chrX_150_01 + NC_000023.9:g.150339258_150339259ins chrX 153722116 153722118 RIP_L1_chrX_153_02 - NC_000023.9:g.153811607_153811608ins chrX 153722720 153722722 RIP_L1_chrX_153_01 - NC_000023.9:g.153812211_153812212ins chr1 24904008 24906815 RIP_SVA_chr1_024_01 - NC_000001.9:g.25031290_25034096del chr1 45357748 45358660 RIP_SVA_chr1_045_01 + NC_000001.9:g.45461243_45462154del chr1 46417903 46420646 RIP_SVA_chr1_046_01 + NC_000001.9:g.46478471_46481213del chr1 86392760 86395044 RIP_SVA_chr1_086_01 + NC_000001.9:g.86453328_86455611del chr1 113323380 113325819 RIP_SVA_chr1_113_01 + NC_000001.9:g.113412862_113415300del chr1 155463529 155463531 RIP_SVA_chr1_155_01 - NC_000001.9:g.156917081_156917082ins chr1 208859547 208861011 RIP_SVA_chr1_208_01 - NC_000001.9:g.210537776_210539239del chr11 20525765 20527754 RIP_SVA_chr11_020_01 + NC_000011.8:g.20525766_20527754del chr12 68881130 68883844 RIP_SVA_chr12_068_01 + NC_000012.10:g.68881131_68883844del chr13 42437808 42439447 RIP_SVA_chr13_042_01 + NC_000013.9:g.42437809_42439447del chr13 48849414 48851857 RIP_SVA_chr13_048_01 + NC_000013.9:g.48849415_48851857del chr14 34577465 34579258 RIP_SVA_chr14_034_01 + NC_000014.7:g.34577466_34579258del chr14 64430148 64433293 RIP_SVA_chr14_064_01 - NC_000014.7:g.64430149_64433293del chr17 18731877 18732888 RIP_SVA_chr17_018_01 - NC_000017.9:g.18731878_18732888del chr17 26329732 26332540 RIP_SVA_chr17_026_01 - NC_000017.9:g.26329733_26332540del chr17 61695518 61696576 RIP_SVA_chr17_061_01 + NC_000017.9:g.61695519_61696576del chr19 57787833 57789420 RIP_SVA_chr19_057_01 - NC_000019.8:g.57787834_57789420del chr19 58380988 58383763 RIP_SVA_chr19_058_01 - NC_000019.8:g.58380989_58383763del chr2 10992668 10994651 RIP_SVA_chr2_010_01 - NC_000002.10:g.10959522_10961504del chr2 41884806 41887516 RIP_SVA_chr2_041_01 + NC_000002.10:g.41826660_41829369del chr2 48693502 48696518 RIP_SVA_chr2_048_01 - NC_000002.10:g.48635356_48638371del chr2 113867571 113869841 RIP_SVA_chr2_113_01 + NC_000002.10:g.113867812_113870081del chr2 170467024 170469458 RIP_SVA_chr2_170_01 - NC_000002.10:g.170349764_170352197del chr2 201972163 201974946 RIP_SVA_chr2_201_01 - NC_000002.10:g.201854903_201857685del chr2 208300000 208302290 RIP_SVA_chr2_208_01 + NC_000002.10:g.208182740_208185029del chr2 216915448 216918004 RIP_SVA_chr2_216_01 - NC_000002.10:g.216798188_216800743del chr2 223585695 223588176 RIP_SVA_chr2_223_01 - NC_000002.10:g.223468435_223470915del chr20 2751161 2754409 RIP_SVA_chr20_002_01 + NC_000020.9:g.2751162_2754409del chr20 42109553 42109945 RIP_SVA_chr20_042_01 + NC_000020.9:g.42109554_42109945del chr20 52299658 52300749 RIP_SVA_chr20_052_01 - NC_000020.9:g.52299659_52300749del chr22 22520502 22523059 RIP_SVA_chr22_022_01 + NC_000022.9:g.22525949_22528505del chr22 25492629 25494346 RIP_SVA_chr22_025_01 - NC_000022.9:g.25498076_25499792del chr22 39464630 39467134 RIP_SVA_chr22_039_01 - NC_000022.9:g.39470077_39472580del chr3 147296336 147298313 RIP_SVA_chr3_147_01 + NC_000003.10:g.147296329_147298305del chr3 195602468 195603218 RIP_SVA_chr3_195_01 + NC_000003.10:g.195602461_195603210del chr5 32243461 32245520 RIP_SVA_chr5_032_01 + NC_000005.8:g.32243462_32245520del chr5 43122167 43125053 RIP_SVA_chr5_043_01 - NC_000005.8:g.43122168_43125053del chr5 75502350 75504657 RIP_SVA_chr5_075_01 + NC_000005.8:g.75502351_75504657del chr5 137050476 137051785 RIP_SVA_chr5_137_01 + NC_000005.8:g.137050477_137051785del chr5 176320203 176322779 RIP_SVA_chr5_176_01 + NC_000005.8:g.176320204_176322779del chr6 4982246 4984167 RIP_SVA_chr6_004_01 - NC_000006.10:g.4982247_4984167del chr6 29793466 29796059 RIP_SVA_chr6_029_01 + NC_000006.10:g.29793467_29796059del chr6 30007760 30009505 RIP_SVA_chr6_030_01 + NC_000006.10:g.30007761_30009505del chr6 74426246 74428428 RIP_SVA_chr6_074_01 - NC_000006.10:g.74426247_74428428del chr6 125750463 125753051 RIP_SVA_chr6_125_01 - NC_000006.10:g.125750464_125753051del chr6 158518690 158519475 RIP_SVA_chr6_158_01 + NC_000006.10:g.158468270_158469054del chr7 958318 960895 RIP_SVA_chr7_000_01 - NC_000007.12:g.1151604_1154180del chr7 10277555 10279373 RIP_SVA_chr7_010_01 - NC_000007.12:g.10470841_10472658del chr7 20480527 20482606 RIP_SVA_chr7_020_01 + NC_000007.12:g.20673813_20675891del chr7 24830700 24833093 RIP_SVA_chr7_024_01 + NC_000007.12:g.25023986_25026378del chr7 55060966 55063270 RIP_SVA_chr7_055_01 - NC_000007.12:g.55254252_55256555del chr7 65301808 65304254 RIP_SVA_chr7_065_01 - NC_000007.12:g.65495094_65497539del chr7 100594700 100597230 RIP_SVA_chr7_100_01 - NC_000007.12:g.100787986_100790515del chr7 137753710 137754463 RIP_SVA_chr7_137_01 + NC_000007.12:g.137946996_137947748del chr7 151719350 151721953 RIP_SVA_chr7_151_01 - NC_000007.12:g.151912636_151915238del chr8 43152893 43155536 RIP_SVA_chr8_043_01 - NC_000008.9:g.43152894_43155536del chr8 48393957 48393959 RIP_SVA_chr8_048_01 - NC_000008.9:g.48393958_48393959ins chr8 52608589 52610856 RIP_SVA_chr8_052_01 + NC_000008.9:g.52608590_52610856del chr9 33413375 33414654 RIP_SVA_chr9_033_01 + NC_000009.10:g.33413376_33414654del chr9 81553916 81556480 RIP_SVA_chr9_081_01 + NC_000009.10:g.83514183_83516746del chr9 105481491 105481493 RIP_SVA_chr9_105_01 + NC_000009.10:g.107441758_107441759ins chr9 107113008 107114999 RIP_SVA_chr9_107_01 + NC_000009.10:g.109073275_109075265del chrX 100421230 100421232 RIP_SVA_chrX_100_01 - NC_000023.9:g.100501742_100501743ins chr16 88332509 88410567 FANCA_00034 - NM_000135.2:c.-43-?_4368+?del chr16 88410445 88410566 FANCA_00010 - NM_000135.2:c.-42-?_79+?del chr16 88408428 88410566 FANCA_00026 - NM_000135.2:c.-42-?_283+?del chr16 88404615 88410566 FANCA_00007 - NM_000135.2:c.-42-?_522+?del chr16 88402202 88410566 FANCA_00009 - NM_000135.2:c.-42-?_596+?del chr16 88399188 88410566 FANCA_00031 - NM_000135.2:c.-42-?_709+?del chr16 88397167 88410566 FANCA_00033 - NM_000135.2:c.-42-?_792+?del chr16 88389814 88410566 FANCA_00022 - NM_000135.2:c.-42-?_1006+?del chr16 88385311 88410566 FANCA_00025 - NM_000135.2:c.-42-?_1359+?del chr16 88369650 88410566 FANCA_00005 - NM_000135.2:c.-42-?_1900+?del chr16 88352485 88410566 FANCA_00011 - NM_000135.2:c.-42-?_2981+?del chr16 88346046 88410566 FANCA_00003 - NM_000135.2:c.-42-?_3066+?del chr16 88338867 88410566 FANCA_00028 - NM_000135.2:c.-42-?_3626+?del chr16 88334712 88410566 FANCA_00029 - NM_000135.2:c.-42-?_3828+?del chr16 88332509 88410566 FANCA_00008 - NM_000135.2:c.-42-?_4368+?del chr16 88410523 88410524 FANCA_00002 - NM_000135.2:c.1A>G chr16 88410523 88410524 FANCA_00019 - NM_000135.2:c.1A>T chr16 88410522 88410523 FANCA_00004 - NM_000135.2:c.2T>C chr16 88410500 88410501 FANCA_00021 - NM_000135.2:c.24C>G chr16 88410455 88410481 FANCA_00012 - NM_000135.2:c.44_69del26 chr16 88410459 88410460 FANCA_00013 - NM_000135.2:c.65G>A chr16 88410458 88410459 FANCA_00014 - NM_000135.2:c.66G>A chr16 88404615 88409895 FANCA_00039 - NM_000135.2:c.80-?_522+?del chr16 88332509 88409895 FANCA_00038 - NM_000135.2:c.80-?_4368+?del chr16 88409874 88409875 FANCA_00015 - NM_000135.2:c.100A>T chr16 88409846 88409847 FANCA_00035 - NM_000135.2:c.128T>A chr16 88409820 88409821 FANCA_00016 - NM_000135.2:c.154C>T chr16 88409811 88409812 FANCA_00017 - NM_000135.2:c.163C>T chr16 88409801 88409802 FANCA_00036 - NM_000135.2:c.173dupA chr16 88409783 88409784 FANCA_00037 - NM_000135.2:c.189+2T>A chr16 88408522 88408523 FANCA_00018 - NM_000135.2:c.190-1G>T chr16 88408428 88408522 FANCA_00040 - NM_000135.2:c.190-?_283+?del chr16 88402202 88408522 FANCA_00048 - NM_000135.2:c.190-?_596+?del chr16 88332509 88408522 FANCA_00041 - NM_000135.2:c.190-?_4368+?del chr16 88408436 88408437 FANCA_00049 - NM_000135.2:c.275C>A chr16 88397169 88397170 FANCA_00054 - NM_000135.2:c.790C>T chr16 88408425 88408426 FANCA_00020 - NM_000135.2:c.283+3A>C chr16 88404615 88404980 FANCA_00052 - NM_000135.2:c.284-?_522+?del chr16 88402202 88404980 FANCA_00053 - NM_000135.2:c.284-?_596+?del chr16 88399188 88404980 FANCA_00056 - NM_000135.2:c.284-?_709+?del chr16 88363745 88404980 FANCA_00050 - NM_000135.2:c.284-?_2504+?del chr16 88333386 88404980 FANCA_00051 - NM_000135.2:c.284-?_4010+?del chr16 88404615 88404980 FANCA_00057 - NM_000135.2:c.284_522del chr16 88404968 88404969 FANCA_00331 - NM_000135.2:c.295C>T chr16 88404925 88404927 FANCA_00067 - NM_000135.2:c.337_338delTC chr16 88404862 88404863 FANCA_00023 - NM_000135.2:c.401dupC chr16 88404846 88404848 FANCA_00024 - NM_000135.2:c.416_417delTG chr16 88404712 88404713 FANCA_00068 - NM_000135.2:c.427-2A>G chr16 88404615 88404711 FANCA_00027 - NM_000135.2:c.427-?_522+?del chr16 88404632 88404633 FANCA_00070 - NM_000135.2:c.505G>T chr16 88402202 88402276 FANCA_00076 - NM_000135.2:c.523-?_596+?del chr16 88397167 88402276 FANCA_00077 - NM_000135.2:c.523-?_792+?del chr16 88385311 88402276 FANCA_00032 - NM_000135.2:c.523-?_1359+?del chr16 88372709 88402276 FANCA_00071 - NM_000135.2:c.523-?_1826+?del chr16 88402256 88402257 FANCA_00079 - NM_000135.2:c.542C>T chr16 88399302 88399303 FANCA_00044 - NM_000135.2:c.597-2A>G chr16 88397167 88399301 FANCA_00086 - NM_000135.2:c.597-?_792+?del chr16 88376767 88399301 FANCA_00081 - NM_000135.2:c.597-?_1626+?del chr16 88372709 88399301 FANCA_00043 - NM_000135.2:c.597-?_1826+?del chr16 88355857 88399301 FANCA_00085 - NM_000135.2:c.597-?_2852+?del chr16 88346046 88399301 FANCA_00042 - NM_000135.2:c.597-?_3066+?del chr16 88399268 88399269 FANCA_00087 - NM_000135.2:c.629T>G chr16 88399187 88399188 FANCA_00045 - NM_000135.2:c.709+1G>A chr16 88399183 88399184 FANCA_00046 - NM_000135.2:c.709+5G>A chr16 88399183 88399184 FANCA_00047 - NM_000135.2:c.709+5G>T chr16 88397392 88397394 FANCA_00092 - NM_000135.2:c.710-143_710-144insCT chr16 88397251 88397252 FANCA_00095 - NM_000135.2:c.710-2A>G chr16 88397227 88397228 FANCA_00096 - NM_000135.2:c.732G>C chr16 88393549 88393550 FANCA_00101 - NM_000135.2:c.793-3C>G chr16 88393513 88393547 FANCA_00121 - NM_000135.2:c.793-?_826+?del chr16 88385311 88393547 FANCA_00102 - NM_000135.2:c.793-?_1359+?del chr16 88373777 88393547 FANCA_00113 - NM_000135.2:c.793-?_1715-?del chr16 88372709 88393547 FANCA_00115 - NM_000135.2:c.793-?_1826+?del chr16 88369650 88393547 FANCA_00117 - NM_000135.2:c.793-?_1900+?del chr16 88343638 88393547 FANCA_00118 - NM_000135.2:c.793-?_3239+?del chr16 88332509 88393547 FANCA_00120 - NM_000135.2:c.793-?_4368+?del chr16 88393531 88393545 FANCA_00055 - NM_000135.2:c.795-?_808+?del chr16 88393528 88393529 FANCA_00058 - NM_000135.2:c.811C>T chr16 88393510 88393511 FANCA_00059 - NM_000135.2:c.826+3delA chr16 88393141 88393142 FANCA_00063 - NM_000135.2:c.827-1G>T chr16 88393142 88393143 FANCA_00066 - NM_000135.2:c.827-2A>G chr16 88386379 88393141 FANCA_00061 - NM_000135.2:c.827-?_1083+?del chr16 88385835 88393141 FANCA_00062 - NM_000135.2:c.827-?_1225+?del chr16 88376767 88393141 FANCA_00060 - NM_000135.2:c.827-?_1626+?del chr16 88393111 88393112 FANCA_00064 - NM_000135.2:c.856C>T chr16 88393105 88393106 FANCA_00065 - NM_000135.2:c.862G>T chr16 88393074 88393078 FANCA_00030 - NM_000135.2:c.890_893delGCTG chr16 88393073 88393074 FANCA_00069 - NM_000135.2:c.893+1G>T chr16 88389929 88389930 FANCA_00122 - NM_000135.2:c.894-3C>G chr16 88389928 88389929 FANCA_00075 - NM_000135.2:c.894-2A>G chr16 88389927 88389928 FANCA_00074 - NM_000135.2:c.894-1G>A chr16 88385311 88389927 FANCA_00072 - NM_000135.2:c.894-?_1359+?del chr16 88376767 88389927 FANCA_00073 - NM_000135.2:c.894-?_1626+?del chr16 88369650 88389927 FANCA_00124 - NM_000135.2:c.894-?_1900+?del chr16 88342567 88389927 FANCA_00125 - NM_000135.2:c.894-?_3348+?del chr16 88389849 88389850 FANCA_00078 - NM_000135.2:c.971T>G chr16 88389841 88389843 FANCA_00346 - NM_000135.2:c.978_979del chr16 88389830 88389834 FANCA_00080 - NM_000135.2:c.987_990delTCAC chr16 88389809 88389813 FANCA_00347 - NM_000135.2:c.1006+2_1006+5delTAGG chr16 88386456 88386457 FANCA_00082 - NM_000135.2:c.1007-1delG chr16 88363536 88386466 FANCA_00351 - NM_000135.2:c.1007-10_2504+209del chr16 88376767 88386456 FANCA_00348 - NM_000135.2:c.1007-?_1626+?del chr16 88365586 88386456 FANCA_00349 - NM_000135.2:c.1007-?_2151+?del chr16 88346046 88386456 FANCA_00350 - NM_000135.2:c.1007-?_3066+?del chr16 88386427 88386429 FANCA_00083 - NM_000135.2:c.1034_1035delAG chr16 88385835 88385977 FANCA_00084 - NM_000135.2:c.1084-?_1225+?del chr16 88385311 88385977 FANCA_00352 - NM_000135.2:c.1084-?_1359+?del chr16 88364074 88385977 FANCA_00353 - NM_000135.2:c.1084-?_2316+?del chr16 88385942 88385946 FANCA_00088 - NM_000135.2:c.1115_1118delTTGG chr16 88385936 88385937 FANCA_00354 - NM_000135.2:c.1124T>G chr16 88385895 88385897 FANCA_00090 - NM_000135.2:c.1164_1165delAG chr16 88385866 88385870 FANCA_00091 - NM_000135.2:c.1191_1194delTGTC chr16 88385446 88385451 FANCA_00093 - NM_000135.2:c.1226-6_1226-2del chr16 88385446 88385447 FANCA_00094 - NM_000135.2:c.1226-2A>G chr16 88385403 88385404 FANCA_00355 - NM_000135.2:c.1267C>T chr16 88385378 88385379 FANCA_00356 - NM_000135.2:c.1292dupT chr16 88385367 88385368 FANCA_00097 - NM_000135.2:c.1303C>T chr16 88385330 88385331 FANCA_00357 - NM_000135.2:c.1340C>G chr16 88385310 88385311 FANCA_00098 - NM_000135.2:c.1359+1G>C chr16 88378762 88378873 FANCA_00358 - NM_000135.2:c.1360-?_1470+?del chr16 88376767 88378873 FANCA_00099 - NM_000135.2:c.1360-?_1626+?del chr16 88372709 88378873 FANCA_00100 - NM_000135.2:c.1360-?_1826+?del chr16 88369650 88378873 FANCA_00359 - NM_000135.2:c.1360-?_1900+?del chr16 88365586 88378873 FANCA_00360 - NM_000135.2:c.1360-?_2151+?del chr16 88378773 88378774 FANCA_00103 - NM_000135.2:c.1459dupC chr16 88378768 88378769 FANCA_00361 - NM_000135.2:c.1464C>G chr16 88378762 88378763 FANCA_00362 - NM_000135.2:c.1470G>A chr16 88377011 88377012 FANCA_00111 - NM_000135.2:c.1471-1G>T chr16 88376915 88377011 FANCA_00104 - NM_000135.2:c.1471-?_1566+?del chr16 88376767 88377011 FANCA_00109 - NM_000135.2:c.1471-?_1626+?del chr16 88373777 88377011 FANCA_00363 - NM_000135.2:c.1471-?_1715+?del chr16 88372709 88377011 FANCA_00110 - NM_000135.2:c.1471-?_1826+?del chr16 88367179 88377011 FANCA_00105 - NM_000135.2:c.1471-?_2014+?del chr16 88365586 88377011 FANCA_00106 - NM_000135.2:c.1471-?_2151+?del chr16 88363745 88377011 FANCA_00107 - NM_000135.2:c.1471-?_2504+?del chr16 88352485 88377011 FANCA_00364 - NM_000135.2:c.1471-?_2981+?del chr16 88333386 88377011 FANCA_00108 - NM_000135.2:c.1471-?_4010+?del chr16 88377006 88377007 FANCA_00112 - NM_000135.2:c.1475A>G chr16 88376946 88376947 FANCA_00365 - NM_000135.2:c.1535C>G chr16 88376912 88376913 FANCA_00114 - NM_000135.2:c.1566+3A>C chr16 88376846 88376847 FANCA_00116 - NM_000135.2:c.1567-20A>G chr16 88376778 88376779 FANCA_00119 - NM_000135.2:c.1615delG chr16 88373777 88373866 FANCA_00366 - NM_000135.2:c.1627-?_1715+?del chr16 88372709 88373866 FANCA_00367 - NM_000135.2:c.1627-?_1826+?del chr16 88369650 88373866 FANCA_00123 - NM_000135.2:c.1627-?_1900+?del chr16 88365586 88373866 FANCA_00368 - NM_000135.2:c.1627-?_2151+?del chr16 88364074 88373866 FANCA_00369 - NM_000135.2:c.1627-?_2316+?del chr16 88358798 88373866 FANCA_00370 - NM_000135.2:c.1627-?_2778+?del chr16 88372851 88372912 FANCA_00371 - NM_000135.2:c.1716-?_1776+?del chr16 88369650 88372912 FANCA_00372 - NM_000135.2:c.1716-?_1900+?del chr16 88372885 88372890 FANCA_00373 - NM_000135.2:c.1738_1742delinsCCGCCT chr16 88372856 88372857 FANCA_00126 - NM_000135.2:c.1771C>T chr16 88372756 88372766 FANCA_00128 - NM_000135.2:c.1777-7_1779del chr16 88372709 88372759 FANCA_00374 - NM_000135.2:c.1777-?_1826+?del chr16 88367179 88372759 FANCA_00375 - NM_000135.2:c.1777-?_2014+?del chr16 88372743 88372744 FANCA_00131 - NM_000135.2:c.1792G>A chr16 88372720 88372722 FANCA_00376 - NM_000135.2:c.1814_1815delAG chr16 88369724 88369725 FANCA_00377 - NM_000135.2:c.1827-1G>A chr16 88358798 88369724 FANCA_00137 - NM_000135.2:c.1827-?_2778+?del chr16 88352485 88369724 FANCA_00378 - NM_000135.2:c.1827-?_2981+?del chr16 88369706 88369707 FANCA_00380 - NM_000135.2:c.1844delC chr16 88358798 88367293 FANCA_00147 - NM_000135.2:c.1901-?_2778+?del chr16 88352485 88367293 FANCA_00381 - NM_000135.2:c.1901-?_2981+?del chr16 88367249 88367250 FANCA_00142 - NM_000135.2:c.1944delG chr16 88367214 88367215 FANCA_00382 - NM_000135.2:c.1979T>C chr16 88367188 88367189 FANCA_00143 - NM_000135.2:c.2005C>T chr16 88365723 88365724 FANCA_00148 - NM_000135.2:c.2015-1G>T chr16 88365586 88365723 FANCA_00383 - NM_000135.2:c.2015-?_2151+?del chr16 88355857 88365723 FANCA_00384 - NM_000135.2:c.2015-?_2852+?del chr16 88342567 88365723 FANCA_00385 - NM_000135.2:c.2015-?_3348+?del chr16 88365711 88365712 FANCA_00149 - NM_000135.2:c.2026C>T chr16 88365686 88365687 FANCA_00150 - NM_000135.2:c.2051T>C chr16 88365671 88365672 FANCA_00151 - NM_000135.2:c.2066delG chr16 88365630 88365631 FANCA_00152 - NM_000135.2:c.2107C>T chr16 88365583 88365585 FANCA_00386 - NM_000135.2:c.2151+2_2151+3insG chr16 88357713 88365259 FANCA_00387 - NM_000135.2:c.2151+328_2778+1085del chr16 88358798 88364543 FANCA_00156 - NM_000135.2:c.2152-?_2778+?del chr16 88342567 88364543 FANCA_00388 - NM_000135.2:c.2152-?_3348+?del chr16 88364525 88364528 FANCA_00157 - NM_000135.2:c.2167_2169delCTG chr16 88364524 88364525 FANCA_00389 - NM_000135.2:c.2170A>C chr16 88364522 88364523 FANCA_00158 - NM_000135.2:c.2172dupG chr16 88364512 88364520 FANCA_00390 - NM_000135.2:c.2175_2182del chr16 88364464 88364465 FANCA_00391 - NM_000135.2:c.2222+8C>T chr16 88364157 88364158 FANCA_00392 - NM_000135.2:c.2233dupT chr16 88364108 88364109 FANCA_00393 - NM_000135.2:c.2282T>A chr16 88364100 88364101 FANCA_00164 - NM_000135.2:c.2290C>T chr16 88364087 88364088 FANCA_00165 - NM_000135.2:c.2303T>C chr16 88364076 88364077 FANCA_00166 - NM_000135.2:c.2314C>T chr16 88364072 88364075 FANCA_00394 - NM_000135.2:c.2316_2316+2delGGT chr16 88342567 88363933 FANCA_00395 - NM_000135.2:c.2317-?_3348+?del chr16 88363901 88363902 FANCA_00341 - NM_000135.2:c.2348G>T chr16 88363799 88363800 FANCA_00172 - NM_000135.2:c.2450T>C chr16 88363752 88363755 FANCA_00173 - NM_000135.2:c.2495_2497delTCT chr16 88363744 88363745 FANCA_00396 - NM_000135.2:c.2504+1G>A chr16 88363743 88363744 FANCA_00175 - NM_000135.2:c.2504+2T>C chr16 88363611 88363612 FANCA_00174 - NM_000135.2:c.2504+134A>G chr16 88332509 88361146 FANCA_00397 - NM_000135.2:c.2505-?_4368+?del chr16 88338867 88361146 FANCA_00398 - NM_000135.2:c.2505_3626del chr16 88361126 88361127 FANCA_00177 - NM_000135.2:c.2524delT chr16 88361123 88361124 FANCA_00178 - NM_000135.2:c.2527T>G chr16 88361121 88361122 FANCA_00343 - NM_000135.2:c.2529C>A chr16 88361114 88361118 FANCA_00006 - NM_000135.2:c.2533_2536delCTCT chr16 88361116 88361117 FANCA_00179 - NM_000135.2:c.2534T>C chr16 88361114 88361116 FANCA_00180 - NM_000135.2:c.2535_2536delCT chr16 88361104 88361105 FANCA_00181 - NM_000135.2:c.2546delC chr16 88361093 88361094 FANCA_00399 - NM_000135.2:c.2557C>T chr16 88361076 88361077 FANCA_00182 - NM_000135.2:c.2574C>G chr16 88361049 88361050 FANCA_00400 - NM_000135.2:c.2601G>T chr16 88358976 88358977 FANCA_00401 - NM_000135.2:c.2602-2A>C chr16 88358976 88358977 FANCA_00188 - NM_000135.2:c.2602-2A>T chr16 88358975 88358976 FANCA_00184 - NM_000135.2:c.2602-1G>A chr16 88352485 88358975 FANCA_00402 - NM_000135.2:c.2602-?_2981+?del chr16 88343638 88358975 FANCA_00403 - NM_000135.2:c.2602-?_3239+?del chr16 88358974 88358975 FANCA_00404 - NM_000135.2:c.2602T>G chr16 88358967 88358973 FANCA_00187 - NM_000135.2:c.2604_2609delTCAGTT chr16 88358970 88358971 FANCA_00189 - NM_000135.2:c.2606A>C chr16 88358944 88358945 FANCA_00190 - NM_000135.2:c.2632G>C chr16 88358940 88358941 FANCA_00405 - NM_000135.2:c.2636C>T chr16 88358937 88358938 FANCA_00406 - NM_000135.2:c.2639G>A chr16 88358898 88358899 FANCA_00191 - NM_000135.2:c.2678G>A chr16 88358868 88358869 FANCA_00192 - NM_000135.2:c.2708G>A chr16 88358845 88358847 FANCA_00193 - NM_000135.2:c.2730_2731delCT chr16 88358840 88358841 FANCA_00407 - NM_000135.2:c.2736dupA chr16 88358838 88358839 FANCA_00194 - NM_000135.2:c.2738A>C chr16 88358797 88358798 FANCA_00408 - NM_000135.2:c.2778+1G>A chr16 88358715 88358716 FANCA_00196 - NM_000135.2:c.2778+83C>G chr16 88355857 88355931 FANCA_00409 - NM_000135.2:c.2779_2852del chr16 88346046 88355931 FANCA_00197 - NM_000135.2:c.2779_3066del chr16 88342567 88355931 FANCA_00198 - NM_000135.2:c.2779_3348del chr16 88355903 88355904 FANCA_00200 - NM_000135.2:c.2806G>A chr16 88355902 88355903 FANCA_00201 - NM_000135.2:c.2807A>G chr16 88355879 88355898 FANCA_00202 - NM_000135.2:c.2812_2830dup chr16 88355893 88355895 FANCA_00203 - NM_000135.2:c.2815_2816ins19 chr16 88355865 88355884 FANCA_00410 - NM_000135.2:c.2826_2844dup19 chr16 88355878 88355880 FANCA_00411 - NM_000135.2:c.2830_2831ins19 chr16 88355869 88355870 FANCA_00204 - NM_000135.2:c.2840C>G chr16 88355858 88355859 FANCA_00205 - NM_000135.2:c.2851C>T chr16 88355857 88355858 FANCA_00412 - NM_000135.2:c.2852G>A chr16 88333916 88333917 FANCA_00284 - NM_000135.2:c.3920delA chr16 88352614 88352633 FANCA_00206 - NM_000135.2:c.2853-19_2853-1del chr16 88352615 88352616 FANCA_00207 - NM_000135.2:c.2853-2A>C chr16 88352485 88352614 FANCA_00413 - NM_000135.2:c.2853-?_2981+?del chr16 88346046 88352614 FANCA_00414 - NM_000135.2:c.2853-?_3066+?del chr16 88332509 88352614 FANCA_00415 - NM_000135.2:c.2853-?_4368+?del chr16 88352606 88352607 FANCA_00416 - NM_000135.2:c.2860T>A chr16 88352596 88352597 FANCA_00417 - NM_000135.2:c.2870G>A chr16 88352594 88352595 FANCA_00418 - NM_000135.2:c.2872delG chr16 88346046 88346131 FANCA_00419 - NM_000135.2:c.2982-?_3066+?del chr16 88332790 88346131 FANCA_00420 - NM_000135.2:c.2982-?_4260+?del chr16 88332509 88346131 FANCA_00209 - NM_000135.2:c.2982-?_4368+?del chr16 88346046 88346131 FANCA_00210 - NM_000135.2:c.2982_3066del chr16 88342567 88346131 FANCA_00421 - NM_000135.2:c.2982_3348del chr16 88346123 88346124 FANCA_00422 - NM_000135.2:c.2989A>T chr16 88346085 88346092 FANCA_00423 - NM_000135.2:c.3021_3027del chr16 88346069 88346070 FANCA_00424 - NM_000135.2:c.3043G>A chr16 88343723 88346052 FANCA_00211 - NM_000135.2:c.3061_3154del chr16 88346045 88346046 FANCA_00308 - NM_000135.2:c.3066+1G>A chr16 88343811 88343812 FANCA_00425 - NM_000135.2:c.3067-1G>A chr16 88343786 88343787 FANCA_00219 - NM_000135.2:c.3091C>T chr16 88343747 88343748 FANCA_00220 - NM_000135.2:c.3130C>T chr16 88343731 88343737 FANCA_00426 - NM_000135.2:c.3141_3146del6 chr16 88343714 88343715 FANCA_00221 - NM_000135.2:c.3163C>T chr16 88343713 88343714 FANCA_00222 - NM_000135.2:c.3164G>T chr16 88343689 88343690 FANCA_00224 - NM_000135.2:c.3188G>A chr16 88343638 88343639 FANCA_00227 - NM_000135.2:c.3239G>T chr16 88343556 88343557 FANCA_00428 - NM_000135.2:c.3239+82T>G chr16 88342676 88342677 FANCA_00230 - NM_000135.2:c.3240-1G>A chr16 88342652 88342653 FANCA_00233 - NM_000135.2:c.3263C>T chr16 88342627 88342628 FANCA_00429 - NM_000135.2:c.3288G>C chr16 88342599 88342600 FANCA_00430 - NM_000135.2:c.3316G>A chr16 88342586 88342587 FANCA_00236 - NM_000135.2:c.3329A>C chr16 88342577 88342578 FANCA_00431 - NM_000135.2:c.3338A>T chr16 88342576 88342577 FANCA_00432 - NM_000135.2:c.3339C>G chr16 88342549 88342550 FANCA_00433 - NM_000135.2:c.3348+18A>G chr16 88340798 88340799 FANCA_00239 - NM_000135.2:c.3349A>G chr16 88340797 88340798 FANCA_00435 - NM_000135.2:c.3350G>C chr16 88340765 88340766 FANCA_00240 - NM_000135.2:c.3382C>G chr16 88340756 88340757 FANCA_00241 - NM_000135.2:c.3391A>G chr16 88340748 88340752 FANCA_00242 - NM_000135.2:c.3396_3399delCCAC chr16 88340750 88340751 FANCA_00436 - NM_000135.2:c.3397delC chr16 88340749 88340750 FANCA_00243 - NM_000135.2:c.3398delA chr16 88340742 88340745 FANCA_00244 - NM_000135.2:c.3403_3405del chr16 88340738 88340739 FANCA_00437 - NM_000135.2:c.3408+1G>A chr16 88340581 88340582 FANCA_00438 - NM_000135.2:c.3424T>C chr16 88340515 88340516 FANCA_00439 - NM_000135.2:c.3490C>T chr16 88338867 88338980 FANCA_00440 - NM_000135.2:c.3514-?_3626+?del chr16 88338971 88338974 FANCA_00253 - NM_000135.2:c.3520_3522delTGG chr16 88338938 88338939 FANCA_00441 - NM_000135.2:c.3555G>A chr16 88338935 88338936 FANCA_00254 - NM_000135.2:c.3558dupG chr16 88338912 88338913 FANCA_00442 - NM_000135.2:c.3581C>T chr16 88338901 88338902 FANCA_00255 - NM_000135.2:c.3592C>T chr16 88338889 88338892 FANCA_00443 - NM_000135.2:c.3602_3604del chr16 88338869 88338870 FANCA_00444 - NM_000135.2:c.3624C>T chr16 88336848 88336850 FANCA_00445 - NM_000135.2:c.3627-2_3627-3del chr16 88336844 88336845 FANCA_00258 - NM_000135.2:c.3629dupT chr16 88336834 88336836 FANCA_00345 - NM_000135.2:c.3638_3639delCT chr16 88336834 88336835 FANCA_00259 - NM_000135.2:c.3639delT chr16 88336758 88336759 FANCA_00446 - NM_000135.2:c.3715G>T chr16 88336744 88336759 FANCA_00263 - NM_000135.2:c.3715_3729del chr16 88336749 88336754 FANCA_00447 - NM_000135.2:c.3720_3724del chr16 88336727 88336728 FANCA_00448 - NM_000135.2:c.3746T>C chr16 88336713 88336714 FANCA_00265 - NM_000135.2:c.3760G>T chr16 88336712 88336714 FANCA_00264 - NM_000135.2:c.3760_3761delGA chr16 88336710 88336712 FANCA_00266 - NM_000135.2:c.3762_3763insAG chr16 88336707 88336708 FANCA_00449 - NM_000135.2:c.3765+1G>T chr16 88334712 88334775 FANCA_00270 - NM_000135.2:c.3766-?_3828+?del chr16 88334764 88334767 FANCA_00450 - NM_000135.2:c.3774_3776delTTT chr16 88334754 88334755 FANCA_00271 - NM_000135.2:c.3786C>G chr16 88334750 88334753 FANCA_00272 - NM_000135.2:c.3788_3790delTCT chr16 88334727 88334728 FANCA_00274 - NM_000135.2:c.3813dupA chr16 88334008 88334009 FANCA_00275 - NM_000135.2:c.3829-1G>C chr16 88332509 88334008 FANCA_00451 - NM_000135.2:c.3829-?_4368+?del chr16 88333980 88333991 FANCA_00280 - NM_000135.2:c.3846_3856del11 chr16 88333958 88333959 FANCA_00452 - NM_000135.2:c.3878delA chr16 88333952 88333953 FANCA_00282 - NM_000135.2:c.3884T>A chr16 88333932 88333933 FANCA_00283 - NM_000135.2:c.3904T>C chr16 88333918 88333919 FANCA_00454 - NM_000135.2:c.3918dupT chr16 88333901 88333902 FANCA_00455 - NM_000135.2:c.3934+1G>A chr16 88333900 88333901 FANCA_00456 - NM_000135.2:c.3934+2T>C chr16 88333884 88333902 FANCA_00457 - NM_000135.2:c.3934+1_3934+18del chr16 88333425 88333426 FANCA_00292 - NM_000135.2:c.3971C>T chr16 88333414 88333415 FANCA_00293 - NM_000135.2:c.3982A>G chr16 88333386 88333387 FANCA_00459 - NM_000135.2:c.4010G>A chr16 88333368 88333387 FANCA_00295 - NM_000135.2:c.4010_4010+18del chr16 88333368 88333386 FANCA_00294 - NM_000135.2:c.4010+1_4010+18del chr16 88333193 88333194 FANCA_00299 - NM_000135.2:c.4015delC chr16 88333191 88333194 FANCA_00460 - NM_000135.2:c.4015_4017del chr16 88333187 88333192 FANCA_00300 - NM_000135.2:c.4017_4021delCTCCT chr16 88333172 88333173 FANCA_00461 - NM_000135.2:c.4036G>A chr16 88333126 88333140 FANCA_00301 - NM_000135.2:c.4069_4082del14 chr16 88333133 88333134 FANCA_00302 - NM_000135.2:c.4075G>T chr16 88333128 88333129 FANCA_00303 - NM_000135.2:c.4080G>C chr16 88333124 88333126 FANCA_00462 - NM_000135.2:c.4083_4084insG chr16 88333078 88333079 FANCA_00463 - NM_000135.2:c.4130C>G chr16 88332884 88332885 FANCA_00307 - NM_000135.2:c.4168-2A>G chr16 88332883 88332884 FANCA_00464 - NM_000135.2:c.4168-1G>C chr16 88332855 88332856 FANCA_00309 - NM_000135.2:c.4195G>C chr16 88332852 88332853 FANCA_00310 - NM_000135.2:c.4198C>T chr16 88332851 88332852 FANCA_00465 - NM_000135.2:c.4199G>A chr16 88332809 88332811 FANCA_00466 - NM_000135.2:c.4240_4241del chr16 88332801 88332802 FANCA_00311 - NM_000135.2:c.4249C>G chr16 88332628 88332636 FANCA_00314 - NM_000135.2:c.4261-19_4261-12del chr16 88332618 88332619 FANCA_00467 - NM_000135.2:c.4261-2A>G chr16 88332473 88332611 FANCA_00312 - NM_000135.2:c.4267_4368+36del chr16 88332602 88332603 FANCA_00315 - NM_000135.2:c.4275delT chrX 14643161 14643162 FANCB_00007 - NM_001018113.1:c.128T>C chrX 14643094 14643095 FANCB_00008 - NM_001018113.1:c.195dupT chrX 14642460 14642461 FANCB_00003 - NM_001018113.1:c.829dupT chrX 14642340 14642341 FANCB_00012 - NM_001018113.1:c.949C>T chrX 14637078 14637079 FANCB_00010 - NM_001018113.1:c.986T>C chrX 14636961 14636962 FANCB_00009 - NM_001018113.1:c.1103C>A chrX 14628278 14628279 FANCB_00011 - NM_001018113.1:c.1496+5G>A chrX 14622893 14622894 FANCB_00002 - NM_001018113.1:c.1668delT chrX 14622704 14622706 FANCB_00001 - NM_001018113.1:c.1856_1857insT chrX 14621750 14621754 FANCB_00004 - NM_001018113.1:c.2172_2175delAACA chrX 14621676 14621677 FANCB_00006 - NM_001018113.1:c.2249G>T chrX 14621673 14621677 FANCB_00005 - NM_001018113.1:c.2249_2252delGAAG chr9 95089268 95091128 FANCC_00002 - NM_000136.2:c.1-?_250+?del chr9 95091091 95091092 FANCC_00001 - NM_000136.2:c.37C>T chr9 95091063 95091064 FANCC_00040 - NM_000136.2:c.65G>A chr9 95091061 95091062 FANCC_00006 - NM_000136.2:c.67delG chr9 95091051 95091052 FANCC_00011 - NM_000136.2:c.77C>T chr9 95090962 95090963 FANCC_00024 - NM_000136.2:c.165+1G>T chr9 95082485 95082580 FANCC_00025 - NM_000136.2:c.251-?_345+?del chr9 95013969 95013975 FANCC_00026 - NM_000136.2:c.355_360delTCTCATinsA chr9 95013969 95013974 FANCC_00035 - NM_000136.2:c.356_360del chr9 95013952 95013954 FANCC_00037 - NM_000136.2:c.376_377del chr9 95013874 95013875 FANCC_00027 - NM_000136.2:c.455dupA chr9 95013869 95013870 FANCC_00007 - NM_000136.2:c.456+4A>T chr9 95012946 95012948 FANCC_00029 - NM_000136.2:c.489_490delGA chr9 95012916 95012917 FANCC_00010 - NM_000136.2:c.520C>T chr9 95012914 95012915 FANCC_00028 - NM_000136.2:c.521+1G>A chr9 94991892 94991893 FANCC_00003 - NM_000136.2:c.553C>T chr9 94991783 94991784 FANCC_00041 - NM_000136.2:c.662delA chr9 94977181 94977182 FANCC_00031 - NM_000136.2:c.843+1G>A chr9 94968418 94968419 FANCC_00043 - NM_000136.2:c.844-1G>C chr9 94966922 94966923 FANCC_00044 - NM_000136.2:c.996G>A chr9 94966921 94966922 FANCC_00032 - NM_000136.2:c.996+1G>A chr9 94953420 94953421 FANCC_00051 - NM_000136.2:c.1208G>A chr9 94953344 94953347 FANCC_00052 - NM_000136.2:c.1282_1284delTTC chr9 94949042 94949043 FANCC_00053 - NM_000136.2:c.1393C>T chr9 94949018 94949019 FANCC_00054 - NM_000136.2:c.1417C>T chr9 94948941 94948942 FANCC_00004 - NM_000136.2:c.1494T>G chr9 94943670 94943671 FANCC_00009 - NM_000136.2:c.1550dupA chr9 94943621 94943623 FANCC_00055 - NM_000136.2:c.1598_1599insAG chr9 94943578 94943579 FANCC_00005 - NM_000136.2:c.1642C>T chr9 94943559 94943560 FANCC_00008 - NM_000136.2:c.1661T>C chr13 31798286 31798287 FANCD1_00027 + NM_000059.3:c.475G>A chr13 31798750 31798751 FANCD1_00010 + NM_000059.3:c.631+1G>A chr13 31798751 31798752 FANCD1_00002 + NM_000059.3:c.631+2T>G chr13 31801605 31801607 FANCD1_00012 + NM_000059.3:c.658_659delGT chr13 31804925 31804929 FANCD1_00028 + NM_000059.3:c.1311_1314delAGAT chr13 31805427 31805428 FANCD1_00029 + NM_000059.3:c.1813dupA chr13 31809079 31809080 FANCD1_00015 + NM_000059.3:c.2588dupA chr13 31809390 31809392 FANCD1_00030 + NM_000059.3:c.2899_2900delCT chr13 31809755 31809756 FANCD1_00031 + NM_000059.3:c.3264dupT chr13 31810413 31810414 FANCD1_00006 + NM_000059.3:c.3922G>T chr13 31810963 31810967 FANCD1_00032 + NM_000059.3:c.4472_4475delTGAA chr13 31811139 31811140 FANCD1_00017 + NM_000059.3:c.4648G>T chr13 31811427 31811431 FANCD1_00013 + NM_000059.3:c.4936_4939delGAAA chr13 31811564 31811565 FANCD1_00007 + NM_000059.3:c.5073dupA chr13 31812100 31812102 FANCD1_00024 + NM_000059.3:c.5609_5610delTCinsAG chr13 31812173 31812174 FANCD1_00009 + NM_000059.3:c.5682C>G chr13 31812437 31812438 FANCD1_00014 + NM_000059.3:c.5946delT chr13 31812766 31812768 FANCD1_00033 + NM_000059.3:c.6275_6276delTT chr13 31816725 31816726 FANCD1_00034 + NM_000059.3:c.6873delT chr13 31819032 31819033 FANCD1_00023 + NM_000059.3:c.7007G>A chr13 31819032 31819033 FANCD1_00035 + NM_000059.3:c.7007G>C chr13 31828591 31828593 FANCD1_00021 + NM_000059.3:c.7463_7464insAT chr13 31828657 31828658 FANCD1_00018 + NM_000059.3:c.7529T>C chr13 31834731 31834732 FANCD1_00004 + NM_000059.3:c.7878G>C chr13 31835525 31835526 FANCD1_00025 + NM_000059.3:c.8187G>T chr13 31835557 31835558 FANCD1_00011 + NM_000059.3:c.8219T>A chr13 31842696 31842697 FANCD1_00036 + NM_000059.3:c.8487+3A>G chr13 31843091 31843092 FANCD1_00020 + NM_000059.3:c.8488-1G>A chr13 31843108 31843109 FANCD1_00026 + NM_000059.3:c.8504C>A chr13 31852221 31852222 FANCD1_00005 + NM_000059.3:c.9196C>T chr13 31852232 31852233 FANCD1_00003 + NM_000059.3:c.9207T>A chr13 31870321 31870322 FANCD1_00022 + NM_000059.3:c.9672dupA chr13 31870323 31870324 FANCD1_00037 + NM_000059.3:c.9674dupA chr3 10045342 10045343 FANCD2_00021 + NM_001018115.1:c.2T>C chr3 10051150 10051151 FANCD2_00012 + NM_001018115.1:c.206-2A>T chr3 10051321 10051323 FANCD2_00017 + NM_001018115.1:c.274-57_274-56ins298 chr3 10051480 10051481 FANCD2_00001 + NM_001018115.1:c.376A>G chr3 10056525 10056526 FANCD2_00026 + NM_001018115.1:c.692T>G chr3 10058185 10058186 FANCD2_00027 + NM_001018115.1:c.696-121C>G chr3 10058304 10058305 FANCD2_00028 + NM_001018115.1:c.696-2A>T chr3 10058367 10058368 FANCD2_00029 + NM_001018115.1:c.757C>T chr3 10058392 10058393 FANCD2_00030 + NM_001018115.1:c.782A>T chr3 10059268 10059271 FANCD2_00031 + NM_001018115.1:c.810_812delGTC chr3 10059748 10059749 FANCD2_00003 + NM_001018115.1:c.904C>T chr3 10059802 10059803 FANCD2_00004 + NM_001018115.1:c.958C>T chr3 10060166 10060167 FANCD2_00032 + NM_001018115.1:c.990-1G>A chr3 10060269 10060270 FANCD2_00006 + NM_001018115.1:c.1092G>A chr3 10064642 10064644 FANCD2_00007 + NM_001018115.1:c.1321_1322delAG chr3 10064688 10064689 FANCD2_00008 + NM_001018115.1:c.1367T>G chr3 10064691 10064692 FANCD2_00009 + NM_001018115.1:c.1370T>C chr3 10065986 10066445 FANCD2_00005 + NM_001018115.1:c.1414-71_1545+256del459 chr3 10081023 10081024 FANCD2_00010 + NM_001018115.1:c.1948-16T>G chr3 10081033 10081034 FANCD2_00011 + NM_001018115.1:c.1948-6C>A chr3 10083910 10083911 FANCD2_00013 + NM_001018115.1:c.2404C>T chr3 10083950 10083951 FANCD2_00014 + NM_001018115.1:c.2444G>A chr3 10089991 10089992 FANCD2_00015 + NM_001018115.1:c.2661delA chr3 10090046 10090047 FANCD2_00016 + NM_001018115.1:c.2715+1G>A chr3 10091272 10091274 FANCD2_00019 + NM_001018115.1:c.2775_2776delCCinsTT chr3 10091332 10091333 FANCD2_00020 + NM_001018115.1:c.2835dupC chr3 10103934 10103938 FANCD2_00022 + NM_001018115.1:c.3453_3456delCAAA chr3 10105549 10105550 FANCD2_00023 + NM_001018115.1:c.3599delT chr3 10106997 10106998 FANCD2_00024 + NM_001018115.1:c.3706C>A chr3 10106998 10106999 FANCD2_00002 + NM_001018115.1:c.3707G>A chr3 10108889 10108890 FANCD2_00025 + NM_001018115.1:c.3803G>A chr6 35528308 35528309 FANCE_00029 + NM_021922.2:c.9A>C chr6 35528390 35528391 FANCE_00004 + NM_021922.2:c.91C>T chr6 35528548 35528549 FANCE_00008 + NM_021922.2:c.248+1G>A chr6 35528605 35528606 FANCE_00030 + NM_021922.2:c.248+58A>C chr6 35528658 35528659 FANCE_00031 + NM_021922.2:c.248+111C>T chr6 35531607 35531608 FANCE_00001 + NM_021922.2:c.355C>T chr6 35531673 35531674 FANCE_00002 + NM_021922.2:c.421C>T chr6 35531688 35531689 FANCE_00009 + NM_021922.2:c.436delG chr6 35531803 35531804 FANCE_00010 + NM_021922.2:c.551C>A chr6 35531863 35531864 FANCE_00027 + NM_021922.2:c.611C>T chr6 35532165 35532166 FANCE_00026 + NM_021922.2:c.855+58A>G chr6 35533240 35533241 FANCE_00025 + NM_021922.2:c.856-70G>A chr6 35533393 35533394 FANCE_00032 + NM_021922.2:c.900+39A>G chr6 35533967 35533968 FANCE_00023 + NM_021922.2:c.970-84T>C chr6 35534099 35534100 FANCE_00021 + NM_021922.2:c.1018G>C chr6 35534147 35534148 FANCE_00006 + NM_021922.2:c.1066A>G chr6 35534152 35534153 FANCE_00020 + NM_021922.2:c.1071C>T chr6 35534175 35534176 FANCE_00005 + NM_021922.2:c.1094G>A chr6 35534192 35534193 FANCE_00011 + NM_021922.2:c.1111C>T chr6 35535077 35535078 FANCE_00003 + NM_021922.2:c.1114-8G>A chr6 35535533 35535534 FANCE_00033 + NM_021922.2:c.1316+19G>A chr6 35538622 35538623 FANCE_00022 + NM_021922.2:c.1463C>G chr6 35538663 35538664 FANCE_00007 + NM_021922.2:c.1504G>A chr6 35541997 35541998 FANCE_00012 + NM_021922.2:c.1510-1G>A chr11 22603916 22603917 FANCF_00003 - NM_022725.3:c.16C>T chr11 22603907 22603909 FANCF_00008 - NM_022725.3:c.24_25insA chr11 22603848 22603849 FANCF_00013 - NM_022725.3:c.84delC chr11 22603739 22603740 FANCF_00006 - NM_022725.3:c.193C>T chr11 22603713 22603714 FANCF_00007 - NM_022725.3:c.219delG chr11 22603680 22603703 FANCF_00001 - NM_022725.3:c.230_252del23 chr11 22603605 22603606 FANCF_00005 - NM_022725.3:c.327C>G chr11 22603537 22603584 FANCF_00002 - NM_022725.3:c.349_395del47 chr11 22603481 22603495 FANCF_00009 - NM_022725.3:c.438_451del14 chr11 22603447 22603449 FANCF_00004 - NM_022725.3:c.484_485del chr11 22603436 22603437 FANCF_00010 - NM_022725.3:c.496C>T chr11 22603328 22603329 FANCF_00011 - NM_022725.3:c.604delC chr11 22603107 22603108 FANCF_00012 - NM_022725.3:c.825G>A chr11 22603038 22603046 FANCF_00014 - NM_022725.3:c.887_894del chr9 35069456 35069457 FANCG_00001 - NM_004629.1:c.65G>C chr9 35069212 35069214 FANCG_00034 - NM_004629.1:c.109_110del chr9 35069204 35069205 FANCG_00014 - NM_004629.1:c.118C>T chr9 35069166 35069167 FANCG_00041 - NM_004629.1:c.156dupG chr9 35069146 35069147 FANCG_00027 - NM_004629.1:c.175+1G>A chr9 35068696 35068697 FANCG_00030 - NM_004629.1:c.212T>C chr9 35068688 35068690 FANCG_00005 - NM_004629.1:c.219_220insT chr9 35068664 35068665 FANCG_00024 - NM_004629.1:c.244dupG chr9 35068636 35068638 FANCG_00044 - NM_004629.1:c.271_272del chr9 35068600 35068601 FANCG_00019 - NM_004629.1:c.307+1G>C chr9 35068334 35068335 FANCG_00015 - NM_004629.1:c.313G>T chr9 35068300 35068302 FANCG_00028 - NM_004629.1:c.346_347del chr9 35067341 35067342 FANCG_00016 - NM_004629.1:c.565G>T chr9 35067334 35067335 FANCG_00036 - NM_004629.1:c.572T>G chr9 35067322 35067325 FANCG_00007 - NM_004629.1:c.582_584delinsC chr9 35067286 35067287 FANCG_00045 - NM_004629.1:c.620delT chr9 35067263 35067270 FANCG_00037 - NM_004629.1:c.637_643delTACCGCC chr9 35067259 35067260 FANCG_00031 - NM_004629.1:c.646+1G>T chr9 35067092 35067093 FANCG_00029 - NM_004629.1:c.652C>T chr9 35066754 35066755 FANCG_00038 - NM_004629.1:c.890C>T chr9 35066736 35066737 FANCG_00002 - NM_004629.1:c.908T>C chr9 35066496 35066497 FANCG_00008 - NM_004629.1:c.1008dupA chr9 35066438 35066439 FANCG_00017 - NM_004629.1:c.1066C>T chr9 35066026 35066027 FANCG_00020 - NM_004629.1:c.1077-2A>G chr9 35065953 35065954 FANCG_00021 - NM_004629.1:c.1143+5G>A chr9 35065760 35065762 FANCG_00022 - NM_004629.1:c.1144-11_1144-10delinsGA chr9 35065751 35065752 FANCG_00025 - NM_004629.1:c.1144-1G>C chr9 35065702 35065713 FANCG_00046 - NM_004629.1:c.1182_1192delinsC chr9 35065702 35065712 FANCG_00006 - NM_004629.1:c.1183_1192del chr9 35065584 35065586 FANCG_00009 - NM_004629.1:c.1309_1310dupGA chr9 35065274 35065275 FANCG_00023 - NM_004629.1:c.1480+1G>C chr9 35065031 35065032 FANCG_00039 - NM_004629.1:c.1528C>T chr9 35065021 35065022 FANCG_00040 - NM_004629.1:c.1538G>A chr9 35064997 35064998 FANCG_00003 - NM_004629.1:c.1562G>A chr9 35064966 35064967 FANCG_00010 - NM_004629.1:c.1593delC chr9 35064923 35064924 FANCG_00026 - NM_004629.1:c.1636G>C chr9 35064518 35064529 FANCG_00042 - NM_004629.1:c.1637-38_1637-28del11 chr9 35064485 35064486 FANCG_00018 - NM_004629.1:c.1642C>T chr9 35064478 35064479 FANCG_00011 - NM_004629.1:c.1649delC chr9 35064412 35064413 FANCG_00033 - NM_004629.1:c.1715G>A chr9 35064378 35064379 FANCG_00032 - NM_004629.1:c.1749delA chr9 35064213 35064214 FANCG_00035 - NM_004629.1:c.1761-1G>C chr9 35064210 35064211 FANCG_00043 - NM_004629.1:c.1763C>T chr9 35064202 35064203 FANCG_00013 - NM_004629.1:c.1771dupC chr9 35064170 35064180 FANCG_00012 - NM_004629.1:c.1794_1803del10 chr15 87591883 87591884 FANCI_00001 + NM_001113378.1:c.2T>C chr15 87612743 87612744 FANCI_00002 + NM_001113378.1:c.866T>C chr15 87621096 87621097 FANCI_00003 + NM_001113378.1:c.1264G>C chr15 87634465 87634466 FANCI_00004 + NM_001113378.1:c.1840C>T chr15 87637254 87637255 FANCI_00005 + NM_001113378.1:c.2248T>C chr15 87639201 87639202 FANCI_00006 + NM_001113378.1:c.2509G>T chr15 87639264 87639265 FANCI_00007 + NM_001113378.1:c.2572C>T chr15 87645679 87645680 FANCI_00017 + NM_001113378.1:c.3006+3A>G chr15 87648150 87648151 FANCI_00018 + NM_001113378.1:c.3058+1G>A chr15 87650153 87650154 FANCI_00019 + NM_001113378.1:c.3350-88A>G chr15 87650328 87650347 FANCI_00010 + NM_001113378.1:c.3437_3455del chr15 87650328 87650347 FANCI_00009 + NM_001113378.1:c.3437_3455del19 chr15 87651859 87651860 FANCI_00011 + NM_001113378.1:c.3604G>C chr15 87651877 87651879 FANCI_00012 + NM_001113378.1:c.3622_3623delCT chr15 87659552 87659553 FANCI_00014 + NM_001113378.1:c.3853C>T chr15 87659553 87659554 FANCI_00015 + NM_001113378.1:c.3854G>A chr15 87659594 87659595 FANCI_00016 + NM_001113378.1:c.3895C>T chr15 87659600 87659601 FANCI_00013 + NM_001113378.1:c.3901dupG chr17 57291933 57291934 FANCJ_00004 - NM_032043.1:c.205+5G>T chr17 57240776 57240777 FANCJ_00010 - NM_032043.1:c.751C>T chr17 57240762 57240763 FANCJ_00011 - NM_032043.1:c.765G>T chr17 57233490 57233491 FANCJ_00001 - NM_032043.1:c.1045G>C chr17 57231396 57231397 FANCJ_00012 - NM_032043.1:c.1186C>G chr17 57213645 57213646 FANCJ_00002 - NM_032043.1:c.1629-498A>T chr17 57208699 57208700 FANCJ_00003 - NM_032043.1:c.1941G>C chr17 57176712 57176713 FANCJ_00005 - NM_032043.1:c.2119C>T chr17 57176575 57176577 FANCJ_00006 - NM_032043.1:c.2255_2256delAA chr17 57148193 57148194 FANCJ_00007 - NM_032043.1:c.2392C>T chr17 57148185 57148186 FANCJ_00008 - NM_032043.1:c.2400C>G chr17 57148091 57148092 FANCJ_00009 - NM_032043.1:c.2492+2dupT chr2 58301741 58301748 FANCL_00001 - NM_018062.3:c.822-15_822-9delins177 chr14 44712017 44712018 FANCM_00001 + NM_020937.2:c.2171C>A chr14 44717906 44720460 FANCM_00002 + NM_020937.2:c.4222+1978_4300del chr16 23554972 23554973 FANCN_00003 - NM_024675.3:c.395delT chr16 23554609 23554611 FANCN_00005 - NM_024675.3:c.757_758delCT chr16 23553714 23553715 FANCN_00015 - NM_024675.3:c.1653T>A chr16 23548718 23548719 FANCN_00007 - NM_024675.3:c.2257C>T chr16 23548581 23548583 FANCN_00009 - NM_024675.3:c.2393_2394insCT chr16 23548090 23548091 FANCN_00011 - NM_024675.3:c.2521delA chr16 23541824 23541825 FANCN_00013 - NM_024675.3:c.2962C>T chr16 23540178 23540179 FANCN_00004 - NM_024675.3:c.3113+5G>C chr16 23532910 23532911 FANCN_00014 - NM_024675.3:c.3116delA chr16 23526737 23526742 FANCN_00006 - NM_024675.3:c.3294_3298delGACGA chr16 23526712 23526713 FANCN_00012 - NM_024675.3:c.3323delA chr16 23526681 23526682 FANCN_00010 - NM_024675.3:c.3350+4A>G chr16 23522292 23522293 FANCN_00016 - NM_024675.3:c.3549C>A chr16 23522292 23522293 FANCN_00008 - NM_024675.3:c.3549C>G chr15 40438532 40438533 CAPN3_00177 + CAPN3:c.-763C>G chr15 40438576 40438577 CAPN3_00176 + CAPN3:c.-719A>T chr15 40438743 40438744 CAPN3_00262 + CAPN3:c.-552G>A chr15 40438887 40438888 CAPN3_00049 + CAPN3:c.-408T>C chr15 40438973 40438974 CAPN3_00175 + CAPN3:c.-322A>C chr15 40439191 40439192 CAPN3_00171 + CAPN3:c.-104G>C chr15 40439302 40439303 CAPN3_00332 + CAPN3:c.8C>A chr15 40439303 40439304 CAPN3_00050 + CAPN3:c.9C>T chr15 40439304 40439305 CAPN3_00051 + CAPN3:c.10G>A chr15 40439313 40439318 CAPN3_00020 + CAPN3:c.19_23del chr15 40439337 40439338 CAPN3_00016 + CAPN3:c.43delG chr15 40439354 40439355 CAPN3_00052 + CAPN3:c.60delA chr15 40439356 40439357 CAPN3_00265 + CAPN3:c.62G>A chr15 40439371 40439372 CAPN3_00053 + CAPN3:c.77C>T chr15 40439390 40439391 CAPN3_00061 + CAPN3:c.96T>C chr15 40439394 40439395 CAPN3_00165 + CAPN3:c.100delG chr15 40439427 40439428 CAPN3_00167 + CAPN3:c.133G>A chr15 40439434 40439437 CAPN3_00193 + CAPN3:c.140_142del chr15 40439437 40439438 CAPN3_00201 + CAPN3:c.143G>A chr15 40439439 40439440 CAPN3_00263 + CAPN3:c.145C>T chr15 40439440 40439441 CAPN3_00190 + CAPN3:c.146G>A chr15 40439443 40439444 CAPN3_00303 + CAPN3:c.149A>G chr15 40439457 40439458 CAPN3_00239 + CAPN3:c.163G>A chr15 40439487 40439488 CAPN3_00412 + CAPN3:c.193C>G chr15 40439500 40439501 CAPN3_00312 + CAPN3:c.206T>C chr15 40439518 40439519 CAPN3_00371 + CAPN3:c.224A>G chr15 40439519 40439520 CAPN3_00054 + CAPN3:c.225dupT chr15 40439523 40439524 CAPN3_00056 + CAPN3:c.229G>A chr15 40439534 40439535 CAPN3_00429 + CAPN3:c.240C>G chr15 40439539 40439540 CAPN3_00143 + CAPN3:c.245C>T chr15 40439540 40439541 CAPN3_00379 + CAPN3:c.246G>A chr15 40439543 40439548 CAPN3_00192 + CAPN3:c.249_253del chr15 40439551 40439552 CAPN3_00021 + CAPN3:c.257C>T chr15 40439552 40439553 CAPN3_00380 + CAPN3:c.258dupT chr15 40439553 40439554 CAPN3_00219 + CAPN3:c.259C>G chr15 40439554 40439555 CAPN3_00370 + CAPN3:c.260dupT chr15 40439554 40439560 CAPN3_00144 + CAPN3:c.260_265delinsGA chr15 40439571 40439595 CAPN3_00057 + CAPN3:c.277_300del chr15 40439580 40439581 CAPN3_00420 + CAPN3:c.286delC chr15 40439585 40439586 CAPN3_00264 + CAPN3:c.291C>A chr15 40439586 40439587 CAPN3_00240 + CAPN3:c.292G>A chr15 40439596 40439597 CAPN3_00317 + CAPN3:c.302G>A chr15 40439598 40439599 CAPN3_00220 + CAPN3:c.304C>T chr15 40439602 40439603 CAPN3_00221 + CAPN3:c.308C>T chr15 40439603 40439604 CAPN3_00402 + CAPN3:c.309G>A chr15 40439604 40439605 CAPN3_00122 + CAPN3:c.309+1G>T chr15 40444072 40475086 CAPN3_00295 + CAPN3:c.309+4469_1116-1204del chr15 40463972 40473831 CAPN3_00173 + CAPN3:c.310-?_1115+?del chr15 40463980 40463981 CAPN3_00058 + CAPN3:c.318C>T chr15 40463981 40463982 CAPN3_00059 + CAPN3:c.319G>A chr15 40463989 40463991 CAPN3_00266 + CAPN3:c.327_328del chr15 40463989 40463991 CAPN3_00440 + CAPN3:c.327_328dup chr15 40463990 40463991 CAPN3_00001 + CAPN3:c.328C>T chr15 40463994 40463995 CAPN3_00318 + CAPN3:c.332T>C chr15 40464014 40464015 CAPN3_00060 + CAPN3:c.352A>G chr15 40464020 40464021 CAPN3_00319 + CAPN3:c.358G>A chr15 40464025 40464026 CAPN3_00401 + CAPN3:c.363C>T chr15 40465604 40465605 CAPN3_00174 + CAPN3:c.380-52T>G chr15 40465629 40465630 CAPN3_00339 + CAPN3:c.380-27C>T chr15 40465654 40465655 CAPN3_00423 + CAPN3:c.380-2A>C chr15 40465666 40465667 CAPN3_00267 + CAPN3:c.390G>C chr15 40465674 40465675 CAPN3_00222 + CAPN3:c.398C>T chr15 40465675 40465676 CAPN3_00392 + CAPN3:c.399A>G chr15 40465678 40465679 CAPN3_00022 + CAPN3:c.402delC chr15 40465685 40465686 CAPN3_00063 + CAPN3:c.409T>C chr15 40465689 40465690 CAPN3_00124 + CAPN3:c.413T>C chr15 40465692 40465693 CAPN3_00320 + CAPN3:c.416C>T chr15 40465694 40465695 CAPN3_00064 + CAPN3:c.418dupC chr15 40465700 40465701 CAPN3_00065 + CAPN3:c.424C>T chr15 40465716 40465717 CAPN3_00142 + CAPN3:c.440G>A chr15 40465716 40465717 CAPN3_00149 + CAPN3:c.440G>C chr15 40465753 40465754 CAPN3_00241 + CAPN3:c.477C>T chr15 40465754 40465755 CAPN3_00268 + CAPN3:c.478G>C chr15 40465755 40465756 CAPN3_00321 + CAPN3:c.479C>A chr15 40465755 40465756 CAPN3_00135 + CAPN3:c.479C>G chr15 40465759 40465760 CAPN3_00382 + CAPN3:c.483delG chr15 40465760 40465761 CAPN3_00066 + CAPN3:c.484A>C chr15 40465771 40465772 CAPN3_00170 + CAPN3:c.495C>G chr15 40465771 40465772 CAPN3_00067 + CAPN3:c.495C>T chr15 40465772 40465773 CAPN3_00139 + CAPN3:c.496delC chr15 40465774 40465775 CAPN3_00068 + CAPN3:c.498G>A chr15 40465775 40465776 CAPN3_00223 + CAPN3:c.498+1G>A chr15 40465809 40465810 CAPN3_00242 + CAPN3:c.498+35G>T chr15 40467221 40467222 CAPN3_00333 + CAPN3:c.499-21G>C chr15 40467225 40467226 CAPN3_00243 + CAPN3:c.499-17G>A chr15 40467241 40467242 CAPN3_00373 + CAPN3:c.499-1G>A chr15 40467248 40467249 CAPN3_00184 + CAPN3:c.505C>G chr15 40467248 40467249 CAPN3_00353 + CAPN3:c.505C>T chr15 40467252 40467253 CAPN3_00439 + CAPN3:c.509A>G chr15 40467252 40467253 CAPN3_00145 + CAPN3:c.509dupA chr15 40467253 40467254 CAPN3_00354 + CAPN3:c.510T>G chr15 40467276 40467277 CAPN3_00386 + CAPN3:c.533T>C chr15 40467278 40467279 CAPN3_00428 + CAPN3:c.535G>C chr15 40467282 40467283 CAPN3_00259 + CAPN3:c.539A>C chr15 40467288 40467289 CAPN3_00002 + CAPN3:c.545T>A chr15 40467291 40467292 CAPN3_00224 + CAPN3:c.548C>G chr15 40467291 40467292 CAPN3_00069 + CAPN3:c.548C>T chr15 40467293 40467294 CAPN3_00010 + CAPN3:c.550delA chr15 40467294 40467295 CAPN3_00030 + CAPN3:c.551C>T chr15 40467308 40467309 CAPN3_00120 + CAPN3:c.565C>G chr15 40467309 40467310 CAPN3_00071 + CAPN3:c.566T>C chr15 40467318 40467319 CAPN3_00260 + CAPN3:c.575C>T chr15 40467324 40467325 CAPN3_00322 + CAPN3:c.581C>G chr15 40467333 40467334 CAPN3_00226 + CAPN3:c.590G>A chr15 40467333 40467334 CAPN3_00323 + CAPN3:c.590G>T chr15 40467336 40467337 CAPN3_00383 + CAPN3:c.593A>G chr15 40467338 40467339 CAPN3_00438 + CAPN3:c.595G>C chr15 40467341 40467356 CAPN3_00025 + CAPN3:c.598_612del chr15 40467344 40467345 CAPN3_00269 + CAPN3:c.601T>A chr15 40467349 40467350 CAPN3_00238 + CAPN3:c.606T>C chr15 40467353 40467354 CAPN3_00408 + CAPN3:c.610C>G chr15 40467359 40467360 CAPN3_00270 + CAPN3:c.616delG chr15 40467359 40467360 CAPN3_00403 + CAPN3:c.616G>A chr15 40467363 40467364 CAPN3_00227 + CAPN3:c.620A>C chr15 40467374 40467375 CAPN3_00146 + CAPN3:c.631A>G chr15 40467376 40467377 CAPN3_00178 + CAPN3:c.632+1G>A chr15 40467376 40467377 CAPN3_00324 + CAPN3:c.632+1G>C chr15 40467378 40467379 CAPN3_00126 + CAPN3:c.632+3A>G chr15 40467379 40467380 CAPN3_00325 + CAPN3:c.632+4A>G chr15 40467779 40472212 CAPN3_00073 + CAPN3:c.632+404_1029+?del5328 chr15 40468417 40468418 CAPN3_00437 + CAPN3:c.633G>C chr15 40468417 40468418 CAPN3_00228 + CAPN3:c.633G>T chr15 40468421 40468422 CAPN3_00338 + CAPN3:c.637C>T chr15 40468422 40468423 CAPN3_00326 + CAPN3:c.638A>G chr15 40468424 40468425 CAPN3_00074 + CAPN3:c.640G>A chr15 40468427 40468428 CAPN3_00044 + CAPN3:c.643T>C chr15 40468427 40468448 CAPN3_00075 + CAPN3:c.643_663del chr15 40468433 40468434 CAPN3_00076 + CAPN3:c.649G>A chr15 40468446 40468447 CAPN3_00421 + CAPN3:c.662G>T chr15 40468448 40468449 CAPN3_00027 + CAPN3:c.664G>A chr15 40468458 40468459 CAPN3_00229 + CAPN3:c.674C>G chr15 40468460 40468461 CAPN3_00078 + CAPN3:c.676G>A chr15 40468473 40468474 CAPN3_00230 + CAPN3:c.689A>G chr15 40468479 40468480 CAPN3_00080 + CAPN3:c.695C>T chr15 40468481 40468482 CAPN3_00160 + CAPN3:c.697G>C chr15 40468482 40468483 CAPN3_00150 + CAPN3:c.698G>T chr15 40468485 40468486 CAPN3_00003 + CAPN3:c.701G>A chr15 40468487 40468488 CAPN3_00327 + CAPN3:c.703delG chr15 40468490 40468491 CAPN3_00082 + CAPN3:c.706G>A chr15 40468501 40468502 CAPN3_00029 + CAPN3:c.717delT chr15 40468501 40468502 CAPN3_00271 + CAPN3:c.717dupT chr15 40468508 40468509 CAPN3_00272 + CAPN3:c.724dupA chr15 40468523 40468524 CAPN3_00231 + CAPN3:c.739G>A chr15 40468527 40468528 CAPN3_00147 + CAPN3:c.743T>G chr15 40468531 40468532 CAPN3_00409 + CAPN3:c.747C>G chr15 40468539 40468540 CAPN3_00194 + CAPN3:c.755T>A chr15 40468539 40468540 CAPN3_00233 + CAPN3:c.755T>C chr15 40468539 40468540 CAPN3_00164 + CAPN3:c.755T>G chr15 40468543 40468546 CAPN3_00055 + CAPN3:c.759_761del chr15 40468544 40468545 CAPN3_00400 + CAPN3:c.760A>G chr15 40468547 40468548 CAPN3_00328 + CAPN3:c.763G>C chr15 40468553 40468554 CAPN3_00329 + CAPN3:c.769G>T chr15 40468563 40468564 CAPN3_00330 + CAPN3:c.779C>T chr15 40468572 40468573 CAPN3_00273 + CAPN3:c.788G>A chr15 40468575 40468576 CAPN3_00375 + CAPN3:c.791G>A chr15 40468582 40468583 CAPN3_00244 + CAPN3:c.798T>C chr15 40468586 40468587 CAPN3_00026 + CAPN3:c.801+1G>A chr15 40469433 40469434 CAPN3_00203 + CAPN3:c.802-9G>A chr15 40469457 40469458 CAPN3_00393 + CAPN3:c.817A>G chr15 40469488 40469489 CAPN3_00390 + CAPN3:c.848T>C chr15 40469505 40469506 CAPN3_00172 + CAPN3:c.865C>T chr15 40469523 40469527 CAPN3_00234 + CAPN3:c.883_886delinsCTT chr15 40469527 40469528 CAPN3_00083 + CAPN3:c.887delA chr15 40469538 40469539 CAPN3_00331 + CAPN3:c.898C>T chr15 40469585 40469586 CAPN3_00005 + CAPN3:c.945delG chr15 40469590 40469591 CAPN3_00245 + CAPN3:c.945+5G>A chr15 40469599 40469600 CAPN3_00246 + CAPN3:c.945+14C>T chr15 40469641 40469642 CAPN3_00247 + CAPN3:c.945+56C>T chr15 40469676 40469677 CAPN3_00248 + CAPN3:c.945+91C>T chr15 40472126 40472127 CAPN3_00274 + CAPN3:c.946-2A>G chr15 40472127 40472128 CAPN3_00017 + CAPN3:c.946-1G>A chr15 40472138 40472139 CAPN3_00031 + CAPN3:c.956C>T chr15 40472140 40472141 CAPN3_00377 + CAPN3:c.958G>T chr15 40472146 40472147 CAPN3_00235 + CAPN3:c.964T>C chr15 40472148 40472149 CAPN3_00306 + CAPN3:c.966T>A chr15 40472149 40472150 CAPN3_00236 + CAPN3:c.967G>T chr15 40472166 40472167 CAPN3_00396 + CAPN3:c.984C>A chr15 40472166 40472167 CAPN3_00086 + CAPN3:c.984C>T chr15 40472167 40472168 CAPN3_00275 + CAPN3:c.985G>A chr15 40472180 40472181 CAPN3_00394 + CAPN3:c.998G>A chr15 40472182 40472183 CAPN3_00195 + CAPN3:c.1000C>T chr15 40472183 40472184 CAPN3_00436 + CAPN3:c.1001A>T chr15 40472183 40472184 CAPN3_00196 + CAPN3:c.1001dupA chr15 40472184 40472185 CAPN3_00032 + CAPN3:c.1002C>G chr15 40472188 40472189 CAPN3_00033 + CAPN3:c.1006T>A chr15 40472212 40472213 CAPN3_00137 + CAPN3:c.1029+1G>T chr15 40472214 40472215 CAPN3_00225 + CAPN3:c.1029+3A>G chr15 40472409 40472410 CAPN3_00340 + CAPN3:c.1029+198C>T chr15 40473749 40473750 CAPN3_00180 + CAPN3:c.1034C>T chr15 40473758 40473759 CAPN3_00199 + CAPN3:c.1043delG chr15 40473773 40473774 CAPN3_00197 + CAPN3:c.1058T>C chr15 40473776 40473777 CAPN3_00198 + CAPN3:c.1061T>C chr15 40473776 40473777 CAPN3_00006 + CAPN3:c.1061T>G chr15 40473778 40473779 CAPN3_00372 + CAPN3:c.1063C>G chr15 40473778 40473779 CAPN3_00136 + CAPN3:c.1063C>T chr15 40473784 40473785 CAPN3_00276 + CAPN3:c.1069C>T chr15 40473785 40473786 CAPN3_00385 + CAPN3:c.1070G>A chr15 40473791 40473792 CAPN3_00128 + CAPN3:c.1076C>T chr15 40473794 40473795 CAPN3_00007 + CAPN3:c.1079G>A chr15 40473795 40473796 CAPN3_00035 + CAPN3:c.1080G>C chr15 40473814 40473815 CAPN3_00277 + CAPN3:c.1099G>A chr15 40473821 40473822 CAPN3_00387 + CAPN3:c.1106G>A chr15 40473835 40473836 CAPN3_00336 + CAPN3:c.1115+5G>A chr15 40473835 40473836 CAPN3_00156 + CAPN3:c.1115+5G>T chr15 40476288 40476289 CAPN3_00191 + CAPN3:c.1116-1G>A chr15 40476329 40476330 CAPN3_00278 + CAPN3:c.1156C>T chr15 40476364 40476365 CAPN3_00297 + CAPN3:c.1191C>G chr15 40476365 40476366 CAPN3_00430 + CAPN3:c.1192T>C chr15 40476366 40476367 CAPN3_00179 + CAPN3:c.1193G>C chr15 40476372 40476373 CAPN3_00413 + CAPN3:c.1193+6T>A chr15 40478955 40478956 CAPN3_00087 + CAPN3:c.1194-26C>G chr15 40478972 40478973 CAPN3_00088 + CAPN3:c.1194-9A>G chr15 40478989 40478990 CAPN3_00298 + CAPN3:c.1202A>G chr15 40479037 40479038 CAPN3_00279 + CAPN3:c.1250C>T chr15 40479043 40479044 CAPN3_00435 + CAPN3:c.1256A>G chr15 40479044 40479045 CAPN3_00280 + CAPN3:c.1257T>G chr15 40479046 40479047 CAPN3_00299 + CAPN3:c.1259C>A chr15 40479050 40479051 CAPN3_00089 + CAPN3:c.1263G>A chr15 40479073 40479074 CAPN3_00281 + CAPN3:c.1286G>A chr15 40479077 40479078 CAPN3_00249 + CAPN3:c.1290A>G chr15 40479078 40479079 CAPN3_00115 + CAPN3:c.1291G>A chr15 40479079 40479080 CAPN3_00090 + CAPN3:c.1292dupT chr15 40479085 40479087 CAPN3_00388 + CAPN3:c.1298_1299delTG chr15 40479088 40479089 CAPN3_00376 + CAPN3:c.1301A>T chr15 40479089 40479090 CAPN3_00357 + CAPN3:c.1302C>T chr15 40479090 40479091 CAPN3_00134 + CAPN3:c.1303G>A chr15 40479096 40479097 CAPN3_00414 + CAPN3:c.1309C>G chr15 40479096 40479097 CAPN3_00091 + CAPN3:c.1309C>T chr15 40479099 40479100 CAPN3_00410 + CAPN3:c.1312T>C chr15 40479105 40479106 CAPN3_00036 + CAPN3:c.1318C>T chr15 40479106 40479107 CAPN3_00161 + CAPN3:c.1319G>A chr15 40479106 40479110 CAPN3_00092 + CAPN3:c.1319_1322del chr15 40479109 40479110 CAPN3_00157 + CAPN3:c.1322delG chr15 40479109 40479110 CAPN3_00093 + CAPN3:c.1322G>A chr15 40479115 40479116 CAPN3_00351 + CAPN3:c.1328C>T chr15 40479120 40479121 CAPN3_00094 + CAPN3:c.1333G>A chr15 40479123 40479124 CAPN3_00355 + CAPN3:c.1336G>A chr15 40479126 40479127 CAPN3_00282 + CAPN3:c.1339T>C chr15 40479129 40479130 CAPN3_00008 + CAPN3:c.1342C>G chr15 40479129 40479130 CAPN3_00095 + CAPN3:c.1342C>T chr15 40479130 40479131 CAPN3_00096 + CAPN3:c.1343G>A chr15 40479132 40479133 CAPN3_00158 + CAPN3:c.1345A>C chr15 40479141 40479142 CAPN3_00153 + CAPN3:c.1354G>C chr15 40481124 40481125 CAPN3_00434 + CAPN3:c.1355-6G>A chr15 40481124 40481125 CAPN3_00341 + CAPN3:c.1355-6G>C chr15 40481129 40481130 CAPN3_00283 + CAPN3:c.1355-1G>C chr15 40481136 40481137 CAPN3_00301 + CAPN3:c.1361T>C chr15 40481148 40481149 CAPN3_00097 + CAPN3:c.1373delC chr15 40481156 40481157 CAPN3_00141 + CAPN3:c.1381C>T chr15 40481160 40481161 CAPN3_00261 + CAPN3:c.1385T>G chr15 40481176 40481179 CAPN3_00200 + CAPN3:c.1401_1403del chr15 40481210 40481211 CAPN3_00098 + CAPN3:c.1435A>G chr15 40481223 40481224 CAPN3_00202 + CAPN3:c.1448C>A chr15 40481225 40481226 CAPN3_00302 + CAPN3:c.1450C>A chr15 40481231 40481232 CAPN3_00037 + CAPN3:c.1456C>G chr15 40481240 40481241 CAPN3_00038 + CAPN3:c.1465C>T chr15 40481241 40481242 CAPN3_00018 + CAPN3:c.1466G>A chr15 40481243 40481244 CAPN3_00009 + CAPN3:c.1468C>T chr15 40481244 40481245 CAPN3_00034 + CAPN3:c.1469G>A chr15 40481252 40481253 CAPN3_00204 + CAPN3:c.1477C>G chr15 40481252 40481253 CAPN3_00070 + CAPN3:c.1477C>T chr15 40481261 40481262 CAPN3_00039 + CAPN3:c.1486G>A chr15 40481280 40481281 CAPN3_00391 + CAPN3:c.1505T>C chr15 40481299 40481300 CAPN3_00132 + CAPN3:c.1524G>A chr15 40481300 40481301 CAPN3_00284 + CAPN3:c.1524+1G>C chr15 40481305 40481306 CAPN3_00099 + CAPN3:c.1524+6C>T chr15 40481346 40481347 CAPN3_00358 + CAPN3:c.1524+47G>A chr15 40481380 40481381 CAPN3_00250 + CAPN3:c.1524+81C>T chr15 40481428 40481429 CAPN3_00359 + CAPN3:c.1524+129C>T chr15 40481757 40481758 CAPN3_00343 + CAPN3:c.1536+133T>C chr15 40482235 40482236 CAPN3_00258 + CAPN3:c.1537-48T>C chr15 40482243 40482244 CAPN3_00378 + CAPN3:c.1537-40C>G chr15 40482250 40482251 CAPN3_00342 + CAPN3:c.1537-33G>A chr15 40482282 40482283 CAPN3_00304 + CAPN3:c.1537-1G>A chr15 40482288 40482289 CAPN3_00251 + CAPN3:c.1542C>T chr15 40482312 40482313 CAPN3_00356 + CAPN3:c.1566G>A chr15 40482313 40482314 CAPN3_00117 + CAPN3:c.1567G>A chr15 40482320 40482321 CAPN3_00285 + CAPN3:c.1574T>C chr15 40482356 40482357 CAPN3_00305 + CAPN3:c.1610A>G chr15 40482357 40482358 CAPN3_00041 + CAPN3:c.1611C>A chr15 40482367 40482368 CAPN3_00129 + CAPN3:c.1621C>T chr15 40482368 40482369 CAPN3_00024 + CAPN3:c.1622G>A chr15 40482387 40482388 CAPN3_00232 + CAPN3:c.1641C>A chr15 40482403 40482404 CAPN3_00138 + CAPN3:c.1657G>A chr15 40482408 40482409 CAPN3_00415 + CAPN3:c.1662C>G chr15 40482409 40482410 CAPN3_00286 + CAPN3:c.1663G>A chr15 40482413 40482414 CAPN3_00307 + CAPN3:c.1667T>C chr15 40482414 40482415 CAPN3_00101 + CAPN3:c.1668C>T chr15 40482439 40482440 CAPN3_00389 + CAPN3:c.1693delC chr15 40482440 40482441 CAPN3_00404 + CAPN3:c.1694A>C chr15 40482445 40482446 CAPN3_00042 + CAPN3:c.1699G>T chr15 40482452 40482453 CAPN3_00205 + CAPN3:c.1706T>C chr15 40482457 40482458 CAPN3_00416 + CAPN3:c.1711delC chr15 40482460 40482461 CAPN3_00043 + CAPN3:c.1714C>T chr15 40482461 40482462 CAPN3_00011 + CAPN3:c.1715G>A chr15 40482461 40482462 CAPN3_00206 + CAPN3:c.1715G>C chr15 40482468 40482469 CAPN3_00168 + CAPN3:c.1722delC chr15 40482488 40482489 CAPN3_00155 + CAPN3:c.1742C>G chr15 40482489 40482491 CAPN3_00102 + CAPN3:c.1743_1744del chr15 40482492 40482493 CAPN3_00207 + CAPN3:c.1745+1G>A chr15 40482495 40482499 CAPN3_00411 + CAPN3:c.1745+4_1745+7del chr15 40482496 40482497 CAPN3_00335 + CAPN3:c.1745+5G>A chr15 40482496 40482497 CAPN3_00121 + CAPN3:c.1745+5G>C chr15 40483166 40483167 CAPN3_00257 + CAPN3:c.1746-64C>T chr15 40483210 40483211 CAPN3_00140 + CAPN3:c.1746-20C>G chr15 40483289 40483291 CAPN3_00252 + CAPN3:c.1782+23_1782+24insAGAG chr15 40484338 40484339 CAPN3_00405 + CAPN3:c.1782+1072G>C chr15 40485352 40485353 CAPN3_00344 + CAPN3:c.1783-63C>G chr15 40485356 40485357 CAPN3_00345 + CAPN3:c.1783-59C>T chr15 40485410 40485417 CAPN3_00287 + CAPN3:c.1783-5_1784del chr15 40485420 40485424 CAPN3_00048 + CAPN3:c.1788_1791del chr15 40485420 40485426 CAPN3_00169 + CAPN3:c.1788_1793del chr15 40485424 40485428 CAPN3_00163 + CAPN3:c.1792_1795del chr15 40485427 40485428 CAPN3_00045 + CAPN3:c.1795dupA chr15 40485434 40485435 CAPN3_00308 + CAPN3:c.1800+2T>C chr15 40485453 40485454 CAPN3_00360 + CAPN3:c.1800+21C>T chr15 40487649 40487650 CAPN3_00181 + CAPN3:c.1801-51G>A chr15 40487710 40487712 CAPN3_00395 + CAPN3:c.1811_1812del chr15 40487716 40487717 CAPN3_00040 + CAPN3:c.1817C>T chr15 40487722 40487723 CAPN3_00417 + CAPN3:c.1823G>A chr15 40487725 40487726 CAPN3_00346 + CAPN3:c.1826C>A chr15 40487737 40487738 CAPN3_00004 + CAPN3:c.1838delA chr15 40487764 40487765 CAPN3_00237 + CAPN3:c.1865A>C chr15 40487764 40487766 CAPN3_00103 + CAPN3:c.1865_1866del chr15 40487767 40487777 CAPN3_00208 + CAPN3:c.1868_1877del chr15 40487771 40487772 CAPN3_00046 + CAPN3:c.1872C>T chr15 40487796 40487797 CAPN3_00433 + CAPN3:c.1897C>T chr15 40487809 40487810 CAPN3_00309 + CAPN3:c.1910delC chr15 40487812 40487813 CAPN3_00023 + CAPN3:c.1913A>C chr15 40487843 40487844 CAPN3_00253 + CAPN3:c.1914+30G>A chr15 40488794 40488800 CAPN3_00209 + CAPN3:c.1917_1922del chr15 40488816 40488817 CAPN3_00418 + CAPN3:c.1939G>T chr15 40488848 40488851 CAPN3_00398 + CAPN3:c.1971_1973del chr15 40488856 40488857 CAPN3_00310 + CAPN3:c.1979A>G chr15 40488858 40488859 CAPN3_00104 + CAPN3:c.1981delA chr15 40488858 40488862 CAPN3_00062 + CAPN3:c.1981_1984delATAG chr15 40488860 40488861 CAPN3_00105 + CAPN3:c.1983delA chr15 40488861 40488862 CAPN3_00210 + CAPN3:c.1984G>T chr15 40488870 40488871 CAPN3_00106 + CAPN3:c.1992+1G>T chr15 40488969 40488970 CAPN3_00361 + CAPN3:c.1992+100C>T chr15 40489271 40489274 CAPN3_00254 + CAPN3:c.1993-5_1993-3delCTC chr15 40489275 40489276 CAPN3_00288 + CAPN3:c.1993-1G>A chr15 40489275 40489276 CAPN3_00072 + CAPN3:c.1993-1G>T chr15 40489282 40489283 CAPN3_00152 + CAPN3:c.1999dupG chr15 40489288 40489289 CAPN3_00289 + CAPN3:c.2005T>A chr15 40489302 40489303 CAPN3_00107 + CAPN3:c.2019C>G chr15 40489306 40489309 CAPN3_00211 + CAPN3:c.2023_2025del chr15 40489319 40489321 CAPN3_00290 + CAPN3:c.2036_2037del chr15 40489334 40489335 CAPN3_00311 + CAPN3:c.2050+1delG chr15 40489334 40489335 CAPN3_00154 + CAPN3:c.2050+1G>A chr15 40489362 40489363 CAPN3_00432 + CAPN3:c.2050+29G>A chr15 40489369 40489370 CAPN3_00362 + CAPN3:c.2050+36G>A chr15 40489438 40489440 CAPN3_00012 + CAPN3:c.2069_2070del chr15 40489440 40489450 CAPN3_00406 + CAPN3:c.2071_2080del chr15 40489446 40489447 CAPN3_00313 + CAPN3:c.2077A>C chr15 40489461 40489462 CAPN3_00291 + CAPN3:c.2092C>T chr15 40489462 40489463 CAPN3_00077 + CAPN3:c.2093G>C chr15 40489474 40489475 CAPN3_00441 + CAPN3:c.2105C>A chr15 40489474 40489475 CAPN3_00047 + CAPN3:c.2105C>T chr15 40489482 40489483 CAPN3_00108 + CAPN3:c.2113G>C chr15 40489483 40489484 CAPN3_00109 + CAPN3:c.2114A>G chr15 40489485 40489487 CAPN3_00127 + CAPN3:c.2115+1_2115+2dup chr15 40489488 40489489 CAPN3_00363 + CAPN3:c.2115+4T>A chr15 40489530 40489531 CAPN3_00255 + CAPN3:c.2115+46G>A chr15 40489918 40489919 CAPN3_00162 + CAPN3:c.2117C>A chr15 40489921 40489922 CAPN3_00118 + CAPN3:c.2120A>G chr15 40489935 40489936 CAPN3_00130 + CAPN3:c.2134C>T chr15 40489949 40489950 CAPN3_00296 + CAPN3:c.2148G>T chr15 40489978 40489994 CAPN3_00292 + CAPN3:c.2177_2184+8del chr15 40489983 40489984 CAPN3_00133 + CAPN3:c.2182C>T chr15 40489985 40489986 CAPN3_00212 + CAPN3:c.2184G>A chr15 40489988 40489989 CAPN3_00334 + CAPN3:c.2184+3G>A chr15 40490061 40490062 CAPN3_00300 + CAPN3:c.2185-16A>G chr15 40490065 40490087 CAPN3_00079 + CAPN3:c.2185-12_2194del chr15 40490075 40490076 CAPN3_00084 + CAPN3:c.2185-2A>G chr15 40490082 40490089 CAPN3_00374 + CAPN3:c.2190_2196del chr15 40490084 40490085 CAPN3_00081 + CAPN3:c.2192T>C chr15 40490099 40490101 CAPN3_00213 + CAPN3:c.2207_2208del chr15 40490104 40490105 CAPN3_00214 + CAPN3:c.2212C>T chr15 40490119 40490123 CAPN3_00364 + CAPN3:c.2227_2230dup chr15 40490122 40490123 CAPN3_00019 + CAPN3:c.2230A>G chr15 40490123 40490124 CAPN3_00397 + CAPN3:c.2231G>C chr15 40490127 40490128 CAPN3_00314 + CAPN3:c.2235C>G chr15 40490127 40490128 CAPN3_00365 + CAPN3:c.2235C>T chr15 40490134 40490135 CAPN3_00123 + CAPN3:c.2242C>T chr15 40490135 40490136 CAPN3_00028 + CAPN3:c.2243G>A chr15 40490137 40490138 CAPN3_00337 + CAPN3:c.2245A>C chr15 40490149 40490150 CAPN3_00215 + CAPN3:c.2257delinsAA chr15 40490149 40490150 CAPN3_00166 + CAPN3:c.2257G>A chr15 40490156 40490157 CAPN3_00293 + CAPN3:c.2263+1G>C chr15 40490157 40490158 CAPN3_00110 + CAPN3:c.2263+2T>A chr15 40490378 40490379 CAPN3_00131 + CAPN3:c.2269C>G chr15 40490372 40490373 CAPN3_00384 + CAPN3:c.2264-1G>C chr15 40490388 40490389 CAPN3_00399 + CAPN3:c.2279dupA chr15 40490397 40490398 CAPN3_00119 + CAPN3:c.2288A>G chr15 40490401 40490402 CAPN3_00256 + CAPN3:c.2292C>T chr15 40490404 40490407 CAPN3_00148 + CAPN3:c.2295_2297del chr15 40490415 40490416 CAPN3_00013 + CAPN3:c.2306G>A chr15 40490415 40490416 CAPN3_00369 + CAPN3:c.2306G>C chr15 40490423 40490427 CAPN3_00014 + CAPN3:c.2314_2317del chr15 40490426 40490431 CAPN3_00085 + CAPN3:c.2317_2321delinsT chr15 40490427 40490431 CAPN3_00315 + CAPN3:c.2318_2321dup chr15 40490428 40490429 CAPN3_00111 + CAPN3:c.2319dupA chr15 40490429 40490430 CAPN3_00112 + CAPN3:c.2320C>G chr15 40490439 40490440 CAPN3_00216 + CAPN3:c.2330T>C chr15 40490441 40490442 CAPN3_00366 + CAPN3:c.2332G>A chr15 40490444 40490445 CAPN3_00217 + CAPN3:c.2335T>A chr15 40490447 40490448 CAPN3_00159 + CAPN3:c.2338G>C chr15 40490471 40490473 CAPN3_00015 + CAPN3:c.2362_2363delinsTCATCT chr15 40490480 40490481 CAPN3_00316 + CAPN3:c.2371G>A chr15 40490480 40490481 CAPN3_00424 + CAPN3:c.2371G>T chr15 40490485 40490486 CAPN3_00425 + CAPN3:c.2376G>A chr15 40490490 40490491 CAPN3_00426 + CAPN3:c.2380+1G>T chr15 40490491 40490492 CAPN3_00151 + CAPN3:c.2380+2T>G chr15 40490501 40490502 CAPN3_00113 + CAPN3:c.2380+12delA chr15 40490508 40490509 CAPN3_00350 + CAPN3:c.2380+19C>T chr15 40490509 40490510 CAPN3_00352 + CAPN3:c.2380+20dupT chr15 40490647 40490648 CAPN3_00182 + CAPN3:c.2381-129G>A chr15 40490697 40490698 CAPN3_00183 + CAPN3:c.2381-79T>C chr15 40490764 40490765 CAPN3_00367 + CAPN3:c.2381-12A>G chr15 40490785 40490786 CAPN3_00427 + CAPN3:c.2390A>C chr15 40490788 40490789 CAPN3_00114 + CAPN3:c.2393C>A chr15 40490815 40490816 CAPN3_00381 + CAPN3:c.2420T>C chr15 40490903 40490904 CAPN3_00368 + CAPN3:c.2439+69C>T chr15 40491191 40491192 CAPN3_00186 + CAPN3:c.2440-45delG chr15 40491191 40491192 CAPN3_00185 + CAPN3:c.2440-45dupG chr15 40491229 40491233 CAPN3_00218 + CAPN3:c.2440-7_2440-4del chr15 40491233 40491234 CAPN3_00294 + CAPN3:c.2440-3C>G chr15 40491238 40491239 CAPN3_00431 + CAPN3:c.2442G>A chr15 40491260 40491261 CAPN3_00125 + CAPN3:c.2464T>C chr15 40491396 40491397 CAPN3_00189 + CAPN3:c.*134C>T chr3 8750440 8750441 CAV3_00035 + CAV3:c.-122C>T chr3 8750525 8750526 CAV3_00050 + CAV3:c.-37G>A chr3 8750588 8750589 CAV3_00024 + CAV3:c.27C>T chr3 8750640 8750641 CAV3_00031 + CAV3:c.79C>G chr3 8750641 8750642 CAV3_00007 + CAV3:c.80G>A chr3 8750645 8750646 CAV3_00010 + CAV3:c.84C>A chr3 8750646 8750647 CAV3_00020 + CAV3:c.85C>A chr3 8750647 8750648 CAV3_00013 + CAV3:c.86C>T chr3 8750660 8750661 CAV3_00038 + CAV3:c.99C>G chr3 8750660 8750661 CAV3_00016 + CAV3:c.99C>T chr3 8750661 8750662 CAV3_00040 + CAV3:c.100G>A chr3 8750677 8750678 CAV3_00051 + CAV3:c.114+2T>C chr3 8750701 8750702 CAV3_00032 + CAV3:c.114+26G>A chr3 8750774 8750775 CAV3_00033 + CAV3:c.114+99T>C chr3 8750601 8750602 CAV3_00058 + CAV3:c.40G>C chr3 8762122 8762123 CAV3_00034 + CAV3:c.115-89G>T chr3 8762166 8762183 CAV3_00047 + CAV3:c.115-45_115-29del chr3 8762188 8762189 CAV3_00048 + CAV3:c.115-23G>C chr3 8762219 8762220 CAV3_00025 + CAV3:c.123T>C chr3 8762227 8762228 CAV3_00043 + CAV3:c.131T>A chr3 8762232 8762233 CAV3_00005 + CAV3:c.136G>A chr3 8762233 8762234 CAV3_00049 + CAV3:c.137C>A chr3 8762233 8762234 CAV3_00006 + CAV3:c.137C>T chr3 8762235 8762236 CAV3_00041 + CAV3:c.139G>A chr3 8762236 8762237 CAV3_00060 + CAV3:c.140A>C chr3 8762253 8762254 CAV3_00044 + CAV3:c.157A>G chr3 8762262 8762263 CAV3_00003 + CAV3:c.166G>A chr3 8762264 8762265 CAV3_00017 + CAV3:c.168C>A chr3 8762265 8762266 CAV3_00015 + CAV3:c.169G>A chr3 8762266 8762267 CAV3_00029 + CAV3:c.170T>G chr3 8762267 8762268 CAV3_00022 + CAV3:c.171G>A chr3 8762268 8762269 CAV3_00046 + CAV3:c.172T>C chr3 8762279 8762280 CAV3_00039 + CAV3:c.183C>A chr3 8762285 8762294 CAV3_00002 + CAV3:c.189_197del chr3 8762286 8762287 CAV3_00023 + CAV3:c.190A>C chr3 8762287 8762288 CAV3_00019 + CAV3:c.191C>G chr3 8762300 8762301 CAV3_00018 + CAV3:c.204C>A chr3 8762308 8762309 CAV3_00052 + CAV3:c.212G>A chr3 8762312 8762313 CAV3_00004 + CAV3:c.216C>G chr3 8762329 8762330 CAV3_00030 + CAV3:c.233C>T chr3 8762332 8762333 CAV3_00059 + CAV3:c.236T>G chr3 8762356 8762357 CAV3_00011 + CAV3:c.260T>C chr3 8762373 8762374 CAV3_00012 + CAV3:c.277G>A chr3 8762386 8762387 CAV3_00056 + CAV3:c.290T>G chr3 8762386 8762389 CAV3_00014 + CAV3:c.290_292del chr3 8762394 8762395 CAV3_00042 + CAV3:c.298A>T chr3 8762397 8762398 CAV3_00045 + CAV3:c.301T>C chr3 8762403 8762409 CAV3_00053 + CAV3:c.307_312del chr3 8762410 8762411 CAV3_00001 + CAV3:c.314C>T chr3 8762473 8762474 CAV3_00021 + CAV3:c.377G>A chr3 8762519 8762520 CAV3_00057 + CAV3:c.423C>G chr3 8763095 8763096 CAV3_00026 + CAV3:c.*543T>C chr3 8763197 8763198 CAV3_00008 + CAV3:c.*645A>T chr3 8763292 8763293 CAV3_00027 + CAV3:c.*740C>G chr3 8763335 8763336 CAV3_00028 + CAV3:c.*783A>G chr3 8763363 8763364 CAV3_00009 + CAV3:c.*811C>G chr3 8763484 8763485 CAV3_00036 + CAV3:c.*932T>A chr3 8763489 8763490 CAV3_00037 + CAV3:c.*937C>A chrX 33191323 33191324 DMD_00933 - DMD:c.-202238G>A chrX 33429802 33429804 DMD_01182 - DMD:c.-140132TA(8_11)CA(10_11) chrX 33117495 33117496 DMD_01882 - DMD:c.-128410A>C chrX 33117334 33117335 DMD_01386 - DMD:c.-128249G>T chrX 33117248 33117249 DMD_00379 - DMD:c.-128163A>G chrX 33116916 33116917 DMD_01387 - DMD:c.-127831delA chrX 33116895 33116896 DMD_01388 - DMD:c.-127810T>C chrX 33036038 33036039 DMD_00932 - DMD:c.-46953C>G chrX 33014567 33014568 DMD_00931 - DMD:c.-25482G>C chrX 30897637 30899693 DMD_01358 - DMD:c.-13496_31+1783del chrX 32997127 32997129 DMD_01177 - DMD:c.-8043(AC)16_30 chrX 30894694 30899693 DMD_01359 - DMD:c.-1443_31+4726delins12 chrX 32989892 32989893 DMD_01389 - DMD:c.-807A>T chrX 32989199 32989200 DMD_01390 - DMD:c.-114dupT chrX 32989113 32989115 DMD_00149 - DMD:c.-29_-28ins603 chrX 32989093 32989094 DMD_00369 - DMD:c.-8T>A chrX 32989077 32989078 DMD_00546 - DMD:c.9G>A chrX 32989075 32989076 DMD_00286 - DMD:c.11G>A chrX 32989071 32989072 DMD_01163 - DMD:c.15delA chrX 32989054 32989055 DMD_00025 - DMD:c.31+1G>T chrX 32989050 32989051 DMD_01689 - DMD:c.31+5G>C chrX 32989049 32989050 DMD_00555 - DMD:c.31+6T>C chrX 32980938 32980939 DMD_00930 - DMD:c.31+8117T>C chrX 32975819 32975820 DMD_00928 - DMD:c.31+13236T>C chrX 32975733 32975734 DMD_00788 - DMD:c.31+13322A>G chrX 32973539 32973541 DMD_01176 - DMD:c.31+15515(AC)8_24 chrX 32952108 32952109 DMD_00939 - DMD:c.31+36947G>A chrX 32928641 32928642 DMD_00927 - DMD:c.31+60414A>G chrX 32922189 32922190 DMD_00926 - DMD:c.31+66866A>G chrX 32912708 32912709 DMD_00925 - DMD:c.31+76347A>G chrX 32906517 32906518 DMD_01391 - DMD:c.31+82538G>A chrX 32767453 32938110 DMD_01357 - DMD:c.31+50946_93+30459dup chrX 32887402 32887403 DMD_00924 - DMD:c.32-89429G>C chrX 32864647 32864648 DMD_00923 - DMD:c.32-66674A>G chrX 32801110 32801111 DMD_00922 - DMD:c.32-3137T>A chrX 32798191 32798192 DMD_01392 - DMD:c.32-218C>T chrX 32798072 32798073 DMD_01393 - DMD:c.32-99A>T chrX 32798061 32798062 DMD_01394 - DMD:c.32-88dupC chrX 32798051 32798052 DMD_01395 - DMD:c.32-78G>T chrX 32797977 32797978 DMD_00612 - DMD:c.32-4T>A chrX 32797975 32797976 DMD_00291 - DMD:c.32-2A>T chrX 32797964 32797966 DMD_01228 - DMD:c.40_41delGA chrX 32797952 32797953 DMD_01631 - DMD:c.53delA chrX 32797951 32797952 DMD_00559 - DMD:c.54G>T chrX 32797947 32797948 DMD_00099 - DMD:c.58delA chrX 32797911 32797912 DMD_01630 - DMD:c.93+1G>T chrX 32797907 32797912 DMD_00122 - DMD:c.93+1_93+5del chrX 32797729 32797730 DMD_01396 - DMD:c.93+183A>G chrX 32797609 32797610 DMD_01397 - DMD:c.93+303T>A chrX 32792322 32792323 DMD_00634 - DMD:c.93+5590T>A chrX 32764323 32764324 DMD_00921 - DMD:c.93+33589G>T chrX 32752802 32752803 DMD_00920 - DMD:c.93+45110A>C chrX 32738026 32738027 DMD_01364 - DMD:c.93+59886C>T chrX 32737987 32737988 DMD_01365 - DMD:c.93+59925G>A chrX 32518135 32720811 DMD_01362 - DMD:c.93+77102_650-41069del chrX 32700986 32700987 DMD_00919 - DMD:c.94-73393A>G chrX 32695858 32695859 DMD_00918 - DMD:c.94-68265G>A chrX 32684597 32684598 DMD_00917 - DMD:c.94-57004T>C chrX 32542708 32653296 DMD_01363 - DMD:c.94-25702_649+44558del chrX 32627754 32627755 DMD_01398 - DMD:c.94-161dupT chrX 32627726 32627727 DMD_01399 - DMD:c.94-133G>A chrX 32627653 32627654 DMD_00772 - DMD:c.94-60G>T chrX 32627602 32627603 DMD_01021 - DMD:c.94-9dupT chrX 32627595 32627596 DMD_00575 - DMD:c.94-2A>G chrX 32627595 32627596 DMD_00331 - DMD:c.94-2A>T chrX 32627594 32627595 DMD_01725 - DMD:c.94-1G>A chrX 32627594 32627595 DMD_00088 - DMD:c.94-1G>C chrX 32627594 32627595 DMD_00027 - DMD:c.94-1G>T chrX 32627571 32627572 DMD_01674 - DMD:c.116dupA chrX 32627532 32627572 DMD_01826 - DMD:c.116_155del chrX 32627559 32627561 DMD_01203 - DMD:c.127_128dup chrX 32627554 32627555 DMD_01194 - DMD:c.133C>T chrX 32627550 32627551 DMD_01854 - DMD:c.137A>T chrX 32627535 32627536 DMD_01343 - DMD:c.152dupT chrX 32627526 32627527 DMD_00020 - DMD:c.161T>G chrX 32627524 32627525 DMD_01852 - DMD:c.163G>T chrX 32627512 32627514 DMD_00028 - DMD:c.174_175del chrX 32627510 32627511 DMD_00280 - DMD:c.177dupG chrX 32627509 32627510 DMD_00029 - DMD:c.178C>T chrX 32627509 32627510 DMD_00973 - DMD:c.178delC chrX 32627496 32627503 DMD_00184 - DMD:c.185_186+5del chrX 32627500 32627501 DMD_01678 - DMD:c.186+1G>A chrX 32627500 32627501 DMD_00730 - DMD:c.186+1G>C chrX 32627499 32627500 DMD_01264 - DMD:c.186+2T>C chrX 32627466 32627467 DMD_01009 - DMD:c.186+35A>T chrX 32627387 32627388 DMD_01032 - DMD:c.186+114delG chrX 32627258 32627259 DMD_01400 - DMD:c.186+243T>C chrX 32622654 32622655 DMD_01020 - DMD:c.187-21A>G chrX 32622635 32622636 DMD_00174 - DMD:c.187-2A>G chrX 32622634 32622635 DMD_01679 - DMD:c.187-1G>C chrX 32622628 32622629 DMD_01360 - DMD:c.192dupA chrX 32622627 32622628 DMD_01680 - DMD:c.193delG chrX 32622627 32622628 DMD_00090 - DMD:c.193G>T chrX 32622622 32622623 DMD_01107 - DMD:c.198delA chrX 32622622 32622623 DMD_00030 - DMD:c.198dupA chrX 32622621 32622622 DMD_00190 - DMD:c.199G>T chrX 32622620 32622621 DMD_01133 - DMD:c.200dupG chrX 32622575 32622576 DMD_00292 - DMD:c.245G>C chrX 32622569 32622570 DMD_01344 - DMD:c.251dupT chrX 32622567 32622568 DMD_00031 - DMD:c.253C>T chrX 32622553 32622554 DMD_00769 - DMD:c.264+3A>T chrX 32622551 32622552 DMD_01226 - DMD:c.264+5G>A chrX 32622551 32622552 DMD_01660 - DMD:c.264+5G>C chrX 32622551 32622552 DMD_01863 - DMD:c.264+5G>T chrX 32622195 32622196 DMD_01401 - DMD:c.264+361delC chrX 32622192 32622196 DMD_01402 - DMD:c.264+361_264+364dup chrX 32601623 32601624 DMD_01851 - DMD:c.265-463A>G chrX 32601162 32601163 DMD_01816 - DMD:c.265-2A>G chrX 32601153 32601154 DMD_00256 - DMD:c.272T>A chrX 32601145 32601146 DMD_00565 - DMD:c.280delA chrX 32601143 32601144 DMD_01345 - DMD:c.282dupT chrX 32601136 32601140 DMD_00443 - DMD:c.286_289del chrX 32601134 32601135 DMD_01299 - DMD:c.291delT chrX 32601112 32601113 DMD_00117 - DMD:c.313A>T chrX 32601110 32601111 DMD_01869 - DMD:c.315dupA chrX 32601108 32601109 DMD_01870 - DMD:c.317dupT chrX 32601071 32601072 DMD_00566 - DMD:c.354G>A chrX 32601070 32601071 DMD_00561 - DMD:c.355C>T chrX 32601067 32601068 DMD_01691 - DMD:c.357+1G>C chrX 32601066 32601067 DMD_01247 - DMD:c.357+2T>A chrX 32601026 32601027 DMD_00370 - DMD:c.357+42T>C chrX 32601025 32601026 DMD_00509 - DMD:c.357+43dupC chrX 32571975 32600441 DMD_00450 - DMD:c.357+628_649+15291delinsATG chrX 32548320 32595744 DMD_00452 - DMD:c.358-1330_649+38946del chrX 32594841 32594842 DMD_01404 - DMD:c.358-428C>T chrX 32594552 32594553 DMD_01405 - DMD:c.358-139G>A chrX 32594493 32594494 DMD_01406 - DMD:c.358-80T>G chrX 32594415 32594416 DMD_00527 - DMD:c.358-2A>G chrX 32594415 32594416 DMD_01078 - DMD:c.358-2A>T chrX 32594414 32594415 DMD_01106 - DMD:c.358-1G>A chrX 32594413 32594414 DMD_01112 - DMD:c.358delG chrX 32594410 32594411 DMD_01866 - DMD:c.361A>T chrX 32594406 32594408 DMD_00393 - DMD:c.364_365delinsT chrX 32594399 32594400 DMD_01692 - DMD:c.372delG chrX 32594394 32594395 DMD_00145 - DMD:c.377delA chrX 32594391 32594393 DMD_01736 - DMD:c.379_380del chrX 32594385 32594386 DMD_01381 - DMD:c.386delC chrX 32594374 32594375 DMD_00093 - DMD:c.397C>T chrX 32594362 32594363 DMD_00729 - DMD:c.409G>T chrX 32594352 32594353 DMD_00312 - DMD:c.419T>A chrX 32594342 32594343 DMD_01346 - DMD:c.429G>A chrX 32594340 32594341 DMD_01815 - DMD:c.431T>A chrX 32594338 32594339 DMD_00032 - DMD:c.433C>T chrX 32594338 32594339 DMD_00153 - DMD:c.433delC chrX 32594331 32594332 DMD_01695 - DMD:c.440C>A chrX 32594331 32594332 DMD_01635 - DMD:c.440C>G chrX 32594318 32594319 DMD_01755 - DMD:c.453T>A chrX 32594314 32594315 DMD_01696 - DMD:c.457dupC chrX 32594297 32594298 DMD_01382 - DMD:c.474C>G chrX 32594295 32594297 DMD_01698 - DMD:c.475_476del chrX 32594288 32594291 DMD_01738 - DMD:c.481_483del chrX 32594287 32594290 DMD_01208 - DMD:c.482_484del chrX 32594278 32594288 DMD_01197 - DMD:c.484_493delins500_510 chrX 32594284 32594285 DMD_01636 - DMD:c.487T>G chrX 32594283 32594284 DMD_01791 - DMD:c.488G>A chrX 32594277 32594278 DMD_00547 - DMD:c.494A>T chrX 32594275 32594276 DMD_01156 - DMD:c.496G>A chrX 32594268 32594269 DMD_00033 - DMD:c.503C>A chrX 32594260 32594261 DMD_00941 - DMD:c.511G>C chrX 32594256 32594257 DMD_00293 - DMD:c.515T>A chrX 32594240 32594241 DMD_00317 - DMD:c.530+1G>T chrX 32594229 32594231 DMD_00315 - DMD:c.530+11_530+12TA>AC chrX 32594222 32594223 DMD_00321 - DMD:c.530+19C>T chrX 32587394 32587395 DMD_01786 - DMD:c.531-10T>A chrX 32587400 32587401 DMD_00267 - DMD:c.531-16T>A chrX 32587350 32587351 DMD_00394 - DMD:c.565C>T chrX 32587347 32587348 DMD_01347 - DMD:c.568C>T chrX 32587343 32587344 DMD_00167 - DMD:c.572C>G chrX 32587335 32587336 DMD_00326 - DMD:c.580C>T chrX 32587332 32587333 DMD_00364 - DMD:c.583C>T chrX 32587319 32587320 DMD_01348 - DMD:c.596C>A chrX 32587300 32587301 DMD_01707 - DMD:c.615T>A chrX 32587299 32587300 DMD_01802 - DMD:c.616C>T chrX 32587290 32587291 DMD_01383 - DMD:c.625delA chrX 32587271 32587272 DMD_00246 - DMD:c.644dupC chrX 32587265 32587266 DMD_01150 - DMD:c.649+1G>T chrX 32587261 32587262 DMD_01134 - DMD:c.649+5G>A chrX 32587121 32587122 DMD_01407 - DMD:c.649+145T>C chrX 32241406 32571978 DMD_00454 - DMD:c.649+15289_3277-39del chrX 32567545 32567546 DMD_00916 - DMD:c.649+19721G>C chrX 32264817 32565903 DMD_00453 - DMD:c.649+21364_2623-1945del chrX 32326474 32560925 DMD_00456 - DMD:c.649+26342_1993-3367del chrX 32439013 32560905 DMD_00467 - DMD:c.649+26362_961-16088dup chrX 32545117 32545118 DMD_00915 - DMD:c.649+42149T>C chrX 32532482 32532484 DMD_00464 - DMD:c.649+54783_649+54784delinsCTC, t(X;21)(p21;p12) chrX 32531257 32531258 DMD_00914 - DMD:c.650-54191A>G chrX 32531077 32531078 DMD_00913 - DMD:c.650-54011T>C chrX 32518739 32518740 DMD_00912 - DMD:c.650-41673A>G chrX 32518206 32518207 DMD_00911 - DMD:c.650-41140G>C chrX 32517499 32517500 DMD_00910 - DMD:c.650-40433A>C chrX 32517408 32517409 DMD_00909 - DMD:c.650-40342C>T chrX 32400267 32512454 DMD_00458 - DMD:c.650-35387_1332-8041delinsGGCA chrX 32433605 32485787 DMD_00455 - DMD:c.650-8720_961-10680delinsAA chrX 32350909 32479818 DMD_00457 - DMD:c.650-2751_1812+394del chrX 32477440 32477441 DMD_01408 - DMD:c.650-374T>G chrX 32477135 32477140 DMD_01829 - DMD:c.650-73_650-69del chrX 32477120 32477121 DMD_00773 - DMD:c.650-54dupA chrX 32477060 32477082 DMD_00138 - DMD:c.650-15_656del chrX 32477047 32477048 DMD_01088 - DMD:c.669delA chrX 32477043 32477044 DMD_00332 - DMD:c.673A>T chrX 32477038 32477041 DMD_01740 - DMD:c.676_678del chrX 32477027 32477028 DMD_01713 - DMD:c.689delT chrX 32477025 32477026 DMD_00035 - DMD:c.691T>A chrX 32477025 32477026 DMD_01349 - DMD:c.691T>G chrX 32477022 32477023 DMD_01805 - DMD:c.694A>T chrX 32477018 32477020 DMD_01803 - DMD:c.697_698insGT chrX 32477015 32477016 DMD_01873 - DMD:c.701C>A chrX 32477007 32477008 DMD_00744 - DMD:c.709C>T chrX 32477004 32477005 DMD_00756 - DMD:c.712G>T chrX 32476996 32476997 DMD_01366 - DMD:c.720T>G chrX 32476995 32476996 DMD_00745 - DMD:c.721C>T chrX 32476992 32476993 DMD_00036 - DMD:c.724C>T chrX 32476981 32476982 DMD_01372 - DMD:c.735T>A chrX 32476971 32476972 DMD_00355 - DMD:c.745C>T chrX 32476968 32476969 DMD_00037 - DMD:c.748G>T chrX 32476962 32476963 DMD_01209 - DMD:c.754G>T chrX 32476945 32476946 DMD_00096 - DMD:c.771delA chrX 32476943 32476945 DMD_00133 - DMD:c.772_773del chrX 32476939 32476940 DMD_00124 - DMD:c.777delA chrX 32476933 32476934 DMD_00716 - DMD:c.783dupT chrX 32476925 32476927 DMD_00038 - DMD:c.790_791del chrX 32476917 32476918 DMD_01350 - DMD:c.799C>T chrX 32476914 32476915 DMD_00956 - DMD:c.802T>C chrX 32476905 32476906 DMD_00188 - DMD:c.811C>T chrX 32476887 32476888 DMD_01159 - DMD:c.829C>T chrX 32476885 32476886 DMD_00313 - DMD:c.831G>A chrX 32476884 32476885 DMD_00731 - DMD:c.831+1G>C chrX 32476737 32476738 DMD_01409 - DMD:c.831+148delC chrX 32476728 32476730 DMD_01410 - DMD:c.831+156_831+157dup chrX 32475908 32475909 DMD_01411 - DMD:c.832-137A>G chrX 32475825 32475826 DMD_01412 - DMD:c.832-54A>G chrX 32475788 32475790 DMD_00325 - DMD:c.832-18_832-17delinsGA chrX 32475787 32475788 DMD_01413 - DMD:c.832-16A>C chrX 32475786 32475787 DMD_00087 - DMD:c.832-15A>G chrX 32475768 32475769 DMD_00073 - DMD:c.835A>G chrX 32475766 32475767 DMD_01047 - DMD:c.837G>A chrX 32475720 32475721 DMD_01638 - DMD:c.883C>T chrX 32475716 32475717 DMD_01161 - DMD:c.887dupT chrX 32475706 32475707 DMD_00542 - DMD:c.897T>G chrX 32475700 32475701 DMD_00472 - DMD:c.903C>A chrX 32475700 32475701 DMD_01166 - DMD:c.903C>G chrX 32475696 32475697 DMD_01276 - DMD:c.907C>T chrX 32475647 32475648 DMD_00265 - DMD:c.956C>G chrX 32475593 32475594 DMD_01414 - DMD:c.960+50delG chrX 32475313 32475314 DMD_01415 - DMD:c.960+330G>A chrX 32475255 32475256 DMD_01416 - DMD:c.960+388G>A chrX 32475231 32475232 DMD_01417 - DMD:c.960+412C>T chrX 32463676 32463677 DMD_00908 - DMD:c.960+11967A>G chrX 32435889 32435890 DMD_00907 - DMD:c.961-12964C>T chrX 32428850 32428851 DMD_01367 - DMD:c.961-5925A>C chrX 32428756 32428757 DMD_00938 - DMD:c.961-5831C>T chrX 32423073 32423074 DMD_01418 - DMD:c.961-148C>T chrX 32423071 32423072 DMD_01419 - DMD:c.961-146A>G chrX 32423034 32423035 DMD_01420 - DMD:c.961-109A>G chrX 32422921 32422922 DMD_01726 - DMD:c.965T>A chrX 32422894 32422895 DMD_01306 - DMD:c.992delG chrX 32422888 32422889 DMD_01729 - DMD:c.998C>A chrX 32422865 32422866 DMD_01210 - DMD:c.1021dupC chrX 32422841 32422842 DMD_00080 - DMD:c.1045G>T chrX 32422829 32422830 DMD_01812 - DMD:c.1057T>C chrX 32422825 32422826 DMD_01878 - DMD:c.1061G>A chrX 32422824 32422825 DMD_00123 - DMD:c.1062G>A chrX 32422816 32422820 DMD_00395 - DMD:c.1067_1070delinsCTCTT chrX 32422799 32422800 DMD_00567 - DMD:c.1087C>T chrX 32422793 32422794 DMD_00610 - DMD:c.1093C>T chrX 32422791 32422792 DMD_01033 - DMD:c.1095A>C chrX 32422788 32422789 DMD_00396 - DMD:c.1098A>T chrX 32422769 32422770 DMD_01167 - DMD:c.1117G>T chrX 32422754 32422755 DMD_01639 - DMD:c.1132C>T chrX 32422735 32422736 DMD_00101 - DMD:c.1149+2T>C chrX 32422687 32422688 DMD_01303 - DMD:c.1149+50G>C chrX 32422461 32422465 DMD_01135 - DMD:c.1149+273_1149+276delinsATGTAAGTATTCC chrX 32422403 32422404 DMD_01421 - DMD:c.1150-317T>G chrX 32422340 32422341 DMD_01422 - DMD:c.1150-254dupA chrX 32422088 32422089 DMD_01658 - DMD:c.1150-2A>C chrX 32422087 32422088 DMD_01211 - DMD:c.1150-1G>T chrX 32422059 32422060 DMD_01239 - DMD:c.1177C>T chrX 32422036 32422044 DMD_01307 - DMD:c.1193_1200del chrX 32422001 32422002 DMD_01229 - DMD:c.1235delT chrX 32421998 32421999 DMD_00526 - DMD:c.1238C>A chrX 32421981 32421982 DMD_00974 - DMD:c.1255G>T chrX 32421975 32421976 DMD_00253 - DMD:c.1261C>T chrX 32421950 32421951 DMD_01308 - DMD:c.1286C>A chrX 32421944 32421945 DMD_01675 - DMD:c.1292G>A chrX 32421943 32421944 DMD_01769 - DMD:c.1293G>A chrX 32421942 32421943 DMD_01732 - DMD:c.1294dupG chrX 32421929 32421931 DMD_01309 - DMD:c.1306_1307dup chrX 32421913 32421914 DMD_01265 - DMD:c.1323delA chrX 32421913 32421914 DMD_00732 - DMD:c.1323dupA chrX 32421912 32421913 DMD_00365 - DMD:c.1324C>T chrX 32421904 32421905 DMD_01256 - DMD:c.1331+1G>A chrX 32421904 32421905 DMD_01676 - DMD:c.1331+1G>T chrX 32421879 32421880 DMD_01010 - DMD:c.1331+26A>G chrX 32421850 32421851 DMD_01423 - DMD:c.1331+55A>G chrX 32421778 32421779 DMD_01424 - DMD:c.1331+127G>A chrX 32421683 32421684 DMD_01425 - DMD:c.1331+222A>G chrX 32419533 32419535 DMD_00075 - DMD:c.1331+2371_1331+2372ins159 chrX 32404135 32404136 DMD_01273 - DMD:c.1332-11909C>G chrX 32399036 32399037 DMD_00905 - DMD:c.1332-6810C>T chrX 32392519 32392520 DMD_01426 - DMD:c.1332-293C>A chrX 32392512 32392513 DMD_01427 - DMD:c.1332-286T>C chrX 32392235 32392236 DMD_00371 - DMD:c.1332-9A>G chrX 32392224 32392225 DMD_00085 - DMD:c.1334T>G chrX 32392216 32392218 DMD_01266 - DMD:c.1341_1342del chrX 32392212 32392213 DMD_01277 - DMD:c.1346delT chrX 32392212 32392213 DMD_00010 - DMD:c.1346dupT chrX 32392201 32392202 DMD_01212 - DMD:c.1357C>T chrX 32392184 32392185 DMD_01792 - DMD:c.1374delA chrX 32392184 32392185 DMD_00109 - DMD:c.1374dupA chrX 32392170 32392171 DMD_00330 - DMD:c.1388G>A chrX 32392168 32392169 DMD_01089 - DMD:c.1390delC chrX 32392164 32392165 DMD_01793 - DMD:c.1394delC chrX 32392132 32392133 DMD_00116 - DMD:c.1426dupG chrX 32392132 32392133 DMD_01830 - DMD:c.1426G>T chrX 32392120 32392121 DMD_00040 - DMD:c.1438G>T chrX 32392093 32392094 DMD_00975 - DMD:c.1465C>T chrX 32392087 32392088 DMD_00082 - DMD:c.1471C>T chrX 32392084 32392085 DMD_00578 - DMD:c.1474C>T chrX 32392075 32392076 DMD_00781 - DMD:c.1482+1G>T chrX 32392074 32392075 DMD_01192 - DMD:c.1482+2T>A chrX 32391762 32391763 DMD_01428 - DMD:c.1482+314G>T chrX 32376188 32376189 DMD_00789 - DMD:c.1483-2539C>T chrX 32052030 32373846 DMD_00460 - DMD:c.1483-196_6290+13272del chrX 32373774 32373775 DMD_01429 - DMD:c.1483-125A>G chrX 32373772 32373773 DMD_00387 - DMD:c.1483-123G>T chrX 32373721 32373722 DMD_01049 - DMD:c.1483-72T>C chrX 32373716 32373717 DMD_01037 - DMD:c.1483-67A>T chrX 32373656 32373657 DMD_01121 - DMD:c.1483-7C>G chrX 32373643 32373644 DMD_00041 - DMD:c.1489C>T chrX 32373620 32373621 DMD_00613 - DMD:c.1512A>T chrX 32373619 32373620 DMD_00271 - DMD:c.1513G>C chrX 32373619 32373620 DMD_01370 - DMD:c.1513G>T chrX 32373613 32373614 DMD_00172 - DMD:c.1519delG chrX 32373602 32373606 DMD_00397 - DMD:c.1527_1530del chrX 32373596 32373600 DMD_00180 - DMD:c.1533_1536del chrX 32373592 32373593 DMD_00384 - DMD:c.1540dupG chrX 32373589 32373591 DMD_00119 - DMD:c.1542_1543insA chrX 32373588 32373589 DMD_01770 - DMD:c.1544dupT chrX 32373578 32373579 DMD_01122 - DMD:c.1554T>A chrX 32373577 32373578 DMD_00177 - DMD:c.1555G>T chrX 32373552 32373553 DMD_00942 - DMD:c.1580C>A chrX 32373538 32373539 DMD_00398 - DMD:c.1594C>T chrX 32373530 32373531 DMD_00042 - DMD:c.1602G>T chrX 32373529 32373530 DMD_00281 - DMD:c.1602+1G>A chrX 32373529 32373530 DMD_01850 - DMD:c.1602+1G>T chrX 32373505 32373506 DMD_00742 - DMD:c.1602+25T>A chrX 32373331 32373332 DMD_01430 - DMD:c.1602+199C>A chrX 32365987 32365988 DMD_00901 - DMD:c.1602+7543C>A chrX 32360417 32360418 DMD_00900 - DMD:c.1603-8798G>A chrX 32351977 32351978 DMD_01431 - DMD:c.1603-358G>T chrX 32351621 32351622 DMD_00351 - DMD:c.1603-2A>C chrX 32351620 32351621 DMD_00442 - DMD:c.1603-1G>A chrX 32351613 32351614 DMD_01241 - DMD:c.1609G>T chrX 32351607 32351608 DMD_00306 - DMD:c.1615C>T chrX 32351603 32351604 DMD_00976 - DMD:c.1619G>A chrX 32351589 32351590 DMD_00333 - DMD:c.1633A>T chrX 32351587 32351588 DMD_00319 - DMD:c.1635A>G chrX 32351585 32351586 DMD_01151 - DMD:c.1637G>A chrX 32351580 32351581 DMD_01838 - DMD:c.1642G>T chrX 32351567 32351569 DMD_01090 - DMD:c.1654_1655insAC chrX 32351559 32351560 DMD_00977 - DMD:c.1663C>T chrX 32351556 32351557 DMD_00601 - DMD:c.1666delG chrX 32351548 32351549 DMD_00386 - DMD:c.1674T>G chrX 32351540 32351541 DMD_00399 - DMD:c.1682G>A chrX 32351539 32351540 DMD_00733 - DMD:c.1683G>A chrX 32351538 32351539 DMD_01771 - DMD:c.1684delC chrX 32351538 32351539 DMD_01640 - DMD:c.1684dupC chrX 32351530 32351531 DMD_00614 - DMD:c.1692T>C chrX 32351523 32351524 DMD_01254 - DMD:c.1699G>T chrX 32351520 32351521 DMD_00602 - DMD:c.1702C>T chrX 32351467 32351468 DMD_00322 - DMD:c.1704+51T>C chrX 32351391 32351392 DMD_00774 - DMD:c.1724T>C chrX 32351389 32351390 DMD_01677 - DMD:c.1726delT chrX 32351379 32351381 DMD_01272 - DMD:c.1735_1736delGA chrX 32351353 32351354 DMD_00760 - DMD:c.1762delA chrX 32351332 32351333 DMD_00978 - DMD:c.1783G>T chrX 32351322 32351323 DMD_01184 - DMD:c.1793C>G chrX 32351303 32351304 DMD_00329 - DMD:c.1812delC chrX 32351302 32351303 DMD_01258 - DMD:c.1812+1G>A chrX 32350974 32350975 DMD_01432 - DMD:c.1812+329C>A chrX 32347186 32347187 DMD_00899 - DMD:c.1813-3532C>A chrX 32343876 32343877 DMD_01433 - DMD:c.1813-222G>A chrX 32343776 32343777 DMD_01434 - DMD:c.1813-122G>A chrX 32343650 32343651 DMD_01861 - DMD:c.1817T>G chrX 32343624 32343625 DMD_01123 - DMD:c.1843C>T chrX 32343606 32343608 DMD_00444 - DMD:c.1860_1861del chrX 32343602 32343603 DMD_00107 - DMD:c.1865C>G chrX 32343598 32343599 DMD_00943 - DMD:c.1869C>T chrX 32343592 32343596 DMD_00445 - DMD:c.1872_1875del chrX 32343594 32343595 DMD_00294 - DMD:c.1873C>T chrX 32343586 32343587 DMD_01641 - DMD:c.1881delT chrX 32343569 32343571 DMD_00102 - DMD:c.1897_1898insT chrX 32343539 32343540 DMD_01124 - DMD:c.1928G>A chrX 32343533 32343534 DMD_00098 - DMD:c.1934A>G chrX 32343522 32343523 DMD_01152 - DMD:c.1945delC chrX 32343515 32343516 DMD_00043 - DMD:c.1952G>A chrX 32343506 32343507 DMD_00979 - DMD:c.1961T>A chrX 32343504 32343507 DMD_01828 - DMD:c.1961_1963delinsAT chrX 32343493 32343494 DMD_00198 - DMD:c.1974delT chrX 32343492 32343493 DMD_00091 - DMD:c.1975G>T chrX 32343488 32343490 DMD_01642 - DMD:c.1978_1979del chrX 32343444 32343488 DMD_00400 - DMD:c.1980_1992+31del chrX 32343477 32343478 DMD_00980 - DMD:c.1990C>T chrX 32343474 32343475 DMD_01659 - DMD:c.1992+1G>T chrX 32343064 32343065 DMD_01435 - DMD:c.1992+411G>C chrX 32341674 32341675 DMD_01044 - DMD:c.1992+1801C>G chrX 32326922 32331595 DMD_00625 - DMD:c.1993-8487_1993-3815del, t(X;4)(p21;q31.22) chrX 32324503 32324504 DMD_00898 - DMD:c.1993-1396G>C chrX 32323222 32323223 DMD_01436 - DMD:c.1993-115G>C chrX 32323148 32323149 DMD_00944 - DMD:c.1993-41T>C chrX 32323135 32323136 DMD_01024 - DMD:c.1993-28C>G chrX 32323110 32323111 DMD_01240 - DMD:c.1993-3C>G chrX 32323083 32323084 DMD_00023 - DMD:c.2017C>T chrX 32323071 32323082 DMD_00728 - DMD:c.2019_2029dup chrX 32323040 32323041 DMD_00272 - DMD:c.2060C>T chrX 32323026 32323027 DMD_00347 - DMD:c.2074dupG chrX 32323021 32323022 DMD_00401 - DMD:c.2079dupG chrX 32323002 32323015 DMD_01754 - DMD:c.2086_2098del chrX 32323002 32323003 DMD_01643 - DMD:c.2098C>T chrX 32322996 32322997 DMD_00981 - DMD:c.2104G>T chrX 32322975 32322976 DMD_00734 - DMD:c.2125C>T chrX 32322972 32322973 DMD_00402 - DMD:c.2128A>T chrX 32322963 32322964 DMD_00446 - DMD:c.2137C>T chrX 32322931 32322932 DMD_00735 - DMD:c.2168+1G>C chrX 32322919 32322920 DMD_00743 - DMD:c.2168+13T>C chrX 32322741 32322742 DMD_01437 - DMD:c.2168+191G>C chrX 32322710 32322711 DMD_01438 - DMD:c.2168+222G>A chrX 32322654 32322655 DMD_01439 - DMD:c.2168+278A>G chrX 32322511 32322512 DMD_00786 - DMD:c.2168+421G>A chrX 32322043 32322044 DMD_00785 - DMD:c.2168+889G>A chrX 32321481 32321482 DMD_00897 - DMD:c.2168+1451C>T chrX 32321124 32321125 DMD_00896 - DMD:c.2168+1808T>C chrX 32321066 32321067 DMD_00895 - DMD:c.2168+1866G>A chrX 32319890 32319891 DMD_00893 - DMD:c.2168+3042C>T chrX 32317988 32317989 DMD_00892 - DMD:c.2168+4944G>A chrX 32296210 32296211 DMD_01440 - DMD:c.2169-306G>A chrX 32296108 32296109 DMD_01441 - DMD:c.2169-204T>C chrX 32296000 32296001 DMD_00323 - DMD:c.2169-96T>C chrX 32295905 32295909 DMD_01862 - DMD:c.2169-4_2169-1delinsCTTT chrX 32295897 32295898 DMD_01864 - DMD:c.2176G>T chrX 32295885 32295887 DMD_01259 - DMD:c.2187_2188del chrX 32295849 32295880 DMD_01091 - DMD:c.2194_2224del chrX 32295876 32295877 DMD_00106 - DMD:c.2197delA chrX 32295863 32295864 DMD_00518 - DMD:c.2210delG chrX 32295851 32295852 DMD_01153 - DMD:c.2222delT chrX 32295846 32295847 DMD_00534 - DMD:c.2227C>T chrX 32295842 32295844 DMD_00113 - DMD:c.2230_2231del chrX 32295837 32295838 DMD_00568 - DMD:c.2236G>T chrX 32295816 32295817 DMD_01879 - DMD:c.2257G>T chrX 32295782 32295810 DMD_00403 - DMD:c.2264_2291del chrX 32295803 32295804 DMD_00295 - DMD:c.2270C>G chrX 32295797 32295798 DMD_00366 - DMD:c.2276T>G chrX 32295791 32295795 DMD_01682 - DMD:c.2279_2282del chrX 32295792 32295793 DMD_00962 - DMD:c.2281G>T chrX 32295788 32295793 DMD_00111 - DMD:c.2281_2285del chrX 32295782 32295783 DMD_00358 - DMD:c.2291A>G chrX 32295779 32295780 DMD_00603 - DMD:c.2292+2T>C chrX 32292071 32292072 DMD_00890 - DMD:c.2292+3710C>T chrX 32291109 32291110 DMD_00889 - DMD:c.2292+4672A>T chrX 32291097 32291098 DMD_00888 - DMD:c.2292+4684C>A chrX 32279824 32279825 DMD_01442 - DMD:c.2293-209A>G chrX 32279616 32279617 DMD_00178 - DMD:c.2293-1G>T chrX 32279609 32279610 DMD_00404 - DMD:c.2299G>T chrX 32279606 32279607 DMD_00015 - DMD:c.2302C>T chrX 32279600 32279601 DMD_00044 - DMD:c.2308A>T chrX 32279594 32279595 DMD_00017 - DMD:c.2314G>T chrX 32279591 32279592 DMD_00950 - DMD:c.2317A>G chrX 32279580 32279582 DMD_00266 - DMD:c.2327_2328del chrX 32279530 32279582 DMD_00046 - DMD:c.2327_2378del chrX 32279555 32279556 DMD_01817 - DMD:c.2353C>T chrX 32279549 32279550 DMD_00016 - DMD:c.2359delC chrX 32279543 32279544 DMD_00569 - DMD:c.2365G>T chrX 32279540 32279541 DMD_00146 - DMD:c.2368C>T chrX 32279538 32279539 DMD_00757 - DMD:c.2370G>T chrX 32279530 32279531 DMD_00723 - DMD:c.2378A>G chrX 32279529 32279530 DMD_00405 - DMD:c.2379dupT chrX 32279525 32279526 DMD_00018 - DMD:c.2380+3A>C chrX 32279481 32279482 DMD_01003 - DMD:c.2380+47A>G chrX 32277989 32277990 DMD_00887 - DMD:c.2380+1539G>A chrX 32276525 32276526 DMD_00886 - DMD:c.2380+3003T>C chrX 32109920 32271884 DMD_00468 - DMD:c.2381-2592_5922+9953dup chrX 32269569 32269570 DMD_01443 - DMD:c.2381-278delA chrX 32269293 32269294 DMD_00328 - DMD:c.2381-2A>G chrX 32269281 32269282 DMD_00372 - DMD:c.2391T>G chrX 32269276 32269277 DMD_01444 - DMD:c.2396A>G chrX 32269265 32269266 DMD_00141 - DMD:c.2407C>T chrX 32269254 32269255 DMD_00741 - DMD:c.2418A>C chrX 32269253 32269254 DMD_00983 - DMD:c.2419C>T chrX 32269237 32269238 DMD_00984 - DMD:c.2435G>A chrX 32269236 32269237 DMD_01644 - DMD:c.2436dupG chrX 32269215 32269216 DMD_00528 - DMD:c.2457A>C chrX 32269212 32269216 DMD_01772 - DMD:c.2457_2460del chrX 32269206 32269214 DMD_01137 - DMD:c.2459_2466dup chrX 32269206 32269210 DMD_00179 - DMD:c.2463_2466del chrX 32269203 32269204 DMD_01071 - DMD:c.2469dupT chrX 32269197 32269198 DMD_00171 - DMD:c.2475G>A chrX 32269193 32269194 DMD_00982 - DMD:c.2479G>T chrX 32269187 32269188 DMD_01185 - DMD:c.2485C>T chrX 32269160 32269161 DMD_00103 - DMD:c.2512C>T chrX 32269151 32269152 DMD_01683 - DMD:c.2521C>T chrX 32269114 32269115 DMD_00390 - DMD:c.2558T>A chrX 32269070 32269072 DMD_01092 - DMD:c.2601_2602delAA chrX 32269070 32269071 DMD_01242 - DMD:c.2602A>G chrX 32269067 32269068 DMD_00139 - DMD:c.2605C>T chrX 32269058 32269059 DMD_01158 - DMD:c.2614dupA chrX 32269049 32269050 DMD_00406 - DMD:c.2622+1G>A chrX 32269049 32269050 DMD_01136 - DMD:c.2622+1G>C chrX 32269048 32269049 DMD_00562 - DMD:c.2622+2T>G chrX 32268992 32268993 DMD_01445 - DMD:c.2622+58delT chrX 32262883 32262884 DMD_01446 - DMD:c.2623-11C>G chrX 32262879 32262880 DMD_00278 - DMD:c.2623-7G>A chrX 32262874 32262875 DMD_00563 - DMD:c.2623-2A>G chrX 32262857 32262858 DMD_01684 - DMD:c.2638delC chrX 32262850 32262851 DMD_00761 - DMD:c.2645G>A chrX 32262845 32262846 DMD_01646 - DMD:c.2650C>T chrX 32262830 32262831 DMD_01251 - DMD:c.2665C>T chrX 32262826 32262827 DMD_00255 - DMD:c.2669T>G chrX 32262824 32262825 DMD_00158 - DMD:c.2671A>T chrX 32262821 32262822 DMD_00296 - DMD:c.2674delA chrX 32262794 32262795 DMD_01685 - DMD:c.2701G>T chrX 32262789 32262790 DMD_00739 - DMD:c.2706delA chrX 32262788 32262789 DMD_01252 - DMD:c.2707G>T chrX 32262783 32262784 DMD_01859 - DMD:c.2712dupC chrX 32262775 32262777 DMD_00047 - DMD:c.2719_2720insA chrX 32262758 32262759 DMD_00407 - DMD:c.2737delG chrX 32262740 32262741 DMD_01384 - DMD:c.2755A>T chrX 32262737 32262738 DMD_01832 - DMD:c.2758C>T chrX 32262734 32262735 DMD_01860 - DMD:c.2761delG chrX 32262733 32262734 DMD_00529 - DMD:c.2762T>C chrX 32262728 32262729 DMD_00515 - DMD:c.2767delT chrX 32262719 32262720 DMD_00143 - DMD:c.2776C>T chrX 32262707 32262709 DMD_01883 - DMD:c.2787_2788del chrX 32262707 32262708 DMD_01231 - DMD:c.2788A>T chrX 32262704 32262705 DMD_00003 - DMD:c.2791G>T chrX 32262700 32262701 DMD_01857 - DMD:c.2795T>C chrX 32262698 32262699 DMD_01645 - DMD:c.2797C>T chrX 32262691 32262692 DMD_00513 - DMD:c.2803+1G>A chrX 32262525 32262526 DMD_01447 - DMD:c.2803+167G>T chrX 32262440 32262441 DMD_01448 - DMD:c.2803+252G>T chrX 32251007 32251008 DMD_00885 - DMD:c.2804-925A>G chrX 32250084 32250085 DMD_00305 - DMD:c.2804-2A>C chrX 32250084 32250085 DMD_01686 - DMD:c.2804-2A>T chrX 32250083 32250084 DMD_01138 - DMD:c.2804-1G>A chrX 32250083 32250084 DMD_01125 - DMD:c.2804-1G>C chrX 32250083 32250084 DMD_01371 - DMD:c.2804-1G>T chrX 32250070 32250072 DMD_01773 - DMD:c.2815_2816del chrX 32250053 32250054 DMD_01774 - DMD:c.2833C>T chrX 32250050 32250051 DMD_01139 - DMD:c.2836G>T chrX 32250024 32250025 DMD_00985 - DMD:c.2862G>A chrX 32250020 32250021 DMD_01822 - DMD:c.2866C>T chrX 32250017 32250018 DMD_00274 - DMD:c.2869C>T chrX 32250013 32250014 DMD_01794 - DMD:c.2873C>G chrX 32249970 32249971 DMD_00148 - DMD:c.2916T>A chrX 32249952 32249954 DMD_01093 - DMD:c.2933_2934delGA chrX 32249937 32249938 DMD_00346 - DMD:c.2949G>C chrX 32249936 32249937 DMD_00391 - DMD:c.2949+1G>T chrX 32249883 32249892 DMD_00775 - DMD:c.2949+46_2949+54inv chrX 32246573 32246574 DMD_01118 - DMD:c.2950-90A>C chrX 32246480 32246506 DMD_00104 - DMD:c.2950-22_2953del chrX 32246479 32246480 DMD_01232 - DMD:c.2954T>A chrX 32246454 32246480 DMD_01227 - DMD:c.2954_2979del chrX 32246461 32246479 DMD_00260 - DMD:c.2955_2972delinsTT chrX 32246465 32246466 DMD_00409 - DMD:c.2968C>T chrX 32246462 32246463 DMD_00957 - DMD:c.2971G>C chrX 32246462 32246463 DMD_01876 - DMD:c.2971G>T chrX 32246459 32246460 DMD_01374 - DMD:c.2974C>T chrX 32246442 32246443 DMD_00254 - DMD:c.2991C>G chrX 32246412 32246413 DMD_01011 - DMD:c.3021G>A chrX 32246400 32246401 DMD_01688 - DMD:c.3033delC chrX 32246396 32246398 DMD_01213 - DMD:c.3036_3037delinsC chrX 32246386 32246397 DMD_00297 - DMD:c.3037_3047del chrX 32246379 32246380 DMD_00986 - DMD:c.3054T>G chrX 32246345 32246380 DMD_01855 - DMD:c.3054_3088del chrX 32246372 32246373 DMD_00353 - DMD:c.3061G>T chrX 32246347 32246348 DMD_01278 - DMD:c.3086G>A chrX 32246346 32246347 DMD_01243 - DMD:c.3087G>A chrX 32246311 32246314 DMD_00086 - DMD:c.3120_3122delinsCC chrX 32246312 32246313 DMD_00048 - DMD:c.3121C>T chrX 32246308 32246309 DMD_00262 - DMD:c.3125delA chrX 32246297 32246298 DMD_00987 - DMD:c.3136C>T chrX 32246286 32246287 DMD_00410 - DMD:c.3147delA chrX 32246285 32246287 DMD_01094 - DMD:c.3147_3148insT chrX 32246282 32246283 DMD_00318 - DMD:c.3151C>T chrX 32246276 32246277 DMD_01775 - DMD:c.3157delA chrX 32246155 32246156 DMD_01449 - DMD:c.3162+116G>C chrX 32246017 32246018 DMD_01450 - DMD:c.3162+254T>G chrX 32245961 32245962 DMD_01451 - DMD:c.3162+310delA chrX 32245927 32245928 DMD_01452 - DMD:c.3162+344delA chrX 32242746 32242747 DMD_01453 - DMD:c.3163-274G>T chrX 32242516 32242517 DMD_01294 - DMD:c.3163-44G>A chrX 32242447 32242448 DMD_00049 - DMD:c.3188G>A chrX 32242439 32242440 DMD_00334 - DMD:c.3196G>T chrX 32242434 32242435 DMD_01214 - DMD:c.3201delT chrX 32242434 32242435 DMD_00411 - DMD:c.3201dupT chrX 32242418 32242419 DMD_00988 - DMD:c.3217G>T chrX 32242415 32242416 DMD_00412 - DMD:c.3220G>T chrX 32242413 32242414 DMD_01004 - DMD:c.3222delA chrX 32242411 32242412 DMD_01311 - DMD:c.3224G>A chrX 32242391 32242392 DMD_00081 - DMD:c.3244G>T chrX 32242388 32242390 DMD_00413 - DMD:c.3246_3247insTins3238_3246 chrX 32242388 32242389 DMD_01095 - DMD:c.3247delA chrX 32242378 32242380 DMD_00736 - DMD:c.3256_3257delAA chrX 32242378 32242379 DMD_01690 - DMD:c.3257delA chrX 32242376 32242377 DMD_00097 - DMD:c.3259C>T chrX 32242368 32242370 DMD_00181 - DMD:c.3266_3267insC chrX 32242367 32242368 DMD_00989 - DMD:c.3268C>T chrX 32242361 32242362 DMD_00335 - DMD:c.3274A>T chrX 32242345 32242346 DMD_01454 - DMD:c.3276+14delA chrX 32242344 32242346 DMD_00373 - DMD:c.3276+14_3276+15del chrX 32241598 32241599 DMD_01455 - DMD:c.3277-231T>G chrX 32241397 32241398 DMD_01456 - DMD:c.3277-30C>T chrX 32241344 32241345 DMD_00616 - DMD:c.3300A>C chrX 32241340 32241341 DMD_00125 - DMD:c.3304C>T chrX 32241318 32241319 DMD_01820 - DMD:c.3326A>T chrX 32241318 32241319 DMD_01188 - DMD:c.3326delA chrX 32241316 32241317 DMD_00367 - DMD:c.3328G>T chrX 32241308 32241309 DMD_00105 - DMD:c.3336delG chrX 32241307 32241308 DMD_01633 - DMD:c.3337C>T chrX 32241294 32241298 DMD_00604 - DMD:c.3347_3350del chrX 32241293 32241294 DMD_00615 - DMD:c.3351T>G chrX 32241292 32241293 DMD_01757 - DMD:c.3352G>T chrX 32241280 32241282 DMD_00195 - DMD:c.3363_3364del chrX 32241252 32241253 DMD_01224 - DMD:c.3392T>C chrX 32241247 32241248 DMD_00935 - DMD:c.3397G>T chrX 32241238 32241239 DMD_01457 - DMD:c.3406A>T chrX 32241224 32241237 DMD_01140 - DMD:c.3408_3420del chrX 32241235 32241236 DMD_01304 - DMD:c.3409C>T chrX 32241231 32241232 DMD_01233 - DMD:c.3413G>A chrX 32241221 32241222 DMD_00617 - DMD:c.3423G>T chrX 32241217 32241218 DMD_00108 - DMD:c.3427C>T chrX 32241214 32241215 DMD_00414 - DMD:c.3430C>T chrX 32241211 32241212 DMD_01758 - DMD:c.3432+1G>A chrX 32241211 32241212 DMD_00553 - DMD:c.3432+1G>C chrX 32241211 32241212 DMD_00276 - DMD:c.3432+1G>T chrX 32241210 32241211 DMD_01849 - DMD:c.3432+2T>C chrX 32241209 32241210 DMD_01079 - DMD:c.3432+3A>G chrX 32239176 32239177 DMD_00519 - DMD:c.3432+2036A>G chrX 32238972 32238973 DMD_00094 - DMD:c.3432+2240A>G chrX 32232605 32232606 DMD_01312 - DMD:c.3433-8_c.3433delinsGTT chrX 32232604 32232611 DMD_01080 - DMD:c.3433-5_3434del chrX 32232605 32232606 DMD_01111 - DMD:c.3433delG chrX 32232567 32232575 DMD_00092 - DMD:c.3464_3471del chrX 32232569 32232570 DMD_00001 - DMD:c.3469G>T chrX 32232568 32232569 DMD_00193 - DMD:c.3470delA chrX 32232559 32232561 DMD_00135 - DMD:c.3478_3479del chrX 32232538 32232539 DMD_00990 - DMD:c.3500C>G chrX 32232537 32232539 DMD_01075 - DMD:c.3500_3501delCA chrX 32232523 32232524 DMD_00511 - DMD:c.3515G>A chrX 32232515 32232516 DMD_01235 - DMD:c.3523C>T chrX 32232495 32232496 DMD_01373 - DMD:c.3543T>G chrX 32232494 32232495 DMD_00991 - DMD:c.3544G>T chrX 32232482 32232483 DMD_01759 - DMD:c.3556G>T chrX 32232476 32232477 DMD_00570 - DMD:c.3562A>T chrX 32232458 32232459 DMD_00112 - DMD:c.3580C>T chrX 32232434 32232435 DMD_00137 - DMD:c.3603+1G>T chrX 32232433 32232434 DMD_01735 - DMD:c.3603+2dupT chrX 32232433 32232434 DMD_00152 - DMD:c.3603+2T>A chrX 32232433 32232434 DMD_00022 - DMD:c.3603+2T>G chrX 32232432 32232433 DMD_00523 - DMD:c.3603+3A>T chrX 32232420 32232421 DMD_00945 - DMD:c.3603+15delA chrX 32232420 32232421 DMD_01856 - DMD:c.3603+15dupA chrX 32232383 32232384 DMD_01458 - DMD:c.3603+52delA chrX 32226462 32226463 DMD_01459 - DMD:c.3604-51dupT chrX 32226403 32226407 DMD_01839 - DMD:c.3609_3612delinsCTT chrX 32226393 32226394 DMD_01141 - DMD:c.3622C>T chrX 32226350 32226388 DMD_00182 - DMD:c.3628_3665del chrX 32226385 32226386 DMD_00747 - DMD:c.3630delA chrX 32226384 32226385 DMD_00074 - DMD:c.3631G>T chrX 32226336 32226337 DMD_00415 - DMD:c.3679C>T chrX 32226310 32226311 DMD_01062 - DMD:c.3705C>T chrX 32226287 32226289 DMD_01096 - DMD:c.3727_3728del chrX 32226281 32226282 DMD_01002 - DMD:c.3734C>T chrX 32226273 32226280 DMD_01154 - DMD:c.3736_3742del chrX 32226269 32226270 DMD_01776 - DMD:c.3746G>A chrX 32226247 32226248 DMD_01180 - DMD:c.3768delG chrX 32226046 32226047 DMD_01460 - DMD:c.3786+183T>C chrX 32225933 32225934 DMD_01461 - DMD:c.3786+296C>T chrX 32219105 32219106 DMD_00946 - DMD:c.3787-18T>C chrX 32219073 32219074 DMD_01351 - DMD:c.3801T>A chrX 32219070 32219071 DMD_01313 - DMD:c.3804G>A chrX 32219052 32219053 DMD_01314 - DMD:c.3822C>A chrX 32219042 32219043 DMD_01035 - DMD:c.3832G>C chrX 32219010 32219011 DMD_00327 - DMD:c.3864delA chrX 32218998 32219008 DMD_01315 - DMD:c.3867_3876del chrX 32219006 32219007 DMD_01168 - DMD:c.3868A>T chrX 32218982 32218983 DMD_01837 - DMD:c.3892G>T chrX 32218967 32218968 DMD_01097 - DMD:c.3907dupT chrX 32218960 32218961 DMD_01693 - DMD:c.3914dupT chrX 32218825 32218826 DMD_01463 - DMD:c.3921+128C>T chrX 32216515 32216516 DMD_01464 - DMD:c.3922-352T>G chrX 32216367 32216368 DMD_01465 - DMD:c.3922-204C>G chrX 32216150 32216151 DMD_01777 - DMD:c.3935T>A chrX 32216145 32216146 DMD_00083 - DMD:c.3940C>T chrX 32216138 32216139 DMD_00183 - DMD:c.3947C>A chrX 32216137 32216139 DMD_00628 - DMD:c.3947_3948del chrX 32216133 32216134 DMD_01881 - DMD:c.3952G>C chrX 32216115 32216116 DMD_01808 - DMD:c.3970C>T chrX 32216103 32216104 DMD_00268 - DMD:c.3982C>T chrX 32216073 32216074 DMD_01305 - DMD:c.4012dupG chrX 32216073 32216074 DMD_00992 - DMD:c.4012G>T chrX 32216040 32216053 DMD_00194 - DMD:c.4033_4045del chrX 32216028 32216029 DMD_00298 - DMD:c.4057G>T chrX 32216021 32216022 DMD_00619 - DMD:c.4064A>T chrX 32216014 32216015 DMD_01070 - DMD:c.4071G>C chrX 32216013 32216014 DMD_00448 - DMD:c.4071+1G>A chrX 32216013 32216014 DMD_01191 - DMD:c.4071+1G>T chrX 32216012 32216013 DMD_01694 - DMD:c.4071+2T>A chrX 32215835 32215836 DMD_01466 - DMD:c.4071+179C>G chrX 32215670 32215671 DMD_01467 - DMD:c.4071+344dupG chrX 32215605 32215606 DMD_01468 - DMD:c.4071+409T>G chrX 32207511 32207512 DMD_00884 - DMD:c.4071+8503T>C chrX 32207419 32207420 DMD_00883 - DMD:c.4071+8595A>G chrX 32200633 32200634 DMD_00882 - DMD:c.4072-10947T>C chrX 32197509 32197510 DMD_00881 - DMD:c.4072-7823T>G chrX 32192511 32192512 DMD_00879 - DMD:c.4072-2825G>C chrX 32190423 32190424 DMD_00878 - DMD:c.4072-737G>A chrX 32190159 32190160 DMD_01469 - DMD:c.4072-473T>A chrX 32189671 32189672 DMD_00336 - DMD:c.4087A>T chrX 32189659 32189660 DMD_01848 - DMD:c.4099C>T chrX 32189655 32189656 DMD_00715 - DMD:c.4103delG chrX 32189650 32189651 DMD_00121 - DMD:c.4108C>T chrX 32189611 32189612 DMD_01778 - DMD:c.4147C>T chrX 32189608 32189609 DMD_00993 - DMD:c.4150G>T chrX 32189607 32189608 DMD_01198 - DMD:c.4151delA chrX 32189596 32189597 DMD_00557 - DMD:c.4162T>G chrX 32189584 32189585 DMD_01221 - DMD:c.4174C>T chrX 32189545 32189546 DMD_00050 - DMD:c.4213C>T chrX 32189523 32189524 DMD_01801 - DMD:c.4233+2C>T chrX 32189478 32189479 DMD_00776 - DMD:c.4233+47T>A chrX 32188252 32188253 DMD_00877 - DMD:c.4233+1273C>T chrX 32187645 32187646 DMD_00876 - DMD:c.4233+1880A>G chrX 32187325 32187326 DMD_00875 - DMD:c.4233+2200G>A chrX 32167967 32167968 DMD_00264 - DMD:c.4234-13A>G chrX 32167948 32167949 DMD_00548 - DMD:c.4240C>T chrX 32167938 32167939 DMD_00110 - DMD:c.4250T>A chrX 32167913 32167914 DMD_01470 - DMD:c.4275A>G chrX 32167903 32167904 DMD_01169 - DMD:c.4285A>T chrX 32167897 32167899 DMD_01647 - DMD:c.4290_4291del chrX 32167873 32167874 DMD_01316 - DMD:c.4315dupA chrX 32167827 32167828 DMD_00374 - DMD:c.4344+17A>T chrX 32167442 32167443 DMD_01244 - DMD:c.4350delA chrX 32167429 32167430 DMD_01884 - DMD:c.4363dupT chrX 32167417 32167418 DMD_00160 - DMD:c.4375C>T chrX 32167387 32167388 DMD_00416 - DMD:c.4405C>T chrX 32167386 32167387 DMD_00762 - DMD:c.4406A>T chrX 32167378 32167379 DMD_00051 - DMD:c.4414C>T chrX 32167378 32167379 DMD_00748 - DMD:c.4414delC chrX 32167335 32167336 DMD_01632 - DMD:c.4457delC chrX 32167320 32167322 DMD_00749 - DMD:c.4471_4472del chrX 32167309 32167310 DMD_01831 - DMD:c.4483C>T chrX 32167273 32167274 DMD_00354 - DMD:c.4518+1G>A chrX 32167273 32167274 DMD_01747 - DMD:c.4518+1G>C chrX 32167269 32167270 DMD_00417 - DMD:c.4518+5G>A chrX 32164557 32164558 DMD_01471 - DMD:c.4519-319A>G chrX 32164521 32164522 DMD_01472 - DMD:c.4519-283G>T chrX 32164503 32164505 DMD_01473 - DMD:c.4519-266_4519-265dup chrX 32164374 32164375 DMD_01474 - DMD:c.4519-136C>T chrX 32164272 32164273 DMD_01223 - DMD:c.4519-34T>A chrX 32164261 32164262 DMD_01475 - DMD:c.4519-23T>C chrX 32164243 32164244 DMD_00357 - DMD:c.4519-5C>G chrX 32164235 32164242 DMD_01737 - DMD:c.4519-3_4522del chrX 32164240 32164241 DMD_01874 - DMD:c.4519-2A>T chrX 32164234 32164241 DMD_01317 - DMD:c.4519-2_4523del chrX 32164239 32164240 DMD_00419 - DMD:c.4519-1G>C chrX 32164228 32164229 DMD_01116 - DMD:c.4529A>G chrX 32164208 32164213 DMD_00418 - DMD:c.4545_4549del chrX 32164187 32164188 DMD_01760 - DMD:c.4570A>T chrX 32164185 32164186 DMD_01318 - DMD:c.4572delG chrX 32164166 32164167 DMD_00100 - DMD:c.4591C>T chrX 32164151 32164152 DMD_00609 - DMD:c.4606G>T chrX 32164147 32164148 DMD_00777 - DMD:c.4610A>T chrX 32164119 32164120 DMD_01847 - DMD:c.4638delA chrX 32164114 32164115 DMD_00359 - DMD:c.4643delT chrX 32164095 32164096 DMD_00620 - DMD:c.4662G>C chrX 32164082 32164083 DMD_01236 - DMD:c.4674+1G>A chrX 32163905 32163906 DMD_01476 - DMD:c.4674+178T>C chrX 32163813 32163814 DMD_01477 - DMD:c.4674+270A>G chrX 32163808 32163809 DMD_01478 - DMD:c.4674+275C>G chrX 32158795 32158796 DMD_01479 - DMD:c.4675-342G>A chrX 32158506 32158507 DMD_01225 - DMD:c.4675-53G>T chrX 32158468 32158469 DMD_00377 - DMD:c.4675-15T>A chrX 32158455 32158456 DMD_00196 - DMD:c.4675-2A>G chrX 32158449 32158455 DMD_00421 - DMD:c.4675-1_4679delinsTATGTTAAAATATT chrX 32158435 32158436 DMD_00420 - DMD:c.4693C>T chrX 32158417 32158418 DMD_00522 - DMD:c.4711A>T chrX 32158408 32158409 DMD_01648 - DMD:c.4720dupC chrX 32158399 32158400 DMD_00114 - DMD:c.4729C>T chrX 32158371 32158372 DMD_00571 - DMD:c.4757G>A chrX 32158351 32158352 DMD_00134 - DMD:c.4777G>T chrX 32158348 32158349 DMD_00131 - DMD:c.4780delTins37 chrX 32158327 32158329 DMD_00356 - DMD:c.4800_4801delinsGT chrX 32158287 32158288 DMD_00352 - DMD:c.4841delG chrX 32158281 32158282 DMD_00530 - DMD:c.4845+2T>C chrX 32158214 32158215 DMD_01480 - DMD:c.4845+69G>A chrX 32157577 32157578 DMD_00874 - DMD:c.4845+706A>G chrX 32143125 32143126 DMD_01481 - DMD:c.4846-153G>A chrX 32142966 32142967 DMD_00095 - DMD:c.4852C>T chrX 32142961 32142962 DMD_00362 - DMD:c.4857delA chrX 32142948 32142949 DMD_00287 - DMD:c.4870C>T chrX 32142948 32142949 DMD_01267 - DMD:c.4870delC chrX 32142931 32142943 DMD_01157 - DMD:c.4876_4887del chrX 32142919 32142921 DMD_00304 - DMD:c.4898_4899del chrX 32142900 32142901 DMD_00197 - DMD:c.4918delA chrX 32142885 32142886 DMD_00132 - DMD:c.4933A>T chrX 32142838 32142839 DMD_01699 - DMD:c.4980delG chrX 32142822 32142823 DMD_00360 - DMD:c.4996C>T chrX 32142809 32142810 DMD_00750 - DMD:c.5009G>A chrX 32142808 32142809 DMD_00512 - DMD:c.5010G>T chrX 32142802 32142803 DMD_00554 - DMD:c.5016T>A chrX 32142797 32142799 DMD_01245 - DMD:c.5020_5021dup chrX 32142690 32142691 DMD_01482 - DMD:c.5025+103G>A chrX 32142576 32142577 DMD_01369 - DMD:c.5026-93A>G chrX 32142478 32142479 DMD_01846 - DMD:c.5031C>A chrX 32142477 32142478 DMD_00288 - DMD:c.5032C>T chrX 32142465 32142466 DMD_00572 - DMD:c.5044G>A chrX 32142420 32142421 DMD_01215 - DMD:c.5089C>T chrX 32142382 32142386 DMD_01246 - DMD:c.5124_5127del chrX 32142378 32142379 DMD_01142 - DMD:c.5131C>T chrX 32142370 32142371 DMD_00524 - DMD:c.5139delA chrX 32142369 32142370 DMD_01263 - DMD:c.5140delG chrX 32142365 32142366 DMD_00556 - DMD:c.5144A>G chrX 32142358 32142359 DMD_01098 - DMD:c.5151delT chrX 32142354 32142355 DMD_01700 - DMD:c.5154+1G>A chrX 32142353 32142354 DMD_01376 - DMD:c.5154+2T>C chrX 32142353 32142354 DMD_00422 - DMD:c.5154+2T>G chrX 32140794 32140795 DMD_01119 - DMD:c.5155-63T>A chrX 32140734 32140735 DMD_00199 - DMD:c.5155-3T>G chrX 32140727 32140728 DMD_01216 - DMD:c.5159T>A chrX 32140723 32140724 DMD_01484 - DMD:c.5163G>C chrX 32140683 32140684 DMD_01069 - DMD:c.5203C>T chrX 32140652 32140653 DMD_01039 - DMD:c.5234G>A chrX 32140631 32140632 DMD_00994 - DMD:c.5255T>G chrX 32140626 32140627 DMD_00299 - DMD:c.5260G>T chrX 32140620 32140621 DMD_01237 - DMD:c.5266C>T chrX 32140613 32140615 DMD_01701 - DMD:c.5272_5273del chrX 32140606 32140607 DMD_01807 - DMD:c.5280C>T chrX 32140599 32140600 DMD_00605 - DMD:c.5287C>T chrX 32140584 32140588 DMD_01779 - DMD:c.5299_5302dup chrX 32140579 32140580 DMD_00751 - DMD:c.5307delC chrX 32140572 32140573 DMD_00248 - DMD:c.5314A>T chrX 32140357 32140358 DMD_01485 - DMD:c.5325+204delC chrX 32140079 32140080 DMD_00873 - DMD:c.5325+482G>A chrX 32133973 32133974 DMD_00872 - DMD:c.5325+6588A>T chrX 32126786 32126787 DMD_01486 - DMD:c.5326-485T>A chrX 32126559 32126560 DMD_01487 - DMD:c.5326-258A>C chrX 32126355 32126356 DMD_00544 - DMD:c.5326-54A>C chrX 32126349 32126350 DMD_00510 - DMD:c.5326-48C>T chrX 32126323 32126324 DMD_00778 - DMD:c.5326-22G>T chrX 32126286 32126287 DMD_00737 - DMD:c.5341A>T chrX 32126277 32126278 DMD_00573 - DMD:c.5350G>T chrX 32126256 32126257 DMD_01319 - DMD:c.5371C>T chrX 32126229 32126230 DMD_00995 - DMD:c.5398G>T chrX 32126225 32126227 DMD_01204 - DMD:c.5401_5402del chrX 32126223 32126224 DMD_01108 - DMD:c.5404C>T chrX 32126214 32126215 DMD_00543 - DMD:c.5413delG chrX 32126190 32126194 DMD_01751 - DMD:c.5434_5437del chrX 32126190 32126194 DMD_01787 - DMD:c.5434_5437dup chrX 32126010 32126011 DMD_01488 - DMD:c.5448+169A>T chrX 32124316 32124317 DMD_01489 - DMD:c.5449-463A>G chrX 32123924 32123925 DMD_01036 - DMD:c.5449-71T>A chrX 32123854 32123855 DMD_00303 - DMD:c.5449-1G>A chrX 32123854 32123855 DMD_01377 - DMD:c.5449-1G>C chrX 32123843 32123844 DMD_01013 - DMD:c.5459A>G chrX 32123841 32123842 DMD_00337 - DMD:c.5461G>T chrX 32123814 32123816 DMD_01702 - DMD:c.5487_5488del chrX 32123792 32123793 DMD_01261 - DMD:c.5510delG chrX 32123776 32123778 DMD_01320 - DMD:c.5525_5526del chrX 32123772 32123773 DMD_01014 - DMD:c.5530C>A chrX 32123772 32123773 DMD_00257 - DMD:c.5530C>T chrX 32123760 32123761 DMD_00423 - DMD:c.5542A>T chrX 32123750 32123755 DMD_01164 - DMD:c.5548_5552del chrX 32123751 32123752 DMD_00004 - DMD:c.5551C>T chrX 32123751 32123752 DMD_00165 - DMD:c.5551delC chrX 32123748 32123749 DMD_00144 - DMD:c.5554C>T chrX 32123739 32123740 DMD_01170 - DMD:c.5563C>T chrX 32123734 32123738 DMD_00361 - DMD:c.5565_5568del chrX 32123731 32123733 DMD_01257 - DMD:c.5570_5571del chrX 32123655 32123656 DMD_01804 - DMD:c.5586+61A>T chrX 32123623 32587264 DMD_01490 - DMD:c.5586+93_558+94insAG chrX 32123621 32123623 DMD_00378 - DMD:c.5586+94_5586+95dup chrX 32123620 32123621 DMD_01491 - DMD:c.5586+96delT chrX 32123478 32123479 DMD_01492 - DMD:c.5586+238G>A chrX 32121041 32121045 DMD_01703 - DMD:c.5602_5605del chrX 32121038 32121039 DMD_01321 - DMD:c.5608A>T chrX 32121031 32121037 DMD_01322 - DMD:c.5610_5615del chrX 32121034 32121035 DMD_01323 - DMD:c.5612delA chrX 32121031 32121032 DMD_01819 - DMD:c.5615C>T chrX 32121009 32121010 DMD_01186 - DMD:c.5637G>A chrX 32121005 32121006 DMD_00424 - DMD:c.5641C>T chrX 32120993 32120994 DMD_01845 - DMD:c.5653C>T chrX 32120975 32120976 DMD_01780 - DMD:c.5671A>T chrX 32120957 32120958 DMD_01279 - DMD:c.5689delG chrX 32120949 32120953 DMD_01099 - DMD:c.5694_5697del chrX 32120949 32120950 DMD_00636 - DMD:c.5697delA chrX 32120949 32120950 DMD_00128 - DMD:c.5697dupA chrX 32120947 32120948 DMD_01113 - DMD:c.5699T>G chrX 32120939 32120943 DMD_01762 - DMD:c.5704_5707del chrX 32120923 32120924 DMD_00961 - DMD:c.5723A>T chrX 32120922 32120923 DMD_00375 - DMD:c.5724T>C chrX 32120689 32120690 DMD_01493 - DMD:c.5739+218G>A chrX 32120122 32120123 DMD_01494 - DMD:c.5740-67G>T chrX 32120069 32120070 DMD_01806 - DMD:c.5740-14dupG chrX 32120057 32120058 DMD_01704 - DMD:c.5740-2A>G chrX 32120057 32120058 DMD_01705 - DMD:c.5740-2A>T chrX 32120038 32120049 DMD_01324 - DMD:c.5747_5757del chrX 32120037 32120038 DMD_00996 - DMD:c.5758C>T chrX 32120025 32120030 DMD_01739 - DMD:c.5766_5770del chrX 32120023 32120025 DMD_01100 - DMD:c.5771_5772del chrX 32120020 32120021 DMD_01058 - DMD:c.5775G>A chrX 32119995 32119996 DMD_00425 - DMD:c.5800G>T chrX 32119950 32119951 DMD_00120 - DMD:c.5845delC chrX 32119937 32119948 DMD_00316 - DMD:c.5848_5858del chrX 32119944 32119945 DMD_00115 - DMD:c.5851C>T chrX 32119896 32119897 DMD_00052 - DMD:c.5899C>T chrX 32119893 32119894 DMD_01325 - DMD:c.5902A>T chrX 32119878 32119879 DMD_00997 - DMD:c.5917C>T chrX 32119871 32119872 DMD_01706 - DMD:c.5922+2T>C chrX 32119868 32119869 DMD_01072 - DMD:c.5922+5G>A chrX 32119795 32119797 DMD_00324 - DMD:c.5922+77_5922+78del chrX 32116712 32116713 DMD_00871 - DMD:c.5922+3161C>G chrX 32112370 32112371 DMD_00870 - DMD:c.5922+7503A>G chrX 32097980 32097981 DMD_00869 - DMD:c.5923-9931T>C chrX 32094818 32094819 DMD_00868 - DMD:c.5923-6769A>T chrX 32094306 32094307 DMD_00867 - DMD:c.5923-6257C>G chrX 32094188 32094189 DMD_00866 - DMD:c.5923-6139G>A chrX 32090096 32090097 DMD_00948 - DMD:c.5923-2047C>G chrX 32088228 32088229 DMD_01495 - DMD:c.5923-179G>A chrX 32088014 32088016 DMD_00517 - DMD:c.5957_5958del chrX 32087935 32087936 DMD_01326 - DMD:c.6037G>T chrX 32087867 32087868 DMD_00998 - DMD:c.6105G>T chrX 32087859 32087861 DMD_01868 - DMD:c.6112_6113del chrX 32087472 32087473 DMD_01496 - DMD:c.6117+383T>C chrX 32073146 32073147 DMD_00865 - DMD:c.6118-7672T>C chrX 32073001 32073002 DMD_00864 - DMD:c.6118-7527C>A chrX 32068116 32068117 DMD_00863 - DMD:c.6118-2642C>A chrX 32065624 32065625 DMD_00388 - DMD:c.6118-150T>C chrX 32065617 32065618 DMD_01007 - DMD:c.6118-143C>A chrX 32065547 32065549 DMD_01042 - DMD:c.6118-75_6118-74AT(7_9) chrX 32065537 32065538 DMD_01005 - DMD:c.6118-63A>T chrX 32065532 32065534 DMD_01050 - DMD:c.6118-59_6118-58dup chrX 32065532 32065533 DMD_01041 - DMD:c.6118-58delT chrX 32065532 32065533 DMD_01040 - DMD:c.6118-58dupT chrX 32065475 32065476 DMD_01748 - DMD:c.6118-1G>A chrX 32065461 32065465 DMD_00200 - DMD:c.6128_6131del chrX 32065409 32065410 DMD_00089 - DMD:c.6183dupA chrX 32065392 32065393 DMD_00053 - DMD:c.6200delC chrX 32065389 32065390 DMD_00752 - DMD:c.6203delC chrX 32065384 32065385 DMD_00084 - DMD:c.6208G>T chrX 32065369 32065370 DMD_01795 - DMD:c.6223C>T chrX 32065354 32065355 DMD_01708 - DMD:c.6238C>T chrX 32065337 32065338 DMD_00310 - DMD:c.6255G>A chrX 32065331 32065336 DMD_01853 - DMD:c.6257_6261delinsGAAAAT chrX 32065316 32065317 DMD_00309 - DMD:c.6276C>G chrX 32065309 32065310 DMD_00175 - DMD:c.6283C>T chrX 32065301 32065302 DMD_01836 - DMD:c.6290+1G>A chrX 32065301 32065302 DMD_00247 - DMD:c.6290+1G>T chrX 32065297 32065298 DMD_01275 - DMD:c.6290+5delG chrX 32065297 32065298 DMD_01661 - DMD:c.6290+5G>A chrX 32065275 32065276 DMD_00947 - DMD:c.6290+27T>A chrX 32065210 32065211 DMD_01497 - DMD:c.6290+92dupA chrX 32038394 32038395 DMD_00861 - DMD:c.6290+26908C>G chrX 32038019 32038020 DMD_00860 - DMD:c.6290+27283G>A chrX 32037757 32037758 DMD_00859 - DMD:c.6290+27545C>T chrX 32024940 32024941 DMD_00858 - DMD:c.6291-30104T>C chrX 32024854 32024855 DMD_00857 - DMD:c.6291-30018G>A chrX 32021233 32021234 DMD_00856 - DMD:c.6291-26397G>C chrX 31997690 31997691 DMD_00486 - DMD:c.6291-2854G>A chrX 31997618 31997619 DMD_00485 - DMD:c.6291-2782C>A chrX 31997613 31997614 DMD_00483 - DMD:c.6291-2777G>A chrX 31997514 31997515 DMD_00482 - DMD:c.6291-2678A>C chrX 31997277 31997278 DMD_00481 - DMD:c.6291-2441T>C chrX 31997127 31997128 DMD_00480 - DMD:c.6291-2291A>G chrX 31996869 31996870 DMD_00479 - DMD:c.6291-2033C>T chrX 31996596 31996597 DMD_00478 - DMD:c.6291-1760T>G chrX 31996266 31996267 DMD_00477 - DMD:c.6291-1430T>C chrX 31995934 31995935 DMD_00475 - DMD:c.6291-1098C>G chrX 31995894 31995895 DMD_00474 - DMD:c.6291-1058C>T chrX 31995435 31995436 DMD_00473 - DMD:c.6291-599T>C chrX 31995016 31995019 DMD_01056 - DMD:c.6291-182_6291-180del chrX 31995015 31995016 DMD_00782 - DMD:c.6291-179G>A chrX 31994951 31994952 DMD_01027 - DMD:c.6291-115G>A chrX 31994938 31994939 DMD_01498 - DMD:c.6291-102G>A chrX 31994880 31994881 DMD_01499 - DMD:c.6291-44C>G chrX 31994835 31994836 DMD_00054 - DMD:c.6292C>T chrX 31994809 31994810 DMD_01000 - DMD:c.6318G>A chrX 31994805 31994806 DMD_00376 - DMD:c.6322C>T chrX 31994800 31994801 DMD_00176 - DMD:c.6327dupT chrX 31994763 31994779 DMD_00724 - DMD:c.6349_6364del chrX 31994763 31994764 DMD_01709 - DMD:c.6364G>T chrX 31994754 31994755 DMD_00055 - DMD:c.6373C>T chrX 31994739 31994743 DMD_01810 - DMD:c.6385_6388del chrX 31994736 31994737 DMD_00999 - DMD:c.6391C>T chrX 31994733 31994735 DMD_01199 - DMD:c.6393_6394del chrX 31994704 31994705 DMD_01763 - DMD:c.6423C>A chrX 31994704 31994705 DMD_01649 - DMD:c.6423C>G chrX 31994704 31994705 DMD_00574 - DMD:c.6423C>T chrX 31994690 31994701 DMD_00129 - DMD:c.6427_6437del chrX 31994698 31994699 DMD_01268 - DMD:c.6429G>A chrX 31994688 31994693 DMD_00187 - DMD:c.6435_6438+1del chrX 31994691 31994692 DMD_00338 - DMD:c.6436A>T chrX 31994680 31994692 DMD_00118 - DMD:c.6436_6438+9del chrX 31994688 31994689 DMD_00079 - DMD:c.6438+1G>A chrX 31994688 31994689 DMD_01082 - DMD:c.6438+1G>T chrX 31994567 31994570 DMD_01051 - DMD:c.6438+120_6438+122del chrX 31994416 31994417 DMD_01500 - DMD:c.6438+273G>A chrX 31993448 31993449 DMD_00489 - DMD:c.6438+1241G>A chrX 31993204 31993205 DMD_00490 - DMD:c.6438+1485C>T chrX 31992876 31992877 DMD_00491 - DMD:c.6438+1813A>G chrX 31992838 31992839 DMD_00492 - DMD:c.6438+1851A>T chrX 31992835 31992836 DMD_00493 - DMD:c.6438+1854G>T chrX 31992540 31992541 DMD_00494 - DMD:c.6438+2149A>G chrX 31992539 31992540 DMD_00495 - DMD:c.6438+2150A>C chrX 31992129 31992130 DMD_00497 - DMD:c.6438+2560T>C chrX 31992099 31992100 DMD_00496 - DMD:c.6438+2590A>G chrX 31992026 31992027 DMD_00498 - DMD:c.6438+2663T>A chrX 31992020 31992021 DMD_00499 - DMD:c.6438+2669(T)16_23 chrX 31991539 31991547 DMD_00500 - DMD:c.6438+3143_6438+3150dup chrX 31990962 31990963 DMD_00501 - DMD:c.6438+3727A>G chrX 31990712 31990713 DMD_00502 - DMD:c.6438+3977T>C chrX 31990583 31990584 DMD_00503 - DMD:c.6438+4106C>T chrX 31990554 31990555 DMD_00504 - DMD:c.6438+4135T>C chrX 31990418 31990419 DMD_00505 - DMD:c.6438+4271C>T chrX 31990096 31990097 DMD_00506 - DMD:c.6438+4593C>T chrX 31989695 31989696 DMD_00507 - DMD:c.6438+4994G>A chrX 31989695 31989696 DMD_00508 - DMD:c.6438+4994G>C chrX 31960569 31960570 DMD_00855 - DMD:c.6438+34120A>G chrX 31705431 31952260 DMD_00587 - DMD:c.6438+42430_6912+1938del chrX 31941297 31941298 DMD_00854 - DMD:c.6438+53392C>T chrX 31933552 31933553 DMD_01501 - DMD:c.6438+61137A>G chrX 31933458 31933459 DMD_01502 - DMD:c.6438+61231T>C chrX 31933323 31933324 DMD_01503 - DMD:c.6438+61366A>G chrX 31933114 31933115 DMD_01504 - DMD:c.6438+61575C>T chrX 31925069 31925070 DMD_00853 - DMD:c.6438+69620G>C chrX 31668484 31914957 DMD_00589 - DMD:c.6438+79733_6913-15338del chrX 31706073 31888293 DMD_00588 - DMD:c.6438+106397_6912+1296del chrX 31684640 31883841 DMD_00584 - DMD:c.6438+110849_6912+22729del chrX 31669726 31880373 DMD_00580 - DMD:c.6438+114317_6913-16580del chrX 31617077 31873864 DMD_00592 - DMD:c.6438+120826_7099-2485del chrX 31871235 31871236 DMD_00852 - DMD:c.6438+123454G>A chrX 31870788 31870789 DMD_00851 - DMD:c.6438+123901G>A chrX 31870119 31870120 DMD_00850 - DMD:c.6439-123832T>A chrX 31868464 31868465 DMD_00849 - DMD:c.6439-122177T>C chrX 31860716 31860717 DMD_00848 - DMD:c.6439-114429C>T chrX 31857487 31857488 DMD_00846 - DMD:c.6439-111200T>C chrX 31663644 31852792 DMD_00596 - DMD:c.6439-106504_6913-10498del chrX 31632446 31819979 DMD_00579 - DMD:c.6439-73691_7099-17854delinsGCAC chrX 31815191 31815192 DMD_00845 - DMD:c.6439-68904T>C chrX 31662266 31811776 DMD_00598 - DMD:c.6439-65488_6913-9120delinsT chrX 31629230 31811449 DMD_00581 - DMD:c.6439-65161_7099-14638del chrX 31805560 31805561 DMD_00844 - DMD:c.6439-59273G>T chrX 31629003 31805517 DMD_00582 - DMD:c.6439-59229_7099-14411delinsGTTGA chrX 31801767 31801768 DMD_00767 - DMD:c.6439-55480dupA chrX 31654512 31798042 DMD_00471 - DMD:c.6439-51754_6913-1366del chrX 31655435 31793582 DMD_00585 - DMD:c.6439-47294_6913-2289del chrX 31793116 31793117 DMD_00843 - DMD:c.6439-46829G>T chrX 31703252 31784451 DMD_00599 - DMD:c.6439-38163_6912+4117delinsCCTATTTCCAAA chrX 31615533 31773830 DMD_00593 - DMD:c.6439-27542_7099-941delinsCA chrX 31552028 31773041 DMD_00470 - DMD:c.6439-26753_7310-63delinsCAAAT chrX 31619808 31772319 DMD_00590 - DMD:c.6439-26031_7099-5216delinsTCAGTTC chrX 31696614 31767254 DMD_00597 - DMD:c.6439-20966_6912+10755del chrX 31760728 31760730 DMD_00623 - DMD:c.6439-14442_6439-14441ins317 chrX 31597069 31758899 DMD_00583 - DMD:c.6439-12611_7098+17524del chrX 31755479 31755480 DMD_00766 - DMD:c.6439-9192A>T chrX 31750512 31750513 DMD_00842 - DMD:c.6439-4225C>G chrX 31619539 31747443 DMD_00595 - DMD:c.6439-1155_7099-4947del chrX 31746430 31746431 DMD_01043 - DMD:c.6439-143G>A chrX 31746289 31746290 DMD_01710 - DMD:c.6439-2A>G chrX 31746266 31746267 DMD_00339 - DMD:c.6460C>T chrX 31746263 31746264 DMD_01057 - DMD:c.6463C>T chrX 31746250 31746251 DMD_00725 - DMD:c.6476dupT chrX 31746227 31746228 DMD_01222 - DMD:c.6499G>T chrX 31746200 31746201 DMD_00722 - DMD:c.6526dupA chrX 31746189 31746190 DMD_01327 - DMD:c.6537dupT chrX 31746182 31746183 DMD_01238 - DMD:c.6544C>T chrX 31746172 31746173 DMD_00227 - DMD:c.6554dupT chrX 31746155 31746156 DMD_01059 - DMD:c.6571C>T chrX 31746149 31746150 DMD_00447 - DMD:c.6577C>T chrX 31746111 31746146 DMD_01077 - DMD:c.6581_6614+1del35 chrX 31746134 31746135 DMD_00301 - DMD:c.6592C>T chrX 31746120 31746124 DMD_00606 - DMD:c.6603_6606del chrX 31746111 31746112 DMD_01126 - DMD:c.6614+1G>C chrX 31746110 31746111 DMD_00426 - DMD:c.6614+2T>C chrX 31746087 31746088 DMD_00389 - DMD:c.6614+25T>G chrX 31746086 31746087 DMD_00383 - DMD:c.6614+26G>T chrX 31745926 31745927 DMD_01505 - DMD:c.6614+186T>C chrX 31745126 31745128 DMD_00622 - DMD:c.6614+985(CA)21_35 chrX 31708328 31731988 DMD_00940 - DMD:c.6614+14125_6763-810del chrX 31725248 31725249 DMD_00841 - DMD:c.6615-15248A>G chrX 31711354 31711355 DMD_00840 - DMD:c.6615-1354C>T chrX 31710058 31710059 DMD_01506 - DMD:c.6615-58A>C chrX 31710000 31710011 DMD_00185 - DMD:c.6615-10_6615del chrX 31709967 31709968 DMD_00738 - DMD:c.6648delT chrX 31709941 31709942 DMD_01280 - DMD:c.6674T>G chrX 31709895 31709896 DMD_01711 - DMD:c.6720delT chrX 31709885 31709886 DMD_00258 - DMD:c.6730C>T chrX 31709873 31709874 DMD_01712 - DMD:c.6742G>T chrX 31709852 31709853 DMD_01662 - DMD:c.6762+1G>A chrX 31709712 31709713 DMD_01507 - DMD:c.6762+141C>T chrX 31709669 31709670 DMD_01508 - DMD:c.6762+184T>C chrX 31709575 31709576 DMD_01509 - DMD:c.6762+278delT chrX 31626198 31709429 DMD_00972 - DMD:c.6762+425_7099-11606del chrX 31707609 31707610 DMD_01510 - DMD:c.6763-91delA chrX 31707489 31707506 DMD_00056 - DMD:c.6776_6792del chrX 31707491 31707492 DMD_00204 - DMD:c.6790C>T chrX 31707487 31707488 DMD_00535 - DMD:c.6794delG chrX 31707474 31707478 DMD_01101 - DMD:c.6804_6807del chrX 31707453 31707454 DMD_00954 - DMD:c.6828C>T chrX 31707433 31707434 DMD_00270 - DMD:c.6848dupT chrX 31707425 31707426 DMD_01001 - DMD:c.6856G>T chrX 31707413 31707414 DMD_00549 - DMD:c.6868A>T chrX 31707401 31707402 DMD_00525 - DMD:c.6880A>T chrX 31707385 31707386 DMD_00577 - DMD:c.6896A>C chrX 31707376 31707377 DMD_01844 - DMD:c.6905G>A chrX 31707375 31707376 DMD_01328 - DMD:c.6906G>A chrX 31707251 31707256 DMD_01511 - DMD:c.6912+114(GTTTT)3_4 chrX 31600898 31703142 DMD_01066 - DMD:c.6912+4228_7201-3042del chrX 31603596 31701688 DMD_01065 - DMD:c.6912+5682_7201-5740delinsCAGT chrX 31598831 31700008 DMD_00964 - DMD:c.6912+7362_7201-975delins18 chrX 31609755 31689214 DMD_00963 - DMD:c.6912+18156_7200+4736delinsTTCT chrX 31599398 31688210 DMD_01068 - DMD:c.6912+19160_7201-1542del chrX 31683028 31683029 DMD_00839 - DMD:c.6912+24341C>G chrX 31603680 31681918 DMD_00970 - DMD:c.6912+25452_7098+10913delinsA chrX 31600686 31681763 DMD_00536 - DMD:c.6912+25607_7201-2830del chrX 31602289 31673480 DMD_00538 - DMD:c.6913-20333_7201-4433del chrX 31672184 31672185 DMD_00838 - DMD:c.6913-19038A>C chrX 31517424 31669451 DMD_01291 - DMD:c.6913-16304_7543-9903delinsT chrX 31599117 31669212 DMD_01292 - DMD:c.6913-16065_7098+15476del chrX 31623362 31668462 DMD_00591 - DMD:c.6913-15315_7099-8770del chrX 31603843 31667748 DMD_01293 - DMD:c.6913-14601_7201-5987del chrX 31609851 31665855 DMD_01067 - DMD:c.6913-12708_7200+4640del chrX 31616537 31661675 DMD_00968 - DMD:c.6913-8528_7099-1945delinsAGTGAGG chrX 31622323 31661625 DMD_00969 - DMD:c.6913-8478_7099-7731delins13 chrX 31603147 31660697 DMD_00537 - DMD:c.6913-7550_7201-5291del chrX 31630600 31659171 DMD_00966 - DMD:c.6913-6024_7099-16008del chrX 31611181 31657094 DMD_00965 - DMD:c.6913-3947_7098+3412del chrX 31656064 31656065 DMD_00837 - DMD:c.6913-2918G>A chrX 31614439 31654801 DMD_00967 - DMD:c.6913-1654_7098+154delins27 chrX 31631042 31654219 DMD_00586 - DMD:c.6913-1072_7099-16450del chrX 31653260 31653261 DMD_01029 - DMD:c.6913-114A>T chrX 31653196 31653197 DMD_01006 - DMD:c.6913-50dupG chrX 31653176 31653177 DMD_01512 - DMD:c.6913-30T>C chrX 31653160 31653161 DMD_01028 - DMD:c.6913-14T>C chrX 31653148 31653149 DMD_00520 - DMD:c.6913-2A>G chrX 31653116 31653117 DMD_01378 - DMD:c.6943G>T chrX 31653104 31653105 DMD_00014 - DMD:c.6955C>T chrX 31653095 31653096 DMD_00427 - DMD:c.6964delG chrX 31653073 31653074 DMD_00163 - DMD:c.6986delA chrX 31653073 31653074 DMD_00058 - DMD:c.6986dupA chrX 31653053 31653054 DMD_01023 - DMD:c.7006C>T chrX 31653049 31653050 DMD_00934 - DMD:c.7010T>G chrX 31653043 31653044 DMD_01809 - DMD:c.7016A>C chrX 31653005 31653006 DMD_00340 - DMD:c.7054G>T chrX 31652984 31652985 DMD_01329 - DMD:c.7075C>T chrX 31652981 31652983 DMD_00011 - DMD:c.7077_7078delinsT chrX 31652974 31652975 DMD_00380 - DMD:c.7085C>A chrX 31652970 31652971 DMD_00428 - DMD:c.7089dupT chrX 31614595 31614596 DMD_01030 - DMD:c.7096C>A chrX 31614592 31614593 DMD_00059 - DMD:c.7098+1G>A chrX 31534852 31608287 DMD_00971 - DMD:c.7098+6307_7542+16881del chrX 31614965 31614966 DMD_01514 - DMD:c.7099-373T>G chrX 31614586 31614587 DMD_01714 - DMD:c.7105G>T chrX 31614532 31614533 DMD_00768 - DMD:c.7159C>T chrX 31614510 31614511 DMD_00156 - DMD:c.7181delC chrX 31614508 31614509 DMD_01823 - DMD:c.7183G>A chrX 31614438 31614439 DMD_01053 - DMD:c.7200+53C>G chrX 31614080 31614081 DMD_01515 - DMD:c.7200+411G>A chrX 31613424 31613425 DMD_00646 - DMD:c.7200+1067G>A chrX 31613344 31613345 DMD_00637 - DMD:c.7200+1147T>A chrX 31612657 31612658 DMD_00638 - DMD:c.7200+1834T>C chrX 31612559 31612560 DMD_00639 - DMD:c.7200+1932C>T chrX 31490015 31612455 DMD_00540 - DMD:c.7200+2037_7660+17389del chrX 31612218 31612219 DMD_00640 - DMD:c.7200+2273A>C chrX 31551733 31612165 DMD_00539 - DMD:c.7200+2327_7542+?del chrX 31611579 31611580 DMD_00641 - DMD:c.7200+2912G>A chrX 31611266 31611267 DMD_00642 - DMD:c.7200+3225G>A chrX 31609923 31609924 DMD_00643 - DMD:c.7200+4568A>G chrX 31507404 31609674 DMD_00469 - DMD:c.7200+4818_7660+?dup chrX 31608986 31608987 DMD_00564 - DMD:c.7200+5505T>C chrX 31608380 31608381 DMD_00647 - DMD:c.7200+6111T>G chrX 31604688 31604689 DMD_00648 - DMD:c.7201-6832A>G chrX 31603769 31603770 DMD_00649 - DMD:c.7201-5913G>A chrX 31602886 31602887 DMD_00650 - DMD:c.7201-5030T>G chrX 31600843 31600844 DMD_00644 - DMD:c.7201-2987T>C chrX 31600554 31600555 DMD_00651 - DMD:c.7201-2698A>G chrX 31599259 31599260 DMD_00653 - DMD:c.7201-1403C>T chrX 31598749 31598750 DMD_00835 - DMD:c.7201-893C>T chrX 31598549 31598550 DMD_00645 - DMD:c.7201-693T>C chrX 31598015 31598016 DMD_01516 - DMD:c.7201-159A>C chrX 31597858 31597859 DMD_01148 - DMD:c.7201-2A>G chrX 31597857 31597858 DMD_01144 - DMD:c.7201-1G>A chrX 31597853 31597854 DMD_00142 - DMD:c.7204A>T chrX 31597823 31597824 DMD_00147 - DMD:c.7234delG chrX 31597810 31597811 DMD_01741 - DMD:c.7247delT chrX 31597747 31597748 DMD_00186 - DMD:c.7309+1G>A chrX 31597744 31597745 DMD_00721 - DMD:c.7309+4A>G chrX 31597572 31597573 DMD_00654 - DMD:c.7309+176T>C chrX 31596630 31596631 DMD_00655 - DMD:c.7309+1118G>A chrX 31596582 31596583 DMD_00656 - DMD:c.7309+1166A>T chrX 31594626 31594627 DMD_00657 - DMD:c.7309+3122T>G chrX 31594548 31594549 DMD_00658 - DMD:c.7309+3200C>T chrX 31592691 31592692 DMD_00659 - DMD:c.7309+5057A>G chrX 31591977 31591978 DMD_00660 - DMD:c.7309+5771C>T chrX 31591688 31591689 DMD_00661 - DMD:c.7309+6060G>A chrX 31590383 31590384 DMD_00662 - DMD:c.7309+7365T>A chrX 31589526 31589527 DMD_00663 - DMD:c.7309+8222C>T chrX 31589472 31589473 DMD_00664 - DMD:c.7309+8276C>T chrX 31587821 31587822 DMD_00665 - DMD:c.7309+9927delinsAGTAC chrX 31586994 31586995 DMD_00666 - DMD:c.7309+10754A>G chrX 31584319 31584320 DMD_00667 - DMD:c.7309+13429A>G chrX 31580170 31580171 DMD_00668 - DMD:c.7309+17578G>A chrX 31579942 31579943 DMD_00669 - DMD:c.7309+17806G>A chrX 31579592 31579593 DMD_00670 - DMD:c.7309+18156G>C chrX 31579365 31579366 DMD_00671 - DMD:c.7309+18383delT chrX 31578535 31578536 DMD_00672 - DMD:c.7309+19213dupA chrX 31578336 31578337 DMD_00673 - DMD:c.7309+19412A>G chrX 31578192 31578193 DMD_00674 - DMD:c.7309+19556C>A chrX 31575368 31575369 DMD_00675 - DMD:c.7309+22380G>T chrX 31512492 31578282 DMD_00459 - DMD:c.7309+19467_7543-4971del chrX 31573145 31573146 DMD_00676 - DMD:c.7310-21180C>A chrX 31571311 31571312 DMD_00677 - DMD:c.7310-19346A>T chrX 31570633 31570634 DMD_00678 - DMD:c.7310-18668T>C chrX 31569111 31569112 DMD_00679 - DMD:c.7310-17146G>A chrX 31568611 31568612 DMD_00680 - DMD:c.7310-16646C>T chrX 31568029 31568030 DMD_00681 - DMD:c.7310-16064C>T chrX 31567072 31567073 DMD_00682 - DMD:c.7310-15107C>T chrX 31566686 31566687 DMD_00683 - DMD:c.7310-14721C>T chrX 31565683 31565684 DMD_00684 - DMD:c.7310-13718G>A chrX 31563756 31563757 DMD_00685 - DMD:c.7310-11791C>T chrX 31561184 31561185 DMD_00686 - DMD:c.7310-9219A>G chrX 31560016 31560017 DMD_00687 - DMD:c.7310-8051T>C chrX 31559272 31559273 DMD_00689 - DMD:c.7310-7307G>C chrX 31558622 31558623 DMD_00690 - DMD:c.7310-6657T>C chrX 31557970 31557971 DMD_00691 - DMD:c.7310-6005C>T chrX 31557489 31557491 DMD_00633 - DMD:c.7310-5525(CA)11_21 chrX 31557093 31557094 DMD_00692 - DMD:c.7310-5128G>A chrX 31555168 31555169 DMD_00693 - DMD:c.7310-3203T>C chrX 31554474 31554475 DMD_00694 - DMD:c.7310-2509A>C chrX 31554427 31554428 DMD_00695 - DMD:c.7310-2462T>A chrX 31553987 31553988 DMD_01175 - DMD:c.7310-2022G>T chrX 31552897 31552898 DMD_00696 - DMD:c.7310-932T>A chrX 31552828 31552829 DMD_00697 - DMD:c.7310-863T>A chrX 31552745 31552746 DMD_00698 - DMD:c.7310-780A>G chrX 31552492 31552493 DMD_00699 - DMD:c.7310-527C>T chrX 31552215 31552216 DMD_01518 - DMD:c.7310-250C>T chrX 31552003 31552004 DMD_01519 - DMD:c.7310-38T>A chrX 31552001 31552002 DMD_00381 - DMD:c.7310-36C>T chrX 31551972 31551973 DMD_01520 - DMD:c.7310-7A>G chrX 31551966 31551967 DMD_00245 - DMD:c.7310-1G>A chrX 31551936 31551937 DMD_00130 - DMD:c.7339C>T chrX 31551927 31551928 DMD_00429 - DMD:c.7348delG chrX 31551880 31551881 DMD_01102 - DMD:c.7395delG chrX 31551875 31551876 DMD_01824 - DMD:c.7400delT chrX 31551873 31551875 DMD_00060 - DMD:c.7401_7402delinsAT chrX 31551869 31551870 DMD_01867 - DMD:c.7406dupT chrX 31551839 31551840 DMD_01248 - DMD:c.7436G>A chrX 31551819 31551820 DMD_00150 - DMD:c.7456delC chrX 31551732 31551733 DMD_00192 - DMD:c.7542+1G>A chrX 31551731 31551732 DMD_01716 - DMD:c.7542+2T>C chrX 31551720 31551721 DMD_01015 - DMD:c.7542+13A>G chrX 31547275 31547276 DMD_00834 - DMD:c.7542+4458T>G chrX 31547111 31547112 DMD_00833 - DMD:c.7542+4622A>G chrX 31534261 31534263 DMD_00624 - DMD:c.7542+17471(GT)11_14 chrX 31532345 31532346 DMD_00832 - DMD:c.7542+19388G>C chrX 31510848 31510850 DMD_00466 - DMD:c.7543-3328_7543-3327delinsTGA, t(X;4)(p21;q35) chrX 31509119 31509120 DMD_00831 - DMD:c.7543-1598C>T chrX 31507680 31507681 DMD_01521 - DMD:c.7543-159T>C chrX 31507677 31507678 DMD_01522 - DMD:c.7543-156C>G chrX 31507500 31507501 DMD_00164 - DMD:c.7564C>T chrX 31507488 31507489 DMD_00552 - DMD:c.7576C>T chrX 31507482 31507483 DMD_01250 - DMD:c.7582G>T chrX 31507473 31507478 DMD_01189 - DMD:c.7587_7591del chrX 31507407 31507408 DMD_00273 - DMD:c.7657C>T chrX 31507403 31507404 DMD_01162 - DMD:c.7660+1G>T chrX 31478556 31478557 DMD_00830 - DMD:c.7661-21197G>C chrX 31457361 31457362 DMD_01260 - DMD:c.7661-2A>C chrX 31457361 31457362 DMD_01330 - DMD:c.7661-2A>T chrX 31457360 31457361 DMD_00263 - DMD:c.7661-1G>A chrX 31457351 31457352 DMD_01717 - DMD:c.7669delA chrX 31457348 31457349 DMD_00431 - DMD:c.7672C>T chrX 31457338 31457339 DMD_01187 - DMD:c.7682G>A chrX 31457331 31457332 DMD_01262 - DMD:c.7689delA chrX 31457300 31457301 DMD_01875 - DMD:c.7720C>T chrX 31457298 31457299 DMD_01650 - DMD:c.7722G>C chrX 31457292 31457293 DMD_00763 - DMD:c.7728T>C chrX 31457284 31457285 DMD_01076 - DMD:c.7736T>A chrX 31457281 31457282 DMD_01718 - DMD:c.7739delA chrX 31457265 31457266 DMD_01764 - DMD:c.7755G>A chrX 31457249 31457253 DMD_01719 - DMD:c.7768_7771del chrX 31457207 31457209 DMD_01781 - DMD:c.7812_7813insAA chrX 31457198 31457199 DMD_01171 - DMD:c.7822G>T chrX 31457187 31457188 DMD_00203 - DMD:c.7833dupT chrX 31457165 31457166 DMD_01720 - DMD:c.7855dupA chrX 31456548 31456549 DMD_00829 - DMD:c.7872+600C>T chrX 31451985 31451986 DMD_00828 - DMD:c.7872+5163G>A chrX 31435925 31435926 DMD_01127 - DMD:c.7873-8A>G chrX 31435917 31435918 DMD_01721 - DMD:c.7873delC chrX 31435891 31435892 DMD_01361 - DMD:c.7899delG chrX 31435882 31435886 DMD_01132 - DMD:c.7905_7908dup chrX 31435879 31435883 DMD_00212 - DMD:c.7908_7911dup chrX 31435829 31435830 DMD_00952 - DMD:c.7961A>G chrX 31435797 31435799 DMD_01651 - DMD:c.7992_7993del chrX 31435765 31435794 DMD_01281 - DMD:c.7997_8025del chrX 31435781 31435792 DMD_01331 - DMD:c.7999_8009del chrX 31435762 31435763 DMD_00201 - DMD:c.8027+1G>A chrX 31435762 31435763 DMD_01789 - DMD:c.8027+1G>T chrX 31435761 31435762 DMD_01790 - DMD:c.8027+2T>A chrX 31435761 31435762 DMD_00057 - DMD:c.8027+2T>C chrX 31435756 31435757 DMD_00959 - DMD:c.8027+7A>T chrX 31435752 31435753 DMD_01016 - DMD:c.8027+11C>T chrX 31435751 31435753 DMD_01017 - DMD:c.8027+11_8027+12insT chrX 31435680 31435681 DMD_01523 - DMD:c.8027+83delT chrX 31435444 31435445 DMD_01524 - DMD:c.8027+319T>G chrX 31405677 31405678 DMD_00951 - DMD:c.8028-42C>G chrX 31405625 31405626 DMD_00550 - DMD:c.8038C>T chrX 31405608 31405609 DMD_01045 - DMD:c.8055A>G chrX 31405598 31405600 DMD_01200 - DMD:c.8064_8065del chrX 31405594 31405595 DMD_01835 - DMD:c.8069T>G chrX 31405589 31405590 DMD_01282 - DMD:c.8074C>T chrX 31405577 31405578 DMD_00161 - DMD:c.8086delC chrX 31405577 31405578 DMD_01146 - DMD:c.8086dupC chrX 31405565 31405566 DMD_00154 - DMD:c.8098A>T chrX 31405547 31405548 DMD_01300 - DMD:c.8116dupA chrX 31405496 31405497 DMD_00607 - DMD:c.8167delA chrX 31405478 31405480 DMD_01103 - DMD:c.8174_8184dup8184_8185insTAGAAGGCTCCTAG chrX 31405487 31405488 DMD_00162 - DMD:c.8176G>T chrX 31405449 31405450 DMD_00740 - DMD:c.8214G>A chrX 31405446 31405447 DMD_01782 - DMD:c.8217dupA chrX 31405445 31405446 DMD_01827 - DMD:c.8217+1G>C chrX 31405441 31405442 DMD_01880 - DMD:c.8217+5G>A chrX 31393748 31393749 DMD_00827 - DMD:c.8217+11698C>T chrX 31364892 31364893 DMD_00826 - DMD:c.8217+40554C>T chrX 31356623 31356624 DMD_00825 - DMD:c.8217+48823G>A chrX 31305721 31305722 DMD_00824 - DMD:c.8218-20495G>A chrX 31291211 31291212 DMD_00823 - DMD:c.8218-5985G>T chrX 31286579 31286580 DMD_01525 - DMD:c.8218-1353A>G chrX 31286295 31286296 DMD_01526 - DMD:c.8218-1069G>A chrX 31286282 31286283 DMD_01527 - DMD:c.8218-1056delA chrX 31285856 31285857 DMD_01528 - DMD:c.8218-630G>A chrX 31285228 31285229 DMD_01083 - DMD:c.8218-2A>G chrX 31285225 31285226 DMD_01202 - DMD:c.8219A>G chrX 31285185 31285186 DMD_01269 - DMD:c.8259delC chrX 31285177 31285178 DMD_00754 - DMD:c.8267delA chrX 31285175 31285176 DMD_00219 - DMD:c.8269G>T chrX 31285157 31285158 DMD_00432 - DMD:c.8287delC chrX 31285133 31285134 DMD_00753 - DMD:c.8311delG chrX 31285122 31285123 DMD_01529 - DMD:c.8322G>T chrX 31285118 31285119 DMD_01843 - DMD:c.8326C>T chrX 31285087 31285088 DMD_00209 - DMD:c.8357G>A chrX 31285073 31285074 DMD_01172 - DMD:c.8371A>T chrX 31285070 31285071 DMD_01842 - DMD:c.8374A>T chrX 31285069 31285071 DMD_01249 - DMD:c.8374_8375del chrX 31285056 31285057 DMD_01283 - DMD:c.8388delT chrX 31285054 31285055 DMD_00433 - DMD:c.8390G>C chrX 31285053 31285054 DMD_01332 - DMD:c.8390+1G>C chrX 31285052 31285053 DMD_01084 - DMD:c.8390+2T>C chrX 31284880 31284881 DMD_01530 - DMD:c.8390+174T>C chrX 31284632 31284633 DMD_01531 - DMD:c.8390+422C>T chrX 31284611 31284612 DMD_01532 - DMD:c.8390+443G>A chrX 31275004 31275005 DMD_00822 - DMD:c.8391-287T>C chrX 31274718 31274719 DMD_00019 - DMD:c.8391-1G>C chrX 31274706 31274717 DMD_00717 - DMD:c.8392_8402del chrX 31274702 31274703 DMD_01218 - DMD:c.8406delC chrX 31274692 31274693 DMD_01270 - DMD:c.8416C>T chrX 31274688 31274689 DMD_01722 - DMD:c.8420G>A chrX 31274670 31274671 DMD_01219 - DMD:c.8438delC chrX 31274665 31274666 DMD_00168 - DMD:c.8443C>T chrX 31274648 31274649 DMD_01025 - DMD:c.8460G>A chrX 31274644 31274645 DMD_01333 - DMD:c.8464C>T chrX 31274643 31274644 DMD_01190 - DMD:c.8465delA chrX 31274617 31274618 DMD_01173 - DMD:c.8491C>T chrX 31274594 31274595 DMD_00222 - DMD:c.8514dupT chrX 31274408 31274409 DMD_01533 - DMD:c.8547+153C>T chrX 31274336 31274337 DMD_01534 - DMD:c.8547+225A>T chrX 31274267 31274268 DMD_01535 - DMD:c.8547+294T>G chrX 31270259 31270260 DMD_00821 - DMD:c.8547+4302C>T chrX 31257126 31257127 DMD_01536 - DMD:c.8548-250A>G chrX 31257125 31257126 DMD_01537 - DMD:c.8548-249T>C chrX 31257057 31257058 DMD_01538 - DMD:c.8548-181T>C chrX 31257025 31257026 DMD_01539 - DMD:c.8548-149A>G chrX 31256878 31256879 DMD_01128 - DMD:c.8548-2A>G chrX 31256818 31256820 DMD_00441 - DMD:c.8605_8606del chrX 31256816 31256817 DMD_00434 - DMD:c.8608C>T chrX 31256771 31256773 DMD_00136 - DMD:c.8652_8653del chrX 31256769 31256770 DMD_00718 - DMD:c.8655C>A chrX 31256756 31256757 DMD_00151 - DMD:c.8668G>A chrX 31256547 31256548 DMD_01540 - DMD:c.8668+209C>T chrX 31258456 31258457 DMD_00820 - DMD:c.8548-1580A>G chrX 31256318 31256319 DMD_01541 - DMD:c.8669-171A>C chrX 31256232 31256233 DMD_01542 - DMD:c.8669-85C>T chrX 31256222 31256223 DMD_01543 - DMD:c.8669-75C>G chrX 31256148 31256149 DMD_01858 - DMD:c.8669-1G>T chrX 31256130 31256131 DMD_00341 - DMD:c.8686A>T chrX 31256124 31256125 DMD_01742 - DMD:c.8692C>T chrX 31256103 31256104 DMD_00140 - DMD:c.8713C>T chrX 31256088 31256089 DMD_01723 - DMD:c.8728G>T chrX 31256087 31256088 DMD_00382 - DMD:c.8729A>T chrX 31256082 31256088 DMD_00949 - DMD:c.8729_8734delinsGGGTCG chrX 31256082 31256088 DMD_00061 - DMD:c.8729_8734delinsTGGTCG chrX 31256082 31256083 DMD_01054 - DMD:c.8734A>G chrX 31256071 31256072 DMD_01767 - DMD:c.8745G>A chrX 31256065 31256066 DMD_00435 - DMD:c.8751dupA chrX 31256062 31256063 DMD_00189 - DMD:c.8754delG chrX 31256054 31256055 DMD_01060 - DMD:c.8762A>G chrX 31256042 31256043 DMD_01284 - DMD:c.8774G>A chrX 31256041 31256042 DMD_01026 - DMD:c.8775G>A chrX 31256031 31256032 DMD_00223 - DMD:c.8785dupA chrX 31256025 31256026 DMD_00191 - DMD:c.8791G>T chrX 31256008 31256010 DMD_00363 - DMD:c.8807_8808del chrX 31256006 31256007 DMD_01055 - DMD:c.8810A>G chrX 31255983 31256000 DMD_00436 - DMD:c.8817_8833delinsCA8834_8860dupinsGACCTCA chrX 31255983 31255984 DMD_01544 - DMD:c.8833G>C chrX 31255937 31255938 DMD_01872 - DMD:c.8879G>A chrX 31255918 31255920 DMD_01652 - DMD:c.8897_8898dup chrX 31255911 31255912 DMD_00252 - DMD:c.8905delG chrX 31255903 31255905 DMD_01783 - DMD:c.8912_8913dup chrX 31255902 31255903 DMD_00155 - DMD:c.8914C>T chrX 31255602 31255604 DMD_00632 - DMD:c.8937+276(GT)14_19 chrX 31226650 31226651 DMD_00819 - DMD:c.8938-4250T>C chrX 31222831 31222832 DMD_01548 - DMD:c.8938-431G>A chrX 31222409 31222410 DMD_00202 - DMD:c.8938-9T>A chrX 31222394 31222395 DMD_00005 - DMD:c.8944C>T chrX 31222391 31222392 DMD_01841 - DMD:c.8947G>T chrX 31222350 31222351 DMD_01046 - DMD:c.8988T>C chrX 31222337 31222338 DMD_01195 - DMD:c.9001C>T chrX 31222307 31222308 DMD_01115 - DMD:c.9031C>T chrX 31222297 31222304 DMD_01110 - DMD:c.9035_9041del chrX 31222266 31222267 DMD_00127 - DMD:c.9072G>A chrX 31222256 31222257 DMD_01174 - DMD:c.9082C>T chrX 31222188 31222189 DMD_00320 - DMD:c.9084+66A>C chrX 31215012 31215013 DMD_00818 - DMD:c.9084+7242G>T chrX 31202604 31202605 DMD_00817 - DMD:c.9084+19650A>G chrX 31153146 31153147 DMD_00764 - DMD:c.9085-26739G>T chrX 31142928 31142929 DMD_00816 - DMD:c.9085-16521A>G chrX 31141926 31141927 DMD_00936 - DMD:c.9085-15519G>T chrX 31136544 31136545 DMD_00815 - DMD:c.9085-10137G>C chrX 31136137 31136138 DMD_00814 - DMD:c.9085-9730C>A chrX 31126838 31126839 DMD_01549 - DMD:c.9085-431T>C chrX 31126445 31126446 DMD_01385 - DMD:c.9085-38delA chrX 31126402 31126403 DMD_00208 - DMD:c.9090delC chrX 31126392 31126393 DMD_01087 - DMD:c.9100C>T chrX 31126383 31126384 DMD_01285 - DMD:c.9109C>T chrX 31126359 31126367 DMD_00249 - DMD:c.9126_9133dup chrX 31126357 31126358 DMD_00392 - DMD:c.9135delT chrX 31126344 31126345 DMD_01074 - DMD:c.9148C>T chrX 31126336 31126337 DMD_01768 - DMD:c.9156dupT chrX 31126331 31126335 DMD_00755 - DMD:c.9158_9161del chrX 31126328 31126329 DMD_01663 - DMD:c.9163+1G>A chrX 31126140 31126141 DMD_01550 - DMD:c.9163+189G>T chrX 31123161 31123162 DMD_00813 - DMD:c.9163+3168T>C chrX 31101576 31101577 DMD_01551 - DMD:c.9164-145A>G chrX 31101426 31101446 DMD_00205 - DMD:c.9164-14_9169del chrX 31101423 31101431 DMD_00170 - DMD:c.9165_9172dup chrX 31101419 31101420 DMD_01105 - DMD:c.9176delG chrX 31101419 31101420 DMD_01653 - DMD:c.9176G>A chrX 31101413 31101414 DMD_01334 - DMD:c.9182G>A chrX 31101412 31101413 DMD_00233 - DMD:c.9183G>A chrX 31101398 31101399 DMD_00064 - DMD:c.9197C>A chrX 31101388 31101392 DMD_00228 - DMD:c.9204_9207del chrX 31101370 31101371 DMD_00720 - DMD:c.9224+1G>A chrX 31101370 31101371 DMD_00282 - DMD:c.9224+1G>T chrX 31101366 31101367 DMD_00217 - DMD:c.9224+5G>C chrX 31101107 31101108 DMD_01552 - DMD:c.9224+264T>A chrX 31091950 31091951 DMD_00700 - DMD:c.9224+9421G>A chrX 31091914 31091915 DMD_00701 - DMD:c.9224+9457G>T chrX 31082999 31083000 DMD_00702 - DMD:c.9224+18372C>T chrX 31080674 31080675 DMD_00812 - DMD:c.9224+20697T>A chrX 31080548 31080549 DMD_00811 - DMD:c.9224+20823G>A chrX 31076291 31076292 DMD_00810 - DMD:c.9224+25080A>C chrX 31073818 31073819 DMD_00703 - DMD:c.9224+27553A>G chrX 31063525 31063526 DMD_00704 - DMD:c.9225-24736A>G chrX 31062376 31062379 DMD_01206 - DMD:c.9225-23589(GAA)9_27 chrX 31052266 31052267 DMD_00705 - DMD:c.9225-13477T>A chrX 31049929 31049930 DMD_00706 - DMD:c.9225-11140T>C chrX 31049600 31049601 DMD_00707 - DMD:c.9225-10811A>G chrX 31049542 31049543 DMD_00708 - DMD:c.9225-10753A>G chrX 31039464 31039465 DMD_01114 - DMD:c.9225-675A>G chrX 31039436 31039437 DMD_00937 - DMD:c.9225-647A>G chrX 31039076 31039077 DMD_01553 - DMD:c.9225-287C>A chrX 31039074 31039075 DMD_00521 - DMD:c.9225-285A>G chrX 31038927 31038928 DMD_01554 - DMD:c.9225-138A>G chrX 31038790 31038791 DMD_01750 - DMD:c.9225-1G>A chrX 31038752 31038753 DMD_01129 - DMD:c.9262delA chrX 31038730 31038731 DMD_01821 - DMD:c.9284T>G chrX 31038726 31038727 DMD_00348 - DMD:c.9286+2T>A chrX 31037668 31037669 DMD_00709 - DMD:c.9286+1060T>C chrX 31030130 31030131 DMD_00809 - DMD:c.9286+8598C>A chrX 31030100 31030101 DMD_00710 - DMD:c.9286+8628C>T chrX 31028036 31028037 DMD_00711 - DMD:c.9286+10692G>C chrX 31022020 31022021 DMD_00808 - DMD:c.9286+16708G>A chrX 31020593 31020594 DMD_00712 - DMD:c.9286+18135A>G chrX 31020506 31020508 DMD_00631 - DMD:c.9286+18221(CA)16_21 chrX 31019188 31019189 DMD_00713 - DMD:c.9287-18294G>T chrX 31017440 31017441 DMD_00807 - DMD:c.9287-16546T>C chrX 31007238 31007239 DMD_00806 - DMD:c.9287-6344G>A chrX 31005708 31005709 DMD_00714 - DMD:c.9287-4814C>A chrX 31003185 31003187 DMD_00465 - DMD:c.9287-2292_9287-2291delinsGA, t(X;2)(p21.2;q37.3) chrX 31001396 31001397 DMD_01555 - DMD:c.9287-502A>C chrX 31001395 31001396 DMD_01556 - DMD:c.9287-501T>C chrX 31000896 31000897 DMD_01664 - DMD:c.9287-2A>G chrX 31000890 31000891 DMD_00958 - DMD:c.9291C>T chrX 31000861 31000863 DMD_01749 - DMD:c.9319_9320insAA chrX 31000848 31000849 DMD_00349 - DMD:c.9333delA chrX 31000844 31000845 DMD_00239 - DMD:c.9337C>T chrX 31000835 31000836 DMD_00285 - DMD:c.9346C>T chrX 31000821 31000822 DMD_01765 - DMD:c.9360C>A chrX 31000820 31000821 DMD_00514 - DMD:c.9361dupT chrX 31000819 31000820 DMD_00770 - DMD:c.9361+1delG chrX 31000819 31000820 DMD_01336 - DMD:c.9361+1G>A chrX 31000815 31000816 DMD_00232 - DMD:c.9361+5G>C chrX 31000806 31000807 DMD_01130 - DMD:c.9361+14A>G chrX 31000682 31000683 DMD_01061 - DMD:c.9361+138T>C chrX 31000561 31000562 DMD_01557 - DMD:c.9361+259G>T chrX 31000456 31000457 DMD_01558 - DMD:c.9361+364A>G chrX 30987541 30987542 DMD_00953 - DMD:c.9362-69G>A chrX 30987473 30987474 DMD_00261 - DMD:c.9362-1G>A chrX 30987470 30987471 DMD_00408 - DMD:c.9364delG chrX 30987454 30987455 DMD_00430 - DMD:c.9380C>G chrX 30987431 30987432 DMD_01724 - DMD:c.9403C>T chrX 30987407 30987408 DMD_00437 - DMD:c.9427C>T chrX 30987402 30987403 DMD_00169 - DMD:c.9432delC chrX 30987389 30987390 DMD_00308 - DMD:c.9445C>T chrX 30987377 30987381 DMD_01865 - DMD:c.9454_9457del chrX 30987372 30987376 DMD_01193 - DMD:c.9459_9462del chrX 30987373 30987374 DMD_01286 - DMD:c.9461T>A chrX 30987360 30987364 DMD_00065 - DMD:c.9471_9474del chrX 30987315 30987316 DMD_00955 - DMD:c.9519C>A chrX 30987283 30987284 DMD_00726 - DMD:c.9551dupA chrX 30987274 30987275 DMD_01797 - DMD:c.9560A>G chrX 30987270 30987271 DMD_00066 - DMD:c.9563+1G>A chrX 30987203 30987204 DMD_01559 - DMD:c.9563+68G>A chrX 30987078 30987079 DMD_01560 - DMD:c.9563+193T>C chrX 30986056 30986057 DMD_01743 - DMD:c.9563+1215A>G chrX 30984867 30984868 DMD_01840 - DMD:c.9564-427T>G chrX 30984727 30984728 DMD_01561 - DMD:c.9564-287T>C chrX 30984726 30984727 DMD_01562 - DMD:c.9564-286G>A chrX 30984650 30984651 DMD_01563 - DMD:c.9564-210T>C chrX 30984537 30984538 DMD_01564 - DMD:c.9564-97C>T chrX 30984470 30984471 DMD_01665 - DMD:c.9564-30A>T chrX 30984442 30984443 DMD_00532 - DMD:c.9564-2A>T chrX 30984436 30984437 DMD_00240 - DMD:c.9568C>T chrX 30984400 30984413 DMD_00206 - DMD:c.9592_9604dup chrX 30984407 30984408 DMD_01825 - DMD:c.9597delT chrX 30984403 30984405 DMD_00234 - DMD:c.9600_9601del chrX 30984385 30984386 DMD_01379 - DMD:c.9619T>C chrX 30984378 30984386 DMD_00214 - DMD:c.9619_9626del chrX 30984364 30984365 DMD_01834 - DMD:c.9640A>T chrX 30984363 30984365 DMD_01255 - DMD:c.9640_9641del chrX 30984354 30984355 DMD_00224 - DMD:c.9649+1G>A chrX 30984353 30984354 DMD_00210 - DMD:c.9649+2T>C chrX 30984350 30984351 DMD_00220 - DMD:c.9649+5G>T chrX 30984269 30984270 DMD_01565 - DMD:c.9649+86A>T chrX 30982233 30982234 DMD_00805 - DMD:c.9650-342A>G chrX 30982164 30982165 DMD_01566 - DMD:c.9650-273G>A chrX 30981955 30981956 DMD_01295 - DMD:c.9650-64C>T chrX 30981888 30981895 DMD_00541 - DMD:c.9650-3_9653del chrX 30981890 30981891 DMD_01746 - DMD:c.9651C>A chrX 30981886 30981887 DMD_00608 - DMD:c.9655T>C chrX 30981878 30981879 DMD_01727 - DMD:c.9663delA chrX 30981859 30981860 DMD_00560 - DMD:c.9682T>C chrX 30981850 30981851 DMD_01728 - DMD:c.9691C>T chrX 30981802 30981803 DMD_01064 - DMD:c.9739C>T chrX 30981793 30981794 DMD_00342 - DMD:c.9748G>T chrX 30981737 30981738 DMD_01752 - DMD:c.9804A>G chrX 30981734 30981736 DMD_00621 - DMD:c.9806_9807dup chrX 30981733 30981734 DMD_01337 - DMD:c.9807+1G>C chrX 30981730 30981731 DMD_00275 - DMD:c.9807+4delA chrX 30981729 30981730 DMD_00385 - DMD:c.9807+5G>A chrX 30981516 30981517 DMD_01567 - DMD:c.9807+218C>G chrX 30981311 30981312 DMD_01568 - DMD:c.9807+423dupT chrX 30978400 30978401 DMD_00804 - DMD:c.9807+3334T>C chrX 30978171 30978172 DMD_00803 - DMD:c.9807+3563C>T chrX 30977902 30977903 DMD_00802 - DMD:c.9807+3832C>T chrX 30965559 30965561 DMD_01207 - DMD:c.9808-4883CT(17_36) chrX 30960678 30960679 DMD_01666 - DMD:c.9808-1G>A chrX 30960671 30960673 DMD_01380 - DMD:c.9813_9814del chrX 30960663 30960664 DMD_00221 - DMD:c.9822dupA chrX 30960653 30960654 DMD_01073 - DMD:c.9832dupG chrX 30960622 30960632 DMD_00241 - DMD:c.9854_9863del chrX 30960623 30960624 DMD_01287 - DMD:c.9862G>T chrX 30960604 30960606 DMD_01165 - DMD:c.9880_9881dup chrX 30960603 30960604 DMD_00302 - DMD:c.9882G>A chrX 30960587 30960589 DMD_00611 - DMD:c.9897_9898del chrX 30960569 30960570 DMD_00231 - DMD:c.9916delA chrX 30960557 30960558 DMD_01086 - DMD:c.9928C>T chrX 30960551 30960552 DMD_01655 - DMD:c.9934A>G chrX 30960547 30960548 DMD_00551 - DMD:c.9938G>T chrX 30960544 30960548 DMD_01338 - DMD:c.9938_9941dup chrX 30960530 30960531 DMD_00759 - DMD:c.9955T>C chrX 30960510 30960511 DMD_01744 - DMD:c.9974+1G>T chrX 30960509 30960510 DMD_00006 - DMD:c.9974+2T>A chrX 30960508 30960509 DMD_00600 - DMD:c.9974+3A>T chrX 30960498 30960499 DMD_01031 - DMD:c.9974+13A(9_10) chrX 30960488 30960489 DMD_01569 - DMD:c.9974+23delT chrX 30958714 30958715 DMD_01570 - DMD:c.9975-460A>G chrX 30958333 30958334 DMD_01571 - DMD:c.9975-79G>A chrX 30958256 30958257 DMD_01818 - DMD:c.9975-2A>G chrX 30958251 30958252 DMD_01340 - DMD:c.9978C>G chrX 30958243 30958244 DMD_00235 - DMD:c.9986delT chrX 30958226 30958227 DMD_01798 - DMD:c.10003G>A chrX 30958226 30958227 DMD_00307 - DMD:c.10003G>C chrX 30958220 30958221 DMD_01656 - DMD:c.10009T>C chrX 30958214 30958215 DMD_01657 - DMD:c.10015delA chrX 30958210 30958211 DMD_00026 - DMD:c.10019G>A chrX 30958209 30958210 DMD_01288 - DMD:c.10020delC chrX 30958202 30958203 DMD_00259 - DMD:c.10027dupT chrX 30958196 30958197 DMD_00242 - DMD:c.10033C>T chrX 30958157 30958158 DMD_00343 - DMD:c.10072G>T chrX 30958152 30958153 DMD_01799 - DMD:c.10077T>A chrX 30958142 30958143 DMD_00229 - DMD:c.10086+1G>A chrX 30958142 30958143 DMD_00062 - DMD:c.10086+1G>T chrX 30958141 30958142 DMD_01667 - DMD:c.10086+2T>A chrX 30958141 30958142 DMD_01339 - DMD:c.10086+2T>C chrX 30958138 30958139 DMD_00215 - DMD:c.10086+5G>C chrX 30957860 30957861 DMD_01572 - DMD:c.10086+283T>C chrX 30956580 30956581 DMD_01155 - DMD:c.10087-2A>T chrX 30956936 30956937 DMD_01573 - DMD:c.10087-358A>C chrX 30956602 30956603 DMD_00314 - DMD:c.10087-24A>G chrX 30956598 30956599 DMD_01117 - DMD:c.10087-20C>T chrX 30956577 30956578 DMD_00226 - DMD:c.10088delC chrX 30956571 30956572 DMD_00368 - DMD:c.10094C>A chrX 30956562 30956565 DMD_00283 - DMD:c.10101_10103del chrX 30956563 30956564 DMD_01730 - DMD:c.10102G>C chrX 30956557 30956558 DMD_00007 - DMD:c.10108C>T chrX 30956544 30956545 DMD_00438 - DMD:c.10121delA chrX 30956539 30956540 DMD_00063 - DMD:c.10126delC chrX 30956532 30956533 DMD_00439 - DMD:c.10133delA chrX 30956532 30956533 DMD_00244 - DMD:c.10133dupA chrX 30956528 30956532 DMD_00284 - DMD:c.10134_10137del chrX 30956530 30956531 DMD_01670 - DMD:c.10135A>T chrX 30956524 30956525 DMD_00067 - DMD:c.10141C>T chrX 30956494 30956495 DMD_00243 - DMD:c.10171C>T chrX 30956494 30956495 DMD_01766 - DMD:c.10171dupC chrX 30956479 30956487 DMD_01131 - DMD:c.10179_10186delinsTCTAAGA chrX 30956479 30956480 DMD_00758 - DMD:c.10186C>T chrX 30956463 30956464 DMD_00173 - DMD:c.10202T>G chrX 30956462 30956463 DMD_00719 - DMD:c.10203delA chrX 30956457 30956462 DMD_00771 - DMD:c.10204_10208del chrX 30956460 30956461 DMD_01220 - DMD:c.10205delA chrX 30956441 30956442 DMD_00068 - DMD:c.10223+1G>A chrX 30956441 30956442 DMD_00157 - DMD:c.10223+1G>C chrX 30956440 30956441 DMD_00237 - DMD:c.10223+2dupT chrX 30956439 30956440 DMD_01196 - DMD:c.10223+3del chrX 30956439 30956440 DMD_01085 - DMD:c.10223+3G>A chrX 30956439 30956440 DMD_00238 - DMD:c.10223+3G>C chrX 30956437 30956438 DMD_00069 - DMD:c.10223+5G>C chrX 30956300 30956301 DMD_01574 - DMD:c.10223+142T>C chrX 30955738 30955743 DMD_01671 - DMD:c.10225_10229del chrX 30955740 30955741 DMD_01201 - DMD:c.10227dupC chrX 30955736 30955737 DMD_01672 - DMD:c.10231dupA chrX 30955705 30955706 DMD_00070 - DMD:c.10262C>T chrX 30955007 30955008 DMD_00801 - DMD:c.10262+698C>G chrX 30951788 30951789 DMD_01575 - DMD:c.10263-411C>T chrX 30951361 30951362 DMD_00344 - DMD:c.10279C>T chrX 30951336 30951337 DMD_00207 - DMD:c.10304C>A chrX 30950933 30950934 DMD_01577 - DMD:c.10328+379C>T chrX 30950811 30950812 DMD_01578 - DMD:c.10328+501T>C chrX 30950147 30950148 DMD_01205 - DMD:c.10368delT chrX 30950128 30950129 DMD_01271 - DMD:c.10387G>T chrX 30949991 30949992 DMD_01579 - DMD:c.10394+130T>G chrX 30947552 30947553 DMD_01580 - DMD:c.10395-178G>A chrX 30947417 30947418 DMD_01581 - DMD:c.10395-43delA chrX 30947406 30947407 DMD_00779 - DMD:c.10395-32A>G chrX 30947362 30947364 DMD_01341 - DMD:c.10406_10407del chrX 30947357 30947358 DMD_00350 - DMD:c.10412T>A chrX 30947316 30947317 DMD_00289 - DMD:c.10453delC chrX 30947316 30947317 DMD_01629 - DMD:c.10453dupC chrX 30947315 30947317 DMD_00225 - DMD:c.10453_10454del chrX 30947315 30947316 DMD_00213 - DMD:c.10454delT chrX 30947292 30947293 DMD_00211 - DMD:c.10477C>T chrX 30947292 30947293 DMD_00071 - DMD:c.10477delC chrX 30947278 30947286 DMD_00072 - DMD:c.10484_10491delinsG chrX 30947270 30947272 DMD_00269 - DMD:c.10498_10499del chrX 30947265 30947266 DMD_01230 - DMD:c.10504G>T chrX 30947262 30947263 DMD_01634 - DMD:c.10507delA chrX 30947259 30947261 DMD_00230 - DMD:c.10509_10510del chrX 30947256 30947259 DMD_01342 - DMD:c.10511_10513dup chrX 30947226 30947227 DMD_00277 - DMD:c.10543G>T chrX 30937094 30937095 DMD_00800 - DMD:c.10553+10122G>A chrX 30934966 30934967 DMD_00799 - DMD:c.10554-9675C>T chrX 30934650 30934651 DMD_00798 - DMD:c.10554-9359C>T chrX 30925458 30925459 DMD_01582 - DMD:c.10554-167A>G chrX 30925324 30925328 DMD_00780 - DMD:c.10554-36_10554-33del chrX 30925324 30925328 DMD_01354 - DMD:c.10554-36_10554-33dup chrX 30925293 30925294 DMD_00236 - DMD:c.10554-2A>G chrX 30925282 30925283 DMD_00218 - DMD:c.10563delA chrX 30925273 30925274 DMD_01784 - DMD:c.10572T>A chrX 30925257 30925258 DMD_01788 - DMD:c.10588C>T chrX 30925243 30925244 DMD_00449 - DMD:c.10602dupA chrX 30925239 30925240 DMD_00531 - DMD:c.10606delC chrX 30925236 30925237 DMD_01289 - DMD:c.10609delT chrX 30925123 30925124 DMD_01731 - DMD:c.10722delC chrX 30925080 30925081 DMD_01785 - DMD:c.10765C>T chrX 30925076 30925077 DMD_01833 - DMD:c.10769T>A chrX 30925058 30925059 DMD_01800 - DMD:c.10787delT chrX 30925056 30925057 DMD_01019 - DMD:c.10789C>T chrX 30925006 30925007 DMD_01583 - DMD:c.10797+42C>G chrX 30924966 30924967 DMD_01584 - DMD:c.10797+82G>A chrX 30924913 30924914 DMD_01585 - DMD:c.10797+135A>G chrX 30924376 30924377 DMD_01586 - DMD:c.10798-189T>C chrX 30924358 30924359 DMD_01587 - DMD:c.10798-171T>A chrX 30924297 30924298 DMD_01588 - DMD:c.10798-110A>C chrX 30924287 30924288 DMD_01589 - DMD:c.10798-100G>C chrX 30924173 30924174 DMD_01290 - DMD:c.10812delC chrX 30924112 30924113 DMD_01109 - DMD:c.10873C>T chrX 30924082 30924083 DMD_00216 - DMD:c.10903C>T chrX 30924075 30924076 DMD_01673 - DMD:c.10910C>A chrX 30924036 30924037 DMD_01590 - DMD:c.10921+28T>C chrX 30923881 30923882 DMD_01591 - DMD:c.10921+183A>G chrX 30923828 30923829 DMD_01592 - DMD:c.10921+236C>T chrX 30912195 30912196 DMD_01593 - DMD:c.10922-228delA chrX 30911969 30911970 DMD_01668 - DMD:c.10922-2A>G chrX 30911920 30911921 DMD_00345 - DMD:c.10969G>T chrX 30904597 30904598 DMD_01594 - DMD:c.11015-151T>G chrX 30904577 30904578 DMD_01595 - DMD:c.11015-131delT chrX 30904490 30904491 DMD_01596 - DMD:c.11015-44delT chrX 30904455 30904456 DMD_01811 - DMD:c.11015-9T>A chrX 30904443 30904444 DMD_01597 - DMD:c.11018G>A chrX 30904296 30904297 DMD_01598 - DMD:c.11046+119A>G chrX 30901950 30901951 DMD_01599 - DMD:c.11047-2247T>G chrX 30900834 30900835 DMD_01600 - DMD:c.11047-1131T>G chrX 30899952 30899953 DMD_00797 - DMD:c.11047-249A>T chrX 30899788 30899789 DMD_01601 - DMD:c.11047-85G>T chrX 30899744 30899745 DMD_01368 - DMD:c.11047-41A>T chrX 30899663 30899676 DMD_00960 - DMD:c.*17_*29del chrX 30899654 30899655 DMD_00440 - DMD:c.*38G>A chrX 30899523 30899524 DMD_00545 - DMD:c.*169A>C chrX 30899219 30899220 DMD_01602 - DMD:c.*473C>T chrX 30899215 30899216 DMD_01603 - DMD:c.*477delT chrX 30899212 30899216 DMD_00166 - DMD:c.*477_*480dup chrX 30899208 30899216 DMD_01296 - DMD:c.*477_*484del chrX 30899203 30899204 DMD_01604 - DMD:c.*489C>T chrX 30898746 30898751 DMD_01353 - DMD:c.*942(AAGTA)2_3 chrX 30898724 30898725 DMD_01605 - DMD:c.*968dupT chrX 30898656 30898660 DMD_01301 - DMD:c.*1033(TGAT)5_6 chrX 30898644 30898647 DMD_01606 - DMD:c.*1046_*1048dup chrX 30898643 30898644 DMD_01607 - DMD:c.*1049delT chrX 30898640 30898644 DMD_01297 - DMD:c.*1049_*1052dup chrX 30898245 30898246 DMD_00784 - DMD:c.*1447A>G chrX 30898135 30898139 DMD_01352 - DMD:c.*1554(TAAG)3_4 chrX 30898101 30898106 DMD_01608 - DMD:c.*1587_*1591dup chrX 30897933 30897934 DMD_01609 - DMD:c.*1759delT chrX 30897930 30897931 DMD_01610 - DMD:c.*1762delA chrX 30897537 30897554 DMD_01160 - DMD:c.*2139_*2155dup chrX 30897463 30897467 DMD_01611 - DMD:c.*2226(AAGT)3_4 chrX 30897440 30897441 DMD_01813 - DMD:c.*2252A>G chrX 30896931 30896935 DMD_01298 - DMD:c.*2758_*2761del chrX 30896926 30896927 DMD_01612 - DMD:c.*2766delT chrX 30866355 30866356 DMD_00796 - DMD:c.*33337A>T chrX 30862761 30862762 DMD_00795 - DMD:c.*36931T>A chrX 30862607 30862608 DMD_00794 - DMD:c.*37085A>C chrX 30807270 30807271 DMD_00793 - DMD:c.*92422A>G chrX 30767140 30767141 DMD_00792 - DMD:c.*132552G>A chr18 30628211 30628212 DTNA_00001 + DTNA:c.362C>T chr2 71619664 71619665 DYSF_00114 + DYSF:c.89-3T>C chr2 71619667 71650706 DYSF_00251 + DYSF:c.89-?_457+?del chr2 71619683 71619684 DYSF_00184 + DYSF:c.105delC chr2 71619685 71619687 DYSF_00037 + DYSF:c.107_108del chr2 71620513 71620517 DYSF_00156 + DYSF:c.145-181_145-150CCAT(8) chr2 71620672 71620673 DYSF_00305 + DYSF:c.154T>C chr2 71620682 71620684 DYSF_00010 + DYSF:c.164_165insA chr2 71620718 71620720 DYSF_00071 + DYSF:c.200_201delinsAT chr2 71642008 71642009 DYSF_00169 + DYSF:c.247delG chr2 71642026 71642027 DYSF_00187 + DYSF:c.265C>T chr2 71642074 71642075 DYSF_00240 + DYSF:c.313dupC chr2 71642092 71642093 DYSF_00246 + DYSF:c.331C>T chr2 71650601 71650602 DYSF_00128 + DYSF:c.353delT chr2 71650631 71650632 DYSF_00060 + DYSF:c.383G>A chr2 71650641 71650642 DYSF_00119 + DYSF:c.393C>T chr2 71650706 71650707 DYSF_00334 + DYSF:c.457+1dupG chr2 71650707 71650708 DYSF_00195 + DYSF:c.457+2T>G chr2 71650722 71650723 DYSF_00272 + DYSF:c.457+17G>C chr2 71652505 71652506 DYSF_00335 + DYSF:c.463G>A chr2 71652546 71652547 DYSF_00061 + DYSF:c.504T>C chr2 71652551 71652552 DYSF_00117 + DYSF:c.509C>A chr2 71652568 71652569 DYSF_00264 + DYSF:c.526C>T chr2 71652581 71652582 DYSF_00286 + DYSF:c.539dupC chr2 71652586 71652587 DYSF_00046 + DYSF:c.544dupG chr2 71652607 71652608 DYSF_00031 + DYSF:c.565C>G chr2 71652633 71652634 DYSF_00336 + DYSF:c.591C>G chr2 71652635 71652637 DYSF_00297 + DYSF:c.593_594dup chr2 71652652 71652653 DYSF_00064 + DYSF:c.610C>T chr2 71652706 71652707 DYSF_00135 + DYSF:c.663+1G>C chr2 71654400 71654413 DYSF_00171 + DYSF:c.664-7_669del chr2 71654434 71654435 DYSF_00139 + DYSF:c.691C>T chr2 71654444 71654445 DYSF_00306 + DYSF:c.701G>A chr2 71654500 71654501 DYSF_00205 + DYSF:c.757C>T chr2 71654506 71654507 DYSF_00248 + DYSF:c.763delC chr2 71654546 71654547 DYSF_00273 + DYSF:c.792+11T>C chr2 71654896 71654897 DYSF_00274 + DYSF:c.793-68G>A chr2 71654967 71654969 DYSF_00357 + DYSF:c.796_797del chr2 71654968 71654969 DYSF_00206 + DYSF:c.797T>C chr2 71654970 71654972 DYSF_00337 + DYSF:c.799_800del chr2 71655022 71655023 DYSF_00338 + DYSF:c.851T>C chr2 71655027 71655028 DYSF_00207 + DYSF:c.855+1delG chr2 71655030 71655031 DYSF_00056 + DYSF:c.855+4T>C chr2 71655774 71655775 DYSF_00296 + DYSF:c.857T>A chr2 71655780 71655781 DYSF_00186 + DYSF:c.863dupA chr2 71655796 71655801 DYSF_00339 + DYSF:c.879_883dup chr2 71655812 71655813 DYSF_00236 + DYSF:c.895G>A chr2 71655812 71655813 DYSF_00355 + DYSF:c.895G>C chr2 71655813 71655814 DYSF_00208 + DYSF:c.896G>A chr2 71658993 71658994 DYSF_00116 + DYSF:c.937+1G>A chr2 71659035 71659036 DYSF_00190 + DYSF:c.937+43delT chr2 71659505 71659506 DYSF_00275 + DYSF:c.938-68T>C chr2 71659509 71659510 DYSF_00276 + DYSF:c.938-64C>T chr2 71659553 71659554 DYSF_00277 + DYSF:c.938-20G>A chr2 71659577 71659578 DYSF_00145 + DYSF:c.942C>T chr2 71659693 71659694 DYSF_00259 + DYSF:c.1053+5G>A chr2 71659742 71659743 DYSF_00278 + DYSF:c.1053+54C>T chr2 71664961 71665010 DYSF_00191 + DYSF:c.1054-43_1059delinsA chr2 71665004 71665005 DYSF_00115 + DYSF:c.1054C>A chr2 71665014 71665016 DYSF_00312 + DYSF:c.1064_1065del chr2 71665070 71665071 DYSF_00039 + DYSF:c.1120G>C chr2 71665105 71665106 DYSF_00017 + DYSF:c.1155C>A chr2 71665107 71665119 DYSF_00313 + DYSF:c.1157_1168del chr2 71665115 71665116 DYSF_00118 + DYSF:c.1165G>C chr2 71665118 71665119 DYSF_00030 + DYSF:c.1168G>A chr2 71665126 71665127 DYSF_00052 + DYSF:c.1176G>A chr2 71665127 71665128 DYSF_00044 + DYSF:c.1177C>T chr2 71665128 71665135 DYSF_00287 + DYSF:c.1178_1180+4dup chr2 71665130 71665138 DYSF_00261 + DYSF:c.1180_1180+7del chr2 71665132 71665133 DYSF_00344 + DYSF:c.1180+2T>C chr2 71665135 71665136 DYSF_00045 + DYSF:c.1180+5G>A chr2 71665141 71665142 DYSF_00062 + DYSF:c.1180+11C>T chr2 71667034 71667035 DYSF_00124 + DYSF:c.1181-48A>G chr2 71667080 71667081 DYSF_00196 + DYSF:c.1181-2A>C chr2 71667087 71667088 DYSF_00032 + DYSF:c.1186G>C chr2 71667155 71667156 DYSF_00345 + DYSF:c.1254delC chr2 71667177 71667178 DYSF_00314 + DYSF:c.1276G>A chr2 71667178 71667179 DYSF_00185 + DYSF:c.1277G>T chr2 71667187 71667188 DYSF_00150 + DYSF:c.1284+2T>C chr2 71673874 71673875 DYSF_00301 + DYSF:c.1353+1G>A chr2 71673886 71673887 DYSF_00279 + DYSF:c.1353+13C>T chr2 71673964 71673965 DYSF_00280 + DYSF:c.1354-88A>G chr2 71674051 71674052 DYSF_00245 + DYSF:c.1354-1G>A chr2 71674055 71674056 DYSF_00307 + DYSF:c.1357C>T chr2 71674066 71674067 DYSF_00043 + DYSF:c.1368C>A chr2 71674066 71674067 DYSF_00209 + DYSF:c.1368C>G chr2 71674067 71674068 DYSF_00127 + DYSF:c.1369G>A chr2 71674077 71674080 DYSF_00262 + DYSF:c.1379_1381del chr2 71674090 71674091 DYSF_00210 + DYSF:c.1392dupA chr2 71677945 71677946 DYSF_00285 + DYSF:c.1402C>T chr2 71677956 71677957 DYSF_00201 + DYSF:c.1413delC chr2 71677991 71677992 DYSF_00238 + DYSF:c.1448C>A chr2 71678024 71678025 DYSF_00271 + DYSF:c.1480+1delG chr2 71688000 71688001 DYSF_00073 + DYSF:c.1481-134A>G chr2 71689722 71689723 DYSF_00074 + DYSF:c.1523-103G>A chr2 71689857 71689858 DYSF_00298 + DYSF:c.1555G>A chr2 71689868 71689869 DYSF_00131 + DYSF:c.1566C>G chr2 71689919 71689920 DYSF_00315 + DYSF:c.1617C>G chr2 71690394 71690395 DYSF_00242 + DYSF:c.1642delG chr2 71690407 71690421 DYSF_00316 + DYSF:c.1655_1668del chr2 71690415 71690416 DYSF_00211 + DYSF:c.1663C>T chr2 71690469 71690470 DYSF_00136 + DYSF:c.1717G>T chr2 71690483 71690484 DYSF_00250 + DYSF:c.1731G>A chr2 71690501 71690503 DYSF_00293 + DYSF:c.1749_1750insT chr2 71690506 71690507 DYSF_00166 + DYSF:c.1752+2T>A chr2 71691771 71691772 DYSF_00075 + DYSF:c.1753-24C>G chr2 71691800 71691801 DYSF_00137 + DYSF:c.1758C>A chr2 71691807 71691808 DYSF_00252 + DYSF:c.1765delA chr2 71691837 71691842 DYSF_00212 + DYSF:c.1795_1799dup chr2 71691855 71691856 DYSF_00001 + DYSF:c.1813C>T chr2 71691869 71691870 DYSF_00063 + DYSF:c.1827T>C chr2 71691876 71691877 DYSF_00053 + DYSF:c.1834C>T chr2 71691894 71691895 DYSF_00174 + DYSF:c.1852G>A chr2 71691902 71691903 DYSF_00146 + DYSF:c.1860C>T chr2 71691903 71691904 DYSF_00198 + DYSF:c.1861G>A chr2 71691915 71691916 DYSF_00311 + DYSF:c.1873G>T chr2 71691953 71691954 DYSF_00346 + DYSF:c.1911C>A chr2 71692475 71692476 DYSF_00076 + DYSF:c.1931-116T>C chr2 71692560 71692561 DYSF_00281 + DYSF:c.1931-31C>A chr2 71692608 71692609 DYSF_00317 + DYSF:c.1948delC chr2 71692636 71692637 DYSF_00189 + DYSF:c.1976dupT chr2 71692644 71692655 DYSF_00303 + DYSF:c.1984_1994del chr2 71692731 71692732 DYSF_00122 + DYSF:c.2055+16C>T chr2 71692765 71692766 DYSF_00077 + DYSF:c.2055+50A>G chr2 71693896 71693897 DYSF_00078 + DYSF:c.2056-853T>C chr2 71694418 71694419 DYSF_00079 + DYSF:c.2056-331C>G chr2 71694766 71694767 DYSF_00181 + DYSF:c.2073G>A chr2 71694770 71694771 DYSF_00347 + DYSF:c.2077delC chr2 71694806 71694807 DYSF_00041 + DYSF:c.2113G>A chr2 71700565 71700566 DYSF_00318 + DYSF:c.2192C>G chr2 71700573 71700578 DYSF_00022 + DYSF:c.2200_2204del chr2 71700590 71700591 DYSF_00319 + DYSF:c.2217C>A chr2 71702853 71702854 DYSF_00193 + DYSF:c.2367C>A chr2 71702858 71702859 DYSF_00007 + DYSF:c.2372C>G chr2 71702879 71702880 DYSF_00263 + DYSF:c.2393T>C chr2 71702980 71702981 DYSF_00282 + DYSF:c.2494C>T chr2 71702983 71702987 DYSF_00348 + DYSF:c.2497_2500del chr2 71702986 71702987 DYSF_00120 + DYSF:c.2500A>G chr2 71702998 71702999 DYSF_00340 + DYSF:c.2511+1G>A chr2 71706735 71709526 DYSF_00051 + DYSF:c.2512-?_3174+?del chr2 71706770 71706771 DYSF_00243 + DYSF:c.2547dupA chr2 71706805 71706807 DYSF_00040 + DYSF:c.2582_2583del chr2 71706806 71706807 DYSF_00018 + DYSF:c.2583T>A chr2 71706864 71706865 DYSF_00069 + DYSF:c.2641A>C chr2 71706867 71706868 DYSF_00066 + DYSF:c.2643+1G>A chr2 71706868 71706869 DYSF_00269 + DYSF:c.2643+2T>G chr2 71706954 71706955 DYSF_00149 + DYSF:c.2644-2A>G chr2 71707018 71707019 DYSF_00257 + DYSF:c.2706dupC chr2 71707091 71707092 DYSF_00213 + DYSF:c.2779delG chr2 71707102 71707103 DYSF_00268 + DYSF:c.2790G>C chr2 71707114 71707115 DYSF_00057 + DYSF:c.2802G>A chr2 71707123 71707124 DYSF_00341 + DYSF:c.2810+1G>A chr2 71707123 71707124 DYSF_00349 + DYSF:c.2810+1G>C chr2 71708606 71708607 DYSF_00304 + DYSF:c.2813T>G chr2 71708630 71708631 DYSF_00172 + DYSF:c.2837delA chr2 71708651 71708652 DYSF_00214 + DYSF:c.2858dupT chr2 71708668 71708669 DYSF_00016 + DYSF:c.2875C>T chr2 71708687 71708688 DYSF_00320 + DYSF:c.2894G>A chr2 71708694 71708695 DYSF_00034 + DYSF:c.2901dupC chr2 71708695 71708696 DYSF_00289 + DYSF:c.2902A>T chr2 71709053 71709054 DYSF_00254 + DYSF:c.2966C>T chr2 71709061 71709062 DYSF_00283 + DYSF:c.2974T>C chr2 71709062 71709063 DYSF_00321 + DYSF:c.2975G>A chr2 71709083 71709084 DYSF_00033 + DYSF:c.2996G>A chr2 71709084 71709085 DYSF_00132 + DYSF:c.2997G>T chr2 71709120 71709121 DYSF_00265 + DYSF:c.3031+2T>C chr2 71709366 71709367 DYSF_00080 + DYSF:c.3032-17G>A chr2 71709386 71709387 DYSF_00215 + DYSF:c.3035G>A chr2 71709392 71709393 DYSF_00055 + DYSF:c.3041A>G chr2 71709410 71709411 DYSF_00247 + DYSF:c.3059dupC chr2 71709412 71709413 DYSF_00302 + DYSF:c.3061dupG chr2 71709416 71709417 DYSF_00121 + DYSF:c.3065G>A chr2 71709424 71709432 DYSF_00035 + DYSF:c.3073_3080dup chr2 71709437 71709438 DYSF_00322 + DYSF:c.3086C>T chr2 71709463 71709464 DYSF_00216 + DYSF:c.3112C>T chr2 71709464 71709465 DYSF_00154 + DYSF:c.3113G>A chr2 71709466 71709467 DYSF_00234 + DYSF:c.3115C>T chr2 71709467 71709468 DYSF_00309 + DYSF:c.3116G>T chr2 71709472 71709473 DYSF_00180 + DYSF:c.3121C>T chr2 71709477 71709478 DYSF_00217 + DYSF:c.3126G>A chr2 71709481 71709482 DYSF_00308 + DYSF:c.3130C>A chr2 71709488 71709489 DYSF_00023 + DYSF:c.3137G>A chr2 71709500 71709502 DYSF_00036 + DYSF:c.3149_3150del chr2 71712986 71712987 DYSF_00160 + DYSF:c.3179G>C chr2 71712988 71712989 DYSF_00290 + DYSF:c.3181delC chr2 71712998 71713004 DYSF_00112 + DYSF:c.3191_3196dup chr2 71713032 71713033 DYSF_00323 + DYSF:c.3225delT chr2 71713114 71713115 DYSF_00284 + DYSF:c.3307A>T chr2 71713128 71713132 DYSF_00218 + DYSF:c.3321_3324dup chr2 71713156 71713160 DYSF_00219 + DYSF:c.3348+1_3348+4del chr2 71728375 71728376 DYSF_00144 + DYSF:c.3349-2A>G chr2 71728401 71728402 DYSF_00024 + DYSF:c.3373delG chr2 71728417 71728428 DYSF_00324 + DYSF:c.3389_3399dup chr2 71728962 71728963 DYSF_00266 + DYSF:c.3443-33A>G chr2 71728987 71728989 DYSF_00176 + DYSF:c.3443-8_3443-7delinsAA chr2 71728996 71728998 DYSF_00168 + DYSF:c.3444_3445delinsAA chr2 71729029 71729030 DYSF_00220 + DYSF:c.3477C>A chr2 71729030 71729031 DYSF_00025 + DYSF:c.3478C>T chr2 71729032 71729033 DYSF_00182 + DYSF:c.3480G>A chr2 71729068 71729070 DYSF_00163 + DYSF:c.3516_3517del chr2 71729069 71729070 DYSF_00325 + DYSF:c.3517dupT chr2 71729070 71729072 DYSF_00158 + DYSF:c.3518_3519insT chr2 71729225 71729226 DYSF_00081 + DYSF:c.3520+153A>T chr2 71735616 71735617 DYSF_00082 + DYSF:c.3521-1732G>A chr2 71737331 71737332 DYSF_00157 + DYSF:c.3521-17C>T chr2 71737428 71737435 DYSF_00113 + DYSF:c.3601_3607del chr2 71737445 71737446 DYSF_00164 + DYSF:c.3618C>G chr2 71737451 71737452 DYSF_00221 + DYSF:c.3624C>G chr2 71737510 71737511 DYSF_00326 + DYSF:c.3683T>C chr2 71737514 71737515 DYSF_00327 + DYSF:c.3687C>A chr2 71737530 71737531 DYSF_00356 + DYSF:c.3702+1G>A chr2 71737731 71737732 DYSF_00083 + DYSF:c.3702+202T>C chr2 71737756 71737757 DYSF_00084 + DYSF:c.3702+227C>T chr2 71739504 71739505 DYSF_00358 + DYSF:c.3721G>C chr2 71739508 71739509 DYSF_00085 + DYSF:c.3725G>A chr2 71739585 71739586 DYSF_00167 + DYSF:c.3802G>A chr2 71739609 71739610 DYSF_00222 + DYSF:c.3826C>G chr2 71739615 71739616 DYSF_00173 + DYSF:c.3832C>T chr2 71739627 71739628 DYSF_00223 + DYSF:c.3843+1G>A chr2 71739628 71739629 DYSF_00125 + DYSF:c.3843+2T>A chr2 71740077 71740078 DYSF_00086 + DYSF:c.3844-206A>T chr2 71741475 71741476 DYSF_00087 + DYSF:c.3874-85G>T chr2 71741578 71741579 DYSF_00003 + DYSF:c.3892A>G chr2 71750092 71750093 DYSF_00224 + DYSF:c.3967C>T chr2 71750097 71750098 DYSF_00129 + DYSF:c.3972C>T chr2 71750117 71750118 DYSF_00155 + DYSF:c.3992G>T chr2 71750128 71750129 DYSF_00153 + DYSF:c.4003G>A chr2 71750128 71750129 DYSF_00140 + DYSF:c.4003G>T chr2 71750129 71750130 DYSF_00350 + DYSF:c.4004A>G chr2 71750131 71750132 DYSF_00342 + DYSF:c.4005+1G>A chr2 71750209 71750210 DYSF_00088 + DYSF:c.4006-40C>T chr2 71750251 71750252 DYSF_00042 + DYSF:c.4008C>A chr2 71750265 71750266 DYSF_00239 + DYSF:c.4022T>C chr2 71750295 71750296 DYSF_00225 + DYSF:c.4052A>G chr2 71750311 71750312 DYSF_00058 + DYSF:c.4068C>T chr2 71750324 71750325 DYSF_00177 + DYSF:c.4081T>C chr2 71750411 71750412 DYSF_00067 + DYSF:c.4167+1G>C chr2 71751448 71751449 DYSF_00328 + DYSF:c.4191C>G chr2 71751449 71751451 DYSF_00295 + DYSF:c.4192_4193insC chr2 71751451 71751452 DYSF_00203 + DYSF:c.4194C>A chr2 71751457 71751458 DYSF_00065 + DYSF:c.4200dupC chr2 71751458 71751459 DYSF_00226 + DYSF:c.4201dupA chr2 71751510 71751511 DYSF_00288 + DYSF:c.4253G>A chr2 71752174 71752175 DYSF_00267 + DYSF:c.4390G>T chr2 71752207 71752208 DYSF_00050 + DYSF:c.4410+13T>G chr2 71768336 71768337 DYSF_00089 + DYSF:c.4411-14413G>A chr2 71772547 71772548 DYSF_00090 + DYSF:c.4411-10202C>T chr2 71778496 71778497 DYSF_00091 + DYSF:c.4411-4253A>G chr2 71779525 71779527 DYSF_00151 + DYSF:c.4411-3224GT(13_17) chr2 71782693 71782694 DYSF_00092 + DYSF:c.4411-56A>G chr2 71782744 71782745 DYSF_00260 + DYSF:c.4411-5C>G chr2 71782777 71782778 DYSF_00165 + DYSF:c.4439A>C chr2 71782835 71782836 DYSF_00133 + DYSF:c.4497delT chr2 71782842 71782843 DYSF_00019 + DYSF:c.4504C>T chr2 71782890 71782891 DYSF_00093 + DYSF:c.4509+43A>G chr2 71786690 71786691 DYSF_00094 + DYSF:c.4509+3843C>T chr2 71788142 71788143 DYSF_00095 + DYSF:c.4509+5295C>A chr2 71794654 71794655 DYSF_00097 + DYSF:c.4510-292A>G chr2 71794950 71794951 DYSF_00179 + DYSF:c.4514A>G chr2 71795013 71795014 DYSF_00329 + DYSF:c.4577A>C chr2 71795021 71795022 DYSF_00351 + DYSF:c.4585C>T chr2 71797662 71797663 DYSF_00038 + DYSF:c.4639G>C chr2 71797663 71797664 DYSF_00159 + DYSF:c.4640G>A chr2 71797737 71797738 DYSF_00255 + DYSF:c.4714G>A chr2 71797743 71797744 DYSF_00141 + DYSF:c.4720G>T chr2 71797765 71797766 DYSF_00147 + DYSF:c.4742G>A chr2 71797771 71797774 DYSF_00026 + DYSF:c.4748_4750delinsT chr2 71797777 71797789 DYSF_00049 + DYSF:c.4754_4765del chr2 71797779 71797780 DYSF_00027 + DYSF:c.4756C>T chr2 71797817 71797818 DYSF_00170 + DYSF:c.4794G>T chr2 71798714 71798715 DYSF_00098 + DYSF:c.4795-630C>T chr2 71799369 71799370 DYSF_00059 + DYSF:c.4820T>C chr2 71799421 71799422 DYSF_00178 + DYSF:c.4872delG chr2 71799421 71799426 DYSF_00005 + DYSF:c.4872_4876delinsCCCC chr2 71799425 71799426 DYSF_00227 + DYSF:c.4876delG chr2 71800755 71800756 DYSF_00099 + DYSF:c.4886+1320A>G chr2 71800810 71800811 DYSF_00100 + DYSF:c.4886+1375C>G chr2 71801969 71801970 DYSF_00101 + DYSF:c.4887-1083C>G chr2 71803015 71803016 DYSF_00102 + DYSF:c.4887-37C>T chr2 71803108 71803109 DYSF_00291 + DYSF:c.4943A>G chr2 71803134 71803135 DYSF_00300 + DYSF:c.4969G>A chr2 71803150 71803151 DYSF_00175 + DYSF:c.4985C>G chr2 71803187 71803188 DYSF_00188 + DYSF:c.5022delT chr2 71803198 71803199 DYSF_00352 + DYSF:c.5033G>A chr2 71803198 71803199 DYSF_00200 + DYSF:c.5033G>C chr2 71803201 71803202 DYSF_00142 + DYSF:c.5036G>A chr2 71803203 71803226 DYSF_00006 + DYSF:c.5038_5057+3dup chr2 71803226 71803228 DYSF_00270 + DYSF:c.5057+4_5057+5ins23 chr2 71803226 71803229 DYSF_00152 + DYSF:c.5057+4_5057+6del chr2 71803227 71803228 DYSF_00013 + DYSF:c.5057+5G>A chr2 71803965 71803966 DYSF_00197 + DYSF:c.5077C>T chr2 71803966 71803967 DYSF_00228 + DYSF:c.5078G>A chr2 71804037 71804038 DYSF_00258 + DYSF:c.5149C>T chr2 71804082 71804083 DYSF_00292 + DYSF:c.5194G>C chr2 71804082 71804083 DYSF_00028 + DYSF:c.5194G>T chr2 71804088 71804089 DYSF_00192 + DYSF:c.5200G>T chr2 71804089 71804090 DYSF_00204 + DYSF:c.5200+1G>A chr2 71806160 71806161 DYSF_00310 + DYSF:c.5201A>G chr2 71806202 71806203 DYSF_00229 + DYSF:c.5243A>T chr2 71806231 71806232 DYSF_00048 + DYSF:c.5272C>T chr2 71806255 71806256 DYSF_00230 + DYSF:c.5296G>T chr2 71806261 71806262 DYSF_00126 + DYSF:c.5302C>T chr2 71806273 71806278 DYSF_00231 + DYSF:c.5314_5318del chr2 71807537 71807538 DYSF_00161 + DYSF:c.5341-1G>A chr2 71807538 71807992 DYSF_00253 + DYSF:c.5341-?_5525+?del chr2 71807626 71807627 DYSF_00130 + DYSF:c.5429G>A chr2 71807894 71807895 DYSF_00294 + DYSF:c.5430-2A>G chr2 71807963 71807964 DYSF_00009 + DYSF:c.5497G>T chr2 71807975 71807976 DYSF_00014 + DYSF:c.5509G>A chr2 71807992 71807993 DYSF_00194 + DYSF:c.5525+1G>A chr2 71807994 71807995 DYSF_00241 + DYSF:c.5525+3A>G chr2 71808392 71808393 DYSF_00353 + DYSF:c.5529G>A chr2 71808433 71808434 DYSF_00011 + DYSF:c.5570A>G chr2 71808435 71808436 DYSF_00047 + DYSF:c.5572delT chr2 71808457 71808458 DYSF_00002 + DYSF:c.5594delG chr2 71808489 71808490 DYSF_00015 + DYSF:c.5626G>A chr2 71808729 71808730 DYSF_00103 + DYSF:c.5667+199A>G chr2 71809605 71809606 DYSF_00104 + DYSF:c.5667+1075G>A chr2 71810759 71810760 DYSF_00105 + DYSF:c.5668-2222C>A chr2 71810834 71810835 DYSF_00106 + DYSF:c.5668-2147C>T chr2 71811100 71811101 DYSF_00107 + DYSF:c.5668-1881C>T chr2 71811662 71811663 DYSF_00108 + DYSF:c.5668-1319C>T chr2 71812974 71812975 DYSF_00199 + DYSF:c.5668-7G>A chr2 71812988 71812989 DYSF_00143 + DYSF:c.5675delT chr2 71813005 71813006 DYSF_00162 + DYSF:c.5692A>G chr2 71813011 71813013 DYSF_00012 + DYSF:c.5698_5699del chr2 71813026 71813027 DYSF_00021 + DYSF:c.5713C>T chr2 71813052 71813053 DYSF_00244 + DYSF:c.5739T>G chr2 71813081 71813082 DYSF_00343 + DYSF:c.5767+1G>A chr2 71817825 71817826 DYSF_00109 + DYSF:c.5768-16T>C chr2 71817855 71817859 DYSF_00138 + DYSF:c.5782_5785dup chr2 71817878 71817879 DYSF_00330 + DYSF:c.5805delA chr2 71817886 71817895 DYSF_00232 + DYSF:c.5813_5821del chr2 71817886 71817895 DYSF_00235 + DYSF:c.5813_5821dup chr2 71817897 71817898 DYSF_00202 + DYSF:c.5824T>G chr2 71817909 71817913 DYSF_00068 + DYSF:c.5836_5839del chr2 71817932 71817933 DYSF_00020 + DYSF:c.5859A>C chr2 71817944 71817946 DYSF_00331 + DYSF:c.5871_5872del chr2 71817972 71817973 DYSF_00332 + DYSF:c.5899G>A chr2 71817976 71817977 DYSF_00233 + DYSF:c.5903G>A chr2 71817981 71817982 DYSF_00333 + DYSF:c.5908C>T chr2 71818018 71818019 DYSF_00249 + DYSF:c.5945delC chr2 71818020 71818021 DYSF_00008 + DYSF:c.5946+1G>A chr2 71819817 71819818 DYSF_00054 + DYSF:c.5979dupA chr2 71819837 71819838 DYSF_00029 + DYSF:c.5999G>A chr2 71821231 71821232 DYSF_00110 + DYSF:c.6057-83T>A chr2 71821320 71821321 DYSF_00148 + DYSF:c.6063C>T chr2 71821376 71821377 DYSF_00256 + DYSF:c.6119G>A chr2 71821381 71821382 DYSF_00004 + DYSF:c.6124C>T chr2 71821411 71821423 DYSF_00354 + DYSF:c.6154_6165dup chr2 71821460 71821461 DYSF_00183 + DYSF:c.6203C>T chr2 71821476 71821477 DYSF_00111 + DYSF:c.6204+15C>T chr2 71825250 71825251 DYSF_00134 + DYSF:c.6217A>G chr2 71825329 71825330 DYSF_00123 + DYSF:c.*53G>A chr2 71825371 71825372 DYSF_00072 + DYSF:c.*95C>A chr2 71825383 71825384 DYSF_00237 + DYSF:c.*107T>A chrX 153128422 153130729 EMD_00059 + EMD:c.(?_-269)_(*325_?)del chrX 153118373 153139994 EMD_00089 + EMD:c.(?_-269)_(*325_?)inv chrX 153128541 153128563 EMD_00001 + EMD:c.-150_-129del chrX 153128691 153128692 EMD_00058 + EMD:c.1A>G chrX 153128692 153128693 EMD_00002 + EMD:c.2T>C chrX 153128692 153128693 EMD_00003 + EMD:c.2T>G chrX 153128693 153128694 EMD_00004 + EMD:c.3G>A chrX 153128693 153128722 EMD_00087 + EMD:c.3_31del chrX 153128697 153129126 EMD_00015 + EMD:c.7_188-23del429ins103 chrX 153128721 153128722 EMD_00061 + EMD:c.31delG chrX 153128747 153128748 EMD_00060 + EMD:c.57C>G chrX 153128762 153128764 EMD_00101 + EMD:c.72_73delins12 chrX 153128773 153128774 EMD_00005 + EMD:c.82+1delG chrX 153128773 153128774 EMD_00062 + EMD:c.82+1G>T chrX 153128777 153128778 EMD_00006 + EMD:c.82+5G>C chrX 153128778 153128780 EMD_00063 + EMD:c.82+6_82+7insCG chrX 153128892 153128897 EMD_00021 + EMD:c.83-4_83del chrX 153128894 153128895 EMD_00025 + EMD:c.83-2A>C chrX 153128909 153128969 EMD_00020 + EMD:c.96_155del chrX 153128910 153128969 EMD_00088 + EMD:c.97_155del chrX 153128913 153128914 EMD_00009 + EMD:c.100delT chrX 153128915 153128916 EMD_00010 + EMD:c.102C>G chrX 153128936 153128937 EMD_00064 + EMD:c.123C>G chrX 153128943 153128944 EMD_00011 + EMD:c.130C>T chrX 153128951 153128977 EMD_00013 + EMD:c.138_163del chrX 153128952 153128954 EMD_00024 + EMD:c.139_140dup chrX 153128966 153128967 EMD_00014 + EMD:c.153delC chrX 153128974 153128975 EMD_00065 + EMD:c.161C>T chrX 153128978 153128979 EMD_00095 + EMD:c.165delC chrX 153128987 153128989 EMD_00066 + EMD:c.174_175del chrX 153128990 153128991 EMD_00016 + EMD:c.177T>A chrX 153128991 153128992 EMD_00017 + EMD:c.178dupA chrX 153128997 153128998 EMD_00018 + EMD:c.184dupT chrX 153128999 153129000 EMD_00104 + EMD:c.186dupT chrX 153129001 153129002 EMD_00019 + EMD:c.187+1G>A chrX 153129175 153129176 EMD_00100 + EMD:c.215A>T chrX 153129181 153129183 EMD_00068 + EMD:c.221_222delA chrX 153129199 153129201 EMD_00022 + EMD:c.239_240del chrX 153129211 153129216 EMD_00023 + EMD:c.251_255del chrX 153129216 153129217 EMD_00069 + EMD:c.256C>T chrX 153129413 153129431 EMD_00071 + EMD:c.266-27_266-10del chrX 153129437 153129438 EMD_00028 + EMD:c.266-3A>G chrX 153129438 153129439 EMD_00027 + EMD:c.266-2A>G chrX 153129439 153129440 EMD_00070 + EMD:c.266-1G>C chrX 153129440 153130729 EMD_00026 + EMD:c.266-?_*325+?del chrX 153129456 153129457 EMD_00029 + EMD:c.282C>G chrX 153129458 153129473 EMD_00030 + EMD:c.284_298del chrX 153129475 153129476 EMD_00031 + EMD:c.301dupA chrX 153129488 153129490 EMD_00032 + EMD:c.314_315del chrX 153129489 153129490 EMD_00034 + EMD:c.315T>G chrX 153129499 153129500 EMD_00035 + EMD:c.325G>T chrX 153129530 153129531 EMD_00091 + EMD:c.356dupA chrX 153129532 153129533 EMD_00074 + EMD:c.358delT chrX 153129533 153129537 EMD_00036 + EMD:c.359_362del chrX 153129571 153129572 EMD_00075 + EMD:c.397C>T chrX 153129573 153129574 EMD_00038 + EMD:c.399G>T chrX 153129574 153129575 EMD_00037 + EMD:c.399+1G>A chrX 153129574 153129575 EMD_00076 + EMD:c.399+1G>C chrX 153129989 153129990 EMD_00077 + EMD:c.430G>T chrX 153130000 153130001 EMD_00039 + EMD:c.441C>A chrX 153130004 153130005 EMD_00040 + EMD:c.445G>C chrX 153130009 153130010 EMD_00041 + EMD:c.449+1G>A chrX 153130009 153130010 EMD_00092 + EMD:c.449+1G>T chrX 153130086 153130087 EMD_00096 + EMD:c.450-2A>G chrX 153130087 153130729 EMD_00067 + EMD:c.450-?_(1090_?)del chrX 153130099 153130113 EMD_00073 + EMD:c.461_474delinsG chrX 153130107 153130108 EMD_00078 + EMD:c.469delC chrX 153130110 153130111 EMD_00103 + EMD:c.472delG chrX 153130144 153130146 EMD_00079 + EMD:c.506_507del chrX 153130149 153130151 EMD_00042 + EMD:c.511_512insTA chrX 153130150 153130151 EMD_00043 + EMD:c.512C>A chrX 153130181 153130182 EMD_00047 + EMD:c.543T>G chrX 153130184 153130185 EMD_00093 + EMD:c.546T>A chrX 153130185 153130186 EMD_00044 + EMD:c.547C>A chrX 153130186 153130187 EMD_00080 + EMD:c.548C>A chrX 153130204 153130209 EMD_00094 + EMD:c.566_570del chrX 153130238 153130239 EMD_00081 + EMD:c.600G>A chrX 153130239 153130250 EMD_00082 + EMD:c.601_611del chrX 153130246 153130247 EMD_00097 + EMD:c.608G>A chrX 153130253 153130254 EMD_00045 + EMD:c.615delC chrX 153130255 153130259 EMD_00046 + EMD:c.617_620del chrX 153130257 153130258 EMD_00083 + EMD:c.619delC chrX 153130259 153130260 EMD_00048 + EMD:c.621delG chrX 153130261 153130369 EMD_00084 + EMD:c.623_730del chrX 153130287 153130289 EMD_00098 + EMD:c.649_650ins33 chrX 153130288 153130293 EMD_00085 + EMD:c.650_654dup chrX 153130292 153130297 EMD_00090 + EMD:c.654_658dup chrX 153130293 153130294 EMD_00052 + EMD:c.655C>T chrX 153130300 153130302 EMD_00099 + EMD:c.662_663ins36 chrX 153130312 153130317 EMD_00049 + EMD:c.674_678del chrX 153130315 153130316 EMD_00086 + EMD:c.677G>A chrX 153130320 153130321 EMD_00050 + EMD:c.682C>T chrX 153130343 153130361 EMD_00051 + EMD:c.705_722del chrX 153130355 153130360 EMD_00053 + EMD:c.717_721del chrX 153130378 153130382 EMD_00054 + EMD:c.740_743del chrX 153130397 153130398 EMD_00055 + EMD:c.759delC chrX 153130462 153130463 EMD_00056 + EMD:c.*59G>C chrX 153130463 153130464 EMD_00057 + EMD:c.*60C>T chr19 51940818 51940819 FKRP_00033 + FKRP:c.-621C>G chr19 51943527 51943528 FKRP_00049 + FKRP:c.-190-84C>T chr19 51943757 51943758 FKRP_00046 + FKRP:c.-44C>T chr19 51950513 51950514 FKRP_00008 + FKRP:c.-34C>T chr19 51950547 51950548 FKRP_00034 + FKRP:c.1A>G chr19 51950549 51950550 FKRP_00065 + FKRP:c.3G>T chr19 51950609 51950610 FKRP_00020 + FKRP:c.63C>A chr19 51950609 51950610 FKRP_00094 + FKRP:c.63C>T chr19 51950681 51950682 FKRP_00021 + FKRP:c.135C>T chr19 51950700 51950705 FKRP_00035 + FKRP:c.154_158dup chr19 51950704 51950709 FKRP_00039 + FKRP:c.158_162dup chr19 51950706 51950707 FKRP_00084 + FKRP:c.160C>T chr19 51950708 51950712 FKRP_00013 + FKRP:c.162_165dup chr19 51950709 51950710 FKRP_00091 + FKRP:c.163G>C chr19 51950738 51950739 FKRP_00088 + FKRP:c.192C>T chr19 51950747 51950748 FKRP_00079 + FKRP:c.201A>G chr19 51950757 51950758 FKRP_00066 + FKRP:c.211C>G chr19 51950781 51950782 FKRP_00063 + FKRP:c.235G>A chr19 51950787 51950790 FKRP_00110 + FKRP:c.241_243delGTG chr19 51950795 51950796 FKRP_00022 + FKRP:c.249C>T chr19 51950804 51950805 FKRP_00115 + FKRP:c.258C>A chr19 51950812 51950813 FKRP_00057 + FKRP:c.266C>G chr19 51950812 51950813 FKRP_00040 + FKRP:c.266C>T chr19 51950821 51950822 FKRP_00067 + FKRP:c.275C>G chr19 51950824 51950825 FKRP_00055 + FKRP:c.278T>C chr19 51950826 51950827 FKRP_00121 + FKRP:c.280C>T chr19 51950859 51950860 FKRP_00064 + FKRP:c.313C>T chr19 51950875 51950876 FKRP_00103 + FKRP:c.329G>C chr19 51950887 51950888 FKRP_00016 + FKRP:c.341C>G chr19 51950908 51950909 FKRP_00028 + FKRP:c.362T>A chr19 51950920 51950921 FKRP_00058 + FKRP:c.374T>C chr19 51950932 51950936 FKRP_00003 + FKRP:c.386_389dup chr19 51950936 51950937 FKRP_00116 + FKRP:c.390dupACCG chr19 51950946 51950947 FKRP_00085 + FKRP:c.400C>T chr19 51950972 51950984 FKRP_00006 + FKRP:c.426_437del chr19 51950973 51950974 FKRP_00007 + FKRP:c.427C>A chr19 51950976 51950977 FKRP_00111 + FKRP:c.430A>G chr19 51951002 51951003 FKRP_00095 + FKRP:c.456C>G chr19 51951015 51951016 FKRP_00083 + FKRP:c.469G>C chr19 51951024 51951025 FKRP_00078 + FKRP:c.478G>T chr19 51951042 51951043 FKRP_00068 + FKRP:c.496G>T chr19 51951066 51951067 FKRP_00105 + FKRP:c.520A>C chr19 51951066 51951067 FKRP_00113 + FKRP:c.520A>T chr19 51951091 51951092 FKRP_00086 + FKRP:c.545A>G chr19 51951113 51951114 FKRP_00090 + FKRP:c.567C>T chr19 51951131 51951132 FKRP_00069 + FKRP:c.585C>T chr19 51951132 51951133 FKRP_00061 + FKRP:c.586G>C chr19 51951151 51951152 FKRP_00042 + FKRP:c.605T>A chr19 51951152 51951153 FKRP_00089 + FKRP:c.606G>A chr19 51951182 51951183 FKRP_00096 + FKRP:c.636G>A chr19 51951184 51951185 FKRP_00071 + FKRP:c.638C>T chr19 51951194 51951195 FKRP_00023 + FKRP:c.648G>A chr19 51951195 51951196 FKRP_00014 + FKRP:c.649C>A chr19 51951200 51951201 FKRP_00024 + FKRP:c.654G>A chr19 51951207 51951208 FKRP_00108 + FKRP:c.661dupA chr19 51951209 51951210 FKRP_00025 + FKRP:c.663C>A chr19 51951277 51951278 FKRP_00074 + FKRP:c.731G>A chr19 51951286 51951287 FKRP_00112 + FKRP:c.740C>A chr19 51951310 51951311 FKRP_00062 + FKRP:c.764G>A chr19 51951369 51951370 FKRP_00102 + FKRP:c.823C>T chr19 51951372 51951373 FKRP_00001 + FKRP:c.826C>A chr19 51951382 51951383 FKRP_00052 + FKRP:c.836G>A chr19 51951424 51951425 FKRP_00087 + FKRP:c.878C>T chr19 51951444 51951445 FKRP_00051 + FKRP:c.898G>A chr19 51951445 51951446 FKRP_00032 + FKRP:c.899T>C chr19 51951464 51951476 FKRP_00109 + FKRP:c.918_929del chr19 51951465 51951466 FKRP_00030 + FKRP:c.919T>A chr19 51951472 51951473 FKRP_00009 + FKRP:c.926A>G chr19 51951474 51951475 FKRP_00050 + FKRP:c.928G>T chr19 51951480 51951481 FKRP_00004 + FKRP:c.934C>T chr19 51951492 51951493 FKRP_00026 + FKRP:c.946C>A chr19 51951492 51951493 FKRP_00036 + FKRP:c.946C>T chr19 51951493 51951494 FKRP_00005 + FKRP:c.947C>G chr19 51951494 51951495 FKRP_00101 + FKRP:c.948delC chr19 51951499 51951500 FKRP_00043 + FKRP:c.953G>A chr19 51951502 51951503 FKRP_00118 + FKRP:c.956T>G chr19 51951508 51951509 FKRP_00070 + FKRP:c.962C>A chr19 51951514 51951515 FKRP_00104 + FKRP:c.968G>A chr19 51951529 51951530 FKRP_00019 + FKRP:c.983A>C chr19 51951562 51951563 FKRP_00012 + FKRP:c.1016G>A chr19 51951562 51951563 FKRP_00002 + FKRP:c.1016G>T chr19 51951569 51951570 FKRP_00072 + FKRP:c.1023G>A chr19 51951579 51951599 FKRP_00075 + FKRP:c.1033_1052del chr19 51951596 51953062 FKRP_00114 + FKRP:c.1050_*1027delinsTCAA chr19 51951600 51951601 FKRP_00029 + FKRP:c.1054C>G chr19 51951619 51951620 FKRP_00077 + FKRP:c.1073C>T chr19 51951624 51951625 FKRP_00038 + FKRP:c.1078G>A chr19 51951624 51951625 FKRP_00107 + FKRP:c.1078G>C chr19 51951633 51951634 FKRP_00060 + FKRP:c.1087G>T chr19 51951634 51951635 FKRP_00044 + FKRP:c.1088T>G chr19 51951663 51951664 FKRP_00092 + FKRP:c.1117G>A chr19 51951687 51951688 FKRP_00119 + FKRP:c.1141delG chr19 51951700 51951701 FKRP_00010 + FKRP:c.1154C>A chr19 51951710 51951711 FKRP_00080 + FKRP:c.1164T>C chr19 51951716 51951718 FKRP_00056 + FKRP:c.1170_1171del chr19 51951733 51951734 FKRP_00041 + FKRP:c.1187dupA chr19 51951734 51951735 FKRP_00097 + FKRP:c.1188G>A chr19 51951747 51951748 FKRP_00017 + FKRP:c.1201G>A chr19 51951756 51951757 FKRP_00100 + FKRP:c.1210C>T chr19 51951759 51951760 FKRP_00053 + FKRP:c.1213G>T chr19 51951762 51951763 FKRP_00047 + FKRP:c.1216C>T chr19 51951765 51951766 FKRP_00093 + FKRP:c.1219T>G chr19 51951770 51951771 FKRP_00098 + FKRP:c.1224C>T chr19 51951780 51951781 FKRP_00048 + FKRP:c.1234dupC chr19 51951788 51951789 FKRP_00081 + FKRP:c.1242C>T chr19 51951816 51951818 FKRP_00076 + FKRP:c.1270_1271insT chr19 51951860 51951861 FKRP_00120 + FKRP:c.1314T>G chr19 51951864 51951865 FKRP_00073 + FKRP:c.1318G>T chr19 51951871 51951872 FKRP_00117 + FKRP:c.1325C>T chr19 51951887 51951888 FKRP_00018 + FKRP:c.1341G>A chr19 51951889 51951890 FKRP_00011 + FKRP:c.1343C>T chr19 51951910 51951911 FKRP_00054 + FKRP:c.1364C>A chr19 51951924 51951925 FKRP_00099 + FKRP:c.1378C>T chr19 51951930 51951931 FKRP_00037 + FKRP:c.1384C>T chr19 51951933 51951934 FKRP_00106 + FKRP:c.1387A>G chr19 51951940 51951941 FKRP_00015 + FKRP:c.1394A>C chr19 51951951 51951952 FKRP_00082 + FKRP:c.1405C>T chr19 51951961 51951962 FKRP_00045 + FKRP:c.1415A>C chr19 51951979 51951980 FKRP_00059 + FKRP:c.1433T>C chr19 51952021 51952022 FKRP_00031 + FKRP:c.1475delC chr19 51952032 51952033 FKRP_00027 + FKRP:c.1486T>A chr9 105438466 105438467 FKTN_00002 + FKTN:c.139C>T chr9 105438486 105438487 FKTN_00031 + FKTN:c.165-6A>G chr9 105443001 105443003 FKTN_00003 + FKTN:c.187_188del chr9 105443154 105443155 FKTN_00022 + FKTN:c.340G>A chr9 105443159 105443161 FKTN_00011 + FKTN:c.345_346delinsCT chr9 105446134 105446135 FKTN_00010 + FKTN:c.454dupT chr9 105446195 105446196 FKTN_00018 + FKTN:c.515A>G chr9 105446207 105446208 FKTN_00023 + FKTN:c.527T>C chr9 105446287 105446289 FKTN_00015 + FKTN:c.607_608delinsTA chr9 105446288 105446289 FKTN_00007 + FKTN:c.608G>A chr9 105446322 105446323 FKTN_00024 + FKTN:c.642dupT chr9 105449754 105449755 FKTN_00004 + FKTN:c.748T>G chr9 105457191 105457192 FKTN_00029 + FKTN:c.859delA chr9 105457238 105457239 FKTN_00005 + FKTN:c.906T>A chr9 105457256 105457257 FKTN_00034 + FKTN:c.910+14G>A chr9 105459770 105459772 FKTN_00013 + FKTN:c.911-24_911-23ins(1200) chr9 105459797 105459798 FKTN_00017 + FKTN:c.914G>A chr9 105459798 105459799 FKTN_00026 + FKTN:c.915G>A chr9 105459802 105459803 FKTN_00027 + FKTN:c.919C>T chr9 105459803 105459804 FKTN_00025 + FKTN:c.920G>A chr9 105459909 105459910 FKTN_00008 + FKTN:c.1026C>A chr9 105459971 105459972 FKTN_00032 + FKTN:c.1044+44A>G chr9 105459985 105459986 FKTN_00033 + FKTN:c.1044+58C>T chr9 105461782 105461783 FKTN_00016 + FKTN:c.1058T>A chr9 105461836 105461837 FKTN_00014 + FKTN:c.1112A>G chr9 105461891 105461892 FKTN_00006 + FKTN:c.1167dupA chr9 105477049 105477050 FKTN_00012 + FKTN:c.1336A>G chr9 105477076 105477077 FKTN_00028 + FKTN:c.1363delG chr9 105477313 105477314 FKTN_00009 + FKTN:c.*214T>A chr9 105478793 105478794 FKTN_00019 + FKTN:c.*1694T>C chr9 105479525 105479526 FKTN_00020 + FKTN:c.*2426T>A chr9 105481474 105481476 FKTN_00001 + FKTN:c.*4375_*4376insAB185332.1 chr9 105482717 105482718 FKTN_00021 + FKTN:c.*5618T>A chr6 129246084 129246085 LAMA2_00003 + LAMA2:c.2T>C chr6 129246117 129246118 LAMA2_00190 + LAMA2:c.35T>G chr6 129246164 129246165 LAMA2_00004 + LAMA2:c.82C>T chr6 129246197 129246198 LAMA2_00084 + LAMA2:c.112+3A>G chr6 129412798 129412799 LAMA2_00153 + LAMA2:c.156C>T chr6 129412899 129412900 LAMA2_00007 + LAMA2:c.257G>A chr6 129412925 129412926 LAMA2_00136 + LAMA2:c.283C>T chr6 129422490 129422491 LAMA2_00154 + LAMA2:c.284-131C>T chr6 129422536 129422537 LAMA2_00155 + LAMA2:c.284-85delinsGG chr6 129422700 129422701 LAMA2_00152 + LAMA2:c.363C>A chr6 129422718 129422719 LAMA2_00110 + LAMA2:c.381C>A chr6 129461024 129461025 LAMA2_00111 + LAMA2:c.411G>A chr6 129461111 129461112 LAMA2_00008 + LAMA2:c.498G>A chr6 129461113 129461114 LAMA2_00144 + LAMA2:c.500A>C chr6 129461241 129461242 LAMA2_00009 + LAMA2:c.628G>T chr6 129507114 129507115 LAMA2_00156 + LAMA2:c.819+197G>A chr6 129509801 129509802 LAMA2_00138 + LAMA2:c.825delC chr6 129509822 129509823 LAMA2_00112 + LAMA2:c.846A>T chr6 129509980 129509981 LAMA2_00157 + LAMA2:c.909+95A>T chr6 129511857 129511859 LAMA2_00010 + LAMA2:c.951_952dup chr6 129511887 129511888 LAMA2_00094 + LAMA2:c.981G>A chr6 129517390 129517391 LAMA2_00113 + LAMA2:c.1076T>C chr6 129517491 129517492 LAMA2_00187 + LAMA2:c.1177T>G chr6 129517496 129517497 LAMA2_00095 + LAMA2:c.1182T>A chr6 129517522 129517523 LAMA2_00011 + LAMA2:c.1206+2T>G chr6 129528412 129528413 LAMA2_00085 + LAMA2:c.1207-1G>C chr6 129528605 129528606 LAMA2_00158 + LAMA2:c.1306+93T>C chr6 129540613 129540614 LAMA2_00012 + LAMA2:c.1377delC chr6 129540655 129540656 LAMA2_00114 + LAMA2:c.1419G>A chr6 129553064 129553066 LAMA2_00013 + LAMA2:c.1490_1491del chr6 129553065 129553066 LAMA2_00083 + LAMA2:c.1491T>C chr6 129553154 129553155 LAMA2_00132 + LAMA2:c.1580G>A chr6 129555542 129555543 LAMA2_00087 + LAMA2:c.1634T>A chr6 129555577 129555578 LAMA2_00137 + LAMA2:c.1669C>T chr6 129555670 129555671 LAMA2_00182 + LAMA2:c.1762delG chr6 129612958 129612961 LAMA2_00014 + LAMA2:c.1792_1794del chr6 129612964 129612965 LAMA2_00090 + LAMA2:c.1798G>A chr6 129613020 129613028 LAMA2_00015 + LAMA2:c.1854_1861dup chr6 129613022 129613023 LAMA2_00016 + LAMA2:c.1856G>A chr6 129613050 129613051 LAMA2_00183 + LAMA2:c.1884G>A chr6 129614926 129614931 LAMA2_00017 + LAMA2:c.1890_1894del chr6 129615085 129615087 LAMA2_00018 + LAMA2:c.2049_2050del chr6 129615090 129615091 LAMA2_00115 + LAMA2:c.2054T>C chr6 129623629 129623630 LAMA2_00019 + LAMA2:c.2178C>A chr6 129623701 129623702 LAMA2_00159 + LAMA2:c.2208+42C>T chr6 129629969 129629970 LAMA2_00096 + LAMA2:c.2235T>A chr6 129630029 129630030 LAMA2_00097 + LAMA2:c.2295C>A chr6 129629964 129629965 LAMA2_00020 + LAMA2:c.2230C>T chr6 129633507 129633508 LAMA2_00021 + LAMA2:c.2369delC chr6 129633593 129633600 LAMA2_00118 + LAMA2:c.2450+5_2450+11del chr6 129650683 129650684 LAMA2_00184 + LAMA2:c.2538-1G>C chr6 129650696 129650697 LAMA2_00098 + LAMA2:c.2550C>G chr6 129650722 129650723 LAMA2_00116 + LAMA2:c.2576G>T chr6 129650730 129650731 LAMA2_00022 + LAMA2:c.2584T>C chr6 129650777 129650778 LAMA2_00099 + LAMA2:c.2631C>G chr6 129650896 129650897 LAMA2_00186 + LAMA2:c.2749+1G>A chr6 129654450 129654451 LAMA2_00023 + LAMA2:c.2750-1G>A chr6 129654457 129654458 LAMA2_00088 + LAMA2:c.2756G>T chr6 129654500 129654501 LAMA2_00024 + LAMA2:c.2799A>G chr6 129660474 129660475 LAMA2_00185 + LAMA2:c.2857-48C>G chr6 129660566 129660567 LAMA2_00025 + LAMA2:c.2901C>A chr6 129660619 129660620 LAMA2_00026 + LAMA2:c.2954G>A chr6 129660627 129660628 LAMA2_00027 + LAMA2:c.2962C>T chr6 129660651 129660652 LAMA2_00028 + LAMA2:c.2986T>C chr6 129660842 129660843 LAMA2_00160 + LAMA2:c.3037+140G>A chr6 129663278 129663279 LAMA2_00161 + LAMA2:c.3038-295A>G chr6 129663417 129663418 LAMA2_00162 + LAMA2:c.3038-156A>G chr6 129663574 129663575 LAMA2_00100 + LAMA2:c.3039T>G chr6 129663620 129663621 LAMA2_00029 + LAMA2:c.3085C>T chr6 129663634 129663635 LAMA2_00101 + LAMA2:c.3099T>A chr6 129663657 129663658 LAMA2_00030 + LAMA2:c.3122delG chr6 129663670 129663671 LAMA2_00163 + LAMA2:c.3135A>G chr6 129663747 129663748 LAMA2_00164 + LAMA2:c.3174+38A>G chr6 129244208 129248932 LAMA2_00108 + LAMA2:c.(?_3175)_(7898_?)del chr6 129675666 129675668 LAMA2_00188 + LAMA2:c.3175-32_3175-31del chr6 129675738 129675739 LAMA2_00109 + LAMA2:c.3215delG chr6 129675947 129675948 LAMA2_00165 + LAMA2:c.3411+13G>A chr6 129677552 129677553 LAMA2_00181 + LAMA2:c.3472A>T chr6 129678124 129678125 LAMA2_00166 + LAMA2:c.3556-189C>G chr6 129678380 129678403 LAMA2_00031 + LAMA2:c.3623_3645del chr6 129678387 129678388 LAMA2_00142 + LAMA2:c.3630delT chr6 129678475 129678476 LAMA2_00001 + LAMA2:c.3718C>T chr6 129678476 129678477 LAMA2_00119 + LAMA2:c.3719A>T chr6 129678662 129678685 LAMA2_00189 + LAMA2:c.3799_3821del chr6 129678695 129678696 LAMA2_00135 + LAMA2:c.3832G>T chr6 129678789 129678790 LAMA2_00032 + LAMA2:c.3924+2T>C chr6 129678880 129678881 LAMA2_00120 + LAMA2:c.3930A>G chr6 129678926 129678927 LAMA2_00033 + LAMA2:c.3976C>T chr6 129678998 129678999 LAMA2_00034 + LAMA2:c.4048C>T chr6 129683373 129683374 LAMA2_00035 + LAMA2:c.4059-2A>G chr6 129691042 129691043 LAMA2_00167 + LAMA2:c.4177-73C>T chr6 129691218 129691219 LAMA2_00086 + LAMA2:c.4280delG chr6 129691247 129691248 LAMA2_00037 + LAMA2:c.4309C>T chr6 129704963 129704964 LAMA2_00168 + LAMA2:c.4312-217T>C chr6 129705179 129705180 LAMA2_00038 + LAMA2:c.4312-1G>C chr6 129705186 129705187 LAMA2_00147 + LAMA2:c.4318C>T chr6 129705243 129705244 LAMA2_00141 + LAMA2:c.4375delG chr6 129705273 129705274 LAMA2_00039 + LAMA2:c.4405T>C chr6 129705275 129705276 LAMA2_00121 + LAMA2:c.4407T>C chr6 129712144 129712145 LAMA2_00122 + LAMA2:c.4446C>T chr6 129715754 129715755 LAMA2_00169 + LAMA2:c.4524-247A>G chr6 129715999 129716000 LAMA2_00002 + LAMA2:c.4524-2A>T chr6 129716115 129716116 LAMA2_00040 + LAMA2:c.4638C>A chr6 129716122 129716123 LAMA2_00041 + LAMA2:c.4645C>T chr6 129716167 129716168 LAMA2_00042 + LAMA2:c.4690C>T chr6 129716169 129716173 LAMA2_00143 + LAMA2:c.4692_4695dup chr6 129729077 129729078 LAMA2_00134 + LAMA2:c.4739dupG chr6 129729088 129729089 LAMA2_00123 + LAMA2:c.4750G>A chr6 129732674 129732675 LAMA2_00170 + LAMA2:c.4861-55A>G chr6 129732729 129732730 LAMA2_00139 + LAMA2:c.4861delC chr6 129732824 129732825 LAMA2_00091 + LAMA2:c.4956C>G chr6 129746005 129746006 LAMA2_00117 + LAMA2:c.5006delA chr6 129754372 129754373 LAMA2_00044 + LAMA2:c.5116C>T chr6 129754491 129754492 LAMA2_00148 + LAMA2:c.5234+1G>A chr6 129756029 129756030 LAMA2_00124 + LAMA2:c.5382A>T chr6 129764081 129764082 LAMA2_00045 + LAMA2:c.5466A>G chr6 129764091 129764092 LAMA2_00046 + LAMA2:c.5476C>T chr6 129764102 129764104 LAMA2_00047 + LAMA2:c.5487_5488del chr6 129764117 129764118 LAMA2_00048 + LAMA2:c.5502G>A chr6 129764145 129764146 LAMA2_00092 + LAMA2:c.5530C>A chr6 129764182 129764183 LAMA2_00133 + LAMA2:c.5562+5G>A chr6 129764182 129764183 LAMA2_00049 + LAMA2:c.5562+5G>C chr6 129765252 129765253 LAMA2_00050 + LAMA2:c.5654delA chr6 129765312 129765313 LAMA2_00125 + LAMA2:c.5714C>G chr6 129766634 129766638 LAMA2_00171 + LAMA2:c.5727-24_5727-21delinsACTG chr6 129766796 129766797 LAMA2_00051 + LAMA2:c.5865delG chr6 129766971 129766972 LAMA2_00172 + LAMA2:c.5865+175A>C chr6 129803720 129803721 LAMA2_00102 + LAMA2:c.6153A>T chr6 129803804 129803805 LAMA2_00052 + LAMA2:c.6237G>A chr6 129803912 129803913 LAMA2_00173 + LAMA2:c.6268+77C>T chr6 129815845 129815846 LAMA2_00126 + LAMA2:c.6450A>T chr6 129815854 129815855 LAMA2_00103 + LAMA2:c.6459C>T chr6 129817162 129817163 LAMA2_00174 + LAMA2:c.6707+37T>C chr6 129819074 129819075 LAMA2_00175 + LAMA2:c.6708-98C>T chr6 129819332 129819333 LAMA2_00053 + LAMA2:c.6867+1G>A chr6 129822884 129822885 LAMA2_00176 + LAMA2:c.6868-153C>A chr6 129823088 129823090 LAMA2_00054 + LAMA2:c.6919_6920del chr6 129823117 129823118 LAMA2_00055 + LAMA2:c.6948G>A chr6 129823124 129823125 LAMA2_00056 + LAMA2:c.6955C>T chr6 129827125 129827126 LAMA2_00036 + LAMA2:c.6993-2A>C chr6 129827083 129827084 LAMA2_00177 + LAMA2:c.6993-44T>C chr6 129827129 129827130 LAMA2_00057 + LAMA2:c.6995delC chr6 129827205 129827206 LAMA2_00058 + LAMA2:c.7071G>A chr6 129827208 129827209 LAMA2_00059 + LAMA2:c.7074C>A chr6 129827281 129827282 LAMA2_00082 + LAMA2:c.7147C>T chr6 129828123 129828124 LAMA2_00191 + LAMA2:c.7297C>T chr6 129836127 129836128 LAMA2_00060 + LAMA2:c.7377dupT chr6 129836145 129836146 LAMA2_00104 + LAMA2:c.7395T>C chr6 129836185 129836187 LAMA2_00061 + LAMA2:c.7435_7436del chr6 129841568 129841572 LAMA2_00005 + LAMA2:c.7490_7493dup chr6 129844141 129844142 LAMA2_00105 + LAMA2:c.7614G>A chr6 129844147 129844148 LAMA2_00093 + LAMA2:c.7620C>G chr6 129844185 129844186 LAMA2_00062 + LAMA2:c.7658delC chr6 129844188 129844189 LAMA2_00127 + LAMA2:c.7661T>C chr6 129844218 129844219 LAMA2_00063 + LAMA2:c.7691T>C chr6 129844259 129844260 LAMA2_00146 + LAMA2:c.7732C>T chr6 129847598 129852586 LAMA2_00149 + LAMA2:c.7750-1713_7899-2153del chr6 129849175 129849176 LAMA2_00178 + LAMA2:c.7750-136C>G chr6 129849311 129849460 LAMA2_00064 + LAMA2:c.7750-?_7898+?del chr6 129849317 129849318 LAMA2_00107 + LAMA2:c.7756T>C chr6 129849321 129849322 LAMA2_00065 + LAMA2:c.7760C>T chr6 129849371 129849372 LAMA2_00066 + LAMA2:c.7810C>T chr6 129849391 129849392 LAMA2_00067 + LAMA2:c.7830G>C chr6 129849401 129849402 LAMA2_00106 + LAMA2:c.7840G>A chr6 129849406 129849407 LAMA2_00089 + LAMA2:c.7845G>A chr6 129849442 129849443 LAMA2_00068 + LAMA2:c.7881T>G chr6 129849561 129849562 LAMA2_00179 + LAMA2:c.7898+102C>A chr6 129854745 129854746 LAMA2_00069 + LAMA2:c.7906A>G chr6 129854768 129854769 LAMA2_00128 + LAMA2:c.7929A>G chr6 129854846 129854847 LAMA2_00140 + LAMA2:c.8007delT chr6 129854915 129854917 LAMA2_00145 + LAMA2:c.8075+1_8075+2del chr6 129855128 129855129 LAMA2_00180 + LAMA2:c.8076-24dupA chr6 129855200 129855201 LAMA2_00129 + LAMA2:c.8124T>A chr6 129855321 129855322 LAMA2_00150 + LAMA2:c.8244+1G>A chr6 129865337 129865338 LAMA2_00074 + LAMA2:c.8245-159A>G chr6 129865516 129865517 LAMA2_00070 + LAMA2:c.8265delA chr6 129868075 129868076 LAMA2_00130 + LAMA2:c.8586T>C chr6 129868180 129868181 LAMA2_00072 + LAMA2:c.8691A>G chr6 129870398 129870415 LAMA2_00151 + LAMA2:c.8776_8792del chr6 129875267 129875268 LAMA2_00131 + LAMA2:c.8925A>T chr6 129877322 129877326 LAMA2_00077 + LAMA2:c.9101_9104dup chr6 129877506 129877507 LAMA2_00075 + LAMA2:c.9211+74G>A chr6 129879050 129879054 LAMA2_00192 + LAMA2:c.9235_9238dup chr6 129879068 129879069 LAMA2_00078 + LAMA2:c.9253C>T chr6 129879468 129879472 LAMA2_00071 + LAMA2:c.*62_*65dup chr6 129879524 129879525 LAMA2_00076 + LAMA2:c.*118T>C chr6 129879599 129879602 LAMA2_00079 + LAMA2:c.*193_*195dup chr22 32482079 32482080 LARGE_00008 - LARGE:c.-63C>T chr22 32371103 32371104 LARGE_00013 - LARGE:c.211G>A chr22 32371005 32371006 LARGE_00021 - LARGE:c.309C>A chr22 32346882 32346883 LARGE_00022 - LARGE:c.409-19C>T chr22 32346837 32346838 LARGE_00014 - LARGE:c.435C>T chr22 32059728 32122820 LARGE_00003 - LARGE:c.893-17976_1132-1388del chr22 32102497 32102498 LARGE_00004 - LARGE:c.1092C>T chr22 32058080 32058081 LARGE_00005 - LARGE:c.1287+105G>C chr22 32058039 32058040 LARGE_00006 - LARGE:c.1287+146C>T chr22 32036644 32036645 LARGE_00016 - LARGE:c.1431C>T chr22 32036586 32036587 LARGE_00007 - LARGE:c.1451+38C>T chr22 32025033 32025034 LARGE_00001 - LARGE:c.1465G>A chr22 32024950 32024951 LARGE_00017 - LARGE:c.1548C>G chr22 32024858 32024859 LARGE_00018 - LARGE:c.1640G>A chr22 32003791 32003792 LARGE_00019 - LARGE:c.1827A>T chr22 31997818 31997819 LARGE_00009 - LARGE:c.1878-24A>G chr22 31997733 31997735 LARGE_00002 - LARGE:c.1938_1939insT chr22 31997678 31997679 LARGE_00010 - LARGE:c.1994G>A chr22 31997563 31997564 LARGE_00011 - LARGE:c.2073+36C>T chr22 31995137 31995138 LARGE_00012 - LARGE:c.2100C>T chr1 152863441 152895533 LMNA_00209 + LMNA:c.-31735+?_357-?del chr1 152897533 152923932 LMNA_00098 + LMNA:c.-249-?_*981+?del chr1 152897654 152897655 LMNA_00159 + LMNA:c.-128T>C chr1 152895173 152895188 LMNA_00151 + LMNA:c.-3_12del chr1 152897786 152897787 LMNA_00136 + LMNA:c.5A>G chr1 152897797 152897798 LMNA_00001 + LMNA:c.16C>T chr1 152897810 152897811 LMNA_00108 + LMNA:c.29C>T chr1 152897832 152897833 LMNA_00135 + LMNA:c.51C>T chr1 152897846 152897847 LMNA_00153 + LMNA:c.65C>T chr1 152897854 152897855 LMNA_00092 + LMNA:c.73C>G chr1 152897855 152897856 LMNA_00064 + LMNA:c.74G>C chr1 152897858 152897859 LMNA_00213 + LMNA:c.77T>G chr1 152897861 152897862 LMNA_00132 + LMNA:c.80C>T chr1 152897863 152897864 LMNA_00052 + LMNA:c.82C>T chr1 152897875 152897878 LMNA_00059 + LMNA:c.94_96del chr1 152897880 152897881 LMNA_00104 + LMNA:c.99G>T chr1 152897884 152897885 LMNA_00093 + LMNA:c.103C>G chr1 152897908 152897909 LMNA_00066 + LMNA:c.127G>A chr1 152897911 152897912 LMNA_00060 + LMNA:c.130G>T chr1 152897915 152897916 LMNA_00036 + LMNA:c.134A>G chr1 152897920 152897921 LMNA_00179 + LMNA:c.139G>C chr1 152897929 152897930 LMNA_00065 + LMNA:c.148C>A chr1 152897930 152897931 LMNA_00037 + LMNA:c.149G>C chr1 152897936 152897937 LMNA_00211 + LMNA:c.155T>C chr1 152897939 152897940 LMNA_00190 + LMNA:c.158A>T chr1 152897950 152897951 LMNA_00087 + LMNA:c.169G>C chr1 152897957 152897958 LMNA_00208 + LMNA:c.176T>G chr1 152897959 152897960 LMNA_00005 + LMNA:c.178C>G chr1 152897965 152897966 LMNA_00053 + LMNA:c.184C>G chr1 152897969 152897970 LMNA_00071 + LMNA:c.188T>A chr1 152897969 152897970 LMNA_00038 + LMNA:c.188T>G chr1 152897975 152897976 LMNA_00100 + LMNA:c.194A>G chr1 152897984 152897990 LMNA_00171 + LMNA:c.203_208del chr1 152898025 152898026 LMNA_00170 + LMNA:c.244G>A chr1 152898035 152898036 LMNA_00006 + LMNA:c.254T>G chr1 152898047 152898048 LMNA_00128 + LMNA:c.266G>T chr1 152898054 152898055 LMNA_00167 + LMNA:c.273C>A chr1 152898070 152898071 LMNA_00054 + LMNA:c.289A>G chr1 152898083 152898084 LMNA_00192 + LMNA:c.302G>C chr1 152898112 152898113 LMNA_00055 + LMNA:c.331G>T chr1 152898115 152898118 LMNA_00039 + LMNA:c.334_336del chr1 152913479 152913480 LMNA_00193 + LMNA:c.357-1G>T chr1 152913521 152913522 LMNA_00067 + LMNA:c.398G>C chr1 152913521 152913522 LMNA_00086 + LMNA:c.398G>T chr1 152913528 152913549 LMNA_00188 + LMNA:c.405_425dup chr1 152913535 152913536 LMNA_00178 + LMNA:c.412G>A chr1 152913542 152913543 LMNA_00088 + LMNA:c.419T>G chr1 152913551 152913552 LMNA_00133 + LMNA:c.428C>T chr1 152913556 152913557 LMNA_00078 + LMNA:c.433G>A chr1 152913571 152913572 LMNA_00029 + LMNA:c.448A>C chr1 152913594 152913595 LMNA_00114 + LMNA:c.471G>A chr1 152913604 152913605 LMNA_00089 + LMNA:c.481G>A chr1 152913620 152913621 LMNA_00194 + LMNA:c.497G>C chr1 152913636 152913637 LMNA_00075 + LMNA:c.513G>A chr1 152913645 152913646 LMNA_00134 + LMNA:c.513+9A>G chr1 152917308 152917309 LMNA_00191 + LMNA:c.556G>A chr1 152917320 152917321 LMNA_00056 + LMNA:c.568C>T chr1 152917321 152917322 LMNA_00195 + LMNA:c.569G>A chr1 152917335 152917336 LMNA_00154 + LMNA:c.583A>G chr1 152917337 152917338 LMNA_00007 + LMNA:c.585C>G chr1 152917340 152917349 LMNA_00068 + LMNA:c.588_596del chr1 152917359 152917360 LMNA_00175 + LMNA:c.607G>A chr1 152917360 152917361 LMNA_00008 + LMNA:c.608A>G chr1 152917364 152917365 LMNA_00080 + LMNA:c.612G>A chr1 152917376 152917379 LMNA_00018 + LMNA:c.624_626del chr1 152917381 152917382 LMNA_00196 + LMNA:c.629T>G chr1 152917447 152917448 LMNA_00137 + LMNA:c.639+56G>A chr1 152917464 152917465 LMNA_00138 + LMNA:c.639+73C>T chr1 152917658 152917659 LMNA_00129 + LMNA:c.640-10A>C chr1 152917658 152917659 LMNA_00150 + LMNA:c.640-10A>G chr1 152917672 152917673 LMNA_00197 + LMNA:c.644T>C chr1 152917692 152917693 LMNA_00014 + LMNA:c.664C>T chr1 152917693 152917694 LMNA_00040 + LMNA:c.665A>C chr1 152917701 152917702 LMNA_00176 + LMNA:c.673C>T chr1 152917719 152917720 LMNA_00139 + LMNA:c.691A>C chr1 152917722 152917723 LMNA_00180 + LMNA:c.694G>A chr1 152917723 152917724 LMNA_00041 + LMNA:c.695G>A chr1 152917728 152917729 LMNA_00198 + LMNA:c.700C>T chr1 152917771 152917772 LMNA_00069 + LMNA:c.743T>C chr1 152917774 152917775 LMNA_00020 + LMNA:c.746G>A chr1 152917803 152917804 LMNA_00115 + LMNA:c.775T>G chr1 152917805 152917806 LMNA_00101 + LMNA:c.777T>A chr1 152917808 152917809 LMNA_00173 + LMNA:c.780G>C chr1 152917809 152917812 LMNA_00030 + LMNA:c.781_783del chr1 152917809 152917812 LMNA_00184 + LMNA:c.781_783delins15 chr1 152917828 152917829 LMNA_00094 + LMNA:c.800A>G chr1 152917839 152917840 LMNA_00206 + LMNA:c.810+1G>T chr1 152917851 152917852 LMNA_00140 + LMNA:c.810+13G>T chr1 152917899 152917900 LMNA_00081 + LMNA:c.810+61C>T chr1 152918037 152918038 LMNA_00189 + LMNA:c.811-13T>A chr1 152918040 152918041 LMNA_00130 + LMNA:c.811-10T>A chr1 152918051 152918052 LMNA_00177 + LMNA:c.812T>C chr1 152918071 152918072 LMNA_00168 + LMNA:c.832G>C chr1 152918098 152918099 LMNA_00126 + LMNA:c.859delG chr1 152918100 152918101 LMNA_00032 + LMNA:c.861T>C chr1 152918103 152918107 LMNA_00161 + LMNA:c.864_867del chr1 152918120 152918121 LMNA_00042 + LMNA:c.881A>C chr1 152918131 152918132 LMNA_00048 + LMNA:c.892C>T chr1 152918138 152918139 LMNA_00091 + LMNA:c.899A>G chr1 152918147 152918149 LMNA_00085 + LMNA:c.908_909del chr1 152918175 152918176 LMNA_00061 + LMNA:c.936G>C chr1 152918176 152918177 LMNA_00174 + LMNA:c.936+1G>T chr1 152918681 152918682 LMNA_00143 + LMNA:c.937-83G>T chr1 152918776 152918777 LMNA_00057 + LMNA:c.949G>A chr1 152918779 152918780 LMNA_00199 + LMNA:c.952G>A chr1 152918787 152918788 LMNA_00013 + LMNA:c.960delT chr1 152918803 152918804 LMNA_00185 + LMNA:c.976T>A chr1 152918819 152918820 LMNA_00120 + LMNA:c.992G>A chr1 152918830 152918831 LMNA_00127 + LMNA:c.1003C>T chr1 152918834 152918835 LMNA_00021 + LMNA:c.1007G>A chr1 152918849 152918850 LMNA_00141 + LMNA:c.1022A>C chr1 152918855 152918856 LMNA_00062 + LMNA:c.1028G>A chr1 152918866 152918867 LMNA_00073 + LMNA:c.1039G>A chr1 152918875 152918876 LMNA_00181 + LMNA:c.1048G>C chr1 152918890 152918891 LMNA_00152 + LMNA:c.1063C>T chr1 152918894 152918895 LMNA_00155 + LMNA:c.1067T>G chr1 152918899 152918900 LMNA_00043 + LMNA:c.1072G>A chr1 152918939 152918940 LMNA_00044 + LMNA:c.1112T>A chr1 152918941 152918942 LMNA_00200 + LMNA:c.1114delG chr1 152918956 152918957 LMNA_00063 + LMNA:c.1129C>T chr1 152918957 152918958 LMNA_00017 + LMNA:c.1130G>A chr1 152918957 152918958 LMNA_00051 + LMNA:c.1130G>T chr1 152918971 152918972 LMNA_00156 + LMNA:c.1144G>C chr1 152918973 152918974 LMNA_00116 + LMNA:c.1146C>T chr1 152918984 152918985 LMNA_00045 + LMNA:c.1157G>A chr1 152919000 152919001 LMNA_00050 + LMNA:c.1157+16G>A chr1 152919033 152919034 LMNA_00169 + LMNA:c.1158-44C>T chr1 152919034 152919035 LMNA_00142 + LMNA:c.1158-43A>G chr1 152919039 152919040 LMNA_00131 + LMNA:c.1158-38G>A chr1 152919082 152919083 LMNA_00201 + LMNA:c.1163G>A chr1 152919114 152919115 LMNA_00202 + LMNA:c.1195C>T chr1 152919120 152919121 LMNA_00072 + LMNA:c.1201C>T chr1 152919222 152919223 LMNA_00099 + LMNA:c.1303C>T chr1 152919223 152919227 LMNA_00203 + LMNA:c.1304_1307dup chr1 152919237 152919238 LMNA_00035 + LMNA:c.1318G>A chr1 152919256 152919257 LMNA_00095 + LMNA:c.1337A>T chr1 152919257 152919258 LMNA_00033 + LMNA:c.1338T>C chr1 152919276 152919277 LMNA_00002 + LMNA:c.1357C>T chr1 152919287 152919288 LMNA_00046 + LMNA:c.1368C>A chr1 152919287 152919290 LMNA_00123 + LMNA:c.1368_1370delCAA chr1 152919289 152919290 LMNA_00125 + LMNA:c.1370delA chr1 152919294 152919295 LMNA_00182 + LMNA:c.1375A>T chr1 152919797 152919798 LMNA_00015 + LMNA:c.1394G>A chr1 152919799 152919800 LMNA_00212 + LMNA:c.1396A>G chr1 152919800 152919801 LMNA_00022 + LMNA:c.1397delA chr1 152919809 152919810 LMNA_00023 + LMNA:c.1406T>C chr1 152919814 152919815 LMNA_00082 + LMNA:c.1411C>T chr1 152919815 152919816 LMNA_00204 + LMNA:c.1412G>A chr1 152919825 152919828 LMNA_00205 + LMNA:c.1422_1424dup chr1 152919844 152919845 LMNA_00107 + LMNA:c.1441T>C chr1 152919847 152919848 LMNA_00011 + LMNA:c.1444C>T chr1 152919848 152919849 LMNA_00010 + LMNA:c.1445G>A chr1 152919848 152919849 LMNA_00012 + LMNA:c.1445G>T chr1 152919861 152919862 LMNA_00024 + LMNA:c.1458G>C chr1 152919861 152919862 LMNA_00025 + LMNA:c.1458G>T chr1 152919896 152919897 LMNA_00210 + LMNA:c.1488+5G>C chr1 152919935 152919936 LMNA_00079 + LMNA:c.1489-41C>T chr1 152919981 152919982 LMNA_00121 + LMNA:c.1494G>T chr1 152920013 152920014 LMNA_00172 + LMNA:c.1526dup chr1 152920022 152920023 LMNA_00119 + LMNA:c.1535T>C chr1 152920038 152920039 LMNA_00117 + LMNA:c.1551G>A chr1 152920046 152920047 LMNA_00047 + LMNA:c.1559G>C chr1 152920063 152920067 LMNA_00058 + LMNA:c.1576_1579dup chr1 152920066 152920067 LMNA_00084 + LMNA:c.1579C>T chr1 152920067 152920068 LMNA_00049 + LMNA:c.1580G>A chr1 152920067 152920068 LMNA_00003 + LMNA:c.1580G>C chr1 152920070 152920071 LMNA_00026 + LMNA:c.1583C>A chr1 152920070 152920071 LMNA_00096 + LMNA:c.1583C>G chr1 152920070 152920071 LMNA_00106 + LMNA:c.1583C>T chr1 152920073 152920074 LMNA_00162 + LMNA:c.1586C>T chr1 152920076 152920077 LMNA_00004 + LMNA:c.1589T>C chr1 152920099 152920100 LMNA_00157 + LMNA:c.1608+4A>G chr1 152920100 152920101 LMNA_00019 + LMNA:c.1608+5G>C chr1 152920527 152920528 LMNA_00186 + LMNA:c.1619T>C chr1 152920514 152920515 LMNA_00166 + LMNA:c.1609-3C>G chr1 152920529 152920530 LMNA_00113 + LMNA:c.1621C>T chr1 152920530 152920531 LMNA_00097 + LMNA:c.1622G>A chr1 152920534 152920535 LMNA_00110 + LMNA:c.1626G>C chr1 152920591 152920592 LMNA_00118 + LMNA:c.1683G>C chr1 152920606 152920607 LMNA_00027 + LMNA:c.1698C>T chr1 152920619 152920620 LMNA_00009 + LMNA:c.1698+13C>A chr1 152920619 152920620 LMNA_00160 + LMNA:c.1698+13C>T chr1 152920689 152920690 LMNA_00124 + LMNA:c.1698+83G>A chr1 152921370 152921371 LMNA_00122 + LMNA:c.1718C>T chr1 152921385 152921386 LMNA_00109 + LMNA:c.1733A>T chr1 152921397 152921398 LMNA_00016 + LMNA:c.1745G>A chr1 152921400 152921401 LMNA_00214 + LMNA:c.1748C>T chr1 152921403 152921404 LMNA_00031 + LMNA:c.1751G>A chr1 152921413 152921414 LMNA_00207 + LMNA:c.1761G>A chr1 152921438 152921439 LMNA_00163 + LMNA:c.1786G>A chr1 152921474 152921475 LMNA_00083 + LMNA:c.1822G>A chr1 152921476 152921477 LMNA_00076 + LMNA:c.1824C>T chr1 152921503 152921504 LMNA_00164 + LMNA:c.1851C>T chr1 152921520 152921521 LMNA_00105 + LMNA:c.1868C>G chr1 152921523 152921524 LMNA_00070 + LMNA:c.1871G>A chr1 152921523 152921524 LMNA_00144 + LMNA:c.1871G>T chr1 152921556 152921557 LMNA_00183 + LMNA:c.1904G>A chr1 152921582 152921583 LMNA_00034 + LMNA:c.1930C>T chr1 152921583 152921584 LMNA_00158 + LMNA:c.1931G>A chr1 152921612 152921613 LMNA_00187 + LMNA:c.1960C>T chr1 152921621 152921622 LMNA_00111 + LMNA:c.1968+1G>A chr1 152921646 152921647 LMNA_00165 + LMNA:c.1968+26A>G chr1 152922048 152922049 LMNA_00103 + LMNA:c.2074G>C chr1 152922109 152922110 LMNA_00028 + LMNA:c.2135T>G chr1 152922116 152922117 LMNA_00145 + LMNA:c.2142T>A chr1 152922161 152922162 LMNA_00102 + LMNA:c.2187A>C chr1 152922310 152922311 LMNA_00146 + LMNA:c.2336G>T chr1 152922708 152922709 LMNA_00147 + LMNA:c.2734G>A chr1 152922884 152922885 LMNA_00148 + LMNA:c.2910C>T chr1 152922993 152922994 LMNA_00149 + LMNA:c.3019C>T chr5 137231501 137231502 MYOT_00015 + MYOT:c.-251A>G chr5 137234115 137234116 MYOT_00004 + MYOT:c.-124T>G chr5 137234344 137234345 MYOT_00012 + MYOT:c.106A>G chr5 137234354 137234355 MYOT_00011 + MYOT:c.116C>T chr5 137234387 137234388 MYOT_00010 + MYOT:c.149A>G chr5 137234402 137234403 MYOT_00003 + MYOT:c.164C>T chr5 137234408 137234409 MYOT_00001 + MYOT:c.170C>T chr5 137234417 137234418 MYOT_00007 + MYOT:c.179C>G chr5 137234417 137234418 MYOT_00008 + MYOT:c.179C>T chr5 137234458 137234459 MYOT_00013 + MYOT:c.220C>A chr5 137234522 137234523 MYOT_00009 + MYOT:c.284G>T chr5 137234581 137234582 MYOT_00014 + MYOT:c.343G>A chr5 137239541 137239542 MYOT_00005 + MYOT:c.482T>G chr5 137250537 137250538 MYOT_00006 + MYOT:c.1325-47T>C chr5 137251070 137251071 MYOT_00002 + MYOT:c.*98G>A chr1 46375523 46375524 POMGNT1_00040 - POMGNT1:c.1-11G>A chr1 46374709 46374710 POMGNT1_00009 - POMGNT1:c.187C>T chr1 46374628 46374629 POMGNT1_00041 - POMGNT1:c.235+33T>G chr1 46373795 46373796 POMGNT1_00042 - POMGNT1:c.355-27C>T chr1 46373589 46373590 POMGNT1_00015 - POMGNT1:c.447delT chr1 46373589 46373590 POMGNT1_00028 - POMGNT1:c.447dupT chr1 46373578 46373579 POMGNT1_00046 - POMGNT1:c.458C>G chr1 46373510 46373511 POMGNT1_00043 - POMGNT1:c.526A>C chr1 46372551 46372552 POMGNT1_00030 - POMGNT1:c.636C>T chr1 46372534 46372535 POMGNT1_00044 - POMGNT1:c.652+1G>A chr1 46372328 46372329 POMGNT1_00016 - POMGNT1:c.667G>A chr1 46372314 46372315 POMGNT1_00045 - POMGNT1:c.681A>G chr1 46372050 46372051 POMGNT1_00019 - POMGNT1:c.794G>A chr1 46372037 46372040 POMGNT1_00047 - POMGNT1:c.805_807del chr1 46372038 46372039 POMGNT1_00048 - POMGNT1:c.806G>A chr1 46371960 46371961 POMGNT1_00026 - POMGNT1:c.879+5G>A chr1 46371960 46371961 POMGNT1_00025 - POMGNT1:c.879+5G>T chr1 46371564 46371565 POMGNT1_00008 - POMGNT1:c.932G>A chr1 46371299 46371300 POMGNT1_00017 - POMGNT1:c.982dupG chr1 46371270 46371271 POMGNT1_00018 - POMGNT1:c.1011dupT chr1 46371006 46371007 POMGNT1_00032 - POMGNT1:c.1100G>A chr1 46370929 46370930 POMGNT1_00033 - POMGNT1:c.1111-23C>T chr1 46370219 46370220 POMGNT1_00012 - POMGNT1:c.1274G>C chr1 46370214 46370215 POMGNT1_00029 - POMGNT1:c.1279G>C chr1 46370129 46370130 POMGNT1_00021 - POMGNT1:c.1285-2A>G chr1 46370088 46370089 POMGNT1_00007 - POMGNT1:c.1324C>T chr1 46370087 46370088 POMGNT1_00014 - POMGNT1:c.1325G>A chr1 46369903 46369904 POMGNT1_00034 - POMGNT1:c.1425G>A chr1 46369859 46369860 POMGNT1_00022 - POMGNT1:c.1469G>A chr1 46369850 46369851 POMGNT1_00005 - POMGNT1:c.1478C>G chr1 46369788 46369789 POMGNT1_00002 - POMGNT1:c.1539+1G>A chr1 46369788 46369789 POMGNT1_00001 - POMGNT1:c.1539+1G>T chr1 46368477 46368478 POMGNT1_00020 - POMGNT1:c.1540-2A>G chr1 46368164 46368165 POMGNT1_00003 - POMGNT1:c.1649G>A chr1 46367664 46367665 POMGNT1_00035 - POMGNT1:c.1666G>A chr1 46367611 46367612 POMGNT1_00004 - POMGNT1:c.1719delC chr1 46367561 46367562 POMGNT1_00023 - POMGNT1:c.1769G>A chr1 46367543 46367544 POMGNT1_00036 - POMGNT1:c.1785+2T>G chr1 46367514 46367515 POMGNT1_00037 - POMGNT1:c.1785+31C>A chr1 46367230 46367231 POMGNT1_00031 - POMGNT1:c.1814G>A chr1 46367212 46367213 POMGNT1_00011 - POMGNT1:c.1832delT chr1 46367177 46367178 POMGNT1_00038 - POMGNT1:c.1867A>G chr1 46367168 46367169 POMGNT1_00006 - POMGNT1:c.1876delG chr1 46367148 46367149 POMGNT1_00027 - POMGNT1:c.1895+1G>A chr1 46367148 46367149 POMGNT1_00024 - POMGNT1:c.1895+1G>T chr1 46367141 46367145 POMGNT1_00013 - POMGNT1:c.1895+5_1895+8del chr1 46367119 46367120 POMGNT1_00039 - POMGNT1:c.1895+30A>G chr9 131409153 131409154 POMT1_00045 + POMT1:c.-6T>G chr9 131409243 131409244 POMT1_00048 + POMT1:c.85A>C chr9 131409275 131409276 POMT1_00064 + POMT1:c.122-5dupT chr9 131409697 131409699 POMT1_00046 + POMT1:c.122+417GT(17_21) chr9 131411049 131411050 POMT1_00052 + POMT1:c.123-5dupT chr9 131411060 131411061 POMT1_00065 + POMT1:c.129C>T chr9 131411124 131411125 POMT1_00016 + POMT1:c.193G>A chr9 131411157 131411158 POMT1_00002 + POMT1:c.226G>A chr9 131411394 131411395 POMT1_00090 + POMT1:c.280+1G>T chr9 131412226 131412227 POMT1_00053 + POMT1:c.281-82C>T chr9 131412340 131412341 POMT1_00025 + POMT1:c.313C>T chr9 131412341 131412342 POMT1_00026 + POMT1:c.314G>A chr9 131412345 131412346 POMT1_00066 + POMT1:c.318G>A chr9 131412445 131412448 POMT1_00020 + POMT1:c.418_420del chr9 131412454 131412455 POMT1_00023 + POMT1:c.427G>A chr9 131412454 131412455 POMT1_00067 + POMT1:c.427G>T chr9 131413830 131413831 POMT1_00054 + POMT1:c.428-21T>C chr9 131413940 131413947 POMT1_00069 + POMT1:c.517_523delinsG chr9 131414741 131414742 POMT1_00001 + POMT1:c.598G>C chr9 131414857 131414858 POMT1_00027 + POMT1:c.620G>T chr9 131414955 131414956 POMT1_00030 + POMT1:c.718T>G chr9 131414976 131414977 POMT1_00031 + POMT1:c.739A>G chr9 131414988 131414989 POMT1_00032 + POMT1:c.751C>T chr9 131414989 131414990 POMT1_00033 + POMT1:c.752G>A chr9 131415157 131415158 POMT1_00071 + POMT1:c.766-43T>G chr9 131415252 131415253 POMT1_00049 + POMT1:c.818C>T chr9 131415289 131415290 POMT1_00034 + POMT1:c.855G>C chr9 131415339 131415340 POMT1_00073 + POMT1:c.905T>G chr9 131415341 131415342 POMT1_00003 + POMT1:c.907C>T chr9 131416212 131416213 POMT1_00056 + POMT1:c.922-65G>A chr9 131416228 131416229 POMT1_00057 + POMT1:c.922-49T>G chr9 131416297 131416298 POMT1_00014 + POMT1:c.942C>T chr9 131416312 131416313 POMT1_00050 + POMT1:c.957G>A chr9 131416334 131416335 POMT1_00035 + POMT1:c.979G>A chr9 131416456 131416457 POMT1_00058 + POMT1:c.1052+49G>A chr9 131416868 131416869 POMT1_00076 + POMT1:c.1053-113C>G chr9 131416879 131416880 POMT1_00075 + POMT1:c.1053-102G>A chr9 131416942 131416943 POMT1_00077 + POMT1:c.1053-39C>T chr9 131416984 131416985 POMT1_00043 + POMT1:c.1056T>A chr9 131417009 131417010 POMT1_00078 + POMT1:c.1081C>T chr9 131417032 131417033 POMT1_00024 + POMT1:c.1104delC chr9 131417041 131417042 POMT1_00036 + POMT1:c.1113C>T chr9 131417092 131417093 POMT1_00006 + POMT1:c.1148+16G>A chr9 131417121 131417122 POMT1_00079 + POMT1:c.1148+45C>G chr9 131418115 131418116 POMT1_00060 + POMT1:c.1149-64C>T chr9 131418177 131418178 POMT1_00021 + POMT1:c.1149-2A>G chr9 131418183 131418184 POMT1_00011 + POMT1:c.1153C>T chr9 131418272 131418273 POMT1_00089 + POMT1:c.1241+1G>A chr9 131418369 131418371 POMT1_00007 + POMT1:c.1241+98_1241+99del chr9 131420384 131420387 POMT1_00005 + POMT1:c.1260_1262del chr9 131420407 131420408 POMT1_00012 + POMT1:c.1283T>A chr9 131420423 131420424 POMT1_00037 + POMT1:c.1299C>A chr9 131420456 131420457 POMT1_00028 + POMT1:c.1332delG chr9 131420546 131420547 POMT1_00081 + POMT1:c.1338+84C>T chr9 131423716 131423717 POMT1_00061 + POMT1:c.1432-61A>G chr9 131423801 131423802 POMT1_00029 + POMT1:c.1456delT chr9 131423885 131423886 POMT1_00018 + POMT1:c.1540C>T chr9 131424341 131424342 POMT1_00038 + POMT1:c.1565G>A chr9 131424387 131424388 POMT1_00044 + POMT1:c.1611C>G chr9 131425115 131425116 POMT1_00017 + POMT1:c.1746G>C chr9 131425127 131425128 POMT1_00039 + POMT1:c.1758G>A chr9 131425181 131425182 POMT1_00008 + POMT1:c.1764+48C>G chr9 131425240 131425241 POMT1_00009 + POMT1:c.1764+107C>A chr9 131426279 131426281 POMT1_00040 + POMT1:c.1765-7_1765-6delinsAA chr9 131426291 131426292 POMT1_00019 + POMT1:c.1770G>C chr9 131426368 131426371 POMT1_00051 + POMT1:c.1847_1849del chr9 131426385 131426386 POMT1_00047 + POMT1:c.1864C>T chr9 131426389 131426390 POMT1_00083 + POMT1:c.1868G>C chr9 131427017 131427018 POMT1_00041 + POMT1:c.1922C>T chr9 131427100 131427101 POMT1_00084 + POMT1:c.2005G>A chr9 131427177 131427178 POMT1_00010 + POMT1:c.2069+13C>T chr9 131427802 131427803 POMT1_00063 + POMT1:c.2070-70C>T chr9 131427899 131427900 POMT1_00042 + POMT1:c.2097C>T chr9 131427912 131427913 POMT1_00004 + POMT1:c.2110dupG chr9 131427969 131427970 POMT1_00013 + POMT1:c.2167dupG chr9 131427976 131427977 POMT1_00022 + POMT1:c.2174C>G chr9 131427981 131427983 POMT1_00085 + POMT1:c.2179_2180del chr9 131428005 131428006 POMT1_00086 + POMT1:c.2203C>T chr9 131428051 131428052 POMT1_00087 + POMT1:c.*5A>G chr9 131428087 131428088 POMT1_00015 + POMT1:c.*41C>T chr14 76856820 76856824 POMT2_00041 - POMT2:c.-47_-44del chr14 76856616 76856617 POMT2_00006 - POMT2:c.161C>A chr14 76856615 76856616 POMT2_00007 - POMT2:c.162G>T chr14 76848090 76848091 POMT2_00040 - POMT2:c.287A>G chr14 76840993 76840994 POMT2_00029 - POMT2:c.439-98A>T chr14 76840940 76840941 POMT2_00028 - POMT2:c.439-45C>T chr14 76839115 76839116 POMT2_00030 - POMT2:c.548-77C>G chr14 76839035 76839036 POMT2_00038 - POMT2:c.551C>T chr14 76838993 76838994 POMT2_00039 - POMT2:c.593T>A chr14 76837205 76837206 POMT2_00046 - POMT2:c.796G>A chr14 76837194 76837195 POMT2_00044 - POMT2:c.807T>G chr14 76837134 76837135 POMT2_00045 - POMT2:c.816+51T>C chr14 76835682 76835683 POMT2_00031 - POMT2:c.817-26C>T chr14 76834783 76834784 POMT2_00002 - POMT2:c.1006+1G>A chr14 76832414 76832415 POMT2_00015 - POMT2:c.1007-46C>T chr14 76832400 76832401 POMT2_00014 - POMT2:c.1007-32G>A chr14 76832324 76832325 POMT2_00032 - POMT2:c.1051delG chr14 76832318 76832319 POMT2_00004 - POMT2:c.1057G>A chr14 76832311 76832312 POMT2_00047 - POMT2:c.1064T>C chr14 76832224 76832225 POMT2_00017 - POMT2:c.1116+35A>G chr14 76832168 76832169 POMT2_00018 - POMT2:c.1116+91C>T chr14 76832094 76832095 POMT2_00016 - POMT2:c.1116+165C>T chr14 76827495 76827496 POMT2_00019 - POMT2:c.1117-20C>T chr14 76827475 76827476 POMT2_00033 - POMT2:c.1117G>T chr14 76824872 76824873 POMT2_00034 - POMT2:c.1238G>C chr14 76822910 76822911 POMT2_00003 - POMT2:c.1261delC chr14 76821677 76821678 POMT2_00008 - POMT2:c.1383G>A chr14 76819854 76819855 POMT2_00020 - POMT2:c.1653+38G>A chr14 76816599 76816600 POMT2_00021 - POMT2:c.1654-41G>C chr14 76816564 76816565 POMT2_00022 - POMT2:c.1654-6A>G chr14 76816436 76816437 POMT2_00023 - POMT2:c.1725+51G>C chr14 76816132 76816133 POMT2_00012 - POMT2:c.1769A>G chr14 76815928 76815929 POMT2_00026 - POMT2:c.1881G>A chr14 76815919 76815920 POMT2_00024 - POMT2:c.1890A>G chr14 76814945 76814946 POMT2_00009 - POMT2:c.1911T>G chr14 76814944 76814945 POMT2_00001 - POMT2:c.1912C>T chr14 76814859 76814860 POMT2_00013 - POMT2:c.1997A>G chr14 76814589 76814590 POMT2_00035 - POMT2:c.2047A>C chr14 76813594 76813595 POMT2_00027 - POMT2:c.2148-18A>G chr14 76813574 76813575 POMT2_00036 - POMT2:c.2150T>C chr14 76813547 76813548 POMT2_00005 - POMT2:c.2177G>A chr14 76813481 76813482 POMT2_00037 - POMT2:c.2243G>C chr14 76813396 76813397 POMT2_00010 - POMT2:c.*75C>T chr14 76812884 76812885 POMT2_00011 - POMT2:c.*587G>A chr14 76813482 76813483 POMT2_00043 - POMT2:c.2242T>C chr17 45598437 45598438 SGCA_00083 + SGCA:c.37+1G>C chr17 45598439 45598440 SGCA_00029 + SGCA:c.37+3A>T chr17 45598459 45598460 SGCA_00062 + SGCA:c.37+23G>T chr17 45598463 45598464 SGCA_00043 + SGCA:c.37+27A>G chr17 45598502 45598503 SGCA_00061 + SGCA:c.37+66C>T chr17 45599762 45599763 SGCA_00069 + SGCA:c.73C>T chr17 45599775 45599776 SGCA_00053 + SGCA:c.86dupA chr17 45599777 45599778 SGCA_00063 + SGCA:c.88C>A chr17 45599778 45599779 SGCA_00030 + SGCA:c.89C>T chr17 45599781 45599782 SGCA_00017 + SGCA:c.92T>C chr17 45599789 45599790 SGCA_00031 + SGCA:c.100C>T chr17 45599790 45599791 SGCA_00006 + SGCA:c.101G>A chr17 45599846 45599847 SGCA_00042 + SGCA:c.157G>A chr17 45599944 45599945 SGCA_00032 + SGCA:c.161delT chr17 45599967 45599968 SGCA_00007 + SGCA:c.184T>C chr17 45599986 45599987 SGCA_00008 + SGCA:c.203G>A chr17 45600003 45600004 SGCA_00038 + SGCA:c.220C>T chr17 45600012 45600013 SGCA_00003 + SGCA:c.229C>T chr17 45600021 45600022 SGCA_00011 + SGCA:c.238C>T chr17 45600024 45600025 SGCA_00072 + SGCA:c.241C>T chr17 45600033 45600034 SGCA_00080 + SGCA:c.250dupC chr17 45600048 45600049 SGCA_00081 + SGCA:c.265C>T chr17 45600049 45600051 SGCA_00039 + SGCA:c.266_267inv chr17 45600052 45600053 SGCA_00041 + SGCA:c.269A>G chr17 45600054 45600055 SGCA_00076 + SGCA:c.271G>A chr17 45600054 45600055 SGCA_00033 + SGCA:c.271G>C chr17 45600061 45600062 SGCA_00018 + SGCA:c.278C>T chr17 45600073 45600074 SGCA_00019 + SGCA:c.290A>G chr17 45600075 45600076 SGCA_00082 + SGCA:c.292C>A chr17 45600075 45600076 SGCA_00020 + SGCA:c.292C>T chr17 45600076 45600077 SGCA_00001 + SGCA:c.293G>A chr17 45600090 45600091 SGCA_00074 + SGCA:c.307A>T chr17 45600091 45600092 SGCA_00021 + SGCA:c.308T>C chr17 45600178 45600179 SGCA_00060 + SGCA:c.312+83C>T chr17 45600267 45600268 SGCA_00064 + SGCA:c.313-39C>A chr17 45600322 45600323 SGCA_00056 + SGCA:c.329G>T chr17 45600341 45600346 SGCA_00022 + SGCA:c.348_352dup chr17 45600364 45600365 SGCA_00023 + SGCA:c.371T>C chr17 45600749 45600750 SGCA_00040 + SGCA:c.402C>G chr17 45600755 45600757 SGCA_00004 + SGCA:c.408_409ins414_428 chr17 45600756 45600757 SGCA_00034 + SGCA:c.409G>A chr17 45600758 45600759 SGCA_00012 + SGCA:c.411dup 8bp chr17 45600768 45600769 SGCA_00052 + SGCA:c.421C>A chr17 45600779 45600780 SGCA_00065 + SGCA:c.432T>C chr17 45600799 45600800 SGCA_00013 + SGCA:c.452C>G chr17 45600811 45600812 SGCA_00091 + SGCA:c.464delG chr17 45600819 45600820 SGCA_00024 + SGCA:c.472C>T chr17 45600835 45600836 SGCA_00079 + SGCA:c.488dupG chr17 45600865 45600866 SGCA_00025 + SGCA:c.518T>C chr17 45600871 45600872 SGCA_00002 + SGCA:c.524T>C chr17 45600875 45600876 SGCA_00044 + SGCA:c.528C>T chr17 45600888 45600889 SGCA_00071 + SGCA:c.541C>T chr17 45600921 45600922 SGCA_00084 + SGCA:c.574C>T chr17 45600946 45600947 SGCA_00066 + SGCA:c.584+15C>T chr17 45601160 45601161 SGCA_00059 + SGCA:c.584+229G>A chr17 45601229 45601230 SGCA_00058 + SGCA:c.585-222C>T chr17 45601449 45601451 SGCA_00051 + SGCA:c.585-2_585-1delinsT chr17 45601452 45601453 SGCA_00026 + SGCA:c.586G>A chr17 45601479 45601480 SGCA_00085 + SGCA:c.613C>T chr17 45601480 45601481 SGCA_00027 + SGCA:c.614C>A chr17 45601488 45601489 SGCA_00073 + SGCA:c.622A>G chr17 45601528 45601529 SGCA_00054 + SGCA:c.662G>A chr17 45601537 45601538 SGCA_00067 + SGCA:c.671A>C chr17 45601546 45601547 SGCA_00086 + SGCA:c.680C>G chr17 45601549 45601550 SGCA_00028 + SGCA:c.683C>A chr17 45601561 45601562 SGCA_00078 + SGCA:c.695G>C chr17 45601570 45601571 SGCA_00087 + SGCA:c.704C>A chr17 45601578 45601579 SGCA_00088 + SGCA:c.712C>A chr17 45601590 45601591 SGCA_00050 + SGCA:c.724G>T chr17 45601591 45601592 SGCA_00015 + SGCA:c.725T>C chr17 45601605 45601606 SGCA_00009 + SGCA:c.739G>A chr17 45601774 45601776 SGCA_00055 + SGCA:c.747+161AC(15_21) chr17 45602674 45602675 SGCA_00068 + SGCA:c.920delT chr17 45602501 45602502 SGCA_00010 + SGCA:c.748-1G>A chr17 45602502 45602711 SGCA_00089 + SGCA:c.748-?_956+?del chr17 45602508 45602510 SGCA_00035 + SGCA:c.754_755del chr17 45602568 45602569 SGCA_00090 + SGCA:c.814G>T chr17 45602604 45602605 SGCA_00005 + SGCA:c.850C>T chr17 45602683 45602685 SGCA_00077 + SGCA:c.929_930del chr17 45602687 45602688 SGCA_00045 + SGCA:c.933C>T chr17 45602689 45602690 SGCA_00075 + SGCA:c.935T>G chr17 45602712 45602713 SGCA_00036 + SGCA:c.956+2T>C chr17 45602998 45602999 SGCA_00014 + SGCA:c.957-1G>T chr17 45603009 45603011 SGCA_00037 + SGCA:c.967_968del chr17 45607802 45607803 SGCA_00047 + SGCA:c.*6C>T chr17 45608127 45608128 SGCA_00046 + SGCA:c.*69C>T chr17 45608191 45608192 SGCA_00048 + SGCA:c.*133G>T chr17 45608224 45608225 SGCA_00057 + SGCA:c.*166A>G chr4 52745541 52745542 SGCB_00040 - SGCB:c.-189G>T chr4 52727799 52745413 SGCB_00050 - SGCB:c.-60-?_*3251+?del chr4 52755410 52755442 SGCB_00031 - SGCB:c.-10_22dup chr4 52745337 52745363 SGCB_00007 - SGCB:c.1-10_16del chr4 52745352 52745353 SGCB_00027 - SGCB:c.1A>T chr4 52745351 52745353 SGCB_00059 - SGCB:c.1_2del chr4 52745351 52745352 SGCB_00033 - SGCB:c.2T>C chr4 52745334 52745335 SGCB_00061 - SGCB:c.19delG chr4 52745330 52745333 SGCB_00071 - SGCB:c.21_23dup chr4 52745322 52745323 SGCB_00009 - SGCB:c.31C>G chr4 52745322 52745323 SGCB_00010 - SGCB:c.31C>T chr4 52745319 52745320 SGCB_00064 - SGCB:c.33+1G>C chr4 52743079 52743080 SGCB_00024 - SGCB:c.33+2241C>A chr4 52736901 52736902 SGCB_00043 - SGCB:c.299T>A chr4 52740780 52740781 SGCB_00054 - SGCB:c.34-47A>T chr4 52740524 52740734 SGCB_00065 - SGCB:c.34-?_243+?del chr4 52740681 52740686 SGCB_00018 - SGCB:c.82_86del chr4 52740684 52740685 SGCB_00036 - SGCB:c.83A>G chr4 52740682 52740683 SGCB_00022 - SGCB:c.85A>T chr4 52740677 52740678 SGCB_00035 - SGCB:c.90G>T chr4 52740601 52740602 SGCB_00060 - SGCB:c.166G>C chr4 52740522 52740523 SGCB_00068 - SGCB:c.243+2T>G chr4 52740518 52740522 SGCB_00051 - SGCB:c.243+3_243+6del chr4 52740519 52740520 SGCB_00062 - SGCB:c.243+5G>A chr4 52738542 52738544 SGCB_00047 - SGCB:c.244-1587CA(11_22) chr4 52737717 52737718 SGCB_00046 - SGCB:c.244-761T>C chr4 52737578 52737579 SGCB_00045 - SGCB:c.244-622T>C chr4 52736977 52736978 SGCB_00025 - SGCB:c.244-21T>C chr4 52736958 52736959 SGCB_00011 - SGCB:c.244-2A>G chr4 52736935 52736936 SGCB_00029 - SGCB:c.265G>A chr4 52736929 52736930 SGCB_00016 - SGCB:c.271C>T chr4 52736928 52736929 SGCB_00005 - SGCB:c.272G>C chr4 52736928 52736929 SGCB_00008 - SGCB:c.272G>T chr4 52736925 52736927 SGCB_00028 - SGCB:c.274_275delinsTC chr4 52736925 52736926 SGCB_00026 - SGCB:c.275T>C chr4 52736877 52736878 SGCB_00006 - SGCB:c.323T>G chr4 52736875 52736876 SGCB_00056 - SGCB:c.325C>T chr4 52736859 52736860 SGCB_00012 - SGCB:c.341C>T chr4 52736845 52736846 SGCB_00017 - SGCB:c.355A>T chr4 52736824 52736825 SGCB_00034 - SGCB:c.376A>G chr4 52736816 52736824 SGCB_00003 - SGCB:c.377_384dup chr4 52736802 52736803 SGCB_00030 - SGCB:c.398A>G chr4 52736784 52736785 SGCB_00013 - SGCB:c.416G>A chr4 52736342 52736343 SGCB_00042 - SGCB:c.430-328C>T chr4 52735992 52735993 SGCB_00001 - SGCB:c.452C>G chr4 52735978 52735980 SGCB_00004 - SGCB:c.465_466del chr4 52735945 52735946 SGCB_00019 - SGCB:c.499G>A chr4 52735906 52735907 SGCB_00049 - SGCB:c.538T>C chr4 52735893 52735904 SGCB_00070 - SGCB:c.541_551del chr4 52735900 52735901 SGCB_00014 - SGCB:c.544A>G chr4 52735893 52735894 SGCB_00020 - SGCB:c.551A>G chr4 52735892 52735893 SGCB_00002 - SGCB:c.552T>G chr4 52735846 52735850 SGCB_00032 - SGCB:c.595_598del chr4 52735835 52735837 SGCB_00069 - SGCB:c.608_609insG chr4 52735194 52735195 SGCB_00021 - SGCB:c.622-2A>G chr4 52735112 52735116 SGCB_00015 - SGCB:c.699_702del chr4 52735075 52735076 SGCB_00048 - SGCB:c.739dupA chr4 52734634 52734635 SGCB_00041 - SGCB:c.753+427T>G chr4 52733102 52733103 SGCB_00044 - SGCB:c.754-1849T>C chr4 52731208 52731209 SGCB_00053 - SGCB:c.799C>T chr4 52731151 52731152 SGCB_00067 - SGCB:c.856A>G chr4 52731096 52731097 SGCB_00055 - SGCB:c.911A>G chr4 52731076 52731077 SGCB_00052 - SGCB:c.931G>A chr4 52730529 52730530 SGCB_00023 - SGCB:c.*521A>T chr4 52729484 52729485 SGCB_00037 - SGCB:c.*1566T>C chr4 52729426 52729427 SGCB_00038 - SGCB:c.*1624C>T chr4 52728953 52728954 SGCB_00039 - SGCB:c.*2097T>G chr5 155686769 155686770 SGCD_00027 + SGCD:c.-94C>G chr5 155689076 155689077 SGCD_00029 + SGCD:c.-43-45C>A chr5 155689077 155689078 SGCD_00024 + SGCD:c.-43-44A>C chr5 155704156 155704157 SGCD_00022 + SGCD:c.84T>C chr5 155704161 155704162 SGCD_00003 + SGCD:c.89G>A chr5 155743531 155743532 SGCD_00012 + SGCD:c.192+39267T>C chr5 155780308 155780309 SGCD_00013 + SGCD:c.192+76044A>G chr5 155853884 155853885 SGCD_00014 + SGCD:c.193-14304A>T chr5 155854676 155854677 SGCD_00015 + SGCD:c.193-13512C>T chr5 155854749 155854750 SGCD_00016 + SGCD:c.193-13439G>T chr5 155868207 155868208 SGCD_00026 + SGCD:c.212G>C chr5 155868272 155868273 SGCD_00006 + SGCD:c.277G>T chr5 155868285 155868286 SGCD_00023 + SGCD:c.290G>A chr5 155948320 155948321 SGCD_00017 + SGCD:c.295-498A>G chr5 155948780 155948781 SGCD_00010 + SGCD:c.295-38T>A chr5 155948832 155948833 SGCD_00011 + SGCD:c.309C>T chr5 155948906 155948908 SGCD_00028 + SGCD:c.382+1_382+2del chr5 155950941 155950942 SGCD_00018 + SGCD:c.382+2036A>G chr5 155954348 155954349 SGCD_00019 + SGCD:c.383-171A>G chr5 155954498 155954499 SGCD_00025 + SGCD:c.383-21C>G chr5 155954527 155954528 SGCD_00031 + SGCD:c.391G>C chr5 155954587 155954588 SGCD_00007 + SGCD:c.451T>G chr5 155954629 155954630 SGCD_00002 + SGCD:c.493C>T chr5 156007073 156007109 SGCD_00030 + SGCD:c.525_560del chr5 156062065 156062066 SGCD_00020 + SGCD:c.575+54942C>T chr5 156068256 156068258 SGCD_00021 + SGCD:c.576-48913_576-48912insTTGT chr5 156117186 156117187 SGCD_00009 + SGCD:c.593G>C chr5 156117224 156117225 SGCD_00005 + SGCD:c.631A>T chr5 156117250 156117251 SGCD_00001 + SGCD:c.657delC chr5 156117305 156117308 SGCD_00008 + SGCD:c.699+13_699+15del chr5 156118889 156118890 SGCD_00004 + SGCD:c.784G>A chr7 93859177 93930172 SGCE_00026 - SGCE:c.-111-?_*275+?del chr7 93930007 93930008 SGCE_00052 - SGCE:c.54G>A chr7 93903767 93903768 SGCE_00016 - SGCE:c.146A>G chr7 93903749 93903750 SGCE_00020 - SGCE:c.164delG chr7 93903734 93903735 SGCE_00036 - SGCE:c.179A>C chr7 93903734 93903735 SGCE_00019 - SGCE:c.179A>G chr7 93903705 93903706 SGCE_00042 - SGCE:c.208G>T chr7 93903692 93903693 SGCE_00047 - SGCE:c.221delA chr7 93903681 93903682 SGCE_00034 - SGCE:c.232G>T chr7 93903689 93903690 SGCE_00032 - SGCE:c.232+1G>A chr7 93903688 93903689 SGCE_00039 - SGCE:c.232+2T>C chr7 93902331 93902332 SGCE_00006 - SGCE:c.233-1G>A chr7 93902331 93902332 SGCE_00040 - SGCE:c.233-1G>T chr7 93902279 93902280 SGCE_00045 - SGCE:c.275T>C chr7 93902276 93902277 SGCE_00007 - SGCE:c.278delG chr7 93902265 93902266 SGCE_00001 - SGCE:c.289C>T chr7 93902254 93902255 SGCE_00033 - SGCE:c.300G>A chr7 93902250 93902251 SGCE_00002 - SGCE:c.304C>T chr7 93902210 93902211 SGCE_00044 - SGCE:c.344A>G chr7 93902133 93902135 SGCE_00017 - SGCE:c.390+39GT(13_18) chr7 93897354 93897451 SGCE_00004 - SGCE:c.391-82_405del97 chr7 93897447 93897448 SGCE_00054 - SGCE:c.391-79G>T chr7 93897411 93897412 SGCE_00027 - SGCE:c.391-43A>C chr7 93897410 93897411 SGCE_00053 - SGCE:c.391-42A>C chr7 93897371 93897372 SGCE_00050 - SGCE:c.391-3T>C chr7 93897303 93897307 SGCE_00030 - SGCE:c.444_447del chr7 93897290 93897291 SGCE_00009 - SGCE:c.463+6T>C chr7 93878225 93893245 SGCE_00037 - SGCE:c.464-317_663-802del chr7 93892806 93892819 SGCE_00051 - SGCE:c.564_576del chr7 93892816 93892817 SGCE_00003 - SGCE:c.566delA chr7 93892810 93892811 SGCE_00031 - SGCE:c.572G>A chr7 93892795 93892796 SGCE_00013 - SGCE:c.587T>G chr7 93892762 93892764 SGCE_00057 - SGCE:c.619_620del chr7 93892756 93892757 SGCE_00023 - SGCE:c.626dupG chr7 93876711 93883533 SGCE_00038 - SGCE:c.663-6109_825+550del chr7 93877368 93877369 SGCE_00029 - SGCE:c.709C>T chr7 93877340 93877344 SGCE_00010 - SGCE:c.734_737del chr7 93877332 93877336 SGCE_00046 - SGCE:c.742_745dup chr7 93877269 93877270 SGCE_00056 - SGCE:c.808T>C chr7 93877265 93877266 SGCE_00043 - SGCE:c.812G>A chr7 93877260 93877261 SGCE_00005 - SGCE:c.825+1G>A chr7 93874806 93874811 SGCE_00012 - SGCE:c.835_839del chr7 93874789 93874790 SGCE_00008 - SGCE:c.856C>T chr7 93874761 93874762 SGCE_00024 - SGCE:c.884dupT chr7 93874679 93874680 SGCE_00018 - SGCE:c.966delT chr7 93874671 93874672 SGCE_00028 - SGCE:c.974delC chr7 93874615 93874616 SGCE_00055 - SGCE:c.1037+2T>C chr7 93874612 93874613 SGCE_00011 - SGCE:c.1037+5G>A chr7 93872876 93872877 SGCE_00041 - SGCE:c.1114C>T chr7 93871935 93871936 SGCE_00014 - SGCE:c.1253+811A>C chr7 93871934 93871935 SGCE_00048 - SGCE:c.1253+812G>A chr7 93871932 93871933 SGCE_00049 - SGCE:c.1253+814G>A chr13 22653059 22797304 SGCG_00045 + SGCG:c.(?_-155)_(*624_?)del chr13 22653086 22653087 SGCG_00051 + SGCG:c.-128delG chr13 22653126 22653127 SGCG_00050 + SGCG:c.-88G>A chr13 22653214 22653215 SGCG_00077 + SGCG:c.-1+1G>A chr13 22653218 22653219 SGCG_00078 + SGCG:c.-1+5G>A chr13 22654593 22654594 SGCG_00015 + SGCG:c.-1+1380G>A chr13 22666927 22666928 SGCG_00016 + SGCG:c.1-8906G>A chr13 22669195 22669196 SGCG_00017 + SGCG:c.1-6638T>C chr13 22675833 22751617 SGCG_00076 + SGCG:c.1-?_505+?del chr13 22675919 22675920 SGCG_00006 + SGCG:c.87dupT chr13 22675924 22675925 SGCG_00059 + SGCG:c.92G>A chr13 22675925 22675926 SGCG_00043 + SGCG:c.93G>A chr13 22675944 22675945 SGCG_00030 + SGCG:c.112T>C chr13 22675956 22675959 SGCG_00055 + SGCG:c.124_126del chr13 22675956 22675959 SGCG_00074 + SGCG:c.124_126delCTT chr13 22675960 22675961 SGCG_00053 + SGCG:c.128T>G chr13 22675990 22675991 SGCG_00079 + SGCG:c.158T>C chr13 22676030 22676031 SGCG_00081 + SGCG:c.195+3A>T chr13 22676031 22676035 SGCG_00009 + SGCG:c.195+4_195+7del chr13 22680576 22680577 SGCG_00018 + SGCG:c.195+4549T>C chr13 22684744 22684745 SGCG_00019 + SGCG:c.195+8717C>T chr13 22688641 22688642 SGCG_00020 + SGCG:c.195+12614G>T chr13 22688825 22688826 SGCG_00021 + SGCG:c.195+12798C>T chr13 22706749 22706851 SGCG_00067 + SGCG:c.196-?_297+?dup chr13 22706758 22706759 SGCG_00044 + SGCG:c.205G>C chr13 22706759 22706760 SGCG_00010 + SGCG:c.206G>C chr13 22706781 22706782 SGCG_00031 + SGCG:c.228T>C chr13 22706786 22706787 SGCG_00082 + SGCG:c.233T>C chr13 22706793 22706794 SGCG_00083 + SGCG:c.240G>C chr13 22706797 22706798 SGCG_00084 + SGCG:c.244G>A chr13 22706822 22706823 SGCG_00049 + SGCG:c.269T>C chr13 22706856 22706857 SGCG_00011 + SGCG:c.297+6A>T chr13 22722777 22722778 SGCG_00065 + SGCG:c.307C>G chr13 22722782 22722783 SGCG_00032 + SGCG:c.312T>G chr13 22722787 22722788 SGCG_00085 + SGCG:c.317A>C chr13 22722790 22722791 SGCG_00062 + SGCG:c.320C>T chr13 22722817 22722818 SGCG_00033 + SGCG:c.347G>A chr13 22722831 22722832 SGCG_00069 + SGCG:c.361delG chr13 22751467 22751468 SGCG_00060 + SGCG:c.386-30A>G chr13 22751497 22751617 SGCG_00087 + SGCG:c.386-?_505+?del chr13 22751618 22751619 SGCG_00042 + SGCG:c.505+2T>C chr13 22643565 22643638 SGCG_00056 + SGCG:c.(?_506)-?_(578_?)+?del chr13 22767552 22767626 SGCG_00047 + SGCG:c.506-?_(578_702)+?del chr13 22767572 22767573 SGCG_00001 + SGCG:c.525delT chr13 22767596 22767597 SGCG_00071 + SGCG:c.549dupT chr13 22767598 22767599 SGCG_00066 + SGCG:c.551T>G chr13 22767614 22767615 SGCG_00028 + SGCG:c.567delT chr13 22768302 22768303 SGCG_00022 + SGCG:c.578+677A>G chr13 22772149 22772150 SGCG_00023 + SGCG:c.578+4524A>G chr13 22776289 22776290 SGCG_00024 + SGCG:c.578+8664G>T chr13 22784235 22784236 SGCG_00025 + SGCG:c.579-8540C>T chr13 22788045 22794620 SGCG_00026 + SGCG:c.579-4730_702+1721delinsACACTA chr13 22792758 22792759 SGCG_00035 + SGCG:c.579-17dupT chr13 22792773 22792774 SGCG_00086 + SGCG:c.579-2A>G chr13 22792777 22792778 SGCG_00008 + SGCG:c.581T>C chr13 22792778 22792779 SGCG_00012 + SGCG:c.582dupA chr13 22792825 22792826 SGCG_00054 + SGCG:c.629A>G chr13 22792886 22792887 SGCG_00070 + SGCG:c.690T>A chr13 22796488 22796489 SGCG_00063 + SGCG:c.703-18T>C chr13 22796508 22796509 SGCG_00036 + SGCG:c.705T>C chr13 22796538 22796539 SGCG_00075 + SGCG:c.735dupC chr13 22796571 22796572 SGCG_00064 + SGCG:c.768delC chr13 22796603 22796605 SGCG_00003 + SGCG:c.800_801del chr13 22796604 22796606 SGCG_00004 + SGCG:c.801_802del chr13 22796651 22796652 SGCG_00002 + SGCG:c.848G>A chr13 22796663 22796664 SGCG_00037 + SGCG:c.860A>G chr13 22796686 22796687 SGCG_00052 + SGCG:c.*7T>C chr13 22796692 22796693 SGCG_00038 + SGCG:c.*13C>T chr13 22796716 22796717 SGCG_00039 + SGCG:c.*37dupG chr13 22796728 22796729 SGCG_00029 + SGCG:c.*49C>G chr13 22796733 22796734 SGCG_00057 + SGCG:c.*54C>T chr13 22796743 22796744 SGCG_00040 + SGCG:c.*64G>A chr13 22796769 22796770 SGCG_00027 + SGCG:c.*90G>A chr13 22796781 22796782 SGCG_00061 + SGCG:c.*102A>C chr13 22796815 22796816 SGCG_00005 + SGCG:c.*136T>C chr13 22796933 22796934 SGCG_00013 + SGCG:c.*254G>A chr13 22796974 22796975 SGCG_00014 + SGCG:c.*295T>C chr13 22797184 22797185 SGCG_00058 + SGCG:c.*505A>G chr8 15139702 15139703 SGCZ_00002 - SGCZ:c.-200T>C chr8 15139666 15139667 SGCZ_00001 - SGCZ:c.-164T>C chr8 14225955 14225956 SGCZ_00003 - SGCZ:c.336+27C>G chr8 14139569 14139570 SGCZ_00004 - SGCZ:c.337-11A>G chr8 14139439 14139440 SGCZ_00011 - SGCZ:c.424+32T>C chr8 14010091 14010092 SGCZ_00012 - SGCZ:c.571C>T chr8 14010089 14010090 SGCZ_00006 - SGCZ:c.573C>T chr8 14010088 14010089 SGCZ_00005 - SGCZ:c.574T>C chr8 13992468 13992469 SGCZ_00013 - SGCZ:c.793T>C chr8 13992396 13992397 SGCZ_00007 - SGCZ:c.865G>A chr8 13992349 13992350 SGCZ_00009 - SGCZ:c.912dupC chr8 13992310 13992311 SGCZ_00010 - SGCZ:c.*12T>A chr5 69381105 69409173 SMN1_00036 + SMN1:c.(?_-163)_(*573_?)del chr5 69381254 69381255 SMN1_00038 + SMN1:c.-14C>T chr5 70256690 70256691 SMN1_00001 + SMN1:c.5C>G chr5 70256707 70256708 SMN1_00002 + SMN1:c.22dupA chr5 70256728 70256729 SMN1_00003 + SMN1:c.43C>T chr5 69381349 69381350 SMN1_00004 + SMN1:c.81+1dupG chr5 70270427 70270428 SMN1_00039 + SMN1:c.88G>A chr5 70270430 70270431 SMN1_00005 + SMN1:c.91dupT chr5 70270470 70270471 SMN1_00040 + SMN1:c.131A>T chr5 70273025 70273027 SMN1_00006 + SMN1:c.208_209insGTGT chr5 70273949 70273950 SMN1_00041 + SMN1:c.283G>C chr5 70273971 70273972 SMN1_00007 + SMN1:c.305G>A chr5 70273998 70273999 SMN1_00042 + SMN1:c.332C>G chr5 70274012 70274013 SMN1_00044 + SMN1:c.346A>T chr5 70274065 70274069 SMN1_00008 + SMN1:c.399_402del chr5 70274066 70274067 SMN1_00009 + SMN1:c.400G>A chr5 70274072 70274073 SMN1_00045 + SMN1:c.406C>G chr5 70274105 70274110 SMN1_00010 + SMN1:c.439_443del chr5 70274128 70274129 SMN1_00033 + SMN1:c.462G>A chr5 70274335 70274337 SMN1_00011 + SMN1:c.510_511delT chr5 70274349 70274350 SMN1_00046 + SMN1:c.524delC chr5 70274383 70274384 SMN1_00012 + SMN1:c.558delA chr5 70274410 70274411 SMN1_00013 + SMN1:c.585dupT chr5 70276240 70277759 SMN1_00014 + SMN1:c.628-?_834+?del chr5 70276295 70276296 SMN1_00015 + SMN1:c.683T>A chr5 70277658 70277659 SMN1_00016 + SMN1:c.734C>T chr5 70277658 70277659 SMN1_00037 + SMN1:c.734dupC chr5 70277664 70277665 SMN1_00017 + SMN1:c.740dupC chr5 70277694 70277705 SMN1_00018 + SMN1:c.770_780dup chr5 70277708 70277709 SMN1_00043 + SMN1:c.784A>G chr5 70277709 70277710 SMN1_00019 + SMN1:c.785G>T chr5 70277739 70277740 SMN1_00021 + SMN1:c.815A>G chr5 70277745 70277746 SMN1_00022 + SMN1:c.821C>T chr5 70277747 70277748 SMN1_00023 + SMN1:c.823G>A chr5 69402335 69402336 SMN1_00024 + SMN1:c.834+2T>G chr5 69408079 69408080 SMN1_00035 + SMN1:c.835-24dupT chr5 69408085 69408092 SMN1_00025 + SMN1:c.835-18_835-12del chr5 70283523 70283524 SMN1_00026 + SMN1:c.835G>T chr5 70283524 70283525 SMN1_00027 + SMN1:c.836G>T chr5 69408160 69408164 SMN1_00028 + SMN1:c.*3+4_*3+7del chr5 69408162 69408163 SMN1_00029 + SMN1:c.*3+6T>G chr5 69408601 69409175 SMN1_00030 + SMN1:c.*4-?_*575+?del chr5 69408937 69408939 SMN1_00032 + SMN1:c.*338_339delinsGC chr9 116539962 116539963 TRIM32_00007 + TRIM32:c.388C>T chr9 116540344 116540345 TRIM32_00002 + TRIM32:c.770C>G chr9 116540828 116540829 TRIM32_00003 + TRIM32:c.1254G>A chr9 116541033 116541034 TRIM32_00001 + TRIM32:c.1459G>A chr9 116541327 116541341 TRIM32_00008 + TRIM32:c.1753_1766dup chr9 116541379 116541380 TRIM32_00004 + TRIM32:c.1805T>C chr9 116541665 116541666 TRIM32_00005 + TRIM32:c.2091T>C chr9 116541711 116541712 TRIM32_00006 + TRIM32:c.2137C>G chr2 179492505 179492506 TTN_00008 - TTN:c.160G>A chr2 179485417 179485418 TTN_00029 - TTN:c.982C>T chr2 179476231 179476232 TTN_00001 - TTN:c.2219G>T chr2 179476222 179476223 TTN_00007 - TTN:c.2228C>T chr2 179473212 179473213 TTN_00003 - TTN:c.2926T>C chr2 179472160 179472162 TTN_00013 - TTN:c.3380+283AC(12_13) chr2 179459896 179459898 TTN_00014 - TTN:c.8902+14TA(8_9) chr2 179437216 179437217 TTN_00012 - TTN:c.11312-5063G>T chr2 179431118 179431119 TTN_00011 - TTN:c.12347C>A chr2 179430357 179430358 TTN_00009 - TTN:c.13108C>T chr2 179430263 179430264 TTN_00030 - TTN:c.13202G>A chr2 179429871 179429872 TTN_00031 - TTN:c.13594A>C chr2 179428346 179428347 TTN_00010 - TTN:c.14339G>A chr2 179421093 179421094 TTN_00016 - TTN:c.17740+64A(10_11) chr2 179403636 179403641 TTN_00017 - TTN:c.26762-36GTTTT(5_9) chr2 179391607 179391608 TTN_00018 - TTN:c.30598+153A(11_12) chr2 179376370 179376371 TTN_00019 - TTN:c.32354-540A(22_25) chr2 179367592 179367594 TTN_00020 - TTN:c.34333+260AT(13_16) chr2 179348591 179348592 TTN_00028 - TTN:c.37583-4T>C chr2 179337292 179337294 TTN_00021 - TTN:c.40087+3TA(11_15) chr2 179336377 179336379 TTN_00022 - TTN:c.40163-116TA(21_23) chr2 179327421 179327423 TTN_00023 - TTN:c.40792+179AT(22_26) chr2 179276926 179276927 TTN_00027 - TTN:c.64073C>T chr2 179265674 179265676 TTN_00002 - TTN:c.70555_70556dup chr2 179236517 179236518 TTN_00026 - TTN:c.94912A>G chr2 179227246 179227247 TTN_00025 - TTN:c.99961G>A chr2 179217431 179217442 TTN_00004 - TTN:c.107645_107655insTGAAAGAAAAA chr2 179217381 179217382 TTN_00006 - TTN:c.107705T>A chr2 179217354 179217355 TTN_00005 - TTN:c.107732T>C chr2 179244999 179245000 TTN_00024 - TTN:c.*99dupA chr1 40393089 40393090 ZMPSTE24_00007 + ZMPSTE24:c.54dupT chr1 40401104 40406532 ZMPSTE24_00003 + ZMPSTE24:c.271-1446_628-127del chr1 40402575 40402576 ZMPSTE24_00005 + ZMPSTE24:c.296delC chr1 40404855 40404856 ZMPSTE24_00006 + ZMPSTE24:c.591dupT chr1 40420752 40420753 ZMPSTE24_00002 + ZMPSTE24:c.1018T>C chr1 40425643 40425644 ZMPSTE24_00001 + ZMPSTE24:c.1085dupT chr1 40427204 40427216 ZMPSTE24_00008 + ZMPSTE24:c.1204-5_1210del chr1 40427254 40427255 ZMPSTE24_00004 + ZMPSTE24:c.1249C>T chr17 35074960 35074961 TCAP_00013 + TCAP:c.-178G>T chr17 35075174 35075177 TCAP_00010 + TCAP:c.37_39del chr17 35075247 35075249 TCAP_00001 + TCAP:c.110_110+1del chr17 35075539 35075540 TCAP_00005 + TCAP:c.156C>T chr17 35075540 35075541 TCAP_00002 + TCAP:c.157C>T chr17 35075554 35075555 TCAP_00018 + TCAP:c.171C>G chr17 35075570 35075571 TCAP_00020 + TCAP:c.187C>T chr17 35075591 35075592 TCAP_00011 + TCAP:c.208C>G chr17 35075604 35075605 TCAP_00019 + TCAP:c.221T>A chr17 35075608 35075609 TCAP_00006 + TCAP:c.225C>A chr17 35075643 35075644 TCAP_00003 + TCAP:c.260G>A chr17 35075652 35075653 TCAP_00012 + TCAP:c.269C>T chr17 35075699 35075700 TCAP_00016 + TCAP:c.316C>T chr17 35075777 35075778 TCAP_00009 + TCAP:c.394G>C chr17 35075793 35075794 TCAP_00007 + TCAP:c.410C>T chr17 35075841 35075842 TCAP_00008 + TCAP:c.458G>A chr17 35076020 35076024 TCAP_00017 + TCAP:c.637_640del2G chr17 35078309 35078310 TCAP_00014 + TCAP:c.*1977G>A chr17 35078515 35078516 TCAP_00015 + TCAP:c.*2183G>A chrX 32539855 32598168 DMD_00451 - DMD:c.[..357+2901_649+47411delinsCTGAA..] chrX 32525626 32543021 DMD_00451 - DMD:c.[..649+44246_650-48560dup..] chrX 32232614 32232618 DMD_01234 - DMD:c.[..3433-12_3433-9dup..] chrX 32232604 32232614 DMD_01234 - DMD:c.[..3433-8_3434del..] chrX 32142893 32142894 DMD_01669 - DMD:c.[4925dupT, -] chrX 31457825 31660740 DMD_01063 - DMD:c.[..6913-7593_7661-466delinsAAATTCCACGTAAATTTT..] chrX 31455501 31457825 DMD_01063 - DMD:c.[..7661-465_7872+1647inv..] chrX 31455251 31455501 DMD_01063 - DMD:c.[..7872+1648_7872+1897del..] chr7 93871935 93871936 SGCE_00015 - SGCE:c.[1253+811A>C;1253+812G>A] chr3 37010000 37010001 MMR_MLH1_00005 + NM_000249.2(MLH1):c.-42C>T chr3 37010014 37010015 MMR_MLH1_00003 + NM_000249.2(MLH1):c.-28A>G chr3 37010014 37010015 MMR_MLH1_00004 + NM_000249.2(MLH1):c.-28A>T chr3 37010035 37010036 MMR_MLH1_00007 + NM_000249.2(MLH1):c.-7C>T chr3 37010042 37010158 MMR_MLH1_00011 + NM_000249.2(MLH1):c.1-?_116+?del chr3 37010042 37010158 MMR_MLH1_00012 + NM_000249.2(MLH1):c.1-?_116+?dup chr3 37010042 37013204 MMR_MLH1_00015 + NM_000249.2(MLH1):c.1-?_207+?del chr3 37010042 37017548 MMR_MLH1_00016 + NM_000249.2(MLH1):c.1-?_306+?del chr3 37010042 37025400 MMR_MLH1_00010 + NM_000249.2(MLH1):c.1-?_545+?del chr3 37010042 37034094 MMR_MLH1_00017 + NM_000249.2(MLH1):c.1-?_884+?del chr3 37010042 37045427 MMR_MLH1_00013 + NM_000249.2(MLH1):c.1-?_1558+?del chr3 37010042 37056681 MMR_MLH1_00625 + NM_000249.2(MLH1):c.1-?_1559+?del chr3 37010042 37058826 MMR_MLH1_00014 + NM_000249.2(MLH1):c.1-?_1731+?del chr3 37010042 37067148 MMR_MLH1_00009 + NM_000249.2(MLH1):c.1-?_2271+?del chr3 37010043 37010044 MMR_MLH1_00031 + NM_000249.2(MLH1):c.2T>A chr3 37010043 37010044 MMR_MLH1_00032 + NM_000249.2(MLH1):c.2T>G chr3 37010044 37010045 MMR_MLH1_00044 + NM_000249.2(MLH1):c.3G>A chr3 37010050 37010051 MMR_MLH1_00058 + NM_000249.2(MLH1):c.9delC chr3 37010056 37010070 MMR_MLH1_00027 + NM_000249.2(MLH1):c.15_28del14 chr3 37010059 37010076 MMR_MLH1_00029 + NM_000249.2(MLH1):c.18_34del17 chr3 37010060 37010077 MMR_MLH1_00030 + NM_000249.2(MLH1):c.19_35delGTTATTCGGCGGCTGGA chr3 37010072 37010073 MMR_MLH1_00033 + NM_000249.2(MLH1):c.31delC chr3 37010078 37010079 MMR_MLH1_00034 + NM_000249.2(MLH1):c.37delG chr3 37010079 37010081 MMR_MLH1_00035 + NM_000249.2(MLH1):c.38_39insCCCA chr3 37010085 37010086 MMR_MLH1_00036 + NM_000249.2(MLH1):c.44dupT chr3 37010093 37010094 MMR_MLH1_00037 + NM_000249.2(MLH1):c.52delC chr3 37010096 37010097 MMR_MLH1_00038 + NM_000249.2(MLH1):c.55A>T chr3 37010102 37010103 MMR_MLH1_00039 + NM_000249.2(MLH1):c.61delG chr3 37010103 37010104 MMR_MLH1_00040 + NM_000249.2(MLH1):c.62C>T chr3 37010106 37010107 MMR_MLH1_00041 + NM_000249.2(MLH1):c.65G>C chr3 37010108 37010109 MMR_MLH1_00042 + NM_000249.2(MLH1):c.67delG chr3 37010108 37010109 MMR_MLH1_00043 + NM_000249.2(MLH1):c.67G>A chr3 37010108 37010109 MMR_MLH1_00045 + NM_000249.2(MLH1):c.67G>T chr3 37010110 37010111 MMR_MLH1_00046 + NM_000249.2(MLH1):c.69A>T chr3 37010111 37010112 MMR_MLH1_00047 + NM_000249.2(MLH1):c.70delG chr3 37010114 37010115 MMR_MLH1_00048 + NM_000249.2(MLH1):c.73A>T chr3 37010114 37010115 MMR_MLH1_00049 + NM_000249.2(MLH1):c.73delA chr3 37010115 37010116 MMR_MLH1_00050 + NM_000249.2(MLH1):c.74T>C chr3 37010117 37010118 MMR_MLH1_00051 + NM_000249.2(MLH1):c.76C>T chr3 37010117 37010118 MMR_MLH1_00052 + NM_000249.2(MLH1):c.76delC chr3 37010124 37010125 MMR_MLH1_00053 + NM_000249.2(MLH1):c.83C>T chr3 37010126 37010127 MMR_MLH1_00054 + NM_000249.2(MLH1):c.85G>T chr3 37010127 37010128 MMR_MLH1_00055 + NM_000249.2(MLH1):c.86C>G chr3 37010132 37010134 MMR_MLH1_00056 + NM_000249.2(MLH1):c.91_92delinsTG chr3 37010135 37010136 MMR_MLH1_00057 + NM_000249.2(MLH1):c.94A>G chr3 37010142 37010143 MMR_MLH1_00018 + NM_000249.2(MLH1):c.101A>C chr3 37010143 37010145 MMR_MLH1_00019 + NM_000249.2(MLH1):c.102_103delGA chr3 37010145 37010146 MMR_MLH1_00021 + NM_000249.2(MLH1):c.104T>G chr3 37010145 37010147 MMR_MLH1_00020 + NM_000249.2(MLH1):c.104_105delinsAC chr3 37010147 37010149 MMR_MLH1_00022 + NM_000249.2(MLH1):c.106_107insAA chr3 37010150 37010151 MMR_MLH1_00024 + NM_000249.2(MLH1):c.109G>T chr3 37010153 37010154 MMR_MLH1_00025 + NM_000249.2(MLH1):c.112A>C chr3 37010153 37010154 MMR_MLH1_00818 + NM_000249.2(MLH1):c.112A>G chr3 37010157 37010158 MMR_MLH1_00026 + NM_000249.2(MLH1):c.116G>A chr3 37064014 37064015 MMR_MLH1_00028 + NM_000249.2(MLH1):c.1733A>G chr3 37010158 37010159 MMR_MLH1_00059 + NM_000249.2(MLH1):c.116+1G>A chr3 37010162 37010163 MMR_MLH1_00060 + NM_000249.2(MLH1):c.116+5G>C chr3 37013102 37013103 MMR_MLH1_00061 + NM_000249.2(MLH1):c.117-11T>A chr3 37013111 37013112 MMR_MLH1_00063 + NM_000249.2(MLH1):c.117-2A>T chr3 37013113 37013204 MMR_MLH1_00064 + NM_000249.2(MLH1):c.117-?_207+?del chr3 37013113 37017548 MMR_MLH1_00065 + NM_000249.2(MLH1):c.117-?_306+?del chr3 37013113 37017548 MMR_MLH1_00819 + NM_000249.2(MLH1):c.117-?_306+?dup chr3 37013113 37025400 MMR_MLH1_00066 + NM_000249.2(MLH1):c.117-?_545+?del chr3 37013118 37013119 MMR_MLH1_00067 + NM_000249.2(MLH1):c.122A>G chr3 37013125 37013126 MMR_MLH1_00068 + NM_000249.2(MLH1):c.129delA chr3 37013126 37013127 MMR_MLH1_00069 + NM_000249.2(MLH1):c.130T>G chr3 37013127 37013128 MMR_MLH1_00071 + NM_000249.2(MLH1):c.131C>T chr3 37013127 37013129 MMR_MLH1_00070 + NM_000249.2(MLH1):c.131_132insAATC chr3 37013133 37013134 MMR_MLH1_00072 + NM_000249.2(MLH1):c.137G>T chr3 37013141 37013145 MMR_MLH1_00073 + NM_000249.2(MLH1):c.145_148delGTGA chr3 37013142 37013143 MMR_MLH1_00074 + NM_000249.2(MLH1):c.146T>A chr3 37013146 37013147 MMR_MLH1_00075 + NM_000249.2(MLH1):c.150dupT chr3 37013150 37013151 MMR_MLH1_00076 + NM_000249.2(MLH1):c.154A>T chr3 37013152 37013153 MMR_MLH1_00077 + NM_000249.2(MLH1):c.156dupA chr3 37013153 37013154 MMR_MLH1_00078 + NM_000249.2(MLH1):c.157G>T chr3 37013154 37013155 MMR_MLH1_00079 + NM_000249.2(MLH1):c.158A>C chr3 37013157 37013158 MMR_MLH1_00080 + NM_000249.2(MLH1):c.161delG chr3 37013157 37013158 MMR_MLH1_00081 + NM_000249.2(MLH1):c.161G>A chr3 37013165 37013166 MMR_MLH1_00098 + NM_000249.2(MLH1):c.169A>T chr3 37013176 37013177 MMR_MLH1_00099 + NM_000249.2(MLH1):c.180G>A chr3 37013180 37013181 MMR_MLH1_00100 + NM_000249.2(MLH1):c.184C>A chr3 37013180 37013181 MMR_MLH1_00101 + NM_000249.2(MLH1):c.184C>T chr3 37013183 37013184 MMR_MLH1_00102 + NM_000249.2(MLH1):c.187G>A chr3 37013186 37013188 MMR_MLH1_00103 + NM_000249.2(MLH1):c.190_191delAA chr3 37013187 37013188 MMR_MLH1_00104 + NM_000249.2(MLH1):c.191A>G chr3 37013187 37013188 MMR_MLH1_00105 + NM_000249.2(MLH1):c.191dupA chr3 37013190 37013191 MMR_MLH1_00106 + NM_000249.2(MLH1):c.194G>A chr3 37013194 37013195 MMR_MLH1_00107 + NM_000249.2(MLH1):c.198C>T chr3 37013195 37013196 MMR_MLH1_00108 + NM_000249.2(MLH1):c.199G>A chr3 37013195 37013196 MMR_MLH1_00109 + NM_000249.2(MLH1):c.199G>T chr3 37013196 37013197 MMR_MLH1_00110 + NM_000249.2(MLH1):c.200G>A chr3 37013198 37013199 MMR_MLH1_00111 + NM_000249.2(MLH1):c.202A>G chr3 37013199 37013200 MMR_MLH1_00112 + NM_000249.2(MLH1):c.203T>A chr3 37013201 37013202 MMR_MLH1_00113 + NM_000249.2(MLH1):c.205A>G chr3 37013201 37013202 MMR_MLH1_00114 + NM_000249.2(MLH1):c.205delA chr3 37013202 37013203 MMR_MLH1_00115 + NM_000249.2(MLH1):c.206G>A chr3 37013204 37013205 MMR_MLH1_00117 + NM_000249.2(MLH1):c.207+1G>A chr3 37013204 37013205 MMR_MLH1_00118 + NM_000249.2(MLH1):c.207+1G>T chr3 37013204 37013206 MMR_MLH1_00116 + NM_000249.2(MLH1):c.207+1_207+2delGT chr3 37013205 37013206 MMR_MLH1_00119 + NM_000249.2(MLH1):c.207+2T>C chr3 37013774 37013775 MMR_MLH1_00120 + NM_000249.2(MLH1):c.207+571C>T chr3 37017446 37017447 MMR_MLH1_00123 + NM_000249.2(MLH1):c.208-3C>G chr3 37017447 37017448 MMR_MLH1_00122 + NM_000249.2(MLH1):c.208-2A>G chr3 37017447 37017451 MMR_MLH1_00121 + NM_000249.2(MLH1):c.208-2_209delAGAA chr3 37017449 37017548 MMR_MLH1_00134 + NM_000249.2(MLH1):c.208-?_306+?del chr3 37017449 37017548 MMR_MLH1_00820 + NM_000249.2(MLH1):c.208-?_306+?dup chr3 37017449 37023558 MMR_MLH1_00135 + NM_000249.2(MLH1):c.208-?_453-?del chr3 37017449 37025400 MMR_MLH1_00136 + NM_000249.2(MLH1):c.208-?_545+?del chr3 37017449 37028594 MMR_MLH1_00137 + NM_000249.2(MLH1):c.208-?_677+?del chr3 37017451 37017452 MMR_MLH1_00140 + NM_000249.2(MLH1):c.210A>C chr3 37017451 37017455 MMR_MLH1_00139 + NM_000249.2(MLH1):c.210_213delAGAA chr3 37017452 37017453 MMR_MLH1_00142 + NM_000249.2(MLH1):c.211G>C chr3 37017452 37017453 MMR_MLH1_00143 + NM_000249.2(MLH1):c.211G>T chr3 37017452 37017455 MMR_MLH1_00141 + NM_000249.2(MLH1):c.211_213delGAA chr3 37017454 37017457 MMR_MLH1_00144 + NM_000249.2(MLH1):c.213_215delAGA chr3 37017457 37017458 MMR_MLH1_00145 + NM_000249.2(MLH1):c.216T>C chr3 37017470 37017471 MMR_MLH1_00147 + NM_000249.2(MLH1):c.229T>C chr3 37017471 37017472 MMR_MLH1_00148 + NM_000249.2(MLH1):c.230G>A chr3 37017472 37017473 MMR_MLH1_00149 + NM_000249.2(MLH1):c.231T>A chr3 37017472 37017474 MMR_MLH1_00154 + NM_000249.2(MLH1):c.231_232delTG chr3 37017479 37017480 MMR_MLH1_00150 + NM_000249.2(MLH1):c.238T>G chr3 37017483 37017484 MMR_MLH1_00151 + NM_000249.2(MLH1):c.242C>T chr3 37017486 37017487 MMR_MLH1_00152 + NM_000249.2(MLH1):c.245C>T chr3 37017491 37017492 MMR_MLH1_00153 + NM_000249.2(MLH1):c.250A>G chr3 37017494 37017495 MMR_MLH1_00155 + NM_000249.2(MLH1):c.253C>T chr3 37017497 37017498 MMR_MLH1_00156 + NM_000249.2(MLH1):c.256C>T chr3 37017502 37017503 MMR_MLH1_00157 + NM_000249.2(MLH1):c.261C>T chr3 37017506 37017507 MMR_MLH1_00158 + NM_000249.2(MLH1):c.265G>T chr3 37017513 37017514 MMR_MLH1_00159 + NM_000249.2(MLH1):c.272T>A chr3 37017515 37017516 MMR_MLH1_00160 + NM_000249.2(MLH1):c.274G>C chr3 37017518 37017519 MMR_MLH1_00161 + NM_000249.2(MLH1):c.277A>G chr3 37017524 37017525 MMR_MLH1_00162 + NM_000249.2(MLH1):c.283T>G chr3 37017532 37017533 MMR_MLH1_00163 + NM_000249.2(MLH1):c.291T>A chr3 37017534 37017546 MMR_MLH1_00164 + NM_000249.2(MLH1):c.293_304delGCTTTCGAGGTG chr3 37017539 37017540 MMR_MLH1_00165 + NM_000249.2(MLH1):c.298C>T chr3 37017540 37017541 MMR_MLH1_00166 + NM_000249.2(MLH1):c.299G>C chr3 37017544 37017545 MMR_MLH1_00167 + NM_000249.2(MLH1):c.303T>G chr3 37017545 37017546 MMR_MLH1_00168 + NM_000249.2(MLH1):c.304G>A chr3 37017547 37017548 MMR_MLH1_00169 + NM_000249.2(MLH1):c.306G>T chr3 37017548 37017549 MMR_MLH1_00170 + NM_000249.2(MLH1):c.306+1G>A chr3 37017549 37017550 MMR_MLH1_00171 + NM_000249.2(MLH1):c.306+2dupT chr3 37017550 37017551 MMR_MLH1_00172 + NM_000249.2(MLH1):c.306+3A>C chr3 37017552 37017553 MMR_MLH1_00175 + NM_000249.2(MLH1):c.306+5G>A chr3 37017587 37017588 MMR_MLH1_00173 + NM_000249.2(MLH1):c.306+40G>A chr3 37017963 37017964 MMR_MLH1_00174 + NM_000249.2(MLH1):c.306+416A>C chr3 37019492 37019493 MMR_MLH1_00176 + NM_000249.2(MLH1):c.307-1403A>T chr3 37020893 37020894 MMR_MLH1_00178 + NM_000249.2(MLH1):c.307-2A>C chr3 37020894 37020895 MMR_MLH1_00177 + NM_000249.2(MLH1):c.307-1G>C chr3 37020895 37020969 MMR_MLH1_00190 + NM_000249.2(MLH1):c.307-?_380+?del chr3 37020895 37020969 MMR_MLH1_00191 + NM_000249.2(MLH1):c.307-?_380+?dup chr3 37020895 37023558 MMR_MLH1_00192 + NM_000249.2(MLH1):c.307-?_453+?del chr3 37020895 37025400 MMR_MLH1_00193 + NM_000249.2(MLH1):c.307-?_545+?del chr3 37020895 37036958 MMR_MLH1_00188 + NM_000249.2(MLH1):c.307-?_1038+?del chr3 37020895 37067148 MMR_MLH1_00189 + NM_000249.2(MLH1):c.307-?_2271+?del chr3 37020899 37020900 MMR_MLH1_00194 + NM_000249.2(MLH1):c.311T>A chr3 37020906 37020907 MMR_MLH1_00195 + NM_000249.2(MLH1):c.318C>G chr3 37020908 37020909 MMR_MLH1_00196 + NM_000249.2(MLH1):c.320T>G chr3 37020915 37020916 MMR_MLH1_00197 + NM_000249.2(MLH1):c.327T>G chr3 37020920 37020921 MMR_MLH1_00198 + NM_000249.2(MLH1):c.332C>T chr3 37020926 37020927 MMR_MLH1_00199 + NM_000249.2(MLH1):c.338T>A chr3 37020929 37020930 MMR_MLH1_00200 + NM_000249.2(MLH1):c.341delC chr3 37020934 37020935 MMR_MLH1_00201 + NM_000249.2(MLH1):c.346delA chr3 37020935 37020936 MMR_MLH1_00202 + NM_000249.2(MLH1):c.347C>G chr3 37020938 37020939 MMR_MLH1_00203 + NM_000249.2(MLH1):c.350C>G chr3 37020938 37020939 MMR_MLH1_00204 + NM_000249.2(MLH1):c.350C>T chr3 37020942 37020944 MMR_MLH1_00205 + NM_000249.2(MLH1):c.354_355dupAA chr3 37020944 37020946 MMR_MLH1_00206 + NM_000249.2(MLH1):c.356_357insAA chr3 37020955 37020956 MMR_MLH1_00207 + NM_000249.2(MLH1):c.367A>T chr3 37020963 37020964 MMR_MLH1_00208 + NM_000249.2(MLH1):c.375A>G chr3 37020966 37020967 MMR_MLH1_00209 + NM_000249.2(MLH1):c.378C>G chr3 37020966 37020967 MMR_MLH1_00210 + NM_000249.2(MLH1):c.378delC chr3 37020968 37020969 MMR_MLH1_00211 + NM_000249.2(MLH1):c.380G>A chr3 37020969 37020970 MMR_MLH1_00213 + NM_000249.2(MLH1):c.380+1G>A chr3 37020970 37020971 MMR_MLH1_00214 + NM_000249.2(MLH1):c.380+2T>A chr3 37020970 37020971 MMR_MLH1_00215 + NM_000249.2(MLH1):c.380+2T>C chr3 37023444 37023445 MMR_MLH1_00218 + NM_000249.2(MLH1):c.381-41A>G chr3 37023483 37023484 MMR_MLH1_00217 + NM_000249.2(MLH1):c.381-2A>G chr3 37023484 37023485 MMR_MLH1_00216 + NM_000249.2(MLH1):c.381-1G>A chr3 37023070 37024291 MMR_MLH1_00132 + NM_000249.2(MLH1):c.381-415_453+733del chr3 37023486 37023487 MMR_MLH1_00133 + NM_000249.2(MLH1):c.382delG chr3 37023486 37023487 MMR_MLH1_00219 + NM_000249.2(MLH1):c.382G>C chr3 37023489 37023491 MMR_MLH1_00087 + NM_000249.2(MLH1):c.385_386delAGinsGTT chr3 37023496 37023497 MMR_MLH1_00088 + NM_000249.2(MLH1):c.392C>A chr3 37023498 37023499 MMR_MLH1_00220 + NM_000249.2(MLH1):c.394G>C chr3 37023501 37023502 MMR_MLH1_00083 + NM_000249.2(MLH1):c.397G>T chr3 37023507 37023508 MMR_MLH1_00085 + NM_000249.2(MLH1):c.403C>G chr3 37023514 37023515 MMR_MLH1_00124 + NM_000249.2(MLH1):c.410C>T chr3 37023525 37023526 MMR_MLH1_00086 + NM_000249.2(MLH1):c.421C>G chr3 37023532 37023533 MMR_MLH1_00084 + NM_000249.2(MLH1):c.428dupC chr3 37023540 37023541 MMR_MLH1_00183 + NM_000249.2(MLH1):c.436C>T chr3 37023549 37023550 MMR_MLH1_00186 + NM_000249.2(MLH1):c.445C>T chr3 37023551 37023552 MMR_MLH1_00131 + NM_000249.2(MLH1):c.447G>C chr3 37023559 37023560 MMR_MLH1_00094 + NM_000249.2(MLH1):c.453+2T>C chr3 37023566 37023567 MMR_MLH1_00125 + NM_000249.2(MLH1):c.453+9G>A chr3 37023636 37023637 MMR_MLH1_00096 + NM_000249.2(MLH1):c.453+79A>G chr3 37024111 37024112 MMR_MLH1_00095 + NM_000249.2(MLH1):c.453+554C>T chr3 37025257 37025258 MMR_MLH1_00225 + NM_000249.2(MLH1):c.454-51T>C chr3 37025295 37025296 MMR_MLH1_00127 + NM_000249.2(MLH1):c.454-13A>G chr3 37025306 37025307 MMR_MLH1_00093 + NM_000249.2(MLH1):c.454-2A>G chr3 37025307 37025308 MMR_MLH1_00090 + NM_000249.2(MLH1):c.454-1G>A chr3 37025307 37025308 MMR_MLH1_00224 + NM_000249.2(MLH1):c.454-1G>C chr3 37025307 37025308 MMR_MLH1_00092 + NM_000249.2(MLH1):c.454-1G>T chr3 37024876 37027285 MMR_MLH1_00235 + NM_000249.2(MLH1):c.454-432_546-1030del2409 chr3 37025308 37025400 MMR_MLH1_00234 + NM_000249.2(MLH1):c.454-?_545+?del chr3 37025308 37028594 MMR_MLH1_00248 + NM_000249.2(MLH1):c.454-?_677+?del chr3 37025308 37028594 MMR_MLH1_00239 + NM_000249.2(MLH1):c.454-?_677+?dup chr3 37025308 37042502 MMR_MLH1_00243 + NM_000249.2(MLH1):c.454-?_1409+?dup chr3 37025318 37025319 MMR_MLH1_00240 + NM_000249.2(MLH1):c.464T>G chr3 37025323 37025324 MMR_MLH1_00246 + NM_000249.2(MLH1):c.469delT chr3 37025326 37025327 MMR_MLH1_00230 + NM_000249.2(MLH1):c.472A>C chr3 37025333 37025334 MMR_MLH1_00228 + NM_000249.2(MLH1):c.479C>T chr3 37025357 37025358 MMR_MLH1_00231 + NM_000249.2(MLH1):c.503dupA chr3 37025360 37025361 MMR_MLH1_00244 + NM_000249.2(MLH1):c.506C>T chr3 37025367 37025368 MMR_MLH1_00237 + NM_000249.2(MLH1):c.513delA chr3 37025377 37025379 MMR_MLH1_00227 + NM_000249.2(MLH1):c.523_524insAG chr3 37025385 37025387 MMR_MLH1_00238 + NM_000249.2(MLH1):c.531_532delinsAT chr3 37025393 37025394 MMR_MLH1_00249 + NM_000249.2(MLH1):c.539T>G chr3 37025398 37025399 MMR_MLH1_00229 + NM_000249.2(MLH1):c.544A>G chr3 37025400 37025401 MMR_MLH1_00252 + NM_000249.2(MLH1):c.545+1G>A chr3 37025402 37025403 MMR_MLH1_00253 + NM_000249.2(MLH1):c.545+3A>G chr3 37025471 37025472 MMR_MLH1_00254 + NM_000249.2(MLH1):c.545+72T>A chr3 37025479 37025480 MMR_MLH1_00255 + NM_000249.2(MLH1):c.545+80T>A chr3 37028282 37028283 MMR_MLH1_00257 + NM_000249.2(MLH1):c.546-32T>C chr3 37028312 37028313 MMR_MLH1_00251 + NM_000249.2(MLH1):c.546-2A>C chr3 37028312 37028313 MMR_MLH1_00256 + NM_000249.2(MLH1):c.546-2A>G chr3 37025399 37042502 MMR_MLH1_00270 + NM_000249.2(MLH1):c.545-?_1409+?dup chr3 37028314 37028594 MMR_MLH1_00266 + NM_000249.2(MLH1):c.546-?_677+?del chr3 37028314 37031039 MMR_MLH1_00267 + NM_000249.2(MLH1):c.546-?_790+?del chr3 37028314 37034094 MMR_MLH1_00258 + NM_000249.2(MLH1):c.546-?_884+?del chr3 37028321 37028322 MMR_MLH1_00269 + NM_000249.2(MLH1):c.553G>C chr3 37028322 37028323 MMR_MLH1_00268 + NM_000249.2(MLH1):c.554T>G chr3 37028326 37028327 MMR_MLH1_00259 + NM_000249.2(MLH1):c.558C>T chr3 37028345 37028346 MMR_MLH1_00264 + NM_000249.2(MLH1):c.577T>C chr3 37028346 37028347 MMR_MLH1_00265 + NM_000249.2(MLH1):c.578C>G chr3 37028354 37028355 MMR_MLH1_00262 + NM_000249.2(MLH1):c.586A>T chr3 37028356 37028357 MMR_MLH1_00260 + NM_000249.2(MLH1):c.588delA chr3 37028356 37028357 MMR_MLH1_00261 + NM_000249.2(MLH1):c.588dupA chr3 37028357 37028358 MMR_MLH1_00271 + NM_000249.2(MLH1):c.588+1delG chr3 37028357 37028358 MMR_MLH1_00275 + NM_000249.2(MLH1):c.588+1G>T chr3 37028359 37028363 MMR_MLH1_00276 + NM_000249.2(MLH1):c.588+3_588+6delAAGT chr3 37028361 37028362 MMR_MLH1_00277 + NM_000249.2(MLH1):c.588+5G>A chr3 37028490 37028491 MMR_MLH1_00279 + NM_000249.2(MLH1):c.589-15C>T chr3 37028495 37028496 MMR_MLH1_00278 + NM_000249.2(MLH1):c.589-10T>A chr3 37028497 37028501 MMR_MLH1_00274 + NM_000249.2(MLH1):c.589-8_589-5delTTTA chr3 37028503 37028504 MMR_MLH1_00272 + NM_000249.2(MLH1):c.589-2A>G chr3 37028495 37028499 MMR_MLH1_00273 + NM_000249.2(MLH1):c.589-7_589-10delTGTT chr3 37028511 37028512 MMR_MLH1_00292 + NM_000249.2(MLH1):c.595G>C chr3 37028513 37028515 MMR_MLH1_00291 + NM_000249.2(MLH1):c.597_598delGA chr3 37028523 37028524 MMR_MLH1_00288 + NM_000249.2(MLH1):c.607G>A chr3 37028548 37028550 MMR_MLH1_00295 + NM_000249.2(MLH1):c.632_633insT chr3 37028553 37028554 MMR_MLH1_00299 + NM_000249.2(MLH1):c.637G>A chr3 37028553 37028554 MMR_MLH1_00298 + NM_000249.2(MLH1):c.637G>T chr3 37028565 37028566 MMR_MLH1_00281 + NM_000249.2(MLH1):c.649C>T chr3 37028565 37028566 MMR_MLH1_00282 + NM_000249.2(MLH1):c.649delC chr3 37028571 37028572 MMR_MLH1_00293 + NM_000249.2(MLH1):c.655A>C chr3 37028571 37028572 MMR_MLH1_00294 + NM_000249.2(MLH1):c.655A>G chr3 37028581 37028582 MMR_MLH1_00287 + NM_000249.2(MLH1):c.665delA chr3 37028581 37028582 MMR_MLH1_00286 + NM_000249.2(MLH1):c.665dupA chr3 37028589 37028593 MMR_MLH1_00296 + NM_000249.2(MLH1):c.673_676delAGTC chr3 37028590 37028591 MMR_MLH1_00297 + NM_000249.2(MLH1):c.674delG chr3 37028592 37028593 MMR_MLH1_00285 + NM_000249.2(MLH1):c.676C>T chr3 37028593 37028594 MMR_MLH1_00283 + NM_000249.2(MLH1):c.677G>A chr3 37028593 37028594 MMR_MLH1_00284 + NM_000249.2(MLH1):c.677G>T chr3 37028594 37028595 MMR_MLH1_00307 + NM_000249.2(MLH1):c.677+1delG chr3 37028594 37028595 MMR_MLH1_00303 + NM_000249.2(MLH1):c.677+1G>A chr3 37028594 37028595 MMR_MLH1_00309 + NM_000249.2(MLH1):c.677+1G>T chr3 37028596 37028597 MMR_MLH1_00250 + NM_000249.2(MLH1):c.677+3A>C chr3 37028596 37028597 MMR_MLH1_00304 + NM_000249.2(MLH1):c.677+3A>G chr3 37028597 37028598 MMR_MLH1_00311 + NM_000249.2(MLH1):c.677+4dupT chr3 37028609 37028610 MMR_MLH1_00306 + NM_000249.2(MLH1):c.677+16delA chr3 37030923 37030924 MMR_MLH1_00315 + NM_000249.2(MLH1):c.678-3T>A chr3 37030923 37030925 MMR_MLH1_00314 + NM_000249.2(MLH1):c.678-3_678-2delTA chr3 37030925 37030926 MMR_MLH1_00313 + NM_000249.2(MLH1):c.678-1G>C chr3 37030925 37030926 MMR_MLH1_00305 + NM_000249.2(MLH1):c.678-1G>T chr3 37030926 37034094 MMR_MLH1_00320 + NM_000249.2(MLH1):c.678-?_884+?del chr3 37030926 37045427 MMR_MLH1_00321 + NM_000249.2(MLH1):c.678-?_1558-?del chr3 37030931 37030932 MMR_MLH1_00331 + NM_000249.2(MLH1):c.683dupT chr3 37030941 37030942 MMR_MLH1_00327 + NM_000249.2(MLH1):c.693delT chr3 37030941 37030942 MMR_MLH1_00328 + NM_000249.2(MLH1):c.693T>C chr3 37030945 37030946 MMR_MLH1_00319 + NM_000249.2(MLH1):c.697T>C chr3 37030949 37030950 MMR_MLH1_00323 + NM_000249.2(MLH1):c.701A>G chr3 37030950 37030951 MMR_MLH1_00322 + NM_000249.2(MLH1):c.702G>A chr3 37030965 37030966 MMR_MLH1_00316 + NM_000249.2(MLH1):c.717C>A chr3 37030975 37030979 MMR_MLH1_00318 + NM_000249.2(MLH1):c.727_730delAATG chr3 37030979 37030980 MMR_MLH1_00324 + NM_000249.2(MLH1):c.731G>A chr3 37030979 37030980 MMR_MLH1_00325 + NM_000249.2(MLH1):c.731G>T chr3 37030987 37030988 MMR_MLH1_00336 + NM_000249.2(MLH1):c.739T>C chr3 37030993 37030994 MMR_MLH1_00317 + NM_000249.2(MLH1):c.745dupG chr3 37031001 37031002 MMR_MLH1_00338 + NM_000249.2(MLH1):c.753C>T chr3 37031003 37031004 MMR_MLH1_00337 + NM_000249.2(MLH1):c.755C>A chr3 37031013 37031014 MMR_MLH1_00335 + NM_000249.2(MLH1):c.765G>A chr3 37031017 37031018 MMR_MLH1_00329 + NM_000249.2(MLH1):c.769delA chr3 37031024 37031025 MMR_MLH1_00332 + NM_000249.2(MLH1):c.776T>C chr3 37031026 37031027 MMR_MLH1_00334 + NM_000249.2(MLH1):c.778C>T chr3 37031027 37031028 MMR_MLH1_00333 + NM_000249.2(MLH1):c.779T>G chr3 37031032 37031035 MMR_MLH1_00330 + NM_000249.2(MLH1):c.784_786delATC chr3 37031038 37031039 MMR_MLH1_00326 + NM_000249.2(MLH1):c.790C>T chr3 37031039 37031040 MMR_MLH1_00347 + NM_000249.2(MLH1):c.790+1delG chr3 37031039 37031040 MMR_MLH1_00340 + NM_000249.2(MLH1):c.790+1G>A chr3 37031039 37031040 MMR_MLH1_00341 + NM_000249.2(MLH1):c.790+1G>C chr3 37031040 37031041 MMR_MLH1_00342 + NM_000249.2(MLH1):c.790+2dupT chr3 37031040 37031041 MMR_MLH1_00351 + NM_000249.2(MLH1):c.790+2T>A chr3 37031040 37031041 MMR_MLH1_00343 + NM_000249.2(MLH1):c.790+2T>C chr3 37031040 37031042 MMR_MLH1_00349 + NM_000249.2(MLH1):c.790+2_790+3insT chr3 37031041 37031042 MMR_MLH1_00344 + NM_000249.2(MLH1):c.790+3A>T chr3 37031042 37031043 MMR_MLH1_00339 + NM_000249.2(MLH1):c.790+4A>G chr3 37031048 37031049 MMR_MLH1_00346 + NM_000249.2(MLH1):c.790+10A>G chr3 37031100 37031101 MMR_MLH1_00353 + NM_000249.2(MLH1):c.790+62G>A chr3 37031993 37031994 MMR_MLH1_00354 + NM_000249.2(MLH1):c.790+955C>A chr3 37033966 37033967 MMR_MLH1_00359 + NM_000249.2(MLH1):c.791-34G>A chr3 37033977 37033978 MMR_MLH1_00357 + NM_000249.2(MLH1):c.791-23delG chr3 37033995 37033996 MMR_MLH1_00345 + NM_000249.2(MLH1):c.791-5T>G chr3 37033998 37033999 MMR_MLH1_00358 + NM_000249.2(MLH1):c.791-2A>G chr3 37033999 37034000 MMR_MLH1_00355 + NM_000249.2(MLH1):c.791-1G>C chr3 37033999 37034000 MMR_MLH1_00356 + NM_000249.2(MLH1):c.791-1G>T chr3 37034000 37034094 MMR_MLH1_00371 + NM_000249.2(MLH1):c.791-?_884+?del chr3 37034000 37045427 MMR_MLH1_00375 + NM_000249.2(MLH1):c.791-?_1558+?del chr3 37034000 37034001 MMR_MLH1_00376 + NM_000249.2(MLH1):c.791A>G chr3 37034000 37034004 MMR_MLH1_00377 + NM_000249.2(MLH1):c.791_794delATCG chr3 37034002 37034003 MMR_MLH1_00365 + NM_000249.2(MLH1):c.793C>A chr3 37034002 37034003 MMR_MLH1_00363 + NM_000249.2(MLH1):c.793C>T chr3 37034003 37034004 MMR_MLH1_00364 + NM_000249.2(MLH1):c.794G>A chr3 37034012 37034013 MMR_MLH1_00370 + NM_000249.2(MLH1):c.803A>G chr3 37034015 37034016 MMR_MLH1_00387 + NM_000249.2(MLH1):c.806C>G chr3 37034017 37034021 MMR_MLH1_00391 + NM_000249.2(MLH1):c.808_811delACTT chr3 37034023 37034024 MMR_MLH1_00379 + NM_000249.2(MLH1):c.814T>G chr3 37034024 37034025 MMR_MLH1_00378 + NM_000249.2(MLH1):c.815T>C chr3 37034030 37034034 MMR_MLH1_00360 + NM_000249.2(MLH1):c.821_824dupAAGC chr3 37034049 37034050 MMR_MLH1_00392 + NM_000249.2(MLH1):c.840T>A chr3 37034051 37034052 MMR_MLH1_00361 + NM_000249.2(MLH1):c.842C>T chr3 37034054 37034055 MMR_MLH1_00362 + NM_000249.2(MLH1):c.845C>G chr3 37034060 37034061 MMR_MLH1_00380 + NM_000249.2(MLH1):c.851T>A chr3 37034064 37034065 MMR_MLH1_00386 + NM_000249.2(MLH1):c.855C>T chr3 37034065 37034066 MMR_MLH1_00384 + NM_000249.2(MLH1):c.856A>C chr3 37034065 37034067 MMR_MLH1_00383 + NM_000249.2(MLH1):c.856_857insT chr3 37034068 37034070 MMR_MLH1_00367 + NM_000249.2(MLH1):c.859_860delAA chr3 37034069 37034070 MMR_MLH1_00368 + NM_000249.2(MLH1):c.860dupA chr3 37034070 37034071 MMR_MLH1_00366 + NM_000249.2(MLH1):c.861C>T chr3 37034081 37034082 MMR_MLH1_00385 + NM_000249.2(MLH1):c.872delT chr3 37034084 37034085 MMR_MLH1_00381 + NM_000249.2(MLH1):c.875T>C chr3 37034091 37034092 MMR_MLH1_00372 + NM_000249.2(MLH1):c.882C>T chr3 37034092 37034093 MMR_MLH1_00374 + NM_000249.2(MLH1):c.883A>C chr3 37034092 37034093 MMR_MLH1_00388 + NM_000249.2(MLH1):c.883A>G chr3 37034092 37034096 MMR_MLH1_00373 + NM_000249.2(MLH1):c.883_884+2delAGGT chr3 37034093 37034094 MMR_MLH1_00393 + NM_000249.2(MLH1):c.884G>A chr3 37034093 37034094 MMR_MLH1_00390 + NM_000249.2(MLH1):c.884G>C chr3 37034095 37034096 MMR_MLH1_00395 + NM_000249.2(MLH1):c.884+2T>C chr3 37034096 37034097 MMR_MLH1_00396 + NM_000249.2(MLH1):c.884+3A>G chr3 37034097 37034098 MMR_MLH1_00394 + NM_000249.2(MLH1):c.884+4A>G chr3 37036780 37036781 MMR_MLH1_00399 + NM_000249.2(MLH1):c.885-24T>A chr3 37036788 37036790 MMR_MLH1_00398 + NM_000249.2(MLH1):c.885-16_885-15delCT chr3 37036802 37036803 MMR_MLH1_00400 + NM_000249.2(MLH1):c.885-2A>G chr3 37036207 37043551 MMR_MLH1_00413 + NM_000249.2(MLH1):c.885-597_1338+1120del chr3 37036804 37036958 MMR_MLH1_00425 + NM_000249.2(MLH1):c.885-?_1038+?del chr3 37036804 37058826 MMR_MLH1_00426 + NM_000249.2(MLH1):c.885-?_1731+?del chr3 37036804 37067148 MMR_MLH1_00424 + NM_000249.2(MLH1):c.885-?_2271+?del chr3 37036806 37036807 MMR_MLH1_00420 + NM_000249.2(MLH1):c.887dupT chr3 37036806 37036807 MMR_MLH1_00421 + NM_000249.2(MLH1):c.887T>G chr3 37036807 37036809 MMR_MLH1_00419 + NM_000249.2(MLH1):c.888_889insTCCTGACAGTTT chr3 37036808 37036809 MMR_MLH1_00410 + NM_000249.2(MLH1):c.889G>T chr3 37036820 37036821 MMR_MLH1_00407 + NM_000249.2(MLH1):c.901C>T chr3 37036830 37036831 MMR_MLH1_00406 + NM_000249.2(MLH1):c.911A>T chr3 37036840 37036842 MMR_MLH1_00414 + NM_000249.2(MLH1):c.921_922dupGC chr3 37036846 37036847 MMR_MLH1_00423 + NM_000249.2(MLH1):c.927C>T chr3 37036854 37036855 MMR_MLH1_00415 + NM_000249.2(MLH1):c.935dupA chr3 37036858 37036859 MMR_MLH1_00432 + NM_000249.2(MLH1):c.939dupA chr3 37036873 37036874 MMR_MLH1_00416 + NM_000249.2(MLH1):c.954delC chr3 37036874 37036875 MMR_MLH1_00411 + NM_000249.2(MLH1):c.955G>T chr3 37036881 37036882 MMR_MLH1_00427 + NM_000249.2(MLH1):c.962G>T chr3 37036890 37036899 MMR_MLH1_00401 + NM_000249.2(MLH1):c.971_979delAGCGGGTGC chr3 37036893 37036894 MMR_MLH1_00402 + NM_000249.2(MLH1):c.974G>A chr3 37036896 37036897 MMR_MLH1_00433 + NM_000249.2(MLH1):c.977T>C chr3 37036905 37036906 MMR_MLH1_00417 + NM_000249.2(MLH1):c.986A>C chr3 37036907 37036910 MMR_MLH1_00418 + NM_000249.2(MLH1):c.988_990delATC chr3 37036913 37036914 MMR_MLH1_00428 + NM_000249.2(MLH1):c.994delA chr3 37036926 37036927 MMR_MLH1_00412 + NM_000249.2(MLH1):c.1007delG chr3 37036930 37036931 MMR_MLH1_00429 + NM_000249.2(MLH1):c.1011delC chr3 37036930 37036931 MMR_MLH1_00404 + NM_000249.2(MLH1):c.1011dupC chr3 37036932 37036933 MMR_MLH1_00405 + NM_000249.2(MLH1):c.1013A>G chr3 37036936 37036937 MMR_MLH1_00430 + NM_000249.2(MLH1):c.1017delC chr3 37036942 37036943 MMR_MLH1_00403 + NM_000249.2(MLH1):c.1023delG chr3 37036956 37036957 MMR_MLH1_00434 + NM_000249.2(MLH1):c.1037A>G chr3 37036957 37036958 MMR_MLH1_00408 + NM_000249.2(MLH1):c.1038G>A chr3 37036957 37036958 MMR_MLH1_00409 + NM_000249.2(MLH1):c.1038G>C chr3 37036958 37036959 MMR_MLH1_00435 + NM_000249.2(MLH1):c.1038+1G>C chr3 37036966 37036967 MMR_MLH1_00440 + NM_000249.2(MLH1):c.1038+9G>A chr3 37036976 37036977 MMR_MLH1_00437 + NM_000249.2(MLH1):c.1038+19C>T chr3 37037008 37037009 MMR_MLH1_00438 + NM_000249.2(MLH1):c.1038+51C>T chr3 37037043 37037044 MMR_MLH1_00439 + NM_000249.2(MLH1):c.1038+86T>C chr3 37042129 37042130 MMR_MLH1_00443 + NM_000249.2(MLH1):c.1039-2A>G chr3 37042130 37042131 MMR_MLH1_00441 + NM_000249.2(MLH1):c.1039-1G>A chr3 37042130 37042131 MMR_MLH1_00442 + NM_000249.2(MLH1):c.1039-1G>C chr3 37042131 37042502 MMR_MLH1_00486 + NM_000249.2(MLH1):c.1039-?_1409+?del chr3 37042131 37045427 MMR_MLH1_00488 + NM_000249.2(MLH1):c.1039-?_1558+?del chr3 37042148 37042149 MMR_MLH1_00467 + NM_000249.2(MLH1):c.1056T>A chr3 37042150 37042151 MMR_MLH1_00445 + NM_000249.2(MLH1):c.1058C>T chr3 37042153 37042154 MMR_MLH1_00462 + NM_000249.2(MLH1):c.1061delG chr3 37042160 37042168 MMR_MLH1_00458 + NM_000249.2(MLH1):c.1068_1075delTGGGGAGA chr3 37042182 37042183 MMR_MLH1_00489 + NM_000249.2(MLH1):c.1090A>G chr3 37042193 37042194 MMR_MLH1_00490 + NM_000249.2(MLH1):c.1101delC chr3 37042219 37042221 MMR_MLH1_00471 + NM_000249.2(MLH1):c.1127_1128dupAT chr3 37042233 37042234 MMR_MLH1_00466 + NM_000249.2(MLH1):c.1141C>T chr3 37042242 37042243 MMR_MLH1_00494 + NM_000249.2(MLH1):c.1150delG chr3 37042243 37042244 MMR_MLH1_00493 + NM_000249.2(MLH1):c.1151T>A chr3 37042245 37042246 MMR_MLH1_00447 + NM_000249.2(MLH1):c.1153C>T chr3 37042246 37042247 MMR_MLH1_00448 + NM_000249.2(MLH1):c.1154G>C chr3 37042258 37042259 MMR_MLH1_00449 + NM_000249.2(MLH1):c.1166G>A chr3 37042282 37042283 MMR_MLH1_00468 + NM_000249.2(MLH1):c.1190delT chr3 37042284 37042285 MMR_MLH1_00453 + NM_000249.2(MLH1):c.1192C>T chr3 37042290 37042291 MMR_MLH1_00469 + NM_000249.2(MLH1):c.1198C>G chr3 37042302 37042304 MMR_MLH1_00470 + NM_000249.2(MLH1):c.1210_1211delCT chr3 37042309 37042310 MMR_MLH1_00481 + NM_000249.2(MLH1):c.1217G>A chr3 37042317 37042318 MMR_MLH1_00455 + NM_000249.2(MLH1):c.1225C>T chr3 37042330 37042331 MMR_MLH1_00491 + NM_000249.2(MLH1):c.1238C>T chr3 37042344 37042346 MMR_MLH1_00451 + NM_000249.2(MLH1):c.1252_1253delGA chr3 37042346 37042347 MMR_MLH1_00450 + NM_000249.2(MLH1):c.1254T>G/A chr3 37042351 37042352 MMR_MLH1_00482 + NM_000249.2(MLH1):c.1259C>G chr3 37042353 37042354 MMR_MLH1_00483 + NM_000249.2(MLH1):c.1261delA chr3 37042358 37042359 MMR_MLH1_00464 + NM_000249.2(MLH1):c.1266C>T chr3 37042368 37042369 MMR_MLH1_00456 + NM_000249.2(MLH1):c.1276C>T chr3 37042389 37042390 MMR_MLH1_00459 + NM_000249.2(MLH1):c.1297G>C chr3 37042396 37042397 MMR_MLH1_00477 + NM_000249.2(MLH1):c.1304C>T chr3 37042402 37042403 MMR_MLH1_00478 + NM_000249.2(MLH1):c.1310delC chr3 37042413 37042414 MMR_MLH1_00446 + NM_000249.2(MLH1):c.1321G>A chr3 37042419 37042420 MMR_MLH1_00472 + NM_000249.2(MLH1):c.1327A>C chr3 37042426 37042427 MMR_MLH1_00457 + NM_000249.2(MLH1):c.1334delA chr3 37042435 37042436 MMR_MLH1_00460 + NM_000249.2(MLH1):c.1343delA chr3 37042439 37042461 MMR_MLH1_00452 + NM_000249.2(MLH1):c.1347_1368del22insTAAA chr3 37042446 37042447 MMR_MLH1_00492 + NM_000249.2(MLH1):c.1354delA chr3 37042452 37042453 MMR_MLH1_00465 + NM_000249.2(MLH1):c.1360G>C chr3 37042465 37042466 MMR_MLH1_00476 + NM_000249.2(MLH1):c.1373T>A chr3 37042469 37042470 MMR_MLH1_00461 + NM_000249.2(MLH1):c.1377dupA chr3 37042472 37042474 MMR_MLH1_00474 + NM_000249.2(MLH1):c.1380_1381insT chr3 37042473 37042474 MMR_MLH1_00475 + NM_000249.2(MLH1):c.1381A>T chr3 37042475 37042476 MMR_MLH1_00473 + NM_000249.2(MLH1):c.1383G>T/C chr3 37042484 37042485 MMR_MLH1_00479 + NM_000249.2(MLH1):c.1392T>C chr3 37042490 37042491 MMR_MLH1_00485 + NM_000249.2(MLH1):c.1398delC chr3 37042498 37042499 MMR_MLH1_00480 + NM_000249.2(MLH1):c.1406C>T chr3 37042502 37042503 MMR_MLH1_00497 + NM_000249.2(MLH1):c.1409+1G>A chr3 37042502 37042503 MMR_MLH1_00496 + NM_000249.2(MLH1):c.1409+1G>C chr3 37045223 37045224 MMR_MLH1_00500 + NM_000249.2(MLH1):c.1410-55G>T chr3 37045224 37045225 MMR_MLH1_00499 + NM_000249.2(MLH1):c.1410-54C>T chr3 37045255 37045256 MMR_MLH1_00498 + NM_000249.2(MLH1):c.1410-23G>T chr3 37045278 37045427 MMR_MLH1_00502 + NM_000249.2(MLH1):c.1410-?_1558+?del chr3 37045278 37058826 MMR_MLH1_00503 + NM_000249.2(MLH1):c.1410-?_1731+?del chr3 37045278 37067148 MMR_MLH1_00504 + NM_000249.2(MLH1):c.1410-?_2271+?del chr3 37045279 37045283 MMR_MLH1_00527 + NM_000249.2(MLH1):c.1411_1414delAAGA chr3 37045280 37045281 MMR_MLH1_00506 + NM_000249.2(MLH1):c.1412dupA chr3 37045281 37045282 MMR_MLH1_00528 + NM_000249.2(MLH1):c.1413G>A chr3 37045281 37045285 MMR_MLH1_00526 + NM_000249.2(MLH1):c.1413_1416delGAGA chr3 37045282 37045283 MMR_MLH1_00505 + NM_000249.2(MLH1):c.1414dupA chr3 37045283 37045284 MMR_MLH1_00507 + NM_000249.2(MLH1):c.1415G>T chr3 37045283 37045285 MMR_MLH1_00508 + NM_000249.2(MLH1):c.1415_1416delGA chr3 37045288 37045289 MMR_MLH1_00509 + NM_000249.2(MLH1):c.1420delC chr3 37045289 37045290 MMR_MLH1_00510 + NM_000249.2(MLH1):c.1421G>A chr3 37045321 37045322 MMR_MLH1_00516 + NM_000249.2(MLH1):c.1453G>C chr3 37045323 37045324 MMR_MLH1_00515 + NM_000249.2(MLH1):c.1455T>A chr3 37045327 37045328 MMR_MLH1_00511 + NM_000249.2(MLH1):c.1459C>T chr3 37045331 37045332 MMR_MLH1_00529 + NM_000249.2(MLH1):c.1463delA chr3 37045339 37045340 MMR_MLH1_00532 + NM_000249.2(MLH1):c.1471delA chr3 37045342 37045343 MMR_MLH1_00501 + NM_000249.2(MLH1):c.1474G>A chr3 37045355 37045356 MMR_MLH1_00530 + NM_000249.2(MLH1):c.1487C>G chr3 37045355 37045356 MMR_MLH1_00531 + NM_000249.2(MLH1):c.1487C>T chr3 37045357 37045358 MMR_MLH1_00512 + NM_000249.2(MLH1):c.1489delC chr3 37045357 37045358 MMR_MLH1_00513 + NM_000249.2(MLH1):c.1489dupC chr3 37045357 37045359 MMR_MLH1_00534 + NM_000249.2(MLH1):c.1489_1490ins11 chr3 37045359 37045360 MMR_MLH1_00514 + NM_000249.2(MLH1):c.1491delG chr3 37045365 37045366 MMR_MLH1_00518 + NM_000249.2(MLH1):c.1497delG chr3 37045367 37045370 MMR_MLH1_00524 + NM_000249.2(MLH1):c.1499_1501delTCA chr3 37045385 37045386 MMR_MLH1_00533 + NM_000249.2(MLH1):c.1517T>C chr3 37045388 37045389 MMR_MLH1_00525 + NM_000249.2(MLH1):c.1520dupT chr3 37045396 37045397 MMR_MLH1_00517 + NM_000249.2(MLH1):c.1528C>T chr3 37045402 37045403 MMR_MLH1_00519 + NM_000249.2(MLH1):c.1534G>T chr3 37045410 37045411 MMR_MLH1_00521 + NM_000249.2(MLH1):c.1542dupT chr3 37045411 37045412 MMR_MLH1_00520 + NM_000249.2(MLH1):c.1543G>A chr3 37045417 37045418 MMR_MLH1_00523 + NM_000249.2(MLH1):c.1549G>T chr3 37045422 37045423 MMR_MLH1_00522 + NM_000249.2(MLH1):c.1554dupT chr3 37045427 37045428 MMR_MLH1_00542 + NM_000249.2(MLH1):c.1558+1G>T chr3 37045426 37056681 MMR_MLH1_00537 + NM_000249.2(MLH1):c.1558+?_1559-?del chr3 37045437 37045438 MMR_MLH1_00538 + NM_000249.2(MLH1):c.1558+11G>A chr3 37045439 37045440 MMR_MLH1_00539 + NM_000249.2(MLH1):c.1558+13T>A chr3 37045440 37045441 MMR_MLH1_00540 + NM_000249.2(MLH1):c.1558+14G>A chr3 37045443 37045444 MMR_MLH1_00541 + NM_000249.2(MLH1):c.1558+17G>A chr3 37045484 37045485 MMR_MLH1_00545 + NM_000249.2(MLH1):c.1558+58G>A chr3 37047630 37047631 MMR_MLH1_00543 + NM_000249.2(MLH1):c.1558+2204A>C chr3 37049671 37049672 MMR_MLH1_00544 + NM_000249.2(MLH1):c.1558+4245A>G chr3 37053509 37053510 MMR_MLH1_00550 + NM_000249.2(MLH1):c.1559-3171A>G chr3 37056671 37056672 MMR_MLH1_00551 + NM_000249.2(MLH1):c.1559-9dupG chr3 37056678 37056679 MMR_MLH1_00548 + NM_000249.2(MLH1):c.1559-2A>C chr3 37056678 37056679 MMR_MLH1_00536 + NM_000249.2(MLH1):c.1559-2A>G chr3 37056678 37056679 MMR_MLH1_00549 + NM_000249.2(MLH1):c.1559-2A>T chr3 37056679 37056680 MMR_MLH1_00546 + NM_000249.2(MLH1):c.1559-1G>A chr3 37056679 37056680 MMR_MLH1_00547 + NM_000249.2(MLH1):c.1559-1G>C chr3 37056679 37056680 MMR_MLH1_00535 + NM_000249.2(MLH1):c.1559-1G>T chr3 37056680 37056789 MMR_MLH1_00563 + NM_000249.2(MLH1):c.1559-?_1667+?del chr3 37056680 37058826 MMR_MLH1_00576 + NM_000249.2(MLH1):c.1559-?_1731+?del chr3 37056680 37067148 MMR_MLH1_00577 + NM_000249.2(MLH1):c.1559-?_2271+?del chr3 37056682 37056683 MMR_MLH1_00564 + NM_000249.2(MLH1):c.1561C>A chr3 37056685 37056686 MMR_MLH1_00554 + NM_000249.2(MLH1):c.1564C>T chr3 37056686 37056687 MMR_MLH1_00553 + NM_000249.2(MLH1):c.1565G>T chr3 37056690 37056691 MMR_MLH1_00561 + NM_000249.2(MLH1):c.1569G>T chr3 37056694 37056695 MMR_MLH1_00566 + NM_000249.2(MLH1):c.1573T>C chr3 37056694 37056696 MMR_MLH1_00565 + NM_000249.2(MLH1):c.1573_1574delTT chr3 37056697 37056698 MMR_MLH1_00562 + NM_000249.2(MLH1):c.1576C>T chr3 37056712 37056714 MMR_MLH1_00578 + NM_000249.2(MLH1):c.1591_1592delGT chr3 37056717 37056718 MMR_MLH1_00310 + NM_000249.2(MLH1):c.1596C>T chr3 37056730 37056731 MMR_MLH1_00556 + NM_000249.2(MLH1):c.1609C>T chr3 37056741 37056743 MMR_MLH1_00567 + NM_000249.2(MLH1):c.1620_1621delGG chr3 37056743 37056744 MMR_MLH1_00552 + NM_000249.2(MLH1):c.1622delC chr3 37056745 37056746 MMR_MLH1_00559 + NM_000249.2(MLH1):c.1624C>T chr3 37056746 37056747 MMR_MLH1_00558 + NM_000249.2(MLH1):c.1625A>C chr3 37056746 37056747 MMR_MLH1_00557 + NM_000249.2(MLH1):c.1625A>T chr3 37056751 37056752 MMR_MLH1_00560 + NM_000249.2(MLH1):c.1630C>T chr3 37056761 37056762 MMR_MLH1_00568 + NM_000249.2(MLH1):c.1640T>A chr3 37056765 37056766 MMR_MLH1_00575 + NM_000249.2(MLH1):c.1644C>G chr3 37056767 37056768 MMR_MLH1_00569 + NM_000249.2(MLH1):c.1646T>C chr3 37056770 37056771 MMR_MLH1_00570 + NM_000249.2(MLH1):c.1649T>C chr3 37056773 37056774 MMR_MLH1_00555 + NM_000249.2(MLH1):c.1652A>C chr3 37056779 37056782 MMR_MLH1_00574 + NM_000249.2(MLH1):c.1658_1660delCCA chr3 37056785 37056787 MMR_MLH1_00571 + NM_000249.2(MLH1):c.1664_1665insAAGT chr3 37056787 37056788 MMR_MLH1_00573 + NM_000249.2(MLH1):c.1666A>G chr3 37056788 37056789 MMR_MLH1_00579 + NM_000249.2(MLH1):c.1667G>T chr3 37057877 37057878 MMR_MLH1_00589 + NM_000249.2(MLH1):c.1668-885T>C chr3 37058743 37058744 MMR_MLH1_00585 + NM_000249.2(MLH1):c.1668-19A>G chr3 37058759 37058760 MMR_MLH1_00587 + NM_000249.2(MLH1):c.1668-3C>A chr3 37058759 37058760 MMR_MLH1_00588 + NM_000249.2(MLH1):c.1668-3C>T chr3 37058761 37058762 MMR_MLH1_00580 + NM_000249.2(MLH1):c.1668-1G>A chr3 37058762 37064016 MMR_MLH1_00597 + NM_000249.2(MLH1):c.1668-?_1734+?del chr3 37058762 37064178 MMR_MLH1_00822 + NM_000249.2(MLH1):c.1668-?_1896+?del chr3 37058763 37058764 MMR_MLH1_00592 + NM_000249.2(MLH1):c.1669G>T chr3 37058766 37058767 MMR_MLH1_00593 + NM_000249.2(MLH1):c.1672G>T chr3 37058770 37058771 MMR_MLH1_00595 + NM_000249.2(MLH1):c.1676T>G chr3 37058777 37058778 MMR_MLH1_00602 + NM_000249.2(MLH1):c.1683C>G chr3 37058778 37058779 MMR_MLH1_00591 + NM_000249.2(MLH1):c.1684C>T chr3 37058783 37058784 MMR_MLH1_00600 + NM_000249.2(MLH1):c.1689dupA chr3 37058787 37058788 MMR_MLH1_00594 + NM_000249.2(MLH1):c.1693A>T chr3 37058811 37058813 MMR_MLH1_00603 + NM_000249.2(MLH1):c.1717_1718delGT chr3 37058815 37058816 MMR_MLH1_00596 + NM_000249.2(MLH1):c.1721T>C chr3 37058819 37058820 MMR_MLH1_00590 + NM_000249.2(MLH1):c.1725delG chr3 37058825 37058826 MMR_MLH1_00598 + NM_000249.2(MLH1):c.1731G>A chr3 37058826 37058827 MMR_MLH1_00607 + NM_000249.2(MLH1):c.1731+1G>A chr3 37058826 37058827 MMR_MLH1_00609 + NM_000249.2(MLH1):c.1731+1G>C chr3 37058827 37058828 MMR_MLH1_00611 + NM_000249.2(MLH1):c.1731+2T>G chr3 37063993 37063994 MMR_MLH1_00614 + NM_000249.2(MLH1):c.1732-20A>G chr3 37064004 37064005 MMR_MLH1_00617 + NM_000249.2(MLH1):c.1732-9T>C chr3 37064008 37064009 MMR_MLH1_00616 + NM_000249.2(MLH1):c.1732-5C>T chr3 37064011 37064012 MMR_MLH1_00606 + NM_000249.2(MLH1):c.1732-2A>T chr3 37064012 37064013 MMR_MLH1_00605 + NM_000249.2(MLH1):c.1732-1G>A chr3 37064013 37064178 MMR_MLH1_00630 + NM_000249.2(MLH1):c.1732-?_1896+?del chr3 37064013 37067148 MMR_MLH1_00629 + NM_000249.2(MLH1):c.1732-?_2271+?del chr3 37064023 37064024 MMR_MLH1_00664 + NM_000249.2(MLH1):c.1742C>T chr3 37064025 37064026 MMR_MLH1_00637 + NM_000249.2(MLH1):c.1744C>G chr3 37064025 37064026 MMR_MLH1_00635 + NM_000249.2(MLH1):c.1744C>T chr3 37064026 37064027 MMR_MLH1_00636 + NM_000249.2(MLH1):c.1745T>C chr3 37064030 37064031 MMR_MLH1_00659 + NM_000249.2(MLH1):c.1749delT chr3 37064037 37064038 MMR_MLH1_00622 + NM_000249.2(MLH1):c.1756G>C chr3 37064038 37064039 MMR_MLH1_00618 + NM_000249.2(MLH1):c.1757C>A chr3 37064038 37064040 MMR_MLH1_00621 + NM_000249.2(MLH1):c.1757_1758insT chr3 37064039 37064040 MMR_MLH1_00619 + NM_000249.2(MLH1):c.1758delC chr3 37064039 37064040 MMR_MLH1_00620 + NM_000249.2(MLH1):c.1758dupC chr3 37064044 37064045 MMR_MLH1_00639 + NM_000249.2(MLH1):c.1763T>C chr3 37064045 37064046 MMR_MLH1_00638 + NM_000249.2(MLH1):c.1764delT chr3 37064047 37064048 MMR_MLH1_00623 + NM_000249.2(MLH1):c.1766C>A chr3 37064050 37064051 MMR_MLH1_00640 + NM_000249.2(MLH1):c.1769delT chr3 37064050 37064054 MMR_MLH1_00641 + NM_000249.2(MLH1):c.1769_1772delTAGA chr3 37064053 37064057 MMR_MLH1_00626 + NM_000249.2(MLH1):c.1772_1775delATAG chr3 37064059 37064061 MMR_MLH1_00665 + NM_000249.2(MLH1):c.1778_1779delCA chr3 37064064 37064066 MMR_MLH1_00667 + NM_000249.2(MLH1):c.1783_1784delAG chr3 37064071 37064072 MMR_MLH1_00669 + NM_000249.2(MLH1):c.1790G>A chr3 37064083 37064084 MMR_MLH1_00627 + NM_000249.2(MLH1):c.1802A>G chr3 37064089 37064090 MMR_MLH1_00666 + NM_000249.2(MLH1):c.1808C>G chr3 37064091 37064092 MMR_MLH1_00646 + NM_000249.2(MLH1):c.1810A>T chr3 37064093 37064094 MMR_MLH1_00632 + NM_000249.2(MLH1):c.1812dupA chr3 37064101 37064102 MMR_MLH1_00642 + NM_000249.2(MLH1):c.1820T>A chr3 37064112 37064114 MMR_MLH1_00634 + NM_000249.2(MLH1):c.1831_1832delAT chr3 37064116 37064119 MMR_MLH1_00672 + NM_000249.2(MLH1):c.1835_1837delTTG chr3 37064127 37064130 MMR_MLH1_00647 + NM_000249.2(MLH1):c.1846_1848delAAG chr3 37064133 37064134 MMR_MLH1_00653 + NM_000249.2(MLH1):c.1852A>G chr3 37064133 37064134 MMR_MLH1_00656 + NM_000249.2(MLH1):c.1852A>T chr3 37064133 37064135 MMR_MLH1_00648 + NM_000249.2(MLH1):c.1852_1853delinsGC chr3 37064133 37064136 MMR_MLH1_00652 + NM_000249.2(MLH1):c.1852_1854delAAG chr3 37064134 37064135 MMR_MLH1_00655 + NM_000249.2(MLH1):c.1853A>C chr3 37064134 37064135 MMR_MLH1_00649 + NM_000249.2(MLH1):c.1853A>G chr3 37064136 37064137 MMR_MLH1_00624 + NM_000249.2(MLH1):c.1855delG chr3 37064146 37064147 MMR_MLH1_00643 + NM_000249.2(MLH1):c.1865T>A chr3 37064146 37064147 MMR_MLH1_00644 + NM_000249.2(MLH1):c.1865T>C chr3 37064156 37064157 MMR_MLH1_00670 + NM_000249.2(MLH1):c.1875T>G chr3 37064158 37064159 MMR_MLH1_00660 + NM_000249.2(MLH1):c.1877delT chr3 37064158 37064159 MMR_MLH1_00663 + NM_000249.2(MLH1):c.1877T>C chr3 37064158 37064165 MMR_MLH1_00661 + NM_000249.2(MLH1):c.1877_1883delTCTCTTT chr3 37064159 37064160 MMR_MLH1_00662 + NM_000249.2(MLH1):c.1878C>T chr3 37064160 37064161 MMR_MLH1_00668 + NM_000249.2(MLH1):c.1879T>A chr3 37064165 37064170 MMR_MLH1_00645 + NM_000249.2(MLH1):c.1884_1888delGGAAA chr3 37064173 37064174 MMR_MLH1_00628 + NM_000249.2(MLH1):c.1892A>C chr3 37064177 37064178 MMR_MLH1_00633 + NM_000249.2(MLH1):c.1896delG chr3 37064177 37064178 MMR_MLH1_00673 + NM_000249.2(MLH1):c.1896G>A chr3 37064178 37064179 MMR_MLH1_00675 + NM_000249.2(MLH1):c.1896+1delG chr3 37064178 37064179 MMR_MLH1_00674 + NM_000249.2(MLH1):c.1896+1G>A chr3 37064178 37064179 MMR_MLH1_00676 + NM_000249.2(MLH1):c.1896+1G>T chr3 37064179 37064180 MMR_MLH1_00677 + NM_000249.2(MLH1):c.1896+2T>C chr3 37064213 37064214 MMR_MLH1_00678 + NM_000249.2(MLH1):c.1896+36T>C chr3 37065009 37065010 MMR_MLH1_00680 + NM_000249.2(MLH1):c.1897-2A>G chr3 37065010 37065011 MMR_MLH1_00679 + NM_000249.2(MLH1):c.1897-1G>A chr3 37056774 37056775 MMR_MLH1_00689 + NM_000249.2(MLH1):c.1653C>T chr3 37065008 37065019 MMR_MLH1_00696 + NM_000249.2(MLH1):c.1897-3_1904delCAGGAAGGGAA chr3 37065011 37065104 MMR_MLH1_00692 + NM_000249.2(MLH1):c.1897-?_1989+?del chr3 37065011 37065012 MMR_MLH1_00697 + NM_000249.2(MLH1):c.1897delG chr3 37065014 37065015 MMR_MLH1_00701 + NM_000249.2(MLH1):c.1900G>A chr3 37065018 37065019 MMR_MLH1_00691 + NM_000249.2(MLH1):c.1904A>G chr3 37065019 37065020 MMR_MLH1_00690 + NM_000249.2(MLH1):c.1905C>G chr3 37065021 37065022 MMR_MLH1_00706 + NM_000249.2(MLH1):c.1907T>C chr3 37065026 37065027 MMR_MLH1_00702 + NM_000249.2(MLH1):c.1912G>T chr3 37065030 37065031 MMR_MLH1_00708 + NM_000249.2(MLH1):c.1916dupT chr3 37065030 37065031 MMR_MLH1_00709 + NM_000249.2(MLH1):c.1916T>G chr3 37065031 37065032 MMR_MLH1_00707 + NM_000249.2(MLH1):c.1917A>G chr3 37065032 37065033 MMR_MLH1_00715 + NM_000249.2(MLH1):c.1918C>A chr3 37065032 37065033 MMR_MLH1_00714 + NM_000249.2(MLH1):c.1918C>T chr3 37065038 37065040 MMR_MLH1_00710 + NM_000249.2(MLH1):c.1924_1925delCT chr3 37065051 37065052 MMR_MLH1_00722 + NM_000249.2(MLH1):c.1937A>G chr3 37065053 37065054 MMR_MLH1_00723 + NM_000249.2(MLH1):c.1939G>A chr3 37065056 37065057 MMR_MLH1_00717 + NM_000249.2(MLH1):c.1942C>T chr3 37065057 37065058 MMR_MLH1_00716 + NM_000249.2(MLH1):c.1943C>T chr3 37065060 37065061 MMR_MLH1_00719 + NM_000249.2(MLH1):c.1946delC chr3 37065060 37065063 MMR_MLH1_00718 + NM_000249.2(MLH1):c.1946_1948delCTT chr3 37065067 37065071 MMR_MLH1_00698 + NM_000249.2(MLH1):c.1953_1956delGGGA chr3 37065072 37065073 MMR_MLH1_00711 + NM_000249.2(MLH1):c.1958T>G chr3 37065073 37065074 MMR_MLH1_00712 + NM_000249.2(MLH1):c.1959G>T chr3 37065075 37065076 MMR_MLH1_00720 + NM_000249.2(MLH1):c.1961C>T chr3 37065077 37065078 MMR_MLH1_00704 + NM_000249.2(MLH1):c.1963A>G chr3 37065078 37065079 MMR_MLH1_00703 + NM_000249.2(MLH1):c.1964T>C chr3 37065085 37065086 MMR_MLH1_00705 + NM_000249.2(MLH1):c.1971delT chr3 37065089 37065090 MMR_MLH1_00688 + NM_000249.2(MLH1):c.1975C>T chr3 37065089 37065091 MMR_MLH1_00694 + NM_000249.2(MLH1):c.1975_1976delCG chr3 37065090 37065091 MMR_MLH1_00684 + NM_000249.2(MLH1):c.1976G>A chr3 37065090 37065091 MMR_MLH1_00681 + NM_000249.2(MLH1):c.1976G>C chr3 37065090 37065091 MMR_MLH1_00685 + NM_000249.2(MLH1):c.1976G>T chr3 37065090 37065092 MMR_MLH1_00687 + NM_000249.2(MLH1):c.1976_1977delGA chr3 37065098 37065099 MMR_MLH1_00721 + NM_000249.2(MLH1):c.1984A>C chr3 37065100 37065105 MMR_MLH1_00682 + NM_000249.2(MLH1):c.1986_1989+1delinsC chr3 37065102 37065103 MMR_MLH1_00700 + NM_000249.2(MLH1):c.1988A>G chr3 37065103 37065104 MMR_MLH1_00699 + NM_000249.2(MLH1):c.1989G>A chr3 37065103 37065104 MMR_MLH1_00683 + NM_000249.2(MLH1):c.1989G>T chr3 37065104 37065105 MMR_MLH1_00727 + NM_000249.2(MLH1):c.1989+1G>A chr3 37065104 37065105 MMR_MLH1_00724 + NM_000249.2(MLH1):c.1989+1G>T chr3 37065108 37065109 MMR_MLH1_00725 + NM_000249.2(MLH1):c.1989+5G>C chr3 37065110 37065111 MMR_MLH1_00730 + NM_000249.2(MLH1):c.1989+7dupG chr3 37065277 37065278 MMR_MLH1_00731 + NM_000249.2(MLH1):c.1990-121C>T chr3 37065382 37065397 MMR_MLH1_00726 + NM_000249.2(MLH1):c.1990-16_1990-2del chr3 37065395 37065396 MMR_MLH1_00736 + NM_000249.2(MLH1):c.1990-3C>G chr3 37065396 37065397 MMR_MLH1_00735 + NM_000249.2(MLH1):c.1990-2A>G chr3 37065397 37065398 MMR_MLH1_00733 + NM_000249.2(MLH1):c.1990-1G>A chr3 37065397 37065398 MMR_MLH1_00734 + NM_000249.2(MLH1):c.1990-1G>T chr3 37065398 37067148 MMR_MLH1_00763 + NM_000249.2(MLH1):c.1990-?_2271+?del chr3 37065406 37065407 MMR_MLH1_00762 + NM_000249.2(MLH1):c.1998G>A chr3 37065408 37065409 MMR_MLH1_00742 + NM_000249.2(MLH1):c.2000A>G chr3 37065408 37065409 MMR_MLH1_00741 + NM_000249.2(MLH1):c.2000dupA chr3 37065409 37065410 MMR_MLH1_00740 + NM_000249.2(MLH1):c.2001C>T chr3 37065410 37065411 MMR_MLH1_00752 + NM_000249.2(MLH1):c.2002G>A chr3 37065414 37065419 MMR_MLH1_00753 + NM_000249.2(MLH1):c.2006_2010delAAAAG chr3 37065417 37065418 MMR_MLH1_00758 + NM_000249.2(MLH1):c.2009delA chr3 37065419 37065420 MMR_MLH1_00754 + NM_000249.2(MLH1):c.2011G>T chr3 37065435 37065436 MMR_MLH1_00757 + NM_000249.2(MLH1):c.2027T>G chr3 37065446 37065447 MMR_MLH1_00745 + NM_000249.2(MLH1):c.2038T>G chr3 37065448 37065449 MMR_MLH1_00746 + NM_000249.2(MLH1):c.2040C>A chr3 37065448 37065449 MMR_MLH1_00744 + NM_000249.2(MLH1):c.2040C>T chr3 37065449 37065450 MMR_MLH1_00737 + NM_000249.2(MLH1):c.2041G>A chr3 37065450 37065451 MMR_MLH1_00738 + NM_000249.2(MLH1):c.2042C>T chr3 37065467 37065468 MMR_MLH1_00739 + NM_000249.2(MLH1):c.2059C>T chr3 37065474 37065475 MMR_MLH1_00749 + NM_000249.2(MLH1):c.2066A>G chr3 37065475 37065482 MMR_MLH1_00748 + NM_000249.2(MLH1):c.2067_2073delGTACATA chr3 37065484 37065486 MMR_MLH1_00755 + NM_000249.2(MLH1):c.2076_2077delTG chr3 37065486 37067049 MMR_MLH1_00747 + NM_000249.2(MLH1):c.2078_2172del chr3 37065489 37065491 MMR_MLH1_00756 + NM_000249.2(MLH1):c.2081_2082insT chr3 37065492 37065493 MMR_MLH1_00760 + NM_000249.2(MLH1):c.2084C>A chr3 37065500 37065502 MMR_MLH1_00761 + NM_000249.2(MLH1):c.2092_2093delTC chr3 37065507 37065511 MMR_MLH1_00750 + NM_000249.2(MLH1):c.2099_2102delAGCA chr3 37065509 37065510 MMR_MLH1_00751 + NM_000249.2(MLH1):c.2101C>A chr3 37065509 37065510 MMR_MLH1_00821 + NM_000249.2(MLH1):c.2101C>T chr3 37065511 37065512 MMR_MLH1_00764 + NM_000249.2(MLH1):c.2103G>C chr3 37067086 37067087 MMR_MLH1_00743 + NM_000249.2(MLH1):c.2210A>T chr3 37065512 37065513 MMR_MLH1_00765 + NM_000249.2(MLH1):c.2103+1G>A chr3 37066958 37066959 MMR_MLH1_00768 + NM_000249.2(MLH1):c.2104-22T>G chr3 37066969 37066970 MMR_MLH1_00767 + NM_000249.2(MLH1):c.2104-11G>A chr3 37066973 37066974 MMR_MLH1_00771 + NM_000249.2(MLH1):c.2104-7T>G chr3 37066978 37066979 MMR_MLH1_00769 + NM_000249.2(MLH1):c.2104-2A>G chr3 37066978 37066979 MMR_MLH1_00770 + NM_000249.2(MLH1):c.2104-2A>T chr3 37066980 37067148 MMR_MLH1_00796 + NM_000249.2(MLH1):c.2104-?_2271+?del chr3 37066980 37067148 MMR_MLH1_00823 + NM_000249.2(MLH1):c.2104-?_2271+?dup chr3 37066980 37066982 MMR_MLH1_00233 + NM_000249.2(MLH1):c.2104_2105delAG chr3 37067011 37067012 MMR_MLH1_00799 + NM_000249.2(MLH1):c.2135G>A chr3 37067012 37067013 MMR_MLH1_00800 + NM_000249.2(MLH1):c.2136G>A chr3 37067017 37067018 MMR_MLH1_00801 + NM_000249.2(MLH1):c.2141G>A chr3 37067018 37067019 MMR_MLH1_00802 + NM_000249.2(MLH1):c.2142G>A chr3 37067022 37067023 MMR_MLH1_00805 + NM_000249.2(MLH1):c.2146G>A chr3 37067028 37067029 MMR_MLH1_00780 + NM_000249.2(MLH1):c.2152C>T chr3 37067030 37067032 MMR_MLH1_00785 + NM_000249.2(MLH1):c.2154_2155delCA chr3 37067030 37067032 MMR_MLH1_00786 + NM_000249.2(MLH1):c.2154_2155dupCA chr3 37067031 37067033 MMR_MLH1_00784 + NM_000249.2(MLH1):c.2155_2156insATGTGTTCCACA chr3 37067037 37067043 MMR_MLH1_00772 + NM_000249.2(MLH1):c.2161_2166dupTATAAA chr3 37067039 37067040 MMR_MLH1_00803 + NM_000249.2(MLH1):c.2163T>A chr3 37067046 37067047 MMR_MLH1_00787 + NM_000249.2(MLH1):c.2170T>A chr3 37067049 37067050 MMR_MLH1_00773 + NM_000249.2(MLH1):c.2173C>T chr3 37067055 37067057 MMR_MLH1_00782 + NM_000249.2(MLH1):c.2179_2180delCA chr3 37067055 37067059 MMR_MLH1_00781 + NM_000249.2(MLH1):c.2179_2182delCACA chr3 37067061 37067062 MMR_MLH1_00788 + NM_000249.2(MLH1):c.2185C>G chr3 37067066 37067068 MMR_MLH1_00795 + NM_000249.2(MLH1):c.2190_2191insAACA chr3 37067070 37067071 MMR_MLH1_00792 + NM_000249.2(MLH1):c.2194A>T chr3 37067071 37067075 MMR_MLH1_00783 + NM_000249.2(MLH1):c.2195_2198dupAACA chr3 37067097 37067101 MMR_MLH1_00814 + NM_000249.2(MLH1):c.2221_2224delCTGCins30 chr3 37067099 37067110 MMR_MLH1_00778 + NM_000249.2(MLH1):c.2223_2233delGCAGCTTGCTA chr3 37067100 37067101 MMR_MLH1_00779 + NM_000249.2(MLH1):c.2224delC chr3 37067122 37067123 MMR_MLH1_00789 + NM_000249.2(MLH1):c.2246T>C chr3 37067126 37067127 MMR_MLH1_00804 + NM_000249.2(MLH1):c.2250C>G chr3 37067128 37067129 MMR_MLH1_00793 + NM_000249.2(MLH1):c.2252A>G chr3 37067128 37067130 MMR_MLH1_00794 + NM_000249.2(MLH1):c.2252_2253delAA chr3 37067128 37067130 MMR_MLH1_00806 + NM_000249.2(MLH1):c.2252_2253dupAA chr3 37067138 37067139 MMR_MLH1_00815 + NM_000249.2(MLH1):c.2262delG chr3 37067139 37067140 MMR_MLH1_00775 + NM_000249.2(MLH1):c.2263A>T chr3 37067141 37067142 MMR_MLH1_00774 + NM_000249.2(MLH1):c.2265G>C chr3 37067145 37067146 MMR_MLH1_00807 + NM_000249.2(MLH1):c.2269dupT chr3 37067147 37067148 MMR_MLH1_00809 + NM_000249.2(MLH1):c.2271A>T chr3 37067179 37067182 MMR_MLH1_00813 + NM_000249.2(MLH1):c.*32_*34delCTT chr3 37067284 37067285 MMR_MLH1_00811 + NM_000249.2(MLH1):c.*137A>T chr2 47541548 47541549 MMR_MSH2_00065 + NM_000251.1(MSH2):c.-433T>G chr2 47541863 47541864 MMR_MSH2_00064 + NM_000251.1(MSH2):c.-118T>C chr2 47541902 47541904 MMR_MSH2_00066 + NM_000251.1(MSH2):c.-78_-79delGT chr2 47541981 47542192 MMR_MSH2_00040 + NM_000251.1(MSH2):c.1-?_211+?del chr2 47541981 47547345 MMR_MSH2_00041 + NM_000251.1(MSH2):c.1-?_366+?del chr2 47541981 47549162 MMR_MSH2_00032 + NM_000251.1(MSH2):c.1-?_645+?del chr2 47541981 47549162 MMR_MSH2_00033 + NM_000251.1(MSH2):c.1-?_645+?dup chr2 47541981 47551350 MMR_MSH2_00034 + NM_000251.1(MSH2):c.1-?_792+?del chr2 47541981 47553208 MMR_MSH2_00035 + NM_000251.1(MSH2):c.1-?_942+?del chr2 47541981 47555219 MMR_MSH2_00031 + NM_000251.1(MSH2):c.1-?_1076+?del chr2 47541981 47568731 MMR_MSH2_00038 + NM_000251.1(MSH2):c.1-?_1276+?del chr2 47541981 47584447 MMR_MSH2_00036 + NM_000251.1(MSH2):c.1-?_1386+?del chr2 47541981 47605598 MMR_MSH2_00042 + NM_000251.1(MSH2):c.1-?_1661+?del chr2 47541981 47609852 MMR_MSH2_00039 + NM_000251.1(MSH2):c.1-?_1759+?del chr2 47541981 47617215 MMR_MSH2_00037 + NM_000251.1(MSH2):c.1-?_2364+?del chr2 47541981 47541982 MMR_MSH2_00029 + NM_000251.1(MSH2):c.1A>C chr2 47541981 47541982 MMR_MSH2_00030 + NM_000251.1(MSH2):c.1A>T chr2 47541984 47541985 MMR_MSH2_00005 + NM_000251.1(MSH2):c.4G>A chr2 47541984 47542002 MMR_MSH2_00004 + NM_000251.1(MSH2):c.4_21dup chr2 47541994 47541995 MMR_MSH2_00047 + NM_000251.1(MSH2):c.14C>A chr2 47542001 47542002 MMR_MSH2_00054 + NM_000251.1(MSH2):c.21dupG chr2 47542003 47542004 MMR_MSH2_00055 + NM_000251.1(MSH2):c.23C>T chr2 47542008 47542009 MMR_MSH2_00013 + NM_000251.1(MSH2):c.28C>T chr2 47542009 47542010 MMR_MSH2_00027 + NM_000251.1(MSH2):c.29dupA chr2 47542014 47542015 MMR_MSH2_00016 + NM_000251.1(MSH2):c.34dupG chr2 47542018 47542019 MMR_MSH2_00049 + NM_000251.1(MSH2):c.38G>T chr2 47542029 47542030 MMR_MSH2_00059 + NM_000251.1(MSH2):c.49G>T chr2 47542034 47542035 MMR_MSH2_00021 + NM_000251.1(MSH2):c.54C>G chr2 47542061 47542062 MMR_MSH2_00017 + NM_000251.1(MSH2):c.81delG chr2 47542062 47542063 MMR_MSH2_00018 + NM_000251.1(MSH2):c.82G>T chr2 47542069 47549159 MMR_MSH2_00068 + NM_000251.1(MSH2):c.89_642del chr2 47542074 47542084 MMR_MSH2_00050 + NM_000251.1(MSH2):c.94_103delACCACAGTGC chr2 47542077 47542078 MMR_MSH2_00052 + NM_000251.1(MSH2):c.97A>C chr2 47542077 47542078 MMR_MSH2_00051 + NM_000251.1(MSH2):c.97A>G chr2 47542081 47542082 MMR_MSH2_00060 + NM_000251.1(MSH2):c.101T>A chr2 47542090 47542091 MMR_MSH2_00045 + NM_000251.1(MSH2):c.110delT chr2 47542097 47542098 MMR_MSH2_00008 + NM_000251.1(MSH2):c.117G>A chr2 47542098 47542099 MMR_MSH2_00024 + NM_000251.1(MSH2):c.118G>A chr2 47542099 47542100 MMR_MSH2_00023 + NM_000251.1(MSH2):c.119delG chr2 47542108 47542109 MMR_MSH2_00056 + NM_000251.1(MSH2):c.128A>G chr2 47542109 47542110 MMR_MSH2_00057 + NM_000251.1(MSH2):c.129T>A chr2 47542109 47542110 MMR_MSH2_00058 + NM_000251.1(MSH2):c.129T>G chr2 47542114 47542115 MMR_MSH2_00007 + NM_000251.1(MSH2):c.134C>T chr2 47542114 47542143 MMR_MSH2_00006 + NM_000251.1(MSH2):c.134_162delCGCACGGCGAGGACGCGCTGCTGGCCGCC chr2 47542116 47542145 MMR_MSH2_00025 + NM_000251.1(MSH2):c.136_164delCACGGCGAGGACGCGCTGCTGGCCGCCCG chr2 47542118 47542119 MMR_MSH2_00026 + NM_000251.1(MSH2):c.138C>G chr2 47542122 47542123 MMR_MSH2_00019 + NM_000251.1(MSH2):c.142G>T chr2 47542125 47542126 MMR_MSH2_00011 + NM_000251.1(MSH2):c.145delG chr2 47542125 47542127 MMR_MSH2_00010 + NM_000251.1(MSH2):c.145_146delGA chr2 47542126 47542127 MMR_MSH2_00012 + NM_000251.1(MSH2):c.146A>T chr2 47542134 47542136 MMR_MSH2_00028 + NM_000251.1(MSH2):c.154_155insG chr2 47542143 47542144 MMR_MSH2_00009 + NM_000251.1(MSH2):c.163delC chr2 47542146 47542147 MMR_MSH2_00020 + NM_000251.1(MSH2):c.166delG chr2 47542161 47542162 MMR_MSH2_00015 + NM_000251.1(MSH2):c.181C>T chr2 47542166 47542168 MMR_MSH2_00063 + NM_000251.1(MSH2):c.186_187dupGG chr2 47542167 47542168 MMR_MSH2_00061 + NM_000251.1(MSH2):c.187delG chr2 47542167 47542168 MMR_MSH2_00062 + NM_000251.1(MSH2):c.187dupG chr2 47542184 47542185 MMR_MSH2_00048 + NM_000251.1(MSH2):c.204delG chr2 47542199 47542200 MMR_MSH2_00069 + NM_000251.1(MSH2):c.211+8C>G chr2 47542200 47542201 MMR_MSH2_00070 + NM_000251.1(MSH2):c.211+9C>G chr2 47547188 47547189 MMR_MSH2_00072 + NM_000251.1(MSH2):c.212-2A>G chr2 47547189 47547190 MMR_MSH2_00071 + NM_000251.1(MSH2):c.212-1G>A chr2 47547190 47547345 MMR_MSH2_00076 + NM_000251.1(MSH2):c.212-?_366+?del chr2 47547190 47549162 MMR_MSH2_00087 + NM_000251.1(MSH2):c.212-?_645+?del chr2 47547190 47555219 MMR_MSH2_00086 + NM_000251.1(MSH2):c.212-?_1076+?del chr2 47547190 47568731 MMR_MSH2_00088 + NM_000251.1(MSH2):c.212-?_1276+?del chr2 47547190 47584447 MMR_MSH2_00075 + NM_000251.1(MSH2):c.212-?_1386+?del chr2 47547197 47547198 MMR_MSH2_00097 + NM_000251.1(MSH2):c.219G>A chr2 47547201 47547203 MMR_MSH2_00089 + NM_000251.1(MSH2):c.223_224delCT chr2 47547204 47547205 MMR_MSH2_00081 + NM_000251.1(MSH2):c.226C>T chr2 47547207 47547209 MMR_MSH2_00100 + NM_000251.1(MSH2):c.229_230delAG chr2 47547221 47547252 MMR_MSH2_00098 + NM_000251.1(MSH2):c.243_273delins217 chr2 47547225 47547226 MMR_MSH2_00099 + NM_000251.1(MSH2):c.247dupA chr2 47547233 47547234 MMR_MSH2_00085 + NM_000251.1(MSH2):c.255dupT chr2 47547246 47547268 MMR_MSH2_00082 + NM_000251.1(MSH2):c.268_289dup chr2 47547255 47547256 MMR_MSH2_00091 + NM_000251.1(MSH2):c.277C>T chr2 47547255 47547258 MMR_MSH2_00090 + NM_000251.1(MSH2):c.277_279delCTT chr2 47547256 47547257 MMR_MSH2_00092 + NM_000251.1(MSH2):c.278T>C chr2 47547256 47547258 MMR_MSH2_00093 + NM_000251.1(MSH2):c.278_279delTT chr2 47547257 47547260 MMR_MSH2_00094 + NM_000251.1(MSH2):c.279_281delTCT chr2 47547265 47547266 MMR_MSH2_00077 + NM_000251.1(MSH2):c.287G>A chr2 47547267 47547268 MMR_MSH2_00083 + NM_000251.1(MSH2):c.289C>T chr2 47547271 47547272 MMR_MSH2_00103 + NM_000251.1(MSH2):c.293A>G chr2 47547273 47547274 MMR_MSH2_00078 + NM_000251.1(MSH2):c.295A>C chr2 47547274 47547275 MMR_MSH2_00079 + NM_000251.1(MSH2):c.296delG chr2 47547275 47547281 MMR_MSH2_00073 + NM_000251.1(MSH2):c.297_302delAGTTGA chr2 47547279 47547280 MMR_MSH2_00084 + NM_000251.1(MSH2):c.301G>T chr2 47547286 47547287 MMR_MSH2_00101 + NM_000251.1(MSH2):c.308A>G chr2 47547305 47547306 MMR_MSH2_00105 + NM_000251.1(MSH2):c.327T>C chr2 47547307 47547308 MMR_MSH2_00095 + NM_000251.1(MSH2):c.329A>G chr2 47547317 47547318 MMR_MSH2_00096 + NM_000251.1(MSH2):c.339G>A chr2 47547322 47547323 MMR_MSH2_00074 + NM_000251.1(MSH2):c.344delA chr2 47547325 47547329 MMR_MSH2_00080 + NM_000251.1(MSH2):c.347_350delATTG chr2 47547341 47547342 MMR_MSH2_00102 + NM_000251.1(MSH2):c.363T>G chr2 47547345 47547346 MMR_MSH2_00107 + NM_000251.1(MSH2):c.366+1G>T chr2 47547366 47547367 MMR_MSH2_00108 + NM_000251.1(MSH2):c.366+22delT chr2 47547387 47547388 MMR_MSH2_00109 + NM_000251.1(MSH2):c.366+43G>A chr2 47547397 47547398 MMR_MSH2_00110 + NM_000251.1(MSH2):c.366+53A>G chr2 47548867 47548868 MMR_MSH2_00111 + NM_000251.1(MSH2):c.367-16delT chr2 47548882 47548883 MMR_MSH2_00106 + NM_000251.1(MSH2):c.367-1G>A chr2 47548431 47550482 MMR_MSH2_00116 + NM_000251.1(MSH2):c.367-452_646-722del2051 chr2 47548883 47549162 MMR_MSH2_00115 + NM_000251.1(MSH2):c.367-?_645+?del chr2 47548883 47553208 MMR_MSH2_00117 + NM_000251.1(MSH2):c.367-?_942+?del chr2 47548883 47555219 MMR_MSH2_00114 + NM_000251.1(MSH2):c.367-?_1076+?del chr2 47548883 47568731 MMR_MSH2_00120 + NM_000251.1(MSH2):c.367-?_1276+?del chr2 47548883 47584447 MMR_MSH2_00118 + NM_000251.1(MSH2):c.367-?_1386+?del chr2 47548883 47609852 MMR_MSH2_00119 + NM_000251.1(MSH2):c.367-?_1759+?del chr2 47548884 47548885 MMR_MSH2_00121 + NM_000251.1(MSH2):c.368delC chr2 47548896 47548897 MMR_MSH2_00126 + NM_000251.1(MSH2):c.380A>G chr2 47548896 47548898 MMR_MSH2_00127 + NM_000251.1(MSH2):c.380_381delAT chr2 47548903 47548905 MMR_MSH2_00135 + NM_000251.1(MSH2):c.387_388delTC chr2 47548904 47548906 MMR_MSH2_00136 + NM_000251.1(MSH2):c.388_389delCA chr2 47548915 47548916 MMR_MSH2_00129 + NM_000251.1(MSH2):c.399C>T chr2 47548915 47548916 MMR_MSH2_00130 + NM_000251.1(MSH2):c.399delC chr2 47548924 47548925 MMR_MSH2_00174 + NM_000251.1(MSH2):c.408delT chr2 47548932 47548933 MMR_MSH2_00128 + NM_000251.1(MSH2):c.416delA chr2 47548941 47548942 MMR_MSH2_00177 + NM_000251.1(MSH2):c.425C>G chr2 47548951 47548952 MMR_MSH2_00159 + NM_000251.1(MSH2):c.435T>G chr2 47548970 47548971 MMR_MSH2_00173 + NM_000251.1(MSH2):c.454delA chr2 47548975 47548976 MMR_MSH2_00178 + NM_000251.1(MSH2):c.459C>T chr2 47548987 47548988 MMR_MSH2_00150 + NM_000251.1(MSH2):c.471C>A chr2 47548988 47548989 MMR_MSH2_00137 + NM_000251.1(MSH2):c.472C>T chr2 47548994 47548995 MMR_MSH2_00138 + NM_000251.1(MSH2):c.478C>T chr2 47548998 47548999 MMR_MSH2_00181 + NM_000251.1(MSH2):c.482T>A chr2 47549000 47549001 MMR_MSH2_00152 + NM_000251.1(MSH2):c.484G>A chr2 47549001 47549002 MMR_MSH2_00151 + NM_000251.1(MSH2):c.485G>C chr2 47549004 47549005 MMR_MSH2_00182 + NM_000251.1(MSH2):c.488T>A chr2 47549006 47549007 MMR_MSH2_00153 + NM_000251.1(MSH2):c.490G>A chr2 47549006 47549007 MMR_MSH2_00154 + NM_000251.1(MSH2):c.490G>T chr2 47549011 47549012 MMR_MSH2_00180 + NM_000251.1(MSH2):c.495T>G chr2 47549015 47549016 MMR_MSH2_00131 + NM_000251.1(MSH2):c.499G>C chr2 47549021 47549022 MMR_MSH2_00161 + NM_000251.1(MSH2):c.505A>G chr2 47549022 47549026 MMR_MSH2_00160 + NM_000251.1(MSH2):c.506_509delTACA chr2 47549024 47549025 MMR_MSH2_00139 + NM_000251.1(MSH2):c.508C>T chr2 47549027 47549100 MMR_MSH2_00155 + NM_000251.1(MSH2):c.511_583dup chr2 47549028 47549029 MMR_MSH2_00125 + NM_000251.1(MSH2):c.512G>A chr2 47549029 47549030 MMR_MSH2_00124 + NM_000251.1(MSH2):c.513delG chr2 47549033 47549045 MMR_MSH2_00162 + NM_000251.1(MSH2):c.517_528delCTAGGACTGTGTinsA chr2 47549034 47549035 MMR_MSH2_00164 + NM_000251.1(MSH2):c.518delT chr2 47549034 47549035 MMR_MSH2_00165 + NM_000251.1(MSH2):c.518T>C chr2 47549034 47549035 MMR_MSH2_00163 + NM_000251.1(MSH2):c.518T>G chr2 47549039 47549081 MMR_MSH2_00166 + NM_000251.1(MSH2):c.523_564del chr2 47549040 47549041 MMR_MSH2_00167 + NM_000251.1(MSH2):c.524T>C chr2 47549045 47549046 MMR_MSH2_00145 + NM_000251.1(MSH2):c.529G>T chr2 47549046 47549048 MMR_MSH2_00144 + NM_000251.1(MSH2):c.530_531delAA chr2 47549062 47549081 MMR_MSH2_00146 + NM_000251.1(MSH2):c.546_564dupTCAGTTCTCCAATCTTGAG chr2 47549063 47549064 MMR_MSH2_00140 + NM_000251.1(MSH2):c.547C>T chr2 47549076 47549077 MMR_MSH2_00169 + NM_000251.1(MSH2):c.560T>C chr2 47549076 47549077 MMR_MSH2_00168 + NM_000251.1(MSH2):c.560T>G chr2 47549077 47549086 MMR_MSH2_00113 + NM_000251.1(MSH2):c.561_569delTGAGGCTCT chr2 47549081 47549082 MMR_MSH2_00122 + NM_000251.1(MSH2):c.565G>T chr2 47549085 47549087 MMR_MSH2_00170 + NM_000251.1(MSH2):c.569_570delinsCT chr2 47549089 47549090 MMR_MSH2_00171 + NM_000251.1(MSH2):c.573C>T chr2 47549093 47549094 MMR_MSH2_00141 + NM_000251.1(MSH2):c.577C>T chr2 47549099 47549101 MMR_MSH2_00183 + NM_000251.1(MSH2):c.583_584ins73 chr2 47549103 47549104 MMR_MSH2_00175 + NM_000251.1(MSH2):c.587delC chr2 47549108 47549109 MMR_MSH2_00148 + NM_000251.1(MSH2):c.592dupG chr2 47549109 47549110 MMR_MSH2_00147 + NM_000251.1(MSH2):c.593A>G chr2 47549111 47549112 MMR_MSH2_00133 + NM_000251.1(MSH2):c.595T>C chr2 47549112 47549113 MMR_MSH2_00134 + NM_000251.1(MSH2):c.596G>A chr2 47549122 47549123 MMR_MSH2_00176 + NM_000251.1(MSH2):c.606C>T chr2 47549126 47549127 MMR_MSH2_00157 + NM_000251.1(MSH2):c.610G>T chr2 47549129 47549130 MMR_MSH2_00149 + NM_000251.1(MSH2):c.613G>T chr2 47549132 47549133 MMR_MSH2_00179 + NM_000251.1(MSH2):c.616dupA chr2 47549135 47549136 MMR_MSH2_00123 + NM_000251.1(MSH2):c.619G>T chr2 47549139 47549140 MMR_MSH2_00158 + NM_000251.1(MSH2):c.623delG chr2 47549154 47549156 MMR_MSH2_00172 + NM_000251.1(MSH2):c.638_639delTG chr2 47549158 47549162 MMR_MSH2_00142 + NM_000251.1(MSH2):c.642_645delACAG chr2 47549159 47549160 MMR_MSH2_00143 + NM_000251.1(MSH2):c.643C>T chr2 47549162 47549163 MMR_MSH2_00185 + NM_000251.1(MSH2):c.645+1G>A chr2 47549162 47549163 MMR_MSH2_00184 + NM_000251.1(MSH2):c.645+1G>T chr2 47551200 47551201 MMR_MSH2_00187 + NM_000251.1(MSH2):c.646-3T>G chr2 47551200 47551212 MMR_MSH2_00186 + NM_000251.1(MSH2):c.646-3_654delTAGATAATTCAA chr2 47551203 47551350 MMR_MSH2_00200 + NM_000251.1(MSH2):c.646-?_792+?del chr2 47551203 47555219 MMR_MSH2_00189 + NM_000251.1(MSH2):c.646-?_1076+?del chr2 47551203 47555219 MMR_MSH2_00208 + NM_000251.1(MSH2):c.646-?_1076+?dup chr2 47551203 47568731 MMR_MSH2_00202 + NM_000251.1(MSH2):c.646-?_1276+?del chr2 47551203 47621736 MMR_MSH2_00203 + NM_000251.1(MSH2):c.646-?_2802+?del chr2 47551203 47551204 MMR_MSH2_00204 + NM_000251.1(MSH2):c.646A>G chr2 47551207 47551212 MMR_MSH2_00205 + NM_000251.1(MSH2):c.650_654delTTCAA chr2 47551215 47551216 MMR_MSH2_00198 + NM_000251.1(MSH2):c.658G>T chr2 47551244 47551245 MMR_MSH2_00191 + NM_000251.1(MSH2):c.687delA chr2 47551244 47551245 MMR_MSH2_00190 + NM_000251.1(MSH2):c.687dupA chr2 47551253 47551255 MMR_MSH2_00219 + NM_000251.1(MSH2):c.696_697delTT chr2 47551261 47551263 MMR_MSH2_00210 + NM_000251.1(MSH2):c.704_705delAA chr2 47551262 47551263 MMR_MSH2_00194 + NM_000251.1(MSH2):c.705delA chr2 47551266 47551267 MMR_MSH2_00207 + NM_000251.1(MSH2):c.709A>G chr2 47551268 47551272 MMR_MSH2_00206 + NM_000251.1(MSH2):c.711_714delTTAT chr2 47551272 47551273 MMR_MSH2_00196 + NM_000251.1(MSH2):c.715C>T chr2 47551274 47551279 MMR_MSH2_00195 + NM_000251.1(MSH2):c.717_721delGGACCinsTTA chr2 47551285 47551286 MMR_MSH2_00192 + NM_000251.1(MSH2):c.728G>A chr2 47551292 47551293 MMR_MSH2_00212 + NM_000251.1(MSH2):c.735dupG chr2 47551293 47551294 MMR_MSH2_00211 + NM_000251.1(MSH2):c.736A>C chr2 47551303 47551304 MMR_MSH2_00213 + NM_000251.1(MSH2):c.746delA chr2 47551311 47551312 MMR_MSH2_00197 + NM_000251.1(MSH2):c.754C>T chr2 47551316 47551317 MMR_MSH2_00215 + NM_000251.1(MSH2):c.759delG chr2 47551316 47551320 MMR_MSH2_00214 + NM_000251.1(MSH2):c.759_762delGAAT chr2 47551320 47551324 MMR_MSH2_00220 + NM_000251.1(MSH2):c.763_766delAGTGinsTT chr2 47551339 47551340 MMR_MSH2_00216 + NM_000251.1(MSH2):c.782delT chr2 47551339 47551340 MMR_MSH2_00217 + NM_000251.1(MSH2):c.782T>C chr2 47551345 47551347 MMR_MSH2_00193 + NM_000251.1(MSH2):c.788_789delAT chr2 47551349 47584447 MMR_MSH2_00201 + NM_000251.1(MSH2):c.792-?_1386+?del chr2 47551350 47551351 MMR_MSH2_00224 + NM_000251.1(MSH2):c.792+1G>A chr2 47551354 47551355 MMR_MSH2_00225 + NM_000251.1(MSH2):c.792+5A>G chr2 47553029 47553030 MMR_MSH2_00226 + NM_000251.1(MSH2):c.793-29A>T chr2 47553056 47553057 MMR_MSH2_00223 + NM_000251.1(MSH2):c.793-2A>C chr2 47553199 47553200 MMR_MSH2_00244 + NM_000251.1(MSH2):c.934delC chr2 47553052 47555536 MMR_MSH2_00254 + NM_000251.1(MSH2):c.793-6_943+450del chr2 47553058 47553208 MMR_MSH2_00255 + NM_000251.1(MSH2):c.793-?_942+?del chr2 47553058 47555219 MMR_MSH2_00253 + NM_000251.1(MSH2):c.793-?_1076-?del chr2 47553058 47555219 MMR_MSH2_00745 + NM_000251.1(MSH2):c.793-?_1076-?dup chr2 47553058 47584447 MMR_MSH2_00257 + NM_000251.1(MSH2):c.793-?_1386+?del chr2 47553060 47553061 MMR_MSH2_00230 + NM_000251.1(MSH2):c.795delT chr2 47553060 47553061 MMR_MSH2_00258 + NM_000251.1(MSH2):c.795T>C chr2 47553071 47553072 MMR_MSH2_00248 + NM_000251.1(MSH2):c.806C>T chr2 47553072 47553073 MMR_MSH2_00237 + NM_000251.1(MSH2):c.807dupA chr2 47553073 47553077 MMR_MSH2_00236 + NM_000251.1(MSH2):c.808_811delCTGT chr2 47553075 47553077 MMR_MSH2_00250 + NM_000251.1(MSH2):c.810_811delGT chr2 47553075 47553079 MMR_MSH2_00256 + NM_000251.1(MSH2):c.810_813delGTCT chr2 47553080 47553081 MMR_MSH2_00227 + NM_000251.1(MSH2):c.815C>T chr2 47553082 47553084 MMR_MSH2_00259 + NM_000251.1(MSH2):c.817_818delinsAA chr2 47553101 47553102 MMR_MSH2_00239 + NM_000251.1(MSH2):c.836delT chr2 47553101 47553104 MMR_MSH2_00238 + NM_000251.1(MSH2):c.836_838delTCT chr2 47553104 47553105 MMR_MSH2_00241 + NM_000251.1(MSH2):c.839dupT chr2 47553105 47553106 MMR_MSH2_00240 + NM_000251.1(MSH2):c.840delA chr2 47553107 47553108 MMR_MSH2_00251 + NM_000251.1(MSH2):c.842C>G chr2 47553112 47553113 MMR_MSH2_00232 + NM_000251.1(MSH2):c.847G>T chr2 47553119 47553120 MMR_MSH2_00231 + NM_000251.1(MSH2):c.854delA chr2 47553124 47553125 MMR_MSH2_00235 + NM_000251.1(MSH2):c.859G>T chr2 47553127 47553128 MMR_MSH2_00233 + NM_000251.1(MSH2):c.862C>T chr2 47553146 47553148 MMR_MSH2_00247 + NM_000251.1(MSH2):c.881_882delTT chr2 47553157 47553158 MMR_MSH2_00234 + NM_000251.1(MSH2):c.892C>T chr2 47553163 47553165 MMR_MSH2_00246 + NM_000251.1(MSH2):c.898_899dupAT chr2 47553166 47553167 MMR_MSH2_00245 + NM_000251.1(MSH2):c.901A>T chr2 47553170 47553171 MMR_MSH2_00242 + NM_000251.1(MSH2):c.905T>A chr2 47553178 47553179 MMR_MSH2_00228 + NM_000251.1(MSH2):c.913G>A chr2 47553180 47553188 MMR_MSH2_00229 + NM_000251.1(MSH2):c.915_922dupAGCAGTCA chr2 47553194 47553195 MMR_MSH2_00243 + NM_000251.1(MSH2):c.929T>C chr2 47553210 47553211 MMR_MSH2_00260 + NM_000251.1(MSH2):c.942+3A>T chr2 47555084 47555085 MMR_MSH2_00261 + NM_000251.1(MSH2):c.943-1G>A chr2 47555084 47555085 MMR_MSH2_00262 + NM_000251.1(MSH2):c.943-1G>C chr2 47555085 47555219 MMR_MSH2_00274 + NM_000251.1(MSH2):c.943-?_1076+?del chr2 47555100 47555101 MMR_MSH2_00285 + NM_000251.1(MSH2):c.958dupA chr2 47555107 47555108 MMR_MSH2_00275 + NM_000251.1(MSH2):c.965G>A chr2 47555110 47555111 MMR_MSH2_00283 + NM_000251.1(MSH2):c.968C>A chr2 47555110 47555111 MMR_MSH2_00282 + NM_000251.1(MSH2):c.968C>G chr2 47555112 47555113 MMR_MSH2_00270 + NM_000251.1(MSH2):c.970C>T chr2 47555112 47555114 MMR_MSH2_00268 + NM_000251.1(MSH2):c.970_971delCA chr2 47555114 47555115 MMR_MSH2_00269 + NM_000251.1(MSH2):c.972G>A chr2 47555114 47555116 MMR_MSH2_00284 + NM_000251.1(MSH2):c.972_973ins184 chr2 47555115 47555116 MMR_MSH2_00277 + NM_000251.1(MSH2):c.973dupT chr2 47555126 47555127 MMR_MSH2_00263 + NM_000251.1(MSH2):c.984C>T chr2 47555131 47555132 MMR_MSH2_00278 + NM_000251.1(MSH2):c.989T>C chr2 47555139 47555140 MMR_MSH2_00266 + NM_000251.1(MSH2):c.997T>C chr2 47555140 47555141 MMR_MSH2_00267 + NM_000251.1(MSH2):c.998G>A chr2 47555146 47555147 MMR_MSH2_00287 + NM_000251.1(MSH2):c.1004C>T chr2 47555146 47555150 MMR_MSH2_00286 + NM_000251.1(MSH2):c.1004_1007delCCCC chr2 47555148 47555149 MMR_MSH2_00281 + NM_000251.1(MSH2):c.1006C>T chr2 47555151 47555152 MMR_MSH2_00271 + NM_000251.1(MSH2):c.1009C>T chr2 47555154 47555155 MMR_MSH2_00276 + NM_000251.1(MSH2):c.1012G>A chr2 47555159 47555161 MMR_MSH2_00273 + NM_000251.1(MSH2):c.1017_1018delAA chr2 47555164 47555165 MMR_MSH2_00279 + NM_000251.1(MSH2):c.1022T>C chr2 47555166 47555167 MMR_MSH2_00290 + NM_000251.1(MSH2):c.1024G>A chr2 47555172 47555173 MMR_MSH2_00272 + NM_000251.1(MSH2):c.1030C>T chr2 47555176 47555177 MMR_MSH2_00288 + NM_000251.1(MSH2):c.1034G>A chr2 47555177 47555178 MMR_MSH2_00289 + NM_000251.1(MSH2):c.1035G>A chr2 47555179 47555181 MMR_MSH2_00280 + NM_000251.1(MSH2):c.1037_1038dupTT chr2 47555218 47555219 MMR_MSH2_00264 + NM_000251.1(MSH2):c.1076G>T chr2 47568531 47568532 MMR_MSH2_00265 + NM_000251.1(MSH2):c.1077A>T chr2 47555219 47555220 MMR_MSH2_00291 + NM_000251.1(MSH2):c.1076+1G>A chr2 47555219 47555220 MMR_MSH2_00292 + NM_000251.1(MSH2):c.1076+1G>T chr2 47555221 47555222 MMR_MSH2_00293 + NM_000251.1(MSH2):c.1076+3A>T chr2 47558618 47558619 MMR_MSH2_00294 + NM_000251.1(MSH2):c.1076+3400C>T chr2 47566494 47566495 MMR_MSH2_00295 + NM_000251.1(MSH2):c.1077-2037G>T chr2 47568496 47568497 MMR_MSH2_00296 + NM_000251.1(MSH2):c.1077-35A>G chr2 47568521 47568522 MMR_MSH2_00297 + NM_000251.1(MSH2):c.1077-10T>C chr2 47568529 47568530 MMR_MSH2_00746 + NM_000251.1(MSH2):c.1077-2A>C chr2 47568529 47568530 MMR_MSH2_00298 + NM_000251.1(MSH2):c.1077-2A>G chr2 47568529 47568530 MMR_MSH2_00299 + NM_000251.1(MSH2):c.1077-2A>T chr2 47568530 47568531 MMR_MSH2_00300 + NM_000251.1(MSH2):c.1077-1G>C chr2 47555218 47621739 MMR_MSH2_00306 + NM_000251.1(MSH2):c.1076-?_2805+?del chr2 47568531 47568731 MMR_MSH2_00332 + NM_000251.1(MSH2):c.1077-?_1276+?del chr2 47568531 47568731 MMR_MSH2_00329 + NM_000251.1(MSH2):c.1077-?_1276+?dup chr2 47568531 47584447 MMR_MSH2_00331 + NM_000251.1(MSH2):c.1077-?_1386+?del chr2 47568531 47584447 MMR_MSH2_00349 + NM_000251.1(MSH2):c.1077-?_1386+?dup chr2 47568531 47605598 MMR_MSH2_00304 + NM_000251.1(MSH2):c.1077-?_1661+?del chr2 47568531 47614060 MMR_MSH2_00333 + NM_000251.1(MSH2):c.1077-?_2005+?del chr2 47568540 47568541 MMR_MSH2_00334 + NM_000251.1(MSH2):c.1086A>T chr2 47568551 47568553 MMR_MSH2_00342 + NM_000251.1(MSH2):c.1097_1098insA chr2 47568562 47568563 MMR_MSH2_00302 + NM_000251.1(MSH2):c.1108delG chr2 47568573 47568574 MMR_MSH2_00308 + NM_000251.1(MSH2):c.1119delG chr2 47568574 47568575 MMR_MSH2_00316 + NM_000251.1(MSH2):c.1120C>T chr2 47568581 47568583 MMR_MSH2_00335 + NM_000251.1(MSH2):c.1127_1128dupTA chr2 47568583 47568584 MMR_MSH2_00317 + NM_000251.1(MSH2):c.1129C>T chr2 47568586 47568589 MMR_MSH2_00326 + NM_000251.1(MSH2):c.1132_1134delAAG chr2 47568593 47568594 MMR_MSH2_00336 + NM_000251.1(MSH2):c.1139delT chr2 47568598 47568599 MMR_MSH2_00309 + NM_000251.1(MSH2):c.1144dupC chr2 47568601 47568602 MMR_MSH2_00310 + NM_000251.1(MSH2):c.1147C>T chr2 47568614 47568615 MMR_MSH2_00337 + NM_000251.1(MSH2):c.1160T>C chr2 47568619 47568620 MMR_MSH2_00311 + NM_000251.1(MSH2):c.1165C>T chr2 47568622 47568623 MMR_MSH2_00338 + NM_000251.1(MSH2):c.1168C>T chr2 47568636 47568637 MMR_MSH2_00318 + NM_000251.1(MSH2):c.1182dupT chr2 47568637 47568638 MMR_MSH2_00319 + NM_000251.1(MSH2):c.1183C>T chr2 47568643 47568644 MMR_MSH2_00747 + NM_000251.1(MSH2):c.1189C>T chr2 47568646 47568647 MMR_MSH2_00303 + NM_000251.1(MSH2):c.1192dupG chr2 47568650 47568652 MMR_MSH2_00314 + NM_000251.1(MSH2):c.1196_1197dupCA chr2 47568657 47568658 MMR_MSH2_00321 + NM_000251.1(MSH2):c.1203dupA chr2 47568658 47568659 MMR_MSH2_00301 + NM_000251.1(MSH2):c.1204C>T chr2 47568658 47568659 MMR_MSH2_00320 + NM_000251.1(MSH2):c.1204delC chr2 47568669 47568670 MMR_MSH2_00344 + NM_000251.1(MSH2):c.1215C>A chr2 47568670 47568671 MMR_MSH2_00313 + NM_000251.1(MSH2):c.1216C>A chr2 47568670 47568671 MMR_MSH2_00312 + NM_000251.1(MSH2):c.1216C>T chr2 47568670 47568674 MMR_MSH2_00340 + NM_000251.1(MSH2):c.1216_1219dupCGAC chr2 47568675 47568676 MMR_MSH2_00339 + NM_000251.1(MSH2):c.1221C>T chr2 47568676 47568677 MMR_MSH2_00346 + NM_000251.1(MSH2):c.1222dupT chr2 47568677 47568678 MMR_MSH2_00345 + NM_000251.1(MSH2):c.1223A>G chr2 47568678 47568679 MMR_MSH2_00347 + NM_000251.1(MSH2):c.1224T>C chr2 47568680 47568682 MMR_MSH2_00323 + NM_000251.1(MSH2):c.1226_1227delAG chr2 47568689 47568722 MMR_MSH2_00315 + NM_000251.1(MSH2):c.1235_1267del chr2 47568697 47568701 MMR_MSH2_00343 + NM_000251.1(MSH2):c.1243_1246delCCTA chr2 47568703 47568704 MMR_MSH2_00348 + NM_000251.1(MSH2):c.1249delG chr2 47568709 47568710 MMR_MSH2_00324 + NM_000251.1(MSH2):c.1255C>A chr2 47568709 47568710 MMR_MSH2_00325 + NM_000251.1(MSH2):c.1255C>T chr2 47568715 47568716 MMR_MSH2_00341 + NM_000251.1(MSH2):c.1261C>A chr2 47568718 47568719 MMR_MSH2_00327 + NM_000251.1(MSH2):c.1264G>T chr2 47568723 47568724 MMR_MSH2_00330 + NM_000251.1(MSH2):c.1269dupA chr2 47568729 47568730 MMR_MSH2_00328 + NM_000251.1(MSH2):c.1275A>G chr2 47568731 47568732 MMR_MSH2_00352 + NM_000251.1(MSH2):c.1276+1G>A chr2 47568731 47568732 MMR_MSH2_00353 + NM_000251.1(MSH2):c.1276+1G>T chr2 47568732 47568733 MMR_MSH2_00350 + NM_000251.1(MSH2):c.1276+2T>A chr2 47568777 47568778 MMR_MSH2_00354 + NM_000251.1(MSH2):c.1276+47T>A chr2 47575495 47575496 MMR_MSH2_00356 + NM_000251.1(MSH2):c.1276+6765G>A chr2 47578488 47578489 MMR_MSH2_00357 + NM_000251.1(MSH2):c.1277-5849T>C chr2 47583392 47583393 MMR_MSH2_00358 + NM_000251.1(MSH2):c.1277-945A>C chr2 47584125 47584126 MMR_MSH2_00359 + NM_000251.1(MSH2):c.1277-212T>A chr2 47584219 47584220 MMR_MSH2_00360 + NM_000251.1(MSH2):c.1277-118G>A chr2 47584323 47584324 MMR_MSH2_00361 + NM_000251.1(MSH2):c.1277-14C>G chr2 47584327 47584328 MMR_MSH2_00362 + NM_000251.1(MSH2):c.1277-10T>C chr2 47584335 47584336 MMR_MSH2_00363 + NM_000251.1(MSH2):c.1277-2A>C chr2 47584335 47584336 MMR_MSH2_00351 + NM_000251.1(MSH2):c.1277-2A>G chr2 47584336 47584337 MMR_MSH2_00365 + NM_000251.1(MSH2):c.1277-1G>A chr2 47584336 47584337 MMR_MSH2_00364 + NM_000251.1(MSH2):c.1277-1G>C chr2 47584337 47584447 MMR_MSH2_00378 + NM_000251.1(MSH2):c.1277-?_1386+?del chr2 47584337 47605598 MMR_MSH2_00369 + NM_000251.1(MSH2):c.1277-?_1661+?del chr2 47584337 47609852 MMR_MSH2_00370 + NM_000251.1(MSH2):c.1277-?_1759+?del chr2 47584337 47619661 MMR_MSH2_00371 + NM_000251.1(MSH2):c.1277-?_2634+?del chr2 47584337 47621739 MMR_MSH2_00373 + NM_000251.1(MSH2):c.1277-?_2805+?del chr2 47584336 47621740 MMR_MSH2_00389 + NM_000251.1(MSH2):c.1277-?_2805+?inv chr2 47584345 47584346 MMR_MSH2_00366 + NM_000251.1(MSH2):c.1285C>T chr2 47584347 47584348 MMR_MSH2_00379 + NM_000251.1(MSH2):c.1287dupG chr2 47584348 47584349 MMR_MSH2_00380 + NM_000251.1(MSH2):c.1288A>T chr2 47584352 47584353 MMR_MSH2_00375 + NM_000251.1(MSH2):c.1292T>A chr2 47584375 47584378 MMR_MSH2_00386 + NM_000251.1(MSH2):c.1315_1317delCCT chr2 47584376 47584378 MMR_MSH2_00376 + NM_000251.1(MSH2):c.1316_1317delCT chr2 47584379 47584387 MMR_MSH2_00374 + NM_000251.1(MSH2):c.1319_1326delTTACTGATinsCC chr2 47584381 47584382 MMR_MSH2_00388 + NM_000251.1(MSH2):c.1321dupA chr2 47584399 47584400 MMR_MSH2_00385 + NM_000251.1(MSH2):c.1339T>G chr2 47584400 47584402 MMR_MSH2_00384 + NM_000251.1(MSH2):c.1340_1341insGG chr2 47584405 47584406 MMR_MSH2_00381 + NM_000251.1(MSH2):c.1345A>T chr2 47584412 47584414 MMR_MSH2_00367 + NM_000251.1(MSH2):c.1352_1353delAG chr2 47584416 47584417 MMR_MSH2_00368 + NM_000251.1(MSH2):c.1356A>G chr2 47584418 47584419 MMR_MSH2_00382 + NM_000251.1(MSH2):c.1358T>A chr2 47584433 47584434 MMR_MSH2_00377 + NM_000251.1(MSH2):c.1373T>G chr2 47584447 47584448 MMR_MSH2_00390 + NM_000251.1(MSH2):c.1386+1G>A chr2 47584447 47584448 MMR_MSH2_00748 + NM_000251.1(MSH2):c.1386+1G>C chr2 47584447 47584448 MMR_MSH2_00391 + NM_000251.1(MSH2):c.1386+1G>T chr2 47584519 47584520 MMR_MSH2_00392 + NM_000251.1(MSH2):c.1386+73G>A chr2 47601570 47601571 MMR_MSH2_00394 + NM_000251.1(MSH2):c.1387-250G>A chr2 47601812 47601813 MMR_MSH2_00395 + NM_000251.1(MSH2):c.1387-8G>T chr2 47601819 47601820 MMR_MSH2_00396 + NM_000251.1(MSH2):c.1387-1G>T chr2 47597844 47609391 MMR_MSH2_00415 + NM_000251.1(MSH2):c.1387-3976_1662-364del11547 chr2 47601820 47601944 MMR_MSH2_00413 + NM_000251.1(MSH2):c.1387-?_1510+?del chr2 47601820 47605598 MMR_MSH2_00414 + NM_000251.1(MSH2):c.1387-?_1661+?del chr2 47601820 47605598 MMR_MSH2_00412 + NM_000251.1(MSH2):c.1387-?_1661+?dup chr2 47601820 47617309 MMR_MSH2_00405 + NM_000251.1(MSH2):c.1387-?_2458+?del chr2 47601820 47621739 MMR_MSH2_00417 + NM_000251.1(MSH2):c.1387-?_2805+?del chr2 47601841 47601842 MMR_MSH2_00418 + NM_000251.1(MSH2):c.1408delG chr2 47601851 47601852 MMR_MSH2_00411 + NM_000251.1(MSH2):c.1418C>G chr2 47601851 47601852 MMR_MSH2_00410 + NM_000251.1(MSH2):c.1418C>T chr2 47601875 47601879 MMR_MSH2_00397 + NM_000251.1(MSH2):c.1442_1445dupTAAG chr2 47601877 47601878 MMR_MSH2_00401 + NM_000251.1(MSH2):c.1444delA chr2 47601877 47601878 MMR_MSH2_00402 + NM_000251.1(MSH2):c.1444dupA chr2 47601880 47601881 MMR_MSH2_00407 + NM_000251.1(MSH2):c.1447G>T chr2 47601880 47601882 MMR_MSH2_00406 + NM_000251.1(MSH2):c.1447_1448delGA chr2 47601885 47601889 MMR_MSH2_00408 + NM_000251.1(MSH2):c.1452_1455delAATG chr2 47601890 47601891 MMR_MSH2_00403 + NM_000251.1(MSH2):c.1457delA chr2 47601909 47601911 MMR_MSH2_00398 + NM_000251.1(MSH2):c.1476_1477delinsCT chr2 47601910 47601911 MMR_MSH2_00404 + NM_000251.1(MSH2):c.1477C>T chr2 47601920 47601921 MMR_MSH2_00409 + NM_000251.1(MSH2):c.1487T>A chr2 47601927 47601928 MMR_MSH2_00399 + NM_000251.1(MSH2):c.1494dupT chr2 47601930 47601931 MMR_MSH2_00400 + NM_000251.1(MSH2):c.1497delA chr2 47601943 47601944 MMR_MSH2_00419 + NM_000251.1(MSH2):c.1510G>C chr2 47603931 47603932 MMR_MSH2_00420 + NM_000251.1(MSH2):c.1511-1516C>T chr2 47605438 47605439 MMR_MSH2_00422 + NM_000251.1(MSH2):c.1511-9A>T chr2 47605439 47605440 MMR_MSH2_00423 + NM_000251.1(MSH2):c.1511-8T>G chr2 47605445 47605446 MMR_MSH2_00424 + NM_000251.1(MSH2):c.1511-2A>G chr2 47605446 47605447 MMR_MSH2_00425 + NM_000251.1(MSH2):c.1511-1G>T chr2 47605447 47614060 MMR_MSH2_00440 + NM_000251.1(MSH2):c.1511-?_2005+?del chr2 47605452 47605453 MMR_MSH2_00430 + NM_000251.1(MSH2):c.1516G>T chr2 47605488 47605489 MMR_MSH2_00434 + NM_000251.1(MSH2):c.1552C>T chr2 47605488 47605490 MMR_MSH2_00435 + NM_000251.1(MSH2):c.1552_1553delCA chr2 47605496 47605497 MMR_MSH2_00441 + NM_000251.1(MSH2):c.1560A>G chr2 47605499 47605500 MMR_MSH2_00449 + NM_000251.1(MSH2):c.1563T>C chr2 47605502 47605503 MMR_MSH2_00450 + NM_000251.1(MSH2):c.1566C>G chr2 47605505 47605506 MMR_MSH2_00427 + NM_000251.1(MSH2):c.1569delT chr2 47605507 47605508 MMR_MSH2_00426 + NM_000251.1(MSH2):c.1571G>C chr2 47605512 47605513 MMR_MSH2_00447 + NM_000251.1(MSH2):c.1576delA chr2 47605514 47605515 MMR_MSH2_00432 + NM_000251.1(MSH2):c.1578delC chr2 47605521 47605522 MMR_MSH2_00436 + NM_000251.1(MSH2):c.1585delG chr2 47605523 47605524 MMR_MSH2_00437 + NM_000251.1(MSH2):c.1587delA chr2 47605529 47605550 MMR_MSH2_00443 + NM_000251.1(MSH2):c.1593_1613delAGTCCTTCGTAACAATAAAAA chr2 47605530 47605531 MMR_MSH2_00451 + NM_000251.1(MSH2):c.1594dupG chr2 47605536 47605537 MMR_MSH2_00428 + NM_000251.1(MSH2):c.1600C>T chr2 47605563 47605564 MMR_MSH2_00431 + NM_000251.1(MSH2):c.1627delG chr2 47605574 47605576 MMR_MSH2_00429 + NM_000251.1(MSH2):c.1638_1639dupGA chr2 47605578 47605579 MMR_MSH2_00442 + NM_000251.1(MSH2):c.1642G>T chr2 47605590 47605591 MMR_MSH2_00448 + NM_000251.1(MSH2):c.1654A>C chr2 47605596 47605597 MMR_MSH2_00445 + NM_000251.1(MSH2):c.1660A>C chr2 47605596 47605597 MMR_MSH2_00438 + NM_000251.1(MSH2):c.1660A>G chr2 47605597 47605598 MMR_MSH2_00446 + NM_000251.1(MSH2):c.1661G>C chr2 47605598 47605599 MMR_MSH2_00452 + NM_000251.1(MSH2):c.1661+1G>A chr2 47605598 47605599 MMR_MSH2_00453 + NM_000251.1(MSH2):c.1661+1G>T chr2 47605602 47605603 MMR_MSH2_00455 + NM_000251.1(MSH2):c.1661+5G>C chr2 47605603 47605604 MMR_MSH2_00456 + NM_000251.1(MSH2):c.1661+6C>T chr2 47605609 47605610 MMR_MSH2_00458 + NM_000251.1(MSH2):c.1661+12G>A chr2 47605687 47605688 MMR_MSH2_00459 + NM_000251.1(MSH2):c.1661+90T>C chr2 47609745 47609746 MMR_MSH2_00462 + NM_000251.1(MSH2):c.1662-9G>A chr2 47609752 47609753 MMR_MSH2_00463 + NM_000251.1(MSH2):c.1662-2A>G chr2 47609753 47609754 MMR_MSH2_00464 + NM_000251.1(MSH2):c.1662-1G>A chr2 47609754 47609852 MMR_MSH2_00490 + NM_000251.1(MSH2):c.1662-?_1759+?del chr2 47609754 47609852 MMR_MSH2_00479 + NM_000251.1(MSH2):c.1662-?_1759+?dup chr2 47609754 47617309 MMR_MSH2_00492 + NM_000251.1(MSH2):c.1662-?_2458+?del chr2 47609754 47621739 MMR_MSH2_00484 + NM_000251.1(MSH2):c.1662-?_2805+?del chr2 47609754 47621739 MMR_MSH2_00493 + NM_000251.1(MSH2):c.1662-?_2805+?dup chr2 47609757 47609758 MMR_MSH2_00485 + NM_000251.1(MSH2):c.1665delA chr2 47609758 47609759 MMR_MSH2_00482 + NM_000251.1(MSH2):c.1666T>C chr2 47609759 47609761 MMR_MSH2_00497 + NM_000251.1(MSH2):c.1667_1668insA chr2 47609760 47609761 MMR_MSH2_00498 + NM_000251.1(MSH2):c.1668delG chr2 47609761 47609762 MMR_MSH2_00499 + NM_000251.1(MSH2):c.1669A>C chr2 47609764 47609765 MMR_MSH2_00494 + NM_000251.1(MSH2):c.1672delT chr2 47609768 47609769 MMR_MSH2_00483 + NM_000251.1(MSH2):c.1676delT chr2 47609771 47609772 MMR_MSH2_00467 + NM_000251.1(MSH2):c.1679delA chr2 47609773 47609774 MMR_MSH2_00470 + NM_000251.1(MSH2):c.1681G>A chr2 47609775 47609776 MMR_MSH2_00471 + NM_000251.1(MSH2):c.1683delA chr2 47609777 47609778 MMR_MSH2_00472 + NM_000251.1(MSH2):c.1685A>T chr2 47609780 47609781 MMR_MSH2_00502 + NM_000251.1(MSH2):c.1688A>C chr2 47609782 47609783 MMR_MSH2_00500 + NM_000251.1(MSH2):c.1690A>G chr2 47609788 47609790 MMR_MSH2_00466 + NM_000251.1(MSH2):c.1696_1697delAA chr2 47609791 47609792 MMR_MSH2_00488 + NM_000251.1(MSH2):c.1699A>T chr2 47609792 47609797 MMR_MSH2_00487 + NM_000251.1(MSH2):c.1700_1704delAAACA chr2 47609796 47609798 MMR_MSH2_00473 + NM_000251.1(MSH2):c.1704_1705delAG chr2 47609797 47609799 MMR_MSH2_00476 + NM_000251.1(MSH2):c.1705_1706delGA chr2 47609797 47609799 MMR_MSH2_00503 + NM_000251.1(MSH2):c.1705_1706dupGA chr2 47609798 47609800 MMR_MSH2_00475 + NM_000251.1(MSH2):c.1706_1707delAA chr2 47609798 47609800 MMR_MSH2_00474 + NM_000251.1(MSH2):c.1706_1707insT chr2 47609812 47609813 MMR_MSH2_00469 + NM_000251.1(MSH2):c.1720C>T chr2 47609812 47609813 MMR_MSH2_00468 + NM_000251.1(MSH2):c.1720delC chr2 47609822 47609823 MMR_MSH2_00480 + NM_000251.1(MSH2):c.1730T>C chr2 47609829 47609830 MMR_MSH2_00489 + NM_000251.1(MSH2):c.1737A>G chr2 47609829 47609830 MMR_MSH2_00477 + NM_000251.1(MSH2):c.1737dupA chr2 47609830 47609831 MMR_MSH2_00478 + NM_000251.1(MSH2):c.1738G>T chr2 47609833 47609834 MMR_MSH2_00481 + NM_000251.1(MSH2):c.1741dupA chr2 47609845 47609846 MMR_MSH2_00495 + NM_000251.1(MSH2):c.1753delT chr2 47609847 47609848 MMR_MSH2_00496 + NM_000251.1(MSH2):c.1755T>C chr2 47609851 47609852 MMR_MSH2_00491 + NM_000251.1(MSH2):c.1759G>C chr2 47609853 47609854 MMR_MSH2_00504 + NM_000251.1(MSH2):c.1759+2T>A chr2 47610352 47610353 MMR_MSH2_00505 + NM_000251.1(MSH2):c.1759+501A>G chr2 47613814 47614060 MMR_MSH2_00532 + NM_000251.1(MSH2):c.1760-?_2005+?del chr2 47613814 47615361 MMR_MSH2_00552 + NM_000251.1(MSH2):c.1760-?_2210+?del chr2 47613814 47619661 MMR_MSH2_00530 + NM_000251.1(MSH2):c.1760-?_2634+?del chr2 47613814 47621736 MMR_MSH2_00533 + NM_000251.1(MSH2):c.1760-?_2802+?del chr2 47613814 47613815 MMR_MSH2_00534 + NM_000251.1(MSH2):c.1760delG chr2 47613818 47613819 MMR_MSH2_00554 + NM_000251.1(MSH2):c.1764T>G chr2 47613825 47613827 MMR_MSH2_00546 + NM_000251.1(MSH2):c.1771_1772insA chr2 47613827 47613828 MMR_MSH2_00545 + NM_000251.1(MSH2):c.1773dupA chr2 47613831 47613832 MMR_MSH2_00523 + NM_000251.1(MSH2):c.1777C>T chr2 47613833 47613837 MMR_MSH2_00522 + NM_000251.1(MSH2):c.1779_1782delGACA chr2 47613835 47613837 MMR_MSH2_00550 + NM_000251.1(MSH2):c.1781_1782insCT chr2 47613840 47613843 MMR_MSH2_00513 + NM_000251.1(MSH2):c.1786_1788delAAT chr2 47613841 47613842 MMR_MSH2_00516 + NM_000251.1(MSH2):c.1787A>G chr2 47613842 47613844 MMR_MSH2_00515 + NM_000251.1(MSH2):c.1788_1789delTG chr2 47613853 47613854 MMR_MSH2_00506 + NM_000251.1(MSH2):c.1799C>T chr2 47613855 47613856 MMR_MSH2_00524 + NM_000251.1(MSH2):c.1801C>T chr2 47613861 47613862 MMR_MSH2_00517 + NM_000251.1(MSH2):c.1807G>A chr2 47613861 47613862 MMR_MSH2_00519 + NM_000251.1(MSH2):c.1807G>T chr2 47613863 47613864 MMR_MSH2_00518 + NM_000251.1(MSH2):c.1809delT chr2 47613866 47613869 MMR_MSH2_00558 + NM_000251.1(MSH2):c.1812_1814delTGT chr2 47613880 47613881 MMR_MSH2_00507 + NM_000251.1(MSH2):c.1826C>T chr2 47613889 47613890 MMR_MSH2_00549 + NM_000251.1(MSH2):c.1835C>G chr2 47613910 47613911 MMR_MSH2_00555 + NM_000251.1(MSH2):c.1856A>G chr2 47613911 47613912 MMR_MSH2_00556 + NM_000251.1(MSH2):c.1857T>G chr2 47613911 47613913 MMR_MSH2_00559 + NM_000251.1(MSH2):c.1857_1858dupTG chr2 47613912 47613914 MMR_MSH2_00510 + NM_000251.1(MSH2):c.1858_1859dupGT chr2 47613915 47613916 MMR_MSH2_00511 + NM_000251.1(MSH2):c.1861C>T chr2 47613918 47613919 MMR_MSH2_00548 + NM_000251.1(MSH2):c.1864C>A chr2 47613919 47613920 MMR_MSH2_00547 + NM_000251.1(MSH2):c.1865C>T chr2 47613927 47613928 MMR_MSH2_00541 + NM_000251.1(MSH2):c.1873T>G chr2 47613935 47613936 MMR_MSH2_00542 + NM_000251.1(MSH2):c.1881A>C chr2 47613939 47613940 MMR_MSH2_00526 + NM_000251.1(MSH2):c.1885C>T chr2 47613940 47613941 MMR_MSH2_00525 + NM_000251.1(MSH2):c.1886A>G chr2 47613943 47613947 MMR_MSH2_00535 + NM_000251.1(MSH2):c.1889_1892delGAAG chr2 47613950 47613952 MMR_MSH2_00539 + NM_000251.1(MSH2):c.1896_1897insA chr2 47613960 47613961 MMR_MSH2_00508 + NM_000251.1(MSH2):c.1906G>C chr2 47613961 47613962 MMR_MSH2_00509 + NM_000251.1(MSH2):c.1907C>T chr2 47613965 47613966 MMR_MSH2_00512 + NM_000251.1(MSH2):c.1911delC chr2 47613969 47613970 MMR_MSH2_00537 + NM_000251.1(MSH2):c.1915C>T chr2 47613969 47613970 MMR_MSH2_00531 + NM_000251.1(MSH2):c.[..1915C>T..] chr2 47617060 47617061 MMR_MSH2_00531 + NM_000251.1(MSH2):c.[..2211-1G>T..] chr2 47613975 47613976 MMR_MSH2_00521 + NM_000251.1(MSH2):c.1921T>G chr2 47613993 47613994 MMR_MSH2_00529 + NM_000251.1(MSH2):c.1939G>T chr2 47614022 47614023 MMR_MSH2_00557 + NM_000251.1(MSH2):c.1968C>G chr2 47614033 47614035 MMR_MSH2_00520 + NM_000251.1(MSH2):c.1979_1980delAT chr2 47614037 47614038 MMR_MSH2_00527 + NM_000251.1(MSH2):c.1983dupA chr2 47614039 47614041 MMR_MSH2_00528 + NM_000251.1(MSH2):c.1985_1986delAG chr2 47614040 47614041 MMR_MSH2_00544 + NM_000251.1(MSH2):c.1986delG chr2 47614050 47614052 MMR_MSH2_00540 + NM_000251.1(MSH2):c.1996_1997delAT chr2 47614059 47614060 MMR_MSH2_00536 + NM_000251.1(MSH2):c.2005G>A chr2 47617060 47617061 MMR_MSH2_00538 + NM_000251.1(MSH2):c.2211-1G>T chr2 47614060 47614061 MMR_MSH2_00563 + NM_000251.1(MSH2):c.2005+1G>T chr2 47614061 47614062 MMR_MSH2_00565 + NM_000251.1(MSH2):c.2005+2T>C chr2 47614067 47614068 MMR_MSH2_00567 + NM_000251.1(MSH2):c.2005+8dupA chr2 47614084 47614085 MMR_MSH2_00568 + NM_000251.1(MSH2):c.2005+25T>G chr2 47614891 47614892 MMR_MSH2_00569 + NM_000251.1(MSH2):c.2006-265A>G chr2 47615150 47615151 MMR_MSH2_00562 + NM_000251.1(MSH2):c.2006-6T>A chr2 47615150 47615151 MMR_MSH2_00571 + NM_000251.1(MSH2):c.2006-6T>C chr2 47615150 47615151 MMR_MSH2_00572 + NM_000251.1(MSH2):c.2006-6T>G chr2 47615151 47615152 MMR_MSH2_00560 + NM_000251.1(MSH2):c.2006-5T>A chr2 47615154 47615155 MMR_MSH2_00561 + NM_000251.1(MSH2):c.2006-2A>G chr2 47615155 47615156 MMR_MSH2_00576 + NM_000251.1(MSH2):c.2006-1G>C chr2 47615156 47615361 MMR_MSH2_00609 + NM_000251.1(MSH2):c.2006-?_2210+?del chr2 47615156 47619661 MMR_MSH2_00590 + NM_000251.1(MSH2):c.2006-?_2634+?del chr2 47615156 47615157 MMR_MSH2_00591 + NM_000251.1(MSH2):c.2006G>A chr2 47615160 47615161 MMR_MSH2_00610 + NM_000251.1(MSH2):c.2010delC chr2 47615161 47615162 MMR_MSH2_00582 + NM_000251.1(MSH2):c.2011A>T chr2 47615165 47615166 MMR_MSH2_00604 + NM_000251.1(MSH2):c.2015delT chr2 47615168 47615169 MMR_MSH2_00592 + NM_000251.1(MSH2):c.2018delG chr2 47615170 47615171 MMR_MSH2_00593 + NM_000251.1(MSH2):c.2020G>A chr2 47615174 47615175 MMR_MSH2_00603 + NM_000251.1(MSH2):c.2024A>G chr2 47615176 47615177 MMR_MSH2_00611 + NM_000251.1(MSH2):c.2026T>C chr2 47615181 47615183 MMR_MSH2_00598 + NM_000251.1(MSH2):c.2031_2032delAT chr2 47615188 47615189 MMR_MSH2_00580 + NM_000251.1(MSH2):c.2038C>T chr2 47615194 47615195 MMR_MSH2_00613 + NM_000251.1(MSH2):c.2044A>G chr2 47615203 47615207 MMR_MSH2_00616 + NM_000251.1(MSH2):c.2053_2056dupATAG chr2 47615211 47615212 MMR_MSH2_00602 + NM_000251.1(MSH2):c.2061C>G chr2 47615213 47615214 MMR_MSH2_00605 + NM_000251.1(MSH2):c.2063T>G chr2 47615214 47615215 MMR_MSH2_00606 + NM_000251.1(MSH2):c.2064G>A chr2 47615221 47615222 MMR_MSH2_00599 + NM_000251.1(MSH2):c.2071dupA chr2 47615224 47615225 MMR_MSH2_00594 + NM_000251.1(MSH2):c.2074G>C chr2 47615225 47615226 MMR_MSH2_00595 + NM_000251.1(MSH2):c.2075G>T chr2 47615230 47615231 MMR_MSH2_00607 + NM_000251.1(MSH2):c.2080T>C chr2 47615232 47615233 MMR_MSH2_00608 + NM_000251.1(MSH2):c.2082delT chr2 47615239 47615240 MMR_MSH2_00584 + NM_000251.1(MSH2):c.2089T>C chr2 47615240 47615241 MMR_MSH2_00585 + NM_000251.1(MSH2):c.2090G>T chr2 47615241 47615242 MMR_MSH2_00586 + NM_000251.1(MSH2):c.2091T>A chr2 47615263 47615264 MMR_MSH2_00617 + NM_000251.1(MSH2):c.2113delG chr2 47615273 47615274 MMR_MSH2_00600 + NM_000251.1(MSH2):c.2123T>A chr2 47615281 47615282 MMR_MSH2_00581 + NM_000251.1(MSH2):c.2131C>T chr2 47615285 47615286 MMR_MSH2_00618 + NM_000251.1(MSH2):c.2135dupT chr2 47615289 47615290 MMR_MSH2_00596 + NM_000251.1(MSH2):c.2139G>C chr2 47615291 47615292 MMR_MSH2_00579 + NM_000251.1(MSH2):c.2141C>T chr2 47615291 47615292 MMR_MSH2_00578 + NM_000251.1(MSH2):c.2141dupC chr2 47615304 47615305 MMR_MSH2_00587 + NM_000251.1(MSH2):c.2154A>G chr2 47615310 47615314 MMR_MSH2_00597 + NM_000251.1(MSH2):c.2160_2163delAGGA chr2 47615318 47615319 MMR_MSH2_00612 + NM_000251.1(MSH2):c.2168C>T chr2 47615321 47615322 MMR_MSH2_00614 + NM_000251.1(MSH2):c.2171C>A chr2 47615341 47615342 MMR_MSH2_00589 + NM_000251.1(MSH2):c.2191G>T chr2 47615344 47615347 MMR_MSH2_00615 + NM_000251.1(MSH2):c.2194_2196delACT chr2 47615354 47615355 MMR_MSH2_00601 + NM_000251.1(MSH2):c.2204delT chr2 47615361 47615362 MMR_MSH2_00620 + NM_000251.1(MSH2):c.2210+1G>A chr2 47615361 47615362 MMR_MSH2_00619 + NM_000251.1(MSH2):c.2210+1G>C chr2 47615368 47615369 MMR_MSH2_00621 + NM_000251.1(MSH2):c.2210+8dupC chr2 47615437 47615438 MMR_MSH2_00622 + NM_000251.1(MSH2):c.2210+77T>C chr2 47615634 47615635 MMR_MSH2_00623 + NM_000251.1(MSH2):c.2210+274T>G chr2 47615677 47615678 MMR_MSH2_00624 + NM_000251.1(MSH2):c.2210+317G>C chr2 47617051 47617052 MMR_MSH2_00625 + NM_000251.1(MSH2):c.2211-10T>A chr2 47617055 47617056 MMR_MSH2_00626 + NM_000251.1(MSH2):c.2211-6C>T chr2 47617059 47617060 MMR_MSH2_00627 + NM_000251.1(MSH2):c.2211-2A>C chr2 47617078 47617079 MMR_MSH2_00647 + NM_000251.1(MSH2):c.2228C>A chr2 47617078 47617079 MMR_MSH2_00646 + NM_000251.1(MSH2):c.2228C>G chr2 47617078 47617082 MMR_MSH2_00648 + NM_000251.1(MSH2):c.2228_2231delCATT chr2 47617081 47617082 MMR_MSH2_00642 + NM_000251.1(MSH2):c.2231T>G chr2 47617087 47617089 MMR_MSH2_00639 + NM_000251.1(MSH2):c.2237_2238insA chr2 47617090 47617092 MMR_MSH2_00638 + NM_000251.1(MSH2):c.2240_2241delTA chr2 47617095 47617096 MMR_MSH2_00631 + NM_000251.1(MSH2):c.2245G>A chr2 47617095 47617096 MMR_MSH2_00632 + NM_000251.1(MSH2):c.2245G>T chr2 47617101 47617102 MMR_MSH2_00635 + NM_000251.1(MSH2):c.2251G>A chr2 47617125 47617126 MMR_MSH2_00636 + NM_000251.1(MSH2):c.2275G>T chr2 47617140 47617141 MMR_MSH2_00655 + NM_000251.1(MSH2):c.2290delT chr2 47617142 47617143 MMR_MSH2_00656 + NM_000251.1(MSH2):c.2292G>A chr2 47617143 47617144 MMR_MSH2_00628 + NM_000251.1(MSH2):c.2293G>A chr2 47617144 47617145 MMR_MSH2_00629 + NM_000251.1(MSH2):c.2294delC chr2 47617145 47617146 MMR_MSH2_00640 + NM_000251.1(MSH2):c.2295delT chr2 47617155 47617156 MMR_MSH2_00657 + NM_000251.1(MSH2):c.2305delT chr2 47617158 47617159 MMR_MSH2_00641 + NM_000251.1(MSH2):c.2308A>G chr2 47617184 47617185 MMR_MSH2_00630 + NM_000251.1(MSH2):c.2334C>A chr2 47617185 47617186 MMR_MSH2_00644 + NM_000251.1(MSH2):c.2335dupA chr2 47617197 47617198 MMR_MSH2_00637 + NM_000251.1(MSH2):c.2347delC chr2 47617210 47617212 MMR_MSH2_00650 + NM_000251.1(MSH2):c.2360_2361dupTT chr2 47617212 47617213 MMR_MSH2_00649 + NM_000251.1(MSH2):c.2362dupA chr2 47617213 47617215 MMR_MSH2_00651 + NM_000251.1(MSH2):c.2363_2364delCT chr2 47617238 47617239 MMR_MSH2_00658 + NM_000251.1(MSH2):c.2388delT chr2 47617257 47617258 MMR_MSH2_00652 + NM_000251.1(MSH2):c.2407A>G chr2 47617258 47617260 MMR_MSH2_00653 + NM_000251.1(MSH2):c.2408_2409delCA chr2 47617272 47617273 MMR_MSH2_00633 + NM_000251.1(MSH2):c.2422G>T chr2 47617277 47617278 MMR_MSH2_00654 + NM_000251.1(MSH2):c.2427dupG chr2 47617282 47617283 MMR_MSH2_00643 + NM_000251.1(MSH2):c.2432T>G chr2 47617287 47617288 MMR_MSH2_00645 + NM_000251.1(MSH2):c.2437A>G chr2 47617296 47617297 MMR_MSH2_00634 + NM_000251.1(MSH2):c.2446C>T chr2 47617309 47617310 MMR_MSH2_00659 + NM_000251.1(MSH2):c.2458+1G>A chr2 47619473 47619474 MMR_MSH2_00661 + NM_000251.1(MSH2):c.2459-12A>G chr2 47619483 47619484 MMR_MSH2_00660 + NM_000251.1(MSH2):c.2459-2A>C chr2 47619485 47619661 MMR_MSH2_00680 + NM_000251.1(MSH2):c.2459-?_2634+?del chr2 47619485 47619661 MMR_MSH2_00676 + NM_000251.1(MSH2):c.2459-?_2634+?dup chr2 47619485 47621739 MMR_MSH2_00681 + NM_000251.1(MSH2):c.2459-?_2805+?del chr2 47619492 47619493 MMR_MSH2_00667 + NM_000251.1(MSH2):c.2466T>A chr2 47619492 47619494 MMR_MSH2_00666 + NM_000251.1(MSH2):c.2466_2467delTG chr2 47619496 47619497 MMR_MSH2_00670 + NM_000251.1(MSH2):c.2470C>G chr2 47619496 47619497 MMR_MSH2_00672 + NM_000251.1(MSH2):c.2470C>T chr2 47619505 47619506 MMR_MSH2_00682 + NM_000251.1(MSH2):c.2479G>A chr2 47619511 47619512 MMR_MSH2_00683 + NM_000251.1(MSH2):c.2485delC chr2 47619526 47619527 MMR_MSH2_00662 + NM_000251.1(MSH2):c.2500G>A chr2 47619528 47619535 MMR_MSH2_00665 + NM_000251.1(MSH2):c.2502_2508delTAATTTC chr2 47619533 47619534 MMR_MSH2_00687 + NM_000251.1(MSH2):c.2507delT chr2 47619542 47619543 MMR_MSH2_00684 + NM_000251.1(MSH2):c.2516A>G chr2 47619555 47619557 MMR_MSH2_00663 + NM_000251.1(MSH2):c.2529_2530delTG chr2 47619559 47619560 MMR_MSH2_00686 + NM_000251.1(MSH2):c.2533A>G chr2 47619562 47619563 MMR_MSH2_00673 + NM_000251.1(MSH2):c.2536C>T chr2 47619584 47619585 MMR_MSH2_00677 + NM_000251.1(MSH2):c.2558A>C chr2 47619601 47619602 MMR_MSH2_00678 + NM_000251.1(MSH2):c.2575G>T chr2 47619605 47619606 MMR_MSH2_00690 + NM_000251.1(MSH2):c.2579C>A chr2 47619605 47619606 MMR_MSH2_00689 + NM_000251.1(MSH2):c.2579C>T chr2 47619607 47619608 MMR_MSH2_00675 + NM_000251.1(MSH2):c.2581C>T chr2 47619609 47619610 MMR_MSH2_00674 + NM_000251.1(MSH2):c.2583A>G chr2 47619628 47619629 MMR_MSH2_00688 + NM_000251.1(MSH2):c.2602C>G chr2 47619635 47619636 MMR_MSH2_00664 + NM_000251.1(MSH2):c.2609C>G chr2 47619643 47619644 MMR_MSH2_00668 + NM_000251.1(MSH2):c.2617T>G chr2 47619646 47619648 MMR_MSH2_00691 + NM_000251.1(MSH2):c.2620_2621ins115 chr2 47619659 47619661 MMR_MSH2_00679 + NM_000251.1(MSH2):c.2633_2634delAG chr2 47619660 47619661 MMR_MSH2_00692 + NM_000251.1(MSH2):c.2634G>C chr2 47619661 47619662 MMR_MSH2_00693 + NM_000251.1(MSH2):c.2634+1G>A chr2 47619661 47619662 MMR_MSH2_00694 + NM_000251.1(MSH2):c.2634+1G>T chr2 47619665 47619666 MMR_MSH2_00695 + NM_000251.1(MSH2):c.2634+5G>C chr2 47619690 47619691 MMR_MSH2_00696 + NM_000251.1(MSH2):c.2634+30delT chr2 47621354 47621355 MMR_MSH2_00697 + NM_000251.1(MSH2):c.2635-214T>C chr2 47621563 47621566 MMR_MSH2_00699 + NM_000251.1(MSH2):c.2635-3_2635-5delinsCTT chr2 47621567 47621568 MMR_MSH2_00698 + NM_000251.1(MSH2):c.2635-1G>T chr2 47619655 47621739 MMR_MSH2_00700 + NM_000251.1(MSH2):c.2629-?_2805+?del chr2 47621568 47621569 MMR_MSH2_00701 + NM_000251.1(MSH2):c.2635C>T chr2 47621580 47621581 MMR_MSH2_00704 + NM_000251.1(MSH2):c.2647delA chr2 47621580 47621581 MMR_MSH2_00706 + NM_000251.1(MSH2):c.2647dupA chr2 47621584 47621585 MMR_MSH2_00705 + NM_000251.1(MSH2):c.2651T>G chr2 47621586 47621587 MMR_MSH2_00702 + NM_000251.1(MSH2):c.2653C>T chr2 47621590 47621591 MMR_MSH2_00703 + NM_000251.1(MSH2):c.2657A>G chr2 47621595 47621596 MMR_MSH2_00708 + NM_000251.1(MSH2):c.2662delC chr2 47621596 47621597 MMR_MSH2_00707 + NM_000251.1(MSH2):c.2663T>G chr2 47621647 47621648 MMR_MSH2_00711 + NM_000251.1(MSH2):c.2714C>G chr2 47621699 47621700 MMR_MSH2_00710 + NM_000251.1(MSH2):c.2766T>C chr2 47621701 47621702 MMR_MSH2_00713 + NM_000251.1(MSH2):c.2768T>A chr2 47621725 47621726 MMR_MSH2_00709 + NM_000251.1(MSH2):c.2792A>C chr2 47621735 47621736 MMR_MSH2_00712 + NM_000251.1(MSH2):c.2802G>C chr2 47921575 47921576 MMR_MSH6_00003 + AC006509.15(MSH6):c.-448G>A chr2 47921813 47921814 MMR_MSH6_00004 + AC006509.15(MSH6):c.-210C>T chr2 47922005 47922006 MMR_MSH6_00006 + AC006509.15(MSH6):c.-18G>T chr2 47922023 47929913 MMR_MSH6_00001 + AC006509.15(MSH6):c.1-?_457+?del chr2 47922060 47922061 MMR_MSH6_00033 + AC006509.15(MSH6):c.38A>C chr2 47922081 47922082 MMR_MSH6_00008 + AC006509.15(MSH6):c.59C>T chr2 47922130 47922131 MMR_MSH6_00009 + AC006509.15(MSH6):c.108T>G chr2 47922183 47922184 MMR_MSH6_00011 + AC006509.15(MSH6):c.161G>C chr2 47922208 47922209 MMR_MSH6_00012 + AC006509.15(MSH6):c.186C>A chr2 47922216 47922217 MMR_MSH6_00035 + AC006509.15(MSH6):c.194C>T chr2 47922304 47922305 MMR_MSH6_00013 + AC006509.15(MSH6):c.260+22C>G chr2 47922307 47922308 MMR_MSH6_00014 + AC006509.15(MSH6):c.260+25A>C chr2 47922325 47922326 MMR_MSH6_00015 + AC006509.15(MSH6):c.260+43G>A chr2 47922378 47922379 MMR_MSH6_00016 + AC006509.15(MSH6):c.260+96A>C chr2 47922383 47922384 MMR_MSH6_00017 + AC006509.15(MSH6):c.260+101C>A chr2 47922413 47922414 MMR_MSH6_00018 + AC006509.15(MSH6):c.260+131C>A chr2 47924496 47924497 MMR_MSH6_00019 + AC006509.15(MSH6):c.260+2214C>T chr2 47928546 47928547 MMR_MSH6_00020 + AC006509.15(MSH6):c.261-1170G>T chr2 47929680 47929681 MMR_MSH6_00021 + AC006509.15(MSH6):c.261-36A>G chr2 47929716 47929913 MMR_MSH6_00022 + AC006509.15(MSH6):c.261-?_457+?dup chr2 47929731 47929732 MMR_MSH6_00023 + AC006509.15(MSH6):c.276A>G chr2 47929752 47929753 MMR_MSH6_00024 + AC006509.15(MSH6):c.297G>T chr2 47929838 47929839 MMR_MSH6_00025 + AC006509.15(MSH6):c.383G>T chr2 47929839 47929840 MMR_MSH6_00026 + AC006509.15(MSH6):c.384delT chr2 47929881 47929882 MMR_MSH6_00027 + AC006509.15(MSH6):c.426G>A chr2 47929886 47929887 MMR_MSH6_00028 + AC006509.15(MSH6):c.431G>T chr2 47929895 47929896 MMR_MSH6_00036 + AC006509.15(MSH6):c.440T>A chr2 47929914 47929915 MMR_MSH6_00029 + AC006509.15(MSH6):c.457+2T>A chr2 47929925 47929926 MMR_MSH6_00030 + AC006509.15(MSH6):c.457+13A>G chr2 47929926 47929927 MMR_MSH6_00031 + AC006509.15(MSH6):c.457+14C>G chr2 47929964 47929965 MMR_MSH6_00032 + AC006509.15(MSH6):c.457+52T>A chr2 47929975 47929977 MMR_MSH6_00039 + AC006509.15(MSH6):c.457+63_457+64delGA chr2 47930306 47930307 MMR_MSH6_00038 + AC006509.15(MSH6):c.457+394T>C chr2 47931135 47931136 MMR_MSH6_00037 + AC006509.15(MSH6):c.457+1223T>C chr2 47934631 47934632 MMR_MSH6_00041 + AC006509.15(MSH6):c.458-52G>T chr2 47934682 47934683 MMR_MSH6_00040 + AC006509.15(MSH6):c.458-1G>A chr2 47937414 47937415 MMR_MSH6_00042 + AC006509.15(MSH6):c.642C>G chr2 47934692 47934693 MMR_MSH6_00046 + AC006509.15(MSH6):c.467C>G chr2 47934708 47934709 MMR_MSH6_00044 + AC006509.15(MSH6):c.483G>A chr2 47934765 47934766 MMR_MSH6_00043 + AC006509.15(MSH6):c.540T>C chr2 47934785 47934786 MMR_MSH6_00045 + AC006509.15(MSH6):c.560A>C chr2 47934824 47934825 MMR_MSH6_00047 + AC006509.15(MSH6):c.599C>A chr2 47936052 47936053 MMR_MSH6_00048 + AC006509.15(MSH6):c.627+1200T>C chr2 47936526 47936527 MMR_MSH6_00051 + AC006509.15(MSH6):c.628-874C>T chr2 47937344 47937345 MMR_MSH6_00050 + AC006509.15(MSH6):c.628-56C>T chr2 47937346 47937347 MMR_MSH6_00049 + AC006509.15(MSH6):c.628-54T>C chr2 47937414 47937415 MMR_MSH6_00161 + AC006509.15(MSH6):c.642C>T chr2 47937420 47937422 MMR_MSH6_00052 + AC006509.15(MSH6):c.648_649delinsTT chr2 47937421 47937423 MMR_MSH6_00075 + AC006509.15(MSH6):c.649_650insT chr2 47937423 47937424 MMR_MSH6_00129 + AC006509.15(MSH6):c.651dupT chr2 47937432 47937433 MMR_MSH6_00097 + AC006509.15(MSH6):c.660A>C chr2 47937452 47937453 MMR_MSH6_00146 + AC006509.15(MSH6):c.680G>T chr2 47937478 47937479 MMR_MSH6_00085 + AC006509.15(MSH6):c.706C>T chr2 47937490 47937491 MMR_MSH6_00058 + AC006509.15(MSH6):c.718C>T chr2 47937511 47937513 MMR_MSH6_00131 + AC006509.15(MSH6):c.739_740insT chr2 47937514 47937515 MMR_MSH6_00059 + AC006509.15(MSH6):c.742C>T chr2 47937519 47937520 MMR_MSH6_00061 + AC006509.15(MSH6):c.747G>A chr2 47937566 47937567 MMR_MSH6_00138 + AC006509.15(MSH6):c.794T>G chr2 47937586 47937587 MMR_MSH6_00098 + AC006509.15(MSH6):c.814G>T chr2 47937626 47937627 MMR_MSH6_00147 + AC006509.15(MSH6):c.854G>T chr2 47937638 47937640 MMR_MSH6_00105 + AC006509.15(MSH6):c.866_867delinsAA chr2 47937640 47937641 MMR_MSH6_00117 + AC006509.15(MSH6):c.868delC chr2 47937716 47937717 MMR_MSH6_00148 + AC006509.15(MSH6):c.944C>T chr2 47937791 47937792 MMR_MSH6_00139 + AC006509.15(MSH6):c.1019T>C chr2 47937854 47937855 MMR_MSH6_00062 + AC006509.15(MSH6):c.1082G>A chr2 47937907 47937912 MMR_MSH6_00063 + AC006509.15(MSH6):c.1135_1139delAGAGA chr2 47937925 47937928 MMR_MSH6_00064 + AC006509.15(MSH6):c.1153_1155delAGG chr2 47937936 47937937 MMR_MSH6_00110 + AC006509.15(MSH6):c.1164C>T chr2 47937942 47937943 MMR_MSH6_00076 + AC006509.15(MSH6):c.1170T>C chr2 47937958 47937959 MMR_MSH6_00118 + AC006509.15(MSH6):c.1186C>G chr2 47937962 47937963 MMR_MSH6_00164 + AC006509.15(MSH6):c.1190A>G chr2 47937962 47937964 MMR_MSH6_00165 + AC006509.15(MSH6):c.1190_1191delAT chr2 47938029 47938030 MMR_MSH6_00086 + AC006509.15(MSH6):c.1257G>A chr2 47938044 47938045 MMR_MSH6_00172 + AC006509.15(MSH6):c.1272C>G chr2 47938045 47938046 MMR_MSH6_00111 + AC006509.15(MSH6):c.1273A>G chr2 47938067 47938069 MMR_MSH6_00140 + AC006509.15(MSH6):c.1295_1296delinsGCA chr2 47938076 47938077 MMR_MSH6_00119 + AC006509.15(MSH6):c.1304T>C chr2 47938118 47938119 MMR_MSH6_00120 + AC006509.15(MSH6):c.1346T>C chr2 47938175 47938176 MMR_MSH6_00065 + AC006509.15(MSH6):c.1403G>A chr2 47938193 47938194 MMR_MSH6_00173 + AC006509.15(MSH6):c.1421dupT chr2 47938193 47938195 MMR_MSH6_00087 + AC006509.15(MSH6):c.1421_1422dupTG chr2 47938216 47938217 MMR_MSH6_00066 + AC006509.15(MSH6):c.1444C>T chr2 47938225 47938226 MMR_MSH6_00088 + AC006509.15(MSH6):c.1453C>T chr2 47938246 47938247 MMR_MSH6_00135 + AC006509.15(MSH6):c.1474A>G chr2 47938280 47938281 MMR_MSH6_00149 + AC006509.15(MSH6):c.1508C>G chr2 47938298 47938299 MMR_MSH6_00174 + AC006509.15(MSH6):c.1526T>C chr2 47938337 47938338 MMR_MSH6_00089 + AC006509.15(MSH6):c.1565A>G chr2 47938352 47938353 MMR_MSH6_00121 + AC006509.15(MSH6):c.1580delT chr2 47938368 47938369 MMR_MSH6_00150 + AC006509.15(MSH6):c.1596dupT chr2 47938374 47938375 MMR_MSH6_00090 + AC006509.15(MSH6):c.1602delC chr2 47938385 47938386 MMR_MSH6_00160 + AC006509.15(MSH6):c.1613A>C chr2 47938386 47938388 MMR_MSH6_00166 + AC006509.15(MSH6):c.1614_1615delinsG chr2 47938404 47938408 MMR_MSH6_00099 + AC006509.15(MSH6):c.1632_1635delAAAA chr2 47938406 47938410 MMR_MSH6_00132 + AC006509.15(MSH6):c.1634_1637delAAGA chr2 47938408 47938409 MMR_MSH6_00100 + AC006509.15(MSH6):c.1636G>C chr2 47938409 47938411 MMR_MSH6_00101 + AC006509.15(MSH6):c.1637_1638delAG chr2 47938439 47938440 MMR_MSH6_00167 + AC006509.15(MSH6):c.1667A>T chr2 47938448 47938449 MMR_MSH6_00082 + AC006509.15(MSH6):c.1676G>A chr2 47938449 47938450 MMR_MSH6_00081 + AC006509.15(MSH6):c.1677C>T chr2 47938468 47938469 MMR_MSH6_00106 + AC006509.15(MSH6):c.1696G>A chr2 47938495 47938496 MMR_MSH6_00077 + AC006509.15(MSH6):c.1723G>T chr2 47938511 47938512 MMR_MSH6_00151 + AC006509.15(MSH6):c.1739C>T chr2 47938556 47938557 MMR_MSH6_00122 + AC006509.15(MSH6):c.1784delT chr2 47938578 47938582 MMR_MSH6_00152 + AC006509.15(MSH6):c.1806_1809delAAAG chr2 47938607 47938608 MMR_MSH6_00153 + AC006509.15(MSH6):c.1835C>A chr2 47938629 47938630 MMR_MSH6_00102 + AC006509.15(MSH6):c.1857A>C chr2 47938639 47938640 MMR_MSH6_00143 + AC006509.15(MSH6):c.1867C>G chr2 47938640 47938641 MMR_MSH6_00144 + AC006509.15(MSH6):c.1868C>T chr2 47938647 47938648 MMR_MSH6_00154 + AC006509.15(MSH6):c.1875C>T chr2 47938673 47938674 MMR_MSH6_00124 + AC006509.15(MSH6):c.1901T>A chr2 47938673 47938675 MMR_MSH6_00123 + AC006509.15(MSH6):c.1901_1902delTG chr2 47938729 47938733 MMR_MSH6_00136 + AC006509.15(MSH6):c.1957_1960dupGTGA chr2 47938768 47938769 MMR_MSH6_00155 + AC006509.15(MSH6):c.1996T>C chr2 47938780 47938781 MMR_MSH6_00107 + AC006509.15(MSH6):c.2008G>A chr2 47938826 47938827 MMR_MSH6_00108 + AC006509.15(MSH6):c.2054G>C chr2 47938834 47938836 MMR_MSH6_00171 + AC006509.15(MSH6):c.2062_2063delGT chr2 47938851 47938852 MMR_MSH6_00083 + AC006509.15(MSH6):c.2079dupA chr2 47938864 47938865 MMR_MSH6_00091 + AC006509.15(MSH6):c.2092C>G chr2 47938877 47938878 MMR_MSH6_00156 + AC006509.15(MSH6):c.2105C>G chr2 47938922 47938926 MMR_MSH6_00175 + AC006509.15(MSH6):c.2150_2153delTCAG chr2 47938937 47938958 MMR_MSH6_00157 + AC006509.15(MSH6):c.2165_2185delCTGGTGCTATCTTCACCAAAG chr2 47938947 47938948 MMR_MSH6_00112 + AC006509.15(MSH6):c.2175C>G chr2 47938948 47938950 MMR_MSH6_00141 + AC006509.15(MSH6):c.2176_2177delinsAG chr2 47938955 47938956 MMR_MSH6_00133 + AC006509.15(MSH6):c.2183A>C chr2 47938963 47938964 MMR_MSH6_00092 + AC006509.15(MSH6):c.2191C>T chr2 47938966 47938967 MMR_MSH6_00067 + AC006509.15(MSH6):c.2194C>T chr2 47939011 47939012 MMR_MSH6_00125 + AC006509.15(MSH6):c.2239C>T chr2 47939025 47939026 MMR_MSH6_00073 + AC006509.15(MSH6):c.2253T>C chr2 47939044 47939045 MMR_MSH6_00126 + AC006509.15(MSH6):c.2272C>T chr2 47939067 47939068 MMR_MSH6_00084 + AC006509.15(MSH6):c.2295C>G chr2 47939074 47939077 MMR_MSH6_00145 + AC006509.15(MSH6):c.2302_2304delCCT chr2 47939086 47939087 MMR_MSH6_00069 + AC006509.15(MSH6):c.2314C>T chr2 47939087 47939088 MMR_MSH6_00068 + AC006509.15(MSH6):c.2315G>A chr2 47939091 47939092 MMR_MSH6_00127 + AC006509.15(MSH6):c.2319C>T chr2 47939111 47939112 MMR_MSH6_00054 + AC006509.15(MSH6):c.2339C>G chr2 47939132 47939133 MMR_MSH6_00055 + AC006509.15(MSH6):c.2360C>T chr2 47939161 47939162 MMR_MSH6_00078 + AC006509.15(MSH6):c.2389delG chr2 47939170 47939171 MMR_MSH6_00177 + AC006509.15(MSH6):c.2398G>C chr2 47939171 47939172 MMR_MSH6_00176 + AC006509.15(MSH6):c.2399T>C chr2 47939180 47939181 MMR_MSH6_00079 + AC006509.15(MSH6):c.2408A>G chr2 47939197 47939198 MMR_MSH6_00178 + AC006509.15(MSH6):c.2425delG chr2 47939275 47939276 MMR_MSH6_00093 + AC006509.15(MSH6):c.2503C>T chr2 47939321 47939322 MMR_MSH6_00168 + AC006509.15(MSH6):c.2549A>G chr2 47939333 47939334 MMR_MSH6_00134 + AC006509.15(MSH6):c.2561A>T chr2 47939383 47939387 MMR_MSH6_00113 + AC006509.15(MSH6):c.2611_2614dupATTA chr2 47939405 47939406 MMR_MSH6_00179 + AC006509.15(MSH6):c.2633T>C chr2 47939413 47939414 MMR_MSH6_00109 + AC006509.15(MSH6):c.2641delGinsAAAA chr2 47939428 47939429 MMR_MSH6_00114 + AC006509.15(MSH6):c.2656A>G chr2 47939444 47939447 MMR_MSH6_00115 + AC006509.15(MSH6):c.2672_2674delinsC chr2 47939474 47939475 MMR_MSH6_00070 + AC006509.15(MSH6):c.2702G>A chr2 47939491 47939493 MMR_MSH6_00180 + AC006509.15(MSH6):c.2719_2720delGT chr2 47939503 47939504 MMR_MSH6_00071 + AC006509.15(MSH6):c.2731C>T chr2 47939511 47939512 MMR_MSH6_00080 + AC006509.15(MSH6):c.2739T>C chr2 47939587 47939588 MMR_MSH6_00094 + AC006509.15(MSH6):c.2815C>T chr2 47939595 47939598 MMR_MSH6_00056 + AC006509.15(MSH6):c.2823_2825delTGC chr2 47939623 47939631 MMR_MSH6_00128 + AC006509.15(MSH6):c.2851_2858delCTCCTGGA chr2 47939678 47939679 MMR_MSH6_00169 + AC006509.15(MSH6):c.2906A>G chr2 47939699 47939700 MMR_MSH6_00072 + AC006509.15(MSH6):c.2927G>A chr2 47939703 47939704 MMR_MSH6_00170 + AC006509.15(MSH6):c.2931C>G chr2 47939727 47939728 MMR_MSH6_00142 + AC006509.15(MSH6):c.2955C>G chr2 47939755 47939756 MMR_MSH6_00104 + AC006509.15(MSH6):c.2983G>T chr2 47939756 47939757 MMR_MSH6_00103 + AC006509.15(MSH6):c.2984delA chr2 47939785 47939786 MMR_MSH6_00314 + AC006509.15(MSH6):c.3013C>T chr2 47939792 47939793 MMR_MSH6_00159 + AC006509.15(MSH6):c.3020G>A chr2 47939800 47939805 MMR_MSH6_00158 + AC006509.15(MSH6):c.3028_3032delACTAT chr2 47939824 47939826 MMR_MSH6_00116 + AC006509.15(MSH6):c.3052_3053delCT chr2 47939834 47939835 MMR_MSH6_00053 + AC006509.15(MSH6):c.3062C>A chr2 47939864 47939865 MMR_MSH6_00074 + AC006509.15(MSH6):c.3092A>T chr2 47939875 47939876 MMR_MSH6_00057 + AC006509.15(MSH6):c.3103C>T chr2 47939891 47939893 MMR_MSH6_00137 + AC006509.15(MSH6):c.3119_3120delTT chr2 47939927 47939929 MMR_MSH6_00095 + AC006509.15(MSH6):c.3155_3156delAG chr2 47945641 47945642 MMR_MSH6_00096 + AC006509.15(MSH6):c.4075G>T chr2 47940115 47940116 MMR_MSH6_00182 + AC006509.15(MSH6):c.3172+171C>T chr2 47941763 47944032 MMR_MSH6_00188 + AC006509.15(MSH6):c.3173-446_3556+215del2269 chr2 47942218 47942219 MMR_MSH6_00196 + AC006509.15(MSH6):c.3182delT chr2 47942231 47942232 MMR_MSH6_00187 + AC006509.15(MSH6):c.3195delC chr2 47942234 47942236 MMR_MSH6_00210 + AC006509.15(MSH6):c.3198_3199dupTA chr2 47942238 47942239 MMR_MSH6_00184 + AC006509.15(MSH6):c.3202C>T chr2 47942242 47942243 MMR_MSH6_00193 + AC006509.15(MSH6):c.3206G>A chr2 47942262 47942263 MMR_MSH6_00185 + AC006509.15(MSH6):c.3226C>T chr2 47942282 47942283 MMR_MSH6_00206 + AC006509.15(MSH6):c.3246G>T chr2 47942295 47942296 MMR_MSH6_00209 + AC006509.15(MSH6):c.3259C>A chr2 47942295 47942296 MMR_MSH6_00208 + AC006509.15(MSH6):c.3259C>T chr2 47942296 47942297 MMR_MSH6_00207 + AC006509.15(MSH6):c.3260C>G chr2 47942296 47942298 MMR_MSH6_00199 + AC006509.15(MSH6):c.3260_3261dupCC chr2 47942297 47942298 MMR_MSH6_00203 + AC006509.15(MSH6):c.3261delC chr2 47942297 47942298 MMR_MSH6_00201 + AC006509.15(MSH6):c.3261dupC chr2 47942299 47942300 MMR_MSH6_00200 + AC006509.15(MSH6):c.3263dupT chr2 47942309 47942310 MMR_MSH6_00197 + AC006509.15(MSH6):c.3273dupT chr2 47942320 47942321 MMR_MSH6_00186 + AC006509.15(MSH6):c.3284G>A chr2 47942335 47942336 MMR_MSH6_00211 + AC006509.15(MSH6):c.3299C>T chr2 47942342 47942343 MMR_MSH6_00212 + AC006509.15(MSH6):c.3306T>A chr2 47942347 47942349 MMR_MSH6_00205 + AC006509.15(MSH6):c.3311_3312delTT chr2 47942348 47942349 MMR_MSH6_00204 + AC006509.15(MSH6):c.3312delT chr2 47942356 47942357 MMR_MSH6_00189 + AC006509.15(MSH6):c.3320delA chr2 47942360 47942361 MMR_MSH6_00195 + AC006509.15(MSH6):c.3324dupT chr2 47942422 47942425 MMR_MSH6_00190 + AC006509.15(MSH6):c.3386_3388delGTG chr2 47942451 47942452 MMR_MSH6_00194 + AC006509.15(MSH6):c.3415G>A chr2 47942455 47942456 MMR_MSH6_00198 + AC006509.15(MSH6):c.3419A>G chr2 47942472 47942473 MMR_MSH6_00191 + AC006509.15(MSH6):c.3436C>T chr2 47942475 47942476 MMR_MSH6_00216 + AC006509.15(MSH6):c.3438+1G>A chr2 47942487 47942488 MMR_MSH6_00214 + AC006509.15(MSH6):c.3438+13dupT chr2 47942488 47942489 MMR_MSH6_00215 + AC006509.15(MSH6):c.3438+14A>T chr2 47943683 47943684 MMR_MSH6_00217 + AC006509.15(MSH6):c.3439-16C>T chr2 47943697 47943698 MMR_MSH6_00218 + AC006509.15(MSH6):c.3439-2A>G chr2 47943702 47943703 MMR_MSH6_00226 + AC006509.15(MSH6):c.3442G>C chr2 47943732 47943733 MMR_MSH6_00224 + AC006509.15(MSH6):c.3472T>C chr2 47943745 47943748 MMR_MSH6_00219 + AC006509.15(MSH6):c.3485_3487dupCTG chr2 47943748 47943749 MMR_MSH6_00225 + AC006509.15(MSH6):c.3488A>T chr2 47943749 47943751 MMR_MSH6_00227 + AC006509.15(MSH6):c.3489_3490insCTG chr2 47943771 47943773 MMR_MSH6_00222 + AC006509.15(MSH6):c.3511_3512delGA chr2 47943771 47943777 MMR_MSH6_00228 + AC006509.15(MSH6):c.3511_3516delGATAGAinsT chr2 47943773 47943774 MMR_MSH6_00221 + AC006509.15(MSH6):c.3513T>C chr2 47943773 47943775 MMR_MSH6_00223 + AC006509.15(MSH6):c.3513_3514delTA chr2 47943774 47943775 MMR_MSH6_00220 + AC006509.15(MSH6):c.3514dupA chr2 47943776 47943788 MMR_MSH6_00230 + AC006509.15(MSH6):c.3516_3527delAGTGTTTACTAG chr2 47943779 47943781 MMR_MSH6_00229 + AC006509.15(MSH6):c.3519_3520insA chr2 47943961 47943962 MMR_MSH6_00231 + AC006509.15(MSH6):c.3556+145A>G chr2 47943962 47943963 MMR_MSH6_00232 + AC006509.15(MSH6):c.3556+146G>A chr2 47943976 47943977 MMR_MSH6_00233 + AC006509.15(MSH6):c.3556+160T>C chr2 47944403 47944404 MMR_MSH6_00236 + AC006509.15(MSH6):c.3557-4delT chr2 47944403 47944404 MMR_MSH6_00237 + AC006509.15(MSH6):c.3557-4dupT chr2 47944404 47944405 MMR_MSH6_00234 + AC006509.15(MSH6):c.3557-3A>T chr2 47944404 47944405 MMR_MSH6_00235 + AC006509.15(MSH6):c.3557-3dupA chr2 47944408 47944416 MMR_MSH6_00238 + AC006509.15(MSH6):c.3558_3565delTGAAAGTA chr2 47944427 47944428 MMR_MSH6_00241 + AC006509.15(MSH6):c.3577G>A chr2 47944431 47944432 MMR_MSH6_00244 + AC006509.15(MSH6):c.3581dupT chr2 47944457 47944461 MMR_MSH6_00243 + AC006509.15(MSH6):c.3607_3610delCATG chr2 47944485 47944486 MMR_MSH6_00239 + AC006509.15(MSH6):c.3635dupT chr2 47944488 47944489 MMR_MSH6_00240 + AC006509.15(MSH6):c.3638A>T chr2 47944491 47944492 MMR_MSH6_00242 + AC006509.15(MSH6):c.3641A>C chr2 47944525 47944529 MMR_MSH6_00246 + AC006509.15(MSH6):c.3646+29_3646+32delCTAT chr2 47944527 47944531 MMR_MSH6_00247 + AC006509.15(MSH6):c.3646+31_3646+34dupATCT chr2 47944991 47944992 MMR_MSH6_00250 + AC006509.15(MSH6):c.3647-2A>C chr2 47945023 47945040 MMR_MSH6_00315 + AC006509.15(MSH6):c.3747-70_3747-54dup chr2 47944996 47944997 MMR_MSH6_00256 + AC006509.15(MSH6):c.3650G>A chr2 47945002 47945003 MMR_MSH6_00261 + AC006509.15(MSH6):c.3656C>T chr2 47945020 47945021 MMR_MSH6_00262 + AC006509.15(MSH6):c.3674C>T chr2 47945024 47945053 MMR_MSH6_00255 + AC006509.15(MSH6):c.3678_3706dup chr2 47945040 47945041 MMR_MSH6_00264 + AC006509.15(MSH6):c.3694G>C chr2 47945070 47945073 MMR_MSH6_00257 + AC006509.15(MSH6):c.3724_3726delCGT chr2 47945071 47945072 MMR_MSH6_00258 + AC006509.15(MSH6):c.3725G>T chr2 47945088 47945089 MMR_MSH6_00260 + AC006509.15(MSH6):c.3742C>G chr2 47945114 47945115 MMR_MSH6_00263 + AC006509.15(MSH6):c.3768T>G chr2 47945118 47945119 MMR_MSH6_00259 + AC006509.15(MSH6):c.3772C>T chr2 47945124 47945125 MMR_MSH6_00265 + AC006509.15(MSH6):c.3778G>A chr2 47945164 47945165 MMR_MSH6_00266 + AC006509.15(MSH6):c.3801+17T>C chr2 47945201 47945202 MMR_MSH6_00269 + AC006509.15(MSH6):c.3801+54C>G chr2 47945200 47945201 MMR_MSH6_00271 + AC006509.15(MSH6):c.3802-41dupT chr2 47945201 47945202 MMR_MSH6_00270 + AC006509.15(MSH6):c.3802-40C>G chr2 47945243 47945244 MMR_MSH6_00274 + AC006509.15(MSH6):c.3804dupA chr2 47945259 47945260 MMR_MSH6_00284 + AC006509.15(MSH6):c.3820G>A chr2 47945260 47945264 MMR_MSH6_00282 + AC006509.15(MSH6):c.3821_3824dupAATG chr2 47945277 47945278 MMR_MSH6_00283 + AC006509.15(MSH6):c.3838C>T chr2 47945279 47945286 MMR_MSH6_00285 + AC006509.15(MSH6):c.3840_3846delGGAGACT chr2 47945290 47945291 MMR_MSH6_00288 + AC006509.15(MSH6):c.3851C>T chr2 47945291 47945292 MMR_MSH6_00289 + AC006509.15(MSH6):c.3852G>A chr2 47945346 47945347 MMR_MSH6_00275 + AC006509.15(MSH6):c.3907G>A chr2 47945378 47945397 MMR_MSH6_00276 + AC006509.15(MSH6):c.3939_3957dupTCAAAAGGGACATAGAAAA chr2 47945392 47945394 MMR_MSH6_00278 + AC006509.15(MSH6):c.3953_3954ins32 chr2 47945397 47945399 MMR_MSH6_00272 + AC006509.15(MSH6):c.3958_3959ins19 chr2 47945398 47945402 MMR_MSH6_00277 + AC006509.15(MSH6):c.3959_3962delCAAG chr2 47945400 47945401 MMR_MSH6_00279 + AC006509.15(MSH6):c.3961A>G chr2 47945423 47945425 MMR_MSH6_00287 + AC006509.15(MSH6):c.3984_3985insATCA chr2 47945423 47945427 MMR_MSH6_00286 + AC006509.15(MSH6):c.3984_3987dupGTCA chr2 47945430 47945431 MMR_MSH6_00280 + AC006509.15(MSH6):c.3991C>T chr2 47945440 47945441 MMR_MSH6_00281 + AC006509.15(MSH6):c.4001G>A chr2 47945450 47945454 MMR_MSH6_00290 + AC006509.15(MSH6):c.4001+10_4001+13delTAAC chr2 47945452 47945456 MMR_MSH6_00292 + AC006509.15(MSH6):c.4001+12_4001+15delACTA chr2 47945472 47945476 MMR_MSH6_00293 + AC006509.15(MSH6):c.4001+32_4001+35dupAACT chr2 47945480 47945481 MMR_MSH6_00295 + AC006509.15(MSH6):c.4001+40T>C chr2 47945481 47945485 MMR_MSH6_00296 + AC006509.15(MSH6):c.4001+41_4001+44dupTAAG chr2 47945537 47945561 MMR_MSH6_00301 + AC006509.15(MSH6):c.4002-31_4002-8delins24 chr2 47945537 47945561 MMR_MSH6_00302 + AC006509.15(MSH6):c.4002-31_4002-8delinsTTAAAAAAAAAAAAAAAAAAGTTT chr2 47945558 47945559 MMR_MSH6_00299 + AC006509.15(MSH6):c.4002-10delT chr2 47945558 47945559 MMR_MSH6_00300 + AC006509.15(MSH6):c.4002-10dupT chr2 47945557 47945559 MMR_MSH6_00297 + AC006509.15(MSH6):c.4002-10_4002-11delTT chr2 47945557 47945559 MMR_MSH6_00298 + AC006509.15(MSH6):c.4002-10_4002-11dupTT chr2 47945560 47945561 MMR_MSH6_00303 + AC006509.15(MSH6):c.4002-8dupA chr2 47945627 47945628 MMR_MSH6_00306 + AC006509.15(MSH6):c.4061T>A chr2 47945630 47945632 MMR_MSH6_00308 + AC006509.15(MSH6):c.4064_4065insGTCA chr2 47945632 47945636 MMR_MSH6_00307 + AC006509.15(MSH6):c.4066_4069dupTTGA chr7 5822021 5822022 MMR_PMS2_00003 - AC005995.3(PMS2):c.-195T>C chr7 5821949 5821950 MMR_PMS2_00006 - AC005995.3(PMS2):c.-123delC chr7 5818874 5818875 MMR_PMS2_00009 - AC005995.3(PMS2):c.52A>G chr7 5818867 5818868 MMR_PMS2_00008 - AC005995.3(PMS2):c.59G>A chr7 5816911 5816912 MMR_PMS2_00011 - AC005995.3(PMS2):c.182delA chr7 5816735 5816736 MMR_PMS2_00012 - AC005995.3(PMS2):c.250+108A>G chr7 5816626 5816627 MMR_PMS2_00013 - AC005995.3(PMS2):c.288C>T chr7 5816594 5816595 MMR_PMS2_00014 - AC005995.3(PMS2):c.320G>A chr7 5816589 5816590 MMR_PMS2_00015 - AC005995.3(PMS2):c.325G>A chr7 5815461 5815462 MMR_PMS2_00017 - AC005995.3(PMS2):c.400C>T chr7 5812369 5812370 MMR_PMS2_00019 - AC005995.3(PMS2):c.538-223A>G chr7 5812141 5812142 MMR_PMS2_00022 - AC005995.3(PMS2):c.543delT chr7 5812140 5812141 MMR_PMS2_00041 - AC005995.3(PMS2):c.544G>A chr7 5811981 5811982 MMR_PMS2_00020 - AC005995.3(PMS2):c.703C>T chr7 5811978 5811979 MMR_PMS2_00023 - AC005995.3(PMS2):c.705+1G>T chr7 5811962 5811963 MMR_PMS2_00025 - AC005995.3(PMS2):c.705+17A>G chr7 5810259 5810265 MMR_PMS2_00021 - AC005995.3(PMS2):c.736_741delCCCCCTins11 chr7 5810220 5810221 MMR_PMS2_00030 - AC005995.3(PMS2):c.780C>G chr7 5808747 5808748 MMR_PMS2_00031 - AC005995.3(PMS2):c.804-243G>A chr7 5808405 5808505 MMR_PMS2_00034 - AC005995.3(PMS2):c.804-?_903+?del chr7 5808473 5808474 MMR_PMS2_00033 - AC005995.3(PMS2):c.835G>T chr7 5808452 5808453 MMR_PMS2_00032 - AC005995.3(PMS2):c.856delG chr7 5808445 5808447 MMR_PMS2_00067 - AC005995.3(PMS2):c.862_863delCA chr7 5786270 5804927 MMR_PMS2_00035 - AC005995.3(PMS2):c.906-?_2589+?del chr7 5804766 5804767 MMR_PMS2_00036 - AC005995.3(PMS2):c.988+78G>A chr7 5801965 5803123 MMR_PMS2_00039 - AC005995.3(PMS2):c.989-296_1144+706del chr7 5802671 5802827 MMR_PMS2_00038 - AC005995.3(PMS2):c.989-?_1144+?del chr7 5802794 5802795 MMR_PMS2_00037 - AC005995.3(PMS2):c.1021delA chr7 5802669 5802670 MMR_PMS2_00040 - AC005995.3(PMS2):c.1144+2T>A chr7 5786270 5800492 MMR_PMS2_00080 - AC005995.3(PMS2):c.1145-?_2589+?del chr7 5800466 5800468 MMR_PMS2_00173 - AC005995.3(PMS2):c.1169_1170ins20 chr7 5800415 5800416 MMR_PMS2_00137 - AC005995.3(PMS2):c.1221delG chr7 5800397 5800400 MMR_PMS2_00102 - AC005995.3(PMS2):c.1237_1239delAAA chr7 5800330 5800331 MMR_PMS2_00042 - AC005995.3(PMS2):c.1306dupA chr7 5800228 5800229 MMR_PMS2_00116 - AC005995.3(PMS2):c.1408C>T chr7 5800225 5800226 MMR_PMS2_00068 - AC005995.3(PMS2):c.1411C>T chr7 5800199 5800200 MMR_PMS2_00081 - AC005995.3(PMS2):c.1437C>G chr7 5800182 5800183 MMR_PMS2_00138 - AC005995.3(PMS2):c.1454C>A chr7 5800148 5800149 MMR_PMS2_00082 - AC005995.3(PMS2):c.1488C>T chr7 5800130 5800131 MMR_PMS2_00061 - AC005995.3(PMS2):c.1506T>A chr7 5800128 5800130 MMR_PMS2_00128 - AC005995.3(PMS2):c.1507_1508delinsGG chr7 5800117 5800118 MMR_PMS2_00129 - AC005995.3(PMS2):c.1519A>T chr7 5800114 5800115 MMR_PMS2_00088 - AC005995.3(PMS2):c.1522A>C chr7 5800110 5800111 MMR_PMS2_00118 - AC005995.3(PMS2):c.1526C>A chr7 5800106 5800107 MMR_PMS2_00062 - AC005995.3(PMS2):c.1530C>A chr7 5800105 5800106 MMR_PMS2_00139 - AC005995.3(PMS2):c.1531A>G chr7 5800103 5800105 MMR_PMS2_00140 - AC005995.3(PMS2):c.1532_1533delinsAC chr7 5800098 5800100 MMR_PMS2_00130 - AC005995.3(PMS2):c.1537_1538delinsGA chr7 5800080 5800081 MMR_PMS2_00146 - AC005995.3(PMS2):c.1556A>G chr7 5800077 5800078 MMR_PMS2_00174 - AC005995.3(PMS2):c.1559C>T chr7 5800069 5800070 MMR_PMS2_00131 - AC005995.3(PMS2):c.1567T>A chr7 5800065 5800066 MMR_PMS2_00119 - AC005995.3(PMS2):c.1571C>A chr7 5800060 5800061 MMR_PMS2_00063 - AC005995.3(PMS2):c.1576G>A chr7 5800058 5800059 MMR_PMS2_00064 - AC005995.3(PMS2):c.1578C>A chr7 5800018 5800019 MMR_PMS2_00120 - AC005995.3(PMS2):c.1618C>A chr7 5800015 5800016 MMR_PMS2_00028 - AC005995.3(PMS2):c.1621A>G chr7 5799948 5799949 MMR_PMS2_00050 - AC005995.3(PMS2):c.1688G>A chr7 5799948 5799949 MMR_PMS2_00053 - AC005995.3(PMS2):c.1688G>T chr7 5799925 5799926 MMR_PMS2_00027 - AC005995.3(PMS2):c.1711C>A chr7 5799922 5799923 MMR_PMS2_00043 - AC005995.3(PMS2):c.1714G>A chr7 5799919 5799920 MMR_PMS2_00141 - AC005995.3(PMS2):c.1717A>T chr7 5799906 5799907 MMR_PMS2_00055 - AC005995.3(PMS2):c.1730dupA chr7 5799904 5799905 MMR_PMS2_00054 - AC005995.3(PMS2):c.1732C>T chr7 5799903 5799904 MMR_PMS2_00056 - AC005995.3(PMS2):c.1733G>T chr7 5799895 5799896 MMR_PMS2_00105 - AC005995.3(PMS2):c.1741A>G chr7 5799892 5799893 MMR_PMS2_00077 - AC005995.3(PMS2):c.1744G>A chr7 5799889 5799890 MMR_PMS2_00078 - AC005995.3(PMS2):c.1747G>A chr7 5799883 5799884 MMR_PMS2_00097 - AC005995.3(PMS2):c.1753C>A chr7 5799876 5799878 MMR_PMS2_00132 - AC005995.3(PMS2):c.1759_1760delinsGA chr7 5799875 5799877 MMR_PMS2_00133 - AC005995.3(PMS2):c.1760_1761delinsCG chr7 5799868 5799869 MMR_PMS2_00089 - AC005995.3(PMS2):c.1768A>C chr7 5799868 5799869 MMR_PMS2_00090 - AC005995.3(PMS2):c.1768delA chr7 5799862 5799863 MMR_PMS2_00069 - AC005995.3(PMS2):c.1774C>T chr7 5799856 5799857 MMR_PMS2_00098 - AC005995.3(PMS2):c.1780T>G chr7 5799854 5799855 MMR_PMS2_00175 - AC005995.3(PMS2):c.1782A>T chr7 5799847 5799848 MMR_PMS2_00142 - AC005995.3(PMS2):c.1789A>T chr7 5799845 5799846 MMR_PMS2_00144 - AC005995.3(PMS2):c.1791T>C chr7 5799843 5799844 MMR_PMS2_00071 - AC005995.3(PMS2):c.1793A>C chr7 5799842 5799843 MMR_PMS2_00072 - AC005995.3(PMS2):c.1794G>A chr7 5799842 5799843 MMR_PMS2_00070 - AC005995.3(PMS2):c.1794G>C chr7 5799840 5799842 MMR_PMS2_00065 - AC005995.3(PMS2):c.1795_1796delinsCC chr7 5799838 5799839 MMR_PMS2_00109 - AC005995.3(PMS2):c.1798A>C chr7 5799836 5799837 MMR_PMS2_00110 - AC005995.3(PMS2):c.1800G>T chr7 5799834 5799835 MMR_PMS2_00134 - AC005995.3(PMS2):c.1802C>T chr7 5799831 5799832 MMR_PMS2_00044 - AC005995.3(PMS2):c.1805C>G chr7 5799826 5799827 MMR_PMS2_00073 - AC005995.3(PMS2):c.1810C>T chr7 5799824 5799825 MMR_PMS2_00074 - AC005995.3(PMS2):c.1812G>A chr7 5799814 5799815 MMR_PMS2_00045 - AC005995.3(PMS2):c.1822G>T chr7 5799812 5799813 MMR_PMS2_00046 - AC005995.3(PMS2):c.1824T>C chr7 5799805 5799806 MMR_PMS2_00091 - AC005995.3(PMS2):c.1831dupA chr7 5799799 5799800 MMR_PMS2_00106 - AC005995.3(PMS2):c.1837A>T chr7 5799796 5799797 MMR_PMS2_00107 - AC005995.3(PMS2):c.1840A>T chr7 5799783 5799784 MMR_PMS2_00099 - AC005995.3(PMS2):c.1853T>G chr7 5799770 5799771 MMR_PMS2_00029 - AC005995.3(PMS2):c.1866G>A chr7 5799766 5799767 MMR_PMS2_00136 - AC005995.3(PMS2):c.1870T>G chr7 5799762 5799763 MMR_PMS2_00101 - AC005995.3(PMS2):c.1874T>A chr7 5799754 5799755 MMR_PMS2_00058 - AC005995.3(PMS2):c.1882C>T chr7 5799751 5799752 MMR_PMS2_00092 - AC005995.3(PMS2):c.1885A>T chr7 5799738 5799739 MMR_PMS2_00083 - AC005995.3(PMS2):c.1898A>T chr7 5799709 5799710 MMR_PMS2_00075 - AC005995.3(PMS2):c.1927C>T chr7 5799705 5799706 MMR_PMS2_00060 - AC005995.3(PMS2):c.1931A>T chr7 5799684 5799685 MMR_PMS2_00108 - AC005995.3(PMS2):c.1952A>G chr7 5799682 5799683 MMR_PMS2_00093 - AC005995.3(PMS2):c.1954A>T chr7 5799680 5799681 MMR_PMS2_00094 - AC005995.3(PMS2):c.1956T>G chr7 5799679 5799680 MMR_PMS2_00066 - AC005995.3(PMS2):c.1957T>G chr7 5799624 5799625 MMR_PMS2_00153 - AC005995.3(PMS2):c.2006+6G>A chr7 5795873 5795874 MMR_PMS2_00155 - AC005995.3(PMS2):c.2007-11T>C chr7 5795869 5795870 MMR_PMS2_00154 - AC005995.3(PMS2):c.2007-7C>T chr7 5795866 5795867 MMR_PMS2_00151 - AC005995.3(PMS2):c.2007-4G>A chr7 5795863 5795864 MMR_PMS2_00152 - AC005995.3(PMS2):c.2007-1G>A chr7 5795850 5795851 MMR_PMS2_00160 - AC005995.3(PMS2):c.2019T>G chr7 5795834 5795835 MMR_PMS2_00158 - AC005995.3(PMS2):c.2035A>T chr7 5795832 5795833 MMR_PMS2_00159 - AC005995.3(PMS2):c.2037T>G chr7 5795756 5795757 MMR_PMS2_00157 - AC005995.3(PMS2):c.2113G>A chr7 5791557 5791559 MMR_PMS2_00018 - AC005995.3(PMS2):c.2184_2185delTC chr7 5791546 5791551 MMR_PMS2_00163 - AC005995.3(PMS2):c.2192_2196delTAACT chr7 5791496 5791500 MMR_PMS2_00164 - AC005995.3(PMS2):c.2243_2246delAGAA chr7 5790580 5790581 MMR_PMS2_00167 - AC005995.3(PMS2):c.2324A>G chr7 5790564 5790565 MMR_PMS2_00171 - AC005995.3(PMS2):c.2340C>T chr7 5790540 5790544 MMR_PMS2_00112 - AC005995.3(PMS2):c.2361_2364delCTTC chr7 5790514 5790515 MMR_PMS2_00161 - AC005995.3(PMS2):c.2390T>G chr7 5790500 5790501 MMR_PMS2_00166 - AC005995.3(PMS2):c.2404C>T chr7 5786393 5786394 MMR_PMS2_00162 - AC005995.3(PMS2):c.2466T>C chr7 5786289 5786290 MMR_PMS2_00113 - AC005995.3(PMS2):c.2570G>C chr7 5786253 5786254 MMR_PMS2_00024 - AC005995.3(PMS2):c.*17G>C chr7 5786178 5786179 MMR_PMS2_00026 - AC005995.3(PMS2):c.*92dupA chr1 21581225 21581226 ALPL_g.63C>T + NM000478.3(ALPL):g.63C>T chr1 21625896 21625897 ALPL_c.17T>A + NM000478.3(ALPL):c.17T>A chr1 21625929 21625930 ALPL_c.50C>T + NM000478.3(ALPL):c.50C>T chr1 21632445 21632446 ALPL_c.83A>G + NM000478.3(ALPL):c.83A>G chr1 21632460 21632461 ALPL_c.98C>T + NM000478.3(ALPL):c.98C>T chr1 21632472 21632473 ALPL_c.110T>C + NM000478.3(ALPL):c.110T>C chr1 21632481 21632482 ALPL_c.119C>T + NM000478.3(ALPL):c.119C>T chr1 21632513 21632514 ALPL_c.151G>T + NM000478.3(ALPL):c.151G>T chr1 21632897 21632898 ALPL_c.184A>T + NM000478.3(ALPL):c.184A>T chr1 21632897 21632898 ALPL_c.184A>G + NM000478.3(ALPL):c.184A>G chr1 21632899 21632900 ALPL_c.186G>C + NM000478.3(ALPL):c.186G>C chr1 21632900 21632901 ALPL_c.187G>C + NM000478.3(ALPL):c.187G>C chr1 21632901 21632902 ALPL_c.188G>T + NM000478.3(ALPL):c.188G>T chr1 21632916 21632917 ALPL_c.203C>T + NM000478.3(ALPL):c.203C>T chr1 21632924 21632925 ALPL_c.211C>T + NM000478.3(ALPL):c.211C>T chr1 21632924 21632925 ALPL_c.211C>A + NM000478.3(ALPL):c.211C>A chr1 21632925 21632926 ALPL_c.212G>C + NM000478.3(ALPL):c.212G>C chr1 21632925 21632926 ALPL_c.212G>A + NM000478.3(ALPL):c.212G>A chr1 21632932 21632933 ALPL_c.219C>T + NM000478.3(ALPL):c.219C>T chr1 21632936 21632937 ALPL_c.223G>A + NM000478.3(ALPL):c.223G>A chr1 21632940 21632941 ALPL_c.227A>G + NM000478.3(ALPL):c.227A>G chr1 21634906 21634907 ALPL_c.298-2A>G + NM000478.3(ALPL):c.298-2A>G chr1 21634909 21634910 ALPL_c.299C>T + NM000478.3(ALPL):c.299C>T chr1 21634913 21634922 ALPL_c.303_311del + NM000478.3(ALPL):c.303_311del chr1 21634933 21634934 ALPL_c.323C>T + NM000478.3(ALPL):c.323C>T chr1 21634941 21634942 ALPL_c.331G>A + NM000478.3(ALPL):c.331G>A chr1 21634944 21634945 ALPL_c.334G>A + NM000478.3(ALPL):c.334G>A chr1 21634950 21634951 ALPL_c.340G>A + NM000478.3(ALPL):c.340G>A chr1 21634951 21634952 ALPL_c.341C>G + NM000478.3(ALPL):c.341C>G chr1 21634958 21634960 ALPL_c.348_349insACCGTC + NM000478.3(ALPL):c.348_349insACCGTC chr1 21634956 21634957 ALPL_c.346G>T + NM000478.3(ALPL):c.346G>T chr1 21634956 21634957 ALPL_c.346G>A + NM000478.3(ALPL):c.346G>A chr1 21634968 21634969 ALPL_c.358G>A + NM000478.3(ALPL):c.358G>A chr1 21634978 21634979 ALPL_c.368C>A + NM000478.3(ALPL):c.368C>A chr1 21634992 21634993 ALPL_c.382G>A + NM000478.3(ALPL):c.382G>A chr1 21634995 21634996 ALPL_c.385G>A + NM000478.3(ALPL):c.385G>A chr1 21634998 21635002 ALPL_c.388_391delGTAA + NM000478.3(ALPL):c.388_391delGTAA chr1 21634999 21635000 ALPL_c.389delT + NM000478.3(ALPL):c.389delT chr1 21635002 21635003 ALPL_c.392delG + NM000478.3(ALPL):c.392delG chr1 21635004 21635005 ALPL_c.394G>A + NM000478.3(ALPL):c.394G>A chr1 21635005 21635006 ALPL_c.395C>T + NM000478.3(ALPL):c.395C>T chr1 21635010 21635012 ALPL_c.400_401delinsCA + NM000478.3(ALPL):c.400_401delinsCA chr1 21635011 21635012 ALPL_c.401C>A + NM000478.3(ALPL):c.401C>A chr1 21635016 21635017 ALPL_c.406C>T + NM000478.3(ALPL):c.406C>T chr1 21635017 21635018 ALPL_c.407G>A + NM000478.3(ALPL):c.407G>A chr1 21635032 21635033 ALPL_c.422C>T + NM000478.3(ALPL):c.422C>T chr1 21635052 21635053 ALPL_c.442A>G + NM000478.3(ALPL):c.442A>G chr1 21635053 21635054 ALPL_c.443C>T + NM000478.3(ALPL):c.443C>T chr1 21635846 21635847 ALPL_c.480delT + NM000478.3(ALPL):c.480delT chr1 21635850 21635851 ALPL_c.484G>A + NM000478.3(ALPL):c.484G>A chr1 21635851 21635852 ALPL_c.485G>T + NM000478.3(ALPL):c.485G>T chr1 21635866 21635867 ALPL_c.500C>T + NM000478.3(ALPL):c.500C>T chr1 21635874 21635875 ALPL_c.508A>G + NM000478.3(ALPL):c.508A>G chr1 21635877 21635878 ALPL_c.511C>T + NM000478.3(ALPL):c.511C>T chr1 21635878 21635879 ALPL_c.512A>G + NM000478.3(ALPL):c.512A>G chr1 21635892 21635893 ALPL_c.526G>A + NM000478.3(ALPL):c.526G>A chr1 21635895 21635896 ALPL_c.529G>A + NM000478.3(ALPL):c.529G>A chr1 21635901 21635902 ALPL_c.535G>A + NM000478.3(ALPL):c.535G>A chr1 21635908 21635909 ALPL_c.542C>T + NM000478.3(ALPL):c.542C>T chr1 21635910 21635911 ALPL_c.544delG + NM000478.3(ALPL):c.544delG chr1 21635916 21635917 ALPL_c.550C>T + NM000478.3(ALPL):c.550C>T chr1 21635933 21635934 ALPL_c.567C>A + NM000478.3(ALPL):c.567C>A chr1 21635934 21635937 ALPL_c.568_570delAAC + NM000478.3(ALPL):c.568_570delAAC chr1 21635937 21635938 ALPL_c.571G>A + NM000478.3(ALPL):c.571G>A chr1 21635938 21635939 ALPL_c.572A>G + NM000478.3(ALPL):c.572A>G chr1 21635941 21635942 ALPL_c.575T>C + NM000478.3(ALPL):c.575T>C chr1 21635943 21635944 ALPL_c.577C>G + NM000478.3(ALPL):c.577C>G chr1 21635968 21635969 ALPL_c.602G>A + NM000478.3(ALPL):c.602G>A chr1 21635975 21635976 ALPL_c.609C>G + NM000478.3(ALPL):c.609C>G chr1 21635986 21635987 ALPL_c.620A>C + NM000478.3(ALPL):c.620A>C chr1 21635997 21635998 ALPL_c.631A>G + NM000478.3(ALPL):c.631A>G chr1 21636000 21636001 ALPL_c.634A>T + NM000478.3(ALPL):c.634A>T chr1 21636015 21636016 ALPL_c.648+1G>T + NM000478.3(ALPL):c.648+1G>T chr1 21636015 21636016 ALPL_c.648+1G>A + NM000478.3(ALPL):c.648+1G>A chr1 21639899 21639902 ALPL_c.649-1_649-3delinsAA + NM000478.3(ALPL):c.649-1_649-3delinsAA chr1 21639906 21639907 ALPL_c.653T>C + NM000478.3(ALPL):c.653T>C chr1 21639912 21639913 ALPL_c.659G>T + NM000478.3(ALPL):c.659G>T chr1 21639912 21639913 ALPL_c.659G>C + NM000478.3(ALPL):c.659G>C chr1 21639915 21639916 ALPL_c.662delG + NM000478.3(ALPL):c.662delG chr1 21639915 21639916 ALPL_c.662G>T + NM000478.3(ALPL):c.662G>T chr1 21639920 21639921 ALPL_c.667C>T + NM000478.3(ALPL):c.667C>T chr1 21639921 21639922 ALPL_c.668G>A + NM000478.3(ALPL):c.668G>A chr1 21639923 21639924 ALPL_c.670A>G + NM000478.3(ALPL):c.670A>G chr1 21639930 21639931 ALPL_c.677T>C + NM000478.3(ALPL):c.677T>C chr1 21639957 21639958 ALPL_c.704A>G + NM000478.3(ALPL):c.704A>G chr1 21639991 21639992 ALPL_c.738G>T + NM000478.3(ALPL):c.738G>T chr1 21639999 21640000 ALPL_c.746G>T + NM000478.3(ALPL):c.746G>T chr1 21640044 21640045 ALPL_c.791A>G + NM000478.3(ALPL):c.791A>G chr1 21642107 21642113 ALPL_c.797_802del + NM000478.3(ALPL):c.797_802del chr1 21642119 21642120 ALPL_c.809G>A + NM000478.3(ALPL):c.809G>A chr1 21642124 21642125 ALPL_c.814C>T + NM000478.3(ALPL):c.814C>T chr1 21642125 21642126 ALPL_c.815G>T + NM000478.3(ALPL):c.815G>T chr1 21642125 21642126 ALPL_c.815G>A + NM000478.3(ALPL):c.815G>A chr1 21642134 21642135 ALPL_c.824T>C + NM000478.3(ALPL):c.824T>C chr1 21642163 21642165 ALPL_c.853_854insGATC + NM000478.3(ALPL):c.853_854insGATC chr1 21642177 21642178 ALPL_c.862+5G>A + NM000478.3(ALPL):c.862+5G>A chr1 21645465 21645466 ALPL_c.865C>T + NM000478.3(ALPL):c.865C>T chr1 21645471 21645472 ALPL_c.871G>A + NM000478.3(ALPL):c.871G>A chr1 21645471 21645472 ALPL_c.871G>T + NM000478.3(ALPL):c.871G>T chr1 21645474 21645475 ALPL_c.874C>A + NM000478.3(ALPL):c.874C>A chr1 21645476 21645482 ALPL_c.876_881delAGGGGA + NM000478.3(ALPL):c.876_881delAGGGGA chr1 21645480 21645481 ALPL_c.880G>T + NM000478.3(ALPL):c.880G>T chr1 21645481 21645482 ALPL_c.881A>C + NM000478.3(ALPL):c.881A>C chr1 21645483 21645484 ALPL_c.883A>G + NM000478.3(ALPL):c.883A>G chr1 21645484 21645485 ALPL_c.884T>C + NM000478.3(ALPL):c.884T>C chr1 21645485 21645486 ALPL_c.885G>A + NM000478.3(ALPL):c.885G>A chr1 21645489 21645490 ALPL_c.889T>G + NM000478.3(ALPL):c.889T>G chr1 21645492 21645493 ALPL_c.892G>A + NM000478.3(ALPL):c.892G>A chr1 21645496 21645497 ALPL_c.896T>C + NM000478.3(ALPL):c.896T>C chr1 21645517 21645518 ALPL_c.917A>T + NM000478.3(ALPL):c.917A>T chr1 21645519 21645520 ALPL_c.919C>T + NM000478.3(ALPL):c.919C>T chr1 21645520 21645521 ALPL_c.920C>T + NM000478.3(ALPL):c.920C>T chr1 21645528 21645530 ALPL_c.928_929delTC + NM000478.3(ALPL):c.928_929delTC chr1 21645531 21645532 ALPL_c.931G>A + NM000478.3(ALPL):c.931G>A chr1 21645562 21645563 ALPL_c.962delG + NM000478.3(ALPL):c.962delG chr1 21645576 21645577 ALPL_c.976G>C + NM000478.3(ALPL):c.976G>C chr1 21645577 21645578 ALPL_c.977G>T + NM000478.3(ALPL):c.977G>T chr1 21645581 21645584 ALPL_c.981_983delCTT + NM000478.3(ALPL):c.981_983delCTT chr1 21645579 21645580 ALPL_c.979T>G + NM000478.3(ALPL):c.979T>G chr1 21645579 21645581 ALPL_c.979_980delinsGG + NM000478.3(ALPL):c.979_980delinsGG chr1 21645579 21645580 ALPL_c.979T>C + NM000478.3(ALPL):c.979T>C chr1 21645582 21645583 ALPL_c.982T>A + NM000478.3(ALPL):c.982T>A chr1 21645599 21645600 ALPL_c.997+2T>A + NM000478.3(ALPL):c.997+2T>A chr1 21645599 21645600 ALPL_c.997+2T>G + NM000478.3(ALPL):c.997+2T>G chr1 21645600 21645601 ALPL_c.997+3A>C + NM000478.3(ALPL):c.997+3A>C chr1 21647530 21647531 ALPL_c.998-1G>T + NM000478.3(ALPL):c.998-1G>T chr1 21647534 21647535 ALPL_c.1001G>A + NM000478.3(ALPL):c.1001G>A chr1 21647548 21647549 ALPL_c.1015G>A + NM000478.3(ALPL):c.1015G>A chr1 21647549 21647550 ALPL_c.1016G>A + NM000478.3(ALPL):c.1016G>A chr1 21647575 21647576 ALPL_c.1042G>A + NM000478.3(ALPL):c.1042G>A chr1 21647577 21647589 ALPL_c.1044_1055del + NM000478.3(ALPL):c.1044_1055del chr1 21647595 21647596 ALPL_c.1062G>C + NM000478.3(ALPL):c.1062G>C chr1 21647598 21647599 ALPL_c.1065G>A + NM000478.3(ALPL):c.1065G>A chr1 21647634 21647637 ALPL_c.1101_1103delCTC + NM000478.3(ALPL):c.1101_1103delCTC chr1 21647645 21647646 ALPL_c.1112C>T + NM000478.3(ALPL):c.1112C>T chr1 21647653 21647654 ALPL_c.1120G>A + NM000478.3(ALPL):c.1120G>A chr1 21647663 21647664 ALPL_c.1130C>T + NM000478.3(ALPL):c.1130C>T chr1 21647666 21647667 ALPL_c.1133A>T + NM000478.3(ALPL):c.1133A>T chr1 21647675 21647676 ALPL_c.1142A>G + NM000478.3(ALPL):c.1142A>G chr1 21647677 21647678 ALPL_c.1144G>A + NM000478.3(ALPL):c.1144G>A chr1 21647699 21647700 ALPL_c.1166C>T + NM000478.3(ALPL):c.1166C>T chr1 21647704 21647705 ALPL_c.1171C>T + NM000478.3(ALPL):c.1171C>T chr1 21647705 21647706 ALPL_c.1172G>A + NM000478.3(ALPL):c.1172G>A chr1 21647708 21647709 ALPL_c.1175G>C + NM000478.3(ALPL):c.1175G>C chr1 21647715 21647716 ALPL_c.1182T>C + NM000478.3(ALPL):c.1182T>C chr1 21648325 21648326 ALPL_c.1195G>T + NM000478.3(ALPL):c.1195G>T chr1 21648326 21648327 ALPL_c.1196C>T + NM000478.3(ALPL):c.1196C>T chr1 21648329 21648330 ALPL_c.1199C>T + NM000478.3(ALPL):c.1199C>T chr1 21648344 21648346 ALPL_c.1214_1215delCA + NM000478.3(ALPL):c.1214_1215delCA chr1 21648346 21648350 ALPL_c.1216_1219delGACA + NM000478.3(ALPL):c.1216_1219delGACA chr1 21648347 21648348 ALPL_c.1217A>G + NM000478.3(ALPL):c.1217A>G chr1 21648358 21648359 ALPL_c.1228T>C + NM000478.3(ALPL):c.1228T>C chr1 21648361 21648362 ALPL_c.1231A>G + NM000478.3(ALPL):c.1231A>G chr1 21648370 21648371 ALPL_c.1240C>A + NM000478.3(ALPL):c.1240C>A chr1 21648380 21648381 ALPL_c.1250A>G + NM000478.3(ALPL):c.1250A>G chr1 21648386 21648387 ALPL_c.1256delC + NM000478.3(ALPL):c.1256delC chr1 21648388 21648389 ALPL_c.1258G>A + NM000478.3(ALPL):c.1258G>A chr1 21648398 21648399 ALPL_c.1268T>C + NM000478.3(ALPL):c.1268T>C chr1 21648400 21648401 ALPL_c.1270G>A + NM000478.3(ALPL):c.1270G>A chr1 21648406 21648407 ALPL_c.1276G>T + NM000478.3(ALPL):c.1276G>T chr1 21648407 21648408 ALPL_c.1277G>A + NM000478.3(ALPL):c.1277G>A chr1 21648412 21648413 ALPL_c.1282C>T + NM000478.3(ALPL):c.1282C>T chr1 21648413 21648414 ALPL_c.1283G>C + NM000478.3(ALPL):c.1283G>C chr1 21648415 21648416 ALPL_c.1285G>A + NM000478.3(ALPL):c.1285G>A chr1 21648436 21648437 ALPL_c.1306T>C + NM000478.3(ALPL):c.1306T>C chr1 21649204 21649205 ALPL_c.1333T>C + NM000478.3(ALPL):c.1333T>C chr1 21649220 21649221 ALPL_c.1349G>A + NM000478.3(ALPL):c.1349G>A chr1 21649219 21649220 ALPL_c.1348C>T + NM000478.3(ALPL):c.1348C>T chr1 21649225 21649226 ALPL_c.1354G>A + NM000478.3(ALPL):c.1354G>A chr1 21649232 21649233 ALPL_c.1361A>G + NM000478.3(ALPL):c.1361A>G chr1 21649234 21649235 ALPL_c.1363G>A + NM000478.3(ALPL):c.1363G>A chr1 21649235 21649236 ALPL_c.1364G>A + NM000478.3(ALPL):c.1364G>A chr1 21649237 21649238 ALPL_c.1366G>T + NM000478.3(ALPL):c.1366G>T chr1 21649237 21649238 ALPL_c.1366G>A + NM000478.3(ALPL):c.1366G>A chr1 21649246 21649247 ALPL_c.1375G>A + NM000478.3(ALPL):c.1375G>A chr1 21649246 21649247 ALPL_c.1375G>T + NM000478.3(ALPL):c.1375G>T chr1 21649267 21649268 ALPL_c.1396C>T + NM000478.3(ALPL):c.1396C>T chr1 21649271 21649272 ALPL_c.1400T>C + NM000478.3(ALPL):c.1400T>C chr1 21649273 21649274 ALPL_c.1402G>A + NM000478.3(ALPL):c.1402G>A chr1 21649288 21649289 ALPL_c.1417G>A + NM000478.3(ALPL):c.1417G>A chr1 21649297 21649298 ALPL_c.1426G>A + NM000478.3(ALPL):c.1426G>A chr1 21649298 21649299 ALPL_c.1427A>G + NM000478.3(ALPL):c.1427A>G chr1 21649304 21649305 ALPL_c.1433A>T + NM000478.3(ALPL):c.1433A>T chr1 21649315 21649317 ALPL_c.1444_1445insC + NM000478.3(ALPL):c.1444_1445insC chr1 21649339 21649340 ALPL_c.1468A>T + NM000478.3(ALPL):c.1468A>T chr1 21649342 21649343 ALPL_c.1471G>A + NM000478.3(ALPL):c.1471G>A chr1 21649342 21649343 ALPL_c.1471delG + NM000478.3(ALPL):c.1471delG chr1 21649430 21649431 ALPL_c.1559delT + NM000478.3(ALPL):c.1559delT chr2 31717607 31717608 reichardt_2 - L03843.1:g.756T>C chr2 31717532 31717533 reichardt_3 - L03843.1:g.832C>T chr2 31717478 31717479 reichardt_4 - L03843.1:g.886C>G chr2 31717476 31717477 reichardt_5 - L03843.1:g.888G>A chr2 31717470 31717471 reichardt_6 - L03843.1:g.894G>A chr2 31717407 31717408 reichardt_7 - L03843.1:g.957C>T chr2 31717356 31717357 reichardt_8 - L03843.1:g.1008C>G chr2 31666165 31666166 reichardt_9 - L03843.1:g.1902C>T chr2 31666143 31666144 reichardt_10 - L03843.1:g.1924C>G chr2 31666073 31666074 reichardt_11 - L03843.1:g.1994delT chr2 31666045 31666046 reichardt_12 - L03843.1:g.2022G>A chr2 31662979 31662980 reichardt_13 - L03843.1:g.2244C>G chr2 31718269 31718270 reichardt_14 - L03843.1:g.95A>C chr2 31718267 31718268 reichardt_15 - L03843.1:g.97A>T chr2 31718002 31718003 reichardt_16 - L03843.1:g.362G>A chr2 31717834 31717835 reichardt_17 - L03843.1:g.528C>A chr2 31717681 31717682 reichardt_18 - L03843.1:g.682G>C chr2 31717621 31717622 reichardt_19 - L03843.1:g.742C>A chr2 31717459 31717460 reichardt_20 - L03843.1:g.905C>T chr2 31717438 31717439 reichardt_21 - L03843.1:g.926C>T chr2 31717414 31717415 reichardt_22 - L03843.1:g.950C>T chr2 31717412 31717413 reichardt_23 - L03843.1:g.952G>A chr2 31717411 31717412 reichardt_24 - L03843.1:g.953G>A chr2 31717363 31717364 reichardt_25 - L03843.1:g.1001C>G chr2 31717348 31717349 reichardt_26 - L03843.1:g.1016C>T chr2 31717327 31717328 reichardt_27 - L03843.1:g.1037C>G chr2 31717325 31717326 reichardt_28 - L03843.1:g.1039T>C chr2 31717320 31717321 reichardt_29 - L03843.1:g.1044G>A chr2 31717317 31717318 reichardt_30 - L03843.1:g.1047G>T chr2 31717303 31717304 reichardt_31 - L03843.1:g.1061A>C chr2 31670315 31670316 reichardt_32 - L03843.1:g.1395A>C chr2 31668235 31668236 reichardt_33 - L03843.1:g.1545A>T chr2 31666179 31666180 reichardt_34 - L03843.1:g.1888A>C chr2 31666175 31666176 reichardt_35 - L03843.1:g.1892G>C chr2 31666140 31666141 reichardt_36 - L03843.1:g.1927C>T chr2 31666029 31666030 reichardt_37 - L03843.1:g.2038T>C chr2 31662657 31662658 reichardt_38 - L03843.1:g.2584T>C chr2 31662095 31662096 reichardt_39 - L03843.1:g.3146A>T chr2 31662067 31662068 reichardt_40 - L03843.1:g.3174A>G chr2 31661560 31661561 reichardt_41 - L03843.1:g.3681A>C chr2 31661364 31661365 reichardt_42 - L03843.1:g.3877G>A chr2 31661073 31661074 reichardt_43 - L03843.1:g.4168A>G chr14 72707405 72707406 ADM_1 + AF109907.1(PSEN1):g.88906C>T chr14 72710115 72710116 ADM_2 + AF109907.1(PSEN1):g.91616T>C chr14 72707413 72707414 ADM_3 + AF109907.1(PSEN1):g.88914G>C chr14 72707455 72707456 ADM_5 + AF109907.1(PSEN1):g.88956G>T chr14 72707508 72707509 ADM_6 + AF109907.1(PSEN1):g.89009delG chr14 72710031 72710032 ADM_7 + AF109907.1(PSEN1):g.91532A>G chr14 72710030 72710031 ADM_8 + AF109907.1(PSEN1):g.91531T>C chr14 72710037 72710038 ADM_9 + AF109907.1(PSEN1):g.91538C>T chr14 72710047 72710048 ADM_10 + AF109907.1(PSEN1):g.91548A>T chr14 72710045 72710046 ADM_11 + AF109907.1(PSEN1):g.91546G>A chr14 72710090 72710091 ADM_12 + AF109907.1(PSEN1):g.91591A>G chr14 72710104 72710105 ADM_13 + AF109907.1(PSEN1):g.91605G>A chr14 72710103 72710104 ADM_14 + AF109907.1(PSEN1):g.91604T>C chr14 72710102 72710103 ADM_15 + AF109907.1(PSEN1):g.91603A>G chr14 72710114 72710115 ADM_16 + AF109907.1(PSEN1):g.91615A>T chr14 72710125 72710126 ADM_17 + AF109907.1(PSEN1):g.91626G>C chr14 72710123 72710124 ADM_18 + AF109907.1(PSEN1):g.91624A>T chr14 72710123 72710124 ADM_19 + AF109907.1(PSEN1):g.91624A>G chr14 72723320 72723321 ADM_20 + AF109907.1(PSEN1):g.104770A>G chr14 72723319 72723320 ADM_21 + AF109907.1(PSEN1):g.104769C>T chr14 72729107 72729108 ADM_22 + AF109907.1(PSEN1):g.110556A>C chr14 72729181 72729182 ADM_23 + AF109907.1(PSEN1):g.110630G>T chr14 72729193 72729194 ADM_24 + AF109907.1(PSEN1):g.110642T>C chr14 72729246 72729247 ADM_25 + AF109907.1(PSEN1):g.110695G>A chr14 72729247 72729248 ADM_26 + AF109907.1(PSEN1):g.110696C>T chr14 72729253 72729254 ADM_27 + AF109907.1(PSEN1):g.110702T>C chr14 72729259 72729260 ADM_28 + AF109907.1(PSEN1):g.110708T>C chr14 72729292 72729293 ADM_29 + AF109907.1(PSEN1):g.110741C>A chr14 72729304 72729305 ADM_30 + AF109907.1(PSEN1):g.110753T>C chr14 72734500 72734501 ADM_31 + AF109907.1(PSEN1):g.115949C>T chr14 72734507 72734508 ADM_32 + AF109907.1(PSEN1):g.115956G>C chr14 72734508 72734509 ADM_33 + AF109907.1(PSEN1):g.115957T>C chr14 72734512 72734513 ADM_34 + AF109907.1(PSEN1):g.115961C>T chr14 72734520 72734521 ADM_35 + AF109907.1(PSEN1):g.115969C>T chr14 72734526 72734527 ADM_36 + AF109907.1(PSEN1):g.115975C>G chr14 72734527 72734528 ADM_37 + AF109907.1(PSEN1):g.115976G>A chr14 72734554 72734555 ADM_38 + AF109907.1(PSEN1):g.116003G>C chr14 72734560 72734561 ADM_39 + AF109907.1(PSEN1):g.116009A>C chr14 72734560 72734561 ADM_40 + AF109907.1(PSEN1):g.116009A>G chr14 72734566 72734567 ADM_41 + AF109907.1(PSEN1):g.116015T>G chr14 72734575 72734576 ADM_42 + AF109907.1(PSEN1):g.116024C>T chr14 72734577 72734578 ADM_43 + AF109907.1(PSEN1):g.116026C>G chr14 72753589 72753590 ADM_44 + AF109907.1(PSEN1):g.135032G>A chr14 72753607 72753608 ADM_45 + AF109907.1(PSEN1):g.135050G>C chr14 72753630 72753631 ADM_46 + AF109907.1(PSEN1):g.135073C>G chr14 72753685 72753686 ADM_47 + AF109907.1(PSEN1):g.135128G>A chr14 72755621 72755622 ADM_48 + AF109907.1(PSEN1):g.137065G>C chr1 223378183 223378184 ADM_50 + U50871.1(PSEN2):g.38915G>A chr1 223380038 223380039 ADM_51 + U50871.1(PSEN2):g.40770A>T chr1 223380058 223380059 ADM_52 + U50871.1(PSEN2):g.40790G>A chr1 223383412 223383413 ADM_53 + U50871.1(PSEN2):g.44147A>G chr21 26191809 26191810 ADM_55 - D87675.1(APP):g.[..g.278645G>T..] chr21 26191808 26191809 ADM_55 - D87675.1(APP):g.[..g.278646A>C..] chr21 26186040 26186041 ADM_56 - D87675.1(APP):g.284414C>G chr21 26185969 26185970 ADM_57 - D87675.1(APP):g.284485A>G chr21 26185965 26185966 ADM_58 - D87675.1(APP):g.284489T>G chr21 26185966 26185967 ADM_59 - D87675.1(APP):g.284488G>A chr21 26185966 26185967 ADM_60 - D87675.1(APP):g.284488G>T chr21 26185947 26185948 ADM_61 - D87675.1(APP):g.284507T>C chr14 72742845 72742846 ADM_63 + AF109907.1(PSEN1):g.124289G>A chr14 72742845 72742846 ADM_64 + AF109907.1(PSEN1):g.124289G>T chr14 72741222 72745778 ADM_65 + AF109907.1(PSEN1):g.122666_127220del chr14 72710054 72710055 ADM_66 + AF109907.1(PSEN1):g.91555G>A chr14 72734539 72734540 ADM_67 + AF109907.1(PSEN1):g.115988A>C chr14 72723344 72723345 ADM_68 + AF109907.1(PSEN1):g.104794T>C chr14 72723338 72723339 ADM_69 + AF109907.1(PSEN1):g.104788C>T chr14 72755652 72755653 ADM_70 + AF109907.1(PSEN1):g.137096C>A chr21 26185972 26185973 ADM_71 - D87675.1(APP):g.284482G>A chr14 72729211 72729212 ADM_72 + AF109907.1(PSEN1):g.110660T>C chr14 72729252 72729253 ADM_73 + AF109907.1(PSEN1):g.110701A>C chr14 72753681 72753682 ADM_74 + AF109907.1(PSEN1):g.135124G>A chr14 72707484 72707485 ADM_75 + AF109907.1(PSEN1):g.88985T>G chr1 223379980 223379981 ADM_76 + U50871.1(PSEN2):g.40712A>C chr1 223383414 223383415 ADM_77 + U50871.1(PSEN2):g.44149G>A chr14 72753670 72753671 ADM_78 + AF109907.1(PSEN1):g.135113A>G chr14 72723337 72723338 ADM_79 + AF109907.1(PSEN1):g.104787T>C chr14 72729180 72729181 ADM_81 + AF109907.1(PSEN1):g.110629G>A chr14 72710103 72710104 ADM_82 + AF109907.1(PSEN1):g.91604T>A chr14 72710127 72710128 ADM_83 + AF109907.1(PSEN1):g.91628C>T chr14 72723350 72723351 ADM_84 + AF109907.1(PSEN1):g.104800T>G chr14 72723327 72723328 ADM_85 + AF109907.1(PSEN1):g.104777G>C chr14 72753625 72753626 ADM_86 + AF109907.1(PSEN1):g.135068G>T chr14 72710125 72710126 ADM_87 + AF109907.1(PSEN1):g.91626G>A chr14 72723329 72723330 ADM_88 + AF109907.1(PSEN1):g.104779T>G chr14 72755651 72755652 ADM_89 + AF109907.1(PSEN1):g.137095C>T chr21 26185966 26185967 ADM_90 - D87675.1(APP):g.284488G>C chr14 72710144 72710145 ADM_91 + AF109907.1(PSEN1):g.91645C>G chr14 72734502 72734503 ADM_92 + AF109907.1(PSEN1):g.115951G>T chr14 72710034 72710035 ADM_93 + AF109907.1(PSEN1):g.91535C>A chr14 72729210 72729211 ADM_94 + AF109907.1(PSEN1):g.110659C>T chr14 72707449 72707450 ADM_95 + AF109907.1(PSEN1):g.88950G>A chr21 26186037 26186038 ADM_96 - D87675.1(APP):g.284417A>G chr21 26185974 26185975 ADM_97 - D87675.1(APP):g.284480C>T chr14 72740846 72746705 ADM_98 + AF109907.1(PSEN1):g.122290_128147del chr14 72710047 72710048 ADM_99 + AF109907.1(PSEN1):g.91548A>C chr14 72723325 72723326 ADM_100 + AF109907.1(PSEN1):g.104775T>G chr14 72753631 72753632 ADM_101 + AF109907.1(PSEN1):g.135074T>C chr14 72707507 72707508 ADM_102 + AF109907.1(PSEN1):g.89008T>C chr14 72707416 72707422 ADM_103 + AF109907.1(PSEN1):g.88917_88922del chr14 72755645 72755646 ADM_104 + AF109907.1(PSEN1):g.[..g.137089G>T..] chr14 72755646 72755647 ADM_104 + AF109907.1(PSEN1):g.[..g.137090C>G..] chr21 26186035 26186036 ADM_105 - D87675.1(APP):g.284419G>A chr14 72707273 72707274 ADM_106 + AF109907.1(PSEN1):g.88774G>A chr14 72710123 72710124 ADM_107 + AF109907.1(PSEN1):g.91624A>C chr14 72710125 72710126 ADM_108 + AF109907.1(PSEN1):g.91626G>T chr14 72710153 72710155 ADM_109 + AF109907.1(PSEN1):g.91654_91655insTTATAT chr14 72723361 72723362 ADM_110 + AF109907.1(PSEN1):g.104811T>C chr14 72723362 72723363 ADM_111 + AF109907.1(PSEN1):g.104812T>C chr14 72723364 72723365 ADM_112 + AF109907.1(PSEN1):g.104814T>C chr14 72729171 72729172 ADM_113 + AF109907.1(PSEN1):g.110620G>A chr14 72729172 72729173 ADM_114 + AF109907.1(PSEN1):g.110621G>C chr14 72729181 72729182 ADM_115 + AF109907.1(PSEN1):g.110630G>A chr14 72729192 72729193 ADM_116 + AF109907.1(PSEN1):g.110641A>C chr14 72729220 72729221 ADM_117 + AF109907.1(PSEN1):g.110669A>G chr14 72734542 72734543 ADM_118 + AF109907.1(PSEN1):g.115991C>G chr14 72748334 72748335 ADM_119 + AF109907.1(PSEN1):g.129777C>T chr14 72748346 72748347 ADM_120 + AF109907.1(PSEN1):g.129789G>A chr14 72748367 72748368 ADM_121 + AF109907.1(PSEN1):g.129810C>A chr14 72753637 72753638 ADM_122 + AF109907.1(PSEN1):g.135080G>T chr14 72755599 72755600 ADM_123 + AF109907.1(PSEN1):g.137043G>T chr14 72755637 72755638 ADM_124 + AF109907.1(PSEN1):g.137081C>A chr14 72755648 72755649 ADM_125 + AF109907.1(PSEN1):g.137092C>T chr14 72755660 72755661 ADM_126 + AF109907.1(PSEN1):g.137104A>G chr14 72748328 72748330 ADM_127 + AF109907.1(PSEN1):g.129771_129772insTCG chr14 72729252 72729253 ADM_128 + AF109907.1(PSEN1):g.110701A>G chr14 72734565 72734566 ADM_129 + AF109907.1(PSEN1):g.116014C>G chr14 72729264 72729265 ADM_131 + AF109907.1(PSEN1):g.110713T>A chr1 223389983 223389984 ADM_132 + U50871.1(PSEN2):g.50718A>C chr21 26185975 26185976 ADM_133 - D87675.1(APP):g.284479A>G chr1 223380005 223380006 ADM_134 + U50871.1(PSEN2):g.40737C>T chr14 72723352 72723353 ADM_135 + AF109907.1(PSEN1):g.104802C>A chr14 72707444 72707445 ADM_136 + AF109907.1(PSEN1):g.88945G>C chr14 72723329 72723330 ADM_137 + AF109907.1(PSEN1):g.104779T>C chr14 72729205 72729206 ADM_138 + AF109907.1(PSEN1):g.110654G>A chr21 26185968 26185969 ADM_139 - D87675.1(APP):g.284486T>C chr21 26185971 26185972 ADM_140 - D87675.1(APP):g.284483T>C chr14 72710116 72710117 ADM_141 + AF109907.1(PSEN1):g.91617T>G chr14 72734536 72734537 ADM_142 + AF109907.1(PSEN1):g.115985T>C chr14 72710148 72710149 ADM_143 + AF109907.1(PSEN1):g.91649A>G chr14 72723330 72723333 ADM_144 + AF109907.1(PSEN1):g.104780_104782delTAT chr14 72729240 72729241 ADM_145 + AF109907.1(PSEN1):g.110689A>T chr14 72729258 72729259 ADM_146 + AF109907.1(PSEN1):g.110707C>G chr14 72729264 72729265 ADM_147 + AF109907.1(PSEN1):g.110713T>C chr14 72734509 72734510 ADM_148 + AF109907.1(PSEN1):g.115958G>T chr14 72753586 72753587 ADM_149 + AF109907.1(PSEN1):g.135029G>T chr14 72753589 72753590 ADM_150 + AF109907.1(PSEN1):g.135032G>T chr14 72710036 72710037 ADM_151 + AF109907.1(PSEN1):g.91537C>T chr14 72734554 72734555 ADM_152 + AF109907.1(PSEN1):g.116003G>A chr21 26186038 26186039 ADM_153 - D87675.1(APP):g.284416G>C chr14 72707434 72707435 ADM_154 + AF109907.1(PSEN1):g.88935G>T chr14 72755637 72755638 ADM_155 + AF109907.1(PSEN1):g.137081C>T chr14 72734532 72734533 ADM_156 + AF109907.1(PSEN1):g.115981C>G chr1 223386208 223386209 ADM_157 + U50871.1(PSEN2):g.46943C>G chr1 223389956 223389957 ADM_158 + U50871.1(PSEN2):g.50691C>T chr21 26185978 26185979 ADM_159 - D87675.1(APP):g.[..g.284476G>A..] chr21 26185970 26185971 ADM_159 - D87675.1(APP):g.[..g.284484G>A..] chr21 26191802 26191803 ADM_160 - D87675.1(APP):g.278652G>A chr14 72723356 72723357 ADM_161 + AF109907.1(PSEN1):g.104806T>C chr21 26191824 26191825 ADM_162 - D87675.1(APP):g.278630G>C chr21 26185977 26185978 ADM_163 - D87675.1(APP):g.284477C>T chr14 72742930 72742931 ADM_164 + AF109907.1(PSEN1):g.124374A>G chr14 72734572 72734573 ADM_165 + AF109907.1(PSEN1):g.116021C>T chr14 72729172 72729173 ADM_166 + AF109907.1(PSEN1):g.110621G>T chr14 72729303 72729304 ADM_167 + AF109907.1(PSEN1):g.110752T>G chr14 72734521 72734522 ADM_168 + AF109907.1(PSEN1):g.115970C>T chr14 72755616 72755617 ADM_169 + AF109907.1(PSEN1):g.137060T>G chr14 72729221 72729222 ADM_170 + AF109907.1(PSEN1):g.110670G>C chr14 72729322 72729323 ADM_171 + AF109907.1(PSEN1):g.110771A>C chr17 41395552 41395553 ADM_172 + AC091628.2(MAPT):g.75756G>A chr17 41395552 41395553 ADM_173 + AC091628.2(MAPT):g.75756G>T chr17 41429814 41429815 ADM_174 + AC091628.2(MAPT):g.110018A>C chr17 41429822 41429823 ADM_175 + AC091628.2(MAPT):g.110026A>G chr17 41429840 41429841 ADM_176 + AC091628.2(MAPT):g.110044C>G chr17 41429859 41429860 ADM_177 + AC091628.2(MAPT):g.110063G>T chr17 41443526 41443527 ADM_178 + AC091628.2(MAPT):g.123725T>G chr17 41443530 41443533 ADM_179 + AC091628.2(MAPT):g.123729_123731delAAG chr17 41443541 41443542 ADM_180 + AC091628.2(MAPT):g.123740T>C chr17 41443577 41443578 ADM_181 + AC091628.2(MAPT):g.123776T>C chr17 41443575 41443576 ADM_182 + AC091628.2(MAPT):g.123774A>C chr17 41443576 41443579 ADM_183 + AC091628.2(MAPT):g.123775_123777delATA chr17 41443590 41443591 ADM_184 + AC091628.2(MAPT):g.123789C>T chr17 41443604 41443605 ADM_185 + AC091628.2(MAPT):g.123803T>C chr17 41443603 41443604 ADM_186 + AC091628.2(MAPT):g.123802G>A chr17 41447473 41447474 ADM_187 + AC091628.2(MAPT):g.127672T>G chr17 41447488 41447489 ADM_188 + AC091628.2(MAPT):g.127687C>T chr17 41451841 41451842 ADM_189 + AC091628.2(MAPT):g.132039G>A chr17 41451857 41451858 ADM_190 + AC091628.2(MAPT):g.132055A>T chr17 41451887 41451888 ADM_191 + AC091628.2(MAPT):g.132085C>T chr17 41451938 41451939 ADM_192 + AC091628.2(MAPT):g.132136A>T chr17 41457220 41457221 ADM_193 + AC091628.2(MAPT):g.137420G>C chr17 41457220 41457221 ADM_194 + AC091628.2(MAPT):g.137420G>A chr17 41457271 41457272 ADM_195 + AC091628.2(MAPT):g.137471C>T chr17 41443591 41443592 ADM_196 + AC091628.2(MAPT):g.123790C>T chr17 41443607 41443608 ADM_197 + AC091628.2(MAPT):g.123806G>A chr17 41443615 41443616 ADM_198 + AC091628.2(MAPT):g.123814T>C chr17 41443616 41443617 ADM_199 + AC091628.2(MAPT):g.123815C>T chr17 41443617 41443618 ADM_200 + AC091628.2(MAPT):g.123816A>G chr17 41443618 41443619 ADM_201 + AC091628.2(MAPT):g.123817C>T chr17 41443620 41443621 ADM_202 + AC091628.2(MAPT):g.123819C>T chr17 41443623 41443624 ADM_203 + AC091628.2(MAPT):g.123822C>G chr17 41443633 41443634 ADM_204 + AC091628.2(MAPT):g.123832G>A chr17 41451839 41451840 ADM_205 + AC091628.2(MAPT):g.132037A>G chr17 41395592 41395593 ADM_206 + AC091628.2(MAPT):g.75796C>T chr17 41395655 41395656 ADM_207 + AC091628.2(MAPT):g.75859G>A chr17 41416611 41416612 ADM_208 + AC091628.2(MAPT):g.96815C>T chr17 41416695 41416696 ADM_209 + AC091628.2(MAPT):g.96899A>G chr17 41416859 41416860 ADM_210 + AC091628.2(MAPT):g.97063G>A chr17 41416861 41416862 ADM_211 + AC091628.2(MAPT):g.97065C>T chr17 41416872 41416873 ADM_212 + AC091628.2(MAPT):g.97076T>C chr17 41417113 41417114 ADM_213 + AC091628.2(MAPT):g.97317C>T chr17 41423218 41423219 ADM_214 + AC091628.2(MAPT):g.103422T>C chr17 41423236 41423237 ADM_215 + AC091628.2(MAPT):g.103440T>C chr17 41424760 41424761 ADM_216 + AC091628.2(MAPT):g.104964G>A chr17 41424764 41424765 ADM_217 + AC091628.2(MAPT):g.104968G>A chr17 41427130 41427131 ADM_218 + AC091628.2(MAPT):g.107334T>C chr17 41429725 41429726 ADM_219 + AC091628.2(MAPT):g.109929A>G chr17 41429809 41429810 ADM_221 + AC091628.2(MAPT):g.110013T>C chr17 41429854 41429855 ADM_222 + AC091628.2(MAPT):g.110058G>A chr17 41443592 41443593 ADM_223 + AC091628.2(MAPT):g.123791G>A chr14 72723380 72723381 ADM_224 + AF109907.1(PSEN1):g.104830G>T chr14 72710037 72710038 ADM_225 + AF109907.1(PSEN1):g.91538C>G chr14 72729192 72729193 ADM_226 + AF109907.1(PSEN1):g.110641A>T chr1 223383380 223383381 ADM_227 + U50871.1(PSEN2):g.44115A>T chr14 72729232 72729233 ADM_228 + AF109907.1(PSEN1):g.110681T>G chr14 72710034 72710035 ADM_229 + AF109907.1(PSEN1):g.91535C>T chr14 72710030 72710031 ADM_230 + AF109907.1(PSEN1):g.91531T>G chr17 41447479 41447480 ADM_231 + AC091628.2(MAPT):g.127678A>T chr17 41457335 41457336 ADM_232 + AC091628.2(MAPT):g.137535C>T chr17 41407621 41407622 ADM_233 + AC091628.2(MAPT):g.87825G>A chr14 72710147 72710148 ADM_234 + AF109907.1(PSEN1):g.91648T>A chr21 26191789 26191790 ADM_235 - D87675.1(APP):g.278665A>G chr21 26191787 26191788 ADM_236 - D87675.1(APP):g.278667G>A chr14 72734554 72734555 ADM_237 + AF109907.1(PSEN1):g.116003G>T chr21 26185978 26185979 ADM_238 - D87675.1(APP):g.284476G>A chr14 72707423 72707424 ADM_239 + AF109907.1(PSEN1):g.88924T>C chr17 41447474 41447475 ADM_240 + AC091628.2(MAPT):g.127673G>A chr14 72707507 72707508 ADM_241 + AF109907.1(PSEN1):g.89008T>A chr14 72710091 72710092 ADM_242 + AF109907.1(PSEN1):g.91592A>G chr17 41451836 41451837 ADM_243 + AC091628.2(MAPT):g.132034G>T chr17 41443597 41443598 ADM_244 + AC091628.2(MAPT):g.123796G>T chr17 41457325 41457326 ADM_245 + AC091628.2(MAPT):g.137525C>A chr21 26186038 26186039 ADM_246 - D87675.1(APP):g.284416G>A chr21 26186002 26186003 ADM_247 - D87675.1(APP):g.284452C>G chr14 72723329 72723330 ADM_248 + AF109907.1(PSEN1):g.104779T>A chr14 72723341 72723342 ADM_249 + AF109907.1(PSEN1):g.104791C>T chr14 72755663 72755666 ADM_250 + AF109907.1(PSEN1):g.137107_137109delACC chr14 72723353 72723354 ADM_251 + AF109907.1(PSEN1):g.104803T>G chr14 72753597 72753598 ADM_252 + AF109907.1(PSEN1):g.135040C>G chr14 72707482 72707483 ADM_253 + AF109907.1(PSEN1):g.88983T>A chr14 72710115 72710116 ADM_254 + AF109907.1(PSEN1):g.91616T>A chr14 72729172 72729173 ADM_255 + AF109907.1(PSEN1):g.110621G>A chr14 72729195 72729196 ADM_256 + AF109907.1(PSEN1):g.110644C>T chr14 72753613 72753614 ADM_257 + AF109907.1(PSEN1):g.135056T>C chr14 72753627 72753628 ADM_258 + AF109907.1(PSEN1):g.135070G>T chr14 72755616 72755617 ADM_259 + AF109907.1(PSEN1):g.137060T>A chr17 39783144 39783145 ADM_265 + AC003043.1.rev(GRN):g.101153C>T chr17 39778232 39778233 ADM_266 + AC003043.1.rev(GRN):g.96241G>C chr17 39782060 39782061 ADM_267 + AC003043.1.rev(GRN):g.100069G>A chr17 39783151 39783153 ADM_268 + AC003043.1.rev(GRN):g.101160_101161delCT chr17 39784056 39784058 ADM_269 + AC003043.1.rev(GRN):g.102065_102066insCTGA chr17 39782059 39782060 ADM_270 + AC003043.1.rev(GRN):g.100068T>C chr17 39782147 39782149 ADM_271 + AC003043.1.rev(GRN):g.100156_100157insCTGC chr17 39783159 39783163 ADM_272 + AC003043.1.rev(GRN):g.101168_101171delCAGT chr17 39784354 39784355 ADM_273 + AC003043.1.rev(GRN):g.102363G>A chr17 39784654 39784655 ADM_274 + AC003043.1.rev(GRN):g.102663delC chr17 39784666 39784667 ADM_275 + AC003043.1.rev(GRN):g.102675G>A chr17 39784980 39784981 ADM_276 + AC003043.1.rev(GRN):g.102989C>T chr17 39785130 39785131 ADM_277 + AC003043.1.rev(GRN):g.103139C>T chr14 72729288 72729289 ADM_278 + AF109907.1(PSEN1):g.110737A>C chr14 72707458 72707459 ADM_279 + AF109907.1(PSEN1):g.88959G>T chr21 26185943 26185944 ADM_280 - D87675.1(APP):g.284511G>C chr17 39782083 39782084 ADM_281 + AC003043.1.rev(GRN):g.100092C>A chr17 39782120 39782122 ADM_282 + AC003043.1.rev(GRN):g.100129_100130insC chr17 39782159 39782160 ADM_283 + AC003043.1.rev(GRN):g.100168delC chr17 39782196 39782197 ADM_284 + AC003043.1.rev(GRN):g.100205G>A chr17 39782334 39782335 ADM_286 + AC003043.1.rev(GRN):g.100343delA chr17 39782414 39782416 ADM_287 + AC003043.1.rev(GRN):g.100423_100424delAG chr17 39783334 39783335 ADM_288 + AC003043.1.rev(GRN):g.101343G>A chr17 39783660 39783662 ADM_289 + AC003043.1.rev(GRN):g.101669_101670delCA chr17 39783694 39783695 ADM_290 + AC003043.1.rev(GRN):g.101703G>C chr17 39783980 39783982 ADM_291 + AC003043.1.rev(GRN):g.101989_101990delTG chr17 39784255 39784256 ADM_292 + AC003043.1.rev(GRN):g.102264G>C chr17 39784330 39784332 ADM_293 + AC003043.1.rev(GRN):g.102339_102340insTG chr17 39784331 39784332 ADM_294 + AC003043.1.rev(GRN):g.102340G>A chr17 39784507 39784508 ADM_295 + AC003043.1.rev(GRN):g.102516delG chr17 39785123 39785125 ADM_296 + AC003043.1.rev(GRN):g.103132_103133insC chr17 39785297 39785298 ADM_297 + AC003043.1.rev(GRN):g.103306C>T chr17 39782112 39782113 ADM_298 + AC003043.1.rev(GRN):g.100121C>T chr17 39782156 39782157 ADM_299 + AC003043.1.rev(GRN):g.100165C>T chr17 39782444 39782445 ADM_300 + AC003043.1.rev(GRN):g.100453G>A chr17 39782608 39782609 ADM_301 + AC003043.1.rev(GRN):g.100617T>C chr17 39783155 39783156 ADM_302 + AC003043.1.rev(GRN):g.101164T>C chr17 39783693 39783694 ADM_303 + AC003043.1.rev(GRN):g.101702C>T chr17 39784281 39784282 ADM_304 + AC003043.1.rev(GRN):g.102290G>C chr17 39784323 39784324 ADM_305 + AC003043.1.rev(GRN):g.102332G>A chr17 39784479 39784480 ADM_306 + AC003043.1.rev(GRN):g.102488G>A chr17 39784981 39784982 ADM_307 + AC003043.1.rev(GRN):g.102990G>A chr17 39785025 39785026 ADM_308 + AC003043.1.rev(GRN):g.103034C>T chr17 39785242 39785243 ADM_309 + AC003043.1.rev(GRN):g.103251C>T chr17 39785364 39785365 ADM_310 + AC003043.1.rev(GRN):g.103373G>C chr14 72742823 72742825 ADM_312 + AF109907.1(PSEN1):g.124267_124268ins18 chr14 72742848 72742849 ADM_313 + AF109907.1(PSEN1):g.124292A>C chr17 39783694 39783695 ADM_314 + AC003043.1.rev(GRN):g.101703G>A chr17 39785219 39785412 ADM_315 + AC003043.1.rev(GRN):g.103228_103420del chr17 41429759 41429760 ADM_316 + AC091628.2(MAPT):g.109963G>A chr17 41443629 41443630 ADM_317 + AC091628.2(MAPT):g.123828C>T chr17 39784034 39784038 ADM_318 + AC003043.1.rev(GRN):g.102043_102046delCACT chr1 223379981 223379982 ADM_319 + U50871.1(PSEN2):g.40713C>G chr14 72734571 72734572 ADM_320 + AF109907.1(PSEN1):g.116020C>T chr14 72729254 72729255 ADM_321 + AF109907.1(PSEN1):g.110703G>C chr17 41451835 41451836 ADM_322 + AC091628.2(MAPT):g.132033G>A chr17 39782423 39782424 ADM_323 + AC003043.1.rev(GRN):g.100432delC chr17 39782574 39782575 ADM_324 + AC003043.1.rev(GRN):g.100583G>A chr17 39783417 39783418 ADM_325 + AC003043.1.rev(GRN):g.101426C>T chr17 39783683 39783684 ADM_326 + AC003043.1.rev(GRN):g.101692C>A chr17 39784959 39784961 ADM_327 + AC003043.1.rev(GRN):g.102968_102969delGT chr17 39784969 39784970 ADM_328 + AC003043.1.rev(GRN):g.102978G>T chr17 39785069 39785070 ADM_329 + AC003043.1.rev(GRN):g.103078C>T chr17 39785443 39785444 ADM_330 + AC003043.1.rev(GRN):g.103452G>C chr17 39783928 39783929 ADM_331 + AC003043.1.rev(GRN):g.101937A>G chr14 72729231 72729232 ADM_332 + AF109907.1(PSEN1):g.110680C>T chr17 41443502 41443503 ADM_334 + AC091628.2(MAPT):g.123701G>T chr17 39783130 39783131 ADM_335 + AC003043.1.rev(GRN):g.101139C>A chr17 39784685 39784686 ADM_336 + AC003043.1.rev(GRN):g.102694A>C chr17 39783192 39783193 ADM_337 + AC003043.1.rev(GRN):g.101201G>A chr17 39785101 39785102 ADM_338 + AC003043.1.rev(GRN):g.103110C>T chr17 39785575 39785576 ADM_339 + AC003043.1.rev(GRN):g.103584C>T chr17 39778230 39778231 ADM_340 + AC003043.1.rev(GRN):g.96239A>T chr17 39783132 39783133 ADM_341 + AC003043.1.rev(GRN):g.101141delG chr17 39783155 39783159 ADM_342 + AC003043.1.rev(GRN):g.101164_101167delTAGT chr17 39783340 39783347 ADM_343 + AC003043.1.rev(GRN):g.101349_101355delCTGCTGT chr17 39784451 39784452 ADM_344 + AC003043.1.rev(GRN):g.102460C>A chr17 39784604 39784606 ADM_345 + AC003043.1.rev(GRN):g.102613_102614delCT chr17 39784929 39784930 ADM_346 + AC003043.1.rev(GRN):g.102938C>T chr17 39784960 39784962 ADM_347 + AC003043.1.rev(GRN):g.102969_102970insGT chr17 39782159 39782160 ADM_348 + AC003043.1.rev(GRN):g.100168C>T chr17 39785604 39785605 ADM_349 + AC003043.1.rev(GRN):g.103613C>T chr17 39783964 39783965 ADM_350 + AC003043.1.rev(GRN):g.101973C>T chr17 39783994 39783995 ADM_351 + AC003043.1.rev(GRN):g.102003G>A chr17 39785022 39785023 ADM_353 + AC003043.1.rev(GRN):g.103031C>T chr17 39784329 39784330 ADM_354 + AC003043.1.rev(GRN):g.102338delC chr17 39785305 39785306 ADM_355 + AC003043.1.rev(GRN):g.103314C>T chr17 39782612 39782613 ADM_356 + AC003043.1.rev(GRN):g.100621G>A chr17 39783345 39783346 ADM_357 + AC003043.1.rev(GRN):g.101354G>A chr17 39783620 39783621 ADM_358 + AC003043.1.rev(GRN):g.101629G>A chr17 39783643 39783644 ADM_359 + AC003043.1.rev(GRN):g.101652A>T chr17 39784002 39784003 ADM_360 + AC003043.1.rev(GRN):g.102011C>A chr17 39784025 39784026 ADM_361 + AC003043.1.rev(GRN):g.102034G>A chr17 39784505 39784506 ADM_362 + AC003043.1.rev(GRN):g.102514G>A chr17 39785137 39785138 ADM_363 + AC003043.1.rev(GRN):g.103146C>T chr17 39785245 39785246 ADM_364 + AC003043.1.rev(GRN):g.103254C>T chr17 39785557 39785558 ADM_365 + AC003043.1.rev(GRN):g.103566G>A chr14 72734555 72734556 ADM_366 + AF109907.1(PSEN1):g.116004A>C chr14 72755604 72755605 ADM_367 + AF109907.1(PSEN1):g.137048T>G chr14 72723328 72723331 ADM_368 + AF109907.1(PSEN1):g.104778_104780delCTT chr14 72729252 72729253 ADM_369 + AF109907.1(PSEN1):g.110701A>T chr17 39784653 39784655 ADM_371 + AC003043.1.rev(GRN):g.102662_102663insA chr17 39782338 39782339 ADM_372 + AC003043.1.rev(GRN):g.100347T>C chr1 223378252 223378253 ADM_373 + U50871.1(PSEN2):g.38984C>T chr17 41451919 41451920 ADM_374 + AC091628.2(MAPT):g.132117G>A chr17 39782623 39782624 ADM_375 + AC003043.1.rev(GRN):g.100632C>T chr17 39784518 39784519 ADM_376 + AC003043.1.rev(GRN):g.102527C>T chr17 41443590 41443591 ADM_377 + AC091628.2(MAPT):g.123789C>A chr3 87385550 87385551 ADM_378 + NT_022459.14.20933454_21061505(CHMP2B):g.76265G>C chr3 87385260 87385261 ADM_379 + NT_022459.14.20933454_21061505(CHMP2B):g.75975G>T chr3 87385575 87385576 ADM_380 + NT_022459.14.20933454_21061505(CHMP2B):g.76290C>T chr3 87359388 87359389 ADM_381 + NT_022459.14.20933454_21061505(CHMP2B):g.50103C>T chr3 87377738 87377739 ADM_382 + NT_022459.14.20933454_21061505(CHMP2B):g.68453T>C chr3 87381764 87381765 ADM_383 + NT_022459.14.20933454_21061505(CHMP2B):g.72479A>C chr3 87372588 87372589 ADM_384 + NT_022459.14.20933454_21061505(CHMP2B):g.63303A>G chr3 87385637 87385638 ADM_385 + NT_022459.14.20933454_21061505(CHMP2B):g.76352A>C chr3 87385311 87385312 ADM_386 + NT_022459.14.20933454_21061505(CHMP2B):g.76026C>T chr3 87385246 87385247 ADM_387 + NT_022459.14.20933454_21061505(CHMP2B):g.75961A>G chr17 7519122 7519124 TP53_g.13210_13211delinsAT - X54156.1(TP53):g.13210_13211delinsAT chr17 7519122 7519123 TP53_g.13211C>G - X54156.1(TP53):g.13211C>G chr17 7518999 7519000 TP53_g.13334C>T - X54156.1(TP53):g.13334C>T chr17 7518998 7518999 TP53_g.13335A>T - X54156.1(TP53):g.13335A>T chr17 7518935 7518936 TP53_g.13398G>A - X54156.1(TP53):g.13398G>A chr17 7518319 7518321 TP53_g.14012_14013delinsAA - X54156.1(TP53):g.14012_14013delinsAA chr17 7518311 7518312 TP53_g.14021A>C - X54156.1(TP53):g.14021A>C chr17 7517821 7517822 TP53_g.14510G>C - X54156.1(TP53):g.14510G>C chr17 7518297 7518298 TP53_g.14035C>A - X54156.1(TP53):g.14035C>A chr17 7518275 7518276 TP53_g.14057G>A - X54156.1(TP53):g.14057G>A chr17 7518271 7518273 TP53_g.14060_14061delinsCT - X54156.1(TP53):g.14060_14061delinsCT chr17 7518262 7518263 TP53_g.14070G>T - X54156.1(TP53):g.14070G>T chr17 7517837 7517838 TP53_g.14494T>C - X54156.1(TP53):g.14494T>C chr17 7517830 7517831 TP53_g.14501C>G - X54156.1(TP53):g.14501C>G chr17 7517819 7517820 TP53_g.14512C>A - X54156.1(TP53):g.14512C>A chr17 7517774 7517775 TP53_g.14557C>T - X54156.1(TP53):g.14557C>T chr17 7519229 7519230 TP53_g.13104C>A - X54156.1(TP53):g.13104C>A chr17 7517813 7517814 TP53_g.14518del - X54156.1(TP53):g.14518del chr17 7519232 7519233 TP53_g.13101G>A - X54156.1(TP53):g.13101G>A chr17 7517854 7517855 TP53_g.14477T>G - X54156.1(TP53):g.14477T>G chr17 7518283 7518284 TP53_g.14049C>G - X54156.1(TP53):g.14049C>G chr17 7517815 7517816 TP53_g.14516C>T - X54156.1(TP53):g.14516C>T chr17 7518289 7518290 TP53_g.14043A>G - X54156.1(TP53):g.14043A>G chr17 7518941 7518942 TP53_g.13392C>A - X54156.1(TP53):g.13392C>A chr17 7517809 7517810 TP53_g.14522G>T - X54156.1(TP53):g.14522G>T chr17 7519187 7519188 TP53_g.13146G>C - X54156.1(TP53):g.13146G>C chr17 7520124 7520125 TP53_g.12211C>G - X54156.1(TP53):g.12211C>G chr17 7517823 7517824 TP53_g.14508G>A - X54156.1(TP53):g.14508G>A chr17 7518291 7518292 TP53_g.14041T>G - X54156.1(TP53):g.14041T>G chr17 7518987 7518988 TP53_g.13346C>T - X54156.1(TP53):g.13346C>T chr17 7518298 7518299 TP53_g.14034A>G - X54156.1(TP53):g.14034A>G chr17 7518266 7518267 TP53_g.14066A>G - X54156.1(TP53):g.14066A>G chr17 7518260 7518266 TP53_g.14067_14072del - X54156.1(TP53):g.14067_14072del chr17 7519143 7519144 TP53_g.13190G>C - X54156.1(TP53):g.13190G>C chr17 7518984 7518985 TP53_g.13349G>A - X54156.1(TP53):g.13349G>A chr17 7517814 7517815 TP53_g.14517G>C - X54156.1(TP53):g.14517G>C chr17 7517808 7517809 TP53_g.14523A>T - X54156.1(TP53):g.14523A>T chr17 7517806 7517807 TP53_g.14525G>T - X54156.1(TP53):g.14525G>T chr17 7517789 7517790 TP53_g.14542G>A - X54156.1(TP53):g.14542G>A chr17 7518240 7518243 TP53_g.14090_14092del - X54156.1(TP53):g.14090_14092del chr17 7517848 7517849 TP53_g.14483G>A - X54156.1(TP53):g.14483G>A chr17 7517838 7517839 TP53_g.14493G>A - X54156.1(TP53):g.14493G>A chr17 7518249 7518253 TP53_g.14080_14083del - X54156.1(TP53):g.14080_14083del chr17 7518271 7518273 TP53_g.14060_14061delinsAA - X54156.1(TP53):g.14060_14061delinsAA chr17 7520270 7520271 TP53_g.12065G>A - X54156.1(TP53):g.12065G>A chr17 7517785 7517786 TP53_g.14546G>A - X54156.1(TP53):g.14546G>A chr17 7517838 7517839 TP53_g.14493G>C - X54156.1(TP53):g.14493G>C chr17 7517851 7517852 TP53_g.14480G>A - X54156.1(TP53):g.14480G>A chr17 7518927 7518929 TP53_g.13405_13406ins1 - X54156.1(TP53):g.13405_13406ins1 chr17 7520036 7520037 TP53_g.12299G>A - X54156.1(TP53):g.12299G>A chr17 7519015 7519016 TP53_g.13318A>T - X54156.1(TP53):g.13318A>T chr17 7517806 7517807 TP53_g.14525G>C - X54156.1(TP53):g.14525G>C chr17 7519250 7519251 TP53_g.13083G>A - X54156.1(TP53):g.13083G>A chr17 7518321 7518322 TP53_g.14011C>G - X54156.1(TP53):g.14011C>G chr17 7518233 7518234 TP53_g.14099G>A - X54156.1(TP53):g.14099G>A chr17 7520227 7520228 TP53_g.12108G>T - X54156.1(TP53):g.12108G>T chr17 7517826 7517827 TP53_g.14505G>A - X54156.1(TP53):g.14505G>A chr17 7519181 7519182 TP53_g.13152G>T - X54156.1(TP53):g.13152G>T chr17 7519232 7519233 TP53_g.13101G>T - X54156.1(TP53):g.13101G>T chr17 7519130 7519131 TP53_g.13203G>C - X54156.1(TP53):g.13203G>C chr17 7519258 7519259 TP53_g.13075G>T - X54156.1(TP53):g.13075G>T chr17 7519191 7519204 TP53_g.13130_13142del - X54156.1(TP53):g.13130_13142del chr17 7517818 7517819 TP53_g.14513C>G - X54156.1(TP53):g.14513C>G chr17 7519198 7519199 TP53_g.13135G>A - X54156.1(TP53):g.13135G>A chr17 7517831 7517832 TP53_g.14500T>C - X54156.1(TP53):g.14500T>C chr17 7519256 7519257 TP53_g.13077T>G - X54156.1(TP53):g.13077T>G chr17 7518999 7519000 TP53_g.13334C>A - X54156.1(TP53):g.13334C>A chr17 7518933 7518934 TP53_g.13400C>T - X54156.1(TP53):g.13400C>T chr17 7519191 7519192 TP53_g.13142A>C - X54156.1(TP53):g.13142A>C chr17 7519136 7519137 TP53_g.13197T>G - X54156.1(TP53):g.13197T>G chr17 7518304 7518305 TP53_g.14028A>C - X54156.1(TP53):g.14028A>C chr17 7518299 7518300 TP53_g.14033T>G - X54156.1(TP53):g.14033T>G chr17 7517819 7517820 TP53_g.14512C>G - X54156.1(TP53):g.14512C>G chr17 7517850 7517851 TP53_g.14481A>G - X54156.1(TP53):g.14481A>G chr17 7517847 7517848 TP53_g.14484T>G - X54156.1(TP53):g.14484T>G chr17 7519134 7519135 TP53_g.13199del - X54156.1(TP53):g.13199del chr17 7517860 7517861 TP53_g.14471A>T - X54156.1(TP53):g.14471A>T chr17 7517850 7517851 TP53_g.14481A>C - X54156.1(TP53):g.14481A>C chr17 7517865 7517866 TP53_g.14466G>T - X54156.1(TP53):g.14466G>T chr17 7519200 7519202 TP53_g.13132_13133ins1 - X54156.1(TP53):g.13132_13133ins1 chr17 7519182 7519184 TP53_g.13150_13151del - X54156.1(TP53):g.13150_13151del chr17 7519212 7519213 TP53_g.13121G>A - X54156.1(TP53):g.13121G>A chr17 7518285 7518286 TP53_g.14047T>A - X54156.1(TP53):g.14047T>A chr17 7517781 7517782 TP53_g.14550A>T - X54156.1(TP53):g.14550A>T chr17 7517751 7517752 TP53_g.14580C>A - X54156.1(TP53):g.14580C>A chr17 7518235 7518236 TP53_g.14097T>G - X54156.1(TP53):g.14097T>G chr17 7518960 7518961 TP53_g.13373T>C - X54156.1(TP53):g.13373T>C chr17 7518292 7518293 TP53_g.14040G>C - X54156.1(TP53):g.14040G>C chr17 7517797 7517798 TP53_g.14534C>G - X54156.1(TP53):g.14534C>G chr17 7520082 7520083 TP53_g.12253G>A - X54156.1(TP53):g.12253G>A chr17 7519145 7519146 TP53_g.13188C>T - X54156.1(TP53):g.13188C>T chr17 7520147 7520148 TP53_g.12188C>T - X54156.1(TP53):g.12188C>T chr17 7519243 7519244 TP53_g.13090G>A - X54156.1(TP53):g.13090G>A chr17 7519231 7519232 TP53_g.13102C>T - X54156.1(TP53):g.13102C>T chr17 7517868 7517869 TP53_g.14463T>C - X54156.1(TP53):g.14463T>C chr17 7518928 7518929 TP53_g.13405T>A - X54156.1(TP53):g.13405T>A chr17 7518925 7518926 TP53_g.13408G>T - X54156.1(TP53):g.13408G>T chr17 7518907 7518908 TP53_g.13426G>T - X54156.1(TP53):g.13426G>T chr17 7517812 7517813 TP53_g.14519A>C - X54156.1(TP53):g.14519A>C chr17 7519124 7519141 TP53_g.13193_13209del - X54156.1(TP53):g.13193_13209del chr17 7517804 7517805 TP53_g.14527A>T - X54156.1(TP53):g.14527A>T chr17 7517863 7517865 TP53_g.14467_14468ins1 - X54156.1(TP53):g.14467_14468ins1 chr17 7517808 7517810 TP53_g.14522_14523ins1 - X54156.1(TP53):g.14522_14523ins1 chr17 7520194 7520195 TP53_g.12141G>C - X54156.1(TP53):g.12141G>C chr17 7518983 7518984 TP53_g.13350T>A - X54156.1(TP53):g.13350T>A chr17 7518290 7518292 TP53_g.14041_14042ins1 - X54156.1(TP53):g.14041_14042ins1 chr17 7519231 7519234 TP53_g.13100_13102delinsGCG - X54156.1(TP53):g.13100_13102delinsGCG chr17 7518946 7518947 TP53_g.13387A>T - X54156.1(TP53):g.13387A>T chr17 7520137 7520139 TP53_g.12197_12198ins1 - X54156.1(TP53):g.12197_12198ins1 chr17 7517878 7517879 TP53_g.14453G>A - X54156.1(TP53):g.14453G>A chr17 7519099 7519101 TP53_g.13233_13234delinsCG - X54156.1(TP53):g.13233_13234delinsCG chr17 7518954 7518955 TP53_g.13379G>T - X54156.1(TP53):g.13379G>T chr17 7519270 7519273 TP53_g.13061_13063del - X54156.1(TP53):g.13061_13063del chr17 7520073 7520074 TP53_g.12262T>G - X54156.1(TP53):g.12262T>G chr17 7518085 7518223 TP53_g.14110_14246del - X54156.1(TP53):g.14110_14246del chr17 7519169 7519170 TP53_g.13164T>A - X54156.1(TP53):g.13164T>A chr17 7514745 7514746 TP53_g.17584G>T - X54156.1(TP53):g.17584G>T chr17 7518334 7518335 TP53_g.13998A>T - X54156.1(TP53):g.13998A>T chr17 7519190 7519191 TP53_g.13143C>T - X54156.1(TP53):g.13143C>T chr17 7520092 7520093 TP53_g.12243T>G - X54156.1(TP53):g.12243T>G chr17 7518977 7518978 TP53_g.13356G>A - X54156.1(TP53):g.13356G>A chr17 7519265 7519266 TP53_g.13068T>A - X54156.1(TP53):g.13068T>A chr17 7517635 7517636 TP53_g.14696C>T - X54156.1(TP53):g.14696C>T chr17 7517627 7517628 TP53_g.14704T>C - X54156.1(TP53):g.14704T>C chr17 7518306 7518308 TP53_g.14025_14026del - X54156.1(TP53):g.14025_14026del chr17 7520090 7520091 TP53_g.12245C>T - X54156.1(TP53):g.12245C>T chr17 7517583 7517584 TP53_g.14748C>T - X54156.1(TP53):g.14748C>T chr17 7517764 7517765 TP53_g.14567C>T - X54156.1(TP53):g.14567C>T chr17 7520211 7520212 TP53_g.12124C>T - X54156.1(TP53):g.12124C>T chr17 7520189 7520190 TP53_g.12146C>T - X54156.1(TP53):g.12146C>T chr17 7520142 7520143 TP53_g.12193C>T - X54156.1(TP53):g.12193C>T chr17 7520212 7520213 TP53_g.12123C>T - X54156.1(TP53):g.12123C>T chr17 7519250 7519251 TP53_g.13083G>C - X54156.1(TP53):g.13083G>C chr17 7518993 7518994 TP53_g.13340C>G - X54156.1(TP53):g.13340C>G chr17 7519288 7519289 TP53_g.13045C>T - X54156.1(TP53):g.13045C>T chr17 7517579 7517580 TP53_g.14752C>T - X54156.1(TP53):g.14752C>T chr17 7520197 7520198 TP53_g.12138C>T - X54156.1(TP53):g.12138C>T chr17 7520245 7520246 TP53_g.12090G>T - X54156.1(TP53):g.12090G>T chr17 7520194 7520195 TP53_g.12141G>A - X54156.1(TP53):g.12141G>A chr17 7517622 7517623 TP53_g.14709C>T - X54156.1(TP53):g.14709C>T chr17 7520235 7520236 TP53_g.12100G>A - X54156.1(TP53):g.12100G>A chr17 7519212 7519213 TP53_g.13121del - X54156.1(TP53):g.13121del chr17 7520087 7520088 TP53_g.12248T>C - X54156.1(TP53):g.12248T>C chr17 7519193 7519194 TP53_g.13140G>A - X54156.1(TP53):g.13140G>A chr17 7518222 7518223 TP53_g.14110G>A - X54156.1(TP53):g.14110G>A chr17 7518974 7518975 TP53_g.13359A>T - X54156.1(TP53):g.13359A>T chr17 7518960 7518961 TP53_g.13373T>G - X54156.1(TP53):g.13373T>G chr17 7519220 7519221 TP53_g.13113T>C - X54156.1(TP53):g.13113T>C chr17 7518228 7518229 TP53_g.14104del - X54156.1(TP53):g.14104del chr17 7518966 7518967 TP53_g.13367G>A - X54156.1(TP53):g.13367G>A chr17 7520138 7520139 TP53_g.12197G>A - X54156.1(TP53):g.12197G>A chr17 7519263 7519264 TP53_g.13070del - X54156.1(TP53):g.13070del chr17 7520182 7520183 TP53_g.12153del - X54156.1(TP53):g.12153del chr17 7517577 7517578 TP53_g.14754G>A - X54156.1(TP53):g.14754G>A chr17 7519187 7519189 TP53_g.13145_13146ins1 - X54156.1(TP53):g.13145_13146ins1 chr17 7519122 7519123 TP53_g.13211del - X54156.1(TP53):g.13211del chr17 7519246 7519276 TP53_g.13058_13087del - X54156.1(TP53):g.13058_13087del chr17 7520097 7520098 TP53_g.12238G>A - X54156.1(TP53):g.12238G>A chr17 7519266 7519267 TP53_g.13067C>T - X54156.1(TP53):g.13067C>T chr17 7518271 7518272 TP53_g.14061G>T - X54156.1(TP53):g.14061G>T chr17 7519274 7519275 TP53_g.13059C>T - X54156.1(TP53):g.13059C>T chr17 7520079 7520080 TP53_g.12256T>C - X54156.1(TP53):g.12256T>C chr17 7519197 7519198 TP53_g.13136C>A - X54156.1(TP53):g.13136C>A chr17 7517814 7517815 TP53_g.14517G>A - X54156.1(TP53):g.14517G>A chr17 7519137 7519138 TP53_g.13196G>C - X54156.1(TP53):g.13196G>C chr17 7519104 7519105 TP53_g.13229G>A - X54156.1(TP53):g.13229G>A chr17 7519004 7519005 TP53_g.13329C>T - X54156.1(TP53):g.13329C>T chr17 7518302 7518303 TP53_g.14030A>T - X54156.1(TP53):g.14030A>T chr17 7518287 7518288 TP53_g.14045A>C - X54156.1(TP53):g.14045A>C chr17 7518263 7518264 TP53_g.14069C>A - X54156.1(TP53):g.14069C>A chr17 7518261 7518262 TP53_g.14071G>C - X54156.1(TP53):g.14071G>C chr17 7518257 7518258 TP53_g.14075C>A - X54156.1(TP53):g.14075C>A chr17 7518248 7518249 TP53_g.14084A>C - X54156.1(TP53):g.14084A>C chr17 7517641 7517642 TP53_g.14690A>T - X54156.1(TP53):g.14690A>T chr17 7517638 7517639 TP53_g.14693A>G - X54156.1(TP53):g.14693A>G chr17 7517638 7517639 TP53_g.14693A>C - X54156.1(TP53):g.14693A>C chr17 7517619 7517620 TP53_g.14712G>T - X54156.1(TP53):g.14712G>T chr17 7518978 7518979 TP53_g.13355G>A - X54156.1(TP53):g.13355G>A chr17 7519011 7519012 TP53_g.13322C>G - X54156.1(TP53):g.13322C>G chr17 7518252 7518258 TP53_g.14075_14080del - X54156.1(TP53):g.14075_14080del chr17 7517836 7517837 TP53_g.14495G>T - X54156.1(TP53):g.14495G>T chr17 7519133 7519134 TP53_g.13200G>C - X54156.1(TP53):g.13200G>C chr17 7517858 7517859 TP53_g.14473C>T - X54156.1(TP53):g.14473C>T chr17 7517775 7517780 TP53_g.14552_14556del - X54156.1(TP53):g.14552_14556del chr17 7518305 7518306 TP53_g.14027T>A - X54156.1(TP53):g.14027T>A chr17 7519276 7519287 TP53_g.13047_13057del - X54156.1(TP53):g.13047_13057del chr17 7519182 7519183 TP53_g.13151C>A - X54156.1(TP53):g.13151C>A chr17 7520132 7520133 TP53_g.12203G>A - X54156.1(TP53):g.12203G>A chr17 7518951 7518953 TP53_g.13381_13382delinsGT - X54156.1(TP53):g.13381_13382delinsGT chr17 7518249 7518252 TP53_g.14081_14083del - X54156.1(TP53):g.14081_14083del chr17 7518295 7518296 TP53_g.14037T>C - X54156.1(TP53):g.14037T>C chr17 7518950 7518951 TP53_g.13383A>T - X54156.1(TP53):g.13383A>T chr17 7518322 7518323 TP53_g.14010A>G - X54156.1(TP53):g.14010A>G chr17 7517620 7517621 TP53_g.14711A>G - X54156.1(TP53):g.14711A>G chr17 7519003 7519004 TP53_g.13330T>A - X54156.1(TP53):g.13330T>A chr17 7519191 7519192 TP53_g.13142A>G - X54156.1(TP53):g.13142A>G chr17 7519129 7519130 TP53_g.13204C>G - X54156.1(TP53):g.13204C>G chr17 7519170 7519171 TP53_g.13163A>T - X54156.1(TP53):g.13163A>T chr17 7519136 7519137 TP53_g.13197T>C - X54156.1(TP53):g.13197T>C chr17 7518259 7518260 TP53_g.14073G>C - X54156.1(TP53):g.14073G>C chr17 7517836 7517837 TP53_g.14495G>C - X54156.1(TP53):g.14495G>C chr17 7518995 7518996 TP53_g.13338A>T - X54156.1(TP53):g.13338A>T chr17 7517816 7517817 TP53_g.14515G>A - X54156.1(TP53):g.14515G>A chr17 7520059 7520061 TP53_g.12275_12276ins2 - X54156.1(TP53):g.12275_12276ins2 chr17 7519198 7519200 TP53_g.13134_13135ins1 - X54156.1(TP53):g.13134_13135ins1 chr17 7517820 7517821 TP53_g.14511A>T - X54156.1(TP53):g.14511A>T chr17 7519259 7519260 TP53_g.13074A>T - X54156.1(TP53):g.13074A>T chr17 7517802 7517803 TP53_g.14529A>T - X54156.1(TP53):g.14529A>T chr17 7518928 7518931 TP53_g.13403_13405del - X54156.1(TP53):g.13403_13405del chr17 7514726 7514727 TP53_g.17603G>C - X54156.1(TP53):g.17603G>C chr17 7519163 7519164 TP53_g.13170A>G - X54156.1(TP53):g.13170A>G chr17 7517839 7517840 TP53_g.14492del - X54156.1(TP53):g.14492del chr17 7518927 7518928 TP53_g.13406G>A - X54156.1(TP53):g.13406G>A chr17 7519252 7519253 TP53_g.13081T>G - X54156.1(TP53):g.13081T>G chr17 7517853 7517856 TP53_g.14476_14478del - X54156.1(TP53):g.14476_14478del chr17 7518250 7518258 TP53_g.14075_14082del - X54156.1(TP53):g.14075_14082del chr17 7518270 7518271 TP53_g.14062C>T - X54156.1(TP53):g.14062C>T chr17 7518323 7518327 TP53_g.14006_14009del - X54156.1(TP53):g.14006_14009del chr17 7518994 7518995 TP53_g.13339T>A - X54156.1(TP53):g.13339T>A chr17 7520275 7520276 TP53_g.12060del - X54156.1(TP53):g.12060del chr17 7518912 7518913 TP53_g.13421G>T - X54156.1(TP53):g.13421G>T chr17 7520077 7520078 TP53_g.12258del - X54156.1(TP53):g.12258del chr17 7519008 7519010 TP53_g.13324_13325ins1 - X54156.1(TP53):g.13324_13325ins1 chr17 7519164 7519165 TP53_g.13169del - X54156.1(TP53):g.13169del chr17 7518239 7518240 TP53_g.14093A>T - X54156.1(TP53):g.14093A>T chr17 7518294 7518295 TP53_g.14038G>T - X54156.1(TP53):g.14038G>T chr17 7517753 7517777 TP53_g.14555_14578del - X54156.1(TP53):g.14555_14578del chr17 7518283 7518284 TP53_g.14049del - X54156.1(TP53):g.14049del chr17 7518901 7518902 TP53_g.13432G>T - X54156.1(TP53):g.13432G>T chr17 7517817 7517818 TP53_g.14514G>A - X54156.1(TP53):g.14514G>A chr17 7518263 7518264 TP53_g.14069del - X54156.1(TP53):g.14069del chr17 7518284 7518291 TP53_g.14042_14048del - X54156.1(TP53):g.14042_14048del chr17 7518261 7518262 TP53_g.14071G>A - X54156.1(TP53):g.14071G>A chr17 7517576 7517577 TP53_g.14755G>T - X54156.1(TP53):g.14755G>T chr17 7514742 7514743 TP53_g.17587C>T - X54156.1(TP53):g.17587C>T chr17 7520271 7520272 TP53_g.12064C>T - X54156.1(TP53):g.12064C>T chr17 7520283 7520284 TP53_g.12052T>A - X54156.1(TP53):g.12052T>A chr17 7520315 7520316 TP53_g.12020G>A - X54156.1(TP53):g.12020G>A chr17 7520194 7520195 TP53_g.12141del - X54156.1(TP53):g.12141del chr17 7520194 7520196 TP53_g.12140_12141ins1 - X54156.1(TP53):g.12140_12141ins1 chr17 7520164 7520165 TP53_g.12171del - X54156.1(TP53):g.12171del chr17 7520092 7520094 TP53_g.12242_12243ins3 - X54156.1(TP53):g.12242_12243ins3 chr17 7519139 7519140 TP53_g.13194T>A - X54156.1(TP53):g.13194T>A chr17 7519094 7519095 TP53_g.13239G>A - X54156.1(TP53):g.13239G>A chr17 7518983 7518984 TP53_g.13350T>G - X54156.1(TP53):g.13350T>G chr17 7518969 7518971 TP53_g.13363_13364ins15 - X54156.1(TP53):g.13363_13364ins15 chr17 7518293 7518294 TP53_g.14039T>G - X54156.1(TP53):g.14039T>G chr17 7517855 7517870 TP53_g.14462_14476del - X54156.1(TP53):g.14462_14476del chr17 7517770 7517771 TP53_g.14561del - X54156.1(TP53):g.14561del chr17 7517742 7517743 TP53_g.14589G>C - X54156.1(TP53):g.14589G>C chr17 7514724 7514725 TP53_g.17605G>T - X54156.1(TP53):g.17605G>T chr17 7518926 7518927 TP53_g.13407T>A - X54156.1(TP53):g.13407T>A chr17 7517808 7517812 TP53_g.14520_14523del - X54156.1(TP53):g.14520_14523del chr17 7518294 7518295 TP53_g.14038G>C - X54156.1(TP53):g.14038G>C chr17 7520163 7520165 TP53_g.12171_12172del - X54156.1(TP53):g.12171_12172del chr17 7518901 7518902 TP53_g.13432G>C - X54156.1(TP53):g.13432G>C chr17 7519003 7519006 TP53_g.13328_13330del - X54156.1(TP53):g.13328_13330del chr17 7518964 7518993 TP53_g.13341_13369del - X54156.1(TP53):g.13341_13369del chr17 7517859 7517860 TP53_g.14472A>G - X54156.1(TP53):g.14472A>G chr17 7517578 7517580 TP53_g.14752_14753ins2 - X54156.1(TP53):g.14752_14753ins2 chr17 7519249 7519250 TP53_g.13084C>A - X54156.1(TP53):g.13084C>A chr17 7518903 7518919 TP53_g.13415_13430del - X54156.1(TP53):g.13415_13430del chr17 7517651 7517658 TP53_g.14674_14680del - X54156.1(TP53):g.14674_14680del chr17 7518901 7518902 TP53_g.13432G>A - X54156.1(TP53):g.13432G>A chr17 7517776 7517777 TP53_g.14555C>G - X54156.1(TP53):g.14555C>G chr17 7519230 7519231 TP53_g.13103del - X54156.1(TP53):g.13103del chr17 7519233 7519235 TP53_g.13099_13100ins14 - X54156.1(TP53):g.13099_13100ins14 chr17 7519113 7519114 TP53_g.13220C>T - X54156.1(TP53):g.13220C>T chr17 7517879 7517880 TP53_g.14452T>C - X54156.1(TP53):g.14452T>C chr17 7517790 7517791 TP53_g.14541A>G - X54156.1(TP53):g.14541A>G chr17 7519235 7519236 TP53_g.13098C>T - X54156.1(TP53):g.13098C>T chr17 7517748 7517749 TP53_g.14583A>G - X54156.1(TP53):g.14583A>G chr17 7519188 7519189 TP53_g.13145C>A - X54156.1(TP53):g.13145C>A chr17 7517744 7517745 TP53_g.14587A>T - X54156.1(TP53):g.14587A>T chr17 7518301 7518302 TP53_g.14031del - X54156.1(TP53):g.14031del chr17 7519180 7519182 TP53_g.13152_13153delinsTT - X54156.1(TP53):g.13152_13153delinsTT chr17 7518268 7518269 TP53_g.14064T>A - X54156.1(TP53):g.14064T>A chr17 7518932 7518933 TP53_g.13401A>C - X54156.1(TP53):g.13401A>C chr17 7518296 7518303 TP53_g.14030_14036del - X54156.1(TP53):g.14030_14036del chr17 7520068 7520069 TP53_g.12267C>T - X54156.1(TP53):g.12267C>T chr17 7519172 7519173 TP53_g.13161C>G - X54156.1(TP53):g.13161C>G chr17 7518280 7518281 TP53_g.14052G>C - X54156.1(TP53):g.14052G>C chr17 7518236 7518237 TP53_g.14096C>G - X54156.1(TP53):g.14096C>G chr17 7519278 7519279 TP53_g.13055T>G - X54156.1(TP53):g.13055T>G chr17 7517818 7517820 TP53_g.14512_14513delinsGT - X54156.1(TP53):g.14512_14513delinsGT chr17 7520183 7520243 TP53_g.12093_12152del - X54156.1(TP53):g.12093_12152del chr17 7520208 7520209 TP53_g.12127A>G - X54156.1(TP53):g.12127A>G chr17 7520079 7520080 TP53_g.12256T>G - X54156.1(TP53):g.12256T>G chr17 7519182 7519183 TP53_g.13151C>G - X54156.1(TP53):g.13151C>G chr17 7519178 7519179 TP53_g.13155C>T - X54156.1(TP53):g.13155C>T chr17 7518899 7518900 TP53_g.13434T>G - X54156.1(TP53):g.13434T>G chr17 7520252 7520253 TP53_g.12083G>C - X54156.1(TP53):g.12083G>C chr17 7519119 7519120 TP53_g.13214C>G - X54156.1(TP53):g.13214C>G chr17 7517838 7517839 TP53_g.14493G>T - X54156.1(TP53):g.14493G>T chr17 7517610 7517613 TP53_g.14719_14721del - X54156.1(TP53):g.14719_14721del chr17 7518908 7518909 TP53_g.13425C>T - X54156.1(TP53):g.13425C>T chr17 7519124 7519125 TP53_g.13209C>G - X54156.1(TP53):g.13209C>G chr17 7519097 7519098 TP53_g.13236A>G - X54156.1(TP53):g.13236A>G chr17 7518278 7518279 TP53_g.14054A>C - X54156.1(TP53):g.14054A>C chr17 7519184 7519185 TP53_g.13149T>G - X54156.1(TP53):g.13149T>G chr17 7518286 7518287 TP53_g.14046G>C - X54156.1(TP53):g.14046G>C chr17 7519129 7519131 TP53_g.13203_13204delinsAG - X54156.1(TP53):g.13203_13204delinsAG chr17 7518966 7518967 TP53_g.13367G>C - X54156.1(TP53):g.13367G>C chr17 7519225 7519227 TP53_g.13107_13108delinsGT - X54156.1(TP53):g.13107_13108delinsGT chr17 7518299 7518300 TP53_g.14033T>A - X54156.1(TP53):g.14033T>A chr17 7518253 7518254 TP53_g.14079T>G - X54156.1(TP53):g.14079T>G chr17 7519260 7519261 TP53_g.13073A>C - X54156.1(TP53):g.13073A>C chr17 7517879 7517880 TP53_g.14452T>G - X54156.1(TP53):g.14452T>G chr17 7517870 7517873 TP53_g.14459_14461del - X54156.1(TP53):g.14459_14461del chr17 7517824 7517825 TP53_g.14507A>G - X54156.1(TP53):g.14507A>G chr17 7520344 7520345 TP53_g.11991C>A - X54156.1(TP53):g.11991C>A chr17 7517868 7517869 TP53_g.14463T>G - X54156.1(TP53):g.14463T>G chr17 7518984 7518985 TP53_g.13349G>T - X54156.1(TP53):g.13349G>T chr17 7520105 7520108 TP53_g.12228_12230del - X54156.1(TP53):g.12228_12230del chr17 7520081 7520084 TP53_g.12252_12254del - X54156.1(TP53):g.12252_12254del chr17 7518936 7518937 TP53_g.13397C>A - X54156.1(TP53):g.13397C>A chr17 7518247 7518248 TP53_g.14085C>T - X54156.1(TP53):g.14085C>T chr17 7518989 7518990 TP53_g.13344T>C - X54156.1(TP53):g.13344T>C chr17 7519169 7519170 TP53_g.13164T>G - X54156.1(TP53):g.13164T>G chr17 7518239 7518240 TP53_g.14093del - X54156.1(TP53):g.14093del chr17 7517878 7517879 TP53_g.14453del - X54156.1(TP53):g.14453del chr17 7518371 7518373 TP53_g.13960_13961ins1 - X54156.1(TP53):g.13960_13961ins1 chr17 7518374 7518375 TP53_g.13958C>A - X54156.1(TP53):g.13958C>A chr17 7517785 7517786 TP53_g.14546G>T - X54156.1(TP53):g.14546G>T chr17 7519364 7519365 TP53_g.12969T>C - X54156.1(TP53):g.12969T>C chr17 7517743 7517745 TP53_g.14587_14588ins1 - X54156.1(TP53):g.14587_14588ins1 chr17 7519062 7519063 TP53_g.13271T>G - X54156.1(TP53):g.13271T>G chr17 7519025 7519026 TP53_g.13308G>A - X54156.1(TP53):g.13308G>A chr17 7517793 7517794 TP53_g.14538G>T - X54156.1(TP53):g.14538G>T chr17 7517800 7517801 TP53_g.14531del - X54156.1(TP53):g.14531del chr17 7518291 7518292 TP53_g.14041T>C - X54156.1(TP53):g.14041T>C chr17 7519254 7519255 TP53_g.13079T>A - X54156.1(TP53):g.13079T>A chr17 7519134 7519136 TP53_g.13198_13199ins12 - X54156.1(TP53):g.13198_13199ins12 chr17 7519121 7519122 TP53_g.13212A>C - X54156.1(TP53):g.13212A>C chr17 7519142 7519143 TP53_g.13191A>G - X54156.1(TP53):g.13191A>G chr17 7519014 7519015 TP53_g.13319G>A - X54156.1(TP53):g.13319G>A chr17 7519242 7519243 TP53_g.13091del - X54156.1(TP53):g.13091del chr17 7518928 7518929 TP53_g.13405T>G - X54156.1(TP53):g.13405T>G chr17 7518265 7518267 TP53_g.14066_14067del - X54156.1(TP53):g.14066_14067del chr17 7518976 7518991 TP53_g.13343_13357del - X54156.1(TP53):g.13343_13357del chr17 7518255 7518264 TP53_g.14069_14077del - X54156.1(TP53):g.14069_14077del chr17 7518290 7518292 TP53_g.14041_14042ins3 - X54156.1(TP53):g.14041_14042ins3 chr17 7517840 7517852 TP53_g.14480_14491del - X54156.1(TP53):g.14480_14491del chr17 7519001 7519002 TP53_g.13332C>T - X54156.1(TP53):g.13332C>T chr17 7518933 7518934 TP53_g.13400C>G - X54156.1(TP53):g.13400C>G chr17 7518899 7518900 TP53_g.13434T>C - X54156.1(TP53):g.13434T>C chr17 7519261 7519264 TP53_g.13070_13072del - X54156.1(TP53):g.13070_13072del chr17 7520043 7520044 TP53_g.12292C>T - X54156.1(TP53):g.12292C>T chr17 7519188 7519189 TP53_g.13145del - X54156.1(TP53):g.13145del chr17 7518241 7518242 TP53_g.14091T>C - X54156.1(TP53):g.14091T>C chr17 7519218 7519219 TP53_g.13115T>G - X54156.1(TP53):g.13115T>G chr17 7520193 7520194 TP53_g.12142T>A - X54156.1(TP53):g.12142T>A chr17 7519159 7519160 TP53_g.13174G>T - X54156.1(TP53):g.13174G>T chr17 7517632 7517633 TP53_g.14699G>A - X54156.1(TP53):g.14699G>A chr17 7519190 7519191 TP53_g.13143C>A - X54156.1(TP53):g.13143C>A chr17 7519161 7519165 TP53_g.13169_13172del - X54156.1(TP53):g.13169_13172del chr17 7519155 7519156 TP53_g.13178del - X54156.1(TP53):g.13178del chr17 7519137 7519138 TP53_g.13196G>T - X54156.1(TP53):g.13196G>T chr17 7519107 7519108 TP53_g.13226T>C - X54156.1(TP53):g.13226T>C chr17 7518924 7518925 TP53_g.13409G>T - X54156.1(TP53):g.13409G>T chr17 7518902 7518903 TP53_g.13431A>G - X54156.1(TP53):g.13431A>G chr17 7517833 7517837 TP53_g.14495_14498del - X54156.1(TP53):g.14495_14498del chr17 7517796 7517797 TP53_g.14535T>G - X54156.1(TP53):g.14535T>G chr17 7517612 7517613 TP53_g.14719A>T - X54156.1(TP53):g.14719A>T chr17 7518983 7518985 TP53_g.13349_13350ins1 - X54156.1(TP53):g.13349_13350ins1 chr17 7520082 7520083 TP53_g.12253G>C - X54156.1(TP53):g.12253G>C chr17 7514759 7514760 TP53_g.17570A>T - X54156.1(TP53):g.17570A>T chr17 7517847 7517848 TP53_g.14484T>C - X54156.1(TP53):g.14484T>C chr17 7518974 7518975 TP53_g.13359A>C - X54156.1(TP53):g.13359A>C chr17 7518181 7518182 TP53_g.14151C>T - X54156.1(TP53):g.14151C>T chr17 7519181 7519182 TP53_g.13152G>C - X54156.1(TP53):g.13152G>C chr17 7520120 7520121 TP53_g.12215C>T - X54156.1(TP53):g.12215C>T chr17 7520105 7520106 TP53_g.12230C>T - X54156.1(TP53):g.12230C>T chr17 7520145 7520146 TP53_g.12190C>T - X54156.1(TP53):g.12190C>T chr17 7517792 7517793 TP53_g.14539C>T - X54156.1(TP53):g.14539C>T chr17 7518231 7518232 TP53_g.14101A>C - X54156.1(TP53):g.14101A>C chr17 7517863 7517864 TP53_g.14468C>T - X54156.1(TP53):g.14468C>T chr17 7518201 7518225 TP53_g.14108_14131del - X54156.1(TP53):g.14108_14131del chr17 7518992 7518993 TP53_g.13341T>C - X54156.1(TP53):g.13341T>C chr17 7518253 7518254 TP53_g.14079T>C - X54156.1(TP53):g.14079T>C chr17 7519265 7519266 TP53_g.13068T>G - X54156.1(TP53):g.13068T>G chr17 7519136 7519137 TP53_g.13197T>A - X54156.1(TP53):g.13197T>A chr17 7518925 7518928 TP53_g.13406_13408del - X54156.1(TP53):g.13406_13408del chr17 7518929 7518930 TP53_g.13404G>T - X54156.1(TP53):g.13404G>T chr17 7517822 7517837 TP53_g.14495_14509del - X54156.1(TP53):g.14495_14509del chr17 7519002 7519003 TP53_g.13331del - X54156.1(TP53):g.13331del chr17 7518297 7518300 TP53_g.14033_14035del - X54156.1(TP53):g.14033_14035del chr17 7519186 7519192 TP53_g.13142_13147del - X54156.1(TP53):g.13142_13147del chr17 7518284 7518285 TP53_g.14048T>G - X54156.1(TP53):g.14048T>G chr17 7517842 7517843 TP53_g.14489G>A - X54156.1(TP53):g.14489G>A chr17 7519157 7519159 TP53_g.13175_13176delinsGG - X54156.1(TP53):g.13175_13176delinsGG chr17 7518281 7518282 TP53_g.14051T>G - X54156.1(TP53):g.14051T>G chr17 7519257 7519258 TP53_g.13076A>C - X54156.1(TP53):g.13076A>C chr17 7517872 7517873 TP53_g.14459C>A - X54156.1(TP53):g.14459C>A chr17 7519128 7519129 TP53_g.13205T>C - X54156.1(TP53):g.13205T>C chr17 7519267 7519270 TP53_g.13064_13066del - X54156.1(TP53):g.13064_13066del chr17 7518917 7518918 TP53_g.13416C>T - X54156.1(TP53):g.13416C>T chr17 7519173 7519174 TP53_g.13160G>T - X54156.1(TP53):g.13160G>T chr17 7519137 7519139 TP53_g.13195_13196ins1 - X54156.1(TP53):g.13195_13196ins1 chr17 7519187 7519188 TP53_g.13146G>T - X54156.1(TP53):g.13146G>T chr17 7517854 7517855 TP53_g.14477T>C - X54156.1(TP53):g.14477T>C chr17 7518332 7518333 TP53_g.14000G>C - X54156.1(TP53):g.14000G>C chr17 7517829 7517830 TP53_g.14502C>A - X54156.1(TP53):g.14502C>A chr17 7519126 7519128 TP53_g.13206_13207ins2 - X54156.1(TP53):g.13206_13207ins2 chr17 7518318 7518320 TP53_g.14013_14014del - X54156.1(TP53):g.14013_14014del chr17 7519126 7519127 TP53_g.13207C>G - X54156.1(TP53):g.13207C>G chr17 7518960 7518961 TP53_g.13373del - X54156.1(TP53):g.13373del chr17 7518290 7518291 TP53_g.14042del - X54156.1(TP53):g.14042del chr17 7517837 7517838 TP53_g.14494T>G - X54156.1(TP53):g.14494T>G chr17 7519182 7519183 TP53_g.13151del - X54156.1(TP53):g.13151del chr17 7517877 7517878 TP53_g.14454del - X54156.1(TP53):g.14454del chr17 7518257 7518259 TP53_g.14074_14075delinsTG - X54156.1(TP53):g.14074_14075delinsTG chr17 7519223 7519224 TP53_g.13110A>T - X54156.1(TP53):g.13110A>T chr17 7519149 7519150 TP53_g.13184del - X54156.1(TP53):g.13184del chr17 7519221 7519222 TP53_g.13112C>G - X54156.1(TP53):g.13112C>G chr17 7520248 7520250 TP53_g.12086_12087ins1 - X54156.1(TP53):g.12086_12087ins1 chr17 7520252 7520253 TP53_g.12083G>A - X54156.1(TP53):g.12083G>A chr17 7518303 7518306 TP53_g.14027_14029delinsCAG - X54156.1(TP53):g.14027_14029delinsCAG chr17 7519258 7519279 TP53_g.13055_13075del - X54156.1(TP53):g.13055_13075del chr17 7518291 7518294 TP53_g.14039_14041del - X54156.1(TP53):g.14039_14041del chr17 7514711 7514712 TP53_g.17618C>G - X54156.1(TP53):g.17618C>G chr17 7518290 7518293 TP53_g.14040_14042del - X54156.1(TP53):g.14040_14042del chr17 7518278 7518280 TP53_g.14053_14054ins3 - X54156.1(TP53):g.14053_14054ins3 chr17 7518290 7518291 TP53_g.14042A>T - X54156.1(TP53):g.14042A>T chr17 7517760 7517762 TP53_g.14570_14571del - X54156.1(TP53):g.14570_14571del chr17 7517676 7517765 TP53_g.14567_14655del - X54156.1(TP53):g.14567_14655del chr17 7517825 7517840 TP53_g.14492_14506del - X54156.1(TP53):g.14492_14506del chr17 7518942 7518943 TP53_g.13391A>G - X54156.1(TP53):g.13391A>G chr17 7520075 7520076 TP53_g.12260C>A - X54156.1(TP53):g.12260C>A chr17 7519136 7519138 TP53_g.13196_13197ins18 - X54156.1(TP53):g.13196_13197ins18 chr17 7518305 7518306 TP53_g.14027T>C - X54156.1(TP53):g.14027T>C chr17 7520205 7520206 TP53_g.12130C>A - X54156.1(TP53):g.12130C>A chr17 7519108 7519126 TP53_g.13208_13225del - X54156.1(TP53):g.13208_13225del chr17 7518924 7518926 TP53_g.13408_13409ins8 - X54156.1(TP53):g.13408_13409ins8 chr17 7518216 7518252 TP53_g.14081_14116del - X54156.1(TP53):g.14081_14116del chr17 7517742 7517743 TP53_g.14589G>T - X54156.1(TP53):g.14589G>T chr17 7518323 7518324 TP53_g.14009G>T - X54156.1(TP53):g.14009G>T chr17 7518314 7518315 TP53_g.14018del - X54156.1(TP53):g.14018del chr17 7518273 7518274 TP53_g.14059C>T - X54156.1(TP53):g.14059C>T chr17 7517847 7517848 TP53_g.14484T>A - X54156.1(TP53):g.14484T>A chr17 7517845 7517847 TP53_g.14485_14486delinsAA - X54156.1(TP53):g.14485_14486delinsAA chr17 7519274 7519275 TP53_g.13059C>A - X54156.1(TP53):g.13059C>A chr17 7519242 7519243 TP53_g.13091G>C - X54156.1(TP53):g.13091G>C chr17 7520031 7520032 TP53_g.12304G>A - X54156.1(TP53):g.12304G>A chr17 7520079 7520080 TP53_g.12256T>A - X54156.1(TP53):g.12256T>A chr17 7518281 7518282 TP53_g.14051T>A - X54156.1(TP53):g.14051T>A chr17 7519035 7519036 TP53_g.13298A>G - X54156.1(TP53):g.13298A>G chr17 7519233 7519234 TP53_g.13100T>C - X54156.1(TP53):g.13100T>C chr17 7517839 7517840 TP53_g.14492T>C - X54156.1(TP53):g.14492T>C chr17 7517877 7517878 TP53_g.14454G>T - X54156.1(TP53):g.14454G>T chr17 7519259 7519260 TP53_g.13074A>C - X54156.1(TP53):g.13074A>C chr17 7518951 7518952 TP53_g.13382G>A - X54156.1(TP53):g.13382G>A chr17 7517769 7517770 TP53_g.14562A>T - X54156.1(TP53):g.14562A>T chr17 7517857 7517858 TP53_g.14474A>C - X54156.1(TP53):g.14474A>C chr17 7517848 7517849 TP53_g.14483G>C - X54156.1(TP53):g.14483G>C chr17 7517866 7517867 TP53_g.14465G>C - X54156.1(TP53):g.14465G>C chr17 7519183 7519184 TP53_g.13150C>A - X54156.1(TP53):g.13150C>A chr17 7518945 7518946 TP53_g.13388A>G - X54156.1(TP53):g.13388A>G chr17 7519239 7519241 TP53_g.13093_13094ins4 - X54156.1(TP53):g.13093_13094ins4 chr17 7518959 7518960 TP53_g.13374A>C - X54156.1(TP53):g.13374A>C chr17 7518966 7518968 TP53_g.13366_13367ins8 - X54156.1(TP53):g.13366_13367ins8 chr17 7518291 7518292 TP53_g.14041T>A - X54156.1(TP53):g.14041T>A chr17 7518936 7518937 TP53_g.13397C>G - X54156.1(TP53):g.13397C>G chr17 7519185 7519186 TP53_g.13148G>A - X54156.1(TP53):g.13148G>A chr17 7519188 7519189 TP53_g.13145C>G - X54156.1(TP53):g.13145C>G chr17 7518321 7518323 TP53_g.14010_14011del - X54156.1(TP53):g.14010_14011del chr17 7518287 7518289 TP53_g.14044_14045ins3 - X54156.1(TP53):g.14044_14045ins3 chr17 7519199 7519200 TP53_g.13134C>G - X54156.1(TP53):g.13134C>G chr17 7518946 7518948 TP53_g.13386_13387del - X54156.1(TP53):g.13386_13387del chr17 7519173 7519175 TP53_g.13159_13160delinsTT - X54156.1(TP53):g.13159_13160delinsTT chr17 7519167 7519168 TP53_g.13166T>C - X54156.1(TP53):g.13166T>C chr17 7518920 7518921 TP53_g.13413T>G - X54156.1(TP53):g.13413T>G chr17 7518996 7518998 TP53_g.13336_13337delinsCA - X54156.1(TP53):g.13336_13337delinsCA chr17 7520129 7520144 TP53_g.12192_12206del - X54156.1(TP53):g.12192_12206del chr17 7519118 7519119 TP53_g.13215A>T - X54156.1(TP53):g.13215A>T chr17 7517845 7517846 TP53_g.14486C>G - X54156.1(TP53):g.14486C>G chr17 7518238 7518247 TP53_g.14086_14094del - X54156.1(TP53):g.14086_14094del chr17 7518289 7518290 TP53_g.14043A>C - X54156.1(TP53):g.14043A>C chr17 7520133 7520134 TP53_g.12202del - X54156.1(TP53):g.12202del chr17 7518232 7518233 TP53_g.14100A>C - X54156.1(TP53):g.14100A>C chr17 7520045 7520046 TP53_g.12290G>A - X54156.1(TP53):g.12290G>A chr17 7519184 7519186 TP53_g.13148_13149ins6 - X54156.1(TP53):g.13148_13149ins6 chr17 7518323 7518325 TP53_g.14008_14009ins1 - X54156.1(TP53):g.14008_14009ins1 chr17 7518947 7518948 TP53_g.13386G>A - X54156.1(TP53):g.13386G>A chr17 7518896 7518897 TP53_g.13437G>A - X54156.1(TP53):g.13437G>A chr17 7519271 7519272 TP53_g.13062C>G - X54156.1(TP53):g.13062C>G chr17 7518331 7518333 TP53_g.14000_14001del - X54156.1(TP53):g.14000_14001del chr17 7520167 7520168 TP53_g.12168C>T - X54156.1(TP53):g.12168C>T chr17 7519161 7519169 TP53_g.13165_13172del - X54156.1(TP53):g.13165_13172del chr17 7518997 7518998 TP53_g.13336G>C - X54156.1(TP53):g.13336G>C chr17 7518230 7518231 TP53_g.14102G>T - X54156.1(TP53):g.14102G>T chr17 7520198 7520211 TP53_g.12125_12137del - X54156.1(TP53):g.12125_12137del chr17 7519195 7519202 TP53_g.13132_13138del - X54156.1(TP53):g.13132_13138del chr17 7518914 7518925 TP53_g.13409_13419del - X54156.1(TP53):g.13409_13419del chr17 7519208 7519209 TP53_g.13125C>T - X54156.1(TP53):g.13125C>T chr17 7519125 7519126 TP53_g.13208C>T - X54156.1(TP53):g.13208C>T chr17 7518302 7518303 TP53_g.14030A>G - X54156.1(TP53):g.14030A>G chr17 7517807 7517808 TP53_g.14524G>T - X54156.1(TP53):g.14524G>T chr17 7519172 7519173 TP53_g.13161C>A - X54156.1(TP53):g.13161C>A chr17 7520266 7520267 TP53_g.12069G>A - X54156.1(TP53):g.12069G>A chr17 7519265 7519266 TP53_g.13068T>C - X54156.1(TP53):g.13068T>C chr17 7520085 7520086 TP53_g.12250T>G - X54156.1(TP53):g.12250T>G chr17 7519193 7519220 TP53_g.13114_13140del - X54156.1(TP53):g.13114_13140del chr17 7519185 7519187 TP53_g.13147_13148ins1 - X54156.1(TP53):g.13147_13148ins1 chr17 7519153 7519156 TP53_g.13178_13180del - X54156.1(TP53):g.13178_13180del chr17 7519195 7519201 TP53_g.13133_13138del - X54156.1(TP53):g.13133_13138del chr17 7518981 7518982 TP53_g.13352G>A - X54156.1(TP53):g.13352G>A chr17 7517773 7517774 TP53_g.14558C>T - X54156.1(TP53):g.14558C>T chr17 7517822 7517840 TP53_g.14492_14509del - X54156.1(TP53):g.14492_14509del chr17 7519259 7519261 TP53_g.13073_13074del - X54156.1(TP53):g.13073_13074del chr17 7519190 7519205 TP53_g.13129_13143del - X54156.1(TP53):g.13129_13143del chr17 7518974 7518975 TP53_g.13359del - X54156.1(TP53):g.13359del chr17 7519277 7519278 TP53_g.13056A>G - X54156.1(TP53):g.13056A>G chr17 7519112 7519113 TP53_g.13221G>T - X54156.1(TP53):g.13221G>T chr17 7519280 7519281 TP53_g.13053A>G - X54156.1(TP53):g.13053A>G chr17 7519187 7519193 TP53_g.13141_13146del - X54156.1(TP53):g.13141_13146del chr17 7518935 7518936 TP53_g.13398G>C - X54156.1(TP53):g.13398G>C chr17 7517853 7517854 TP53_g.14478T>C - X54156.1(TP53):g.14478T>C chr17 7520098 7520099 TP53_g.12237G>A - X54156.1(TP53):g.12237G>A chr17 7519166 7519167 TP53_g.13167A>C - X54156.1(TP53):g.13167A>C chr17 7518915 7518916 TP53_g.13418T>C - X54156.1(TP53):g.13418T>C chr17 7518289 7518291 TP53_g.14042_14043ins1 - X54156.1(TP53):g.14042_14043ins1 chr17 7518903 7518904 TP53_g.13430G>T - X54156.1(TP53):g.13430G>T chr17 7520175 7520176 TP53_g.12160C>T - X54156.1(TP53):g.12160C>T chr17 7520266 7520267 TP53_g.12069G>T - X54156.1(TP53):g.12069G>T chr17 7518307 7518308 TP53_g.14025del - X54156.1(TP53):g.14025del chr17 7520036 7520037 TP53_g.12299G>T - X54156.1(TP53):g.12299G>T chr17 7518365 7518376 TP53_g.13957_13967delinscccagagccca - X54156.1(TP53):g.13957_13967delinscccagagccca chr17 7519219 7519221 TP53_g.13113_13114ins2 - X54156.1(TP53):g.13113_13114ins2 chr17 7519278 7519279 TP53_g.13055T>A - X54156.1(TP53):g.13055T>A chr17 7518325 7518326 TP53_g.14007C>T - X54156.1(TP53):g.14007C>T chr17 7520148 7520149 TP53_g.12187del - X54156.1(TP53):g.12187del chr17 7518990 7518991 TP53_g.13343A>T - X54156.1(TP53):g.13343A>T chr17 7518989 7518991 TP53_g.13343_13344delinsTA - X54156.1(TP53):g.13343_13344delinsTA chr17 7519251 7519252 TP53_g.13082T>A - X54156.1(TP53):g.13082T>A chr17 7518999 7519001 TP53_g.13333_13334ins40 - X54156.1(TP53):g.13333_13334ins40 chr17 7519280 7519281 TP53_g.13053del - X54156.1(TP53):g.13053del chr17 7520074 7520075 TP53_g.12261T>A - X54156.1(TP53):g.12261T>A chr17 7520041 7520042 TP53_g.12294T>C - X54156.1(TP53):g.12294T>C chr17 7518984 7518986 TP53_g.13348_13349ins2 - X54156.1(TP53):g.13348_13349ins2 chr17 7517841 7517842 TP53_g.14490T>C - X54156.1(TP53):g.14490T>C chr17 7518961 7518963 TP53_g.13371_13372ins1 - X54156.1(TP53):g.13371_13372ins1 chr17 7518995 7518996 TP53_g.13338A>C - X54156.1(TP53):g.13338A>C chr17 7518936 7518937 TP53_g.13397del - X54156.1(TP53):g.13397del chr17 7519133 7519134 TP53_g.13200G>A - X54156.1(TP53):g.13200G>A chr17 7519173 7519174 TP53_g.13160del - X54156.1(TP53):g.13160del chr17 7519176 7519177 TP53_g.13157del - X54156.1(TP53):g.13157del chr17 7519229 7519266 TP53_g.13068_13104del - X54156.1(TP53):g.13068_13104del chr17 7519187 7519189 TP53_g.13145_13146delinsGT - X54156.1(TP53):g.13145_13146delinsGT chr17 7519185 7519186 TP53_g.13148del - X54156.1(TP53):g.13148del chr17 7518297 7518303 TP53_g.14030_14035del - X54156.1(TP53):g.14030_14035del chr17 7519279 7519280 TP53_g.13054G>T - X54156.1(TP53):g.13054G>T chr17 7519134 7519135 TP53_g.13199A>T - X54156.1(TP53):g.13199A>T chr17 7517844 7517846 TP53_g.14486_14487delinsTA - X54156.1(TP53):g.14486_14487delinsTA chr17 7519101 7519105 TP53_g.13229_13232del - X54156.1(TP53):g.13229_13232del chr17 7518288 7518289 TP53_g.14044C>G - X54156.1(TP53):g.14044C>G chr17 7518240 7518241 TP53_g.14092C>G - X54156.1(TP53):g.14092C>G chr17 7518920 7518921 TP53_g.13413T>C - X54156.1(TP53):g.13413T>C chr17 7520144 7520145 TP53_g.12191C>T - X54156.1(TP53):g.12191C>T chr17 7520072 7520073 TP53_g.12263C>T - X54156.1(TP53):g.12263C>T chr17 7517883 7517884 TP53_g.14448G>A - X54156.1(TP53):g.14448G>A chr17 7519095 7519097 TP53_g.13237_13238ins2 - X54156.1(TP53):g.13237_13238ins2 chr17 7518314 7518316 TP53_g.14017_14018ins1 - X54156.1(TP53):g.14017_14018ins1 chr17 7519260 7519262 TP53_g.13072_13073ins1 - X54156.1(TP53):g.13072_13073ins1 chr17 7517746 7517747 TP53_g.14585del - X54156.1(TP53):g.14585del chr17 7518972 7518973 TP53_g.13361del - X54156.1(TP53):g.13361del chr17 7518945 7518946 TP53_g.13388A>C - X54156.1(TP53):g.13388A>C chr17 7518968 7518969 TP53_g.13365G>T - X54156.1(TP53):g.13365G>T chr17 7520118 7520119 TP53_g.12217C>T - X54156.1(TP53):g.12217C>T chr17 7518905 7518907 TP53_g.13427_13428del - X54156.1(TP53):g.13427_13428del chr17 7518929 7518930 TP53_g.13404G>A - X54156.1(TP53):g.13404G>A chr17 7517598 7517599 TP53_g.14733T>C - X54156.1(TP53):g.14733T>C chr17 7519276 7519277 TP53_g.13057C>T - X54156.1(TP53):g.13057C>T chr17 7517610 7517611 TP53_g.14721G>A - X54156.1(TP53):g.14721G>A chr17 7513697 7513698 TP53_g.18634G>A - X54156.1(TP53):g.18634G>A chr17 7519081 7519083 TP53_g.13251_13252del - X54156.1(TP53):g.13251_13252del chr17 7517737 7517738 TP53_g.14594C>T - X54156.1(TP53):g.14594C>T chr17 7520624 7520625 TP53_g.11729C>T - X54156.1(TP53):g.11729C>T chr17 7520169 7520170 TP53_g.12166C>T - X54156.1(TP53):g.12166C>T chr17 7520160 7520161 TP53_g.12175C>T - X54156.1(TP53):g.12175C>T chr17 7520052 7520053 TP53_g.12283A>T - X54156.1(TP53):g.12283A>T chr17 7517869 7517870 TP53_g.14462C>T - X54156.1(TP53):g.14462C>T chr17 7517788 7517789 TP53_g.14543A>C - X54156.1(TP53):g.14543A>C chr17 7517585 7517587 TP53_g.14745_14746ins14 - X54156.1(TP53):g.14745_14746ins14 chr17 7517842 7517846 TP53_g.14486_14489del - X54156.1(TP53):g.14486_14489del chr17 7514708 7514709 TP53_g.17621T>A - X54156.1(TP53):g.17621T>A chr17 7519119 7519120 TP53_g.13214C>A - X54156.1(TP53):g.13214C>A chr17 7517839 7517840 TP53_g.14492T>G - X54156.1(TP53):g.14492T>G chr17 7518289 7518303 TP53_g.14030_14043del - X54156.1(TP53):g.14030_14043del chr17 7517585 7517586 TP53_g.14746del - X54156.1(TP53):g.14746del chr17 7520178 7520179 TP53_g.12157C>T - X54156.1(TP53):g.12157C>T chr17 7519131 7519132 TP53_g.13202C>A - X54156.1(TP53):g.13202C>A chr17 7517768 7517769 TP53_g.14563G>A - X54156.1(TP53):g.14563G>A chr17 7519082 7519083 TP53_g.13251G>A - X54156.1(TP53):g.13251G>A chr17 7519227 7519228 TP53_g.13106del - X54156.1(TP53):g.13106del chr17 7519181 7519186 TP53_g.13148_13152del - X54156.1(TP53):g.13148_13152del chr17 7518319 7518320 TP53_g.14013G>A - X54156.1(TP53):g.14013G>A chr17 7518234 7518235 TP53_g.14098G>A - X54156.1(TP53):g.14098G>A chr17 7518923 7518924 TP53_g.13410T>C - X54156.1(TP53):g.13410T>C chr17 7519224 7519225 TP53_g.13109C>T - X54156.1(TP53):g.13109C>T chr17 7518960 7518962 TP53_g.13372_13373ins7 - X54156.1(TP53):g.13372_13373ins7 chr17 7519164 7519165 TP53_g.13169A>C - X54156.1(TP53):g.13169A>C chr17 7518243 7518252 TP53_g.14081_14089del - X54156.1(TP53):g.14081_14089del chr17 7517844 7517845 TP53_g.14487G>C - X54156.1(TP53):g.14487G>C chr17 7519222 7519225 TP53_g.13109_13111del - X54156.1(TP53):g.13109_13111del chr17 7519236 7519237 TP53_g.13097del - X54156.1(TP53):g.13097del chr17 7519248 7519249 TP53_g.13085C>G - X54156.1(TP53):g.13085C>G chr17 7519098 7519099 TP53_g.13235G>T - X54156.1(TP53):g.13235G>T chr17 7519095 7519096 TP53_g.13238G>T - X54156.1(TP53):g.13238G>T chr17 7518257 7518258 TP53_g.14075C>G - X54156.1(TP53):g.14075C>G chr17 7517820 7517821 TP53_g.14511A>G - X54156.1(TP53):g.14511A>G chr17 7517743 7517744 TP53_g.14588G>A - X54156.1(TP53):g.14588G>A chr17 7517804 7517828 TP53_g.14504_14527del - X54156.1(TP53):g.14504_14527del chr17 7519160 7519161 TP53_g.13173A>T - X54156.1(TP53):g.13173A>T chr17 7518310 7518311 TP53_g.14022T>G - X54156.1(TP53):g.14022T>G chr17 7519110 7519111 TP53_g.13223del - X54156.1(TP53):g.13223del chr17 7517865 7517879 TP53_g.14453_14466del - X54156.1(TP53):g.14453_14466del chr17 7518254 7518255 TP53_g.14078del - X54156.1(TP53):g.14078del chr17 7518268 7518276 TP53_g.14057_14064del - X54156.1(TP53):g.14057_14064del chr17 7519118 7519135 TP53_g.13199_13215del - X54156.1(TP53):g.13199_13215del chr17 7519257 7519258 TP53_g.13076del - X54156.1(TP53):g.13076del chr17 7517851 7517852 TP53_g.14480G>T - X54156.1(TP53):g.14480G>T chr17 7519188 7519189 TP53_g.13145C>T - X54156.1(TP53):g.13145C>T chr17 7520167 7520180 TP53_g.12156_12168del - X54156.1(TP53):g.12156_12168del chr17 7517827 7517828 TP53_g.14504del - X54156.1(TP53):g.14504del chr17 7520269 7520273 TP53_g.12063_12066del - X54156.1(TP53):g.12063_12066del chr17 7518260 7518273 TP53_g.14060_14072del - X54156.1(TP53):g.14060_14072del chr17 7520085 7520090 TP53_g.12246_12250del - X54156.1(TP53):g.12246_12250del chr17 7518254 7518256 TP53_g.14077_14078ins4 - X54156.1(TP53):g.14077_14078ins4 chr17 7519117 7519118 TP53_g.13216T>G - X54156.1(TP53):g.13216T>G chr17 7517771 7517786 TP53_g.14546_14560del - X54156.1(TP53):g.14546_14560del chr17 7520170 7520171 TP53_g.12165del - X54156.1(TP53):g.12165del chr17 7518239 7518241 TP53_g.14092_14093ins28 - X54156.1(TP53):g.14092_14093ins28 chr17 7519220 7519221 TP53_g.13113T>A - X54156.1(TP53):g.13113T>A chr17 7518900 7518901 TP53_g.13433G>T - X54156.1(TP53):g.13433G>T chr17 7518314 7518315 TP53_g.14018A>T - X54156.1(TP53):g.14018A>T chr17 7518276 7518277 TP53_g.14056G>C - X54156.1(TP53):g.14056G>C chr17 7517761 7517762 TP53_g.14570C>G - X54156.1(TP53):g.14570C>G chr17 7519163 7519164 TP53_g.13170A>T - X54156.1(TP53):g.13170A>T chr17 7518949 7518950 TP53_g.13384C>A - X54156.1(TP53):g.13384C>A chr17 7518949 7518950 TP53_g.13384C>G - X54156.1(TP53):g.13384C>G chr17 7518927 7518928 TP53_g.13406G>T - X54156.1(TP53):g.13406G>T chr17 7519130 7519132 TP53_g.13202_13203del - X54156.1(TP53):g.13202_13203del chr17 7519152 7519153 TP53_g.13181C>A - X54156.1(TP53):g.13181C>A chr17 7519171 7519173 TP53_g.13161_13162delinsGA - X54156.1(TP53):g.13161_13162delinsGA chr17 7518381 7518383 TP53_g.13950_13951ins1 - X54156.1(TP53):g.13950_13951ins1 chr17 7519128 7519129 TP53_g.13205del - X54156.1(TP53):g.13205del chr17 7519117 7519118 TP53_g.13216T>A - X54156.1(TP53):g.13216T>A chr17 7518976 7518977 TP53_g.13357A>G - X54156.1(TP53):g.13357A>G chr17 7517802 7517803 TP53_g.14529A>G - X54156.1(TP53):g.14529A>G chr17 7519168 7519169 TP53_g.13165C>T - X54156.1(TP53):g.13165C>T chr17 7517607 7517608 TP53_g.14724A>G - X54156.1(TP53):g.14724A>G chr17 7519214 7519215 TP53_g.13119T>A - X54156.1(TP53):g.13119T>A chr17 7518998 7518999 TP53_g.13335A>G - X54156.1(TP53):g.13335A>G chr17 7519176 7519177 TP53_g.13157A>G - X54156.1(TP53):g.13157A>G chr17 7519225 7519226 TP53_g.13108G>A - X54156.1(TP53):g.13108G>A chr17 7519189 7519190 TP53_g.13144C>T - X54156.1(TP53):g.13144C>T chr17 7519191 7519192 TP53_g.13142del - X54156.1(TP53):g.13142del chr17 7519190 7519192 TP53_g.13142_13143del - X54156.1(TP53):g.13142_13143del chr17 7519271 7519272 TP53_g.13062C>T - X54156.1(TP53):g.13062C>T chr17 7518276 7518277 TP53_g.14056G>A - X54156.1(TP53):g.14056G>A chr17 7517860 7517861 TP53_g.14471A>C - X54156.1(TP53):g.14471A>C chr17 7517775 7517776 TP53_g.14556A>G - X54156.1(TP53):g.14556A>G chr17 7519095 7519096 TP53_g.13238del - X54156.1(TP53):g.13238del chr17 7518255 7518261 TP53_g.14072_14077del - X54156.1(TP53):g.14072_14077del chr17 7519251 7519253 TP53_g.13081_13082ins2 - X54156.1(TP53):g.13081_13082ins2 chr17 7520314 7520316 TP53_g.12020_12021ins1 - X54156.1(TP53):g.12020_12021ins1 chr17 7514727 7514729 TP53_g.17601_17602delinsTT - X54156.1(TP53):g.17601_17602delinsTT chr17 7520062 7520063 TP53_g.12273del - X54156.1(TP53):g.12273del chr17 7514736 7514737 TP53_g.17593G>T - X54156.1(TP53):g.17593G>T chr17 7519184 7519192 TP53_g.13142_13149del - X54156.1(TP53):g.13142_13149del chr17 7517831 7517832 TP53_g.14500T>A - X54156.1(TP53):g.14500T>A chr17 7518919 7518922 TP53_g.13412_13414del - X54156.1(TP53):g.13412_13414del chr17 7519014 7519015 TP53_g.13319G>C - X54156.1(TP53):g.13319G>C chr17 7518334 7518335 TP53_g.13998A>G - X54156.1(TP53):g.13998A>G chr17 7517830 7517832 TP53_g.14500_14501ins21 - X54156.1(TP53):g.14500_14501ins21 chr17 7519101 7519102 TP53_g.13232del - X54156.1(TP53):g.13232del chr17 7519279 7519280 TP53_g.13054G>C - X54156.1(TP53):g.13054G>C chr17 7518948 7518949 TP53_g.13385A>T - X54156.1(TP53):g.13385A>T chr17 7519128 7519130 TP53_g.13204_13205ins1 - X54156.1(TP53):g.13204_13205ins1 chr17 7520041 7520043 TP53_g.12293_12294ins1 - X54156.1(TP53):g.12293_12294ins1 chr17 7520033 7520048 TP53_g.12288_12302delins1 - X54156.1(TP53):g.12288_12302delins1 chr17 7520208 7520228 TP53_g.12108_12127del - X54156.1(TP53):g.12108_12127del chr17 7514729 7514737 TP53_g.17593_17600del - X54156.1(TP53):g.17593_17600del chr17 7520090 7520096 TP53_g.12240_12245delins4 - X54156.1(TP53):g.12240_12245delins4 chr17 7520034 7520036 TP53_g.12300_12301ins1 - X54156.1(TP53):g.12300_12301ins1 chr17 7520263 7520265 TP53_g.12071_12072ins1 - X54156.1(TP53):g.12071_12072ins1 chr17 7520090 7520102 TP53_g.12234_12245delins2 - X54156.1(TP53):g.12234_12245delins2 chr17 7517629 7517634 TP53_g.14698_14702del - X54156.1(TP53):g.14698_14702del chr17 7517779 7517780 TP53_g.14552C>T - X54156.1(TP53):g.14552C>T chr17 7519260 7519262 TP53_g.13072_13073ins2 - X54156.1(TP53):g.13072_13073ins2 chr17 7518299 7518301 TP53_g.14032_14033ins1 - X54156.1(TP53):g.14032_14033ins1 chr17 7518291 7518294 TP53_g.14039_14041delins2 - X54156.1(TP53):g.14039_14041delins2 chr17 7520035 7520042 TP53_g.12294_12300delins1 - X54156.1(TP53):g.12294_12300delins1 chr17 7514729 7514730 TP53_g.17600T>G - X54156.1(TP53):g.17600T>G chr17 7518281 7518282 TP53_g.14051del - X54156.1(TP53):g.14051del chr17 7517876 7517879 TP53_g.14453_14455del - X54156.1(TP53):g.14453_14455del chr17 7514672 7514673 TP53_g.17657G>T - X54156.1(TP53):g.17657G>T chr17 7518236 7518238 TP53_g.14095_14096ins1 - X54156.1(TP53):g.14095_14096ins1 chr17 7514662 7514663 TP53_g.17667G>A - X54156.1(TP53):g.17667G>A chr17 7518326 7518328 TP53_g.14005_14006ins1 - X54156.1(TP53):g.14005_14006ins1 chr17 7518284 7518285 TP53_g.14048del - X54156.1(TP53):g.14048del chr17 7519120 7519132 TP53_g.13202_13213delins3 - X54156.1(TP53):g.13202_13213delins3 chr17 7519188 7519201 TP53_g.13133_13145del - X54156.1(TP53):g.13133_13145del chr17 7518226 7518228 TP53_g.14105_14106del - X54156.1(TP53):g.14105_14106del chr17 7519239 7519240 TP53_g.13094A>C - X54156.1(TP53):g.13094A>C chr17 7519255 7519256 TP53_g.13078G>A - X54156.1(TP53):g.13078G>A chr17 7517757 7517771 TP53_g.14561_14574del - X54156.1(TP53):g.14561_14574del chr17 7517835 7517836 TP53_g.14496C>G - X54156.1(TP53):g.14496C>G chr17 7519188 7519207 TP53_g.13127_13145del - X54156.1(TP53):g.13127_13145del chr17 7518921 7518923 TP53_g.13411_13412ins5 - X54156.1(TP53):g.13411_13412ins5 chr17 7518273 7518274 TP53_g.14059C>G - X54156.1(TP53):g.14059C>G chr17 7519115 7519116 TP53_g.13218A>G - X54156.1(TP53):g.13218A>G chr17 7518959 7518960 TP53_g.13374A>T - X54156.1(TP53):g.13374A>T chr17 7518939 7518940 TP53_g.13394T>C - X54156.1(TP53):g.13394T>C chr17 7518920 7518921 TP53_g.13413T>A - X54156.1(TP53):g.13413T>A chr17 7518914 7518915 TP53_g.13419A>C - X54156.1(TP53):g.13419A>C chr17 7518248 7518249 TP53_g.14084A>G - X54156.1(TP53):g.14084A>G chr17 7518244 7518245 TP53_g.14088T>G - X54156.1(TP53):g.14088T>G chr17 7518235 7518236 TP53_g.14097T>C - X54156.1(TP53):g.14097T>C chr17 7519275 7519276 TP53_g.13058T>C - X54156.1(TP53):g.13058T>C chr17 7519220 7519221 TP53_g.13113T>G - X54156.1(TP53):g.13113T>G chr17 7518268 7518269 TP53_g.14064T>C - X54156.1(TP53):g.14064T>C chr17 7520304 7520305 TP53_g.12031C>T - X54156.1(TP53):g.12031C>T chr17 7520437 7520438 TP53_g.11914A>C - X54156.1(TP53):g.11914A>C chr17 7517621 7517623 TP53_g.14709_14710ins1 - X54156.1(TP53):g.14709_14710ins1 chr17 7519854 7520054 TP53_g.12282_12481del - X54156.1(TP53):g.12282_12481del chr17 7520079 7520090 TP53_g.12246_12256del - X54156.1(TP53):g.12246_12256del chr17 7519154 7519155 TP53_g.13179A>G - X54156.1(TP53):g.13179A>G chr17 7518928 7518943 TP53_g.13391_13405del - X54156.1(TP53):g.13391_13405del chr17 7518909 7518916 TP53_g.13418_13424del - X54156.1(TP53):g.13418_13424del chr17 7518320 7518321 TP53_g.14012T>G - X54156.1(TP53):g.14012T>G chr17 7518246 7518249 TP53_g.14084_14086del - X54156.1(TP53):g.14084_14086del chr17 7517754 7517759 TP53_g.14573_14577del - X54156.1(TP53):g.14573_14577del chr17 7519238 7519239 TP53_g.13095A>G - X54156.1(TP53):g.13095A>G chr17 7519223 7519224 TP53_g.13110A>C - X54156.1(TP53):g.13110A>C chr17 7518940 7518941 TP53_g.13393T>C - X54156.1(TP53):g.13393T>C chr17 7519147 7519148 TP53_g.13186G>A - X54156.1(TP53):g.13186G>A chr17 7519205 7519206 TP53_g.13128C>T - X54156.1(TP53):g.13128C>T chr17 7518263 7518265 TP53_g.14068_14069delinsTT - X54156.1(TP53):g.14068_14069delinsTT chr17 7518938 7518939 TP53_g.13395T>C - X54156.1(TP53):g.13395T>C chr17 7518969 7518970 TP53_g.13364C>A - X54156.1(TP53):g.13364C>A chr17 7518917 7518918 TP53_g.13416C>A - X54156.1(TP53):g.13416C>A chr17 7518285 7518286 TP53_g.14047T>G - X54156.1(TP53):g.14047T>G chr17 7519162 7519163 TP53_g.13171G>T - X54156.1(TP53):g.13171G>T chr17 7518953 7518954 TP53_g.13380A>G - X54156.1(TP53):g.13380A>G chr17 7519143 7519144 TP53_g.13190G>A - X54156.1(TP53):g.13190G>A chr17 7518253 7518254 TP53_g.14079T>A - X54156.1(TP53):g.14079T>A chr17 7517748 7517749 TP53_g.14583A>T - X54156.1(TP53):g.14583A>T chr17 7519125 7519126 TP53_g.13208del - X54156.1(TP53):g.13208del chr17 7520107 7520108 TP53_g.12228del - X54156.1(TP53):g.12228del chr17 7520111 7520112 TP53_g.12224G>A - X54156.1(TP53):g.12224G>A chr17 7517829 7517831 TP53_g.14501_14502del - X54156.1(TP53):g.14501_14502del chr17 7514716 7514737 TP53_g.17593_17613del - X54156.1(TP53):g.17593_17613del chr17 7518268 7518269 TP53_g.14064T>G - X54156.1(TP53):g.14064T>G chr17 7519266 7519268 TP53_g.13066_13067ins6 - X54156.1(TP53):g.13066_13067ins6 chr17 7514757 7514758 TP53_g.17572del - X54156.1(TP53):g.17572del chr17 7517596 7517597 TP53_g.14735G>A - X54156.1(TP53):g.14735G>A chr17 7518307 7518308 TP53_g.14025A>T - X54156.1(TP53):g.14025A>T chr17 7519106 7519107 TP53_g.13227C>T - X54156.1(TP53):g.13227C>T chr17 7518320 7518321 TP53_g.14012T>C - X54156.1(TP53):g.14012T>C chr17 7518323 7518324 TP53_g.14009G>A - X54156.1(TP53):g.14009G>A chr17 7518254 7518255 TP53_g.14078A>G - X54156.1(TP53):g.14078A>G chr17 7518225 7518226 TP53_g.14107C>T - X54156.1(TP53):g.14107C>T chr17 7519096 7519097 TP53_g.13237T>C - X54156.1(TP53):g.13237T>C chr17 7519081 7519099 TP53_g.13235_13252del - X54156.1(TP53):g.13235_13252del chr17 7518276 7518278 TP53_g.14055_14056delinsCA - X54156.1(TP53):g.14055_14056delinsCA chr17 7519230 7519231 TP53_g.13103C>A - X54156.1(TP53):g.13103C>A chr17 7519222 7519223 TP53_g.13111G>T - X54156.1(TP53):g.13111G>T chr17 7519231 7519240 TP53_g.13094_13102del - X54156.1(TP53):g.13094_13102del chr17 7519123 7519129 TP53_g.13205_13210del - X54156.1(TP53):g.13205_13210del chr17 7519237 7519238 TP53_g.13096G>T - X54156.1(TP53):g.13096G>T chr17 7514741 7514742 TP53_g.17588G>T - X54156.1(TP53):g.17588G>T chr17 7520161 7520222 TP53_g.12114_12174del - X54156.1(TP53):g.12114_12174del chr17 7520146 7520148 TP53_g.12188_12189ins1 - X54156.1(TP53):g.12188_12189ins1 chr17 7520089 7520090 TP53_g.12246del - X54156.1(TP53):g.12246del chr17 7520083 7520085 TP53_g.12251_12252ins14 - X54156.1(TP53):g.12251_12252ins14 chr17 7520041 7520043 TP53_g.12293_12294ins5 - X54156.1(TP53):g.12293_12294ins5 chr17 7517848 7517850 TP53_g.14482_14483ins2 - X54156.1(TP53):g.14482_14483ins2 chr17 7517794 7517795 TP53_g.14537del - X54156.1(TP53):g.14537del chr17 7518279 7518291 TP53_g.14042_14053del - X54156.1(TP53):g.14042_14053del chr17 7517798 7517810 TP53_g.14522_14533del - X54156.1(TP53):g.14522_14533del chr17 7514716 7514728 TP53_g.17602_17613del - X54156.1(TP53):g.17602_17613del chr17 7520034 7520035 TP53_g.12301T>G - X54156.1(TP53):g.12301T>G chr17 7519280 7519281 TP53_g.13053A>C - X54156.1(TP53):g.13053A>C chr17 7518333 7518334 TP53_g.13999G>T - X54156.1(TP53):g.13999G>T chr17 7518222 7518223 TP53_g.14110G>T - X54156.1(TP53):g.14110G>T chr17 7517577 7517651 TP53_g.14681_14754del - X54156.1(TP53):g.14681_14754del chr17 7514739 7514740 TP53_g.17590T>A - X54156.1(TP53):g.17590T>A chr17 7518216 7518225 TP53_g.14108_14116del - X54156.1(TP53):g.14108_14116del chr17 7520090 7520091 TP53_g.12245C>G - X54156.1(TP53):g.12245C>G chr17 7518930 7518932 TP53_g.13402_13403del - X54156.1(TP53):g.13402_13403del chr17 7518277 7518278 TP53_g.14055T>C - X54156.1(TP53):g.14055T>C chr17 7518978 7518979 TP53_g.13355G>T - X54156.1(TP53):g.13355G>T chr17 7518281 7518283 TP53_g.14050_14051ins8 - X54156.1(TP53):g.14050_14051ins8 chr17 7517777 7517781 TP53_g.14551_14554delinsACC - X54156.1(TP53):g.14551_14554delinsACC chr17 7520137 7520139 TP53_g.12197_12198del - X54156.1(TP53):g.12197_12198del chr17 7519121 7519123 TP53_g.13211_13212ins1 - X54156.1(TP53):g.13211_13212ins1 chr17 7518298 7518300 TP53_g.14033_14034ins1 - X54156.1(TP53):g.14033_14034ins1 chr17 7520076 7520078 TP53_g.12258_12259del - X54156.1(TP53):g.12258_12259del chr17 7518279 7518280 TP53_g.14053C>A - X54156.1(TP53):g.14053C>A chr17 7519196 7519197 TP53_g.13137C>T - X54156.1(TP53):g.13137C>T chr17 7517866 7517867 TP53_g.14465del - X54156.1(TP53):g.14465del chr17 7519154 7519155 TP53_g.13179del - X54156.1(TP53):g.13179del chr17 7520057 7520071 TP53_g.12265_12278del - X54156.1(TP53):g.12265_12278del chr17 7518239 7518241 TP53_g.14092_14093ins1 - X54156.1(TP53):g.14092_14093ins1 chr17 7519185 7519187 TP53_g.13147_13148ins4 - X54156.1(TP53):g.13147_13148ins4 chr17 7519265 7519279 TP53_g.13055_13068del - X54156.1(TP53):g.13055_13068del chr17 7518287 7518289 TP53_g.14044_14045ins7 - X54156.1(TP53):g.14044_14045ins7 chr17 7519197 7519210 TP53_g.13124_13136del - X54156.1(TP53):g.13124_13136del chr17 7520173 7520174 TP53_g.12162del - X54156.1(TP53):g.12162del chr17 7520082 7520093 TP53_g.12243_12253del - X54156.1(TP53):g.12243_12253del chr17 7518325 7518327 TP53_g.14006_14007del - X54156.1(TP53):g.14006_14007del chr17 7518927 7518929 TP53_g.13405_13406ins2 - X54156.1(TP53):g.13405_13406ins2 chr17 7518941 7518943 TP53_g.13391_13392del - X54156.1(TP53):g.13391_13392del chr17 7520125 7520127 TP53_g.12209_12210ins1 - X54156.1(TP53):g.12209_12210ins1 chr17 7518328 7518329 TP53_g.14004G>T - X54156.1(TP53):g.14004G>T chr17 7520209 7520210 TP53_g.12126del - X54156.1(TP53):g.12126del chr17 7518994 7518995 TP53_g.13339del - X54156.1(TP53):g.13339del chr17 7518999 7519008 TP53_g.13326_13334del - X54156.1(TP53):g.13326_13334del chr17 7519202 7519203 TP53_g.13131C>A - X54156.1(TP53):g.13131C>A chr17 7520091 7520097 TP53_g.12239_12244del - X54156.1(TP53):g.12239_12244del chr17 7519140 7519142 TP53_g.13192_13193ins1 - X54156.1(TP53):g.13192_13193ins1 chr17 7519149 7519151 TP53_g.13183_13184ins2 - X54156.1(TP53):g.13183_13184ins2 chr17 7518252 7518253 TP53_g.14080del - X54156.1(TP53):g.14080del chr17 7520042 7520049 TP53_g.12287_12293del - X54156.1(TP53):g.12287_12293del chr17 7520110 7520111 TP53_g.12225del - X54156.1(TP53):g.12225del chr17 7520048 7520050 TP53_g.12286_12287del - X54156.1(TP53):g.12286_12287del chr17 7518992 7518993 TP53_g.13341del - X54156.1(TP53):g.13341del chr17 7520209 7520211 TP53_g.12125_12126ins1 - X54156.1(TP53):g.12125_12126ins1 chr17 7520165 7520166 TP53_g.12170G>A - X54156.1(TP53):g.12170G>A chr17 7517827 7517829 TP53_g.14503_14504ins15 - X54156.1(TP53):g.14503_14504ins15 chr17 7519167 7519168 TP53_g.13166T>G - X54156.1(TP53):g.13166T>G chr17 7518275 7518277 TP53_g.14056_14057delinsAA - X54156.1(TP53):g.14056_14057delinsAA chr17 7518996 7518997 TP53_g.13337C>G - X54156.1(TP53):g.13337C>G chr17 7518939 7518940 TP53_g.13394T>G - X54156.1(TP53):g.13394T>G chr17 7518333 7518334 TP53_g.13999G>A - X54156.1(TP53):g.13999G>A chr17 7517760 7517761 TP53_g.14571C>A - X54156.1(TP53):g.14571C>A chr17 7517566 7517567 TP53_g.14765T>C - X54156.1(TP53):g.14765T>C chr17 7517652 7517653 TP53_g.14679A>G - X54156.1(TP53):g.14679A>G chr17 7519222 7519223 TP53_g.13111G>C - X54156.1(TP53):g.13111G>C chr17 7518317 7518318 TP53_g.14015A>T - X54156.1(TP53):g.14015A>T chr17 7518971 7518973 TP53_g.13361_13362delinsCC - X54156.1(TP53):g.13361_13362delinsCC chr17 7519218 7519219 TP53_g.13115T>C - X54156.1(TP53):g.13115T>C chr17 7519262 7519263 TP53_g.13071A>G - X54156.1(TP53):g.13071A>G chr17 7519231 7519232 TP53_g.13102C>A - X54156.1(TP53):g.13102C>A chr17 7519230 7519267 TP53_g.13067_13103del - X54156.1(TP53):g.13067_13103del chr17 7519122 7519138 TP53_g.13196_13211del - X54156.1(TP53):g.13196_13211del chr17 7519245 7519247 TP53_g.13087_13088ins1 - X54156.1(TP53):g.13087_13088ins1 chr17 7518982 7518983 TP53_g.13351G>A - X54156.1(TP53):g.13351G>A chr17 7518205 7518206 TP53_g.14127A>T - X54156.1(TP53):g.14127A>T chr17 7520435 7520437 TP53_g.11915_11916ins1 - X54156.1(TP53):g.11915_11916ins1 chr17 7519264 7519266 TP53_g.13068_13069ins18 - X54156.1(TP53):g.13068_13069ins18 chr17 7519016 7519017 TP53_g.13317T>G - X54156.1(TP53):g.13317T>G chr17 7518966 7518988 TP53_g.13346_13367del - X54156.1(TP53):g.13346_13367del chr17 7518979 7518985 TP53_g.13349_13354del - X54156.1(TP53):g.13349_13354del chr17 7518239 7518241 TP53_g.14092_14093ins12 - X54156.1(TP53):g.14092_14093ins12 chr17 7517856 7517880 TP53_g.14452_14475del - X54156.1(TP53):g.14452_14475del chr17 7517576 7517577 TP53_g.14755G>C - X54156.1(TP53):g.14755G>C chr17 7520146 7520148 TP53_g.12188_12189ins11 - X54156.1(TP53):g.12188_12189ins11 chr17 7520074 7520075 TP53_g.12261T>G - X54156.1(TP53):g.12261T>G chr17 7519227 7519237 TP53_g.13097_13106del - X54156.1(TP53):g.13097_13106del chr17 7519155 7519156 TP53_g.13178C>T - X54156.1(TP53):g.13178C>T chr17 7520432 7520434 TP53_g.11918_11919delinsGG - X54156.1(TP53):g.11918_11919delinsGG chr17 7520251 7520252 TP53_g.12084del - X54156.1(TP53):g.12084del chr17 7520281 7520282 TP53_g.12054del - X54156.1(TP53):g.12054del chr17 7520083 7520085 TP53_g.12251_12252ins6 - X54156.1(TP53):g.12251_12252ins6 chr17 7519252 7519253 TP53_g.13081T>A - X54156.1(TP53):g.13081T>A chr17 7519233 7519235 TP53_g.13099_13100ins2 - X54156.1(TP53):g.13099_13100ins2 chr17 7518317 7518318 TP53_g.14015del - X54156.1(TP53):g.14015del chr17 7518300 7518303 TP53_g.14030_14032del - X54156.1(TP53):g.14030_14032del chr17 7517876 7517877 TP53_g.14455T>C - X54156.1(TP53):g.14455T>C chr17 7517811 7517858 TP53_g.14474_14520del - X54156.1(TP53):g.14474_14520del chr17 7519179 7519181 TP53_g.13153_13154ins6 - X54156.1(TP53):g.13153_13154ins6 chr17 7518972 7518999 TP53_g.13335_13361del - X54156.1(TP53):g.13335_13361del chr17 7518296 7518297 TP53_g.14036del - X54156.1(TP53):g.14036del chr17 7518273 7518276 TP53_g.14057_14059del - X54156.1(TP53):g.14057_14059del chr17 7518281 7518284 TP53_g.14049_14051del - X54156.1(TP53):g.14049_14051del chr17 7520300 7520302 TP53_g.12034_12035del - X54156.1(TP53):g.12034_12035del chr17 7520543 7520565 TP53_g.11789_11810del - X54156.1(TP53):g.11789_11810del chr17 7517632 7517634 TP53_g.14698_14699ins74 - X54156.1(TP53):g.14698_14699ins74 chr17 7520258 7520276 TP53_g.12060_12077del - X54156.1(TP53):g.12060_12077del chr17 7519215 7519222 TP53_g.13112_13118del - X54156.1(TP53):g.13112_13118del chr17 7519008 7519009 TP53_g.13325G>T - X54156.1(TP53):g.13325G>T chr17 7519128 7519129 TP53_g.13205T>A - X54156.1(TP53):g.13205T>A chr17 7519216 7519218 TP53_g.13116_13117delinsA - X54156.1(TP53):g.13116_13117delinsA chr17 7519254 7519255 TP53_g.13079T>C - X54156.1(TP53):g.13079T>C chr17 7519226 7519243 TP53_g.13091_13107del - X54156.1(TP53):g.13091_13107del chr17 7517841 7517842 TP53_g.14490T>G - X54156.1(TP53):g.14490T>G chr17 7520090 7520091 TP53_g.12245C>A - X54156.1(TP53):g.12245C>A chr17 7519256 7519257 TP53_g.13077T>A - X54156.1(TP53):g.13077T>A chr17 7519151 7519152 TP53_g.13182A>C - X54156.1(TP53):g.13182A>C chr17 7519140 7519141 TP53_g.13193G>T - X54156.1(TP53):g.13193G>T chr17 7519131 7519132 TP53_g.13202del - X54156.1(TP53):g.13202del chr17 7518947 7518948 TP53_g.13386del - X54156.1(TP53):g.13386del chr17 7518269 7518274 TP53_g.14059_14063del - X54156.1(TP53):g.14059_14063del chr17 7517770 7517771 TP53_g.14561G>C - X54156.1(TP53):g.14561G>C chr17 7514690 7514691 TP53_g.17639A>G - X54156.1(TP53):g.17639A>G chr17 7520606 7520607 TP53_g.11747G>C - X54156.1(TP53):g.11747G>C chr17 7518915 7518916 TP53_g.13418T>A - X54156.1(TP53):g.13418T>A chr17 7514736 7514737 TP53_g.17593G>C - X54156.1(TP53):g.17593G>C chr17 7513658 7513659 TP53_g.18673C>T - X54156.1(TP53):g.18673C>T chr17 7520436 7520439 TP53_g.11913_11915delinsCA - X54156.1(TP53):g.11913_11915delinsCA chr17 7519181 7519183 TP53_g.13151_13152ins3 - X54156.1(TP53):g.13151_13152ins3 chr17 7513703 7513733 TP53_g.18599_18628del - X54156.1(TP53):g.18599_18628del chr17 7517607 7517648 TP53_g.14684_14724del - X54156.1(TP53):g.14684_14724del chr17 7518244 7518245 TP53_g.14088T>A - X54156.1(TP53):g.14088T>A chr17 7519117 7519135 TP53_g.13199_13216del - X54156.1(TP53):g.13199_13216del chr17 7518293 7518294 TP53_g.14039T>C - X54156.1(TP53):g.14039T>C chr17 7519272 7519273 TP53_g.13061C>T - X54156.1(TP53):g.13061C>T chr17 7519140 7519141 TP53_g.13193del - X54156.1(TP53):g.13193del chr17 7519270 7519271 TP53_g.13063T>G - X54156.1(TP53):g.13063T>G chr17 7518295 7518296 TP53_g.14037T>A - X54156.1(TP53):g.14037T>A chr17 7518301 7518306 TP53_g.14027_14031del - X54156.1(TP53):g.14027_14031del chr17 7518945 7518946 TP53_g.13388del - X54156.1(TP53):g.13388del chr17 7518911 7518925 TP53_g.13409_13422del - X54156.1(TP53):g.13409_13422del chr17 7518306 7518312 TP53_g.14021_14026del - X54156.1(TP53):g.14021_14026del chr17 7518280 7518291 TP53_g.14042_14052del - X54156.1(TP53):g.14042_14052del chr17 7519146 7519153 TP53_g.13181_13187del - X54156.1(TP53):g.13181_13187del chr17 7519240 7519241 TP53_g.13093C>T - X54156.1(TP53):g.13093C>T chr17 7519128 7519130 TP53_g.13204_13205delinsTA - X54156.1(TP53):g.13204_13205delinsTA chr17 7519155 7519156 TP53_g.13178C>A - X54156.1(TP53):g.13178C>A chr17 7519151 7519152 TP53_g.13182A>T - X54156.1(TP53):g.13182A>T chr17 7519142 7519143 TP53_g.13191A>T - X54156.1(TP53):g.13191A>T chr17 7518309 7518310 TP53_g.14023C>A - X54156.1(TP53):g.14023C>A chr17 7518916 7518917 TP53_g.13417C>G - X54156.1(TP53):g.13417C>G chr17 7518316 7518317 TP53_g.14016C>A - X54156.1(TP53):g.14016C>A chr17 7518955 7518956 TP53_g.13378G>C - X54156.1(TP53):g.13378G>C chr17 7518278 7518279 TP53_g.14054del - X54156.1(TP53):g.14054del chr17 7519272 7519273 TP53_g.13061del - X54156.1(TP53):g.13061del chr17 7518963 7518965 TP53_g.13369_13370ins2 - X54156.1(TP53):g.13369_13370ins2 chr17 7519254 7519256 TP53_g.13078_13079ins1 - X54156.1(TP53):g.13078_13079ins1 chr17 7518288 7518297 TP53_g.14036_14044del - X54156.1(TP53):g.14036_14044del chr17 7517812 7517814 TP53_g.14518_14519ins8 - X54156.1(TP53):g.14518_14519ins8 chr17 7517577 7517578 TP53_g.14754G>T - X54156.1(TP53):g.14754G>T chr17 7519239 7519240 TP53_g.13094del - X54156.1(TP53):g.13094del chr17 7519237 7519238 TP53_g.13096G>A - X54156.1(TP53):g.13096G>A chr17 7519171 7519172 TP53_g.13162C>T - X54156.1(TP53):g.13162C>T chr17 7519269 7519270 TP53_g.13064G>A - X54156.1(TP53):g.13064G>A chr17 7520097 7520098 TP53_g.12238G>T - X54156.1(TP53):g.12238G>T chr17 7517822 7517828 TP53_g.14504_14509del - X54156.1(TP53):g.14504_14509del chr17 7517806 7517807 TP53_g.14525del - X54156.1(TP53):g.14525del chr17 7519118 7519119 TP53_g.13215A>C - X54156.1(TP53):g.13215A>C chr17 7517719 7517720 TP53_g.14612G>A - X54156.1(TP53):g.14612G>A chr17 7517749 7517751 TP53_g.14581_14582ins1 - X54156.1(TP53):g.14581_14582ins1 chr17 7519226 7519234 TP53_g.13100_13107del - X54156.1(TP53):g.13100_13107del chr17 7518931 7518932 TP53_g.13402T>C - X54156.1(TP53):g.13402T>C chr17 7517813 7517814 TP53_g.14518C>G - X54156.1(TP53):g.14518C>G chr17 7518269 7518270 TP53_g.14063del - X54156.1(TP53):g.14063del chr17 7519165 7519166 TP53_g.13168C>T - X54156.1(TP53):g.13168C>T chr17 7519117 7519120 TP53_g.13214_13216delinsTAG - X54156.1(TP53):g.13214_13216delinsTAG chr17 7517805 7517806 TP53_g.14526A>C - X54156.1(TP53):g.14526A>C chr17 7519216 7519246 TP53_g.13088_13117del - X54156.1(TP53):g.13088_13117del chr17 7519114 7519126 TP53_g.13208_13219del - X54156.1(TP53):g.13208_13219del chr17 7520083 7520084 TP53_g.12252del - X54156.1(TP53):g.12252del chr17 7519170 7519174 TP53_g.13160_13163del - X54156.1(TP53):g.13160_13163del chr17 7519155 7519165 TP53_g.13169_13178del - X54156.1(TP53):g.13169_13178del chr17 7519200 7519201 TP53_g.13133del - X54156.1(TP53):g.13133del chr17 7519167 7519168 TP53_g.13166del - X54156.1(TP53):g.13166del chr17 7519138 7519139 TP53_g.13195T>G - X54156.1(TP53):g.13195T>G chr17 7518970 7518971 TP53_g.13363G>A - X54156.1(TP53):g.13363G>A chr17 7517818 7517819 TP53_g.14513del - X54156.1(TP53):g.14513del chr17 7517787 7517788 TP53_g.14544A>G - X54156.1(TP53):g.14544A>G chr17 7517780 7517781 TP53_g.14551G>A - X54156.1(TP53):g.14551G>A chr17 7517779 7517780 TP53_g.14552del - X54156.1(TP53):g.14552del chr17 7517775 7517776 TP53_g.14556A>T - X54156.1(TP53):g.14556A>T chr17 7517772 7517773 TP53_g.14559A>C - X54156.1(TP53):g.14559A>C chr17 7517828 7517829 TP53_g.14503T>C - X54156.1(TP53):g.14503T>C chr17 7519179 7519180 TP53_g.13154G>A - X54156.1(TP53):g.13154G>A chr17 7519149 7519150 TP53_g.13184A>G - X54156.1(TP53):g.13184A>G chr17 7519113 7519114 TP53_g.13220C>G - X54156.1(TP53):g.13220C>G chr17 7517766 7517767 TP53_g.14565T>C - X54156.1(TP53):g.14565T>C chr17 7519117 7519129 TP53_g.13205_13216del - X54156.1(TP53):g.13205_13216del chr17 7518922 7518928 TP53_g.13406_13411del - X54156.1(TP53):g.13406_13411del chr17 7519177 7519210 TP53_g.13124_13156del - X54156.1(TP53):g.13124_13156del chr17 7518926 7518928 TP53_g.13406_13407del - X54156.1(TP53):g.13406_13407del chr17 7517776 7517777 TP53_g.14555C>A - X54156.1(TP53):g.14555C>A chr17 7517623 7517625 TP53_g.14707_14708del - X54156.1(TP53):g.14707_14708del chr17 7520102 7520103 TP53_g.12233C>A - X54156.1(TP53):g.12233C>A chr17 7518960 7518962 TP53_g.13372_13373ins2 - X54156.1(TP53):g.13372_13373ins2 chr17 7518966 7518967 TP53_g.13367del - X54156.1(TP53):g.13367del chr17 7518257 7518258 TP53_g.14075del - X54156.1(TP53):g.14075del chr17 7517880 7517881 TP53_g.14451G>T - X54156.1(TP53):g.14451G>T chr17 7517862 7517863 TP53_g.14469G>C - X54156.1(TP53):g.14469G>C chr17 7518231 7518240 TP53_g.14093_14101del - X54156.1(TP53):g.14093_14101del chr17 7519242 7519265 TP53_g.13069_13091del - X54156.1(TP53):g.13069_13091del chr17 7519258 7519259 TP53_g.13075G>A - X54156.1(TP53):g.13075G>A chr17 7519268 7519269 TP53_g.13065C>T - X54156.1(TP53):g.13065C>T chr17 7519110 7519111 TP53_g.13223T>C - X54156.1(TP53):g.13223T>C chr17 7519201 7519202 TP53_g.13132C>T - X54156.1(TP53):g.13132C>T chr17 7519245 7519246 TP53_g.13088C>T - X54156.1(TP53):g.13088C>T chr17 7518943 7518944 TP53_g.13390C>T - X54156.1(TP53):g.13390C>T chr17 7518988 7518989 TP53_g.13345C>T - X54156.1(TP53):g.13345C>T chr17 7518986 7518988 TP53_g.13346_13347delinsTC - X54156.1(TP53):g.13346_13347delinsTC chr17 7518925 7518926 TP53_g.13408G>A - X54156.1(TP53):g.13408G>A chr17 7519180 7519181 TP53_g.13153C>A - X54156.1(TP53):g.13153C>A chr17 7519132 7519133 TP53_g.13201G>A - X54156.1(TP53):g.13201G>A chr17 7519264 7519265 TP53_g.13069C>T - X54156.1(TP53):g.13069C>T chr17 7518309 7518310 TP53_g.14023C>T - X54156.1(TP53):g.14023C>T chr17 7518236 7518237 TP53_g.14096C>T - X54156.1(TP53):g.14096C>T chr17 7518308 7518309 TP53_g.14024C>T - X54156.1(TP53):g.14024C>T chr17 7517770 7517771 TP53_g.14561G>A - X54156.1(TP53):g.14561G>A chr17 7517757 7517758 TP53_g.14574G>A - X54156.1(TP53):g.14574G>A chr17 7517856 7517857 TP53_g.14475G>A - X54156.1(TP53):g.14475G>A chr17 7517834 7517835 TP53_g.14497C>T - X54156.1(TP53):g.14497C>T chr17 7517762 7517763 TP53_g.14569C>T - X54156.1(TP53):g.14569C>T chr17 7517846 7517847 TP53_g.14485G>A - X54156.1(TP53):g.14485G>A chr17 7519268 7519269 TP53_g.13065C>A - X54156.1(TP53):g.13065C>A chr17 7519246 7519247 TP53_g.13087A>G - X54156.1(TP53):g.13087A>G chr17 7519228 7519229 TP53_g.13105T>C - X54156.1(TP53):g.13105T>C chr17 7519206 7519207 TP53_g.13127A>G - X54156.1(TP53):g.13127A>G chr17 7519138 7519139 TP53_g.13195T>C - X54156.1(TP53):g.13195T>C chr17 7519207 7519208 TP53_g.13126C>T - X54156.1(TP53):g.13126C>T chr17 7518913 7518914 TP53_g.13420T>G - X54156.1(TP53):g.13420T>G chr17 7514741 7514742 TP53_g.17588G>C - X54156.1(TP53):g.17588G>C chr17 7519095 7519141 TP53_g.13193_13238del - X54156.1(TP53):g.13193_13238del chr17 7519079 7519096 TP53_g.13238_13254del - X54156.1(TP53):g.13238_13254del chr17 7519254 7519255 TP53_g.13079del - X54156.1(TP53):g.13079del chr17 7519210 7519213 TP53_g.13121_13123del - X54156.1(TP53):g.13121_13123del chr17 7519193 7519198 TP53_g.13136_13140del - X54156.1(TP53):g.13136_13140del chr17 7519168 7519186 TP53_g.13148_13165del - X54156.1(TP53):g.13148_13165del chr17 7519157 7519168 TP53_g.13166_13176del - X54156.1(TP53):g.13166_13176del chr17 7519149 7519168 TP53_g.13166_13184del - X54156.1(TP53):g.13166_13184del chr17 7519151 7519156 TP53_g.13178_13182del - X54156.1(TP53):g.13178_13182del chr17 7519143 7519144 TP53_g.13190del - X54156.1(TP53):g.13190del chr17 7519114 7519132 TP53_g.13202_13219del - X54156.1(TP53):g.13202_13219del chr17 7518938 7518940 TP53_g.13394_13395del - X54156.1(TP53):g.13394_13395del chr17 7518296 7518298 TP53_g.14035_14036ins6 - X54156.1(TP53):g.14035_14036ins6 chr17 7518290 7518292 TP53_g.14041_14042ins4 - X54156.1(TP53):g.14041_14042ins4 chr17 7517819 7517825 TP53_g.14507_14512del - X54156.1(TP53):g.14507_14512del chr17 7517797 7517816 TP53_g.14516_14534del - X54156.1(TP53):g.14516_14534del chr17 7517875 7517876 TP53_g.14456A>G - X54156.1(TP53):g.14456A>G chr17 7518245 7518246 TP53_g.14087A>G - X54156.1(TP53):g.14087A>G chr17 7517581 7517582 TP53_g.14750T>G - X54156.1(TP53):g.14750T>G chr17 7519211 7519225 TP53_g.13109_13122del - X54156.1(TP53):g.13109_13122del chr17 7520037 7520038 TP53_g.12298C>G - X54156.1(TP53):g.12298C>G chr17 7520161 7520165 TP53_g.12171_12174del - X54156.1(TP53):g.12171_12174del chr17 7520089 7520105 TP53_g.12231_12246del - X54156.1(TP53):g.12231_12246del chr17 7518231 7518232 TP53_g.14101del - X54156.1(TP53):g.14101del chr17 7514727 7514728 TP53_g.17602del - X54156.1(TP53):g.17602del chr17 7519131 7519133 TP53_g.13201_13202ins1 - X54156.1(TP53):g.13201_13202ins1 chr17 7518302 7518304 TP53_g.14029_14030ins3 - X54156.1(TP53):g.14029_14030ins3 chr17 7518199 7518225 TP53_g.14108_14133del - X54156.1(TP53):g.14108_14133del chr17 7519100 7519101 TP53_g.13233del - X54156.1(TP53):g.13233del chr17 7518929 7518930 TP53_g.13404del - X54156.1(TP53):g.13404del chr17 7519116 7519117 TP53_g.13217G>C - X54156.1(TP53):g.13217G>C chr17 7519098 7519099 TP53_g.13235G>C - X54156.1(TP53):g.13235G>C chr17 7519159 7519161 TP53_g.13173_13174ins1 - X54156.1(TP53):g.13173_13174ins1 chr17 7517872 7517873 TP53_g.14459C>G - X54156.1(TP53):g.14459C>G chr17 7517783 7517784 TP53_g.14548G>C - X54156.1(TP53):g.14548G>C chr17 7518939 7518940 TP53_g.13394T>A - X54156.1(TP53):g.13394T>A chr17 7518992 7518994 TP53_g.13340_13341ins1 - X54156.1(TP53):g.13340_13341ins1 chr17 7517861 7517862 TP53_g.14470G>T - X54156.1(TP53):g.14470G>T chr17 7518944 7518945 TP53_g.13389A>C - X54156.1(TP53):g.13389A>C chr17 7519154 7519155 TP53_g.13179A>T - X54156.1(TP53):g.13179A>T chr17 7517779 7517781 TP53_g.14551_14552ins1 - X54156.1(TP53):g.14551_14552ins1 chr17 7518944 7518945 TP53_g.13389A>G - X54156.1(TP53):g.13389A>G chr17 7518269 7518281 TP53_g.14052_14063del - X54156.1(TP53):g.14052_14063del chr17 7519128 7519129 TP53_g.13205T>G - X54156.1(TP53):g.13205T>G chr17 7518332 7518334 TP53_g.13999_14000ins5 - X54156.1(TP53):g.13999_14000ins5 chr17 7518331 7518333 TP53_g.14000_14001ins69 - X54156.1(TP53):g.14000_14001ins69 chr17 7514757 7514759 TP53_g.17571_17572ins133 - X54156.1(TP53):g.17571_17572ins133 chr17 7520157 7520159 TP53_g.12177_12178del - X54156.1(TP53):g.12177_12178del chr17 7519236 7519254 TP53_g.13080_13097del - X54156.1(TP53):g.13080_13097del chr17 7518286 7518333 TP53_g.14000_14046del - X54156.1(TP53):g.14000_14046del chr17 7517753 7517762 TP53_g.14570_14578del - X54156.1(TP53):g.14570_14578del chr17 7518971 7518972 TP53_g.13362T>A - X54156.1(TP53):g.13362T>A chr17 7520053 7520054 TP53_g.12282A>G - X54156.1(TP53):g.12282A>G chr17 7519127 7519128 TP53_g.13206G>C - X54156.1(TP53):g.13206G>C chr17 7514712 7514713 TP53_g.17617G>A - X54156.1(TP53):g.17617G>A chr17 7520251 7520253 TP53_g.12083_12084ins1 - X54156.1(TP53):g.12083_12084ins1 chr17 7520131 7520133 TP53_g.12203_12204ins7 - X54156.1(TP53):g.12203_12204ins7 chr17 7520084 7520090 TP53_g.12246_12251del - X54156.1(TP53):g.12246_12251del chr17 7520083 7520085 TP53_g.12251_12252ins11 - X54156.1(TP53):g.12251_12252ins11 chr17 7520053 7520054 TP53_g.12282A>C - X54156.1(TP53):g.12282A>C chr17 7519231 7519232 TP53_g.13102C>G - X54156.1(TP53):g.13102C>G chr17 7518269 7518291 TP53_g.14042_14063del - X54156.1(TP53):g.14042_14063del chr17 7518270 7518273 TP53_g.14060_14062del - X54156.1(TP53):g.14060_14062del chr17 7518252 7518261 TP53_g.14072_14080del - X54156.1(TP53):g.14072_14080del chr17 7517752 7517753 TP53_g.14579del - X54156.1(TP53):g.14579del chr17 7517843 7517845 TP53_g.14487_14488ins1 - X54156.1(TP53):g.14487_14488ins1 chr17 7518993 7518994 TP53_g.13340C>A - X54156.1(TP53):g.13340C>A chr17 7517586 7517604 TP53_g.14728_14745del - X54156.1(TP53):g.14728_14745del chr17 7520302 7520303 TP53_g.12033del - X54156.1(TP53):g.12033del chr17 7519195 7519196 TP53_g.13138C>A - X54156.1(TP53):g.13138C>A chr17 7520217 7520218 TP53_g.12118G>C - X54156.1(TP53):g.12118G>C chr17 7520089 7520091 TP53_g.12245_12246ins1 - X54156.1(TP53):g.12245_12246ins1 chr17 7519197 7519199 TP53_g.13135_13136ins2 - X54156.1(TP53):g.13135_13136ins2 chr17 7517632 7517633 TP53_g.14699G>T - X54156.1(TP53):g.14699G>T chr17 7517610 7517611 TP53_g.14721G>T - X54156.1(TP53):g.14721G>T chr17 7520245 7520246 TP53_g.12090G>A - X54156.1(TP53):g.12090G>A chr17 7520203 7520204 TP53_g.12132G>A - X54156.1(TP53):g.12132G>A chr17 7520037 7520315 TP53_g.12021_12298del - X54156.1(TP53):g.12021_12298del chr17 7517853 7517854 TP53_g.14478T>A - X54156.1(TP53):g.14478T>A chr17 7519126 7519135 TP53_g.13199_13207del - X54156.1(TP53):g.13199_13207del chr17 7518311 7518312 TP53_g.14021A>T - X54156.1(TP53):g.14021A>T chr17 7517823 7517824 TP53_g.14508G>T - X54156.1(TP53):g.14508G>T chr17 7518948 7518950 TP53_g.13384_13385ins1 - X54156.1(TP53):g.13384_13385ins1 chr17 7518254 7518256 TP53_g.14077_14078ins5 - X54156.1(TP53):g.14077_14078ins5 chr17 7520131 7520132 TP53_g.12204del - X54156.1(TP53):g.12204del chr17 7519187 7519188 TP53_g.13146G>A - X54156.1(TP53):g.13146G>A chr17 7518299 7518301 TP53_g.14032_14033ins4 - X54156.1(TP53):g.14032_14033ins4 chr17 7518254 7518256 TP53_g.14077_14078ins3 - X54156.1(TP53):g.14077_14078ins3 chr17 7520039 7520040 TP53_g.12296C>G - X54156.1(TP53):g.12296C>G chr17 7519204 7519205 TP53_g.13129A>G - X54156.1(TP53):g.13129A>G chr17 7518909 7518910 TP53_g.13424C>A - X54156.1(TP53):g.13424C>A chr17 7518968 7518969 TP53_g.13365G>C - X54156.1(TP53):g.13365G>C chr17 7518913 7518914 TP53_g.13420T>A - X54156.1(TP53):g.13420T>A chr17 7518912 7518913 TP53_g.13421del - X54156.1(TP53):g.13421del chr17 7518265 7518279 TP53_g.14054_14067delins1 - X54156.1(TP53):g.14054_14067delins1 chr17 7517787 7517789 TP53_g.14543_14544del - X54156.1(TP53):g.14543_14544del chr17 7517761 7517762 TP53_g.14570del - X54156.1(TP53):g.14570del chr17 7517583 7517589 TP53_g.14743_14748del - X54156.1(TP53):g.14743_14748del chr17 7519233 7519249 TP53_g.13085_13100del - X54156.1(TP53):g.13085_13100del chr17 7518958 7518959 TP53_g.13375T>G - X54156.1(TP53):g.13375T>G chr17 7517773 7517774 TP53_g.14558C>G - X54156.1(TP53):g.14558C>G chr17 7519226 7519227 TP53_g.13107T>C - X54156.1(TP53):g.13107T>C chr17 7514737 7514739 TP53_g.17591_17592ins18 - X54156.1(TP53):g.17591_17592ins18 chr17 7517796 7517801 TP53_g.14531_14535del - X54156.1(TP53):g.14531_14535del chr17 7517766 7517771 TP53_g.14561_14565del - X54156.1(TP53):g.14561_14565del chr17 7519257 7519258 TP53_g.13076A>G - X54156.1(TP53):g.13076A>G chr17 7519270 7519293 TP53_g.13041_13063del - X54156.1(TP53):g.13041_13063del chr17 7518368 7518369 TP53_g.13964del - X54156.1(TP53):g.13964del chr17 7518287 7518289 TP53_g.14044_14045ins1 - X54156.1(TP53):g.14044_14045ins1 chr17 7520293 7520295 TP53_g.12041_12042ins1 - X54156.1(TP53):g.12041_12042ins1 chr17 7517842 7517844 TP53_g.14488_14489ins1 - X54156.1(TP53):g.14488_14489ins1 chr17 7517811 7517813 TP53_g.14519_14520ins1 - X54156.1(TP53):g.14519_14520ins1 chr17 7520056 7520058 TP53_g.12278_12279ins1 - X54156.1(TP53):g.12278_12279ins1 chr17 7517618 7517620 TP53_g.14712_14713ins1 - X54156.1(TP53):g.14712_14713ins1 chr17 7518989 7519003 TP53_g.13331_13344del - X54156.1(TP53):g.13331_13344del chr17 7517590 7517591 TP53_g.14741A>C - X54156.1(TP53):g.14741A>C chr17 7519274 7519275 TP53_g.13059C>G - X54156.1(TP53):g.13059C>G chr17 7520081 7520087 TP53_g.12249_12254del - X54156.1(TP53):g.12249_12254del chr17 7518267 7518268 TP53_g.14065del - X54156.1(TP53):g.14065del chr17 7520087 7520090 TP53_g.12246_12248del - X54156.1(TP53):g.12246_12248del chr17 7520185 7520192 TP53_g.12144_12150del - X54156.1(TP53):g.12144_12150del chr17 7518343 7518344 TP53_g.13989T>C - X54156.1(TP53):g.13989T>C chr17 7518997 7519003 TP53_g.13331_13336del - X54156.1(TP53):g.13331_13336del chr17 7518317 7518319 TP53_g.14014_14015del - X54156.1(TP53):g.14014_14015del chr17 7518303 7518318 TP53_g.14015_14029del - X54156.1(TP53):g.14015_14029del chr17 7518287 7518288 TP53_g.14045del - X54156.1(TP53):g.14045del chr17 7518275 7518276 TP53_g.14057G>C - X54156.1(TP53):g.14057G>C chr17 7518241 7518242 TP53_g.14091T>A - X54156.1(TP53):g.14091T>A chr17 7517747 7517870 TP53_g.14462_14584del - X54156.1(TP53):g.14462_14584del chr17 7517833 7517835 TP53_g.14497_14498ins1 - X54156.1(TP53):g.14497_14498ins1 chr17 7517788 7517789 TP53_g.14543del - X54156.1(TP53):g.14543del chr17 7519266 7519268 TP53_g.13066_13067ins1 - X54156.1(TP53):g.13066_13067ins1 chr17 7518282 7518283 TP53_g.14050del - X54156.1(TP53):g.14050del chr17 7518914 7518916 TP53_g.13418_13419ins1 - X54156.1(TP53):g.13418_13419ins1 chr17 7518237 7518238 TP53_g.14095A>G - X54156.1(TP53):g.14095A>G chr17 7518265 7518267 TP53_g.14066_14067delinsTT - X54156.1(TP53):g.14066_14067delinsTT chr17 7518261 7518266 TP53_g.14067_14071delinsTTCCC - X54156.1(TP53):g.14067_14071delinsTTCCC chr17 7518964 7518966 TP53_g.13368_13369ins1 - X54156.1(TP53):g.13368_13369ins1 chr17 7519215 7519216 TP53_g.13118del - X54156.1(TP53):g.13118del chr17 7520116 7520117 TP53_g.12219del - X54156.1(TP53):g.12219del chr17 7520038 7520040 TP53_g.12296_12297ins1 - X54156.1(TP53):g.12296_12297ins1 chr17 7518991 7518992 TP53_g.13342T>G - X54156.1(TP53):g.13342T>G chr17 7520062 7520064 TP53_g.12272_12273ins1 - X54156.1(TP53):g.12272_12273ins1 chr17 7517861 7517862 TP53_g.14470G>A - X54156.1(TP53):g.14470G>A chr17 7520083 7520084 TP53_g.12252C>T - X54156.1(TP53):g.12252C>T chr17 7520185 7520186 TP53_g.12150G>A - X54156.1(TP53):g.12150G>A chr17 7519121 7519122 TP53_g.13212A>G - X54156.1(TP53):g.13212A>G chr17 7520078 7520079 TP53_g.12257G>A - X54156.1(TP53):g.12257G>A chr17 7518867 7518868 TP53_g.13466G>A - X54156.1(TP53):g.13466G>A chr17 7518218 7518219 TP53_g.14114G>A - X54156.1(TP53):g.14114G>A chr17 7517577 7519279 TP53_g.13055_14754del - X54156.1(TP53):g.13055_14754del chr17 7518930 7518931 TP53_g.13403A>T - X54156.1(TP53):g.13403A>T chr17 7518922 7518925 TP53_g.13409_13411del - X54156.1(TP53):g.13409_13411del chr17 7519224 7519225 TP53_g.13109del - X54156.1(TP53):g.13109del chr17 7519213 7519214 TP53_g.13120del - X54156.1(TP53):g.13120del chr17 7517597 7517598 TP53_g.14734G>T - X54156.1(TP53):g.14734G>T chr17 7518239 7518241 TP53_g.14092_14093ins2 - X54156.1(TP53):g.14092_14093ins2 chr17 7519159 7519160 TP53_g.13174G>A - X54156.1(TP53):g.13174G>A chr17 7519158 7519160 TP53_g.13174_13175ins1 - X54156.1(TP53):g.13174_13175ins1 chr17 7517869 7517870 TP53_g.14462del - X54156.1(TP53):g.14462del chr17 7518226 7518227 TP53_g.14106C>A - X54156.1(TP53):g.14106C>A chr17 7518302 7518304 TP53_g.14029_14030ins1 - X54156.1(TP53):g.14029_14030ins1 chr17 7517758 7517759 TP53_g.14573del - X54156.1(TP53):g.14573del chr17 7519102 7519103 TP53_g.13231T>C - X54156.1(TP53):g.13231T>C chr17 7519146 7519147 TP53_g.13187A>C - X54156.1(TP53):g.13187A>C chr17 7519194 7519195 TP53_g.13139G>A - X54156.1(TP53):g.13139G>A chr17 7518296 7518297 TP53_g.14036A>T - X54156.1(TP53):g.14036A>T chr17 7519246 7519273 TP53_g.13061_13087del - X54156.1(TP53):g.13061_13087del chr17 7518243 7518244 TP53_g.14089C>G - X54156.1(TP53):g.14089C>G chr17 7519003 7519005 TP53_g.13329_13330ins1 - X54156.1(TP53):g.13329_13330ins1 chr17 7520110 7520111 TP53_g.12225A>T - X54156.1(TP53):g.12225A>T chr17 7518931 7518932 TP53_g.13402T>G - X54156.1(TP53):g.13402T>G chr17 7517856 7517857 TP53_g.14475G>C - X54156.1(TP53):g.14475G>C chr17 7519261 7519262 TP53_g.13072C>T - X54156.1(TP53):g.13072C>T chr17 7518947 7518948 TP53_g.13386G>C - X54156.1(TP53):g.13386G>C chr17 7519257 7519259 TP53_g.13075_13076delinsCT - X54156.1(TP53):g.13075_13076delinsCT chr17 7517645 7517646 TP53_g.14686C>T - X54156.1(TP53):g.14686C>T chr17 7519154 7519156 TP53_g.13178_13179del - X54156.1(TP53):g.13178_13179del chr17 7519214 7519215 TP53_g.13119T>C - X54156.1(TP53):g.13119T>C chr17 7519002 7519003 TP53_g.13331C>A - X54156.1(TP53):g.13331C>A chr17 7518271 7518273 TP53_g.14060_14061delinsCA - X54156.1(TP53):g.14060_14061delinsCA chr17 7519278 7519280 TP53_g.13054_13055ins3 - X54156.1(TP53):g.13054_13055ins3 chr17 7520077 7520104 TP53_g.12232_12258del - X54156.1(TP53):g.12232_12258del chr17 7519108 7519135 TP53_g.13199_13225del - X54156.1(TP53):g.13199_13225del chr17 7519226 7519227 TP53_g.13107T>A - X54156.1(TP53):g.13107T>A chr17 7518236 7518237 TP53_g.14096del - X54156.1(TP53):g.14096del chr17 7517824 7517825 TP53_g.14507del - X54156.1(TP53):g.14507del chr17 7519117 7519126 TP53_g.13208_13216del - X54156.1(TP53):g.13208_13216del chr17 7517854 7517855 TP53_g.14477T>A - X54156.1(TP53):g.14477T>A chr17 7519000 7519001 TP53_g.13333T>C - X54156.1(TP53):g.13333T>C chr17 7519147 7519148 TP53_g.13186G>T - X54156.1(TP53):g.13186G>T chr17 7517865 7517866 TP53_g.14466G>C - X54156.1(TP53):g.14466G>C chr17 7519242 7519244 TP53_g.13090_13091ins1 - X54156.1(TP53):g.13090_13091ins1 chr17 7519150 7519151 TP53_g.13183C>A - X54156.1(TP53):g.13183C>A chr17 7519011 7519013 TP53_g.13321_13322ins1 - X54156.1(TP53):g.13321_13322ins1 chr17 7518255 7518270 TP53_g.14063_14077del - X54156.1(TP53):g.14063_14077del chr17 7518998 7519000 TP53_g.13334_13335del - X54156.1(TP53):g.13334_13335del chr17 7518241 7518243 TP53_g.14090_14091del - X54156.1(TP53):g.14090_14091del chr17 7519240 7519241 TP53_g.13093C>A - X54156.1(TP53):g.13093C>A chr17 7518923 7518924 TP53_g.13410T>G - X54156.1(TP53):g.13410T>G chr17 7517788 7517790 TP53_g.14542_14543del - X54156.1(TP53):g.14542_14543del chr17 7518265 7518273 TP53_g.14060_14067del - X54156.1(TP53):g.14060_14067del chr17 7518942 7518944 TP53_g.13390_13391del - X54156.1(TP53):g.13390_13391del chr17 7518256 7518257 TP53_g.14076del - X54156.1(TP53):g.14076del chr17 7519019 7519031 TP53_g.13303_13314del - X54156.1(TP53):g.13303_13314del chr17 7519197 7519198 TP53_g.13136C>G - X54156.1(TP53):g.13136C>G chr17 7518966 7518967 TP53_g.13367G>T - X54156.1(TP53):g.13367G>T chr17 7518972 7518991 TP53_g.13343_13361del - X54156.1(TP53):g.13343_13361del chr17 7517772 7517773 TP53_g.14559A>G - X54156.1(TP53):g.14559A>G chr17 7518243 7518244 TP53_g.14089del - X54156.1(TP53):g.14089del chr17 7519132 7519133 TP53_g.13201G>T - X54156.1(TP53):g.13201G>T chr17 7519198 7519199 TP53_g.13135del - X54156.1(TP53):g.13135del chr17 7517824 7517825 TP53_g.14507A>T - X54156.1(TP53):g.14507A>T chr17 7520441 7520442 TP53_g.11910del - X54156.1(TP53):g.11910del chr17 7518293 7518295 TP53_g.14038_14039ins1 - X54156.1(TP53):g.14038_14039ins1 chr17 7519186 7519187 TP53_g.13147del - X54156.1(TP53):g.13147del chr17 7519254 7519255 TP53_g.13079T>G - X54156.1(TP53):g.13079T>G chr17 7520260 7520261 TP53_g.12075G>T - X54156.1(TP53):g.12075G>T chr17 7517845 7517847 TP53_g.14485_14486ins7 - X54156.1(TP53):g.14485_14486ins7 chr17 7517802 7517804 TP53_g.14528_14529del - X54156.1(TP53):g.14528_14529del chr17 7520078 7520105 TP53_g.12231_12257del - X54156.1(TP53):g.12231_12257del chr17 7518296 7518297 TP53_g.14036A>C - X54156.1(TP53):g.14036A>C chr17 7514723 7514724 TP53_g.17606A>G - X54156.1(TP53):g.17606A>G chr17 7520076 7520077 TP53_g.12259G>A - X54156.1(TP53):g.12259G>A chr17 7519205 7519206 TP53_g.13128C>G - X54156.1(TP53):g.13128C>G chr17 7518999 7519002 TP53_g.13332_13334del - X54156.1(TP53):g.13332_13334del chr17 7517717 7517718 TP53_g.14614delinsAT - X54156.1(TP53):g.14614delinsAT chr17 7518329 7518330 TP53_g.14003G>A - X54156.1(TP53):g.14003G>A chr17 7518319 7518320 TP53_g.14013G>C - X54156.1(TP53):g.14013G>C chr17 7519199 7519200 TP53_g.13134C>A - X54156.1(TP53):g.13134C>A chr17 7518238 7518239 TP53_g.14094C>T - X54156.1(TP53):g.14094C>T chr17 7514676 7514677 TP53_g.17653del - X54156.1(TP53):g.17653del chr17 7518921 7518922 TP53_g.13412G>T - X54156.1(TP53):g.13412G>T chr17 7517750 7517751 TP53_g.14581T>G - X54156.1(TP53):g.14581T>G chr17 7519110 7519111 TP53_g.13223T>A - X54156.1(TP53):g.13223T>A chr17 7519095 7519096 TP53_g.13238G>A - X54156.1(TP53):g.13238G>A chr17 7519263 7519264 TP53_g.13070A>T - X54156.1(TP53):g.13070A>T chr17 7519008 7519009 TP53_g.13325G>A - X54156.1(TP53):g.13325G>A chr17 7518308 7518310 TP53_g.14023_14024ins1 - X54156.1(TP53):g.14023_14024ins1 chr17 7519092 7519093 TP53_g.13241G>C - X54156.1(TP53):g.13241G>C chr17 7513716 7513717 TP53_g.18615del - X54156.1(TP53):g.18615del chr17 7518238 7518239 TP53_g.14094C>A - X54156.1(TP53):g.14094C>A chr17 7518246 7518258 TP53_g.14075_14086del - X54156.1(TP53):g.14075_14086del chr17 7518974 7518975 TP53_g.13359A>G - X54156.1(TP53):g.13359A>G chr17 7519126 7519129 TP53_g.13205_13207del - X54156.1(TP53):g.13205_13207del chr17 7518232 7518234 TP53_g.14099_14100ins3 - X54156.1(TP53):g.14099_14100ins3 chr17 7517594 7517595 TP53_g.14737G>T - X54156.1(TP53):g.14737G>T chr17 7517875 7517877 TP53_g.14455_14456delinsAC - X54156.1(TP53):g.14455_14456delinsAC chr17 7518910 7518911 TP53_g.13423G>C - X54156.1(TP53):g.13423G>C chr17 7517874 7517875 TP53_g.14457A>T - X54156.1(TP53):g.14457A>T chr17 7518907 7518908 TP53_g.13426G>C - X54156.1(TP53):g.13426G>C chr17 7519251 7519252 TP53_g.13082del - X54156.1(TP53):g.13082del chr17 7520093 7520094 TP53_g.12242C>G - X54156.1(TP53):g.12242C>G chr17 7518231 7518232 TP53_g.14101A>T - X54156.1(TP53):g.14101A>T chr17 7519268 7519269 TP53_g.13065C>G - X54156.1(TP53):g.13065C>G chr17 7518963 7518964 TP53_g.13370del - X54156.1(TP53):g.13370del chr17 7518302 7518303 TP53_g.14030del - X54156.1(TP53):g.14030del chr17 7517851 7517853 TP53_g.14479_14480delinsGT - X54156.1(TP53):g.14479_14480delinsGT chr17 7518279 7518280 TP53_g.14053C>T - X54156.1(TP53):g.14053C>T chr17 7519199 7519200 TP53_g.13134del - X54156.1(TP53):g.13134del chr17 7518997 7518998 TP53_g.13336G>T - X54156.1(TP53):g.13336G>T chr17 7518994 7518995 TP53_g.13339T>C - X54156.1(TP53):g.13339T>C chr17 7519208 7519210 TP53_g.13124_13125ins1 - X54156.1(TP53):g.13124_13125ins1 chr17 7518993 7518994 TP53_g.13340del - X54156.1(TP53):g.13340del chr17 7518294 7518296 TP53_g.14037_14038del - X54156.1(TP53):g.14037_14038del chr17 7519226 7519227 TP53_g.13107T>G - X54156.1(TP53):g.13107T>G chr17 7519215 7519216 TP53_g.13118G>A - X54156.1(TP53):g.13118G>A chr17 7520145 7520153 TP53_g.12183_12190del - X54156.1(TP53):g.12183_12190del chr17 7518987 7518988 TP53_g.13346C>A - X54156.1(TP53):g.13346C>A chr17 7519121 7519123 TP53_g.13211_13212ins2 - X54156.1(TP53):g.13211_13212ins2 chr17 7518334 7518335 TP53_g.13998A>C - X54156.1(TP53):g.13998A>C chr17 7517868 7517869 TP53_g.14463T>A - X54156.1(TP53):g.14463T>A chr17 7519093 7519094 TP53_g.13240T>C - X54156.1(TP53):g.13240T>C chr17 7519236 7519273 TP53_g.13061_13097del - X54156.1(TP53):g.13061_13097del chr17 7519181 7519183 TP53_g.13151_13152del - X54156.1(TP53):g.13151_13152del chr17 7518294 7518297 TP53_g.14036_14038del - X54156.1(TP53):g.14036_14038del chr17 7519008 7519009 TP53_g.13325del - X54156.1(TP53):g.13325del chr17 7517843 7517845 TP53_g.14487_14488delinsAG - X54156.1(TP53):g.14487_14488delinsAG chr17 7517873 7517874 TP53_g.14458del - X54156.1(TP53):g.14458del chr17 7519132 7519133 TP53_g.13201del - X54156.1(TP53):g.13201del chr17 7518930 7518931 TP53_g.13403del - X54156.1(TP53):g.13403del chr17 7517846 7517847 TP53_g.14485G>C - X54156.1(TP53):g.14485G>C chr17 7518988 7518989 TP53_g.13345del - X54156.1(TP53):g.13345del chr17 7518258 7518259 TP53_g.14074del - X54156.1(TP53):g.14074del chr17 7518229 7518231 TP53_g.14102_14103ins1 - X54156.1(TP53):g.14102_14103ins1 chr17 7518253 7518254 TP53_g.14079del - X54156.1(TP53):g.14079del chr17 7518227 7518228 TP53_g.14105T>G - X54156.1(TP53):g.14105T>G chr17 7517815 7517816 TP53_g.14516C>G - X54156.1(TP53):g.14516C>G chr17 7519192 7519193 TP53_g.13141C>G - X54156.1(TP53):g.13141C>G chr17 7519244 7519245 TP53_g.13089T>A - X54156.1(TP53):g.13089T>A chr17 7517797 7517798 TP53_g.14534C>T - X54156.1(TP53):g.14534C>T chr17 7517765 7517766 TP53_g.14566G>T - X54156.1(TP53):g.14566G>T chr17 7517813 7517814 TP53_g.14518C>T - X54156.1(TP53):g.14518C>T chr17 7519124 7519126 TP53_g.13208_13209delinsTT - X54156.1(TP53):g.13208_13209delinsTT chr17 7519225 7519234 TP53_g.13100_13108del - X54156.1(TP53):g.13100_13108del chr17 7520615 7520616 TP53_g.11738C>T - X54156.1(TP53):g.11738C>T chr17 7520606 7520607 TP53_g.11747G>A - X54156.1(TP53):g.11747G>A chr17 7520594 7520595 TP53_g.11759A>C - X54156.1(TP53):g.11759A>C chr17 7520229 7520230 TP53_g.12106A>G - X54156.1(TP53):g.12106A>G chr17 7520253 7520254 TP53_g.12082G>A - X54156.1(TP53):g.12082G>A chr17 7520196 7520197 TP53_g.12139G>T - X54156.1(TP53):g.12139G>T chr17 7520325 7520326 TP53_g.12010C>T - X54156.1(TP53):g.12010C>T chr17 7520107 7520109 TP53_g.12227_12228ins1 - X54156.1(TP53):g.12227_12228ins1 chr17 7520099 7520100 TP53_g.12236G>T - X54156.1(TP53):g.12236G>T chr17 7513680 7513681 TP53_g.18651T>C - X54156.1(TP53):g.18651T>C chr17 7520095 7520096 TP53_g.12240A>G - X54156.1(TP53):g.12240A>G chr17 7520054 7520055 TP53_g.12281C>T - X54156.1(TP53):g.12281C>T chr17 7514650 7514651 TP53_g.17679G>A - X54156.1(TP53):g.17679G>A chr17 7520560 7520561 TP53_g.11793G>A - X54156.1(TP53):g.11793G>A chr17 7518969 7518970 TP53_g.13364C>T - X54156.1(TP53):g.13364C>T chr17 7518336 7518337 TP53_g.13996C>T - X54156.1(TP53):g.13996C>T chr17 7514713 7514714 TP53_g.17616G>A - X54156.1(TP53):g.17616G>A chr17 7514663 7514664 TP53_g.17666G>A - X54156.1(TP53):g.17666G>A chr17 7514764 7514765 TP53_g.17565G>A - X54156.1(TP53):g.17565G>A chr17 7514668 7514669 TP53_g.17661G>A - X54156.1(TP53):g.17661G>A chr17 7517764 7517765 TP53_g.14567del - X54156.1(TP53):g.14567del chr17 7520066 7520067 TP53_g.12269T>C - X54156.1(TP53):g.12269T>C chr17 7514658 7514659 TP53_g.17671C>T - X54156.1(TP53):g.17671C>T chr17 7520607 7520608 TP53_g.11746C>T - X54156.1(TP53):g.11746C>T chr17 7514660 7514661 TP53_g.17669C>T - X54156.1(TP53):g.17669C>T chr17 7518911 7518912 TP53_g.13422A>G - X54156.1(TP53):g.13422A>G chr17 7519109 7519110 TP53_g.13224G>A - X54156.1(TP53):g.13224G>A chr17 7519106 7519107 TP53_g.13227C>A - X54156.1(TP53):g.13227C>A chr17 7518256 7518257 TP53_g.14076C>A - X54156.1(TP53):g.14076C>A chr17 7517869 7517871 TP53_g.14461_14462ins2 - X54156.1(TP53):g.14461_14462ins2 chr17 7517811 7517812 TP53_g.14520C>T - X54156.1(TP53):g.14520C>T chr17 7517766 7517767 TP53_g.14565T>G - X54156.1(TP53):g.14565T>G chr17 7519012 7519013 TP53_g.13321T>C - X54156.1(TP53):g.13321T>C chr17 7517778 7517780 TP53_g.14552_14553ins2 - X54156.1(TP53):g.14552_14553ins2 chr17 7518307 7518309 TP53_g.14024_14025ins1 - X54156.1(TP53):g.14024_14025ins1 chr17 7519227 7519228 TP53_g.13106G>T - X54156.1(TP53):g.13106G>T chr17 7513734 7513735 TP53_g.18597A>C - X54156.1(TP53):g.18597A>C chr17 7517606 7517608 TP53_g.14724_14725ins2 - X54156.1(TP53):g.14724_14725ins2 chr17 7519124 7519125 TP53_g.13209C>A - X54156.1(TP53):g.13209C>A chr17 7518941 7518942 TP53_g.13392C>G - X54156.1(TP53):g.13392C>G chr17 7517774 7517775 TP53_g.14557C>G - X54156.1(TP53):g.14557C>G chr17 7518263 7518264 TP53_g.14069C>G - X54156.1(TP53):g.14069C>G chr17 7519115 7519142 TP53_g.13192_13218del - X54156.1(TP53):g.13192_13218del chr17 7520232 7520233 TP53_g.12103C>T - X54156.1(TP53):g.12103C>T chr17 7518989 7518990 TP53_g.13344T>A - X54156.1(TP53):g.13344T>A chr17 7518234 7518236 TP53_g.14097_14098del - X54156.1(TP53):g.14097_14098del chr17 7517621 7517622 TP53_g.14710del - X54156.1(TP53):g.14710del chr17 7518963 7518964 TP53_g.13370G>A - X54156.1(TP53):g.13370G>A chr17 7518970 7518971 TP53_g.13363G>C - X54156.1(TP53):g.13363G>C chr17 7517871 7517872 TP53_g.14460T>G - X54156.1(TP53):g.14460T>G chr17 7518286 7518288 TP53_g.14045_14046ins1 - X54156.1(TP53):g.14045_14046ins1 chr17 7518927 7518929 TP53_g.13405_13406ins3 - X54156.1(TP53):g.13405_13406ins3 chr17 7519117 7519144 TP53_g.13190_13216del - X54156.1(TP53):g.13190_13216del chr17 7518985 7518986 TP53_g.13348A>C - X54156.1(TP53):g.13348A>C chr17 7519263 7519264 TP53_g.13070A>C - X54156.1(TP53):g.13070A>C chr17 7517812 7517813 TP53_g.14519A>G - X54156.1(TP53):g.14519A>G chr17 7519090 7519091 TP53_g.13243G>C - X54156.1(TP53):g.13243G>C chr17 7518318 7518319 TP53_g.14014del - X54156.1(TP53):g.14014del chr17 7520045 7520047 TP53_g.12289_12290del - X54156.1(TP53):g.12289_12290del chr17 7518246 7518252 TP53_g.14081_14086del - X54156.1(TP53):g.14081_14086del chr17 7519177 7519186 TP53_g.13148_13156del - X54156.1(TP53):g.13148_13156del chr17 7517799 7517804 TP53_g.14528_14532del - X54156.1(TP53):g.14528_14532del chr17 7517714 7517715 TP53_g.14617G>A - X54156.1(TP53):g.14617G>A chr17 7517882 7517883 TP53_g.14449T>C - X54156.1(TP53):g.14449T>C chr17 7517757 7517758 TP53_g.14574G>T - X54156.1(TP53):g.14574G>T chr17 7518245 7518247 TP53_g.14086_14087ins1 - X54156.1(TP53):g.14086_14087ins1 chr17 7519197 7519199 TP53_g.13135_13136ins9 - X54156.1(TP53):g.13135_13136ins9 chr17 7518281 7518283 TP53_g.14050_14051ins4 - X54156.1(TP53):g.14050_14051ins4 chr17 7519137 7519138 TP53_g.13196del - X54156.1(TP53):g.13196del chr17 7519098 7519099 TP53_g.13235del - X54156.1(TP53):g.13235del chr17 7518958 7518959 TP53_g.13375T>A - X54156.1(TP53):g.13375T>A chr17 7518991 7518992 TP53_g.13342T>C - X54156.1(TP53):g.13342T>C chr17 7519230 7519232 TP53_g.13102_13103ins6 - X54156.1(TP53):g.13102_13103ins6 chr17 7519156 7519158 TP53_g.13176_13177ins1 - X54156.1(TP53):g.13176_13177ins1 chr17 7519169 7519171 TP53_g.13163_13164ins1 - X54156.1(TP53):g.13163_13164ins1 chr17 7518284 7518286 TP53_g.14047_14048del - X54156.1(TP53):g.14047_14048del chr17 7517858 7517867 TP53_g.14465_14473del - X54156.1(TP53):g.14465_14473del chr17 7518926 7518927 TP53_g.13407del - X54156.1(TP53):g.13407del chr17 7519071 7519072 TP53_g.13262C>T - X54156.1(TP53):g.13262C>T chr17 7519114 7519115 TP53_g.13219G>C - X54156.1(TP53):g.13219G>C chr17 7518242 7518244 TP53_g.14089_14090ins1 - X54156.1(TP53):g.14089_14090ins1 chr17 7517784 7517795 TP53_g.14537_14547del - X54156.1(TP53):g.14537_14547del chr17 7517815 7517817 TP53_g.14515_14516ins2 - X54156.1(TP53):g.14515_14516ins2 chr17 7517811 7517813 TP53_g.14519_14520del - X54156.1(TP53):g.14519_14520del chr17 7517849 7517852 TP53_g.14480_14482del - X54156.1(TP53):g.14480_14482del chr17 7518924 7518925 TP53_g.13409del - X54156.1(TP53):g.13409del chr17 7518251 7518252 TP53_g.14081del - X54156.1(TP53):g.14081del chr17 7517770 7517772 TP53_g.14560_14561ins1 - X54156.1(TP53):g.14560_14561ins1 chr17 7517783 7517784 TP53_g.14548G>A - X54156.1(TP53):g.14548G>A chr17 7517648 7517650 TP53_g.14682_14683ins1 - X54156.1(TP53):g.14682_14683ins1 chr17 7519246 7519247 TP53_g.13087A>C - X54156.1(TP53):g.13087A>C chr17 7518227 7518229 TP53_g.14104_14105ins1 - X54156.1(TP53):g.14104_14105ins1 chr17 7518975 7518977 TP53_g.13357_13358ins1 - X54156.1(TP53):g.13357_13358ins1 chr17 7519212 7519213 TP53_g.13121G>T - X54156.1(TP53):g.13121G>T chr17 7519127 7519129 TP53_g.13205_13206ins1 - X54156.1(TP53):g.13205_13206ins1 chr17 7518272 7518274 TP53_g.14059_14060ins1 - X54156.1(TP53):g.14059_14060ins1 chr17 7518911 7518912 TP53_g.13422A>C - X54156.1(TP53):g.13422A>C chr17 7519008 7519009 TP53_g.13325G>C - X54156.1(TP53):g.13325G>C chr17 7518994 7518996 TP53_g.13338_13339ins1 - X54156.1(TP53):g.13338_13339ins1 chr17 7518923 7518924 TP53_g.13410T>A - X54156.1(TP53):g.13410T>A chr17 7518989 7518991 TP53_g.13343_13344ins1 - X54156.1(TP53):g.13343_13344ins1 chr17 7519122 7519123 TP53_g.13211C>T - X54156.1(TP53):g.13211C>T chr17 7517615 7517616 TP53_g.14716A>G - X54156.1(TP53):g.14716A>G chr17 7518247 7518249 TP53_g.14084_14085ins1 - X54156.1(TP53):g.14084_14085ins1 chr17 7519027 7519028 TP53_g.13306del - X54156.1(TP53):g.13306del chr17 7519237 7519239 TP53_g.13095_13096ins1 - X54156.1(TP53):g.13095_13096ins1 chr17 7520131 7520132 TP53_g.12204T>A - X54156.1(TP53):g.12204T>A chr17 7517792 7517793 TP53_g.14539del - X54156.1(TP53):g.14539del chr17 7519253 7519254 TP53_g.13080T>C - X54156.1(TP53):g.13080T>C chr17 7518927 7518928 TP53_g.13406del - X54156.1(TP53):g.13406del chr17 7520193 7520194 TP53_g.12142del - X54156.1(TP53):g.12142del chr17 7519194 7519207 TP53_g.13127_13139del - X54156.1(TP53):g.13127_13139del chr17 7517812 7517814 TP53_g.14518_14519ins1 - X54156.1(TP53):g.14518_14519ins1 chr17 7518252 7518255 TP53_g.14078_14080del - X54156.1(TP53):g.14078_14080del chr17 7518251 7518253 TP53_g.14080_14081ins3 - X54156.1(TP53):g.14080_14081ins3 chr17 7518294 7518296 TP53_g.14037_14038delinsCC - X54156.1(TP53):g.14037_14038delinsCC chr17 7519003 7519004 TP53_g.13330T>C - X54156.1(TP53):g.13330T>C chr17 7518996 7518998 TP53_g.13336_13337delinsTT - X54156.1(TP53):g.13336_13337delinsTT chr17 7519213 7519215 TP53_g.13119_13120delinsAA - X54156.1(TP53):g.13119_13120delinsAA chr17 7519210 7519213 TP53_g.13121_13123delinsTAG - X54156.1(TP53):g.13121_13123delinsTAG chr17 7519161 7519162 TP53_g.13172C>G - X54156.1(TP53):g.13172C>G chr17 7518921 7518922 TP53_g.13412G>C - X54156.1(TP53):g.13412G>C chr17 7518318 7518319 TP53_g.14014T>C - X54156.1(TP53):g.14014T>C chr17 7518295 7518296 TP53_g.14037T>G - X54156.1(TP53):g.14037T>G chr17 7518262 7518264 TP53_g.14069_14070delinsTT - X54156.1(TP53):g.14069_14070delinsTT chr17 7517829 7517830 TP53_g.14502del - X54156.1(TP53):g.14502del chr17 7517805 7517807 TP53_g.14525_14526del - X54156.1(TP53):g.14525_14526del chr17 7518247 7518248 TP53_g.14085C>A - X54156.1(TP53):g.14085C>A chr17 7517816 7517818 TP53_g.14514_14515delinsTC - X54156.1(TP53):g.14514_14515delinsTC chr17 7517798 7517799 TP53_g.14533T>C - X54156.1(TP53):g.14533T>C chr17 7517795 7517796 TP53_g.14536C>A - X54156.1(TP53):g.14536C>A chr17 7517783 7517785 TP53_g.14547_14548delinsCC - X54156.1(TP53):g.14547_14548delinsCC chr17 7517820 7517821 TP53_g.14511del - X54156.1(TP53):g.14511del chr17 7518228 7518230 TP53_g.14103_14104delinsGT - X54156.1(TP53):g.14103_14104delinsGT chr17 7519115 7519116 TP53_g.13218A>T - X54156.1(TP53):g.13218A>T chr17 7518322 7518324 TP53_g.14009_14010delinsCC - X54156.1(TP53):g.14009_14010delinsCC chr17 7517797 7517799 TP53_g.14533_14534delinsCT - X54156.1(TP53):g.14533_14534delinsCT chr17 7519003 7519004 TP53_g.13330T>G - X54156.1(TP53):g.13330T>G chr17 7518251 7518252 TP53_g.14081C>G - X54156.1(TP53):g.14081C>G chr17 7517805 7517807 TP53_g.14525_14526delinsTT - X54156.1(TP53):g.14525_14526delinsTT chr17 7519202 7519204 TP53_g.13130_13131del - X54156.1(TP53):g.13130_13131del chr17 7518325 7518326 TP53_g.14007C>G - X54156.1(TP53):g.14007C>G chr17 7518294 7518295 TP53_g.14038del - X54156.1(TP53):g.14038del chr17 7519201 7519202 TP53_g.13132C>G - X54156.1(TP53):g.13132C>G chr17 7518258 7518260 TP53_g.14073_14074delinsCC - X54156.1(TP53):g.14073_14074delinsCC chr17 7519216 7519217 TP53_g.13117del - X54156.1(TP53):g.13117del chr17 7519178 7519179 TP53_g.13155C>G - X54156.1(TP53):g.13155C>G chr17 7518997 7518999 TP53_g.13335_13336delinsCC - X54156.1(TP53):g.13335_13336delinsCC chr17 7518949 7518950 TP53_g.13384C>T - X54156.1(TP53):g.13384C>T chr17 7517756 7517757 TP53_g.14575G>T - X54156.1(TP53):g.14575G>T chr17 7518257 7518259 TP53_g.14074_14075delinsTT - X54156.1(TP53):g.14074_14075delinsTT chr17 7517872 7517873 TP53_g.14459del - X54156.1(TP53):g.14459del chr17 7520167 7520169 TP53_g.12167_12168ins1 - X54156.1(TP53):g.12167_12168ins1 chr17 7517581 7517582 TP53_g.14750T>C - X54156.1(TP53):g.14750T>C chr17 7517587 7517588 TP53_g.14744T>C - X54156.1(TP53):g.14744T>C chr17 7517858 7517859 TP53_g.14473del - X54156.1(TP53):g.14473del chr17 7518991 7518994 TP53_g.13340_13342del - X54156.1(TP53):g.13340_13342del chr17 7517793 7517795 TP53_g.14537_14538ins1 - X54156.1(TP53):g.14537_14538ins1 chr17 7519156 7519158 TP53_g.13176_13177ins10 - X54156.1(TP53):g.13176_13177ins10 chr17 7518220 7518221 TP53_g.14112C>T - X54156.1(TP53):g.14112C>T chr17 7518296 7518302 TP53_g.14031_14036del - X54156.1(TP53):g.14031_14036del chr17 7518239 7518240 TP53_g.14093A>C - X54156.1(TP53):g.14093A>C chr17 7518258 7518261 TP53_g.14072_14074del - X54156.1(TP53):g.14072_14074del chr17 7518237 7518238 TP53_g.14095del - X54156.1(TP53):g.14095del chr17 7517636 7517637 TP53_g.14695A>T - X54156.1(TP53):g.14695A>T chr17 7517780 7517781 TP53_g.14551G>T - X54156.1(TP53):g.14551G>T chr17 7517817 7517819 TP53_g.14513_14514ins1 - X54156.1(TP53):g.14513_14514ins1 chr17 7517846 7517847 TP53_g.14485G>T - X54156.1(TP53):g.14485G>T chr17 7519099 7519100 TP53_g.13234C>T - X54156.1(TP53):g.13234C>T chr17 7520583 7520584 TP53_g.11770A>T - X54156.1(TP53):g.11770A>T chr17 7520424 7520446 TP53_g.11906_11927del - X54156.1(TP53):g.11906_11927del chr17 7518977 7518978 TP53_g.13356del - X54156.1(TP53):g.13356del chr17 7517873 7517874 TP53_g.14458T>G - X54156.1(TP53):g.14458T>G chr17 7519146 7519147 TP53_g.13187A>T - X54156.1(TP53):g.13187A>T chr17 7518324 7518325 TP53_g.14008T>G - X54156.1(TP53):g.14008T>G chr17 7519185 7519187 TP53_g.13147_13148ins6 - X54156.1(TP53):g.13147_13148ins6 chr17 7518936 7518952 TP53_g.13382_13397del - X54156.1(TP53):g.13382_13397del chr17 7518927 7518928 TP53_g.13406G>C - X54156.1(TP53):g.13406G>C chr17 7519194 7519195 TP53_g.13139del - X54156.1(TP53):g.13139del chr17 7513653 7513655 TP53_g.18677_18678ins20 - X54156.1(TP53):g.18677_18678ins20 chr17 7518965 7518966 TP53_g.13368T>A - X54156.1(TP53):g.13368T>A chr17 7518930 7518937 TP53_g.13397_13403del - X54156.1(TP53):g.13397_13403del chr17 7518281 7518282 TP53_g.14051T>C - X54156.1(TP53):g.14051T>C chr17 7517833 7517834 TP53_g.14498T>G - X54156.1(TP53):g.14498T>G chr17 7519274 7519275 TP53_g.13059del - X54156.1(TP53):g.13059del chr17 7519260 7519268 TP53_g.13066_13073del - X54156.1(TP53):g.13066_13073del chr17 7518978 7518979 TP53_g.13355del - X54156.1(TP53):g.13355del chr17 7518973 7518974 TP53_g.13360del - X54156.1(TP53):g.13360del chr17 7518929 7518949 TP53_g.13385_13404del - X54156.1(TP53):g.13385_13404del chr17 7518927 7518929 TP53_g.13405_13406ins5 - X54156.1(TP53):g.13405_13406ins5 chr17 7518286 7518288 TP53_g.14045_14046del - X54156.1(TP53):g.14045_14046del chr17 7517837 7517839 TP53_g.14493_14494del - X54156.1(TP53):g.14493_14494del chr17 7518291 7518312 TP53_g.14021_14041del - X54156.1(TP53):g.14021_14041del chr17 7518291 7518297 TP53_g.14036_14041del - X54156.1(TP53):g.14036_14041del chr17 7517651 7517652 TP53_g.14680G>A - X54156.1(TP53):g.14680G>A chr17 7518992 7518993 TP53_g.13341T>A - X54156.1(TP53):g.13341T>A chr17 7518962 7518963 TP53_g.13371A>C - X54156.1(TP53):g.13371A>C chr17 7519004 7519005 TP53_g.13329C>G - X54156.1(TP53):g.13329C>G chr17 7519206 7519208 TP53_g.13126_13127ins8 - X54156.1(TP53):g.13126_13127ins8 chr17 7519197 7519199 TP53_g.13135_13136ins8 - X54156.1(TP53):g.13135_13136ins8 chr17 7519197 7519199 TP53_g.13135_13136ins1 - X54156.1(TP53):g.13135_13136ins1 chr17 7519170 7519183 TP53_g.13151_13163del - X54156.1(TP53):g.13151_13163del chr17 7519138 7519144 TP53_g.13190_13195del - X54156.1(TP53):g.13190_13195del chr17 7518332 7518334 TP53_g.13999_14000ins6 - X54156.1(TP53):g.13999_14000ins6 chr17 7518303 7518306 TP53_g.14027_14029del - X54156.1(TP53):g.14027_14029del chr17 7518281 7518283 TP53_g.14050_14051ins3 - X54156.1(TP53):g.14050_14051ins3 chr17 7518275 7518276 TP53_g.14057del - X54156.1(TP53):g.14057del chr17 7518246 7518255 TP53_g.14078_14086del - X54156.1(TP53):g.14078_14086del chr17 7518243 7518246 TP53_g.14087_14089del - X54156.1(TP53):g.14087_14089del chr17 7518230 7518232 TP53_g.14101_14102ins1 - X54156.1(TP53):g.14101_14102ins1 chr17 7517866 7517868 TP53_g.14464_14465ins10 - X54156.1(TP53):g.14464_14465ins10 chr17 7517801 7517819 TP53_g.14513_14530del - X54156.1(TP53):g.14513_14530del chr17 7517796 7517816 TP53_g.14516_14535del - X54156.1(TP53):g.14516_14535del chr17 7520004 7520039 TP53_g.12297_12331del - X54156.1(TP53):g.12297_12331del chr17 7517843 7517852 TP53_g.14480_14488del - X54156.1(TP53):g.14480_14488del chr17 7520197 7520198 TP53_g.12138del - X54156.1(TP53):g.12138del chr17 7520149 7520150 TP53_g.12186del - X54156.1(TP53):g.12186del chr17 7519098 7519144 TP53_g.13190_13235del - X54156.1(TP53):g.13190_13235del chr17 7517743 7517744 TP53_g.14588del - X54156.1(TP53):g.14588del chr17 7517621 7517623 TP53_g.14709_14710ins50 - X54156.1(TP53):g.14709_14710ins50 chr17 7514658 7514758 TP53_g.17572_17671del - X54156.1(TP53):g.17572_17671del chr17 7514638 7514758 TP53_g.17572_17691del - X54156.1(TP53):g.17572_17691del chr17 7518243 7518249 TP53_g.14084_14089del - X54156.1(TP53):g.14084_14089del chr17 7517872 7517874 TP53_g.14458_14459ins51 - X54156.1(TP53):g.14458_14459ins51 chr17 7517836 7517852 TP53_g.14480_14495del - X54156.1(TP53):g.14480_14495del chr17 7520073 7520074 TP53_g.12262T>C - X54156.1(TP53):g.12262T>C chr17 7517788 7517789 TP53_g.14543A>T - X54156.1(TP53):g.14543A>T chr17 7517591 7517593 TP53_g.14739_14740ins1 - X54156.1(TP53):g.14739_14740ins1 chr17 7514728 7514729 TP53_g.17601del - X54156.1(TP53):g.17601del chr17 7520080 7520082 TP53_g.12254_12255ins1 - X54156.1(TP53):g.12254_12255ins1 chr17 7519125 7519126 TP53_g.13208C>G - X54156.1(TP53):g.13208C>G chr17 7519267 7519275 TP53_g.13059_13066del - X54156.1(TP53):g.13059_13066del chr17 7518226 7518227 TP53_g.14106C>G - X54156.1(TP53):g.14106C>G chr17 7519156 7519157 TP53_g.13177A>G - X54156.1(TP53):g.13177A>G chr17 7517843 7517846 TP53_g.14486_14488delinsTCG - X54156.1(TP53):g.14486_14488delinsTCG chr17 7518942 7518943 TP53_g.13391A>C - X54156.1(TP53):g.13391A>C chr17 7518300 7518302 TP53_g.14031_14032delinsTG - X54156.1(TP53):g.14031_14032delinsTG chr17 7518240 7518241 TP53_g.14092C>A - X54156.1(TP53):g.14092C>A chr17 7519110 7519112 TP53_g.13222_13223ins1 - X54156.1(TP53):g.13222_13223ins1 chr17 7518296 7518298 TP53_g.14035_14036ins1 - X54156.1(TP53):g.14035_14036ins1 chr17 7517772 7517773 TP53_g.14559del - X54156.1(TP53):g.14559del chr17 7519189 7519190 TP53_g.13144del - X54156.1(TP53):g.13144del chr17 7518274 7518275 TP53_g.14058G>C - X54156.1(TP53):g.14058G>C chr17 7518260 7518261 TP53_g.14072A>C - X54156.1(TP53):g.14072A>C chr17 7519166 7519167 TP53_g.13167A>T - X54156.1(TP53):g.13167A>T chr17 7519232 7519233 TP53_g.13101G>C - X54156.1(TP53):g.13101G>C chr17 7518969 7518970 TP53_g.13364C>G - X54156.1(TP53):g.13364C>G chr17 7520257 7520258 TP53_g.12078C>T - X54156.1(TP53):g.12078C>T chr17 7520561 7520562 TP53_g.11792T>C - X54156.1(TP53):g.11792T>C chr17 7517846 7517848 TP53_g.14484_14485del - X54156.1(TP53):g.14484_14485del chr17 7518280 7518294 TP53_g.14039_14052del - X54156.1(TP53):g.14039_14052del chr17 7517741 7517742 TP53_g.14590T>G - X54156.1(TP53):g.14590T>G chr17 7520562 7520563 TP53_g.11791G>A - X54156.1(TP53):g.11791G>A chr17 7517833 7517834 TP53_g.14498T>C - X54156.1(TP53):g.14498T>C chr17 7517751 7517752 TP53_g.14580C>T - X54156.1(TP53):g.14580C>T chr17 7517796 7517797 TP53_g.14535T>A - X54156.1(TP53):g.14535T>A chr17 7517754 7517755 TP53_g.14577G>C - X54156.1(TP53):g.14577G>C chr17 7519210 7519211 TP53_g.13123T>C - X54156.1(TP53):g.13123T>C chr17 7518261 7518262 TP53_g.14071G>T - X54156.1(TP53):g.14071G>T chr17 7519196 7519197 TP53_g.13137C>G - X54156.1(TP53):g.13137C>G chr17 7519126 7519127 TP53_g.13207C>T - X54156.1(TP53):g.13207C>T chr17 7519099 7519100 TP53_g.13234C>A - X54156.1(TP53):g.13234C>A chr17 7519198 7519199 TP53_g.13135G>T - X54156.1(TP53):g.13135G>T chr17 7518986 7518988 TP53_g.13346_13347ins1 - X54156.1(TP53):g.13346_13347ins1 chr17 7518238 7518241 TP53_g.14092_14094del - X54156.1(TP53):g.14092_14094del chr17 7518246 7518247 TP53_g.14086del - X54156.1(TP53):g.14086del chr17 7518241 7518242 TP53_g.14091del - X54156.1(TP53):g.14091del chr17 7518967 7518969 TP53_g.13365_13366ins1 - X54156.1(TP53):g.13365_13366ins1 chr17 7518932 7518934 TP53_g.13400_13401ins1 - X54156.1(TP53):g.13400_13401ins1 chr17 7518994 7518995 TP53_g.13339T>G - X54156.1(TP53):g.13339T>G chr17 7518954 7518956 TP53_g.13378_13379del - X54156.1(TP53):g.13378_13379del chr17 7518980 7518981 TP53_g.13353A>G - X54156.1(TP53):g.13353A>G chr17 7517863 7517864 TP53_g.14468C>A - X54156.1(TP53):g.14468C>A chr17 7518977 7518978 TP53_g.13356G>T - X54156.1(TP53):g.13356G>T chr17 7519086 7519087 TP53_g.13247C>T - X54156.1(TP53):g.13247C>T chr17 7518918 7518919 TP53_g.13415C>T - X54156.1(TP53):g.13415C>T chr17 7520200 7520201 TP53_g.12135del - X54156.1(TP53):g.12135del chr17 7517813 7517819 TP53_g.14513_14518del - X54156.1(TP53):g.14513_14518del chr17 7518965 7518966 TP53_g.13368T>C - X54156.1(TP53):g.13368T>C chr17 7514685 7514686 TP53_g.17644G>T - X54156.1(TP53):g.17644G>T chr17 7518265 7518266 TP53_g.14067A>C - X54156.1(TP53):g.14067A>C chr17 7520200 7520202 TP53_g.12134_12135ins1 - X54156.1(TP53):g.12134_12135ins1 chr17 7518311 7518312 TP53_g.14021A>G - X54156.1(TP53):g.14021A>G chr17 7517844 7517846 TP53_g.14486_14487ins1 - X54156.1(TP53):g.14486_14487ins1 chr17 7513668 7513669 TP53_g.18663G>T - X54156.1(TP53):g.18663G>T chr17 7517792 7517793 TP53_g.14539C>G - X54156.1(TP53):g.14539C>G chr17 7517784 7517786 TP53_g.14546_14547del - X54156.1(TP53):g.14546_14547del chr17 7519253 7519255 TP53_g.13079_13080ins1 - X54156.1(TP53):g.13079_13080ins1 chr17 7518990 7518991 TP53_g.13343A>G - X54156.1(TP53):g.13343A>G chr17 7518920 7518922 TP53_g.13412_13413del - X54156.1(TP53):g.13412_13413del chr17 7519125 7519127 TP53_g.13207_13208ins1 - X54156.1(TP53):g.13207_13208ins1 chr17 7517845 7517847 TP53_g.14485_14486ins1 - X54156.1(TP53):g.14485_14486ins1 chr17 7519279 7519280 TP53_g.13054del - X54156.1(TP53):g.13054del chr17 7518881 7518923 TP53_g.13411_13452del - X54156.1(TP53):g.13411_13452del chr17 7520134 7520135 TP53_g.12201C>T - X54156.1(TP53):g.12201C>T chr17 7518305 7518307 TP53_g.14026_14027ins1 - X54156.1(TP53):g.14026_14027ins1 chr17 7519209 7519210 TP53_g.13124del - X54156.1(TP53):g.13124del chr17 7520089 7520090 TP53_g.12246G>A - X54156.1(TP53):g.12246G>A chr17 7518907 7519270 TP53_g.13064_13426del - X54156.1(TP53):g.13064_13426del chr17 7518012 7518333 TP53_g.14000_14320del - X54156.1(TP53):g.14000_14320del chr17 7518305 7518306 TP53_g.14027T>G - X54156.1(TP53):g.14027T>G chr17 7517763 7517764 TP53_g.14568C>T - X54156.1(TP53):g.14568C>T chr17 7517621 7517622 TP53_g.14710C>A - X54156.1(TP53):g.14710C>A chr17 7518307 7518308 TP53_g.14025A>G - X54156.1(TP53):g.14025A>G chr17 7519215 7519216 TP53_g.13118G>T - X54156.1(TP53):g.13118G>T chr17 7519162 7519163 TP53_g.13171G>C - X54156.1(TP53):g.13171G>C chr17 7517779 7517795 TP53_g.14537_14552delins1 - X54156.1(TP53):g.14537_14552delins1 chr17 7520245 7520258 TP53_g.12078_12090del - X54156.1(TP53):g.12078_12090del chr17 7518332 7518334 TP53_g.13999_14000ins4 - X54156.1(TP53):g.13999_14000ins4 chr17 7517822 7517823 TP53_g.14509A>C - X54156.1(TP53):g.14509A>C chr17 7518278 7518280 TP53_g.14053_14054ins1 - X54156.1(TP53):g.14053_14054ins1 chr17 7517798 7517799 TP53_g.14533T>A - X54156.1(TP53):g.14533T>A chr17 7518317 7518318 TP53_g.14015A>C - X54156.1(TP53):g.14015A>C chr17 7518278 7518291 TP53_g.14042_14054del - X54156.1(TP53):g.14042_14054del chr17 7520299 7520300 TP53_g.12036C>T - X54156.1(TP53):g.12036C>T chr17 7518934 7518949 TP53_g.13385_13399del - X54156.1(TP53):g.13385_13399del chr17 7517761 7517763 TP53_g.14569_14570ins1 - X54156.1(TP53):g.14569_14570ins1 chr17 7517624 7517626 TP53_g.14706_14707ins1 - X54156.1(TP53):g.14706_14707ins1 chr17 7517843 7517844 TP53_g.14488T>G - X54156.1(TP53):g.14488T>G chr17 7517836 7517838 TP53_g.14494_14495ins8 - X54156.1(TP53):g.14494_14495ins8 chr17 7518321 7518322 TP53_g.14011C>T - X54156.1(TP53):g.14011C>T chr17 7518306 7518321 TP53_g.14012_14026del - X54156.1(TP53):g.14012_14026del chr17 7520140 7520142 TP53_g.12194_12195ins1 - X54156.1(TP53):g.12194_12195ins1 chr17 7519194 7519196 TP53_g.13138_13139ins1 - X54156.1(TP53):g.13138_13139ins1 chr17 7518299 7518301 TP53_g.14032_14033ins2 - X54156.1(TP53):g.14032_14033ins2 chr17 7517639 7517640 TP53_g.14692A>C - X54156.1(TP53):g.14692A>C chr17 7514751 7514752 TP53_g.17578del - X54156.1(TP53):g.17578del chr17 7518242 7518243 TP53_g.14090A>G - X54156.1(TP53):g.14090A>G chr17 7519194 7519196 TP53_g.13138_13139ins3 - X54156.1(TP53):g.13138_13139ins3 chr17 7517796 7517797 TP53_g.14535T>C - X54156.1(TP53):g.14535T>C chr17 7519125 7519135 TP53_g.13199_13208del - X54156.1(TP53):g.13199_13208del chr17 7518960 7518979 TP53_g.13355_13373del - X54156.1(TP53):g.13355_13373del chr17 7519098 7519099 TP53_g.13235G>A - X54156.1(TP53):g.13235G>A chr17 7518229 7518249 TP53_g.14084_14103del - X54156.1(TP53):g.14084_14103del chr17 7519247 7519249 TP53_g.13085_13086ins2 - X54156.1(TP53):g.13085_13086ins2 chr17 7519184 7519185 TP53_g.13149T>C - X54156.1(TP53):g.13149T>C chr17 7517821 7517822 TP53_g.14510G>T - X54156.1(TP53):g.14510G>T chr17 7518938 7518939 TP53_g.13395T>A - X54156.1(TP53):g.13395T>A chr17 7517640 7517642 TP53_g.14690_14691ins1 - X54156.1(TP53):g.14690_14691ins1 chr17 7518942 7518943 TP53_g.13391A>T - X54156.1(TP53):g.13391A>T chr17 7518271 7518273 TP53_g.14060_14061ins1 - X54156.1(TP53):g.14060_14061ins1 chr17 7518251 7518252 TP53_g.14081C>A - X54156.1(TP53):g.14081C>A chr17 7519282 7519283 TP53_g.13051A>G - X54156.1(TP53):g.13051A>G chr17 7518223 7518224 TP53_g.14109G>A - X54156.1(TP53):g.14109G>A chr17 7518331 7518332 TP53_g.14001T>C - X54156.1(TP53):g.14001T>C chr17 7517872 7517917 TP53_g.14415_14459del - X54156.1(TP53):g.14415_14459del chr17 7518254 7518261 TP53_g.14072_14078del - X54156.1(TP53):g.14072_14078del chr17 7518965 7518966 TP53_g.13368del - X54156.1(TP53):g.13368del chr17 7519245 7519246 TP53_g.13088C>G - X54156.1(TP53):g.13088C>G chr17 7519180 7519182 TP53_g.13152_13153ins3 - X54156.1(TP53):g.13152_13153ins3 chr17 7519100 7519104 TP53_g.13230_13233del - X54156.1(TP53):g.13230_13233del chr17 7519012 7519014 TP53_g.13320_13321ins1 - X54156.1(TP53):g.13320_13321ins1 chr17 7519001 7519002 TP53_g.13332C>G - X54156.1(TP53):g.13332C>G chr17 7518937 7518939 TP53_g.13395_13396del - X54156.1(TP53):g.13395_13396del chr17 7518904 7518905 TP53_g.13429T>G - X54156.1(TP53):g.13429T>G chr17 7518282 7518283 TP53_g.14050C>G - X54156.1(TP53):g.14050C>G chr17 7518300 7518302 TP53_g.14031_14032ins3 - X54156.1(TP53):g.14031_14032ins3 chr17 7517865 7517866 TP53_g.14466del - X54156.1(TP53):g.14466del chr17 7517838 7517839 TP53_g.14493del - X54156.1(TP53):g.14493del chr17 7517813 7517837 TP53_g.14495_14518del - X54156.1(TP53):g.14495_14518del chr17 7517760 7517762 TP53_g.14570_14571ins1 - X54156.1(TP53):g.14570_14571ins1 chr17 7517759 7517760 TP53_g.14572A>G - X54156.1(TP53):g.14572A>G chr17 7518229 7518231 TP53_g.14102_14103delinsAG - X54156.1(TP53):g.14102_14103delinsAG chr17 7517834 7517835 TP53_g.14497C>A - X54156.1(TP53):g.14497C>A chr17 7519155 7519157 TP53_g.13177_13178ins1 - X54156.1(TP53):g.13177_13178ins1 chr17 7518921 7518931 TP53_g.13403_13412del - X54156.1(TP53):g.13403_13412del chr17 7518942 7518943 TP53_g.13391del - X54156.1(TP53):g.13391del chr17 7518933 7518934 TP53_g.13400del - X54156.1(TP53):g.13400del chr17 7518962 7518964 TP53_g.13370_13371del - X54156.1(TP53):g.13370_13371del chr17 7517627 7517629 TP53_g.14703_14704ins1 - X54156.1(TP53):g.14703_14704ins1 chr17 7519161 7519163 TP53_g.13171_13172delinsAT - X54156.1(TP53):g.13171_13172delinsAT chr17 7518229 7518230 TP53_g.14103A>C - X54156.1(TP53):g.14103A>C chr17 7518965 7518979 TP53_g.13355_13368del - X54156.1(TP53):g.13355_13368del chr17 7518942 7518949 TP53_g.13385_13391del - X54156.1(TP53):g.13385_13391del chr17 7518948 7518949 TP53_g.13385del - X54156.1(TP53):g.13385del chr17 7518990 7518994 TP53_g.13340_13343del - X54156.1(TP53):g.13340_13343del chr17 7518915 7518931 TP53_g.13403_13418del - X54156.1(TP53):g.13403_13418del chr17 7518989 7518990 TP53_g.13344T>G - X54156.1(TP53):g.13344T>G chr17 7519227 7519229 TP53_g.13105_13106ins5 - X54156.1(TP53):g.13105_13106ins5 chr17 7519158 7519162 TP53_g.13172_13175del - X54156.1(TP53):g.13172_13175del chr17 7519152 7519154 TP53_g.13180_13181ins8 - X54156.1(TP53):g.13180_13181ins8 chr17 7519257 7519265 TP53_g.13069_13076del - X54156.1(TP53):g.13069_13076del chr17 7519264 7519266 TP53_g.13068_13069ins6 - X54156.1(TP53):g.13068_13069ins6 chr17 7518316 7518318 TP53_g.14015_14016ins5 - X54156.1(TP53):g.14015_14016ins5 chr17 7520295 7520296 TP53_g.12040C>T - X54156.1(TP53):g.12040C>T chr17 7518970 7518971 TP53_g.13363G>T - X54156.1(TP53):g.13363G>T chr17 7519218 7519220 TP53_g.13114_13115ins1 - X54156.1(TP53):g.13114_13115ins1 chr17 7520314 7520315 TP53_g.12021T>A - X54156.1(TP53):g.12021T>A chr17 7514697 7514698 TP53_g.17632G>C - X54156.1(TP53):g.17632G>C chr17 7518288 7518289 TP53_g.14044C>A - X54156.1(TP53):g.14044C>A chr17 7518939 7518940 TP53_g.13394del - X54156.1(TP53):g.13394del chr17 7519158 7519165 TP53_g.13169_13175del - X54156.1(TP53):g.13169_13175del chr17 7518939 7518946 TP53_g.13388_13394del - X54156.1(TP53):g.13388_13394del chr17 7518966 7518968 TP53_g.13366_13367ins2 - X54156.1(TP53):g.13366_13367ins2 chr17 7518257 7518259 TP53_g.14074_14075ins5 - X54156.1(TP53):g.14074_14075ins5 chr17 7518272 7518273 TP53_g.14060del - X54156.1(TP53):g.14060del chr17 7518303 7518309 TP53_g.14024_14029del - X54156.1(TP53):g.14024_14029del chr17 7518266 7518268 TP53_g.14065_14066ins1 - X54156.1(TP53):g.14065_14066ins1 chr17 7519143 7519145 TP53_g.13189_13190ins2 - X54156.1(TP53):g.13189_13190ins2 chr17 7518247 7518248 TP53_g.14085C>G - X54156.1(TP53):g.14085C>G chr17 7517790 7517795 TP53_g.14537_14541del - X54156.1(TP53):g.14537_14541del chr17 7517818 7517819 TP53_g.14513C>A - X54156.1(TP53):g.14513C>A chr17 7517863 7517864 TP53_g.14468del - X54156.1(TP53):g.14468del chr17 7517785 7517787 TP53_g.14545_14546ins1 - X54156.1(TP53):g.14545_14546ins1 chr17 7518902 7518903 TP53_g.13431A>T - X54156.1(TP53):g.13431A>T chr17 7519176 7519183 TP53_g.13151_13157del - X54156.1(TP53):g.13151_13157del chr17 7520093 7520096 TP53_g.12240_12242del - X54156.1(TP53):g.12240_12242del chr17 7518951 7518953 TP53_g.13381_13382ins1 - X54156.1(TP53):g.13381_13382ins1 chr17 7519135 7519136 TP53_g.13198G>T - X54156.1(TP53):g.13198G>T chr17 7519170 7519171 TP53_g.13163del - X54156.1(TP53):g.13163del chr17 7517857 7517859 TP53_g.14473_14474ins1 - X54156.1(TP53):g.14473_14474ins1 chr17 7519071 7519086 TP53_g.13248_13262del - X54156.1(TP53):g.13248_13262del chr17 7518245 7518246 TP53_g.14087A>T - X54156.1(TP53):g.14087A>T chr17 7519128 7519130 TP53_g.13204_13205ins2 - X54156.1(TP53):g.13204_13205ins2 chr17 7519162 7519163 TP53_g.13171G>A - X54156.1(TP53):g.13171G>A chr17 7519210 7519211 TP53_g.13123T>G - X54156.1(TP53):g.13123T>G chr17 7514721 7514728 TP53_g.17602_17608del - X54156.1(TP53):g.17602_17608del chr17 7518253 7518285 TP53_g.14048_14079del - X54156.1(TP53):g.14048_14079del chr17 7518254 7518256 TP53_g.14077_14078ins1 - X54156.1(TP53):g.14077_14078ins1 chr17 7519280 7519281 TP53_g.13053A>T - X54156.1(TP53):g.13053A>T chr17 7519179 7519181 TP53_g.13153_13154ins1 - X54156.1(TP53):g.13153_13154ins1 chr17 7518915 7518916 TP53_g.13418T>G - X54156.1(TP53):g.13418T>G chr17 7519235 7519240 TP53_g.13094_13098del - X54156.1(TP53):g.13094_13098del chr17 7519245 7519246 TP53_g.13088del - X54156.1(TP53):g.13088del chr17 7519212 7519214 TP53_g.13120_13121ins2 - X54156.1(TP53):g.13120_13121ins2 chr17 7519182 7519184 TP53_g.13150_13151ins4 - X54156.1(TP53):g.13150_13151ins4 chr17 7519026 7519048 TP53_g.13286_13307del - X54156.1(TP53):g.13286_13307del chr17 7519002 7519004 TP53_g.13330_13331ins2 - X54156.1(TP53):g.13330_13331ins2 chr17 7518338 7518362 TP53_g.13971_13994del - X54156.1(TP53):g.13971_13994del chr17 7518285 7518291 TP53_g.14042_14047del - X54156.1(TP53):g.14042_14047del chr17 7518271 7518279 TP53_g.14054_14061del - X54156.1(TP53):g.14054_14061del chr17 7517755 7517756 TP53_g.14576A>T - X54156.1(TP53):g.14576A>T chr17 7519019 7519020 TP53_g.13314T>G - X54156.1(TP53):g.13314T>G chr17 7519005 7519006 TP53_g.13328C>A - X54156.1(TP53):g.13328C>A chr17 7518272 7518274 TP53_g.14059_14060ins10 - X54156.1(TP53):g.14059_14060ins10 chr17 7519111 7519129 TP53_g.13205_13222del - X54156.1(TP53):g.13205_13222del chr17 7517747 7517748 TP53_g.14584G>C - X54156.1(TP53):g.14584G>C chr17 7518350 7518351 TP53_g.13982G>C - X54156.1(TP53):g.13982G>C chr17 7519159 7519162 TP53_g.13172_13174del - X54156.1(TP53):g.13172_13174del chr17 7518275 7518277 TP53_g.14056_14057ins9 - X54156.1(TP53):g.14056_14057ins9 chr17 7517851 7517853 TP53_g.14479_14480ins6 - X54156.1(TP53):g.14479_14480ins6 chr17 7519197 7519198 TP53_g.13136del - X54156.1(TP53):g.13136del chr17 7517822 7517825 TP53_g.14507_14509del - X54156.1(TP53):g.14507_14509del chr17 7519240 7519242 TP53_g.13092_13093delinsTA - X54156.1(TP53):g.13092_13093delinsTA chr17 7519186 7519189 TP53_g.13145_13147del - X54156.1(TP53):g.13145_13147del chr17 7518314 7518321 TP53_g.14012_14018del - X54156.1(TP53):g.14012_14018del chr17 7517763 7517765 TP53_g.14567_14568del - X54156.1(TP53):g.14567_14568del chr17 7518901 7519014 TP53_g.13320_13432del - X54156.1(TP53):g.13320_13432del chr17 7519211 7519212 TP53_g.13122A>T - X54156.1(TP53):g.13122A>T chr17 7518298 7518299 TP53_g.14034A>C - X54156.1(TP53):g.14034A>C chr17 7518292 7518294 TP53_g.14039_14040delinsCA - X54156.1(TP53):g.14039_14040delinsCA chr17 7519216 7519217 TP53_g.13117G>C - X54156.1(TP53):g.13117G>C chr17 7517860 7517862 TP53_g.14470_14471ins13 - X54156.1(TP53):g.14470_14471ins13 chr17 7519146 7519148 TP53_g.13186_13187ins2 - X54156.1(TP53):g.13186_13187ins2 chr17 7517792 7517793 TP53_g.14539C>A - X54156.1(TP53):g.14539C>A chr17 7518939 7518941 TP53_g.13393_13394ins3 - X54156.1(TP53):g.13393_13394ins3 chr17 7519163 7519164 TP53_g.13170A>C - X54156.1(TP53):g.13170A>C chr17 7518884 7518885 TP53_g.13449G>C - X54156.1(TP53):g.13449G>C chr17 7518313 7518314 TP53_g.14019C>A - X54156.1(TP53):g.14019C>A chr17 7517849 7517867 TP53_g.14465_14482del - X54156.1(TP53):g.14465_14482del chr17 7519249 7519251 TP53_g.13083_13084ins1 - X54156.1(TP53):g.13083_13084ins1 chr17 7519194 7519195 TP53_g.13139G>T - X54156.1(TP53):g.13139G>T chr17 7519152 7519153 TP53_g.13181C>G - X54156.1(TP53):g.13181C>G chr17 7519101 7519102 TP53_g.13232A>G - X54156.1(TP53):g.13232A>G chr17 7519097 7519098 TP53_g.13236A>T - X54156.1(TP53):g.13236A>T chr17 7518980 7518982 TP53_g.13352_13353ins1 - X54156.1(TP53):g.13352_13353ins1 chr17 7518951 7518952 TP53_g.13382G>C - X54156.1(TP53):g.13382G>C chr17 7517578 7517579 TP53_g.14753A>C - X54156.1(TP53):g.14753A>C chr17 7517611 7517613 TP53_g.14719_14720ins2 - X54156.1(TP53):g.14719_14720ins2 chr17 7517577 7517579 TP53_g.14753_14754delinsCA - X54156.1(TP53):g.14753_14754delinsCA chr17 7517776 7517777 TP53_g.14555C>T - X54156.1(TP53):g.14555C>T chr17 7519212 7519214 TP53_g.13120_13121ins4 - X54156.1(TP53):g.13120_13121ins4 chr17 7519002 7519003 TP53_g.13331C>T - X54156.1(TP53):g.13331C>T chr17 7517861 7517862 TP53_g.14470del - X54156.1(TP53):g.14470del chr17 7519120 7519122 TP53_g.13212_13213ins1 - X54156.1(TP53):g.13212_13213ins1 chr17 7517788 7517796 TP53_g.14536_14543del - X54156.1(TP53):g.14536_14543del chr17 7518279 7518281 TP53_g.14052_14053delinsTT - X54156.1(TP53):g.14052_14053delinsTT chr17 7519148 7519149 TP53_g.13185T>C - X54156.1(TP53):g.13185T>C chr17 7519253 7519275 TP53_g.13059_13080del - X54156.1(TP53):g.13059_13080del chr17 7518880 7518925 TP53_g.13409_13453del - X54156.1(TP53):g.13409_13453del chr17 7519250 7519258 TP53_g.13076_13083del - X54156.1(TP53):g.13076_13083del chr17 7520188 7520189 TP53_g.12147C>T - X54156.1(TP53):g.12147C>T chr17 7520067 7520068 TP53_g.12268del - X54156.1(TP53):g.12268del chr17 7520248 7520250 TP53_g.12086_12087ins22 - X54156.1(TP53):g.12086_12087ins22 chr17 7519097 7519103 TP53_g.13231_13236del - X54156.1(TP53):g.13231_13236del chr17 7519280 7519282 TP53_g.13052_13053ins1 - X54156.1(TP53):g.13052_13053ins1 chr17 7519249 7519251 TP53_g.13083_13084ins4 - X54156.1(TP53):g.13083_13084ins4 chr17 7520094 7520095 TP53_g.12241del - X54156.1(TP53):g.12241del chr17 7520205 7520207 TP53_g.12129_12130del - X54156.1(TP53):g.12129_12130del chr17 7517768 7517769 TP53_g.14563del - X54156.1(TP53):g.14563del chr17 7519112 7519114 TP53_g.13220_13221ins18 - X54156.1(TP53):g.13220_13221ins18 chr17 7517854 7517856 TP53_g.14476_14477ins3 - X54156.1(TP53):g.14476_14477ins3 chr17 7519235 7519253 TP53_g.13081_13098del - X54156.1(TP53):g.13081_13098del chr17 7519160 7519164 TP53_g.13170_13173del - X54156.1(TP53):g.13170_13173del chr17 7519121 7519133 TP53_g.13201_13212del - X54156.1(TP53):g.13201_13212del chr17 7517816 7517817 TP53_g.14515G>C - X54156.1(TP53):g.14515G>C chr17 7518260 7518262 TP53_g.14071_14072del - X54156.1(TP53):g.14071_14072del chr17 7518918 7518943 TP53_g.13391_13415del - X54156.1(TP53):g.13391_13415del chr17 7520071 7520074 TP53_g.12262_12264del - X54156.1(TP53):g.12262_12264del chr17 7517743 7517745 TP53_g.14587_14588ins74 - X54156.1(TP53):g.14587_14588ins74 chr17 7519224 7519226 TP53_g.13108_13109delinsTT - X54156.1(TP53):g.13108_13109delinsTT chr17 7519202 7519204 TP53_g.13130_13131ins1 - X54156.1(TP53):g.13130_13131ins1 chr17 7518321 7518330 TP53_g.14003_14011del - X54156.1(TP53):g.14003_14011del chr17 7514729 7514730 TP53_g.17600del - X54156.1(TP53):g.17600del chr17 7519173 7519186 TP53_g.13148_13160del - X54156.1(TP53):g.13148_13160del chr17 7519199 7519201 TP53_g.13133_13134del - X54156.1(TP53):g.13133_13134del chr17 7517822 7517824 TP53_g.14508_14509del - X54156.1(TP53):g.14508_14509del chr17 7517634 7517635 TP53_g.14697del - X54156.1(TP53):g.14697del chr17 7519118 7519144 TP53_g.13190_13215del - X54156.1(TP53):g.13190_13215del chr17 7517856 7517857 TP53_g.14475del - X54156.1(TP53):g.14475del chr17 7517850 7517852 TP53_g.14480_14481del - X54156.1(TP53):g.14480_14481del chr17 7519126 7519186 TP53_g.13148_13207del - X54156.1(TP53):g.13148_13207del chr17 7519260 7519261 TP53_g.13073A>T - X54156.1(TP53):g.13073A>T chr17 7519097 7519099 TP53_g.13235_13236del - X54156.1(TP53):g.13235_13236del chr17 7518290 7518292 TP53_g.14041_14042ins8 - X54156.1(TP53):g.14041_14042ins8 chr17 7518960 7518962 TP53_g.13372_13373ins1 - X54156.1(TP53):g.13372_13373ins1 chr17 7517788 7517798 TP53_g.14534_14543del - X54156.1(TP53):g.14534_14543del chr17 7519014 7519015 TP53_g.13319G>T - X54156.1(TP53):g.13319G>T chr17 7517603 7517622 TP53_g.14710_14728del - X54156.1(TP53):g.14710_14728del chr17 7518992 7518994 TP53_g.13340_13341del - X54156.1(TP53):g.13340_13341del chr17 7517844 7517845 TP53_g.14487del - X54156.1(TP53):g.14487del chr17 7517849 7517850 TP53_g.14482G>C - X54156.1(TP53):g.14482G>C chr17 7517764 7517765 TP53_g.14567C>G - X54156.1(TP53):g.14567C>G chr17 7517636 7517638 TP53_g.14694_14695ins1 - X54156.1(TP53):g.14694_14695ins1 chr17 7517837 7517838 TP53_g.14494T>A - X54156.1(TP53):g.14494T>A chr17 7519163 7519165 TP53_g.13169_13170ins1 - X54156.1(TP53):g.13169_13170ins1 chr17 7518287 7518288 TP53_g.14045A>T - X54156.1(TP53):g.14045A>T chr17 7519189 7519190 TP53_g.13144C>A - X54156.1(TP53):g.13144C>A chr17 7519167 7519169 TP53_g.13165_13166ins1 - X54156.1(TP53):g.13165_13166ins1 chr17 7517849 7517850 TP53_g.14482G>T - X54156.1(TP53):g.14482G>T chr17 7517818 7517820 TP53_g.14512_14513delinsTT - X54156.1(TP53):g.14512_14513delinsTT chr17 7519219 7519220 TP53_g.13114G>A - X54156.1(TP53):g.13114G>A chr17 7519249 7519265 TP53_g.13069_13084del - X54156.1(TP53):g.13069_13084del chr17 7520296 7520302 TP53_g.12034_12039del - X54156.1(TP53):g.12034_12039del chr17 7518905 7518917 TP53_g.13417_13428del - X54156.1(TP53):g.13417_13428del chr17 7518884 7518885 TP53_g.13449G>A - X54156.1(TP53):g.13449G>A chr17 7519165 7519166 TP53_g.13168del - X54156.1(TP53):g.13168del chr17 7517828 7517829 TP53_g.14503T>A - X54156.1(TP53):g.14503T>A chr17 7518264 7518266 TP53_g.14067_14068ins1 - X54156.1(TP53):g.14067_14068ins1 chr17 7518273 7518275 TP53_g.14058_14059ins1 - X54156.1(TP53):g.14058_14059ins1 chr17 7518961 7518962 TP53_g.13372G>T - X54156.1(TP53):g.13372G>T chr17 7517800 7517801 TP53_g.14531A>T - X54156.1(TP53):g.14531A>T chr17 7519211 7519212 TP53_g.13122A>G - X54156.1(TP53):g.13122A>G chr17 7518980 7518981 TP53_g.13353A>T - X54156.1(TP53):g.13353A>T chr17 7517781 7517782 TP53_g.14550A>C - X54156.1(TP53):g.14550A>C chr17 7519261 7519263 TP53_g.13071_13072delinsGT - X54156.1(TP53):g.13071_13072delinsGT chr17 7519204 7519206 TP53_g.13128_13129delinsAC - X54156.1(TP53):g.13128_13129delinsAC chr17 7519204 7519205 TP53_g.13129A>T - X54156.1(TP53):g.13129A>T chr17 7518256 7518258 TP53_g.14075_14076delinsTT - X54156.1(TP53):g.14075_14076delinsTT chr17 7518230 7518231 TP53_g.14102del - X54156.1(TP53):g.14102del chr17 7518987 7518989 TP53_g.13345_13346delinsTT - X54156.1(TP53):g.13345_13346delinsTT chr17 7519234 7519236 TP53_g.13098_13099delinsTT - X54156.1(TP53):g.13098_13099delinsTT chr17 7519196 7519198 TP53_g.13136_13137delinsTT - X54156.1(TP53):g.13136_13137delinsTT chr17 7517852 7517879 TP53_g.14453_14479del - X54156.1(TP53):g.14453_14479del chr17 7517773 7517775 TP53_g.14557_14558delinsTT - X54156.1(TP53):g.14557_14558delinsTT chr17 7519013 7519015 TP53_g.13319_13320delinsAA - X54156.1(TP53):g.13319_13320delinsAA chr17 7520586 7520587 TP53_g.11767A>T - X54156.1(TP53):g.11767A>T chr17 7520565 7520566 TP53_g.11788A>T - X54156.1(TP53):g.11788A>T chr17 7518232 7518234 TP53_g.14099_14100delinsTT - X54156.1(TP53):g.14099_14100delinsTT chr17 7518313 7518314 TP53_g.14019C>T - X54156.1(TP53):g.14019C>T chr17 7519111 7519112 TP53_g.13222C>T - X54156.1(TP53):g.13222C>T chr17 7519273 7519274 TP53_g.13060C>T - X54156.1(TP53):g.13060C>T chr17 7518996 7518997 TP53_g.13337C>A - X54156.1(TP53):g.13337C>A chr17 7519158 7519159 TP53_g.13175T>A - X54156.1(TP53):g.13175T>A chr17 7519225 7519226 TP53_g.13108G>C - X54156.1(TP53):g.13108G>C chr17 7519152 7519154 TP53_g.13180_13181delinsTG - X54156.1(TP53):g.13180_13181delinsTG chr17 7519121 7519122 TP53_g.13212A>T - X54156.1(TP53):g.13212A>T chr17 7518993 7518995 TP53_g.13339_13340ins1 - X54156.1(TP53):g.13339_13340ins1 chr17 7517808 7517809 TP53_g.14523A>C - X54156.1(TP53):g.14523A>C chr17 7518912 7518913 TP53_g.13421G>C - X54156.1(TP53):g.13421G>C chr17 7520277 7520279 TP53_g.12057_12058del - X54156.1(TP53):g.12057_12058del chr17 7519261 7519270 TP53_g.13064_13072del - X54156.1(TP53):g.13064_13072del chr17 7519277 7519278 TP53_g.13056A>C - X54156.1(TP53):g.13056A>C chr17 7519243 7519244 TP53_g.13090G>T - X54156.1(TP53):g.13090G>T chr17 7519219 7519220 TP53_g.13114G>C - X54156.1(TP53):g.13114G>C chr17 7519235 7519236 TP53_g.13098C>A - X54156.1(TP53):g.13098C>A chr17 7519209 7519210 TP53_g.13124T>C - X54156.1(TP53):g.13124T>C chr17 7517790 7517804 TP53_g.14528_14541del - X54156.1(TP53):g.14528_14541del chr17 7517752 7517753 TP53_g.14579A>G - X54156.1(TP53):g.14579A>G chr17 7518912 7518922 TP53_g.13412_13421del - X54156.1(TP53):g.13412_13421del chr17 7517794 7517795 TP53_g.14537C>T - X54156.1(TP53):g.14537C>T chr17 7520223 7520224 TP53_g.12112del - X54156.1(TP53):g.12112del chr17 7519137 7519145 TP53_g.13189_13196del - X54156.1(TP53):g.13189_13196del chr17 7518190 7518231 TP53_g.14102_14142del - X54156.1(TP53):g.14102_14142del chr17 7519222 7519223 TP53_g.13111G>A - X54156.1(TP53):g.13111G>A chr17 7518910 7518922 TP53_g.13412_13423del - X54156.1(TP53):g.13412_13423del chr17 7519233 7519234 TP53_g.13100T>G - X54156.1(TP53):g.13100T>G chr17 7520037 7520237 TP53_g.12099_12298del - X54156.1(TP53):g.12099_12298del chr17 7514745 7514747 TP53_g.17583_17584ins4 - X54156.1(TP53):g.17583_17584ins4 chr17 7518224 7518226 TP53_g.14107_14108ins200 - X54156.1(TP53):g.14107_14108ins200 chr17 7517725 7517744 TP53_g.14588_14606del - X54156.1(TP53):g.14588_14606del chr17 7518917 7518919 TP53_g.13415_13416delinsTG - X54156.1(TP53):g.13415_13416delinsTG chr17 7517630 7517631 TP53_g.14701del - X54156.1(TP53):g.14701del chr17 7518229 7518237 TP53_g.14096_14103del - X54156.1(TP53):g.14096_14103del chr17 7520075 7520076 TP53_g.12260C>G - X54156.1(TP53):g.12260C>G chr17 7517814 7517815 TP53_g.14517G>T - X54156.1(TP53):g.14517G>T chr17 7518255 7518257 TP53_g.14076_14077delinsAG - X54156.1(TP53):g.14076_14077delinsAG chr17 7518939 7518941 TP53_g.13393_13394ins1 - X54156.1(TP53):g.13393_13394ins1 chr17 7518954 7518956 TP53_g.13378_13379ins4 - X54156.1(TP53):g.13378_13379ins4 chr17 7517823 7517825 TP53_g.14507_14508delinsCC - X54156.1(TP53):g.14507_14508delinsCC chr17 7518248 7518249 TP53_g.14084A>T - X54156.1(TP53):g.14084A>T chr17 7518944 7518945 TP53_g.13389A>T - X54156.1(TP53):g.13389A>T chr17 7517728 7517744 TP53_g.14588_14603del - X54156.1(TP53):g.14588_14603del chr17 7517851 7517852 TP53_g.14480del - X54156.1(TP53):g.14480del chr17 7518236 7518240 TP53_g.14093_14096del - X54156.1(TP53):g.14093_14096del chr17 7518255 7518256 TP53_g.14077C>G - X54156.1(TP53):g.14077C>G chr17 7517854 7517855 TP53_g.14477del - X54156.1(TP53):g.14477del chr17 7517645 7517647 TP53_g.14685_14686ins1 - X54156.1(TP53):g.14685_14686ins1 chr17 7519104 7519105 TP53_g.13229del - X54156.1(TP53):g.13229del chr17 7518317 7518318 TP53_g.14015A>G - X54156.1(TP53):g.14015A>G chr17 7518296 7518298 TP53_g.14035_14036ins3 - X54156.1(TP53):g.14035_14036ins3 chr17 7518973 7518982 TP53_g.13352_13360del - X54156.1(TP53):g.13352_13360del chr17 7519103 7519104 TP53_g.13230A>G - X54156.1(TP53):g.13230A>G chr17 7518248 7518258 TP53_g.14075_14084del - X54156.1(TP53):g.14075_14084del chr17 7520128 7520129 TP53_g.12207T>A - X54156.1(TP53):g.12207T>A chr17 7517626 7517631 TP53_g.14701_14705del - X54156.1(TP53):g.14701_14705del chr17 7520146 7520147 TP53_g.12189del - X54156.1(TP53):g.12189del chr17 7520197 7520198 TP53_g.12138C>G - X54156.1(TP53):g.12138C>G chr17 7519180 7519192 TP53_g.13142_13153del - X54156.1(TP53):g.13142_13153del chr17 7517744 7517745 TP53_g.14587A>G - X54156.1(TP53):g.14587A>G chr17 7520278 7520279 TP53_g.12057C>A - X54156.1(TP53):g.12057C>A chr17 7520113 7520114 TP53_g.12222del - X54156.1(TP53):g.12222del chr17 7517648 7517649 TP53_g.14683del - X54156.1(TP53):g.14683del chr17 7517760 7517783 TP53_g.14549_14571del - X54156.1(TP53):g.14549_14571del chr17 7519164 7519171 TP53_g.13163_13169del - X54156.1(TP53):g.13163_13169del chr17 7517784 7517785 TP53_g.14547G>T - X54156.1(TP53):g.14547G>T chr17 7517565 7517616 TP53_g.14716_14766del - X54156.1(TP53):g.14716_14766del chr17 7520071 7520075 TP53_g.12261_12264del - X54156.1(TP53):g.12261_12264del chr17 7517827 7517828 TP53_g.14504G>T - X54156.1(TP53):g.14504G>T chr17 7519228 7519229 TP53_g.13105T>A - X54156.1(TP53):g.13105T>A chr17 7519278 7519280 TP53_g.13054_13055ins1 - X54156.1(TP53):g.13054_13055ins1 chr17 7520310 7520311 TP53_g.12025C>T - X54156.1(TP53):g.12025C>T chr17 7520181 7520183 TP53_g.12153_12154del - X54156.1(TP53):g.12153_12154del chr17 7520154 7520155 TP53_g.12181C>T - X54156.1(TP53):g.12181C>T chr17 7520075 7520076 TP53_g.12260C>T - X54156.1(TP53):g.12260C>T chr17 7519238 7519240 TP53_g.13094_13095del - X54156.1(TP53):g.13094_13095del chr17 7519178 7519186 TP53_g.13148_13155del - X54156.1(TP53):g.13148_13155del chr17 7519093 7519094 TP53_g.13240T>A - X54156.1(TP53):g.13240T>A chr17 7518971 7518982 TP53_g.13352_13362del - X54156.1(TP53):g.13352_13362del chr17 7518253 7518255 TP53_g.14078_14079del - X54156.1(TP53):g.14078_14079del chr17 7517759 7517771 TP53_g.14561_14572del - X54156.1(TP53):g.14561_14572del chr17 7517612 7517614 TP53_g.14718_14719ins4 - X54156.1(TP53):g.14718_14719ins4 chr17 7520316 7520317 TP53_g.12019A>T - X54156.1(TP53):g.12019A>T chr17 7520314 7520315 TP53_g.12021del - X54156.1(TP53):g.12021del chr17 7520290 7520291 TP53_g.12045del - X54156.1(TP53):g.12045del chr17 7520167 7520174 TP53_g.12162_12168del - X54156.1(TP53):g.12162_12168del chr17 7520124 7520126 TP53_g.12210_12211del - X54156.1(TP53):g.12210_12211del chr17 7518947 7518955 TP53_g.13379_13386del - X54156.1(TP53):g.13379_13386del chr17 7518927 7518931 TP53_g.13403_13406del - X54156.1(TP53):g.13403_13406del chr17 7518903 7518904 TP53_g.13430del - X54156.1(TP53):g.13430del chr17 7518251 7518253 TP53_g.14080_14081ins1 - X54156.1(TP53):g.14080_14081ins1 chr17 7518225 7518228 TP53_g.14105_14107del - X54156.1(TP53):g.14105_14107del chr17 7517821 7517837 TP53_g.14495_14510del - X54156.1(TP53):g.14495_14510del chr17 7517830 7517831 TP53_g.14501del - X54156.1(TP53):g.14501del chr17 7517779 7517795 TP53_g.14537_14552del - X54156.1(TP53):g.14537_14552del chr17 7517761 7517765 TP53_g.14567_14570del - X54156.1(TP53):g.14567_14570del chr17 7520070 7520071 TP53_g.12265T>A - X54156.1(TP53):g.12265T>A chr17 7518298 7518300 TP53_g.14033_14034del - X54156.1(TP53):g.14033_14034del chr17 7519264 7519265 TP53_g.13069del - X54156.1(TP53):g.13069del chr17 7518308 7518310 TP53_g.14023_14024ins11 - X54156.1(TP53):g.14023_14024ins11 chr17 7518909 7518910 TP53_g.13424del - X54156.1(TP53):g.13424del chr17 7519146 7519156 TP53_g.13178_13187del - X54156.1(TP53):g.13178_13187del chr17 7518915 7518917 TP53_g.13417_13418ins1 - X54156.1(TP53):g.13417_13418ins1 chr17 7518296 7518298 TP53_g.14035_14036delinsAT - X54156.1(TP53):g.14035_14036delinsAT chr17 7519090 7519096 TP53_g.13238_13243del - X54156.1(TP53):g.13238_13243del chr17 7517795 7517796 TP53_g.14536del - X54156.1(TP53):g.14536del chr17 7517619 7517620 TP53_g.14712del - X54156.1(TP53):g.14712del chr17 7520195 7520201 TP53_g.12135_12140del - X54156.1(TP53):g.12135_12140del chr17 7517782 7517784 TP53_g.14548_14549del - X54156.1(TP53):g.14548_14549del chr17 7519004 7519005 TP53_g.13329del - X54156.1(TP53):g.13329del chr17 7518262 7518263 TP53_g.14070del - X54156.1(TP53):g.14070del chr17 7518252 7518254 TP53_g.14079_14080ins1 - X54156.1(TP53):g.14079_14080ins1 chr17 7517761 7517762 TP53_g.14570C>A - X54156.1(TP53):g.14570C>A chr17 7518206 7518207 TP53_g.14126C>A - X54156.1(TP53):g.14126C>A chr17 7514726 7514727 TP53_g.17603G>A - X54156.1(TP53):g.17603G>A chr17 7520042 7520043 TP53_g.12293del - X54156.1(TP53):g.12293del chr17 7518947 7518948 TP53_g.13386G>T - X54156.1(TP53):g.13386G>T chr17 7517584 7517585 TP53_g.14747C>T - X54156.1(TP53):g.14747C>T chr17 7518928 7518930 TP53_g.13404_13405delins1 - X54156.1(TP53):g.13404_13405delins1 chr17 7518279 7518309 TP53_g.14024_14053del - X54156.1(TP53):g.14024_14053del chr17 7518213 7518214 TP53_g.14119C>A - X54156.1(TP53):g.14119C>A chr17 7514750 7514751 TP53_g.17579G>T - X54156.1(TP53):g.17579G>T chr17 7519180 7519181 TP53_g.13153C>T - X54156.1(TP53):g.13153C>T chr17 7518252 7518253 TP53_g.14080C>A - X54156.1(TP53):g.14080C>A chr17 7514644 7514645 TP53_g.17685G>T - X54156.1(TP53):g.17685G>T chr17 7518273 7518274 TP53_g.14059C>A - X54156.1(TP53):g.14059C>A chr17 7518229 7518230 TP53_g.14103A>G - X54156.1(TP53):g.14103A>G chr17 7518907 7518908 TP53_g.13426G>A - X54156.1(TP53):g.13426G>A chr17 7517795 7517796 TP53_g.14536C>T - X54156.1(TP53):g.14536C>T chr17 7517711 7517712 TP53_g.14620G>T - X54156.1(TP53):g.14620G>T chr17 7517888 7517889 TP53_g.14443C>A - X54156.1(TP53):g.14443C>A chr17 7517806 7517816 TP53_g.14516_14525del - X54156.1(TP53):g.14516_14525del chr17 7520058 7520059 TP53_g.12277C>T - X54156.1(TP53):g.12277C>T chr17 7519090 7519091 TP53_g.13243G>T - X54156.1(TP53):g.13243G>T chr17 7520115 7520116 TP53_g.12220C>T - X54156.1(TP53):g.12220C>T chr17 7518349 7518350 TP53_g.13983C>A - X54156.1(TP53):g.13983C>A chr17 7518926 7518928 TP53_g.13406_13407ins1 - X54156.1(TP53):g.13406_13407ins1 chr17 7520036 7520037 TP53_g.12299G>C - X54156.1(TP53):g.12299G>C chr17 7517826 7517827 TP53_g.14505G>T - X54156.1(TP53):g.14505G>T chr17 7518887 7518888 TP53_g.13446C>T - X54156.1(TP53):g.13446C>T chr17 7519180 7519189 TP53_g.13145_13153del - X54156.1(TP53):g.13145_13153del chr17 7519198 7519202 TP53_g.13132_13135del - X54156.1(TP53):g.13132_13135del chr17 7520149 7520160 TP53_g.12176_12186del - X54156.1(TP53):g.12176_12186del chr17 7514725 7514727 TP53_g.17603_17604del - X54156.1(TP53):g.17603_17604del chr17 7517816 7517821 TP53_g.14511_14515delins1 - X54156.1(TP53):g.14511_14515delins1 chr17 7518930 7518931 TP53_g.13403A>C - X54156.1(TP53):g.13403A>C chr17 7519120 7519121 TP53_g.13213C>A - X54156.1(TP53):g.13213C>A chr17 7519173 7519177 TP53_g.13157_13160delins3 - X54156.1(TP53):g.13157_13160delins3 chr17 7519144 7519145 TP53_g.13189G>T - X54156.1(TP53):g.13189G>T chr17 7520082 7520083 TP53_g.12253del - X54156.1(TP53):g.12253del chr17 7514736 7514737 TP53_g.17593G>A - X54156.1(TP53):g.17593G>A chr17 7514726 7514727 TP53_g.17603del - X54156.1(TP53):g.17603del chr17 7518956 7518958 TP53_g.13376_13377delins1 - X54156.1(TP53):g.13376_13377delins1 chr17 7519119 7519122 TP53_g.13212_13214del - X54156.1(TP53):g.13212_13214del chr17 7514691 7514692 TP53_g.17638C>A - X54156.1(TP53):g.17638C>A chr17 7517875 7517876 TP53_g.14456del - X54156.1(TP53):g.14456del chr17 7517859 7517890 TP53_g.14442_14472del - X54156.1(TP53):g.14442_14472del chr17 7518905 7518906 TP53_g.13428C>T - X54156.1(TP53):g.13428C>T chr17 7517831 7517837 TP53_g.14495_14500del - X54156.1(TP53):g.14495_14500del chr17 7518306 7518307 TP53_g.14026C>G - X54156.1(TP53):g.14026C>G chr17 7519147 7519162 TP53_g.13172_13186del - X54156.1(TP53):g.13172_13186del chr17 7520083 7520084 TP53_g.12252C>G - X54156.1(TP53):g.12252C>G chr17 7520045 7520046 TP53_g.12290del - X54156.1(TP53):g.12290del chr17 7518910 7518924 TP53_g.13410_13423del - X54156.1(TP53):g.13410_13423del chr17 7517821 7517823 TP53_g.14509_14510ins8 - X54156.1(TP53):g.14509_14510ins8 chr17 7519001 7519002 TP53_g.13332C>A - X54156.1(TP53):g.13332C>A chr17 7518224 7518225 TP53_g.14108A>G - X54156.1(TP53):g.14108A>G chr17 7518320 7518324 TP53_g.14009_14012del - X54156.1(TP53):g.14009_14012del chr17 7518279 7518280 TP53_g.14053del - X54156.1(TP53):g.14053del chr17 7517820 7517821 TP53_g.14511A>C - X54156.1(TP53):g.14511A>C chr17 7518278 7518283 TP53_g.14050_14054del - X54156.1(TP53):g.14050_14054del chr17 7520159 7520160 TP53_g.12176C>T - X54156.1(TP53):g.12176C>T chr17 7519158 7519159 TP53_g.13175T>C - X54156.1(TP53):g.13175T>C chr17 7517838 7517840 TP53_g.14492_14493ins1 - X54156.1(TP53):g.14492_14493ins1 chr17 7517844 7517845 TP53_g.14487delins2 - X54156.1(TP53):g.14487delins2 chr17 7519240 7519252 TP53_g.13082_13093del - X54156.1(TP53):g.13082_13093del chr17 7520257 7520261 TP53_g.12075_12078del - X54156.1(TP53):g.12075_12078del chr17 7517756 7517761 TP53_g.14571_14575del - X54156.1(TP53):g.14571_14575del chr17 7517881 7517882 TP53_g.14450A>C - X54156.1(TP53):g.14450A>C chr17 7518991 7518992 TP53_g.13342T>A - X54156.1(TP53):g.13342T>A chr17 7518258 7518260 TP53_g.14073_14074del - X54156.1(TP53):g.14073_14074del chr17 7518943 7518944 TP53_g.13390del - X54156.1(TP53):g.13390del chr17 7518320 7518321 TP53_g.14012T>A - X54156.1(TP53):g.14012T>A chr17 7518324 7518333 TP53_g.14000_14008del - X54156.1(TP53):g.14000_14008del chr17 7520201 7520203 TP53_g.12133_12134ins2 - X54156.1(TP53):g.12133_12134ins2 chr17 7518257 7518259 TP53_g.14074_14075ins1 - X54156.1(TP53):g.14074_14075ins1 chr17 7520571 7520572 TP53_g.11782A>G - X54156.1(TP53):g.11782A>G chr17 7517759 7517761 TP53_g.14571_14572ins1 - X54156.1(TP53):g.14571_14572ins1 chr17 7519005 7519006 TP53_g.13328C>G - X54156.1(TP53):g.13328C>G chr17 7518186 7518235 TP53_g.14098_14146del - X54156.1(TP53):g.14098_14146del chr17 7517794 7517796 TP53_g.14536_14537ins5 - X54156.1(TP53):g.14536_14537ins5 chr17 7517855 7517857 TP53_g.14475_14476ins1 - X54156.1(TP53):g.14475_14476ins1 chr17 7518877 7518878 TP53_g.13456T>A - X54156.1(TP53):g.13456T>A chr17 7519204 7519205 TP53_g.13129del - X54156.1(TP53):g.13129del chr17 7518972 7518973 TP53_g.13361T>C - X54156.1(TP53):g.13361T>C chr17 7519126 7519128 TP53_g.13206_13207delinsTT - X54156.1(TP53):g.13206_13207delinsTT chr17 7517855 7517857 TP53_g.14475_14476ins12 - X54156.1(TP53):g.14475_14476ins12 chr17 7518266 7518267 TP53_g.14066A>T - X54156.1(TP53):g.14066A>T chr17 7518324 7518326 TP53_g.14007_14008del - X54156.1(TP53):g.14007_14008del chr17 7519120 7519121 TP53_g.13213C>G - X54156.1(TP53):g.13213C>G chr17 7519250 7519265 TP53_g.13069_13083del - X54156.1(TP53):g.13069_13083del chr17 7518932 7518934 TP53_g.13400_13401del - X54156.1(TP53):g.13400_13401del chr17 7518244 7518246 TP53_g.14087_14088delinsGA - X54156.1(TP53):g.14087_14088delinsGA chr17 7518956 7518957 TP53_g.13377del - X54156.1(TP53):g.13377del chr17 7517818 7517820 TP53_g.14512_14513ins1 - X54156.1(TP53):g.14512_14513ins1 chr17 7518295 7518296 TP53_g.14037del - X54156.1(TP53):g.14037del chr17 7519131 7519133 TP53_g.13201_13202ins3 - X54156.1(TP53):g.13201_13202ins3 chr17 7520233 7520234 TP53_g.12102C>T - X54156.1(TP53):g.12102C>T chr17 7520266 7520267 TP53_g.12069G>C - X54156.1(TP53):g.12069G>C chr17 7520252 7520253 TP53_g.12083G>T - X54156.1(TP53):g.12083G>T chr17 7518962 7518963 TP53_g.13371A>G - X54156.1(TP53):g.13371A>G chr17 7514643 7514739 TP53_g.17591_17686del - X54156.1(TP53):g.17591_17686del chr17 7519248 7519250 TP53_g.13084_13085ins1 - X54156.1(TP53):g.13084_13085ins1 chr17 7518967 7518969 TP53_g.13365_13366ins2 - X54156.1(TP53):g.13365_13366ins2 chr17 7517850 7517852 TP53_g.14480_14481delinsCG - X54156.1(TP53):g.14480_14481delinsCG chr17 7518315 7518316 TP53_g.14017C>A - X54156.1(TP53):g.14017C>A chr17 7518254 7518256 TP53_g.14077_14078ins21 - X54156.1(TP53):g.14077_14078ins21 chr17 7517615 7517616 TP53_g.14716A>T - X54156.1(TP53):g.14716A>T chr17 7517761 7517763 TP53_g.14569_14570ins2 - X54156.1(TP53):g.14569_14570ins2 chr17 7520184 7520185 TP53_g.12151C>G - X54156.1(TP53):g.12151C>G chr17 7517862 7517864 TP53_g.14468_14469ins25 - X54156.1(TP53):g.14468_14469ins25 chr17 7519201 7519202 TP53_g.13132C>A - X54156.1(TP53):g.13132C>A chr17 7519188 7519190 TP53_g.13144_13145ins1 - X54156.1(TP53):g.13144_13145ins1 chr17 7519101 7519102 TP53_g.13232A>T - X54156.1(TP53):g.13232A>T chr17 7519098 7519100 TP53_g.13234_13235ins1 - X54156.1(TP53):g.13234_13235ins1 chr17 7519103 7519105 TP53_g.13229_13230ins1 - X54156.1(TP53):g.13229_13230ins1 chr17 7519013 7519015 TP53_g.13319_13320ins1 - X54156.1(TP53):g.13319_13320ins1 chr17 7518303 7518304 TP53_g.14029C>T - X54156.1(TP53):g.14029C>T chr17 7518299 7518310 TP53_g.14023_14033del - X54156.1(TP53):g.14023_14033del chr17 7518941 7518947 TP53_g.13387_13392delins10 - X54156.1(TP53):g.13387_13392delins10 chr17 7518304 7518305 TP53_g.14028A>T - X54156.1(TP53):g.14028A>T chr17 7520163 7520164 TP53_g.12172C>T - X54156.1(TP53):g.12172C>T chr17 7517833 7517855 TP53_g.14477_14498del - X54156.1(TP53):g.14477_14498del chr17 7519255 7519256 TP53_g.13078G>T - X54156.1(TP53):g.13078G>T chr17 7520279 7520280 TP53_g.12056G>T - X54156.1(TP53):g.12056G>T chr17 7519161 7519163 TP53_g.13171_13172ins9 - X54156.1(TP53):g.13171_13172ins9 chr17 7520182 7520183 TP53_g.12153C>G - X54156.1(TP53):g.12153C>G chr17 7517749 7517750 TP53_g.14582A>G - X54156.1(TP53):g.14582A>G chr17 7519124 7519126 TP53_g.13208_13209delinsAT - X54156.1(TP53):g.13208_13209delinsAT chr17 7519237 7519249 TP53_g.13085_13096del - X54156.1(TP53):g.13085_13096del chr17 7519101 7519103 TP53_g.13231_13232del - X54156.1(TP53):g.13231_13232del chr17 7518937 7518938 TP53_g.13396T>A - X54156.1(TP53):g.13396T>A chr17 7518246 7518247 TP53_g.14086C>T - X54156.1(TP53):g.14086C>T chr17 7517635 7517636 TP53_g.14696C>G - X54156.1(TP53):g.14696C>G chr17 7519109 7519110 TP53_g.13224G>C - X54156.1(TP53):g.13224G>C chr17 7518237 7518243 TP53_g.14090_14095del - X54156.1(TP53):g.14090_14095del chr17 7519244 7519245 TP53_g.13089T>C - X54156.1(TP53):g.13089T>C chr17 7519236 7519237 TP53_g.13097A>T - X54156.1(TP53):g.13097A>T chr17 7517835 7517837 TP53_g.14495_14496ins2 - X54156.1(TP53):g.14495_14496ins2 chr17 7518254 7518256 TP53_g.14077_14078ins18 - X54156.1(TP53):g.14077_14078ins18 chr17 7519109 7519135 TP53_g.13199_13224del - X54156.1(TP53):g.13199_13224del chr17 7517743 7517880 TP53_g.14452_14588del - X54156.1(TP53):g.14452_14588del chr17 7518322 7518323 TP53_g.14010A>C - X54156.1(TP53):g.14010A>C chr17 7517584 7517598 TP53_g.14734_14747del - X54156.1(TP53):g.14734_14747del chr17 7517721 7517722 TP53_g.14610C>T - X54156.1(TP53):g.14610C>T chr17 7519230 7519232 TP53_g.13102_13103ins1 - X54156.1(TP53):g.13102_13103ins1 chr17 7517817 7517818 TP53_g.14514delinsCCC - X54156.1(TP53):g.14514delinsCCC chr17 7518941 7518947 TP53_g.13387_13392delinsCCCACACGCA - X54156.1(TP53):g.13387_13392delinsCCCACACGCA chr17 7514679 7514680 TP53_g.17650G>A - X54156.1(TP53):g.17650G>A chr17 7519180 7519181 TP53_g.13153del - X54156.1(TP53):g.13153del chr17 7518249 7518250 TP53_g.14083del - X54156.1(TP53):g.14083del chr17 7519119 7519120 TP53_g.13214del - X54156.1(TP53):g.13214del chr17 7517818 7517820 TP53_g.14512_14513ins6 - X54156.1(TP53):g.14512_14513ins6 chr17 7518905 7518906 TP53_g.13428C>A - X54156.1(TP53):g.13428C>A chr17 7518987 7518988 TP53_g.13346del - X54156.1(TP53):g.13346del chr17 7520085 7520086 TP53_g.12250T>C - X54156.1(TP53):g.12250T>C chr17 7520302 7520303 TP53_g.12033T>C - X54156.1(TP53):g.12033T>C chr17 7514655 7514656 TP53_g.17674T>G - X54156.1(TP53):g.17674T>G chr17 7520039 7520040 TP53_g.12296C>A - X54156.1(TP53):g.12296C>A chr17 7517248 7517255 TP53_g.15081_15088del - X54156.1(TP53):g.15081_15088del#insertion in reference# chr17 7519186 7519187 TP53_g.13147C>A - X54156.1(TP53):g.13147C>A chr17 7518186 7518187 TP53_g.14146T>A - X54156.1(TP53):g.14146T>A chr17 7514668 7514669 TP53_g.17661del - X54156.1(TP53):g.17661del chr17 7518963 7518964 TP53_g.13370G>C - X54156.1(TP53):g.13370G>C chr17 7517751 7517786 TP53_g.14546_14580del - X54156.1(TP53):g.14546_14580del chr17 7517813 7517840 TP53_g.14492_14518del - X54156.1(TP53):g.14492_14518del chr17 7518292 7518297 TP53_g.14036_14040del - X54156.1(TP53):g.14036_14040del chr17 7517812 7517814 TP53_g.14518_14519ins2 - X54156.1(TP53):g.14518_14519ins2 chr17 7519173 7519174 TP53_g.13160G>C - X54156.1(TP53):g.13160G>C chr17 7517873 7517879 TP53_g.14453_14458del - X54156.1(TP53):g.14453_14458del chr17 7519150 7519151 TP53_g.13183C>G - X54156.1(TP53):g.13183C>G chr17 7517810 7517812 TP53_g.14520_14521del - X54156.1(TP53):g.14520_14521del chr17 7518986 7518987 TP53_g.13347del - X54156.1(TP53):g.13347del chr17 7517651 7517652 TP53_g.14680G>C - X54156.1(TP53):g.14680G>C chr17 7518264 7518265 TP53_g.14068C>G - X54156.1(TP53):g.14068C>G chr17 7517864 7517866 TP53_g.14466_14467del - X54156.1(TP53):g.14466_14467del chr17 7519206 7519207 TP53_g.13127A>C - X54156.1(TP53):g.13127A>C chr17 7518272 7518274 TP53_g.14059_14060delinsAT - X54156.1(TP53):g.14059_14060delinsAT chr17 7519015 7519016 TP53_g.13318A>C - X54156.1(TP53):g.13318A>C chr17 7520143 7520145 TP53_g.12191_12192ins1 - X54156.1(TP53):g.12191_12192ins1 chr17 7518966 7518968 TP53_g.13366_13367ins1 - X54156.1(TP53):g.13366_13367ins1 chr17 7518306 7518307 TP53_g.14026C>T - X54156.1(TP53):g.14026C>T chr17 7519180 7519195 TP53_g.13139_13153del - X54156.1(TP53):g.13139_13153del chr17 7519251 7519253 TP53_g.13081_13082ins19 - X54156.1(TP53):g.13081_13082ins19 chr17 7518999 7519001 TP53_g.13333_13334ins20 - X54156.1(TP53):g.13333_13334ins20 chr17 7517743 7517744 TP53_g.14588G>T - X54156.1(TP53):g.14588G>T chr17 7520134 7520186 TP53_g.12150_12201del - X54156.1(TP53):g.12150_12201del chr17 7519217 7519218 TP53_g.13116G>T - X54156.1(TP53):g.13116G>T chr17 7518230 7518231 TP53_g.14102G>C - X54156.1(TP53):g.14102G>C chr17 7518316 7518318 TP53_g.14015_14016ins1 - X54156.1(TP53):g.14015_14016ins1 chr17 7518900 7518901 TP53_g.13433G>C - X54156.1(TP53):g.13433G>C chr17 7517575 7517576 TP53_g.14756T>C - X54156.1(TP53):g.14756T>C chr17 7514720 7514721 TP53_g.17609T>C - X54156.1(TP53):g.17609T>C chr17 7520160 7520161 TP53_g.12175C>G - X54156.1(TP53):g.12175C>G chr17 7517787 7517788 TP53_g.14544A>C - X54156.1(TP53):g.14544A>C chr17 7519002 7519004 TP53_g.13330_13331ins1 - X54156.1(TP53):g.13330_13331ins1 chr17 7517587 7517589 TP53_g.14743_14744ins1 - X54156.1(TP53):g.14743_14744ins1 chr17 7519116 7519134 TP53_g.13200_13217del - X54156.1(TP53):g.13200_13217del chr17 7520037 7520095 TP53_g.12241_12298del - X54156.1(TP53):g.12241_12298del chr17 7520236 7520237 TP53_g.12099G>T - X54156.1(TP53):g.12099G>T chr17 7518304 7518312 TP53_g.14021_14028del - X54156.1(TP53):g.14021_14028del chr17 7519951 7520176 TP53_g.12160_12384del - X54156.1(TP53):g.12160_12384del chr17 7520050 7520061 TP53_g.12275_12285del - X54156.1(TP53):g.12275_12285del chr17 7518250 7518268 TP53_g.14065_14082del - X54156.1(TP53):g.14065_14082del chr17 7517810 7517811 TP53_g.14521del - X54156.1(TP53):g.14521del chr17 7518288 7518289 TP53_g.14044del - X54156.1(TP53):g.14044del chr17 7519206 7519208 TP53_g.13126_13127ins1 - X54156.1(TP53):g.13126_13127ins1 chr17 7517856 7517857 TP53_g.14475G>T - X54156.1(TP53):g.14475G>T chr17 7517604 7517619 TP53_g.14713_14727del - X54156.1(TP53):g.14713_14727del chr17 7520586 7520589 TP53_g.11765_11767del - X54156.1(TP53):g.11765_11767del chr17 7520577 7520584 TP53_g.11770_11776del - X54156.1(TP53):g.11770_11776del chr17 7518341 7518342 TP53_g.13991A>G - X54156.1(TP53):g.13991A>G chr17 7519170 7519172 TP53_g.13162_13163ins1 - X54156.1(TP53):g.13162_13163ins1 chr17 7518314 7518315 TP53_g.14018A>G - X54156.1(TP53):g.14018A>G chr17 7514677 7514678 TP53_g.17652G>T - X54156.1(TP53):g.17652G>T chr17 7519138 7519146 TP53_g.13188_13195del - X54156.1(TP53):g.13188_13195del chr17 7520254 7520262 TP53_g.12074_12081del - X54156.1(TP53):g.12074_12081del chr17 7519259 7519262 TP53_g.13072_13074del - X54156.1(TP53):g.13072_13074del chr17 7517624 7517625 TP53_g.14707del - X54156.1(TP53):g.14707del chr17 7518227 7518228 TP53_g.14105delinsGC - X54156.1(TP53):g.14105delinsGC chr17 7517745 7517746 TP53_g.14586G>A - X54156.1(TP53):g.14586G>A chr17 7517600 7517603 TP53_g.14729_14731del - X54156.1(TP53):g.14729_14731del chr17 7517592 7517598 TP53_g.14734_14739del - X54156.1(TP53):g.14734_14739del chr17 7517789 7517816 TP53_g.14516_14542del - X54156.1(TP53):g.14516_14542del chr17 7520143 7520159 TP53_g.12177_12192del - X54156.1(TP53):g.12177_12192del chr17 7520155 7520157 TP53_g.12179_12180ins4 - X54156.1(TP53):g.12179_12180ins4 chr17 7519007 7519009 TP53_g.13325_13326del - X54156.1(TP53):g.13325_13326del chr17 7517603 7517628 TP53_g.14704_14728del - X54156.1(TP53):g.14704_14728del chr17 7519189 7519191 TP53_g.13143_13144ins1 - X54156.1(TP53):g.13143_13144ins1 chr17 7517835 7517843 TP53_g.14489_14496del - X54156.1(TP53):g.14489_14496del chr17 7518981 7518982 TP53_g.13352G>C - X54156.1(TP53):g.13352G>C chr17 7518909 7518910 TP53_g.13424C>G - X54156.1(TP53):g.13424C>G chr17 7518926 7518928 TP53_g.13406_13407delinsTG - X54156.1(TP53):g.13406_13407delinsTG chr17 7517775 7517776 TP53_g.14556A>C - X54156.1(TP53):g.14556A>C chr17 7517827 7517829 TP53_g.14503_14504ins1 - X54156.1(TP53):g.14503_14504ins1 chr17 7519148 7519149 TP53_g.13185T>A - X54156.1(TP53):g.13185T>A chr17 7518960 7518961 TP53_g.13373T>A - X54156.1(TP53):g.13373T>A chr17 7517808 7517809 TP53_g.14523A>G - X54156.1(TP53):g.14523A>G chr17 7517851 7517853 TP53_g.14479_14480ins2 - X54156.1(TP53):g.14479_14480ins2 chr17 7519233 7519243 TP53_g.13091_13100del - X54156.1(TP53):g.13091_13100del chr17 7517854 7517858 TP53_g.14474_14477del - X54156.1(TP53):g.14474_14477del chr17 7519266 7519267 TP53_g.13067C>A - X54156.1(TP53):g.13067C>A chr17 7518307 7518318 TP53_g.14015_14025del - X54156.1(TP53):g.14015_14025del chr17 7518245 7518249 TP53_g.14084_14087del - X54156.1(TP53):g.14084_14087del chr17 7518228 7518229 TP53_g.14104C>A - X54156.1(TP53):g.14104C>A chr17 7518227 7518234 TP53_g.14099_14105del - X54156.1(TP53):g.14099_14105del chr17 7517809 7517810 TP53_g.14522del - X54156.1(TP53):g.14522del chr17 7519261 7519279 TP53_g.13055_13072del - X54156.1(TP53):g.13055_13072del chr17 7517871 7517872 TP53_g.14460T>C - X54156.1(TP53):g.14460T>C chr17 7517636 7517637 TP53_g.14695del - X54156.1(TP53):g.14695del chr17 7518282 7518285 TP53_g.14048_14050del - X54156.1(TP53):g.14048_14050del chr17 7518884 7518885 TP53_g.13449G>T - X54156.1(TP53):g.13449G>T chr17 7519183 7519186 TP53_g.13148_13150del - X54156.1(TP53):g.13148_13150del chr17 7518261 7518263 TP53_g.14070_14071delinsTT - X54156.1(TP53):g.14070_14071delinsTT chr17 7517623 7517624 TP53_g.14708C>T - X54156.1(TP53):g.14708C>T chr17 7519120 7519123 TP53_g.13211_13213del - X54156.1(TP53):g.13211_13213del chr17 7518222 7518223 TP53_g.14110G>C - X54156.1(TP53):g.14110G>C chr17 7519113 7519132 TP53_g.13202_13220del - X54156.1(TP53):g.13202_13220del chr17 7519215 7519237 TP53_g.13097_13118del - X54156.1(TP53):g.13097_13118del chr17 7518241 7518252 TP53_g.14081_14091del - X54156.1(TP53):g.14081_14091del chr17 7520269 7520270 TP53_g.12066del - X54156.1(TP53):g.12066del chr17 7520143 7520144 TP53_g.12192del - X54156.1(TP53):g.12192del chr17 7519122 7519123 TP53_g.13211C>A - X54156.1(TP53):g.13211C>A chr17 7517747 7517748 TP53_g.14584G>T - X54156.1(TP53):g.14584G>T chr17 7520622 7520623 TP53_g.11731G>T - X54156.1(TP53):g.11731G>T chr17 7514651 7514758 TP53_g.17572_17678del - X54156.1(TP53):g.17572_17678del chr17 7513707 7513708 TP53_g.18624T>A - X54156.1(TP53):g.18624T>A chr17 7517633 7517652 TP53_g.14680_14698del - X54156.1(TP53):g.14680_14698del chr17 7520297 7520316 TP53_g.12020_12038del - X54156.1(TP53):g.12020_12038del chr17 7520214 7520215 TP53_g.12121T>G - X54156.1(TP53):g.12121T>G chr17 7518971 7518972 TP53_g.13362T>C - X54156.1(TP53):g.13362T>C chr17 7520232 7520602 TP53_g.11752_12103del - X54156.1(TP53):g.11752_12103del chr17 7520308 7520309 TP53_g.12027del - X54156.1(TP53):g.12027del chr17 7520164 7520166 TP53_g.12170_12171ins76 - X54156.1(TP53):g.12170_12171ins76 chr17 7519176 7519179 TP53_g.13155_13157del - X54156.1(TP53):g.13155_13157del chr17 7518233 7518235 TP53_g.14098_14099ins1 - X54156.1(TP53):g.14098_14099ins1 chr17 7518327 7518328 TP53_g.14005C>A - X54156.1(TP53):g.14005C>A chr17 7519184 7519186 TP53_g.13148_13149ins4 - X54156.1(TP53):g.13148_13149ins4 chr17 7517753 7517779 TP53_g.14553_14578del - X54156.1(TP53):g.14553_14578del chr17 7517748 7517774 TP53_g.14558_14583del - X54156.1(TP53):g.14558_14583del chr17 7519199 7519201 TP53_g.13133_13134delinsT - X54156.1(TP53):g.13133_13134delinsT chr17 7517773 7517792 TP53_g.14540_14558del - X54156.1(TP53):g.14540_14558del chr17 7519119 7519121 TP53_g.13213_13214delinsTT - X54156.1(TP53):g.13213_13214delinsTT chr17 7517756 7517757 TP53_g.14575G>C - X54156.1(TP53):g.14575G>C chr17 7518303 7518306 TP53_g.14027_14029delinsAAA - X54156.1(TP53):g.14027_14029delinsAAA chr17 7520267 7520268 TP53_g.12068C>T - X54156.1(TP53):g.12068C>T chr17 7518231 7518234 TP53_g.14099_14101del - X54156.1(TP53):g.14099_14101del chr17 7517799 7517800 TP53_g.14532A>G - X54156.1(TP53):g.14532A>G chr17 7517791 7517792 TP53_g.14540A>G - X54156.1(TP53):g.14540A>G chr17 7518303 7518304 TP53_g.14029C>G - X54156.1(TP53):g.14029C>G chr17 7518952 7518953 TP53_g.13381T>C - X54156.1(TP53):g.13381T>C chr17 7518954 7518955 TP53_g.13379G>C - X54156.1(TP53):g.13379G>C chr17 7519176 7519177 TP53_g.13157A>T - X54156.1(TP53):g.13157A>T chr17 7518249 7518250 TP53_g.14083C>T - X54156.1(TP53):g.14083C>T chr17 7520037 7520038 TP53_g.12298C>A - X54156.1(TP53):g.12298C>A chr17 7520225 7520226 TP53_g.12110A>G - X54156.1(TP53):g.12110A>G chr17 7520249 7520250 TP53_g.12086C>T - X54156.1(TP53):g.12086C>T chr17 7518328 7518329 TP53_g.14004G>C - X54156.1(TP53):g.14004G>C chr17 7520166 7520167 TP53_g.12169C>T - X54156.1(TP53):g.12169C>T chr17 7518288 7518291 TP53_g.14042_14044delinsT - X54156.1(TP53):g.14042_14044delinsT chr17 7520070 7520073 TP53_g.12263_12265del - X54156.1(TP53):g.12263_12265del chr17 7519015 7519016 TP53_g.13318A>G - X54156.1(TP53):g.13318A>G chr17 7519100 7519101 TP53_g.13233G>A - X54156.1(TP53):g.13233G>A chr17 7517799 7517807 TP53_g.14525_14532del - X54156.1(TP53):g.14525_14532del chr17 7519122 7519153 TP53_g.13181_13211del - X54156.1(TP53):g.13181_13211del chr17 7513692 7513693 TP53_g.18639del - X54156.1(TP53):g.18639del chr17 7519179 7519186 TP53_g.13148_13154del - X54156.1(TP53):g.13148_13154del chr17 7518279 7518297 TP53_g.14036_14053del - X54156.1(TP53):g.14036_14053del chr17 7519233 7519234 TP53_g.13100del - X54156.1(TP53):g.13100del chr17 7519184 7519189 TP53_g.13145_13149del - X54156.1(TP53):g.13145_13149del chr17 7520086 7520144 TP53_g.12192_12249del - X54156.1(TP53):g.12192_12249del chr17 7518220 7518221 TP53_g.14112C>G - X54156.1(TP53):g.14112C>G chr17 7520306 7520307 TP53_g.12029G>C - X54156.1(TP53):g.12029G>C chr17 7519141 7519142 TP53_g.13192G>C - X54156.1(TP53):g.13192G>C chr17 7517855 7517873 TP53_g.14459_14476del - X54156.1(TP53):g.14459_14476del chr17 7517804 7517805 TP53_g.14527A>C - X54156.1(TP53):g.14527A>C chr17 7519006 7519007 TP53_g.13327C>T - X54156.1(TP53):g.13327C>T chr17 7518990 7518991 TP53_g.13343del - X54156.1(TP53):g.13343del chr17 7517786 7517787 TP53_g.14545A>T - X54156.1(TP53):g.14545A>T chr17 7519139 7519140 TP53_g.13194T>G - X54156.1(TP53):g.13194T>G chr17 7517581 7517582 TP53_g.14750T>A - X54156.1(TP53):g.14750T>A chr17 7517598 7517599 TP53_g.14733T>G - X54156.1(TP53):g.14733T>G chr17 7518251 7518270 TP53_g.14063_14081del - X54156.1(TP53):g.14063_14081del chr17 7514701 7514716 TP53_g.17614_17628del - X54156.1(TP53):g.17614_17628del chr17 7519006 7519016 TP53_g.13318_13327del - X54156.1(TP53):g.13318_13327del chr17 7520244 7520245 TP53_g.12091A>T - X54156.1(TP53):g.12091A>T chr17 7520181 7520192 TP53_g.12144_12154del - X54156.1(TP53):g.12144_12154del chr17 7520057 7520058 TP53_g.12278A>G - X54156.1(TP53):g.12278A>G chr17 7519093 7519094 TP53_g.13240T>G - X54156.1(TP53):g.13240T>G chr17 7519091 7519092 TP53_g.13242A>T - X54156.1(TP53):g.13242A>T chr17 7517602 7517634 TP53_g.14698_14729del - X54156.1(TP53):g.14698_14729del chr17 7518973 7518974 TP53_g.13360T>A - X54156.1(TP53):g.13360T>A chr17 7518265 7518266 TP53_g.14067A>G - X54156.1(TP53):g.14067A>G chr17 7518277 7518278 TP53_g.14055T>G - X54156.1(TP53):g.14055T>G chr17 7517801 7517802 TP53_g.14530G>T - X54156.1(TP53):g.14530G>T chr17 7517804 7517805 TP53_g.14527A>G - X54156.1(TP53):g.14527A>G chr17 7518227 7518228 TP53_g.14105T>C - X54156.1(TP53):g.14105T>C chr17 7519192 7519225 TP53_g.13109_13141del - X54156.1(TP53):g.13109_13141del chr17 7517848 7517850 TP53_g.14482_14483ins1 - X54156.1(TP53):g.14482_14483ins1 chr17 7517851 7517853 TP53_g.14479_14480ins1 - X54156.1(TP53):g.14479_14480ins1 chr17 7518271 7518273 TP53_g.14060_14061delinsTT - X54156.1(TP53):g.14060_14061delinsTT chr17 7518264 7518266 TP53_g.14067_14068delinsTA - X54156.1(TP53):g.14067_14068delinsTA chr17 7518328 7518329 TP53_g.14004G>A - X54156.1(TP53):g.14004G>A chr17 7517796 7517811 TP53_g.14521_14535del - X54156.1(TP53):g.14521_14535del chr17 7517642 7517647 TP53_g.14685_14689del - X54156.1(TP53):g.14685_14689del chr17 7520209 7520210 TP53_g.12126G>T - X54156.1(TP53):g.12126G>T chr17 7518952 7518954 TP53_g.13380_13381ins1 - X54156.1(TP53):g.13380_13381ins1 chr17 7518924 7518951 TP53_g.13383_13409del - X54156.1(TP53):g.13383_13409del chr17 7517805 7517806 TP53_g.14526A>T - X54156.1(TP53):g.14526A>T chr17 7520035 7520036 TP53_g.12300G>C - X54156.1(TP53):g.12300G>C chr17 7520226 7520243 TP53_g.12093_12109del - X54156.1(TP53):g.12093_12109del chr17 7518913 7518928 TP53_g.13406_13420del - X54156.1(TP53):g.13406_13420del chr17 7520264 7520276 TP53_g.12060_12071del - X54156.1(TP53):g.12060_12071del chr17 7517861 7517863 TP53_g.14469_14470delinsAT - X54156.1(TP53):g.14469_14470delinsAT chr17 7519007 7519008 TP53_g.13326C>A - X54156.1(TP53):g.13326C>A chr17 7519259 7519261 TP53_g.13073_13074delinsTT - X54156.1(TP53):g.13073_13074delinsTT chr17 7519257 7519258 TP53_g.13076A>T - X54156.1(TP53):g.13076A>T chr17 7518315 7518316 TP53_g.14017C>T - X54156.1(TP53):g.14017C>T chr17 7518249 7518250 TP53_g.14083C>A - X54156.1(TP53):g.14083C>A chr17 7519178 7519180 TP53_g.13154_13155delinsAG - X54156.1(TP53):g.13154_13155delinsAG chr17 7519103 7519104 TP53_g.13230A>T - X54156.1(TP53):g.13230A>T chr17 7520433 7520440 TP53_g.11912_11918delinsAG - X54156.1(TP53):g.11912_11918delinsAG chr17 7517791 7517792 TP53_g.14540A>T - X54156.1(TP53):g.14540A>T chr17 7517648 7517649 TP53_g.14683C>A - X54156.1(TP53):g.14683C>A chr17 7517603 7517604 TP53_g.14728C>A - X54156.1(TP53):g.14728C>A chr17 7518917 7518927 TP53_g.13407_13416del - X54156.1(TP53):g.13407_13416del chr17 7518332 7518333 TP53_g.14000del - X54156.1(TP53):g.14000del chr17 7514652 7514653 TP53_g.17677del - X54156.1(TP53):g.17677del chr17 7517629 7517630 TP53_g.14702C>T - X54156.1(TP53):g.14702C>T chr17 7519170 7519190 TP53_g.13144_13163del - X54156.1(TP53):g.13144_13163del chr17 7520080 7520081 TP53_g.12255C>A - X54156.1(TP53):g.12255C>A chr17 7517867 7517868 TP53_g.14464G>A - X54156.1(TP53):g.14464G>A chr17 7518297 7518298 TP53_g.14035C>T - X54156.1(TP53):g.14035C>T chr17 7518285 7518286 TP53_g.14047T>C - X54156.1(TP53):g.14047T>C chr17 7519246 7519247 TP53_g.13087del - X54156.1(TP53):g.13087del chr17 7520308 7520310 TP53_g.12026_12027ins1 - X54156.1(TP53):g.12026_12027ins1 chr17 7520072 7520074 TP53_g.12262_12263delinsGT - X54156.1(TP53):g.12262_12263delinsGT chr17 7518990 7518992 TP53_g.13342_13343ins1 - X54156.1(TP53):g.13342_13343ins1 chr17 7518326 7518328 TP53_g.14005_14006ins37 - X54156.1(TP53):g.14005_14006ins37 chr17 7517844 7517846 TP53_g.14486_14487delinsAA - X54156.1(TP53):g.14486_14487delinsAA chr17 7517749 7517750 TP53_g.14582del - X54156.1(TP53):g.14582del chr17 7518948 7518949 TP53_g.13385A>C - X54156.1(TP53):g.13385A>C chr17 7519134 7519136 TP53_g.13198_13199ins1 - X54156.1(TP53):g.13198_13199ins1 chr17 7519174 7519175 TP53_g.13159G>T - X54156.1(TP53):g.13159G>T chr17 7517785 7517786 TP53_g.14546del - X54156.1(TP53):g.14546del chr17 7517848 7517849 TP53_g.14483del - X54156.1(TP53):g.14483del chr17 7519011 7519012 TP53_g.13322del - X54156.1(TP53):g.13322del chr17 7518943 7518964 TP53_g.13370_13390del - X54156.1(TP53):g.13370_13390del chr17 7517857 7517858 TP53_g.14474A>G - X54156.1(TP53):g.14474A>G chr17 7520160 7520168 TP53_g.12168_12175del - X54156.1(TP53):g.12168_12175del chr17 7517857 7517861 TP53_g.14471_14474del - X54156.1(TP53):g.14471_14474del chr17 7518316 7518317 TP53_g.14016del - X54156.1(TP53):g.14016del chr17 7520444 7520445 TP53_g.11907del - X54156.1(TP53):g.11907del chr17 7518997 7518998 TP53_g.13336G>A - X54156.1(TP53):g.13336G>A chr17 7518270 7518271 TP53_g.14062C>G - X54156.1(TP53):g.14062C>G chr17 7517864 7517865 TP53_g.14467A>G - X54156.1(TP53):g.14467A>G chr17 7517765 7517766 TP53_g.14566G>C - X54156.1(TP53):g.14566G>C chr17 7518301 7518302 TP53_g.14031A>C - X54156.1(TP53):g.14031A>C chr17 7517816 7517817 TP53_g.14515G>T - X54156.1(TP53):g.14515G>T chr17 7517787 7517789 TP53_g.14543_14544delinsGG - X54156.1(TP53):g.14543_14544delinsGG chr17 7517783 7517784 TP53_g.14548G>T - X54156.1(TP53):g.14548G>T chr17 7517768 7517769 TP53_g.14563G>T - X54156.1(TP53):g.14563G>T chr17 7517839 7517840 TP53_g.14492T>A - X54156.1(TP53):g.14492T>A chr17 7519241 7519242 TP53_g.13092C>A - X54156.1(TP53):g.13092C>A chr17 7519203 7519213 TP53_g.13121_13130del - X54156.1(TP53):g.13121_13130del chr17 7520423 7520424 TP53_g.11928G>T - X54156.1(TP53):g.11928G>T chr17 7518981 7518982 TP53_g.13352del - X54156.1(TP53):g.13352del chr17 7517790 7517791 TP53_g.14541A>C - X54156.1(TP53):g.14541A>C chr17 7519245 7519246 TP53_g.13088C>A - X54156.1(TP53):g.13088C>A chr17 7518269 7518270 TP53_g.14063A>C - X54156.1(TP53):g.14063A>C chr17 7517845 7517846 TP53_g.14486del - X54156.1(TP53):g.14486del chr17 7519143 7519145 TP53_g.13189_13190ins1 - X54156.1(TP53):g.13189_13190ins1 chr17 7517651 7517652 TP53_g.14680G>T - X54156.1(TP53):g.14680G>T chr17 7520041 7520042 TP53_g.12294T>A - X54156.1(TP53):g.12294T>A chr17 7518265 7518266 TP53_g.14067A>T - X54156.1(TP53):g.14067A>T chr17 7520221 7520222 TP53_g.12114del - X54156.1(TP53):g.12114del chr17 7519007 7519008 TP53_g.13326del - X54156.1(TP53):g.13326del chr17 7519275 7519276 TP53_g.13058T>A - X54156.1(TP53):g.13058T>A chr17 7518263 7518267 TP53_g.14066_14069del - X54156.1(TP53):g.14066_14069del chr17 7519250 7519261 TP53_g.13073_13083del - X54156.1(TP53):g.13073_13083del chr17 7514751 7514752 TP53_g.17578G>T - X54156.1(TP53):g.17578G>T chr17 7517804 7517813 TP53_g.14519_14527del - X54156.1(TP53):g.14519_14527del chr17 7519210 7519213 TP53_g.13121_13123delinsGG - X54156.1(TP53):g.13121_13123delinsGG chr17 7518258 7518260 TP53_g.14073_14074delinsAT - X54156.1(TP53):g.14073_14074delinsAT chr17 7520050 7520051 TP53_g.12285del - X54156.1(TP53):g.12285del chr17 7520052 7520053 TP53_g.12283A>G - X54156.1(TP53):g.12283A>G chr17 7514747 7514748 TP53_g.17582G>A - X54156.1(TP53):g.17582G>A chr17 7520275 7520277 TP53_g.12059_12060ins16 - X54156.1(TP53):g.12059_12060ins16 chr17 7519102 7519120 TP53_g.13214_13231del - X54156.1(TP53):g.13214_13231del chr17 7517749 7517751 TP53_g.14581_14582ins23 - X54156.1(TP53):g.14581_14582ins23 chr17 7514730 7514731 TP53_g.17599del - X54156.1(TP53):g.17599del chr17 7519178 7519180 TP53_g.13154_13155del - X54156.1(TP53):g.13154_13155del chr17 7517841 7517843 TP53_g.14489_14490del - X54156.1(TP53):g.14489_14490del chr17 7520231 7520232 TP53_g.12104A>T - X54156.1(TP53):g.12104A>T chr17 7519208 7519210 TP53_g.13124_13125del - X54156.1(TP53):g.13124_13125del chr17 7519153 7519166 TP53_g.13168_13180del - X54156.1(TP53):g.13168_13180del chr17 7520056 7520075 TP53_g.12261_12279del - X54156.1(TP53):g.12261_12279del chr17 7519232 7519237 TP53_g.13097_13101del - X54156.1(TP53):g.13097_13101del chr17 7518954 7518955 TP53_g.13379del - X54156.1(TP53):g.13379del chr17 7519224 7519225 TP53_g.13109C>A - X54156.1(TP53):g.13109C>A chr17 7513729 7513730 TP53_g.18602del - X54156.1(TP53):g.18602del chr17 7518939 7518941 TP53_g.13393_13394ins36 - X54156.1(TP53):g.13393_13394ins36 chr17 7517770 7517772 TP53_g.14560_14561ins17 - X54156.1(TP53):g.14560_14561ins17 chr17 7520049 7520050 TP53_g.12286del - X54156.1(TP53):g.12286del chr17 7520609 7520610 TP53_g.11744G>A - X54156.1(TP53):g.11744G>A chr17 7520429 7520430 TP53_g.11922G>A - X54156.1(TP53):g.11922G>A chr17 7514709 7514722 TP53_g.17608_17620del - X54156.1(TP53):g.17608_17620del chr17 7520590 7520591 TP53_g.11763A>T - X54156.1(TP53):g.11763A>T chr17 7517604 7517612 TP53_g.14720_14727del - X54156.1(TP53):g.14720_14727del chr17 7517613 7517617 TP53_g.14715_14718del - X54156.1(TP53):g.14715_14718del chr17 7517648 7517649 TP53_g.14683C>T - X54156.1(TP53):g.14683C>T chr17 7518326 7518327 TP53_g.14006T>C - X54156.1(TP53):g.14006T>C chr17 7517881 7517882 TP53_g.14450A>G - X54156.1(TP53):g.14450A>G chr17 7520271 7520273 TP53_g.12063_12064del - X54156.1(TP53):g.12063_12064del chr17 7519200 7519203 TP53_g.13131_13133del - X54156.1(TP53):g.13131_13133del chr17 7519171 7519189 TP53_g.13145_13162del - X54156.1(TP53):g.13145_13162del chr17 7519258 7519264 TP53_g.13070_13075del - X54156.1(TP53):g.13070_13075del chr17 7517743 7517744 TP53_g.14588G>C - X54156.1(TP53):g.14588G>C chr17 7517874 7517875 TP53_g.14457A>G - X54156.1(TP53):g.14457A>G chr17 7517771 7517774 TP53_g.14558_14560del - X54156.1(TP53):g.14558_14560del chr17 7518302 7518321 TP53_g.14012_14030del - X54156.1(TP53):g.14012_14030del chr17 7517873 7517879 TP53_g.14453_14458delinsCCTGAT - X54156.1(TP53):g.14453_14458delinsCCTGAT chr17 7519207 7519209 TP53_g.13125_13126delinsTT - X54156.1(TP53):g.13125_13126delinsTT chr17 7518233 7518234 TP53_g.14099del - X54156.1(TP53):g.14099del chr17 7519115 7519117 TP53_g.13217_13218ins1 - X54156.1(TP53):g.13217_13218ins1 chr17 7517722 7517723 TP53_g.14609G>A - X54156.1(TP53):g.14609G>A chr17 7517767 7517768 TP53_g.14564C>T - X54156.1(TP53):g.14564C>T chr17 7518987 7518988 TP53_g.13346C>G - X54156.1(TP53):g.13346C>G chr17 7518286 7518293 TP53_g.14040_14046del - X54156.1(TP53):g.14040_14046del chr17 7520273 7520274 TP53_g.12062C>T - X54156.1(TP53):g.12062C>T chr17 7518231 7518232 TP53_g.14101A>G - X54156.1(TP53):g.14101A>G chr17 7518261 7518267 TP53_g.14066_14071del - X54156.1(TP53):g.14066_14071del chr17 7518227 7518228 TP53_g.14105del - X54156.1(TP53):g.14105del chr17 7519205 7519206 TP53_g.13128C>A - X54156.1(TP53):g.13128C>A chr17 7518228 7518231 TP53_g.14102_14104delinsCCG - X54156.1(TP53):g.14102_14104delinsCCG chr17 7518912 7518913 TP53_g.13421G>A - X54156.1(TP53):g.13421G>A chr17 7519272 7519276 TP53_g.13058_13061del - X54156.1(TP53):g.13058_13061del chr17 7519167 7519174 TP53_g.13160_13166del - X54156.1(TP53):g.13160_13166del chr17 7518902 7518904 TP53_g.13430_13431ins5 - X54156.1(TP53):g.13430_13431ins5 chr17 7519239 7519241 TP53_g.13093_13094ins8 - X54156.1(TP53):g.13093_13094ins8 chr17 7519139 7519140 TP53_g.13194del - X54156.1(TP53):g.13194del chr17 7517613 7517630 TP53_g.14702_14718del - X54156.1(TP53):g.14702_14718del chr17 7519028 7519029 TP53_g.13305A>T - X54156.1(TP53):g.13305A>T chr17 7517853 7517855 TP53_g.14477_14478del - X54156.1(TP53):g.14477_14478del chr17 7517620 7517621 TP53_g.14711A>T - X54156.1(TP53):g.14711A>T chr17 7517761 7517762 TP53_g.14570C>T - X54156.1(TP53):g.14570C>T chr17 7518948 7518952 TP53_g.13382_13385del - X54156.1(TP53):g.13382_13385del chr17 7518957 7518959 TP53_g.13375_13376ins1 - X54156.1(TP53):g.13375_13376ins1 chr17 7518981 7518994 TP53_g.13340_13352del - X54156.1(TP53):g.13340_13352del chr17 7518972 7518974 TP53_g.13360_13361ins1 - X54156.1(TP53):g.13360_13361ins1 chr17 7518333 7518334 TP53_g.13999G>C - X54156.1(TP53):g.13999G>C chr17 7518297 7518312 TP53_g.14021_14035del - X54156.1(TP53):g.14021_14035del chr17 7518925 7518955 TP53_g.13379_13408del - X54156.1(TP53):g.13379_13408del chr17 7519302 7519304 TP53_g.13030_13031ins1 - X54156.1(TP53):g.13030_13031ins1 chr17 7518924 7518926 TP53_g.13408_13409ins1 - X54156.1(TP53):g.13408_13409ins1 chr17 7520205 7520206 TP53_g.12130C>G - X54156.1(TP53):g.12130C>G chr17 7520134 7520135 TP53_g.12201C>A - X54156.1(TP53):g.12201C>A chr17 7520053 7520054 TP53_g.12282A>T - X54156.1(TP53):g.12282A>T chr17 7517855 7517879 TP53_g.14453_14476del - X54156.1(TP53):g.14453_14476del chr17 7517881 7517886 TP53_g.14446_14450del - X54156.1(TP53):g.14446_14450del chr17 7519171 7519192 TP53_g.13142_13162del - X54156.1(TP53):g.13142_13162del chr17 7519159 7519168 TP53_g.13166_13174del - X54156.1(TP53):g.13166_13174del chr17 7519133 7519134 TP53_g.13200G>T - X54156.1(TP53):g.13200G>T chr17 7520142 7520159 TP53_g.12177_12193del - X54156.1(TP53):g.12177_12193del chr17 7517856 7517879 TP53_g.14453_14475del - X54156.1(TP53):g.14453_14475del chr17 7519998 7520198 TP53_g.12138_12337del - X54156.1(TP53):g.12138_12337del chr17 7514707 7514708 TP53_g.17622G>T - X54156.1(TP53):g.17622G>T chr17 7518224 7518226 TP53_g.14107_14108ins3 - X54156.1(TP53):g.14107_14108ins3 chr17 7518311 7518312 TP53_g.14021del - X54156.1(TP53):g.14021del chr17 7519146 7519148 TP53_g.13186_13187ins3 - X54156.1(TP53):g.13186_13187ins3 chr17 7517731 7517744 TP53_g.14588_14600del - X54156.1(TP53):g.14588_14600del chr17 7520212 7520213 TP53_g.12123del - X54156.1(TP53):g.12123del chr17 7518242 7518243 TP53_g.14090del - X54156.1(TP53):g.14090del chr17 7520306 7520307 TP53_g.12029G>T - X54156.1(TP53):g.12029G>T chr17 7517773 7517774 TP53_g.14558C>A - X54156.1(TP53):g.14558C>A chr17 7518486 7518487 TP53_g.13846G>T - X54156.1(TP53):g.13846G>T chr17 7518199 7518200 TP53_g.14133C>A - X54156.1(TP53):g.14133C>A chr17 7519191 7519193 TP53_g.13141_13142ins1 - X54156.1(TP53):g.13141_13142ins1 chr17 7518264 7518265 TP53_g.14068C>A - X54156.1(TP53):g.14068C>A chr17 7519153 7519180 TP53_g.13154_13180del - X54156.1(TP53):g.13154_13180del chr17 7519173 7519175 TP53_g.13159_13160ins2 - X54156.1(TP53):g.13159_13160ins2 chr17 7519091 7519096 TP53_g.13238_13242del - X54156.1(TP53):g.13238_13242del chr17 7519273 7519274 TP53_g.13060C>G - X54156.1(TP53):g.13060C>G chr17 7519186 7519187 TP53_g.13147C>T - X54156.1(TP53):g.13147C>T chr17 7518906 7518907 TP53_g.13427C>A - X54156.1(TP53):g.13427C>A chr17 7517812 7517813 TP53_g.14519del - X54156.1(TP53):g.14519del chr17 7518995 7518997 TP53_g.13337_13338ins1 - X54156.1(TP53):g.13337_13338ins1 chr17 7519144 7519146 TP53_g.13188_13189ins1 - X54156.1(TP53):g.13188_13189ins1 chr17 7518265 7518266 TP53_g.14067del - X54156.1(TP53):g.14067del chr17 7519153 7519155 TP53_g.13179_13180ins1 - X54156.1(TP53):g.13179_13180ins1 chr17 7519141 7519143 TP53_g.13191_13192delinsTC - X54156.1(TP53):g.13191_13192delinsTC chr17 7519150 7519156 TP53_g.13178_13183delinsTACCTC - X54156.1(TP53):g.13178_13183delinsTACCTC chr17 7518309 7518311 TP53_g.14022_14023ins1 - X54156.1(TP53):g.14022_14023ins1 chr17 7519108 7519114 TP53_g.13220_13225delinsTGCTGT - X54156.1(TP53):g.13220_13225delinsTGCTGT chr17 7519147 7519152 TP53_g.13182_13186delinsTCATT - X54156.1(TP53):g.13182_13186delinsTCATT chr17 7518943 7518944 TP53_g.13390C>G - X54156.1(TP53):g.13390C>G chr17 7518961 7518967 TP53_g.13367_13372delinsCTGGTG - X54156.1(TP53):g.13367_13372delinsCTGGTG chr17 7520131 7520154 TP53_g.12182_12204del - X54156.1(TP53):g.12182_12204del chr17 7519006 7519014 TP53_g.13320_13327delins19 - X54156.1(TP53):g.13320_13327delins19 chr17 7520205 7520206 TP53_g.12130del - X54156.1(TP53):g.12130del chr17 7517622 7517623 TP53_g.14709C>A - X54156.1(TP53):g.14709C>A chr17 7519189 7519191 TP53_g.13143_13144delinsTG - X54156.1(TP53):g.13143_13144delinsTG chr17 7519171 7519174 TP53_g.13160_13162delinsACT - X54156.1(TP53):g.13160_13162delinsACT chr17 7519143 7519145 TP53_g.13189_13190delinsTT - X54156.1(TP53):g.13189_13190delinsTT chr17 7519265 7519293 TP53_g.13041_13068del - X54156.1(TP53):g.13041_13068del chr17 7519174 7519186 TP53_g.13148_13159del - X54156.1(TP53):g.13148_13159del chr17 7517836 7517838 TP53_g.14494_14495ins30 - X54156.1(TP53):g.14494_14495ins30 chr17 7518964 7518965 TP53_g.13369G>T - X54156.1(TP53):g.13369G>T chr17 7520315 7520316 TP53_g.12020G>C - X54156.1(TP53):g.12020G>C chr17 7518243 7518244 TP53_g.14089C>T - X54156.1(TP53):g.14089C>T chr17 7519179 7519189 TP53_g.13145_13154del - X54156.1(TP53):g.13145_13154del chr17 7519151 7519153 TP53_g.13181_13182delinsGT - X54156.1(TP53):g.13181_13182delinsGT chr17 7518258 7518260 TP53_g.14073_14074delinsTT - X54156.1(TP53):g.14073_14074delinsTT chr17 7519005 7519006 TP53_g.13328del - X54156.1(TP53):g.13328del chr17 7518932 7518933 TP53_g.13401del - X54156.1(TP53):g.13401del chr17 7520037 7520054 TP53_g.12282_12298del - X54156.1(TP53):g.12282_12298del chr17 7517849 7517863 TP53_g.14469_14482del - X54156.1(TP53):g.14469_14482del chr17 7519281 7519282 TP53_g.13052C>T - X54156.1(TP53):g.13052C>T chr17 7517633 7517634 TP53_g.14698A>T - X54156.1(TP53):g.14698A>T chr17 7519080 7519107 TP53_g.13227_13253del - X54156.1(TP53):g.13227_13253del chr17 7517816 7517818 TP53_g.14514_14515delinsAT - X54156.1(TP53):g.14514_14515delinsAT chr17 7520158 7520159 TP53_g.12177del - X54156.1(TP53):g.12177del chr17 7519114 7519115 TP53_g.13219G>T - X54156.1(TP53):g.13219G>T chr17 7514758 7514759 TP53_g.17571G>C - X54156.1(TP53):g.17571G>C chr17 7517599 7517618 TP53_g.14714_14732del - X54156.1(TP53):g.14714_14732del chr17 7517827 7517829 TP53_g.14503_14504delinsA - X54156.1(TP53):g.14503_14504delinsA chr17 7518883 7518884 TP53_g.13450G>C - X54156.1(TP53):g.13450G>C chr17 7520086 7520087 TP53_g.12249del - X54156.1(TP53):g.12249del chr17 7518984 7518985 TP53_g.13349G>C - X54156.1(TP53):g.13349G>C chr17 7520195 7520197 TP53_g.12139_12140delinsT - X54156.1(TP53):g.12139_12140delinsT chr17 7519181 7519195 TP53_g.13139_13152del - X54156.1(TP53):g.13139_13152del chr17 7514706 7514707 TP53_g.17623del - X54156.1(TP53):g.17623del chr17 7517867 7517869 TP53_g.14463_14464delinsCT - X54156.1(TP53):g.14463_14464delinsCT chr17 7519122 7519124 TP53_g.13210_13211ins1 - X54156.1(TP53):g.13210_13211ins1 chr17 7518270 7518272 TP53_g.14061_14062delinsTT - X54156.1(TP53):g.14061_14062delinsTT chr17 7519182 7519192 TP53_g.13142_13151del - X54156.1(TP53):g.13142_13151del chr17 7518281 7518283 TP53_g.14050_14051ins1 - X54156.1(TP53):g.14050_14051ins1 chr17 7517875 7517876 TP53_g.14456A>C - X54156.1(TP53):g.14456A>C chr17 7519240 7519243 TP53_g.13091_13093del - X54156.1(TP53):g.13091_13093del chr17 7517842 7517843 TP53_g.14489del - X54156.1(TP53):g.14489del chr17 7519100 7519138 TP53_g.13196_13233del - X54156.1(TP53):g.13196_13233del chr17 7519119 7519129 TP53_g.13205_13214del - X54156.1(TP53):g.13205_13214del chr17 7519264 7519265 TP53_g.13069C>G - X54156.1(TP53):g.13069C>G chr17 7519263 7519264 TP53_g.13070A>G - X54156.1(TP53):g.13070A>G chr17 7517791 7517792 TP53_g.14540A>C - X54156.1(TP53):g.14540A>C chr17 7517757 7517758 TP53_g.14574G>C - X54156.1(TP53):g.14574G>C chr17 7517813 7517814 TP53_g.14518C>A - X54156.1(TP53):g.14518C>A chr17 7520198 7520219 TP53_g.12117_12137del - X54156.1(TP53):g.12117_12137del chr17 7518908 7518913 TP53_g.13421_13425del - X54156.1(TP53):g.13421_13425del chr17 7519185 7519189 TP53_g.13145_13148del - X54156.1(TP53):g.13145_13148del chr17 7518933 7518937 TP53_g.13397_13400del - X54156.1(TP53):g.13397_13400del chr17 7518243 7518255 TP53_g.14078_14089del - X54156.1(TP53):g.14078_14089del chr17 7518223 7518224 TP53_g.14109del - X54156.1(TP53):g.14109del chr17 7518298 7518299 TP53_g.14034A>T - X54156.1(TP53):g.14034A>T chr17 7519230 7519231 TP53_g.13103C>G - X54156.1(TP53):g.13103C>G chr17 7519005 7519007 TP53_g.13327_13328ins1 - X54156.1(TP53):g.13327_13328ins1 chr17 7517769 7517786 TP53_g.14546_14562del - X54156.1(TP53):g.14546_14562del chr17 7520102 7520103 TP53_g.12233C>G - X54156.1(TP53):g.12233C>G chr17 7519131 7519210 TP53_g.13124_13202del - X54156.1(TP53):g.13124_13202del chr17 7517767 7517768 TP53_g.14564del - X54156.1(TP53):g.14564del chr17 7517752 7517777 TP53_g.14555_14579del - X54156.1(TP53):g.14555_14579del chr17 7517862 7517863 TP53_g.14469del - X54156.1(TP53):g.14469del chr17 7513725 7513726 TP53_g.18606A>C - X54156.1(TP53):g.18606A>C chr17 7517613 7517614 TP53_g.14718G>T - X54156.1(TP53):g.14718G>T chr17 7519196 7519197 TP53_g.13137C>A - X54156.1(TP53):g.13137C>A chr17 7519148 7519150 TP53_g.13184_13185ins1 - X54156.1(TP53):g.13184_13185ins1 chr17 7517776 7517777 TP53_g.14555del - X54156.1(TP53):g.14555del chr17 7518965 7518967 TP53_g.13367_13368delinsTG - X54156.1(TP53):g.13367_13368delinsTG chr17 7520191 7520192 TP53_g.12144G>A - X54156.1(TP53):g.12144G>A chr17 7518913 7518922 TP53_g.13412_13420del - X54156.1(TP53):g.13412_13420del chr17 7517618 7517619 TP53_g.14713del - X54156.1(TP53):g.14713del chr17 7520043 7520044 TP53_g.12292C>A - X54156.1(TP53):g.12292C>A chr17 7517786 7517787 TP53_g.14545A>C - X54156.1(TP53):g.14545A>C chr17 7517782 7517783 TP53_g.14549G>C - X54156.1(TP53):g.14549G>C chr17 7518276 7518277 TP53_g.14056del - X54156.1(TP53):g.14056del chr17 7519011 7519012 TP53_g.13322C>T - X54156.1(TP53):g.13322C>T chr17 7514661 7514662 TP53_g.17668G>C - X54156.1(TP53):g.17668G>C chr17 7520239 7520240 TP53_g.12096C>A - X54156.1(TP53):g.12096C>A chr17 7520098 7520099 TP53_g.12237G>T - X54156.1(TP53):g.12237G>T chr17 7517830 7517832 TP53_g.14500_14501ins1 - X54156.1(TP53):g.14500_14501ins1 chr17 7518973 7518975 TP53_g.13359_13360ins1 - X54156.1(TP53):g.13359_13360ins1 chr17 7520090 7520093 TP53_g.12243_12245delinsCAA - X54156.1(TP53):g.12243_12245delinsCAA chr17 7520038 7520039 TP53_g.12297A>C - X54156.1(TP53):g.12297A>C chr17 7519014 7519015 TP53_g.13319del - X54156.1(TP53):g.13319del chr17 7519017 7519018 TP53_g.13316T>A - X54156.1(TP53):g.13316T>A chr17 7519192 7519193 TP53_g.13141C>A - X54156.1(TP53):g.13141C>A chr17 7519229 7519244 TP53_g.13090_13104del - X54156.1(TP53):g.13090_13104del chr17 7519282 7519284 TP53_g.13050_13051del - X54156.1(TP53):g.13050_13051del chr17 7519091 7519092 TP53_g.13242A>C - X54156.1(TP53):g.13242A>C chr17 7518219 7518225 TP53_g.14108_14113del - X54156.1(TP53):g.14108_14113del chr17 7519064 7519065 TP53_g.13269G>A - X54156.1(TP53):g.13269G>A chr17 7518235 7518236 TP53_g.14097del - X54156.1(TP53):g.14097del chr17 7517821 7517823 TP53_g.14509_14510ins4 - X54156.1(TP53):g.14509_14510ins4 chr17 7517783 7517784 TP53_g.14548del - X54156.1(TP53):g.14548del chr17 7518901 7518903 TP53_g.13431_13432ins1 - X54156.1(TP53):g.13431_13432ins1 chr17 7520098 7520099 TP53_g.12237G>C - X54156.1(TP53):g.12237G>C chr17 7520541 7520623 TP53_g.11731_11812del - X54156.1(TP53):g.11731_11812del chr17 7517845 7517847 TP53_g.14485_14486delinsTT - X54156.1(TP53):g.14485_14486delinsTT chr17 7519101 7519103 TP53_g.13231_13232ins4 - X54156.1(TP53):g.13231_13232ins4 chr17 7518221 7518222 TP53_g.14111T>G - X54156.1(TP53):g.14111T>G chr17 7519186 7519198 TP53_g.13136_13147del - X54156.1(TP53):g.13136_13147del chr17 7517746 7517748 TP53_g.14584_14585delinsTT - X54156.1(TP53):g.14584_14585delinsTT chr17 7519126 7519127 TP53_g.13207del - X54156.1(TP53):g.13207del chr17 7520149 7520150 TP53_g.12186G>A - X54156.1(TP53):g.12186G>A chr17 7518914 7518915 TP53_g.13419A>T - X54156.1(TP53):g.13419A>T chr17 7517804 7517806 TP53_g.14526_14527delinsGT - X54156.1(TP53):g.14526_14527delinsGT chr17 7514691 7514692 TP53_g.17638C>G - X54156.1(TP53):g.17638C>G chr17 7518918 7518920 TP53_g.13414_13415ins3 - X54156.1(TP53):g.13414_13415ins3 chr17 7520137 7520138 TP53_g.12198C>G - X54156.1(TP53):g.12198C>G chr17 7518256 7518258 TP53_g.14075_14076delinsAA - X54156.1(TP53):g.14075_14076delinsAA chr17 7518237 7518241 TP53_g.14092_14095del - X54156.1(TP53):g.14092_14095del chr17 7518907 7518919 TP53_g.13415_13426del - X54156.1(TP53):g.13415_13426del chr17 7520045 7520078 TP53_g.12258_12290del - X54156.1(TP53):g.12258_12290del chr17 7519225 7519226 TP53_g.13108G>T - X54156.1(TP53):g.13108G>T chr17 7519210 7519211 TP53_g.13123T>A - X54156.1(TP53):g.13123T>A chr17 7520192 7520198 TP53_g.12138_12143del - X54156.1(TP53):g.12138_12143del chr17 7517799 7517801 TP53_g.14531_14532del - X54156.1(TP53):g.14531_14532del chr17 7517787 7517788 TP53_g.14544A>T - X54156.1(TP53):g.14544A>T chr17 7517747 7517749 TP53_g.14583_14584delinsCT - X54156.1(TP53):g.14583_14584delinsCT chr17 7518988 7518997 TP53_g.13337_13345del - X54156.1(TP53):g.13337_13345del chr17 7518870 7518871 TP53_g.13463A>G - X54156.1(TP53):g.13463A>G chr17 7518990 7518991 TP53_g.13343A>C - X54156.1(TP53):g.13343A>C chr17 7520187 7520188 TP53_g.12148C>T - X54156.1(TP53):g.12148C>T chr17 7520033 7520034 TP53_g.12302C>T - X54156.1(TP53):g.12302C>T chr17 7520017 7520018 TP53_g.12318C>T - X54156.1(TP53):g.12318C>T chr17 7519173 7519175 TP53_g.13159_13160delinsCC - X54156.1(TP53):g.13159_13160delinsCC chr17 7520108 7520109 TP53_g.12227A>G - X54156.1(TP53):g.12227A>G chr17 7519264 7519266 TP53_g.13068_13069delinsCT - X54156.1(TP53):g.13068_13069delinsCT chr17 7519249 7519250 TP53_g.13084del - X54156.1(TP53):g.13084del chr17 7517646 7517647 TP53_g.14685G>T - X54156.1(TP53):g.14685G>T chr17 7517824 7517825 TP53_g.14507A>C - X54156.1(TP53):g.14507A>C chr17 7519205 7519207 TP53_g.13127_13128del - X54156.1(TP53):g.13127_13128del chr17 7518949 7518951 TP53_g.13383_13384delinsTT - X54156.1(TP53):g.13383_13384delinsTT chr17 7519215 7519217 TP53_g.13117_13118ins21 - X54156.1(TP53):g.13117_13118ins21 chr17 7519004 7519008 TP53_g.13326_13329delins1 - X54156.1(TP53):g.13326_13329delins1 chr17 7518278 7518279 TP53_g.14054A>G - X54156.1(TP53):g.14054A>G chr17 7519160 7519161 TP53_g.13173A>C - X54156.1(TP53):g.13173A>C chr17 7520243 7520244 TP53_g.12092A>G - X54156.1(TP53):g.12092A>G chr17 7520108 7520109 TP53_g.12227A>T - X54156.1(TP53):g.12227A>T chr17 7520232 7520233 TP53_g.12103C>A - X54156.1(TP53):g.12103C>A chr17 7519195 7519207 TP53_g.13127_13138del - X54156.1(TP53):g.13127_13138del chr17 7517797 7517799 TP53_g.14533_14534ins2 - X54156.1(TP53):g.14533_14534ins2 chr17 7517824 7517828 TP53_g.14504_14507del - X54156.1(TP53):g.14504_14507del chr17 7519100 7519101 TP53_g.13233G>T - X54156.1(TP53):g.13233G>T chr17 7518227 7518228 TP53_g.14105T>A - X54156.1(TP53):g.14105T>A chr17 7517742 7517744 TP53_g.14588_14589del - X54156.1(TP53):g.14588_14589del chr17 7519000 7519012 TP53_g.13322_13333del - X54156.1(TP53):g.13322_13333del chr17 7517589 7517590 TP53_g.14742T>C - X54156.1(TP53):g.14742T>C chr17 7518260 7518262 TP53_g.14071_14072ins1 - X54156.1(TP53):g.14071_14072ins1 chr17 7518225 7518234 TP53_g.14099_14107del - X54156.1(TP53):g.14099_14107del chr17 7517749 7517751 TP53_g.14581_14582ins4 - X54156.1(TP53):g.14581_14582ins4 chr17 7517811 7517843 TP53_g.14489_14520del - X54156.1(TP53):g.14489_14520del chr17 7517769 7517770 TP53_g.14562A>C - X54156.1(TP53):g.14562A>C chr17 7514747 7514748 TP53_g.17582G>T - X54156.1(TP53):g.17582G>T chr17 7514737 7514738 TP53_g.17592C>T - X54156.1(TP53):g.17592C>T chr17 7518903 7518905 TP53_g.13429_13430ins5 - X54156.1(TP53):g.13429_13430ins5 chr17 7519080 7519082 TP53_g.13252_13253ins1 - X54156.1(TP53):g.13252_13253ins1 chr17 7517624 7517625 TP53_g.14707C>A - X54156.1(TP53):g.14707C>A chr17 7517731 7517732 TP53_g.14600G>A - X54156.1(TP53):g.14600G>A chr17 7518313 7518315 TP53_g.14018_14019del - X54156.1(TP53):g.14018_14019del chr17 7518224 7518225 TP53_g.14108del - X54156.1(TP53):g.14108del chr17 7518212 7518222 TP53_g.14111_14120del - X54156.1(TP53):g.14111_14120del chr17 7519275 7519276 TP53_g.13058del - X54156.1(TP53):g.13058del chr17 7518321 7518322 TP53_g.14011C>A - X54156.1(TP53):g.14011C>A chr17 7519211 7519223 TP53_g.13111_13122del - X54156.1(TP53):g.13111_13122del chr17 7517786 7517849 TP53_g.14483_14545del - X54156.1(TP53):g.14483_14545del chr17 7519113 7519114 TP53_g.13220C>A - X54156.1(TP53):g.13220C>A chr17 7518908 7518909 TP53_g.13425C>G - X54156.1(TP53):g.13425C>G chr17 7518311 7518317 TP53_g.14016_14021del - X54156.1(TP53):g.14016_14021del chr17 7519212 7519214 TP53_g.13120_13121ins1 - X54156.1(TP53):g.13120_13121ins1 chr17 7519232 7519238 TP53_g.13096_13101del - X54156.1(TP53):g.13096_13101del chr17 7519234 7519237 TP53_g.13097_13099delinsGCG - X54156.1(TP53):g.13097_13099delinsGCG chr17 7519191 7519192 TP53_g.13142A>T - X54156.1(TP53):g.13142A>T chr17 7519204 7519205 TP53_g.13129A>C - X54156.1(TP53):g.13129A>C chr17 7519147 7519148 TP53_g.13186G>C - X54156.1(TP53):g.13186G>C chr17 7519000 7519001 TP53_g.13333T>A - X54156.1(TP53):g.13333T>A chr17 7518967 7518968 TP53_g.13366T>C - X54156.1(TP53):g.13366T>C chr17 7518937 7518938 TP53_g.13396T>G - X54156.1(TP53):g.13396T>G chr17 7517810 7517811 TP53_g.14521A>G - X54156.1(TP53):g.14521A>G chr17 7517849 7517852 TP53_g.14480_14482delinsTAA - X54156.1(TP53):g.14480_14482delinsTAA chr17 7519156 7519157 TP53_g.13177A>C - X54156.1(TP53):g.13177A>C chr17 7519213 7519214 TP53_g.13120T>G - X54156.1(TP53):g.13120T>G chr17 7519129 7519130 TP53_g.13204C>T - X54156.1(TP53):g.13204C>T chr17 7519096 7519097 TP53_g.13237T>A - X54156.1(TP53):g.13237T>A chr17 7519257 7519259 TP53_g.13075_13076ins1 - X54156.1(TP53):g.13075_13076ins1 chr17 7519210 7519213 TP53_g.13121_13123delinsTGA - X54156.1(TP53):g.13121_13123delinsTGA chr17 7517641 7517642 TP53_g.14690A>C - X54156.1(TP53):g.14690A>C chr17 7518926 7518927 TP53_g.13407T>G - X54156.1(TP53):g.13407T>G chr17 7518318 7518321 TP53_g.14012_14014delinsTA - X54156.1(TP53):g.14012_14014delinsTA chr17 7518288 7518291 TP53_g.14042_14044delinsTAA - X54156.1(TP53):g.14042_14044delinsTAA chr17 7517767 7517769 TP53_g.14563_14564ins1 - X54156.1(TP53):g.14563_14564ins1 chr17 7518270 7518272 TP53_g.14061_14062delinsAA - X54156.1(TP53):g.14061_14062delinsAA chr17 7518250 7518251 TP53_g.14082T>A - X54156.1(TP53):g.14082T>A chr17 7517641 7517643 TP53_g.14689_14690delinsTT - X54156.1(TP53):g.14689_14690delinsTT chr17 7518285 7518288 TP53_g.14045_14047delinsCCC - X54156.1(TP53):g.14045_14047delinsCCC chr17 7517605 7517606 TP53_g.14726C>G - X54156.1(TP53):g.14726C>G chr17 7517603 7517604 TP53_g.14728del - X54156.1(TP53):g.14728del chr17 7517602 7517604 TP53_g.14728_14729delinsGG - X54156.1(TP53):g.14728_14729delinsGG chr17 7517646 7517647 TP53_g.14685G>C - X54156.1(TP53):g.14685G>C chr17 7518273 7518275 TP53_g.14058_14059delinsAA - X54156.1(TP53):g.14058_14059delinsAA chr17 7517747 7517750 TP53_g.14582_14584delinsTAA - X54156.1(TP53):g.14582_14584delinsTAA chr17 7517602 7517603 TP53_g.14729T>G - X54156.1(TP53):g.14729T>G chr17 7517646 7517647 TP53_g.14685G>A - X54156.1(TP53):g.14685G>A chr17 7517626 7517627 TP53_g.14705C>G - X54156.1(TP53):g.14705C>G chr17 7517649 7517650 TP53_g.14682A>G - X54156.1(TP53):g.14682A>G chr17 7519248 7519250 TP53_g.13084_13085ins3 - X54156.1(TP53):g.13084_13085ins3 chr17 7519924 7520054 TP53_g.12282_12411del - X54156.1(TP53):g.12282_12411del chr17 7519221 7519228 TP53_g.13106_13112del - X54156.1(TP53):g.13106_13112del chr17 7518953 7518954 TP53_g.13380A>T - X54156.1(TP53):g.13380A>T chr17 7518288 7518291 TP53_g.14042_14044del - X54156.1(TP53):g.14042_14044del chr17 7519174 7519175 TP53_g.13159G>C - X54156.1(TP53):g.13159G>C chr17 7519210 7519212 TP53_g.13122_13123del - X54156.1(TP53):g.13122_13123del chr17 7517733 7517734 TP53_g.14598C>T - X54156.1(TP53):g.14598C>T chr17 7517728 7517729 TP53_g.14603C>T - X54156.1(TP53):g.14603C>T chr17 7518861 7518862 TP53_g.13472G>T - X54156.1(TP53):g.13472G>T chr17 7518869 7518870 TP53_g.13464G>T - X54156.1(TP53):g.13464G>T chr17 7517785 7517815 TP53_g.14517_14546del - X54156.1(TP53):g.14517_14546del chr17 7518967 7518969 TP53_g.13365_13366delinsCG - X54156.1(TP53):g.13365_13366delinsCG chr17 7518249 7518251 TP53_g.14082_14083ins1 - X54156.1(TP53):g.14082_14083ins1 chr17 7519201 7519203 TP53_g.13131_13132ins1 - X54156.1(TP53):g.13131_13132ins1 chr17 7519188 7519195 TP53_g.13139_13145del - X54156.1(TP53):g.13139_13145del chr17 7520086 7520088 TP53_g.12248_12249ins1 - X54156.1(TP53):g.12248_12249ins1 chr17 7517819 7517855 TP53_g.14477_14512del - X54156.1(TP53):g.14477_14512del chr17 7517650 7517744 TP53_g.14588_14681del - X54156.1(TP53):g.14588_14681del chr17 7514739 7514741 TP53_g.17589_17590ins1 - X54156.1(TP53):g.17589_17590ins1 chr17 7519243 7519245 TP53_g.13089_13090ins3 - X54156.1(TP53):g.13089_13090ins3 chr17 7519222 7519225 TP53_g.13109_13111delinsAAA - X54156.1(TP53):g.13109_13111delinsAAA chr17 7517802 7517803 TP53_g.14529A>C - X54156.1(TP53):g.14529A>C chr17 7517858 7517859 TP53_g.14473C>A - X54156.1(TP53):g.14473C>A chr17 7518351 7518352 TP53_g.13981G>A - X54156.1(TP53):g.13981G>A chr17 7518313 7518314 TP53_g.14019del - X54156.1(TP53):g.14019del chr17 7519162 7519163 TP53_g.13171del - X54156.1(TP53):g.13171del chr17 7518955 7518960 TP53_g.13374_13378del - X54156.1(TP53):g.13374_13378del chr17 7519258 7519263 TP53_g.13071_13075del - X54156.1(TP53):g.13071_13075del chr17 7518212 7518213 TP53_g.14120A>T - X54156.1(TP53):g.14120A>T chr17 7517787 7517810 TP53_g.14522_14544del - X54156.1(TP53):g.14522_14544del chr17 7517644 7517645 TP53_g.14687C>G - X54156.1(TP53):g.14687C>G chr17 7518916 7518917 TP53_g.13417C>T - X54156.1(TP53):g.13417C>T chr17 7519262 7519263 TP53_g.13071A>C - X54156.1(TP53):g.13071A>C chr17 7518324 7518325 TP53_g.14008T>C - X54156.1(TP53):g.14008T>C chr17 7517614 7517615 TP53_g.14717A>G - X54156.1(TP53):g.14717A>G chr17 7520117 7520119 TP53_g.12217_12218ins5 - X54156.1(TP53):g.12217_12218ins5 chr17 7517830 7517832 TP53_g.14500_14501ins3 - X54156.1(TP53):g.14500_14501ins3 chr17 7520100 7520101 TP53_g.12235del - X54156.1(TP53):g.12235del chr17 7520049 7520050 TP53_g.12286C>T - X54156.1(TP53):g.12286C>T chr17 7520213 7520214 TP53_g.12122G>A - X54156.1(TP53):g.12122G>A chr17 7520141 7520186 TP53_g.12150_12194del - X54156.1(TP53):g.12150_12194del chr17 7520084 7520085 TP53_g.12251C>T - X54156.1(TP53):g.12251C>T chr17 7517861 7517862 TP53_g.14470G>C - X54156.1(TP53):g.14470G>C chr17 7520018 7520019 TP53_g.12317G>A - X54156.1(TP53):g.12317G>A chr17 7517810 7517811 TP53_g.14521A>T - X54156.1(TP53):g.14521A>T chr17 7517586 7517587 TP53_g.14745C>T - X54156.1(TP53):g.14745C>T chr17 7518843 7518844 TP53_g.13490C>T - X54156.1(TP53):g.13490C>T chr17 7519087 7519088 TP53_g.13246G>A - X54156.1(TP53):g.13246G>A chr17 7520019 7520020 TP53_g.12316G>A - X54156.1(TP53):g.12316G>A chr17 7518192 7518193 TP53_g.14140G>A - X54156.1(TP53):g.14140G>A chr17 7518177 7518178 TP53_g.14155G>A - X54156.1(TP53):g.14155G>A chr17 7520280 7520281 TP53_g.12055T>C - X54156.1(TP53):g.12055T>C chr17 7520040 7520041 TP53_g.12295G>A - X54156.1(TP53):g.12295G>A chr17 7520077 7520078 TP53_g.12258G>A - X54156.1(TP53):g.12258G>A chr17 7519115 7519117 TP53_g.13217_13218del - X54156.1(TP53):g.13217_13218del chr17 7520153 7520183 TP53_g.12153_12182del - X54156.1(TP53):g.12153_12182del chr17 7520091 7520092 TP53_g.12244A>G - X54156.1(TP53):g.12244A>G chr17 7520038 7520039 TP53_g.12297A>G - X54156.1(TP53):g.12297A>G chr17 7520121 7520122 TP53_g.12214T>C - X54156.1(TP53):g.12214T>C chr17 7520281 7520282 TP53_g.12054A>G - X54156.1(TP53):g.12054A>G chr17 7520275 7520276 TP53_g.12060T>C - X54156.1(TP53):g.12060T>C chr17 7520058 7520059 TP53_g.12277C>G - X54156.1(TP53):g.12277C>G chr17 7519991 7519992 TP53_g.12344G>A - X54156.1(TP53):g.12344G>A chr17 7520119 7520120 TP53_g.12216C>T - X54156.1(TP53):g.12216C>T chr17 7517832 7517833 TP53_g.14499G>C - X54156.1(TP53):g.14499G>C chr17 7518211 7518212 TP53_g.14121C>T - X54156.1(TP53):g.14121C>T chr17 7520238 7520239 TP53_g.12097C>A - X54156.1(TP53):g.12097C>A chr17 7520064 7520065 TP53_g.12271C>T - X54156.1(TP53):g.12271C>T chr17 7520028 7520029 TP53_g.12307G>A - X54156.1(TP53):g.12307G>A chr17 7520021 7520022 TP53_g.12314G>A - X54156.1(TP53):g.12314G>A chr17 7519175 7519176 TP53_g.13158T>C - X54156.1(TP53):g.13158T>C chr17 7518917 7518918 TP53_g.13416C>G - X54156.1(TP53):g.13416C>G chr17 7520059 7520060 TP53_g.12276A>G - X54156.1(TP53):g.12276A>G chr17 7517767 7517768 TP53_g.14564C>G - X54156.1(TP53):g.14564C>G chr17 7519207 7519210 TP53_g.13124_13126delins15 - X54156.1(TP53):g.13124_13126delins15 chr17 7514714 7514715 TP53_g.17615A>C - X54156.1(TP53):g.17615A>C chr17 7518928 7518930 TP53_g.13404_13405delinsAA - X54156.1(TP53):g.13404_13405delinsAA chr17 7519031 7519165 TP53_g.13169_13302del - X54156.1(TP53):g.13169_13302del chr17 7518962 7518963 TP53_g.13371A>T - X54156.1(TP53):g.13371A>T chr17 7514726 7514727 TP53_g.17603G>T - X54156.1(TP53):g.17603G>T chr17 7517816 7517819 TP53_g.14513_14515del - X54156.1(TP53):g.14513_14515del chr17 7519125 7519126 TP53_g.13208C>A - X54156.1(TP53):g.13208C>A chr17 7518308 7518310 TP53_g.14023_14024ins4 - X54156.1(TP53):g.14023_14024ins4 chr17 7519172 7519213 TP53_g.13121_13161del - X54156.1(TP53):g.13121_13161del chr17 7519264 7519270 TP53_g.13064_13069del - X54156.1(TP53):g.13064_13069del chr17 7517569 7517570 TP53_g.14762G>A - X54156.1(TP53):g.14762G>A chr17 7514738 7514740 TP53_g.17590_17591ins6 - X54156.1(TP53):g.17590_17591ins6 chr17 7518266 7518267 TP53_g.14066del - X54156.1(TP53):g.14066del chr17 7520183 7520184 TP53_g.12152A>T - X54156.1(TP53):g.12152A>T chr17 7520125 7520126 TP53_g.12210T>C - X54156.1(TP53):g.12210T>C chr17 7518875 7518877 TP53_g.13457_13458delinsAA - X54156.1(TP53):g.13457_13458delinsAA chr17 7518876 7518877 TP53_g.13457G>A - X54156.1(TP53):g.13457G>A chr17 7517671 7517672 TP53_g.14660C>T - X54156.1(TP53):g.14660C>T chr17 7518875 7518876 TP53_g.13458G>A - X54156.1(TP53):g.13458G>A chr17 7518250 7518267 TP53_g.14066_14082del - X54156.1(TP53):g.14066_14082del chr17 7519264 7519266 TP53_g.13068_13069ins1 - X54156.1(TP53):g.13068_13069ins1 chr17 7513707 7513708 TP53_g.18624T>G - X54156.1(TP53):g.18624T>G chr17 7518997 7518999 TP53_g.13335_13336ins24 - X54156.1(TP53):g.13335_13336ins24 chr17 7518913 7518914 TP53_g.13420del - X54156.1(TP53):g.13420del chr17 7518224 7518236 TP53_g.14097_14108del - X54156.1(TP53):g.14097_14108del chr17 7517609 7517610 TP53_g.14722del - X54156.1(TP53):g.14722del chr17 7514621 7514622 TP53_g.17708A>T - X54156.1(TP53):g.17708A>T chr17 7519013 7519014 TP53_g.13320G>T - X54156.1(TP53):g.13320G>T chr17 7518904 7518929 TP53_g.13405_13429del - X54156.1(TP53):g.13405_13429del chr17 7517750 7517751 TP53_g.14581T>C - X54156.1(TP53):g.14581T>C chr17 7519229 7519230 TP53_g.13104C>G - X54156.1(TP53):g.13104C>G chr17 7519122 7519126 TP53_g.13208_13211del - X54156.1(TP53):g.13208_13211del chr17 7520188 7520189 TP53_g.12147del - X54156.1(TP53):g.12147del chr17 7519285 7519287 TP53_g.13047_13048ins1 - X54156.1(TP53):g.13047_13048ins1 chr17 7517818 7517828 TP53_g.14504_14513del - X54156.1(TP53):g.14504_14513del chr17 7520296 7520297 TP53_g.12039G>C - X54156.1(TP53):g.12039G>C chr17 7518934 7518937 TP53_g.13397_13399delinsTGG - X54156.1(TP53):g.13397_13399delinsTGG chr17 7514708 7514709 TP53_g.17621T>C - X54156.1(TP53):g.17621T>C chr17 7519004 7519017 TP53_g.13317_13329del - X54156.1(TP53):g.13317_13329del chr17 7517807 7517822 TP53_g.14510_14524del - X54156.1(TP53):g.14510_14524del chr17 7519223 7519245 TP53_g.13089_13110del - X54156.1(TP53):g.13089_13110del chr17 7519098 7519132 TP53_g.13202_13235del - X54156.1(TP53):g.13202_13235del chr17 7518287 7518289 TP53_g.14044_14045del - X54156.1(TP53):g.14044_14045del chr17 7517809 7517846 TP53_g.14486_14522del - X54156.1(TP53):g.14486_14522del chr17 7520189 7520196 TP53_g.12140_12146del - X54156.1(TP53):g.12140_12146del chr17 7517644 7517651 TP53_g.14681_14687del - X54156.1(TP53):g.14681_14687del chr17 7514747 7514748 TP53_g.17582del - X54156.1(TP53):g.17582del chr17 7517579 7517580 TP53_g.14752del - X54156.1(TP53):g.14752del chr17 7519170 7519173 TP53_g.13161_13163del - X54156.1(TP53):g.13161_13163del chr17 7518991 7518992 TP53_g.13342del - X54156.1(TP53):g.13342del chr17 7518298 7518306 TP53_g.14027_14034del - X54156.1(TP53):g.14027_14034del chr17 7518213 7518214 TP53_g.14119C>T - X54156.1(TP53):g.14119C>T chr17 7519092 7519093 TP53_g.13241G>A - X54156.1(TP53):g.13241G>A chr17 7518955 7518956 TP53_g.13378G>A - X54156.1(TP53):g.13378G>A chr17 7518926 7518927 TP53_g.13407T>C - X54156.1(TP53):g.13407T>C chr17 7517826 7517828 TP53_g.14504_14505del - X54156.1(TP53):g.14504_14505del chr17 7517822 7517823 TP53_g.14509A>G - X54156.1(TP53):g.14509A>G chr17 7517767 7517769 TP53_g.14563_14564ins10 - X54156.1(TP53):g.14563_14564ins10 chr17 7520258 7520259 TP53_g.12077A>G - X54156.1(TP53):g.12077A>G chr17 7520255 7520256 TP53_g.12080A>T - X54156.1(TP53):g.12080A>T chr17 7520249 7520250 TP53_g.12086C>A - X54156.1(TP53):g.12086C>A chr17 7520210 7520211 TP53_g.12125A>G - X54156.1(TP53):g.12125A>G chr17 7520122 7520123 TP53_g.12213G>A - X54156.1(TP53):g.12213G>A chr17 7520110 7520112 TP53_g.12224_12225ins1 - X54156.1(TP53):g.12224_12225ins1 chr17 7519102 7519104 TP53_g.13230_13231del - X54156.1(TP53):g.13230_13231del chr17 7519279 7519284 TP53_g.13050_13054del - X54156.1(TP53):g.13050_13054del chr17 7520224 7520228 TP53_g.12108_12111del - X54156.1(TP53):g.12108_12111del chr17 7519260 7519263 TP53_g.13071_13073del - X54156.1(TP53):g.13071_13073del chr17 7518282 7518296 TP53_g.14037_14050delins2 - X54156.1(TP53):g.14037_14050delins2 chr17 7517598 7517600 TP53_g.14732_14733del - X54156.1(TP53):g.14732_14733del chr17 7517836 7517842 TP53_g.14490_14495del - X54156.1(TP53):g.14490_14495del chr17 7517879 7517880 TP53_g.14452T>A - X54156.1(TP53):g.14452T>A chr17 7520196 7520197 TP53_g.12139G>A - X54156.1(TP53):g.12139G>A chr17 7520073 7520075 TP53_g.12261_12262delinsGG - X54156.1(TP53):g.12261_12262delinsGG chr17 7518290 7518292 TP53_g.14041_14042del - X54156.1(TP53):g.14041_14042del chr17 7518295 7518297 TP53_g.14036_14037del - X54156.1(TP53):g.14036_14037del chr17 7519196 7519228 TP53_g.13106_13137del - X54156.1(TP53):g.13106_13137del chr17 7520175 7520176 TP53_g.12160C>G - X54156.1(TP53):g.12160C>G chr17 7519260 7519261 TP53_g.13073del - X54156.1(TP53):g.13073del chr17 7519231 7519232 TP53_g.13102del - X54156.1(TP53):g.13102del chr17 7519135 7519150 TP53_g.13184_13198delins4 - X54156.1(TP53):g.13184_13198delins4 chr17 7517873 7517875 TP53_g.14457_14458ins1 - X54156.1(TP53):g.14457_14458ins1 chr17 7519184 7519213 TP53_g.13121_13149del - X54156.1(TP53):g.13121_13149del chr17 7517781 7517837 TP53_g.14495_14550del - X54156.1(TP53):g.14495_14550del chr17 7519172 7519174 TP53_g.13160_13161delinsTT - X54156.1(TP53):g.13160_13161delinsTT chr17 7518284 7518286 TP53_g.14047_14048ins1 - X54156.1(TP53):g.14047_14048ins1 chr17 7517589 7517591 TP53_g.14741_14742del - X54156.1(TP53):g.14741_14742del chr17 7518959 7518961 TP53_g.13373_13374ins1 - X54156.1(TP53):g.13373_13374ins1 chr17 7518926 7518934 TP53_g.13400_13407del - X54156.1(TP53):g.13400_13407del chr17 7519187 7519188 TP53_g.13146del - X54156.1(TP53):g.13146del chr17 7518322 7518323 TP53_g.14010A>T - X54156.1(TP53):g.14010A>T chr17 7514757 7514758 TP53_g.17572A>G - X54156.1(TP53):g.17572A>G chr17 7518248 7518257 TP53_g.14076_14084del - X54156.1(TP53):g.14076_14084del chr17 7519225 7519243 TP53_g.13091_13108del - X54156.1(TP53):g.13091_13108del chr17 7518940 7518941 TP53_g.13393del - X54156.1(TP53):g.13393del chr17 7519172 7519173 TP53_g.13161del - X54156.1(TP53):g.13161del chr17 7517741 7517742 TP53_g.14590T>A - X54156.1(TP53):g.14590T>A chr17 7518922 7518923 TP53_g.13411G>C - X54156.1(TP53):g.13411G>C chr17 7518251 7518258 TP53_g.14075_14081del - X54156.1(TP53):g.14075_14081del chr17 7520196 7520197 TP53_g.12139del - X54156.1(TP53):g.12139del chr17 7518322 7518324 TP53_g.14009_14010del - X54156.1(TP53):g.14009_14010del chr17 7518931 7518932 TP53_g.13402T>A - X54156.1(TP53):g.13402T>A chr17 7518942 7518944 TP53_g.13390_13391ins1 - X54156.1(TP53):g.13390_13391ins1 chr17 7519233 7519235 TP53_g.13099_13100ins1 - X54156.1(TP53):g.13099_13100ins1 chr17 7514736 7514738 TP53_g.17592_17593ins16 - X54156.1(TP53):g.17592_17593ins16 chr17 7514718 7514719 TP53_g.17611del - X54156.1(TP53):g.17611del chr17 7517880 7517882 TP53_g.14450_14451ins3 - X54156.1(TP53):g.14450_14451ins3 chr17 7517797 7517799 TP53_g.14533_14534ins1 - X54156.1(TP53):g.14533_14534ins1 chr17 7518930 7518932 TP53_g.13402_13403ins5 - X54156.1(TP53):g.13402_13403ins5 chr17 7519016 7519022 TP53_g.13312_13317del - X54156.1(TP53):g.13312_13317del chr17 7519119 7519121 TP53_g.13213_13214ins1 - X54156.1(TP53):g.13213_13214ins1 chr17 7519268 7519273 TP53_g.13061_13065del - X54156.1(TP53):g.13061_13065del chr17 7519100 7519108 TP53_g.13226_13233del - X54156.1(TP53):g.13226_13233del chr17 7517785 7517789 TP53_g.14543_14546del - X54156.1(TP53):g.14543_14546del chr17 7518912 7518914 TP53_g.13420_13421ins1 - X54156.1(TP53):g.13420_13421ins1 chr17 7518269 7518271 TP53_g.14062_14063ins1 - X54156.1(TP53):g.14062_14063ins1 chr17 7520083 7520085 TP53_g.12251_12252ins4 - X54156.1(TP53):g.12251_12252ins4 chr17 7519202 7519204 TP53_g.13130_13131delinsAT - X54156.1(TP53):g.13130_13131delinsAT chr17 7520249 7520250 TP53_g.12086del - X54156.1(TP53):g.12086del chr17 7514755 7514756 TP53_g.17574del - X54156.1(TP53):g.17574del chr17 7518237 7518245 TP53_g.14088_14095del - X54156.1(TP53):g.14088_14095del chr17 7517637 7517638 TP53_g.14694del - X54156.1(TP53):g.14694del chr17 7517599 7517600 TP53_g.14732del - X54156.1(TP53):g.14732del chr17 7514754 7514755 TP53_g.17575del - X54156.1(TP53):g.17575del chr17 7519150 7519165 TP53_g.13169_13183del - X54156.1(TP53):g.13169_13183del chr17 7520034 7520046 TP53_g.12290_12301del - X54156.1(TP53):g.12290_12301del chr17 7519143 7519145 TP53_g.13189_13190ins6 - X54156.1(TP53):g.13189_13190ins6 chr17 7518975 7518976 TP53_g.13358A>G - X54156.1(TP53):g.13358A>G chr17 7517771 7517772 TP53_g.14560C>T - X54156.1(TP53):g.14560C>T chr17 7520078 7520079 TP53_g.12257del - X54156.1(TP53):g.12257del chr17 7517795 7517797 TP53_g.14535_14536del - X54156.1(TP53):g.14535_14536del chr17 7520133 7520134 TP53_g.12202T>C - X54156.1(TP53):g.12202T>C chr17 7517755 7517777 TP53_g.14555_14576del - X54156.1(TP53):g.14555_14576del chr17 7517753 7517756 TP53_g.14576_14578delinsGT - X54156.1(TP53):g.14576_14578delinsGT chr17 7517806 7517828 TP53_g.14504_14525del - X54156.1(TP53):g.14504_14525del chr17 7517575 7517577 TP53_g.14755_14756delinsAC - X54156.1(TP53):g.14755_14756delinsAC chr17 7519115 7519125 TP53_g.13209_13218del - X54156.1(TP53):g.13209_13218del chr17 7517611 7517612 TP53_g.14720del - X54156.1(TP53):g.14720del chr17 7520034 7520035 TP53_g.12301T>A - X54156.1(TP53):g.12301T>A chr17 7518225 7518226 TP53_g.14107del - X54156.1(TP53):g.14107del chr17 7519213 7519214 TP53_g.13120T>A - X54156.1(TP53):g.13120T>A chr17 7518931 7518940 TP53_g.13394_13402delins1 - X54156.1(TP53):g.13394_13402delins1 chr17 7517625 7517626 TP53_g.14706T>G - X54156.1(TP53):g.14706T>G chr17 7517584 7517585 TP53_g.14747C>G - X54156.1(TP53):g.14747C>G chr17 7520142 7520143 TP53_g.12193C>A - X54156.1(TP53):g.12193C>A chr17 7518954 7518955 TP53_g.13379G>A - X54156.1(TP53):g.13379G>A chr17 7517790 7517791 TP53_g.14541A>T - X54156.1(TP53):g.14541A>T chr17 7517785 7517786 TP53_g.14546G>C - X54156.1(TP53):g.14546G>C chr17 7518258 7518267 TP53_g.14066_14074del - X54156.1(TP53):g.14066_14074del chr17 7520130 7520131 TP53_g.12205C>G - X54156.1(TP53):g.12205C>G chr17 7520188 7520198 TP53_g.12138_12147del - X54156.1(TP53):g.12138_12147del chr17 7519119 7519131 TP53_g.13203_13214del - X54156.1(TP53):g.13203_13214del chr17 7517877 7517879 TP53_g.14453_14454delinsCA - X54156.1(TP53):g.14453_14454delinsCA chr17 7518941 7518943 TP53_g.13391_13392ins1 - X54156.1(TP53):g.13391_13392ins1 chr17 7519118 7519119 TP53_g.13215del - X54156.1(TP53):g.13215del chr17 7519239 7519243 TP53_g.13091_13094del - X54156.1(TP53):g.13091_13094del chr17 7519193 7519194 TP53_g.13140G>C - X54156.1(TP53):g.13140G>C chr17 7518973 7518974 TP53_g.13360T>C - X54156.1(TP53):g.13360T>C chr17 7517648 7517649 TP53_g.14683C>G - X54156.1(TP53):g.14683C>G chr17 7519187 7519189 TP53_g.13145_13146del - X54156.1(TP53):g.13145_13146del chr17 7520149 7520165 TP53_g.12171_12186del - X54156.1(TP53):g.12171_12186del chr17 7518928 7518937 TP53_g.13397_13405delins3 - X54156.1(TP53):g.13397_13405delins3 chr17 7517836 7517837 TP53_g.14495del - X54156.1(TP53):g.14495del chr17 7514661 7514662 TP53_g.17668G>A - X54156.1(TP53):g.17668G>A chr17 7518327 7518333 TP53_g.14000_14005del - X54156.1(TP53):g.14000_14005del chr17 7520191 7520192 TP53_g.12144del - X54156.1(TP53):g.12144del chr17 7520208 7520216 TP53_g.12120_12127del - X54156.1(TP53):g.12120_12127del chr17 7518233 7518240 TP53_g.14093_14099del - X54156.1(TP53):g.14093_14099del chr17 7520200 7520202 TP53_g.12134_12135ins4 - X54156.1(TP53):g.12134_12135ins4 chr17 7520260 7520261 TP53_g.12075del - X54156.1(TP53):g.12075del chr17 7519201 7519207 TP53_g.13127_13132del - X54156.1(TP53):g.13127_13132del chr17 7520145 7520159 TP53_g.12177_12190del - X54156.1(TP53):g.12177_12190del chr17 7517612 7517631 TP53_g.14701_14719del - X54156.1(TP53):g.14701_14719del chr17 7518255 7518257 TP53_g.14076_14077delinsTT - X54156.1(TP53):g.14076_14077delinsTT chr17 7517637 7517638 TP53_g.14694C>G - X54156.1(TP53):g.14694C>G chr17 7518961 7518962 TP53_g.13372G>C - X54156.1(TP53):g.13372G>C chr17 7518952 7518953 TP53_g.13381T>G - X54156.1(TP53):g.13381T>G chr17 7518234 7518235 TP53_g.14098del - X54156.1(TP53):g.14098del chr17 7519110 7519129 TP53_g.13205_13223del - X54156.1(TP53):g.13205_13223del chr17 7519094 7519095 TP53_g.13239G>C - X54156.1(TP53):g.13239G>C chr17 7519177 7519189 TP53_g.13145_13156del - X54156.1(TP53):g.13145_13156del chr17 7520128 7520130 TP53_g.12206_12207ins17 - X54156.1(TP53):g.12206_12207ins17 chr17 7517581 7517583 TP53_g.14749_14750del - X54156.1(TP53):g.14749_14750del chr17 7519109 7519126 TP53_g.13208_13224del - X54156.1(TP53):g.13208_13224del chr17 7519141 7519142 TP53_g.13192G>T - X54156.1(TP53):g.13192G>T chr17 7519258 7519259 TP53_g.13075del - X54156.1(TP53):g.13075del chr17 7518275 7518277 TP53_g.14056_14057delinsTT - X54156.1(TP53):g.14056_14057delinsTT chr17 7514724 7514726 TP53_g.17604_17605ins18 - X54156.1(TP53):g.17604_17605ins18 chr17 7520157 7520158 TP53_g.12178C>T - X54156.1(TP53):g.12178C>T chr17 7519250 7519251 TP53_g.13083del - X54156.1(TP53):g.13083del chr17 7517836 7517838 TP53_g.14494_14495ins4 - X54156.1(TP53):g.14494_14495ins4 chr17 7517827 7517828 TP53_g.14504G>C - X54156.1(TP53):g.14504G>C chr17 7519254 7519256 TP53_g.13078_13079ins8 - X54156.1(TP53):g.13078_13079ins8 chr17 7519150 7519151 TP53_g.13183del - X54156.1(TP53):g.13183del chr17 7519166 7519167 TP53_g.13167del - X54156.1(TP53):g.13167del chr17 7520167 7520169 TP53_g.12167_12168ins5 - X54156.1(TP53):g.12167_12168ins5 chr17 7518953 7518958 TP53_g.13376_13380del - X54156.1(TP53):g.13376_13380del chr17 7520115 7520117 TP53_g.12219_12220del - X54156.1(TP53):g.12219_12220del chr17 7519219 7519222 TP53_g.13112_13114del - X54156.1(TP53):g.13112_13114del chr17 7518906 7518910 TP53_g.13424_13427del - X54156.1(TP53):g.13424_13427del chr17 7518988 7518997 TP53_g.13337_13345delinsGCCCCT - X54156.1(TP53):g.13337_13345delinsGCCCCT chr17 7518324 7518325 TP53_g.14008T>A - X54156.1(TP53):g.14008T>A chr17 7520287 7520288 TP53_g.12048G>T - X54156.1(TP53):g.12048G>T chr17 7520194 7520195 TP53_g.12141G>T - X54156.1(TP53):g.12141G>T chr17 7519175 7519176 TP53_g.13158T>A - X54156.1(TP53):g.13158T>A chr17 7517882 7517883 TP53_g.14449T>A - X54156.1(TP53):g.14449T>A chr17 7520030 7520096 TP53_g.12240_12305del - X54156.1(TP53):g.12240_12305del chr17 7518948 7518979 TP53_g.13355_13385del - X54156.1(TP53):g.13355_13385del chr17 7518308 7518318 TP53_g.14015_14024del - X54156.1(TP53):g.14015_14024del chr17 7513701 7513703 TP53_g.18629_18630ins2 - X54156.1(TP53):g.18629_18630ins2 chr17 7520263 7520265 TP53_g.12071_12072del - X54156.1(TP53):g.12071_12072del chr17 7519147 7519149 TP53_g.13185_13186ins1 - X54156.1(TP53):g.13185_13186ins1 chr17 7518284 7518309 TP53_g.14024_14048del - X54156.1(TP53):g.14024_14048del chr17 7517589 7517590 TP53_g.14742T>G - X54156.1(TP53):g.14742T>G chr17 7519229 7519232 TP53_g.13102_13104del - X54156.1(TP53):g.13102_13104del chr17 7517581 7517582 TP53_g.14750del - X54156.1(TP53):g.14750del chr17 7519132 7519141 TP53_g.13193_13201del - X54156.1(TP53):g.13193_13201del chr17 7519222 7519231 TP53_g.13103_13111del - X54156.1(TP53):g.13103_13111del chr17 7518223 7518229 TP53_g.14104_14109del - X54156.1(TP53):g.14104_14109del chr17 7518950 7518952 TP53_g.13382_13383delinsAT - X54156.1(TP53):g.13382_13383delinsAT chr17 7519248 7519250 TP53_g.13084_13085ins18 - X54156.1(TP53):g.13084_13085ins18 chr17 7520116 7520117 TP53_g.12219T>C - X54156.1(TP53):g.12219T>C chr17 7517789 7517790 TP53_g.14542del - X54156.1(TP53):g.14542del chr17 7520040 7520042 TP53_g.12294_12295ins1 - X54156.1(TP53):g.12294_12295ins1 chr17 7520040 7520041 TP53_g.12295G>C - X54156.1(TP53):g.12295G>C chr17 7514738 7514739 TP53_g.17591del - X54156.1(TP53):g.17591del chr17 7514758 7514759 TP53_g.17571G>A - X54156.1(TP53):g.17571G>A chr17 7520286 7520291 TP53_g.12045_12049del - X54156.1(TP53):g.12045_12049del chr17 7517564 7517586 TP53_g.14746_14767del - X54156.1(TP53):g.14746_14767del chr17 7514732 7514737 TP53_g.17593_17597del - X54156.1(TP53):g.17593_17597del chr17 7519145 7519146 TP53_g.13188del - X54156.1(TP53):g.13188del chr17 7520316 7520317 TP53_g.12019A>G - X54156.1(TP53):g.12019A>G chr17 7517829 7517831 TP53_g.14501_14502delinsTT - X54156.1(TP53):g.14501_14502delinsTT chr17 7520164 7520166 TP53_g.12170_12171ins8 - X54156.1(TP53):g.12170_12171ins8 chr17 7517603 7517604 TP53_g.14728C>G - X54156.1(TP53):g.14728C>G chr17 7519224 7519226 TP53_g.13108_13109del - X54156.1(TP53):g.13108_13109del chr17 7519000 7519002 TP53_g.13332_13333ins2 - X54156.1(TP53):g.13332_13333ins2 chr17 7519168 7519189 TP53_g.13145_13165del - X54156.1(TP53):g.13145_13165del chr17 7517632 7517633 TP53_g.14699del - X54156.1(TP53):g.14699del chr17 7513657 7513659 TP53_g.18673_18674ins1 - X54156.1(TP53):g.18673_18674ins1 chr17 7520620 7520621 TP53_g.11733C>T - X54156.1(TP53):g.11733C>T chr17 7520250 7520251 TP53_g.12085T>A - X54156.1(TP53):g.12085T>A chr17 7520137 7520138 TP53_g.12198C>T - X54156.1(TP53):g.12198C>T chr17 7517803 7517804 TP53_g.14528del - X54156.1(TP53):g.14528del chr17 7517633 7517634 TP53_g.14698A>C - X54156.1(TP53):g.14698A>C chr17 7519153 7519155 TP53_g.13179_13180ins2 - X54156.1(TP53):g.13179_13180ins2 chr17 7517828 7517829 TP53_g.14503del - X54156.1(TP53):g.14503del chr17 7518916 7518917 TP53_g.13417C>A - X54156.1(TP53):g.13417C>A chr17 7518899 7518900 TP53_g.13434T>A - X54156.1(TP53):g.13434T>A chr17 7517807 7517809 TP53_g.14523_14524ins48 - X54156.1(TP53):g.14523_14524ins48 chr17 7518278 7518280 TP53_g.14053_14054ins7 - X54156.1(TP53):g.14053_14054ins7 chr17 7517778 7517780 TP53_g.14552_14553del - X54156.1(TP53):g.14552_14553del chr17 7519238 7519239 TP53_g.13095A>C - X54156.1(TP53):g.13095A>C chr17 7518992 7519002 TP53_g.13332_13341del - X54156.1(TP53):g.13332_13341del chr17 7520223 7520263 TP53_g.12073_12112del - X54156.1(TP53):g.12073_12112del chr17 7517599 7517601 TP53_g.14731_14732delinsAG - X54156.1(TP53):g.14731_14732delinsAG chr17 7519165 7519171 TP53_g.13163_13168del - X54156.1(TP53):g.13163_13168del chr17 7518294 7518300 TP53_g.14033_14038del - X54156.1(TP53):g.14033_14038del chr17 7517574 7517577 TP53_g.14755_14757delinsC - X54156.1(TP53):g.14755_14757delinsC chr17 7517814 7517816 TP53_g.14516_14517del - X54156.1(TP53):g.14516_14517del chr17 7519182 7519184 TP53_g.13150_13151ins1 - X54156.1(TP53):g.13150_13151ins1 chr17 7514684 7514685 TP53_g.17645G>C - X54156.1(TP53):g.17645G>C chr17 7517633 7517682 TP53_g.14650_14698del - X54156.1(TP53):g.14650_14698del chr17 7520221 7520261 TP53_g.12075_12114del - X54156.1(TP53):g.12075_12114del chr17 7518282 7518294 TP53_g.14039_14050del - X54156.1(TP53):g.14039_14050del chr17 7518272 7518274 TP53_g.14059_14060ins11 - X54156.1(TP53):g.14059_14060ins11 chr17 7518323 7518325 TP53_g.14008_14009ins13 - X54156.1(TP53):g.14008_14009ins13 chr17 7517864 7517865 TP53_g.14467A>T - X54156.1(TP53):g.14467A>T chr17 7518330 7518331 TP53_g.14002T>C - X54156.1(TP53):g.14002T>C chr17 7519221 7519222 TP53_g.13112C>A - X54156.1(TP53):g.13112C>A chr17 7518951 7518964 TP53_g.13370_13382del - X54156.1(TP53):g.13370_13382del chr17 7518940 7518942 TP53_g.13392_13393del - X54156.1(TP53):g.13392_13393del chr17 7514748 7514749 TP53_g.17581C>G - X54156.1(TP53):g.17581C>G chr17 7519175 7519183 TP53_g.13151_13158del - X54156.1(TP53):g.13151_13158del chr17 7520034 7520035 TP53_g.12301T>C - X54156.1(TP53):g.12301T>C chr17 7518260 7518274 TP53_g.14059_14072del - X54156.1(TP53):g.14059_14072del chr17 7519251 7519253 TP53_g.13081_13082ins1 - X54156.1(TP53):g.13081_13082ins1 chr17 7518369 7519210 TP53_g.13124_13963del - X54156.1(TP53):g.13124_13963del chr17 7518923 7518928 TP53_g.13406_13410del - X54156.1(TP53):g.13406_13410del chr17 7519007 7519008 TP53_g.13326C>G - X54156.1(TP53):g.13326C>G chr17 7520282 7520358 TP53_g.11978_12053del - X54156.1(TP53):g.11978_12053del chr17 7520062 7520063 TP53_g.12273G>A - X54156.1(TP53):g.12273G>A chr17 7518320 7518321 TP53_g.14012del - X54156.1(TP53):g.14012del chr17 7517875 7517877 TP53_g.14455_14456ins1 - X54156.1(TP53):g.14455_14456ins1 chr17 7517839 7517841 TP53_g.14491_14492ins3 - X54156.1(TP53):g.14491_14492ins3 chr17 7517627 7517628 TP53_g.14704del - X54156.1(TP53):g.14704del chr17 7518930 7518932 TP53_g.13402_13403ins1 - X54156.1(TP53):g.13402_13403ins1 chr17 7519221 7519222 TP53_g.13112C>T - X54156.1(TP53):g.13112C>T chr17 7518988 7518990 TP53_g.13344_13345ins1 - X54156.1(TP53):g.13344_13345ins1 chr17 7518876 7518877 TP53_g.13457G>C - X54156.1(TP53):g.13457G>C chr17 7517873 7517876 TP53_g.14456_14458delinsTAG - X54156.1(TP53):g.14456_14458delinsTAG chr17 7520225 7520226 TP53_g.12110A>C - X54156.1(TP53):g.12110A>C chr17 7520224 7520225 TP53_g.12111G>A - X54156.1(TP53):g.12111G>A chr17 7520230 7520231 TP53_g.12105G>A - X54156.1(TP53):g.12105G>A chr17 7519153 7519154 TP53_g.13180G>C - X54156.1(TP53):g.13180G>C chr17 7519004 7519005 TP53_g.13329C>A - X54156.1(TP53):g.13329C>A chr17 7518263 7518265 TP53_g.14068_14069delinsAT - X54156.1(TP53):g.14068_14069delinsAT chr17 7518978 7518980 TP53_g.13354_13355ins63 - X54156.1(TP53):g.13354_13355ins63 chr17 7517811 7517812 TP53_g.14520C>A - X54156.1(TP53):g.14520C>A chr17 7518332 7518333 TP53_g.14000G>T - X54156.1(TP53):g.14000G>T chr17 7517839 7517841 TP53_g.14491_14492ins1 - X54156.1(TP53):g.14491_14492ins1 chr17 7518255 7518267 TP53_g.14066_14077del - X54156.1(TP53):g.14066_14077del chr17 7517605 7517606 TP53_g.14726C>T - X54156.1(TP53):g.14726C>T chr17 7519153 7519154 TP53_g.13180G>T - X54156.1(TP53):g.13180G>T chr17 7519241 7519242 TP53_g.13092del - X54156.1(TP53):g.13092del chr17 7518245 7518246 TP53_g.14087del - X54156.1(TP53):g.14087del chr17 7518293 7518294 TP53_g.14039del - X54156.1(TP53):g.14039del chr17 7518991 7518993 TP53_g.13341_13342del - X54156.1(TP53):g.13341_13342del chr17 7518246 7518248 TP53_g.14085_14086ins1 - X54156.1(TP53):g.14085_14086ins1 chr17 7517633 7517635 TP53_g.14697_14698ins1 - X54156.1(TP53):g.14697_14698ins1 chr17 7518302 7518303 TP53_g.14030A>C - X54156.1(TP53):g.14030A>C chr17 7517825 7517826 TP53_g.14506G>T - X54156.1(TP53):g.14506G>T chr17 7519134 7519135 TP53_g.13199A>G - X54156.1(TP53):g.13199A>G chr17 7517830 7517840 TP53_g.14492_14501del - X54156.1(TP53):g.14492_14501del chr17 7518270 7518272 TP53_g.14061_14062delinsTA - X54156.1(TP53):g.14061_14062delinsTA chr17 7517855 7517864 TP53_g.14468_14476del - X54156.1(TP53):g.14468_14476del chr17 7520086 7520087 TP53_g.12249T>C - X54156.1(TP53):g.12249T>C chr17 7518321 7518322 TP53_g.14011del - X54156.1(TP53):g.14011del chr17 7517855 7517856 TP53_g.14476C>A - X54156.1(TP53):g.14476C>A chr17 7520281 7520303 TP53_g.12033_12054del - X54156.1(TP53):g.12033_12054del chr17 7519246 7519247 TP53_g.13087A>T - X54156.1(TP53):g.13087A>T chr17 7518290 7518291 TP53_g.14042A>C - X54156.1(TP53):g.14042A>C chr17 7520065 7520066 TP53_g.12270T>C - X54156.1(TP53):g.12270T>C chr17 7519088 7519279 TP53_g.13055_13245del - X54156.1(TP53):g.13055_13245del chr17 7520005 7520054 TP53_g.12282_12330del - X54156.1(TP53):g.12282_12330del chr17 7517878 7517879 TP53_g.14453G>T - X54156.1(TP53):g.14453G>T chr17 7520056 7520057 TP53_g.12279G>A - X54156.1(TP53):g.12279G>A chr17 7513702 7513703 TP53_g.18629C>A - X54156.1(TP53):g.18629C>A chr17 7519097 7519258 TP53_g.13076_13236del - X54156.1(TP53):g.13076_13236del chr17 7518946 7518947 TP53_g.13387A>G - X54156.1(TP53):g.13387A>G chr17 7518854 7518857 TP53_g.13477_13479delinsAGTTA - X54156.1(TP53):g.13477_13479delinsAGTTA chr17 7518331 7518332 TP53_g.14001T>G - X54156.1(TP53):g.14001T>G chr17 7518331 7518332 TP53_g.14001T>A - X54156.1(TP53):g.14001T>A chr17 7519277 7519279 TP53_g.13055_13056delinsGG - X54156.1(TP53):g.13055_13056delinsGG chr17 7519180 7519182 TP53_g.13152_13153delinsAA - X54156.1(TP53):g.13152_13153delinsAA chr17 7517578 7517579 TP53_g.14753A>G - X54156.1(TP53):g.14753A>G chr17 7518329 7518330 TP53_g.14003del - X54156.1(TP53):g.14003del chr17 7520136 7520273 TP53_g.12063_12199del - X54156.1(TP53):g.12063_12199del chr17 7519211 7519213 TP53_g.13121_13122del - X54156.1(TP53):g.13121_13122del chr17 7518220 7518226 TP53_g.14107_14112del - X54156.1(TP53):g.14107_14112del chr17 7517781 7517782 TP53_g.14550del - X54156.1(TP53):g.14550del chr17 7518302 7518304 TP53_g.14029_14030ins6 - X54156.1(TP53):g.14029_14030ins6 chr17 7519248 7519249 TP53_g.13085C>A - X54156.1(TP53):g.13085C>A chr17 7517875 7517877 TP53_g.14455_14456ins5 - X54156.1(TP53):g.14455_14456ins5 chr17 7518906 7518907 TP53_g.13427C>T - X54156.1(TP53):g.13427C>T chr17 7519123 7519124 TP53_g.13210C>G - X54156.1(TP53):g.13210C>G chr17 7520063 7520078 TP53_g.12258_12272del - X54156.1(TP53):g.12258_12272del chr17 7520187 7520188 TP53_g.12148C>G - X54156.1(TP53):g.12148C>G chr17 7518964 7518965 TP53_g.13369G>C - X54156.1(TP53):g.13369G>C chr17 7518986 7518987 TP53_g.13347G>T - X54156.1(TP53):g.13347G>T chr17 7517778 7517779 TP53_g.14553C>G - X54156.1(TP53):g.14553C>G chr17 7519265 7519269 TP53_g.13065_13068del - X54156.1(TP53):g.13065_13068del chr17 7519210 7519211 TP53_g.13123del - X54156.1(TP53):g.13123del chr17 7519131 7519133 TP53_g.13201_13202del - X54156.1(TP53):g.13201_13202del chr17 7517848 7517866 TP53_g.14466_14483del - X54156.1(TP53):g.14466_14483del chr17 7518226 7518228 TP53_g.14105_14106ins1 - X54156.1(TP53):g.14105_14106ins1 chr17 7520297 7520298 TP53_g.12038del - X54156.1(TP53):g.12038del chr17 7518281 7518290 TP53_g.14043_14051del - X54156.1(TP53):g.14043_14051del chr17 7520302 7520303 TP53_g.12033T>A - X54156.1(TP53):g.12033T>A chr17 7519182 7519189 TP53_g.13145_13151del - X54156.1(TP53):g.13145_13151del chr17 7520256 7520258 TP53_g.12078_12079ins4 - X54156.1(TP53):g.12078_12079ins4 chr17 7520134 7520136 TP53_g.12200_12201ins1 - X54156.1(TP53):g.12200_12201ins1 chr17 7519216 7519220 TP53_g.13114_13117del - X54156.1(TP53):g.13114_13117del chr17 7517643 7517644 TP53_g.14688C>A - X54156.1(TP53):g.14688C>A chr17 7519037 7519038 TP53_g.13296T>G - X54156.1(TP53):g.13296T>G chr17 7518301 7518302 TP53_g.14031A>T - X54156.1(TP53):g.14031A>T chr17 7519252 7519253 TP53_g.13081T>C - X54156.1(TP53):g.13081T>C chr17 7518998 7518999 TP53_g.13335A>C - X54156.1(TP53):g.13335A>C chr17 7517619 7517622 TP53_g.14710_14712delinsAAG - X54156.1(TP53):g.14710_14712delinsAAG chr17 7519193 7519195 TP53_g.13139_13140delinsAT - X54156.1(TP53):g.13139_13140delinsAT chr17 7517764 7517766 TP53_g.14566_14567ins1 - X54156.1(TP53):g.14566_14567ins1 chr17 7519177 7519178 TP53_g.13156del - X54156.1(TP53):g.13156del chr17 7519129 7519153 TP53_g.13181_13204del - X54156.1(TP53):g.13181_13204del chr17 7517871 7517872 TP53_g.14460T>A - X54156.1(TP53):g.14460T>A chr17 7520112 7520113 TP53_g.12223A>G - X54156.1(TP53):g.12223A>G chr17 7519223 7519237 TP53_g.13097_13110del - X54156.1(TP53):g.13097_13110del chr17 7519126 7519128 TP53_g.13206_13207del - X54156.1(TP53):g.13206_13207del chr17 7518984 7519012 TP53_g.13322_13349del - X54156.1(TP53):g.13322_13349del chr17 7518302 7518304 TP53_g.14029_14030ins9 - X54156.1(TP53):g.14029_14030ins9 chr17 7518256 7518258 TP53_g.14075_14076del - X54156.1(TP53):g.14075_14076del chr17 7517875 7517877 TP53_g.14455_14456ins9 - X54156.1(TP53):g.14455_14456ins9 chr17 7517845 7517847 TP53_g.14485_14486ins25 - X54156.1(TP53):g.14485_14486ins25 chr17 7519001 7519004 TP53_g.13330_13332del - X54156.1(TP53):g.13330_13332del chr17 7517817 7517823 TP53_g.14509_14514del - X54156.1(TP53):g.14509_14514del chr17 7518969 7518971 TP53_g.13363_13364ins4 - X54156.1(TP53):g.13363_13364ins4 chr17 7513654 7513658 TP53_g.18674_18677del - X54156.1(TP53):g.18674_18677del chr17 7520041 7520042 TP53_g.12294T>G - X54156.1(TP53):g.12294T>G chr17 7520044 7520046 TP53_g.12290_12291ins1 - X54156.1(TP53):g.12290_12291ins1 chr17 7519272 7519277 TP53_g.13057_13061delinsA - X54156.1(TP53):g.13057_13061delinsA chr17 7517797 7517798 TP53_g.14534del - X54156.1(TP53):g.14534del chr17 7518967 7519003 TP53_g.13331_13366delins1 - X54156.1(TP53):g.13331_13366delins1 chr17 7517850 7517852 TP53_g.14480_14481delinsCC - X54156.1(TP53):g.14480_14481delinsCC chr17 7517655 7517657 TP53_g.14675_14676ins1 - X54156.1(TP53):g.14675_14676ins1 chr17 7520083 7520084 TP53_g.12252C>A - X54156.1(TP53):g.12252C>A chr17 7519115 7519116 TP53_g.13218del - X54156.1(TP53):g.13218del chr17 7518307 7518308 TP53_g.14025A>C - X54156.1(TP53):g.14025A>C chr17 7519272 7519273 TP53_g.13061C>G - X54156.1(TP53):g.13061C>G chr17 7518945 7518947 TP53_g.13387_13388ins4 - X54156.1(TP53):g.13387_13388ins4 chr17 7517818 7517820 TP53_g.14512_14513delinsAT - X54156.1(TP53):g.14512_14513delinsAT chr17 7519182 7519184 TP53_g.13150_13151delinsTT - X54156.1(TP53):g.13150_13151delinsTT chr17 7518233 7518235 TP53_g.14098_14099delinsAA - X54156.1(TP53):g.14098_14099delinsAA chr17 7517763 7517764 TP53_g.14568C>G - X54156.1(TP53):g.14568C>G chr17 7519199 7519201 TP53_g.13133_13134delinsTT - X54156.1(TP53):g.13133_13134delinsTT chr17 7519248 7519250 TP53_g.13084_13085delinsTT - X54156.1(TP53):g.13084_13085delinsTT chr17 7518255 7518257 TP53_g.14076_14077delinsTG - X54156.1(TP53):g.14076_14077delinsTG chr17 7519123 7519125 TP53_g.13209_13210delinsTT - X54156.1(TP53):g.13209_13210delinsTT chr17 7518340 7518341 TP53_g.13992T>A - X54156.1(TP53):g.13992T>A chr17 7518224 7518225 TP53_g.14108A>T - X54156.1(TP53):g.14108A>T chr17 7517703 7517704 TP53_g.14628del - X54156.1(TP53):g.14628del chr17 7517588 7517589 TP53_g.14743T>C - X54156.1(TP53):g.14743T>C chr17 7520278 7520279 TP53_g.12057C>T - X54156.1(TP53):g.12057C>T chr17 7520063 7520064 TP53_g.12272T>C - X54156.1(TP53):g.12272T>C chr17 7520273 7520275 TP53_g.12061_12062del - X54156.1(TP53):g.12061_12062del chr17 7518951 7518952 TP53_g.13382G>T - X54156.1(TP53):g.13382G>T chr17 7519273 7519275 TP53_g.13059_13060delinsTT - X54156.1(TP53):g.13059_13060delinsTT chr17 7518908 7518910 TP53_g.13424_13425delinsTT - X54156.1(TP53):g.13424_13425delinsTT chr17 7519229 7519231 TP53_g.13103_13104delinsTT - X54156.1(TP53):g.13103_13104delinsTT chr17 7520147 7520149 TP53_g.12187_12188delinsTT - X54156.1(TP53):g.12187_12188delinsTT chr17 7519134 7519135 TP53_g.13199A>C - X54156.1(TP53):g.13199A>C chr17 7519122 7519124 TP53_g.13210_13211delinsTT - X54156.1(TP53):g.13210_13211delinsTT chr17 7519123 7519125 TP53_g.13209_13210delinsAT - X54156.1(TP53):g.13209_13210delinsAT chr17 7518222 7518224 TP53_g.14109_14110delinsAA - X54156.1(TP53):g.14109_14110delinsAA chr17 7519095 7519096 TP53_g.13238G>C - X54156.1(TP53):g.13238G>C chr17 7518946 7518954 TP53_g.13380_13387del - X54156.1(TP53):g.13380_13387del chr17 7520148 7520149 TP53_g.12187C>T - X54156.1(TP53):g.12187C>T chr17 7520135 7520136 TP53_g.12200C>T - X54156.1(TP53):g.12200C>T chr17 7520045 7520046 TP53_g.12290G>C - X54156.1(TP53):g.12290G>C chr17 7520159 7520161 TP53_g.12175_12176delinsTT - X54156.1(TP53):g.12175_12176delinsTT chr17 7518237 7518261 TP53_g.14072_14095del - X54156.1(TP53):g.14072_14095del chr17 7518982 7519009 TP53_g.13325_13351del - X54156.1(TP53):g.13325_13351del chr17 7517825 7517827 TP53_g.14505_14506delinsAA - X54156.1(TP53):g.14505_14506delinsAA chr17 7519173 7519175 TP53_g.13159_13160delinsAA - X54156.1(TP53):g.13159_13160delinsAA chr17 7518274 7518275 TP53_g.14058del - X54156.1(TP53):g.14058del chr17 7520223 7520224 TP53_g.12112C>T - X54156.1(TP53):g.12112C>T chr17 7520100 7520101 TP53_g.12235A>T - X54156.1(TP53):g.12235A>T chr17 7517608 7517609 TP53_g.14723A>G - X54156.1(TP53):g.14723A>G chr17 7520303 7520304 TP53_g.12032G>T - X54156.1(TP53):g.12032G>T chr17 7519143 7519153 TP53_g.13181_13190del - X54156.1(TP53):g.13181_13190del chr17 7518246 7518247 TP53_g.14086C>G - X54156.1(TP53):g.14086C>G chr17 7519168 7519171 TP53_g.13163_13165delinsGTT - X54156.1(TP53):g.13163_13165delinsGTT chr17 7519084 7519085 TP53_g.13249G>T - X54156.1(TP53):g.13249G>T chr17 7519058 7519059 TP53_g.13275T>G - X54156.1(TP53):g.13275T>G chr17 7518261 7518264 TP53_g.14069_14071delinsTGC - X54156.1(TP53):g.14069_14071delinsTGC chr17 7518916 7518918 TP53_g.13416_13417delinsTT - X54156.1(TP53):g.13416_13417delinsTT chr17 7520423 7520424 TP53_g.11928G>A - X54156.1(TP53):g.11928G>A chr17 7519235 7519237 TP53_g.13097_13098ins1 - X54156.1(TP53):g.13097_13098ins1 chr17 7519150 7519152 TP53_g.13182_13183ins1 - X54156.1(TP53):g.13182_13183ins1 chr17 7519238 7519239 TP53_g.13095del - X54156.1(TP53):g.13095del chr17 7519151 7519153 TP53_g.13181_13182ins1 - X54156.1(TP53):g.13181_13182ins1 chr17 7517871 7517872 TP53_g.14460del - X54156.1(TP53):g.14460del chr17 7520136 7520137 TP53_g.12199C>T - X54156.1(TP53):g.12199C>T chr17 7518969 7518971 TP53_g.13363_13364delinsTT - X54156.1(TP53):g.13363_13364delinsTT chr17 7518967 7518968 TP53_g.13366del - X54156.1(TP53):g.13366del chr17 7520551 7520552 TP53_g.11802C>T - X54156.1(TP53):g.11802C>T chr17 7518906 7518907 TP53_g.13427del - X54156.1(TP53):g.13427del chr17 7520271 7520273 TP53_g.12063_12064delinsTT - X54156.1(TP53):g.12063_12064delinsTT chr17 7518328 7518330 TP53_g.14003_14004delinsAA - X54156.1(TP53):g.14003_14004delinsAA chr17 7517761 7517763 TP53_g.14569_14570delinsTT - X54156.1(TP53):g.14569_14570delinsTT chr17 7518284 7518286 TP53_g.14047_14048delinsCC - X54156.1(TP53):g.14047_14048delinsCC chr17 7517789 7517790 TP53_g.14542G>T - X54156.1(TP53):g.14542G>T chr17 7519115 7519117 TP53_g.13217_13218ins2 - X54156.1(TP53):g.13217_13218ins2 chr17 7517753 7517755 TP53_g.14577_14578ins1 - X54156.1(TP53):g.14577_14578ins1 chr17 7518232 7518234 TP53_g.14099_14100ins1 - X54156.1(TP53):g.14099_14100ins1 chr17 7518306 7518307 TP53_g.14026del - X54156.1(TP53):g.14026del chr17 7518297 7518299 TP53_g.14034_14035ins1 - X54156.1(TP53):g.14034_14035ins1 chr17 7517847 7517851 TP53_g.14481_14484del - X54156.1(TP53):g.14481_14484del chr17 7518987 7518992 TP53_g.13342_13346del - X54156.1(TP53):g.13342_13346del chr17 7520163 7520164 TP53_g.12172C>A - X54156.1(TP53):g.12172C>A chr17 7519239 7519240 TP53_g.13094A>T - X54156.1(TP53):g.13094A>T chr17 7520205 7520206 TP53_g.12130C>T - X54156.1(TP53):g.12130C>T chr17 7520127 7520128 TP53_g.12208C>T - X54156.1(TP53):g.12208C>T chr17 7517602 7517603 TP53_g.14729T>C - X54156.1(TP53):g.14729T>C chr17 7520147 7520177 TP53_g.12159_12188del - X54156.1(TP53):g.12159_12188del chr17 7517810 7517811 TP53_g.14521A>C - X54156.1(TP53):g.14521A>C chr17 7519200 7519202 TP53_g.13132_13133delinsT - X54156.1(TP53):g.13132_13133delinsT chr17 7520074 7520075 TP53_g.12261T>C - X54156.1(TP53):g.12261T>C chr17 7520206 7520207 TP53_g.12129G>A - X54156.1(TP53):g.12129G>A chr17 7517591 7517592 TP53_g.14740T>C - X54156.1(TP53):g.14740T>C chr17 7517859 7517860 TP53_g.14472A>T - X54156.1(TP53):g.14472A>T chr17 7514701 7514702 TP53_g.17628del - X54156.1(TP53):g.17628del chr17 7517577 7517579 TP53_g.14753_14754ins1 - X54156.1(TP53):g.14753_14754ins1 chr17 7518344 7518345 TP53_g.13988G>T - X54156.1(TP53):g.13988G>T chr17 7518225 7518227 TP53_g.14106_14107ins1 - X54156.1(TP53):g.14106_14107ins1 chr17 7518914 7518952 TP53_g.13382_13419del - X54156.1(TP53):g.13382_13419del chr17 7518904 7518905 TP53_g.13429T>C - X54156.1(TP53):g.13429T>C chr17 7514667 7514668 TP53_g.17662del - X54156.1(TP53):g.17662del chr17 7520055 7520056 TP53_g.12280C>A - X54156.1(TP53):g.12280C>A chr17 7520176 7520178 TP53_g.12158_12159delinsGA - X54156.1(TP53):g.12158_12159delinsGA chr17 7518229 7518230 TP53_g.14103del - X54156.1(TP53):g.14103del chr17 7519149 7519159 TP53_g.13175_13184del - X54156.1(TP53):g.13175_13184del chr17 7517936 7517937 TP53_g.14395A>G - X54156.1(TP53):g.14395A>G chr17 7518278 7518290 TP53_g.14043_14054del - X54156.1(TP53):g.14043_14054del chr17 7518918 7518919 TP53_g.13415C>A - X54156.1(TP53):g.13415C>A chr17 7518995 7519003 TP53_g.13331_13338del - X54156.1(TP53):g.13331_13338del chr17 7520618 7520619 TP53_g.11735G>C - X54156.1(TP53):g.11735G>C chr17 7517806 7517808 TP53_g.14524_14525delinsAA - X54156.1(TP53):g.14524_14525delinsAA chr17 7520099 7520100 TP53_g.12236del - X54156.1(TP53):g.12236del chr17 7519189 7519213 TP53_g.13121_13144del - X54156.1(TP53):g.13121_13144del chr17 7519177 7519179 TP53_g.13155_13156delinsTT - X54156.1(TP53):g.13155_13156delinsTT chr17 7519119 7519121 TP53_g.13213_13214delinsAT - X54156.1(TP53):g.13213_13214delinsAT chr17 7520060 7520061 TP53_g.12275G>T - X54156.1(TP53):g.12275G>T chr17 7519219 7519220 TP53_g.13114G>T - X54156.1(TP53):g.13114G>T chr17 7517593 7517594 TP53_g.14738A>G - X54156.1(TP53):g.14738A>G chr17 7519240 7519242 TP53_g.13092_13093delinsTT - X54156.1(TP53):g.13092_13093delinsTT chr17 7519146 7519147 TP53_g.13187A>G - X54156.1(TP53):g.13187A>G chr17 7520172 7520173 TP53_g.12163C>T - X54156.1(TP53):g.12163C>T chr17 7520098 7520099 TP53_g.12237del - X54156.1(TP53):g.12237del chr17 7517583 7517584 TP53_g.14748C>A - X54156.1(TP53):g.14748C>A chr17 7517621 7517623 TP53_g.14709_14710delinsTT - X54156.1(TP53):g.14709_14710delinsTT chr17 7518919 7518925 TP53_g.13409_13414del - X54156.1(TP53):g.13409_13414del chr17 7518263 7518265 TP53_g.14068_14069delinsGT - X54156.1(TP53):g.14068_14069delinsGT chr17 7519201 7519203 TP53_g.13131_13132delinsTT - X54156.1(TP53):g.13131_13132delinsTT chr17 7519125 7519128 TP53_g.13206_13208delinsTTT - X54156.1(TP53):g.13206_13208delinsTTT chr17 7519167 7519169 TP53_g.13165_13166delinsTC - X54156.1(TP53):g.13165_13166delinsTC chr17 7517795 7517796 TP53_g.14536C>G - X54156.1(TP53):g.14536C>G chr17 7520235 7520237 TP53_g.12099_12100delinsAA - X54156.1(TP53):g.12099_12100delinsAA chr17 7519094 7519096 TP53_g.13238_13239delinsAA - X54156.1(TP53):g.13238_13239delinsAA chr17 7520173 7520174 TP53_g.12162C>T - X54156.1(TP53):g.12162C>T chr17 7517598 7517599 TP53_g.14733T>A - X54156.1(TP53):g.14733T>A chr17 7518299 7518301 TP53_g.14032_14033delinsTG - X54156.1(TP53):g.14032_14033delinsTG chr17 7518240 7518242 TP53_g.14091_14092delinsAT - X54156.1(TP53):g.14091_14092delinsAT chr17 7519146 7519148 TP53_g.13186_13187delinsTT - X54156.1(TP53):g.13186_13187delinsTT chr17 7517837 7517846 TP53_g.14486_14494del - X54156.1(TP53):g.14486_14494del chr17 7517778 7517779 TP53_g.14553C>A - X54156.1(TP53):g.14553C>A chr17 7518940 7518941 TP53_g.13393T>A - X54156.1(TP53):g.13393T>A chr17 7518300 7518301 TP53_g.14032C>T - X54156.1(TP53):g.14032C>T chr17 7518915 7518919 TP53_g.13415_13418del - X54156.1(TP53):g.13415_13418del chr17 7518905 7518906 TP53_g.13428C>G - X54156.1(TP53):g.13428C>G chr17 7519129 7519130 TP53_g.13204C>A - X54156.1(TP53):g.13204C>A chr17 7517840 7517841 TP53_g.14491T>G - X54156.1(TP53):g.14491T>G chr17 7518282 7518283 TP53_g.14050C>T - X54156.1(TP53):g.14050C>T chr17 7519198 7519199 TP53_g.13135G>C - X54156.1(TP53):g.13135G>C chr17 7519227 7519228 TP53_g.13106G>C - X54156.1(TP53):g.13106G>C chr17 7517758 7517759 TP53_g.14573G>A - X54156.1(TP53):g.14573G>A chr17 7518977 7518978 TP53_g.13356G>C - X54156.1(TP53):g.13356G>C chr17 7520081 7520096 TP53_g.12240_12254del - X54156.1(TP53):g.12240_12254del chr17 7519234 7519235 TP53_g.13099C>A - X54156.1(TP53):g.13099C>A chr17 7518934 7518955 TP53_g.13379_13399del - X54156.1(TP53):g.13379_13399del chr17 7520299 7520300 TP53_g.12036del - X54156.1(TP53):g.12036del chr17 7519245 7519249 TP53_g.13085_13088del - X54156.1(TP53):g.13085_13088del chr17 7518933 7518935 TP53_g.13399_13400ins1 - X54156.1(TP53):g.13399_13400ins1 chr17 7519264 7519266 TP53_g.13068_13069ins42 - X54156.1(TP53):g.13068_13069ins42 chr17 7520239 7520252 TP53_g.12084_12096del - X54156.1(TP53):g.12084_12096del chr17 7518939 7518964 TP53_g.13370_13394del - X54156.1(TP53):g.13370_13394del chr17 7520206 7520207 TP53_g.12129del - X54156.1(TP53):g.12129del chr17 7519236 7519238 TP53_g.13096_13097ins1 - X54156.1(TP53):g.13096_13097ins1 chr17 7518245 7518246 TP53_g.14087A>C - X54156.1(TP53):g.14087A>C chr17 7519277 7519278 TP53_g.13056A>T - X54156.1(TP53):g.13056A>T chr17 7518865 7518905 TP53_g.13429_13468del - X54156.1(TP53):g.13429_13468del chr17 7518901 7518910 TP53_g.13424_13432del - X54156.1(TP53):g.13424_13432del chr17 7520198 7520199 TP53_g.12137C>T - X54156.1(TP53):g.12137C>T chr17 7519264 7519267 TP53_g.13067_13069del - X54156.1(TP53):g.13067_13069del chr17 7518267 7518294 TP53_g.14039_14065del - X54156.1(TP53):g.14039_14065del chr17 7517850 7517858 TP53_g.14474_14481del - X54156.1(TP53):g.14474_14481del chr17 7518969 7518971 TP53_g.13363_13364ins1 - X54156.1(TP53):g.13363_13364ins1 chr17 7518304 7518306 TP53_g.14027_14028del - X54156.1(TP53):g.14027_14028del chr17 7520197 7520199 TP53_g.12137_12138ins1 - X54156.1(TP53):g.12137_12138ins1 chr17 7520101 7520103 TP53_g.12233_12234delinsAT - X54156.1(TP53):g.12233_12234delinsAT chr17 7519172 7519174 TP53_g.13160_13161del - X54156.1(TP53):g.13160_13161del chr17 7518293 7518295 TP53_g.14038_14039ins3 - X54156.1(TP53):g.14038_14039ins3 chr17 7518274 7518276 TP53_g.14057_14058del - X54156.1(TP53):g.14057_14058del chr17 7518260 7518262 TP53_g.14071_14072ins13 - X54156.1(TP53):g.14071_14072ins13 chr17 7518251 7518253 TP53_g.14080_14081ins4 - X54156.1(TP53):g.14080_14081ins4 chr17 7518282 7518283 TP53_g.14050C>A - X54156.1(TP53):g.14050C>A chr17 7519179 7519183 TP53_g.13151_13154del - X54156.1(TP53):g.13151_13154del chr17 7518224 7518226 TP53_g.14107_14108ins4 - X54156.1(TP53):g.14107_14108ins4 chr17 7517803 7517816 TP53_g.14516_14528del - X54156.1(TP53):g.14516_14528del chr17 7518930 7518932 TP53_g.13402_13403ins3 - X54156.1(TP53):g.13402_13403ins3 chr17 7517766 7517767 TP53_g.14565T>A - X54156.1(TP53):g.14565T>A chr17 7518249 7518258 TP53_g.14075_14083del - X54156.1(TP53):g.14075_14083del chr17 7520200 7520201 TP53_g.12135C>A - X54156.1(TP53):g.12135C>A chr17 7519180 7519186 TP53_g.13148_13153del - X54156.1(TP53):g.13148_13153del chr17 7518952 7518953 TP53_g.13381T>A - X54156.1(TP53):g.13381T>A chr17 7519158 7519160 TP53_g.13174_13175ins9 - X54156.1(TP53):g.13174_13175ins9 chr17 7520117 7520118 TP53_g.12218T>A - X54156.1(TP53):g.12218T>A chr17 7517815 7517816 TP53_g.14516C>A - X54156.1(TP53):g.14516C>A chr17 7519135 7519204 TP53_g.13130_13198del - X54156.1(TP53):g.13130_13198del chr17 7519180 7519181 TP53_g.13153C>G - X54156.1(TP53):g.13153C>G chr17 7519135 7519136 TP53_g.13198G>C - X54156.1(TP53):g.13198G>C chr17 7518904 7518905 TP53_g.13429T>A - X54156.1(TP53):g.13429T>A chr17 7518903 7518905 TP53_g.13429_13430ins1 - X54156.1(TP53):g.13429_13430ins1 chr17 7519010 7519011 TP53_g.13323T>C - X54156.1(TP53):g.13323T>C chr17 7517600 7517601 TP53_g.14731G>T - X54156.1(TP53):g.14731G>T chr17 7519161 7519163 TP53_g.13171_13172delinsTT - X54156.1(TP53):g.13171_13172delinsTT chr17 7518243 7518244 TP53_g.14089C>A - X54156.1(TP53):g.14089C>A chr17 7520211 7520212 TP53_g.12124C>G - X54156.1(TP53):g.12124C>G chr17 7519070 7519071 TP53_g.13263G>A - X54156.1(TP53):g.13263G>A chr17 7518958 7518961 TP53_g.13373_13375del - X54156.1(TP53):g.13373_13375del chr17 7519239 7519246 TP53_g.13088_13094del - X54156.1(TP53):g.13088_13094del chr17 7518900 7518904 TP53_g.13430_13433del - X54156.1(TP53):g.13430_13433del chr17 7517817 7517819 TP53_g.14513_14514delinsTA - X54156.1(TP53):g.14513_14514delinsTA chr17 7518906 7518907 TP53_g.13427C>G - X54156.1(TP53):g.13427C>G chr17 7519142 7519143 TP53_g.13191A>C - X54156.1(TP53):g.13191A>C chr17 7517588 7517589 TP53_g.14743T>G - X54156.1(TP53):g.14743T>G chr17 7518252 7518253 TP53_g.14080C>T - X54156.1(TP53):g.14080C>T chr17 7517843 7517844 TP53_g.14488T>A - X54156.1(TP53):g.14488T>A chr17 7517775 7517777 TP53_g.14555_14556delinsTG - X54156.1(TP53):g.14555_14556delinsTG chr17 7517759 7517760 TP53_g.14572A>T - X54156.1(TP53):g.14572A>T chr17 7519101 7519103 TP53_g.13231_13232ins2 - X54156.1(TP53):g.13231_13232ins2 chr17 7520257 7520259 TP53_g.12077_12078ins3 - X54156.1(TP53):g.12077_12078ins3 chr17 7517754 7517755 TP53_g.14577G>T - X54156.1(TP53):g.14577G>T chr17 7518282 7518284 TP53_g.14049_14050del - X54156.1(TP53):g.14049_14050del chr17 7517845 7517855 TP53_g.14477_14486del - X54156.1(TP53):g.14477_14486del chr17 7518257 7518259 TP53_g.14074_14075ins3 - X54156.1(TP53):g.14074_14075ins3 chr17 7518982 7518983 TP53_g.13351G>T - X54156.1(TP53):g.13351G>T chr17 7519246 7519252 TP53_g.13082_13087del - X54156.1(TP53):g.13082_13087del chr17 7519083 7519084 TP53_g.13250G>A - X54156.1(TP53):g.13250G>A chr17 7518327 7518328 TP53_g.14005C>G - X54156.1(TP53):g.14005C>G chr17 7518349 7518350 TP53_g.13983C>T - X54156.1(TP53):g.13983C>T chr17 7519168 7519169 TP53_g.13165C>A - X54156.1(TP53):g.13165C>A chr17 7519123 7519124 TP53_g.13210C>A - X54156.1(TP53):g.13210C>A chr17 7519191 7519193 TP53_g.13141_13142ins2 - X54156.1(TP53):g.13141_13142ins2 chr17 7519211 7519212 TP53_g.13122A>C - X54156.1(TP53):g.13122A>C chr17 7518308 7518309 TP53_g.14024C>G - X54156.1(TP53):g.14024C>G chr17 7519138 7519139 TP53_g.13195T>A - X54156.1(TP53):g.13195T>A chr17 7519136 7519138 TP53_g.13196_13197delinsTG - X54156.1(TP53):g.13196_13197delinsTG chr17 7519181 7519198 TP53_g.13136_13152del - X54156.1(TP53):g.13136_13152del chr17 7518910 7518911 TP53_g.13423G>T - X54156.1(TP53):g.13423G>T chr17 7518246 7518270 TP53_g.14063_14086del - X54156.1(TP53):g.14063_14086del chr17 7519155 7519157 TP53_g.13177_13178ins3 - X54156.1(TP53):g.13177_13178ins3 chr17 7518300 7518301 TP53_g.14032del - X54156.1(TP53):g.14032del chr17 7519145 7519146 TP53_g.13188C>A - X54156.1(TP53):g.13188C>A chr17 7519127 7519128 TP53_g.13206del - X54156.1(TP53):g.13206del chr17 7519143 7519145 TP53_g.13189_13190del - X54156.1(TP53):g.13189_13190del chr17 7518950 7518951 TP53_g.13383del - X54156.1(TP53):g.13383del chr17 7518284 7518286 TP53_g.14047_14048ins2 - X54156.1(TP53):g.14047_14048ins2 chr17 7517745 7517746 TP53_g.14586G>C - X54156.1(TP53):g.14586G>C chr17 7519232 7519234 TP53_g.13100_13101ins1 - X54156.1(TP53):g.13100_13101ins1 chr17 7518922 7518925 TP53_g.13409_13411delinsATA - X54156.1(TP53):g.13409_13411delinsATA chr17 7517799 7517800 TP53_g.14532A>C - X54156.1(TP53):g.14532A>C chr17 7517804 7517834 TP53_g.14498_14527del - X54156.1(TP53):g.14498_14527del chr17 7519135 7519138 TP53_g.13196_13198del - X54156.1(TP53):g.13196_13198del chr17 7517844 7517846 TP53_g.14486_14487del - X54156.1(TP53):g.14486_14487del chr17 7518979 7518980 TP53_g.13354A>T - X54156.1(TP53):g.13354A>T chr17 7518957 7518958 TP53_g.13376T>A - X54156.1(TP53):g.13376T>A chr17 7518958 7518959 TP53_g.13375T>C - X54156.1(TP53):g.13375T>C chr17 7517743 7517747 TP53_g.14585_14588del - X54156.1(TP53):g.14585_14588del chr17 7520301 7520302 TP53_g.12034del - X54156.1(TP53):g.12034del chr17 7517793 7517795 TP53_g.14537_14538ins33 - X54156.1(TP53):g.14537_14538ins33 chr17 7517864 7517866 TP53_g.14466_14467ins1 - X54156.1(TP53):g.14466_14467ins1 chr17 7518270 7518272 TP53_g.14061_14062del - X54156.1(TP53):g.14061_14062del chr17 7519181 7519183 TP53_g.13151_13152delinsTT - X54156.1(TP53):g.13151_13152delinsTT chr17 7519176 7519191 TP53_g.13143_13157del - X54156.1(TP53):g.13143_13157del chr17 7519271 7519279 TP53_g.13055_13062del - X54156.1(TP53):g.13055_13062del chr17 7517634 7517635 TP53_g.14697C>T - X54156.1(TP53):g.14697C>T chr17 7518999 7519011 TP53_g.13323_13334del - X54156.1(TP53):g.13323_13334del chr17 7517852 7517853 TP53_g.14479del - X54156.1(TP53):g.14479del chr17 7519178 7519180 TP53_g.13154_13155delinsTT - X54156.1(TP53):g.13154_13155delinsTT chr17 7517861 7517874 TP53_g.14458_14470del - X54156.1(TP53):g.14458_14470del chr17 7519139 7519141 TP53_g.13193_13194ins7 - X54156.1(TP53):g.13193_13194ins7 chr17 7517880 7518223 TP53_g.14110_14451del - X54156.1(TP53):g.14110_14451del chr17 7519181 7519183 TP53_g.13151_13152delinsTA - X54156.1(TP53):g.13151_13152delinsTA chr17 7519218 7519219 TP53_g.13115T>A - X54156.1(TP53):g.13115T>A chr17 7519107 7519126 TP53_g.13208_13226del - X54156.1(TP53):g.13208_13226del chr17 7518981 7519006 TP53_g.13328_13352del - X54156.1(TP53):g.13328_13352del chr17 7517807 7517808 TP53_g.14524G>C - X54156.1(TP53):g.14524G>C chr17 7517628 7517629 TP53_g.14703C>T - X54156.1(TP53):g.14703C>T chr17 7519198 7519204 TP53_g.13130_13135del - X54156.1(TP53):g.13130_13135del chr17 7519126 7519132 TP53_g.13202_13207del - X54156.1(TP53):g.13202_13207del chr17 7520078 7520090 TP53_g.12246_12257delinsATTCAG - X54156.1(TP53):g.12246_12257delinsATTCAG chr17 7519018 7519029 TP53_g.13305_13315del - X54156.1(TP53):g.13305_13315del chr17 7519242 7519243 TP53_g.13091G>T - X54156.1(TP53):g.13091G>T chr17 7517596 7517597 TP53_g.14735G>T - X54156.1(TP53):g.14735G>T chr17 7518928 7518929 TP53_g.13405del - X54156.1(TP53):g.13405del chr17 7519001 7519003 TP53_g.13331_13332del - X54156.1(TP53):g.13331_13332del chr17 7518930 7518932 TP53_g.13402_13403ins6 - X54156.1(TP53):g.13402_13403ins6 chr17 7518252 7518253 TP53_g.14080C>G - X54156.1(TP53):g.14080C>G chr17 7518371 7518372 TP53_g.13961G>A - X54156.1(TP53):g.13961G>A chr17 7519279 7519281 TP53_g.13053_13054ins1 - X54156.1(TP53):g.13053_13054ins1 chr17 7518835 7518837 TP53_g.13497_13498ins2 - X54156.1(TP53):g.13497_13498ins2 chr17 7518368 7518369 TP53_g.13964G>C - X54156.1(TP53):g.13964G>C chr17 7520392 7520562 TP53_g.11792_11958del - X54156.1(TP53):g.11792_11958del chr17 7520140 7520141 TP53_g.12195del - X54156.1(TP53):g.12195del chr17 7517811 7517819 TP53_g.14513_14520del - X54156.1(TP53):g.14513_14520del chr17 7517576 7517577 TP53_g.14755del - X54156.1(TP53):g.14755del chr17 7520562 7520563 TP53_g.11791G>T - X54156.1(TP53):g.11791G>T chr17 7518945 7518946 TP53_g.13388A>T - X54156.1(TP53):g.13388A>T chr17 7519172 7519174 TP53_g.13160_13161ins7 - X54156.1(TP53):g.13160_13161ins7 chr17 7518949 7518956 TP53_g.13378_13384del - X54156.1(TP53):g.13378_13384del chr17 7519014 7519025 TP53_g.13309_13319del - X54156.1(TP53):g.13309_13319del chr17 7517763 7517765 TP53_g.14567_14568ins4 - X54156.1(TP53):g.14567_14568ins4 chr17 7517619 7517620 TP53_g.14712G>C - X54156.1(TP53):g.14712G>C chr17 7517609 7517610 TP53_g.14722A>G - X54156.1(TP53):g.14722A>G chr6 30019205 30019208 VAR_004351 + P04439:p.Glu176Val chr6 30019217 30019220 VAR_004352 + P04439:p.Leu180Gln chr6 30019232 30019235 VAR_016604 + P04439:p.Asp185Glu chr6 30019235 30019238 VAR_033149 + P04439:p.Gly186Ala chr6 30019274 30019277 VAR_016605 + P04439:p.Gly199Arg chr11 44055976 44055979 VAR_038685 + Q96QU6:p.Gly221Glu chr11 44061359 44061362 VAR_038686 + Q96QU6:p.Ser393Leu chr11 44061555 44061558 VAR_038687 + Q96QU6:p.Pro421Leu chr6 31432501 31432510 VAR_016351 - P01889:p.Ala93_Ala95delinsThrAsnThr chr6 31432184 31432190 VAR_016352 - P01889:p.Thr118_Leu119delinsIleIle chr6 31432178 31432181 VAR_016353 - P01889:p.Ser121Arg chr6 31432127 31432130 VAR_016354 - P01889:p.Asp138Asn chr6 31432001 31432004 VAR_016355 - P01889:p.Arg180Asp chr6 31431980 31431983 VAR_016616 - P01889:p.Glu187Leu chr6 31430956 31430959 VAR_016356 - P01889:p.Val306Ile chr6 31347427 31347430 VAR_016590 - P10321:p.Lys90Asn chr6 31347394 31347397 VAR_016591 - P10321:p.Ser101Asn chr6 31347385 31347388 VAR_016592 - P10321:p.Asn104Lys chr6 31347090 31347093 VAR_016593 - P10321:p.Leu119Phe chr6 31347078 31347081 VAR_016594 - P10321:p.Ser123Tyr chr6 31347027 31347030 VAR_016595 - P10321:p.Ser140Phe chr6 31346934 31346937 VAR_016646 - P10321:p.Leu171Trp chr6 31346907 31346910 VAR_016596 - P10321:p.Leu180Asp chr6 31346886 31346889 VAR_016647 - P10321:p.Thr187Leu chr6 31346844 31346847 VAR_016597 - P10321:p.Glu201Lys chr6 31345743 31345746 VAR_016598 - P10321:p.Met331Lys chr6 31345252 31345255 VAR_016599 - P10321:p.Ala348Val chr6 31345100 31345103 VAR_016600 - P10321:p.Thr363Ala chr11 111142271 111142274 VAR_022895 - P30154:p.Gly8Arg chr11 111142250 111142253 VAR_022896 - P30154:p.Gly15Ala chr11 111141237 111141240 VAR_022897 - P30154:p.Pro65Ser chr11 111140774 111140777 VAR_006384 - P30154:p.Gly90Asp chr11 111140741 111140744 VAR_022898 - P30154:p.Leu101Pro chr11 111130432 111130435 VAR_022899 - P30154:p.Lys343Glu chr11 111129445 111129448 VAR_022900 - P30154:p.Ser365Pro chr11 111123942 111123945 VAR_022901 - P30154:p.Val448Ala chr11 111119369 111119372 VAR_022902 - P30154:p.Val498Glu chr11 111119366 111119369 VAR_022903 - P30154:p.Leu499Ile chr11 111119363 111119366 VAR_022904 - P30154:p.Val500Gly chr11 111119351 111119354 VAR_022905 - P30154:p.Asp504Gly chr11 111118518 111118521 VAR_022906 - P30154:p.Val545Ala chr6 32665458 32665461 VAR_033377 - P04229:p.Thr13Ala chr6 32665398 32665401 VAR_033379 - P04229:p.Arg33Lys chr6 32665398 32665401 VAR_033380 - P04229:p.Arg33Gln chr6 32660116 32660119 VAR_016740 - P04229:p.Gln39Glu chr6 32660035 32660038 VAR_033381 - P04229:p.Ser66Tyr chr6 32660011 32660014 VAR_016741 - P04229:p.Gly74Arg chr6 32659966 32659969 VAR_033383 - P04229:p.Tyr89Ser chr6 32659936 32659939 VAR_016711 - P04229:p.Gln99Asp chr6 32659936 32659939 VAR_033384 - P04229:p.Gln99Glu chr6 32659936 32659939 VAR_033385 - P04229:p.Gln99His chr6 32659927 32659930 VAR_033386 - P04229:p.Ala102Gly chr6 32659924 32659927 VAR_033387 - P04229:p.Ala103Glu chr6 32659915 32659918 VAR_016713 - P04229:p.Thr106Asn chr6 32659912 32659915 VAR_033388 - P04229:p.Tyr107His chr6 32659891 32659894 VAR_016714 - P04229:p.Val114Ala chr6 32657471 32657474 VAR_033389 - P04229:p.Gly164Asp chr6 32657456 32657459 VAR_033390 - P04229:p.Ala169Thr chr6 32657429 32657432 VAR_033392 - P04229:p.Gln178His chr6 32657378 32657381 VAR_033393 - P04229:p.Arg195Gln chr6 32657333 32657336 VAR_033394 - P04229:p.Thr210Ile chr6 32656555 32656558 VAR_033395 - P04229:p.Val236Met chr6 32656504 32656507 VAR_016716 - P04229:p.Gln253Glu chr6_hla_hap1 65459 65462 VAR_016686 - P79483:p.Arg40Cys chr6_hla_hap1 65273 65276 VAR_033396 - P79483:p.Gly102Ala chr6_hla_hap1 65237 65240 VAR_033397 - P79483:p.Val114Ala chr6_hla_hap1 61913 61916 VAR_033398 - P79483:p.Val236Met chr6 33014640 33014643 VAR_016752 - P28068:p.Ser45Phe chr6 33013062 33013065 VAR_016753 - P28068:p.Ala162Glu chr6 33013062 33013065 VAR_016754 - P28068:p.Ala162Val chr6 32892652 32892655 VAR_016743 - P13765:p.Arg18Gln chr6 32889529 32889532 VAR_016745 - P13765:p.Leu234Phe chr6 32889499 32889502 VAR_016744 - P13765:p.Val244Ile chr6 32515750 32515753 VAR_035241 + P01903:p.Val16Leu chr1 119766256 119766259 VAR_014174 + P14060:p.Ile79Val chr1 119769043 119769046 VAR_014175 + P14060:p.Phe286Leu chr1 119769286 119769289 VAR_000005 + P14060:p.Thr367Asn chr1 119670111 119670114 VAR_010517 + P26439:p.Ala10Glu chr1 119670111 119670114 VAR_010518 + P26439:p.Ala10Val chr1 119670126 119670129 VAR_010519 + P26439:p.Gly15Asp chr1 119674183 119674186 VAR_010520 + P26439:p.Ala82Thr chr1 119674219 119674222 VAR_014818 + P26439:p.Glu94Gln chr1 119674237 119674240 VAR_010521 + P26439:p.Asn100Ser chr1 119676487 119676490 VAR_010522 + P26439:p.Leu108Trp chr1 119676550 119676553 VAR_010523 + P26439:p.Gly129Arg chr1 119676589 119676592 VAR_000006 + P26439:p.Glu142Lys chr1 119676628 119676631 VAR_010524 + P26439:p.Pro155Leu chr1 119676664 119676667 VAR_010525 + P26439:p.Ala167Val chr1 119676682 119676685 VAR_010526 + P26439:p.Leu173Arg chr1 119676721 119676724 VAR_010527 + P26439:p.Pro186Leu chr1 119676778 119676781 VAR_000007 + P26439:p.Leu205Pro chr1 119676802 119676805 VAR_010528 + P26439:p.Ser213Gly chr1 119676811 119676814 VAR_010529 + P26439:p.Lys216Glu chr1 119676829 119676832 VAR_010530 + P26439:p.Pro222His chr1 119676829 119676832 VAR_010531 + P26439:p.Pro222Gln chr1 119676829 119676832 VAR_015411 + P26439:p.Pro222Thr chr1 119676856 119676880 VAR_010532 + P26439:p.231_238del chr1 119676871 119676874 VAR_010533 + P26439:p.Leu236Ser chr1 119676898 119676901 VAR_000008 + P26439:p.Ala245Pro chr1 119676922 119676925 VAR_000009 + P26439:p.Tyr253Asn chr1 119676925 119676928 VAR_000010 + P26439:p.Tyr254Asp chr1 119676940 119676943 VAR_010534 + P26439:p.Thr259Met chr1 119676940 119676943 VAR_000011 + P26439:p.Thr259Arg chr1 119677045 119677048 VAR_010535 + P26439:p.Gly294Val chr16 30906642 30906645 VAR_031040 + Q9H2F3:p.Thr250Ala chr22 36368916 36368919 VAR_019642 + Q9Y3L3:p.Leu431Pro chr22 36371164 36371167 VAR_033450 + Q9Y3L3:p.Pro511Leu chr22 36376050 36376053 VAR_033451 + Q9Y3L3:p.Ser656Phe chr4 2870304 2870307 VAR_013257 + P78314:p.Arg415Pro chr4 2870304 2870307 VAR_013258 + P78314:p.Arg415Gln chr4 2870313 2870316 VAR_013259 + P78314:p.Pro418His chr4 2870313 2870316 VAR_013260 + P78314:p.Pro418Leu chr4 2870313 2870316 VAR_013261 + P78314:p.Pro418Arg chr4 2870319 2870322 VAR_013262 + P78314:p.Gly420Glu chr4 2870319 2870322 VAR_013263 + P78314:p.Gly420Arg chr2 42927352 42927355 VAR_030470 - P46952:p.Thr42Ser chr1 29140628 29140631 VAR_009122 + P11171:p.Val214Ile chr5 63293254 63293257 VAR_003446 - P08908:p.Pro16Leu chr5 63293236 63293239 VAR_011826 - P08908:p.Gly22Ser chr5 63293218 63293221 VAR_011827 - P08908:p.Ile28Val chr5 63292750 63292753 VAR_011828 - P08908:p.Pro184Leu chr5 63292642 63292645 VAR_011829 - P08908:p.Arg220Leu chr5 63292483 63292486 VAR_011830 - P08908:p.Gly273Asp chr6 78229467 78229470 VAR_011715 - P28222:p.Phe124Cys chr6 78229182 78229185 VAR_011831 - P28222:p.Phe219Leu chr6 78228738 78228741 VAR_011832 - P28222:p.Ile367Val chr6 78228717 78228720 VAR_011833 - P28222:p.Glu374Lys chr1 23265223 23265226 VAR_011834 - P28221:p.Ser265Leu chr6 87782392 87782395 VAR_022061 + P28566:p.Ala208Thr chr6 87782554 87782557 VAR_014165 + P28566:p.Ser262Phe chr13 46367967 46367970 VAR_003448 - P28223:p.Thr25Asn chr13 46364547 46364550 VAR_013901 - P28223:p.Ile197Val chr13 46307047 46307050 VAR_013902 - P28223:p.Ala447Val chr13 46307032 46307035 VAR_003449 - P28223:p.His452Tyr chrX 113788713 113788716 VAR_003450 + P28335:p.Cys23Ser chrX 113905661 113905664 VAR_010166 + P28335:p.Ile156Val chrX 113905667 113905670 VAR_010167 + P28335:p.Asn158Ser chrX 113905673 113905676 VAR_010168 + P28335:p.Ile160Val chr11 113353731 113353734 VAR_037398 + P46098:p.Ala33Thr chr11 113362500 113362503 VAR_037399 + P46098:p.Ser253Asn chr11 113362869 113362872 VAR_037400 + P46098:p.Arg344His chr11 113365428 113365431 VAR_037401 + P46098:p.Pro391Arg chr11 113365482 113365485 VAR_037402 + P46098:p.Arg409Gln chr11 113308236 113308239 VAR_037472 + O95264:p.Tyr129Ser chr11 113308278 113308281 VAR_037473 + O95264:p.Ile143Thr chr11 113308317 113308320 VAR_037474 + O95264:p.Ser156Arg chr11 113308875 113308878 VAR_037475 + O95264:p.Val183Ile chr3 185256768 185256771 VAR_037552 + Q8WXA8:p.Val128Met chr3 185257461 185257464 VAR_037476 + Q8WXA8:p.Asn163Lys chr3 185260710 185260713 VAR_037477 + Q8WXA8:p.Gly405Ala chr7 154313554 154313557 VAR_035753 + P47898:p.Arg262Cys chr10 92607132 92607135 VAR_012995 - P34969:p.Thr92Lys chr10 92499033 92499036 VAR_012996 - P34969:p.Pro279Leu chr7 32834167 32834170 VAR_023511 - Q9H0P0:p.Asp137Val chr7 32832488 32832491 VAR_023512 - Q9H0P0:p.Leu181Pro chr7 32830311 32830314 VAR_023513 - Q9H0P0:p.Asn229Ser chr7 32828590 32828593 VAR_023514 - Q9H0P0:p.Gly280Arg chr10 104924696 104924699 VAR_024244 - P49902:p.Thr3Ala chr10 104851054 104851057 VAR_030242 - P49902:p.Gln136Arg chr6 86255951 86255954 VAR_022091 + P21589:p.Thr376Ala chr14 103451252 103451255 VAR_014526 - P56378:p.Ile9Val chr19 54654745 54654748 VAR_037638 + Q8IZ83:p.Glu110Lys chr2 233965367 233965370 VAR_021834 + Q676U5:p.Thr300Ala chr9 114166965 114166968 VAR_013841 + P02763:p.Val174Met chr9 114171849 114171852 VAR_014667 + P19652:p.Arg38Gln chr14 93919315 93919318 VAR_006978 - P01009:p.Ser4Leu chr14 93919249 93919252 VAR_006979 - P01009:p.Asp26Ala chr14 93919153 93919156 VAR_006980 - P01009:p.Ala58Thr chr14 93919138 93919141 VAR_006981 - P01009:p.Arg63Cys chr14 93919132 93919135 VAR_006982 - P01009:p.Leu65Pro chr14 93919120 93919123 VAR_006983 - P01009:p.Ser69Phe chr14 93919102 93919105 VAR_006984 - P01009:p.75del chr14 93919096 93919099 VAR_006985 - P01009:p.Ser77Phe chr14 93919075 93919078 VAR_006986 - P01009:p.Ala84Thr chr14 93919054 93919057 VAR_006987 - P01009:p.Gly91Glu chr14 93919051 93919054 VAR_006988 - P01009:p.Thr92Ile chr14 93919000 93919003 VAR_011620 - P01009:p.Thr109Met chr14 93918991 93918994 VAR_006989 - P01009:p.Pro112Thr chr14 93918979 93918982 VAR_006990 - P01009:p.Ile116Asn chr14 93918952 93918955 VAR_006991 - P01009:p.Arg125His chr14 93918910 93918913 VAR_006992 - P01009:p.Gly139Ser chr14 93918811 93918814 VAR_006993 - P01009:p.Gly172Arg chr14 93918811 93918814 VAR_006994 - P01009:p.Gly172Trp chr14 93918787 93918790 VAR_006995 - P01009:p.Gln180Glu chr14 93918733 93918760 VAR_036746 - P01009:p.Gln190_Lys198delinsGlyPheGlnAsnAlaIleLeuValArg chr14 93917193 93917196 VAR_006996 - P01009:p.Glu228Lys chr14 93917166 93917169 VAR_006997 - P01009:p.Val237Ala chr14 93917136 93917139 VAR_006998 - P01009:p.Arg247Cys chr14 93917037 93917040 VAR_006999 - P01009:p.Asp280Val chr14 93917013 93917016 VAR_007000 - P01009:p.Glu288Val chr14 93916962 93916965 VAR_009216 - P01009:p.305del chr14 93915556 93915559 VAR_007001 - P01009:p.Ser354Phe chr14 93914715 93914718 VAR_007002 - P01009:p.Ala360Thr chr14 93914700 93914703 VAR_007003 - P01009:p.Asp365Asn chr14 93914697 93914700 VAR_007004 - P01009:p.Glu366Lys chr14 93914649 93914652 VAR_007005 - P01009:p.Met382Arg chr14 93914637 93914640 VAR_007006 - P01009:p.Pro386His chr14 93914637 93914640 VAR_007007 - P01009:p.Pro386Thr chr14 93914634 93914637 VAR_007008 - P01009:p.Glu387Lys chr14 93914616 93914619 VAR_007009 - P01009:p.Pro393Leu chr14 93914595 93914598 VAR_007010 - P01009:p.Glu400Asp chr14 93914550 93914553 VAR_007011 - P01009:p.Pro415His chr15 19336210 19336213 VAR_019914 - Q6S5H4:p.His30Asp chr15 19336171 19336174 VAR_019915 - Q6S5H4:p.Met43Val chr15 19336108 19336111 VAR_019916 - Q6S5H4:p.Cys64Trp chr15 19336096 19336099 VAR_019917 - Q6S5H4:p.Cys68Arg chr15 19336069 19336072 VAR_019918 - Q6S5H4:p.Thr77Lys chr15 19336036 19336039 VAR_019919 - Q6S5H4:p.Asn88Asp chr15 19328086 19328089 VAR_019920 - Q6S5H4:p.Gln286Glu chr15 19307166 19307169 VAR_019921 - Q6S5H4:p.Lys511Glu chr15 19305412 19305415 VAR_019922 - Q6S5H4:p.Met535Lys chr15 19305313 19305316 VAR_019923 - Q6S5H4:p.Ala568Val chr17 1595233 1595236 VAR_013252 + P08697:p.Ala27Val chr17 1595251 1595254 VAR_013253 + P08697:p.Arg33Trp chr17 1597366 1597369 VAR_013254 + P08697:p.176del chr17 1604332 1604335 VAR_013255 + P08697:p.Val411Met chr17 1604401 1604404 VAR_013256 + P08697:p.Arg434Lys chr19 4489596 4489599 VAR_024245 - P02750:p.Pro133Ser chr12 9138848 9138851 VAR_000012 - P01023:p.Arg704His chr12 9135087 9135090 VAR_026821 - P01023:p.Leu815Gln chr12 9123616 9123619 VAR_000013 - P01023:p.Cys972Tyr chr22 41414344 41414347 VAR_014296 - Q9NPC4:p.Met37Val chr22 41414215 41414218 VAR_017507 - Q9NPC4:p.80del chr22 41413966 41413969 VAR_022320 - Q9NPC4:p.Gln163Arg chr22 41413906 41413909 VAR_014297 - Q9NPC4:p.Met183Lys chr22 41413894 41413897 VAR_017508 - Q9NPC4:p.Gly187Asp chr22 41413702 41413705 VAR_017509 - Q9NPC4:p.Pro251Leu chr3 139326172 139326175 VAR_022096 - Q9UNA3:p.Ala218Asp chr21 26249895 26249898 VAR_022315 - P05067:p.Glu501Lys chr21 26191824 26191827 VAR_010107 - P05067:p.Glu665Asp chr21 26191806 26191812 VAR_000015 - P05067:p.Lys670_Met671delinsAsnLeu chr21 26186039 26186042 VAR_000016 - P05067:p.Ala692Gly chr21 26186036 26186039 VAR_014215 - P05067:p.Glu693Gly chr21 26186036 26186039 VAR_014216 - P05067:p.Glu693Lys chr21 26186036 26186039 VAR_000017 - P05067:p.Glu693Gln chr21 26186033 26186036 VAR_014217 - P05067:p.Asp694Asn chr21 26186000 26186003 VAR_032276 - P05067:p.Leu705Val chr21 26185976 26185979 VAR_000019 - P05067:p.Ala713Thr chr21 26185976 26185979 VAR_000018 - P05067:p.Ala713Val chr21 26185973 26185976 VAR_032277 - P05067:p.Thr714Ala chr21 26185973 26185976 VAR_014218 - P05067:p.Thr714Ile chr21 26185970 26185973 VAR_010108 - P05067:p.Val715Met chr21 26185967 26185970 VAR_000020 - P05067:p.Ile716Val chr21 26185964 26185967 VAR_000023 - P05067:p.Val717Phe chr21 26185964 26185967 VAR_000022 - P05067:p.Val717Gly chr21 26185964 26185967 VAR_000021 - P05067:p.Val717Ile chr21 26185964 26185967 VAR_014219 - P05067:p.Val717Leu chr21 26185946 26185949 VAR_010109 - P05067:p.Leu723Pro chr1 199866211 199866214 VAR_035754 + P30542:p.Glu170Lys chr22 23154073 23154076 VAR_011835 + P29274:p.Ala50Val chr22 23161669 23161672 VAR_011836 + P29274:p.Arg300His chr22 23161945 23161948 VAR_003451 + P29274:p.Gly392Arg chr1 111757703 111757706 VAR_035755 - P33765:p.Ala105Thr chr19 38398534 38398537 VAR_014282 - Q9NS82:p.Glu112Asp chr12 52001471 52001474 VAR_012804 - Q9NRG9:p.Gln15Lys chr12 51995460 51995463 VAR_037060 - Q9NRG9:p.Lys108Met chr12 51994866 51994869 VAR_012805 - Q9NRG9:p.His160Arg chr12 51989672 51989675 VAR_012806 - Q9NRG9:p.Ser263Pro chr19 51983011 51983014 VAR_020439 - Q15758:p.Pro17Ala chr19 51970696 51970699 VAR_013517 - Q15758:p.Val512Leu chr14 94150555 94150558 VAR_006973 + P01011:p.Ala9Thr chr14 94150762 94150765 VAR_006974 + P01011:p.Leu78Pro chr14 94151029 94151032 VAR_006975 + P01011:p.Ala167Gly chr14 94155394 94155397 VAR_006976 + P01011:p.Pro252Ala chr14 94155439 94155442 VAR_037902 + P01011:p.Lys267Arg chr14 94159832 94159835 VAR_006977 + P01011:p.Met401Val chr14 94159850 94159853 VAR_011742 + P01011:p.Asp407Gly chr2 69695747 69695750 VAR_040348 - Q2M2I8:p.Ile59Val chr2 69653502 69653505 VAR_031129 - Q2M2I8:p.Lys509Gln chr2 69653430 69653433 VAR_040349 - Q2M2I8:p.Gln533His chr2 69648210 69648213 VAR_040350 - Q2M2I8:p.Val603Ala chr2 69646285 69646288 VAR_040351 - Q2M2I8:p.Thr694Met chr2 69644445 69644448 VAR_040352 - Q2M2I8:p.Pro725Thr chr2 69634819 69634822 VAR_040353 - Q2M2I8:p.Pro771Arg chr2 69621455 69621458 VAR_040354 - Q2M2I8:p.Asp835Gly chr12 47685397 47685400 VAR_033453 - P54619:p.Thr89Ser chr12 47682957 47682960 VAR_033454 - P54619:p.Lys329Asn chr7 150711144 150711147 VAR_013264 - Q9UGJ0:p.Arg302Gln chr7 150707398 150707401 VAR_013265 - Q9UGJ0:p.Arg350Arg chr7 150703533 150703536 VAR_013266 - Q9UGJ0:p.His383Arg chr7 150703482 150703485 VAR_013267 - Q9UGJ0:p.Thr400Asn chr7 150698931 150698934 VAR_013268 - Q9UGJ0:p.Asn488Ile chr7 150695342 150695345 VAR_032909 - Q9UGJ0:p.Arg531Gly chr7 150695342 150695345 VAR_013269 - Q9UGJ0:p.Arg531Gln chr2 219520989 219520992 VAR_023484 - Q9UGI9:p.Pro71Ala chr2 218956304 218956307 VAR_037061 - Q13685:p.Ile250Val chr1 56881986 56881989 VAR_035623 + P54646:p.Pro371Thr chr1 56882094 56882097 VAR_040355 + P54646:p.Arg407Gln chr1 56885314 56885317 VAR_035624 + P54646:p.Ser523Gly chr14 50438359 50438362 VAR_035676 + Q7Z5M8:p.Ile282Val chr14 50440598 50440601 VAR_019100 + Q7Z5M8:p.Phe334Leu chr22 37706325 37706328 VAR_018142 + Q9UH17:p.Lys62Glu chr22 37706433 37706436 VAR_018143 + Q9UH17:p.Pro98Leu chr22 37706466 37706469 VAR_033455 + Q9UH17:p.Ser109Ala chr22 37706577 37706580 VAR_018144 + Q9UH17:p.Thr146Lys chr22 37763565 37763568 VAR_038355 + Q8IUX4:p.Arg48Pro chr22 37765454 37765457 VAR_018145 + Q8IUX4:p.Gln61Leu chr22 37765562 37765565 VAR_018146 + Q8IUX4:p.Pro97Leu chr22 37765595 37765598 VAR_018147 + Q8IUX4:p.Ala108Ser chr22 37766012 37766015 VAR_025058 + Q8IUX4:p.Ala178Thr chr22 37770053 37770056 VAR_018148 + Q8IUX4:p.Val231Ile chr22 37772773 37772776 VAR_025059 + Q8IUX4:p.Tyr307Cys chr22 37802064 37802067 VAR_017837 + Q9HC16:p.His186Arg chr22 37806870 37806873 VAR_025060 + Q9HC16:p.Gln275Glu chr22 37820834 37820837 VAR_032835 + Q6NTF7:p.Arg18Leu chr22 37821903 37821906 VAR_032836 + Q6NTF7:p.Gly105Arg chr22 37821951 37821954 VAR_032837 + Q6NTF7:p.Lys121Glu chr22 37821951 37821954 VAR_032838 + Q6NTF7:p.Lys121Asn chr22 37822535 37822538 VAR_032839 + Q6NTF7:p.Glu178Asp chr16 2316027 2316030 VAR_023497 - Q99758:p.Leu101Pro chr16 2314432 2314435 VAR_025061 - Q99758:p.Asn140His chr16 2309585 2309588 VAR_035728 - Q99758:p.Leu290Met chr16 2289441 2289444 VAR_023498 - Q99758:p.Asn568Asp chr16 2285707 2285710 VAR_025062 - Q99758:p.Pro766Ser chr16 2285602 2285605 VAR_035729 - Q99758:p.Glu801Asp chr16 2276766 2276769 VAR_035730 - Q99758:p.His1069Gln chr16 2268348 2268351 VAR_023499 - Q99758:p.Leu1553Pro chr16 2268016 2268019 VAR_023500 - Q99758:p.Gln1591Pro chr1 94298589 94298592 VAR_012493 - P78363:p.Leu11Pro chr1 94298577 94298586 VAR_012494 - P78363:p.13_15del chr1 94298568 94298571 VAR_008398 - P78363:p.Arg18Trp chr1 94290637 94290640 VAR_008399 - P78363:p.Arg24His chr1 94289142 94289145 VAR_012495 - P78363:p.Asn58Lys chr1 94289136 94289139 VAR_012496 - P78363:p.Ala60Glu chr1 94289136 94289139 VAR_012497 - P78363:p.Ala60Thr chr1 94289136 94289139 VAR_008492 - P78363:p.Ala60Val chr1 94289121 94289124 VAR_008401 - P78363:p.Gly65Glu chr1 94289112 94289115 VAR_012498 - P78363:p.Pro68Leu chr1 94289112 94289115 VAR_012499 - P78363:p.Pro68Arg chr1 94289100 94289103 VAR_012500 - P78363:p.Gly72Arg chr1 94289091 94289094 VAR_008402 - P78363:p.Cys75Gly chr1 94289085 94289088 VAR_012501 - P78363:p.Val77Glu chr1 94289028 94289031 VAR_008403 - P78363:p.Asn96Asp chr1 94289028 94289031 VAR_008404 - P78363:p.Asn96His chr1 94289016 94289019 VAR_012502 - P78363:p.Ser100Pro chr1 94280705 94280708 VAR_012503 - P78363:p.Arg152Gln chr1 94280693 94280696 VAR_012504 - P78363:p.Ile156Val chr1 94280591 94280594 VAR_012505 - P78363:p.Gln190His chr1 94276562 94276565 VAR_008405 - P78363:p.Ala192Thr chr1 94276520 94276523 VAR_012506 - P78363:p.Ser206Arg chr1 94276502 94276505 VAR_008406 - P78363:p.Arg212Cys chr1 94276502 94276505 VAR_012507 - P78363:p.Arg212His chr1 94276478 94276481 VAR_012508 - P78363:p.Arg220Cys chr1 94276466 94276469 VAR_035736 - P78363:p.Thr224Met chr1 94276448 94276451 VAR_012509 - P78363:p.Cys230Ser chr1 94276406 94276409 VAR_012510 - P78363:p.Leu244Pro chr1 94276397 94276400 VAR_012511 - P78363:p.Asn247Ser chr1 94276391 94276394 VAR_008407 - P78363:p.Asp249Gly chr1 94258253 94258256 VAR_008408 - P78363:p.Thr300Asn chr1 94258226 94258229 VAR_012512 - P78363:p.Pro309Arg chr1 94258169 94258172 VAR_012513 - P78363:p.Glu328Val chr1 94258154 94258157 VAR_012514 - P78363:p.Arg333Trp chr1 94258145 94258148 VAR_008409 - P78363:p.Ser336Cys chr1 94258136 94258139 VAR_012515 - P78363:p.Trp339Gly chr1 94258133 94258136 VAR_008410 - P78363:p.Tyr340Asp chr1 94256997 94257000 VAR_012516 - P78363:p.Asn380Lys chr1 94256916 94256919 VAR_008411 - P78363:p.Ala407Val chr1 94256253 94256256 VAR_012517 - P78363:p.His423Arg chr1 94256187 94256190 VAR_008412 - P78363:p.Ser445Arg chr1 94255407 94255410 VAR_008413 - P78363:p.Glu471Lys chr1 94240879 94240882 VAR_008414 - P78363:p.Asp523Glu chr1 94240873 94240876 VAR_012518 - P78363:p.Phe525Cys chr1 94240837 94240840 VAR_012519 - P78363:p.Arg537Cys chr1 94240825 94240828 VAR_008415 - P78363:p.Leu541Pro chr1 94240801 94240804 VAR_012520 - P78363:p.Ala549Pro chr1 94240798 94240801 VAR_012521 - P78363:p.Gly550Arg chr1 94240792 94240795 VAR_012522 - P78363:p.Val552Ile chr1 94240732 94240735 VAR_008416 - P78363:p.Arg572Pro chr1 94240732 94240735 VAR_008417 - P78363:p.Arg572Gln chr1 94240284 94240287 VAR_012523 - P78363:p.Arg602Gln chr1 94240284 94240287 VAR_008418 - P78363:p.Arg602Trp chr1 94240269 94240272 VAR_012524 - P78363:p.Gly607Arg chr1 94240269 94240272 VAR_012525 - P78363:p.Gly607Trp chr1 94240266 94240269 VAR_008419 - P78363:p.Phe608Ile chr1 94240185 94240188 VAR_012526 - P78363:p.Gln635Lys chr1 94240182 94240185 VAR_012527 - P78363:p.Gln636His chr1 94240161 94240164 VAR_008420 - P78363:p.Val643Gly chr1 94240161 94240164 VAR_012528 - P78363:p.Val643Met chr1 94240155 94240158 VAR_008421 - P78363:p.Asp645Asn chr1 94238314 94238317 VAR_012529 - P78363:p.Arg653Cys chr1 94238215 94238218 VAR_012530 - P78363:p.Leu686Ser chr1 94238125 94238128 VAR_012531 - P78363:p.Thr716Met chr1 94234303 94234306 VAR_014703 - P78363:p.Ser752Ile chr1 94234267 94234270 VAR_012532 - P78363:p.Cys764Tyr chr1 94234264 94234267 VAR_012534 - P78363:p.Ser765Asn chr1 94234264 94234267 VAR_012533 - P78363:p.Ser765Arg chr1 94234258 94234261 VAR_012535 - P78363:p.Val767Asp chr1 94232883 94232886 VAR_012536 - P78363:p.Leu797Pro chr1 94232820 94232823 VAR_008422 - P78363:p.Gly818Glu chr1 94232811 94232814 VAR_008423 - P78363:p.Trp821Arg chr1 94232802 94232805 VAR_012537 - P78363:p.Ile824Thr chr1 94232736 94232739 VAR_008493 - P78363:p.Asp846His chr1 94232727 94232730 VAR_012538 - P78363:p.Val849Ala chr1 94232721 94232724 VAR_008424 - P78363:p.Gly851Asp chr1 94232712 94232715 VAR_012539 - P78363:p.Ala854Thr chr1 94229273 94229275 VAR_012540 - P78363:p.863del chr1 94232687 94232688 VAR_012540 - P78363:p.863del chr1 94229243 94229246 VAR_012541 - P78363:p.Phe873Leu chr1 94226496 94226499 VAR_012542 - P78363:p.Thr897Ile chr1 94226484 94226487 VAR_008426 - P78363:p.Thr901Ala chr1 94226445 94226448 VAR_012543 - P78363:p.His914Arg chr1 94224620 94224623 VAR_008427 - P78363:p.Val931Met chr1 94224608 94224611 VAR_012544 - P78363:p.Val935Ala chr1 94224584 94224587 VAR_008428 - P78363:p.Arg943Gln chr1 94224584 94224587 VAR_012545 - P78363:p.Arg943Trp chr1 94224542 94224545 VAR_008429 - P78363:p.Gln957Arg chr1 94224536 94224539 VAR_012546 - P78363:p.Thr959Ile chr1 94224518 94224521 VAR_008430 - P78363:p.Asn965Ser chr1 94224500 94224503 VAR_012547 - P78363:p.Thr971Asn chr1 94224497 94224500 VAR_012548 - P78363:p.Thr972Asn chr1 94222317 94222320 VAR_012549 - P78363:p.Ser974Pro chr1 94222305 94222308 VAR_008431 - P78363:p.Gly978Cys chr1 94222272 94222275 VAR_012550 - P78363:p.Val989Ala chr1 94222266 94222269 VAR_012551 - P78363:p.Gly991Arg chr1 94222197 94222200 VAR_012552 - P78363:p.Leu1014Arg chr1 94221045 94221048 VAR_012553 - P78363:p.Thr1019Ala chr1 94221045 94221048 VAR_012554 - P78363:p.Thr1019Met chr1 94221036 94221039 VAR_012555 - P78363:p.Glu1022Lys chr1 94221009 94221012 VAR_012556 - P78363:p.Lys1031Glu chr1 94220994 94220997 VAR_008432 - P78363:p.Glu1036Lys chr1 94220988 94220991 VAR_008433 - P78363:p.Ala1038Val chr1 94220937 94220940 VAR_012557 - P78363:p.Arg1055Trp chr1 94220913 94220916 VAR_012558 - P78363:p.Ser1063Pro chr1 94220452 94220455 VAR_008434 - P78363:p.Ser1071Leu chr1 94220449 94220452 VAR_008435 - P78363:p.Val1072Ala chr1 94220404 94220407 VAR_012559 - P78363:p.Glu1087Asp chr1 94220404 94220407 VAR_008436 - P78363:p.Glu1087Lys chr1 94220392 94220395 VAR_012560 - P78363:p.Gly1091Glu chr1 94220374 94220377 VAR_012561 - P78363:p.Arg1097Cys chr1 94220341 94220344 VAR_012562 - P78363:p.Arg1108Cys chr1 94220341 94220344 VAR_012563 - P78363:p.Arg1108His chr1 94220341 94220344 VAR_012564 - P78363:p.Arg1108Leu chr1 94218971 94218974 VAR_008437 - P78363:p.Thr1112Asn chr1 94218941 94218944 VAR_008438 - P78363:p.Glu1122Lys chr1 94218920 94218923 VAR_012565 - P78363:p.Arg1129Cys chr1 94218920 94218923 VAR_008439 - P78363:p.Arg1129Leu chr1 94218863 94218866 VAR_012566 - P78363:p.Lys1148Thr chr1 94217623 94217626 VAR_008440 - P78363:p.Leu1201Arg chr1 94214922 94214925 VAR_008441 - P78363:p.Asp1204Asn chr1 94214784 94214787 VAR_012567 - P78363:p.Leu1250Pro chr1 94214775 94214778 VAR_012568 - P78363:p.Thr1253Met chr1 94209582 94209585 VAR_012569 - P78363:p.Arg1300Gln chr1 94209540 94209543 VAR_008442 - P78363:p.Pro1314Thr chr1 94208685 94208688 VAR_008443 - P78363:p.Pro1380Leu chr1 94208661 94208664 VAR_012570 - P78363:p.Leu1388Pro chr1 94208628 94208631 VAR_012571 - P78363:p.Glu1399Lys chr1 94208607 94208610 VAR_008444 - P78363:p.His1406Tyr chr1 94208601 94208604 VAR_008445 - P78363:p.Trp1408Leu chr1 94208601 94208604 VAR_008446 - P78363:p.Trp1408Arg chr1 94208072 94208075 VAR_008447 - P78363:p.Thr1428Met chr1 94208069 94208072 VAR_008448 - P78363:p.Val1429Ala chr1 94208066 94208069 VAR_012572 - P78363:p.Leu1430Pro chr1 94208057 94208060 VAR_008449 - P78363:p.Val1433Ile chr1 94208039 94208042 VAR_008450 - P78363:p.Gly1439Asp chr1 94208036 94208039 VAR_008451 - P78363:p.Phe1440Ser chr1 94208036 94208039 VAR_012573 - P78363:p.Phe1440Val chr1 94208027 94208030 VAR_012574 - P78363:p.Arg1443His chr1 94207102 94207105 VAR_008452 - P78363:p.Pro1486Leu chr1 94207096 94207099 VAR_012575 - P78363:p.Cys1488Phe chr1 94207096 94207099 VAR_008453 - P78363:p.Cys1488Arg chr1 94207096 94207099 VAR_012576 - P78363:p.Cys1488Tyr chr1 94207090 94207093 VAR_008454 - P78363:p.Cys1490Tyr chr1 94207036 94207039 VAR_012577 - P78363:p.Gly1508Cys chr1 94207021 94207024 VAR_012578 - P78363:p.Gln1513Arg chr1 94202613 94202616 VAR_008455 - P78363:p.Arg1517Ser chr1 94202589 94202592 VAR_012579 - P78363:p.Leu1525Pro chr1 94202586 94202589 VAR_008456 - P78363:p.Thr1526Met chr1 94202568 94202571 VAR_008457 - P78363:p.Asp1532Asn chr1 94202553 94202556 VAR_012580 - P78363:p.Thr1537Met chr1 94199509 94199512 VAR_008458 - P78363:p.Ile1562Thr chr1 94199461 94199464 VAR_008459 - P78363:p.Gly1578Arg chr1 94199270 94199273 VAR_012581 - P78363:p.Ala1598Asp chr1 94198941 94198944 VAR_008460 - P78363:p.Leu1631Pro chr1 94198923 94198926 VAR_012582 - P78363:p.Ala1637Thr chr1 94198914 94198917 VAR_012583 - P78363:p.Arg1640Gln chr1 94198914 94198917 VAR_008461 - P78363:p.Arg1640Trp chr1 94198878 94198881 VAR_008462 - P78363:p.Tyr1652Asp chr1 94197299 94197314 VAR_012584 - P78363:p.1681_1685del chr1 94197287 94197290 VAR_012585 - P78363:p.Ser1689Pro chr1 94197275 94197278 VAR_012586 - P78363:p.Val1693Ile chr1 94197266 94197269 VAR_008463 - P78363:p.Ser1696Asn chr1 94197245 94197248 VAR_008464 - P78363:p.Gln1703Lys chr1 94197239 94197242 VAR_012587 - P78363:p.Arg1705Leu chr1 94197167 94197170 VAR_008465 - P78363:p.Leu1729Pro chr1 94193428 94193431 VAR_012588 - P78363:p.Met1733Thr chr1 94193419 94193422 VAR_012589 - P78363:p.Ser1736Pro chr1 94193383 94193386 VAR_012590 - P78363:p.Gly1748Arg chr1 94193338 94193347 VAR_012591 - P78363:p.1761_1763del chr1 94193338 94193341 VAR_012592 - P78363:p.Leu1763Pro chr1 94192251 94192254 VAR_012593 - P78363:p.Pro1776Leu chr1 94192239 94192242 VAR_012594 - P78363:p.Pro1780Ala chr1 94192197 94192200 VAR_008466 - P78363:p.Ala1794Asp chr1 94192182 94192185 VAR_012595 - P78363:p.Asn1799Asp chr1 94192164 94192167 VAR_012596 - P78363:p.Asn1805Asp chr1 94192128 94192131 VAR_012597 - P78363:p.Glu1817Asp chr1 94192119 94192122 VAR_008467 - P78363:p.Arg1820Pro chr1 94188908 94188911 VAR_008468 - P78363:p.His1838Tyr chr1 94188893 94188896 VAR_008469 - P78363:p.Arg1843Trp chr1 94188884 94188887 VAR_008494 - P78363:p.Ile1846Thr chr1 94188486 94188489 VAR_008470 - P78363:p.Asn1868Ile chr1 94188438 94188441 VAR_012598 - P78363:p.Val1884Glu chr1 94188435 94188438 VAR_012599 - P78363:p.Glu1885Lys chr1 94188432 94188435 VAR_008471 - P78363:p.Gly1886Glu chr1 94188420 94188423 VAR_008472 - P78363:p.1890del chr1 94188402 94188405 VAR_012600 - P78363:p.Val1896Asp chr1 94188396 94188399 VAR_008473 - P78363:p.Arg1898His chr1 94186399 94186402 VAR_012601 - P78363:p.Val1921Met chr1 94186342 94186345 VAR_012602 - P78363:p.Leu1940Pro chr1 94185865 94185868 VAR_008474 - P78363:p.Pro1948Leu chr1 94185826 94185829 VAR_008475 - P78363:p.Gly1961Glu chr1 94185305 94185308 VAR_008476 - P78363:p.Leu1970Phe chr1 94185302 94185305 VAR_012603 - P78363:p.Leu1971Arg chr1 94185290 94185293 VAR_012604 - P78363:p.Gly1975Arg chr1 94185284 94185287 VAR_008477 - P78363:p.Gly1977Ser chr1 94183083 94183086 VAR_008478 - P78363:p.Leu2027Phe chr1 94183074 94183077 VAR_008480 - P78363:p.Arg2030Gln chr1 94183059 94183062 VAR_012605 - P78363:p.Leu2035Pro chr1 94183050 94183053 VAR_008495 - P78363:p.Arg2038Trp chr1 94179566 94179569 VAR_008481 - P78363:p.Val2050Leu chr1 94179539 94179542 VAR_012606 - P78363:p.Gly2059Ala chr1 94179536 94179539 VAR_012607 - P78363:p.Leu2060Arg chr1 94179503 94179506 VAR_012608 - P78363:p.Tyr2071Phe chr1 94179485 94179488 VAR_012609 - P78363:p.Arg2077Gly chr1 94179485 94179488 VAR_008482 - P78363:p.Arg2077Trp chr1 94178676 94178679 VAR_008483 - P78363:p.Glu2096Lys chr1 94178646 94178649 VAR_008484 - P78363:p.Arg2106Cys chr1 94178643 94178646 VAR_012610 - P78363:p.Arg2107Cys chr1 94178643 94178646 VAR_008485 - P78363:p.Arg2107His chr1 94178580 94178583 VAR_008486 - P78363:p.His2128Arg chr1 94178498 94178501 VAR_008487 - P78363:p.Glu2131Lys chr1 94178474 94178477 VAR_008488 - P78363:p.Arg2139Trp chr1 94178453 94178456 VAR_012611 - P78363:p.Gly2146Asp chr1 94178444 94178447 VAR_012612 - P78363:p.Arg2149Leu chr1 94178441 94178444 VAR_012613 - P78363:p.Cys2150Arg chr1 94178441 94178444 VAR_008489 - P78363:p.Cys2150Tyr chr1 94175686 94175687 VAR_008490 - P78363:p.Lys2160Arg chr1 94178412 94178414 VAR_008490 - P78363:p.Lys2160Arg chr1 94175635 94175638 VAR_008491 - P78363:p.Asp2177Asn chr1 94175518 94175521 VAR_012614 - P78363:p.Ala2216Val chr1 94175479 94175482 VAR_012615 - P78363:p.Leu2229Pro chr1 94175443 94175446 VAR_012616 - P78363:p.Leu2241Val chr1 94173736 94173739 VAR_009157 - P78363:p.Ser2255Ile chr1 94173712 94173715 VAR_012617 - P78363:p.Arg2263Leu chr17 64820855 64820858 VAR_027571 - Q8WWZ7:p.Gln93Lys chr17 64802433 64802436 VAR_027572 - Q8WWZ7:p.Gln484Arg chr17 64793646 64793649 VAR_027573 - Q8WWZ7:p.Met753Val chr17 64785474 64785477 VAR_027574 - Q8WWZ7:p.Ala832Ser chr17 64778909 64778912 VAR_027575 - Q8WWZ7:p.Met960Val chr17 64637432 64637435 VAR_027576 - Q8N139:p.Val282Ile chr17 64621425 64621428 VAR_027577 - Q8N139:p.Asn610Tyr chr17 64619956 64619959 VAR_027578 - Q8N139:p.Met698Ile chr17 64613312 64613315 VAR_027579 - Q8N139:p.Met875Ile chr17 64593423 64593426 VAR_027580 - Q8N139:p.Asn1322Ser chr19 993807 993810 VAR_027581 + Q8IZY2:p.Glu188Gly chr19 994747 994750 VAR_027582 + Q8IZY2:p.Thr319Ala chr19 995710 995713 VAR_027583 + Q8IZY2:p.His395Arg chr19 996171 996174 VAR_027584 + Q8IZY2:p.Arg463His chr19 998535 998538 VAR_027585 + Q8IZY2:p.Asn718Thr chr19 1006189 1006192 VAR_027586 + Q8IZY2:p.Arg1349Gln chr19 1007490 1007493 VAR_027587 + Q8IZY2:p.Gly1527Ala chr19 1009174 1009177 VAR_027588 + Q8IZY2:p.Gln1686Arg chr19 1016017 1016020 VAR_027589 + Q8IZY2:p.Ala2045Ser chr17 64440052 64440055 VAR_027590 - O94911:p.Thr256Ala chr17 64436916 64436919 VAR_027591 - O94911:p.Gly331Ser chr17 64430011 64430014 VAR_027592 - O94911:p.Tyr489Phe chr17 64415593 64415596 VAR_027593 - O94911:p.Cys680Gly chr17 64543050 64543053 VAR_027594 - Q8IUA7:p.Arg353His chr17 64529523 64529526 VAR_027595 - Q8IUA7:p.Asn785Ser chr17 64497585 64497588 VAR_027596 - Q8IUA7:p.Lys1306Thr chr17 64494039 64494042 VAR_027597 - Q8IUA7:p.Gly1356Ser chr2 215709936 215709939 VAR_019597 - Q86UK0:p.Ser459Thr chr2 215709572 215709575 VAR_027444 - Q86UK0:p.Glu550Gly chr2 215679634 215679637 VAR_027446 - Q86UK0:p.Gly1251Asp chr2 215676794 215676797 VAR_019598 - Q86UK0:p.Asn1380Ser chr2 215676791 215676794 VAR_019599 - Q86UK0:p.Gly1381Glu chr2 215672453 215672456 VAR_019600 - Q86UK0:p.Arg1514His chr2 215670835 215670838 VAR_019601 - Q86UK0:p.Glu1539Lys chr2 215670814 215670817 VAR_027447 - Q86UK0:p.Arg1546Cys chr2 215669057 215669060 VAR_019602 - Q86UK0:p.Gly1651Ser chr2 215646933 215646936 VAR_027448 - Q86UK0:p.Glu2064Lys chr2 215638834 215638837 VAR_027449 - Q86UK0:p.Asp2365Asn chr7 20471509 20471512 VAR_028387 + Q2M3G0:p.Lys115Glu chr7 20498693 20498696 VAR_028388 + Q2M3G0:p.Lys224Arg chr7 20511281 20511284 VAR_035731 + Q2M3G0:p.Glu230Val chr7 20539989 20539992 VAR_033456 + Q2M3G0:p.Gln460His chr7 20541193 20541196 VAR_028389 + Q2M3G0:p.Ala470Thr chr2 219908693 219908696 VAR_035732 - Q9NP58:p.Arg69Gly chr2 219902637 219902640 VAR_029749 - Q9NP58:p.Arg648Gln chrX 74074533 74074536 VAR_022873 - O75027:p.Phe346Ile chrX 74074371 74074374 VAR_009156 - O75027:p.Ile400Met chrX 74073352 74073355 VAR_022874 - O75027:p.Val411Leu chrX 74073286 74073289 VAR_012640 - O75027:p.Glu433Lys chrX 74068013 74068016 VAR_037972 - O75027:p.Val581Ala chr7 150168646 150168649 VAR_013331 + Q9NUT2:p.Val152Ile chr7 150169040 150169043 VAR_035733 + Q9NUT2:p.Ile165Thr chr7 150179943 150179946 VAR_035734 + Q9NUT2:p.Ala690Gly chr12 121969299 121969302 VAR_013701 - Q9NP78:p.Val121Met chr1 226000684 226000687 VAR_013702 - Q9NRK6:p.Ala150Ser chr1 225974139 225974142 VAR_035735 - Q9NRK6:p.Arg471Thr chr1 225972690 225972693 VAR_031435 - Q9NRK6:p.Asp545Asn chr2 169677418 169677421 VAR_030386 - O95342:p.Glu186Gly chr2 169675892 169675895 VAR_030387 - O95342:p.Ile206Val chr2 169675796 169675799 VAR_030388 - O95342:p.Gly238Val chr2 169672873 169672876 VAR_035349 - O95342:p.Val284Ala chr2 169672873 169672876 VAR_013332 - O95342:p.Val284Leu chr2 169672834 169672837 VAR_010271 - O95342:p.Glu297Gly chr2 169672828 169672831 VAR_030389 - O95342:p.Arg299Lys chr2 169668201 169668204 VAR_030390 - O95342:p.Cys336Ser chr2 169658656 169658659 VAR_043074 - O95342:p.Arg415Gln chr2 169658605 169658608 VAR_030391 - O95342:p.Arg432Thr chr2 169655833 169655836 VAR_013333 - O95342:p.Val444Ala chr2 169655782 169655785 VAR_013334 - O95342:p.Lys461Glu chr2 169654055 169654058 VAR_013335 - O95342:p.Asp482Gly chr2 169652160 169652163 VAR_030392 - O95342:p.Ala570Thr chr2 169652097 169652100 VAR_043075 - O95342:p.Asn591Ser chr2 169651529 169651532 VAR_035350 - O95342:p.Arg616Gly chr2 169651520 169651523 VAR_035351 - O95342:p.Thr619Ala chr2 169650490 169650493 VAR_043076 - O95342:p.Asp676Tyr chr2 169650487 169650490 VAR_030393 - O95342:p.Met677Val chr2 169646306 169646309 VAR_035352 - O95342:p.Arg698His chr2 169626666 169626669 VAR_043077 - O95342:p.Gly855Arg chr2 169626636 169626639 VAR_035353 - O95342:p.Ala865Val chr2 169618291 169618294 VAR_030394 - O95342:p.Thr923Pro chr2 169618282 169618285 VAR_030395 - O95342:p.Ala926Pro chr2 169617382 169617385 VAR_035354 - O95342:p.Arg958Gln chr2 169617310 169617313 VAR_013336 - O95342:p.Gly982Arg chr2 169617244 169617247 VAR_013337 - O95342:p.Gly1004Asp chr2 169614456 169614459 VAR_030396 - O95342:p.Arg1050Cys chr2 169612708 169612711 VAR_030397 - O95342:p.Arg1128His chr2 169609331 169609334 VAR_013338 - O95342:p.Arg1153Cys chr2 169609232 169609235 VAR_030398 - O95342:p.Glu1186Lys chr2 169605800 169605803 VAR_013339 - O95342:p.Arg1268Gln chr11 17454878 17454881 VAR_031349 - Q09428:p.Gly7Arg chr11 17454836 17454839 VAR_031350 - Q09428:p.Val21Asp chr11 17454818 17454821 VAR_031351 - Q09428:p.Phe27Ser chr11 17453088 17453091 VAR_031352 - Q09428:p.Gly70Glu chr11 17453076 17453079 VAR_008639 - Q09428:p.Arg74Gln chr11 17453076 17453079 VAR_031353 - Q09428:p.Arg74Trp chr11 17453040 17453043 VAR_031354 - Q09428:p.Val86Ala chr11 17448323 17448326 VAR_029777 - Q09428:p.Leu104Val chr11 17448302 17448305 VAR_031355 - Q09428:p.Gly111Arg chr11 17448287 17448290 VAR_031356 - Q09428:p.Ala116Pro chr11 17448260 17448263 VAR_008640 - Q09428:p.His125Gln chr11 17448239 17448242 VAR_029778 - Q09428:p.Phe132Leu chr11 17441578 17441581 VAR_008641 - Q09428:p.Val187Asp chr11 17441575 17441578 VAR_008642 - Q09428:p.Asn188Ser chr11 17439888 17439891 VAR_029779 - Q09428:p.Leu213Arg chr11 17439828 17439831 VAR_031357 - Q09428:p.Met233Arg chr11 17438796 17438799 VAR_008643 - Q09428:p.Arg275Gln chr11 17438691 17438694 VAR_031358 - Q09428:p.Asp310Asn chr11 17426752 17426755 VAR_008644 - Q09428:p.Asn406Asp chr11 17426716 17426719 VAR_031359 - Q09428:p.Cys418Arg chr11 17426665 17426668 VAR_029780 - Q09428:p.Cys435Arg chr11 17420987 17420990 VAR_031360 - Q09428:p.Arg495Gln chr11 17420969 17420972 VAR_031361 - Q09428:p.Glu501Lys chr11 17420963 17420966 VAR_031362 - Q09428:p.Leu503Pro chr11 17420948 17420951 VAR_031363 - Q09428:p.Leu508Pro chr11 17410344 17410347 VAR_031364 - Q09428:p.Pro551Arg chr11 17409073 17409076 VAR_008645 - Q09428:p.Val560Met chr11 17409007 17409010 VAR_029781 - Q09428:p.Leu582Val chr11 17408980 17408983 VAR_008646 - Q09428:p.Phe591Leu chr11 17406750 17406753 VAR_031365 - Q09428:p.Arg620Cys chr11 17406432 17406435 VAR_015006 - Q09428:p.Asp673Asn chr11 17406047 17406050 VAR_031366 - Q09428:p.Phe686Ser chr11 17405245 17405248 VAR_000100 - Q09428:p.Gly716Val chr11 17405236 17405239 VAR_031367 - Q09428:p.Lys719Thr chr11 17391561 17391564 VAR_008647 - Q09428:p.Asp810Asn chr11 17390842 17390845 VAR_008648 - Q09428:p.Arg834Cys chr11 17390821 17390824 VAR_031368 - Q09428:p.Arg841Gly chr11 17388665 17388668 VAR_031369 - Q09428:p.Lys889Thr chr11 17385528 17385531 VAR_031370 - Q09428:p.Ser956Phe chr11 17385103 17385106 VAR_029782 - Q09428:p.His1023Tyr chr11 17383625 17383628 VAR_031371 - Q09428:p.Thr1130Pro chr11 17382777 17382780 VAR_008649 - Q09428:p.Thr1138Met chr11 17382750 17382753 VAR_031372 - Q09428:p.Leu1147Arg chr11 17382645 17382648 VAR_029783 - Q09428:p.Arg1182Gln chr11 17380791 17380794 VAR_008650 - Q09428:p.Arg1214Gln chr11 17380791 17380794 VAR_031373 - Q09428:p.Arg1214Trp chr11 17375418 17375421 VAR_031374 - Q09428:p.Asn1295Lys chr11 17375149 17375152 VAR_031375 - Q09428:p.Lys1336Asn chr11 17375131 17375134 VAR_031376 - Q09428:p.Gly1342Glu chr11 17375110 17375113 VAR_031377 - Q09428:p.Leu1349Gln chr11 17375101 17375104 VAR_029784 - Q09428:p.Arg1352His chr11 17375101 17375104 VAR_008537 - Q09428:p.Arg1352Pro chr11 17375077 17375080 VAR_008651 - Q09428:p.Val1360Gly chr11 17375077 17375080 VAR_015007 - Q09428:p.Val1360Met chr11 17374038 17374041 VAR_008653 - Q09428:p.Gly1378Arg chr11 17374035 17374038 VAR_029785 - Q09428:p.Arg1379Cys chr11 17374029 17374032 VAR_008654 - Q09428:p.Gly1381Ser chr11 17374020 17374023 VAR_031378 - Q09428:p.Lys1384Gln chr11 17374017 17374020 VAR_029786 - Q09428:p.1385del chr11 17374014 17374017 VAR_031379 - Q09428:p.Ser1386Phe chr11 17374011 17374014 VAR_008538 - Q09428:p.1387del chr11 17373993 17373996 VAR_008655 - Q09428:p.Arg1393His chr11 17373839 17373841 VAR_031380 - Q09428:p.Gly1400Arg chr11 17373974 17373975 VAR_031380 - Q09428:p.Gly1400Arg chr11 17373785 17373788 VAR_031381 - Q09428:p.Arg1418His chr11 17373779 17373782 VAR_008539 - Q09428:p.Arg1420Cys chr11 17373767 17373770 VAR_029787 - Q09428:p.Ile1424Val chr11 17373355 17373358 VAR_031382 - Q09428:p.Leu1450Pro chr11 17373334 17373337 VAR_031383 - Q09428:p.Ala1457Thr chr11 17372499 17372502 VAR_008656 - Q09428:p.Gly1478Arg chr11 17372475 17372478 VAR_031386 - Q09428:p.Arg1486Lys chr11 17372454 17372457 VAR_031387 - Q09428:p.Arg1493Gln chr11 17372454 17372457 VAR_008540 - Q09428:p.Arg1493Trp chr11 17372415 17372418 VAR_015009 - Q09428:p.Glu1506Lys chr11 17372412 17372415 VAR_008657 - Q09428:p.Ala1507Ala chr11 17371230 17371233 VAR_015010 - Q09428:p.Leu1543Pro chr11 17371209 17371212 VAR_031388 - Q09428:p.Val1550Asp chr11 17371206 17371209 VAR_031389 - Q09428:p.Leu1551Val chr11 17371143 17371146 VAR_008658 - Q09428:p.Val1572Ile chr16 46823276 46823279 VAR_025437 - Q96J66:p.Arg19His chr16 46815696 46815699 VAR_025438 - Q96J66:p.Gly180Arg chr21 14593713 14593716 VAR_020247 + Q9NSE7:p.Ser228Asn chrX 152511604 152511607 VAR_013340 + P33897:p.Asn13Thr chrX 152511829 152511832 VAR_023004 + P33897:p.Cys88Trp chrX 152511835 152511838 VAR_009349 + P33897:p.Glu90Lys chrX 152511859 152511862 VAR_000024 + P33897:p.Ser98Leu chrX 152511862 152511865 VAR_013341 + P33897:p.Ala99Asp chrX 152511874 152511877 VAR_009350 + P33897:p.Ser103Arg chrX 152511877 152511880 VAR_000025 + P33897:p.Arg104Cys chrX 152511877 152511880 VAR_000026 + P33897:p.Arg104His chrX 152511880 152511883 VAR_000027 + P33897:p.Thr105Ile chrX 152511880 152511883 VAR_009351 + P33897:p.Thr105Pro chrX 152511886 152511889 VAR_000028 + P33897:p.Leu107Pro chrX 152511889 152511892 VAR_009352 + P33897:p.Ser108Leu chrX 152511889 152511892 VAR_000029 + P33897:p.Ser108Trp chrX 152511904 152511907 VAR_009353 + P33897:p.Arg113Cys chrX 152511904 152511907 VAR_013342 + P33897:p.Arg113Pro chrX 152511913 152511916 VAR_000030 + P33897:p.Gly116Arg chrX 152511979 152511991 VAR_000032 + P33897:p.138_141del chrX 152511988 152511991 VAR_000033 + P33897:p.Ala141Thr chrX 152511994 152511997 VAR_009354 + P33897:p.Pro143Ser chrX 152512009 152512012 VAR_000034 + P33897:p.Asn148Ser chrX 152512012 152512015 VAR_000035 + P33897:p.Ser149Asn chrX 152512021 152512024 VAR_000036 + P33897:p.Arg152Cys chrX 152512021 152512024 VAR_009355 + P33897:p.Arg152Leu chrX 152512021 152512024 VAR_000037 + P33897:p.Arg152Pro chrX 152512021 152512024 VAR_009356 + P33897:p.Arg152Ser chrX 152512048 152512051 VAR_009357 + P33897:p.Ser161Pro chrX 152512054 152512057 VAR_000038 + P33897:p.Arg163His chrX 152512054 152512057 VAR_009358 + P33897:p.Arg163Pro chrX 152512087 152512090 VAR_009359 + P33897:p.Tyr174Cys chrX 152512087 152512090 VAR_000039 + P33897:p.Tyr174Asp chrX 152512087 152512090 VAR_000040 + P33897:p.Tyr174Ser chrX 152512099 152512102 VAR_000041 + P33897:p.Gln178Glu chrX 152512108 152512111 VAR_000042 + P33897:p.Tyr181Cys chrX 152512111 152512114 VAR_000043 + P33897:p.Arg182Pro chrX 152512132 152512135 VAR_009360 + P33897:p.Arg189Trp chrX 152512135 152512138 VAR_009361 + P33897:p.Leu190Pro chrX 152512147 152512150 VAR_000044 + P33897:p.Asp194His chrX 152512159 152512162 VAR_009362 + P33897:p.Thr198Lys chrX 152512165 152512168 VAR_009363 + P33897:p.Asp200Asn chrX 152512165 152512168 VAR_000045 + P33897:p.Asp200Val chrX 152512186 152512189 VAR_013343 + P33897:p.Ser207Ser chrX 152512198 152512201 VAR_000046 + P33897:p.Leu211Pro chrX 152512204 152512207 VAR_009364 + P33897:p.Ser213Cys chrX 152512207 152512210 VAR_009365 + P33897:p.Asn214Asp chrX 152512216 152512219 VAR_013344 + P33897:p.Lys217Glu chrX 152512219 152512222 VAR_009366 + P33897:p.Pro218Thr chrX 152512225 152512228 VAR_000047 + P33897:p.Leu220Pro chrX 152512228 152512231 VAR_000048 + P33897:p.Asp221Gly chrX 152512237 152512240 VAR_013345 + P33897:p.Val224Glu chrX 152512252 152512255 VAR_009367 + P33897:p.Leu229Pro chrX 152512327 152512330 VAR_000049 + P33897:p.Thr254Met chrX 152512327 152512330 VAR_000050 + P33897:p.Thr254Pro chrX 152512354 152512357 VAR_000051 + P33897:p.Pro263Leu chrX 152512363 152512366 VAR_000052 + P33897:p.Gly266Arg chrX 152512378 152512381 VAR_009368 + P33897:p.Glu271Lys chrX 152512387 152512390 VAR_013346 + P33897:p.Arg274Trp chrX 152512393 152512396 VAR_000053 + P33897:p.Lys276Glu chrX 152512396 152512399 VAR_000055 + P33897:p.Gly277Gly chrX 152512396 152512399 VAR_000054 + P33897:p.Gly277Arg chrX 152512396 152512399 VAR_000056 + P33897:p.Gly277Trp chrX 152512405 152512408 VAR_013347 + P33897:p.Arg280Cys chrX 152512420 152512423 VAR_009369 + P33897:p.Arg285Pro chrX 152512438 152512441 VAR_000057 + P33897:p.Glu291Asp chrX 152512438 152512441 VAR_000058 + P33897:p.Glu291Lys chrX 152512438 152512441 VAR_000059 + P33897:p.291del chrX 152512447 152512450 VAR_000060 + P33897:p.Ala294Thr chrX 152512453 152512456 VAR_009370 + P33897:p.Tyr296Cys chrX 152512459 152512462 VAR_009371 + P33897:p.Gly298Asp chrX 152512465 152512468 VAR_013348 + P33897:p.Glu300Glu chrX 152515536 152515539 VAR_009372 + P33897:p.Glu302Lys chrX 152515596 152515599 VAR_009373 + P33897:p.Leu322Pro chrX 152515638 152515641 VAR_009374 + P33897:p.Lys336Met chrX 152515647 152515650 VAR_013349 + P33897:p.Trp339Arg chrX 152515656 152515659 VAR_000061 + P33897:p.Ser342Pro chrX 152515659 152515662 VAR_013350 + P33897:p.Gly343Asp chrX 152515659 152515662 VAR_023005 + P33897:p.Gly343Ser chrX 152522495 152522498 VAR_000062 + P33897:p.Arg389Gly chrX 152522495 152522498 VAR_000063 + P33897:p.Arg389His chrX 152522531 152522534 VAR_000064 + P33897:p.Arg401Gln chrX 152522531 152522534 VAR_009375 + P33897:p.Arg401Trp chrX 152522672 152522675 VAR_000065 + P33897:p.Arg418Trp chrX 152522699 152522702 VAR_013351 + P33897:p.427del chrX 152523513 152523516 VAR_000066 + P33897:p.Pro484Arg chrX 152526410 152526413 VAR_023006 + P33897:p.Leu503Pro chrX 152526422 152526425 VAR_000067 + P33897:p.Gly507Val chrX 152526437 152526440 VAR_000068 + P33897:p.Gly512Ser chrX 152526443 152526446 VAR_023007 + P33897:p.Ser514Arg chrX 152526446 152526449 VAR_000069 + P33897:p.Ser515Phe chrX 152526455 152526458 VAR_000070 + P33897:p.Arg518Gln chrX 152526455 152526458 VAR_000071 + P33897:p.Arg518Trp chrX 152526467 152526470 VAR_000072 + P33897:p.Gly522Trp chrX 152526485 152526488 VAR_000073 + P33897:p.528del chrX 152526488 152526491 VAR_009376 + P33897:p.Gly529Ser chrX 152526503 152526506 VAR_000074 + P33897:p.Pro534Leu chrX 152526521 152526524 VAR_009377 + P33897:p.Phe540Ser chrX 152526530 152526533 VAR_009378 + P33897:p.Pro543Leu chrX 152526533 152526536 VAR_009379 + P33897:p.Gln544Arg chrX 152526893 152526896 VAR_009380 + P33897:p.Ser552Pro chrX 152526899 152526902 VAR_009381 + P33897:p.Arg554His chrX 152526905 152526908 VAR_013352 + P33897:p.Gln556Arg chrX 152526917 152526920 VAR_000075 + P33897:p.Pro560Leu chrX 152526917 152526920 VAR_000076 + P33897:p.Pro560Arg chrX 152526917 152526920 VAR_013353 + P33897:p.Pro560Ser chrX 152526935 152526938 VAR_000077 + P33897:p.Met566Lys chrX 152527010 152527013 VAR_013354 + P33897:p.Arg591Pro chrX 152527010 152527013 VAR_000078 + P33897:p.Arg591Gln chrX 152527010 152527013 VAR_009382 + P33897:p.Arg591Trp chrX 152529322 152529325 VAR_000079 + P33897:p.Ser606Leu chrX 152529322 152529325 VAR_000080 + P33897:p.Ser606Pro chrX 152529328 152529331 VAR_013355 + P33897:p.Gly608Asp chrX 152529331 152529334 VAR_000081 + P33897:p.Glu609Gly chrX 152529331 152529334 VAR_000082 + P33897:p.Glu609Lys chrX 152529352 152529355 VAR_009383 + P33897:p.Ala616Val chrX 152529355 152529358 VAR_000083 + P33897:p.Arg617Cys chrX 152529355 152529358 VAR_000084 + P33897:p.Arg617Gly chrX 152529355 152529358 VAR_000085 + P33897:p.Arg617His chrX 152529531 152529534 VAR_013356 + P33897:p.Ala626Asp chrX 152529531 152529534 VAR_000086 + P33897:p.Ala626Thr chrX 152529540 152529543 VAR_000087 + P33897:p.Asp629His chrX 152529543 152529546 VAR_009384 + P33897:p.Glu630Gly chrX 152529546 152529549 VAR_009385 + P33897:p.Cys631Tyr chrX 152529549 152529552 VAR_013357 + P33897:p.Thr632Ile chrX 152529552 152529555 VAR_013358 + P33897:p.Ser633Ile chrX 152529552 152529555 VAR_009386 + P33897:p.Ser633Arg chrX 152529558 152529561 VAR_013359 + P33897:p.Val635Met chrX 152529561 152529564 VAR_009387 + P33897:p.Ser636Ile chrX 152529567 152529570 VAR_009388 + P33897:p.Asp638Tyr chrX 152529591 152529594 VAR_009389 + P33897:p.Ala646Pro chrX 152529615 152529618 VAR_009390 + P33897:p.Leu654Pro chrX 152529624 152529627 VAR_000088 + P33897:p.657del chrX 152529633 152529636 VAR_013360 + P33897:p.Arg660Pro chrX 152529633 152529636 VAR_000089 + P33897:p.Arg660Trp chrX 152529796 152529799 VAR_009391 + P33897:p.His667Asp chrX 152529799 152529802 VAR_009392 + P33897:p.Thr668Ile chrX 152529832 152529835 VAR_000090 + P33897:p.Trp679Arg chrX 152529874 152529877 VAR_009393 + P33897:p.Thr693Met chr1 94596103 94596106 VAR_000091 + P28288:p.Gly17Asp chr14 73829227 73829230 VAR_020778 - O14678:p.Ala304Thr chr14 73828756 73828759 VAR_020222 - O14678:p.Glu368Lys chr3 185391682 185391685 VAR_027247 + Q9NUQ8:p.Pro503Leu chr3 185391703 185391706 VAR_027248 + Q9NUQ8:p.Arg510His chr21 42589535 42589538 VAR_012279 + P45844:p.Phe668Leu chr4 89418290 89418293 VAR_020779 - Q9UNQ0:p.Val12Met chr4 89409499 89409502 VAR_020780 - Q9UNQ0:p.Gln141Lys chr4 89409424 89409427 VAR_022704 - Q9UNQ0:p.Gln166Glu chr4 89400036 89400039 VAR_022705 - Q9UNQ0:p.Ile206Leu chr4 89400030 89400033 VAR_022706 - Q9UNQ0:p.Phe208Ser chr4 89396536 89396539 VAR_022707 - Q9UNQ0:p.Ser248Pro chr4 89393342 89393345 VAR_030357 - Q9UNQ0:p.Asp296His chr4 89391879 89391882 VAR_022443 - Q9UNQ0:p.Thr316Pro chr4 89379634 89379637 VAR_018349 - Q9UNQ0:p.Phe431Leu chr4 89377679 89377682 VAR_018350 - Q9UNQ0:p.Phe489Leu chr4 89375846 89375849 VAR_030358 - Q9UNQ0:p.Ala528Thr chr4 89373874 89373877 VAR_022708 - Q9UNQ0:p.Phe571Ile chr4 89372957 89372960 VAR_035355 - Q9UNQ0:p.Asn590Tyr chr4 89370672 89370675 VAR_022709 - Q9UNQ0:p.Asp620Asn chr2 43970621 43970624 VAR_012244 - Q9H222:p.Glu146Gln chr2 43962859 43962862 VAR_012245 - Q9H222:p.Arg389His chr2 43962769 43962772 VAR_012246 - Q9H222:p.Arg419His chr2 43962769 43962772 VAR_012247 - Q9H222:p.Arg419Pro chr2 43962715 43962718 VAR_020781 - Q9H222:p.Asn437Lys chr2 43958802 43958805 VAR_033457 - Q9H222:p.Thr517Ser chr2 43958784 43958787 VAR_020782 - Q9H222:p.Ile523Val chr2 43952061 43952064 VAR_020783 - Q9H222:p.Cys600Tyr chr2 43952049 43952052 VAR_012249 - Q9H222:p.Gln604Glu chr2 43951995 43951998 VAR_020784 - Q9H222:p.Met622Val chr2 43977897 43977900 VAR_012250 + Q9H221:p.Asp19His chr2 43983392 43983395 VAR_012251 + Q9H221:p.Tyr54Cys chr2 43990600 43990603 VAR_012252 + Q9H221:p.Arg184His chr2 43991209 43991212 VAR_022074 + Q9H221:p.Val210Met chr2 43991272 43991275 VAR_012253 + Q9H221:p.Pro231Thr chr2 43991405 43991408 VAR_012254 + Q9H221:p.Glu238Lys chr2 43991468 43991471 VAR_012255 + Q9H221:p.Ala259Val chr2 43991480 43991483 VAR_012256 + Q9H221:p.Arg263Gln chr2 44011082 44011085 VAR_012257 + Q9H221:p.Thr400Lys chr2 44012577 44012580 VAR_012258 + Q9H221:p.Arg405His chr2 44013947 44013950 VAR_012259 + Q9H221:p.Leu501Pro chr2 44014073 44014076 VAR_012260 + Q9H221:p.Arg543Ser chr2 44014154 44014157 VAR_012261 + Q9H221:p.570del chr2 44014160 44014163 VAR_012262 + Q9H221:p.Leu572Pro chr2 44014166 44014169 VAR_012263 + Q9H221:p.Gly574Glu chr2 44014166 44014169 VAR_012264 + Q9H221:p.Gly574Arg chr2 44014169 44014172 VAR_012265 + Q9H221:p.Gly575Arg chr2 44016379 44016382 VAR_012266 + Q9H221:p.Leu596Arg chr2 44016574 44016577 VAR_012267 + Q9H221:p.Val632Ala chr2 44016601 44016604 VAR_020785 + Q9H221:p.Tyr641Phe chr2 44016643 44016646 VAR_022075 + Q9H221:p.Met655Val chr6 41137318 41137321 VAR_024406 + Q9Y235:p.Ile136Thr chr1 180349348 180349351 VAR_026639 - Q8WW27:p.Ser75Phe chr1 180348760 180348763 VAR_026640 - Q8WW27:p.Phe271Ser chr1 180348748 180348751 VAR_026641 - Q8WW27:p.Pro275Ser chr1 180348580 180348583 VAR_026642 - Q8WW27:p.Lys331Glu chr1 180348538 180348541 VAR_026643 - Q8WW27:p.Val345Met chr15 87529692 87529695 VAR_031203 + P08910:p.Arg253Gln chr3 43707506 43707509 VAR_023387 + Q8WTS1:p.Glu7Lys chr3 43718790 43718793 VAR_037574 + Q8WTS1:p.Ile72Thr chr3 43718964 43718967 VAR_023388 + Q8WTS1:p.Gln130Pro chr3 43734170 43734173 VAR_023389 + Q8WTS1:p.Glu260Lys chr3 113193087 113193090 VAR_031194 + Q9NUJ1:p.Ile251Val chr17 44648903 44648906 VAR_022030 + Q9P2A4:p.Arg44Gln chr9 130759063 130759066 VAR_032676 + P00519:p.Arg47Gly chr9 130759983 130759986 VAR_032677 + P00519:p.Arg166Lys chr9 130789346 130789349 VAR_025043 + P00519:p.Gly706Val chr9 130789658 130789661 VAR_032678 + P00519:p.Pro810Leu chr9 130789784 130789787 VAR_025044 + P00519:p.Thr852Pro chr9 130789928 130789931 VAR_025045 + P00519:p.Pro900Ser chr9 130790144 130790147 VAR_025046 + P00519:p.Ser972Leu chr1 175809268 175809271 VAR_029232 - P42684:p.Lys930Arg chr1 175809220 175809223 VAR_029233 - P42684:p.Val946Met chr1 175809070 175809073 VAR_029234 - P42684:p.Pro996Arg chr1 175808803 175808806 VAR_029235 - P42684:p.Ser1085Asn chr1 175808755 175808758 VAR_029236 - P42684:p.Thr1101Ala chr7 149991251 149991254 VAR_025078 + P19801:p.Thr16Met chr7 149992199 149992202 VAR_025079 + P19801:p.Ser332Phe chr7 149992640 149992643 VAR_025080 + P19801:p.Met479Ile chr7 149995354 149995357 VAR_025081 + P19801:p.Asn659His chr11 34334956 34334959 VAR_022087 - Q8N961:p.His64Gln chr11 34132835 34132838 VAR_024171 - Q8N961:p.Thr732Ala chr11 133633619 133633622 VAR_035071 + Q9UKU7:p.Met128Ile chr11 133633637 133633640 VAR_035072 + Q9UKU7:p.Asp134Tyr chr11 133633646 133633649 VAR_035073 + Q9UKU7:p.Gly137Arg chr11 133633691 133633694 VAR_035074 + Q9UKU7:p.Met152Thr chr11 133634750 133634753 VAR_035075 + Q9UKU7:p.Val203Ile chr11 133636440 133636443 VAR_035076 + Q9UKU7:p.Arg302Gln chr11 133636859 133636862 VAR_035077 + Q9UKU7:p.Ala320Thr chr11 133636901 133636904 VAR_035078 + Q9UKU7:p.Arg334Cys chr11 133637683 133637686 VAR_035079 + Q9UKU7:p.Gln385Arg chr3 130110583 130110586 VAR_033459 + Q9H845:p.Arg477Gln chr1 75910387 75910390 VAR_000317 + P11310:p.Arg53Cys chr1 75910429 75910432 VAR_013698 + P11310:p.Tyr67His chr1 75910573 75910576 VAR_015954 + P11310:p.Ile78Thr chr1 75911289 75911295 VAR_000318 + P11310:p.115_116del chr1 75911292 75911295 VAR_015955 + P11310:p.Cys116Tyr chr1 75911307 75911310 VAR_015956 + P11310:p.Thr121Ile chr1 75912502 75912505 VAR_035716 + P11310:p.Pro132Arg chr1 75912553 75912556 VAR_000319 + P11310:p.Met149Ile chr1 75917793 75917796 VAR_000320 + P11310:p.Thr193Ala chr1 75917799 75917802 VAR_000321 + P11310:p.Gly195Arg chr1 75923527 75923530 VAR_015957 + P11310:p.Arg206Leu chr1 75927145 75927148 VAR_000322 + P11310:p.Cys244Arg chr1 75927148 75927151 VAR_013699 + P11310:p.Ser245Leu chr1 75927214 75927217 VAR_000323 + P11310:p.Gly267Arg chr1 75927256 75927259 VAR_013700 + P11310:p.Arg281Thr chr1 75928234 75928237 VAR_015958 + P11310:p.Gly310Arg chr1 75938857 75938860 VAR_000324 + P11310:p.Met326Thr chr1 75938866 75938869 VAR_000325 + P11310:p.Lys329Glu chr1 75938887 75938890 VAR_000326 + P11310:p.Ser336Arg chr1 75938935 75938938 VAR_015959 + P11310:p.Tyr352Cys chr1 75939004 75939007 VAR_000327 + P11310:p.Ile375Thr chr12 119627637 119627640 VAR_000310 + P16219:p.Arg46Trp chr12 119637565 119637568 VAR_013565 + P16219:p.Gly90Ser chr12 119637571 119637574 VAR_000311 + P16219:p.Gly92Cys chr12 119637607 119637610 VAR_013566 + P16219:p.104del chr12 119637616 119637619 VAR_000312 + P16219:p.Arg107Cys chr12 119638397 119638400 VAR_013567 + P16219:p.Arg171Trp chr12 119638415 119638418 VAR_000314 + P16219:p.Trp177Arg chr12 119638460 119638463 VAR_013568 + P16219:p.Ala192Val chr12 119638802 119638805 VAR_000315 + P16219:p.Gly209Ser chr12 119639381 119639384 VAR_013569 + P16219:p.Arg325Trp chr12 119639689 119639692 VAR_013570 + P16219:p.Ser353Leu chr12 119639869 119639872 VAR_013571 + P16219:p.Arg380Trp chr12 119639878 119639881 VAR_000316 + P16219:p.Arg383Cys chr12 119639878 119639881 VAR_033458 + P16219:p.Arg383His chr17 7065718 7065721 VAR_000331 + P49748:p.130del chr17 7066890 7066893 VAR_000340 + P49748:p.278del chr17 7066899 7066902 VAR_000341 + P49748:p.Ala281Asp chr17 7067205 7067208 VAR_000344 + P49748:p.Gly294Glu chr17 7067220 7067223 VAR_000346 + P49748:p.299del chr17 7068046 7068049 VAR_000351 + P49748:p.381del chr3 157034024 157034027 VAR_035776 - O00400:p.Val400Ala chr19 6107508 6107511 VAR_038318 + Q5FVE4:p.Lys152Arg chr19 6138678 6138681 VAR_038319 + Q5FVE4:p.Gly584Asp chr19 6138684 6138687 VAR_038320 + Q5FVE4:p.Gly586Asp chr19 6138729 6138732 VAR_038321 + Q5FVE4:p.Pro601Arg chr19 6138798 6138801 VAR_038322 + Q5FVE4:p.Arg624Lys chr19 6138804 6138807 VAR_038323 + Q5FVE4:p.Glu626Gln chr19 6141614 6141617 VAR_038324 + Q5FVE4:p.Arg650Ser chr12 110610115 110610118 VAR_031811 + Q6JQN1:p.Gln200Arg chr12 110610163 110610166 VAR_031812 + Q6JQN1:p.Thr216Pro chr12 110630472 110630475 VAR_031813 + Q6JQN1:p.Asp463Asn chr12 110648992 110648995 VAR_031814 + Q6JQN1:p.Ala880Val chr3 133843579 133843582 VAR_028825 - Q709F0:p.Arg157His chr3 133828343 133828346 VAR_028826 - Q709F0:p.Val362Leu chr10 124790828 124790831 VAR_014749 + P45954:p.Ser209Gly chr10 124792632 124792635 VAR_013010 + P45954:p.Leu255Phe chrX 15378613 15378616 VAR_023082 - Q9BYF1:p.Lys26Arg chrX 15345588 15345591 VAR_023083 - Q9BYF1:p.Asn638Ser chr7 100136402 100136405 VAR_021325 - P22303:p.Arg34Gln chr7 100136099 100136102 VAR_021326 - P22303:p.Pro135Ala chr7 100135505 100135508 VAR_011934 - P22303:p.Val333Glu chr7 100135445 100135448 VAR_002359 - P22303:p.His353Asn chr17 58916053 58916056 VAR_011710 + P22966:p.Ser32Pro chr17 58916104 58916107 VAR_011711 + P22966:p.Ser49Gly chr17 58922307 58922310 VAR_023435 + P22966:p.Thr342Met chr17 58924667 58924670 VAR_014738 + P22966:p.Ile444Thr chr17 58925028 58925031 VAR_014739 + P22966:p.Phe477Val chr17 58927945 58927948 VAR_023436 + P22966:p.Thr613Met chr17 58928068 58928071 VAR_023437 + P22966:p.Pro654Leu chr17 58928372 58928375 VAR_014740 + P22966:p.Arg705Gln chr17 58928393 58928396 VAR_011712 + P22966:p.Arg712Ser chr17 58928423 58928426 VAR_014741 + P22966:p.Gln722Pro chr17 58910141 58910144 VAR_029139 + P12821:p.Ala154Thr chr17 58910896 58910899 VAR_029140 + P12821:p.Ala183Thr chr17 58911503 58911506 VAR_023430 + P12821:p.Tyr244Cys chr17 58911554 58911557 VAR_011707 + P12821:p.Ala261Ser chr17 58912763 58912766 VAR_023431 + P12821:p.Pro351Leu chr17 58912772 58912775 VAR_035434 + P12821:p.Gly354Arg chr17 58913574 58913577 VAR_029141 + P12821:p.Arg379Gln chr17 58914634 58914637 VAR_029142 + P12821:p.Val524Ala chr17 58915035 58915038 VAR_011708 + P12821:p.Arg561Trp chr17 58915486 58915489 VAR_020053 + P12821:p.Asp592Gly chr17 58920065 58920068 VAR_034602 + P12821:p.Met828Thr chr17 58922307 58922310 VAR_023432 + P12821:p.Thr916Met chr17 58924667 58924670 VAR_014189 + P12821:p.Ile1018Thr chr17 58925028 58925031 VAR_014190 + P12821:p.Phe1051Val chr17 58927945 58927948 VAR_023433 + P12821:p.Thr1187Met chr17 58928068 58928071 VAR_023434 + P12821:p.Pro1228Leu chr17 58928372 58928375 VAR_014191 + P12821:p.Arg1279Gln chr17 58928393 58928396 VAR_011709 + P12821:p.Arg1286Ser chr17 58928423 58928426 VAR_014192 + P12821:p.Gln1296Pro chr8 27384426 27384429 VAR_027639 - Q15822:p.Thr22Ile chr8 27377039 27377042 VAR_027641 - Q15822:p.Ile279Asn chr20 61452366 61452369 VAR_000295 - P43681:p.Ser280Phe chr20 61452366 61452369 VAR_017531 - P43681:p.Ser280Leu chr20 61452045 61452048 VAR_023402 - P43681:p.Glu387Gly chr20 61451655 61451658 VAR_023403 - P43681:p.Ser517Leu chr2 175444537 175444540 VAR_038599 - P02708:p.Val177Leu chr2 175444474 175444477 VAR_000282 - P02708:p.Gly198Ser chr2 175444465 175444468 VAR_000283 - P02708:p.Val201Met chr2 175443828 175443831 VAR_043904 - P02708:p.Arg254Leu chr2 175443804 175443807 VAR_000284 - P02708:p.Asn262Lys chr2 175443756 175443759 VAR_021206 - P02708:p.Phe278Val chr2 175440375 175440378 VAR_021207 - P02708:p.Val294Phe chr2 175440360 175440363 VAR_000285 - P02708:p.Thr299Ile chr2 175440354 175440357 VAR_021208 - P02708:p.Phe301Leu chr2 175440315 175440318 VAR_000286 - P02708:p.Ser314Ile chr2 175440267 175440270 VAR_021209 - P02708:p.Val330Ile chr2 175438982 175438985 VAR_038600 - P02708:p.Asp383Val chr2 175438418 175438421 VAR_038601 - P02708:p.Cys463Trp chr1 151357230 151357233 VAR_012714 + P17787:p.Val287Leu chr1 151357230 151357233 VAR_012715 + P17787:p.Val287Met chr1 151357560 151357563 VAR_021564 + P17787:p.Gln397His chr15 76709293 76709296 VAR_013241 - P30926:p.Arg136Trp chr15 76709281 76709284 VAR_013242 - P30926:p.Ser140Gly chr15 76704625 76704628 VAR_013243 - P30926:p.Met467Val chr17 7298371 7298374 VAR_000287 + P11230:p.Leu285Met chr17 7298383 7298386 VAR_000288 + P11230:p.Val289Met chr17 7299963 7299972 VAR_017494 + P11230:p.449_451del chr2 233217654 233217657 VAR_021210 + Q07001:p.Glu80Lys chr2 233218515 233218518 VAR_043905 + Q07001:p.Phe95Leu chr2 233220344 233220347 VAR_021211 + Q07001:p.Pro271Gln chr2 233221607 233221610 VAR_021212 + Q07001:p.Gln288Glu chr2 233221610 233221613 VAR_019566 + Q07001:p.Ser289Phe chr2 233224289 233224292 VAR_036031 + Q07001:p.Asp398Glu chr17 4747098 4747101 VAR_021213 - Q04844:p.Gly13Arg chr17 4746340 4746343 VAR_019567 - Q04844:p.Leu98Pro chr17 4746082 4746085 VAR_000289 - Q04844:p.Pro141Leu chr17 4746016 4746019 VAR_021214 - Q04844:p.Ser163Leu chr17 4745142 4745145 VAR_019568 - Q04844:p.Leu241Phe chr17 4745070 4745073 VAR_000291 - Q04844:p.Pro265Leu chr17 4744931 4744934 VAR_000292 - Q04844:p.Thr284Pro chr17 4744916 4744919 VAR_000293 - Q04844:p.Leu289Phe chr17 4743580 4743583 VAR_000294 - Q04844:p.Arg331Trp chr17 4743107 4743110 VAR_021215 - Q04844:p.Ala431Pro chr2 233230894 233230897 VAR_030753 + P07510:p.Val107Gly chr2 233231682 233231685 VAR_030754 + P07510:p.Ala149Thr chr2 233233206 233233209 VAR_030755 + P07510:p.Arg239Cys chr3 197103667 197103670 VAR_032792 - Q07912:p.Arg34Leu chr3 197102178 197102181 VAR_032793 - Q07912:p.Lys71Arg chr3 197100151 197100154 VAR_032794 - Q07912:p.Arg99Gln chr3 197100151 197100154 VAR_032795 - Q07912:p.Arg99Trp chr3 197099992 197099995 VAR_032796 - Q07912:p.Thr152Met chr3 197093749 197093752 VAR_032797 - Q07912:p.Glu346Lys chr3 197093462 197093465 VAR_032798 - Q07912:p.Met409Ile chr3 197085316 197085319 VAR_032799 - Q07912:p.Pro507Ser chr9 108704289 108704292 VAR_031425 + Q9Y615:p.Arg45Cys chr9 108704637 108704640 VAR_033460 + Q9Y615:p.Ala161Pro chr9 108705174 108705177 VAR_024362 + Q9Y615:p.Val340Met chr17 37319299 37319302 VAR_028230 - P53396:p.Glu175Asp chr1 236396984 236396987 VAR_033461 + P20309:p.Val65Ile chr1 54772270 54772273 VAR_022119 + Q8WXI4:p.Pro165Leu chr1 54772381 54772384 VAR_022120 + Q8WXI4:p.Gly202Asp chr1 54774978 54774981 VAR_022121 + Q8WXI4:p.Met212Ile chr10 102106300 102106303 VAR_025994 + O00767:p.Met224Leu chr22 40248406 40248409 VAR_036572 + Q99798:p.Thr697Asn chr22 40249075 40249078 VAR_033297 + Q99798:p.Ala768Ser chr17 71465213 71465216 VAR_030619 - Q15067:p.Thr153Ile chr17 71465138 71465141 VAR_025789 - Q15067:p.Gly178Cys chr17 71461236 71461239 VAR_025790 - Q15067:p.Met278Val chr17 71461134 71461137 VAR_021529 - Q15067:p.Ile312Met chr4 8536217 8536220 VAR_030802 - O15254:p.Glu34Ala chr4 8509016 8509019 VAR_030803 - O15254:p.Asp497Asn chr2 111315187 111315190 VAR_035164 + Q9NUZ1:p.Thr78Met chr2 111566744 111566747 VAR_035165 + Q9NUZ1:p.Pro358Leu chrX 70615760 70615763 VAR_038520 + Q96QF7:p.Thr662Ile chr22 49468341 49468344 VAR_011650 + P10323:p.Leu120Val chr22 49468479 49468482 VAR_011651 + P10323:p.Phe166Leu chr16 20401907 20401910 VAR_035247 + Q08AH3:p.Ser513Leu chr16 20405447 20405450 VAR_035248 + Q08AH3:p.Ala561Thr chr2 223620953 223620956 VAR_026716 + O95573:p.Phe551Ser chrX 108732222 108732225 VAR_036376 - O60488:p.Arg133Cys chrX 108711014 108711017 VAR_013180 - O60488:p.Arg570Ser chr10 114159265 114159268 VAR_022117 + Q9ULC5:p.Met182Val chr10 114166713 114166716 VAR_036377 + Q9ULC5:p.Lys388Arg chr10 114171702 114171705 VAR_036378 + Q9ULC5:p.Gly466Asp chr16 20544335 20544338 VAR_035245 - Q08AH1:p.Ile479Val chr16 20543020 20543023 VAR_035246 - Q08AH1:p.Ile515Thr chr16 20338109 20338112 VAR_035252 + Q6NUN0:p.Gln159His chr16 20348552 20348555 VAR_035253 + Q6NUN0:p.Pro352Arg chr16 20348576 20348579 VAR_035254 + Q6NUN0:p.His360Arg chr16 20358682 20358685 VAR_035255 + Q6NUN0:p.Thr533Met chr10 90690993 90690996 VAR_011944 - P62736:p.Thr196Ser chr10 90687827 90687830 VAR_011945 - P62736:p.Thr320Ala chr10 90684974 90684977 VAR_011946 - P62736:p.His373Pro chr7 5341405 5341408 VAR_030026 - P60709:p.Arg183Trp chr15 32872888 32872891 VAR_012857 - P68032:p.Glu101Lys chr15 32872018 32872021 VAR_012858 - P68032:p.Pro166Ala chr15 32870705 32870708 VAR_012859 - P68032:p.Ala297Ser chr15 32870654 32870657 VAR_012860 - P68032:p.Arg314His chr15 32870039 32870042 VAR_012861 - P68032:p.Ala333Pro chr15 32869949 32869952 VAR_012862 - P68032:p.Glu363Gly chr17 77093619 77093622 VAR_032434 - P63261:p.Thr89Ile chr17 77093532 77093535 VAR_032435 - P63261:p.Lys118Met chr17 77092818 77092821 VAR_032436 - P63261:p.Pro264Leu chr17 77092697 77092700 VAR_032437 - P63261:p.Thr278Ile chr17 77092442 77092445 VAR_032438 - P63261:p.Pro332Ala chr17 77092328 77092331 VAR_032439 - P63261:p.Val370Ala chr18 13875436 13875439 VAR_003509 - Q01718:p.Pro27Arg chr18 13875295 13875298 VAR_003510 - Q01718:p.Ser74Ile chr18 13875208 13875211 VAR_010702 - Q01718:p.Asp103Asn chr18 13875196 13875199 VAR_015095 - Q01718:p.Asp107Asn chr18 13875157 13875160 VAR_003511 - Q01718:p.Ser120Arg chr18 13875133 13875136 VAR_003512 - Q01718:p.Arg128Cys chr18 13875106 13875109 VAR_010703 - Q01718:p.Arg137Trp chr18 13875079 13875082 VAR_003513 - Q01718:p.Arg146His chr18 13874764 13874767 VAR_015096 - Q01718:p.Cys251Phe chr18 13874755 13874758 VAR_015295 - Q01718:p.Tyr254Cys chr1 17894815 17894818 VAR_032079 + Q9H568:p.Ala3Ser chr1 17897951 17897954 VAR_032080 + Q9H568:p.Arg245Cys chr1 233240963 233240966 VAR_033487 + P35609:p.Met604Val chr19 43892765 43892768 VAR_010378 + O43707:p.Lys255Glu chr19 43892777 43892780 VAR_010379 + O43707:p.Thr259Ile chr19 43892786 43892789 VAR_010380 + O43707:p.Ser262Pro chr1 225875546 225875549 VAR_011680 - P68133:p.Gly17Arg chr1 225875471 225875474 VAR_015579 - P68133:p.His42Tyr chr1 225875203 225875206 VAR_011681 - P68133:p.Leu96Pro chr1 225875140 225875143 VAR_011682 - P68133:p.Asn117Ser chr1 225875089 225875092 VAR_013470 - P68133:p.Met134Val chr1 225875077 225875080 VAR_011683 - P68133:p.Ile138Met chr1 225874872 225874875 VAR_011684 - P68133:p.Val165Leu chr1 225874815 225874818 VAR_015580 - P68133:p.Gly184Asp chr1 225874812 225874815 VAR_015582 - P68133:p.Arg185Cys chr1 225874812 225874815 VAR_015581 - P68133:p.Arg185Gly chr1 225874614 225874617 VAR_032917 - P68133:p.Leu223Pro chr1 225874509 225874512 VAR_015583 - P68133:p.Arg258His chr1 225874500 225874503 VAR_011685 - P68133:p.Glu261Val chr1 225874488 225874491 VAR_015584 - P68133:p.Gln265Leu chr1 225874379 225874382 VAR_013471 - P68133:p.Met271Arg chr1 225874346 225874349 VAR_015585 - P68133:p.Asn282Lys chr1 225874328 225874331 VAR_015586 - P68133:p.Asp288Gly chr1 225874310 225874313 VAR_032918 - P68133:p.Asp294Val chr1 225874112 225874115 VAR_032919 - P68133:p.Pro334Ser chr1 225874037 225874040 VAR_015587 - P68133:p.Ile359Leu chr1 225873998 225874001 VAR_011687 - P68133:p.Val372Phe chr1 2962145 2962148 VAR_020416 + Q8TDY3:p.Gly247Arg chr2 97734368 97734371 VAR_025315 - P42025:p.Val93Ala chr12 50656481 50656484 VAR_041406 + P36896:p.Phe146Leu chr12 50666953 50666956 VAR_011716 + P36896:p.Leu408Val chr12 50593229 50593235 VAR_026784 + P37023:p.Gly48_Ala49delinsGluPro chr12 50593229 50593232 VAR_026785 + P37023:p.Gly48Arg chr12 50593235 50593238 VAR_006204 + P37023:p.Trp50Cys chr12 50593238 50593241 VAR_006205 + P37023:p.Cys51Tyr chr12 50593286 50593289 VAR_006206 + P37023:p.Arg67Gln chr12 50593286 50593289 VAR_026786 + P37023:p.Arg67Trp chr12 50593316 50593319 VAR_006207 + P37023:p.Cys77Trp chr12 50593373 50593376 VAR_006208 + P37023:p.Asn96Asp chr12 50594033 50594036 VAR_026787 + P37023:p.Asp179Ala chr12 50594494 50594497 VAR_026788 + P37023:p.Gly211Asp chr12 50594506 50594509 VAR_026789 + P37023:p.Glu215Lys chr12 50594530 50594533 VAR_026790 + P37023:p.Gly223Arg chr12 50594548 50594551 VAR_026791 + P37023:p.Lys229Arg chr12 50594557 50594560 VAR_006209 + P37023:p.232del chr12 50594560 50594563 VAR_026792 + P37023:p.233del chr12 50594596 50594599 VAR_011717 + P37023:p.Ile245Asn chr12 50594623 50594626 VAR_026793 + P37023:p.254del chr12 50595355 50595358 VAR_026794 + P37023:p.Leu285Phe chr12 50595418 50595421 VAR_026795 + P37023:p.Ala306Pro chr12 50595442 50595445 VAR_026796 + P37023:p.His314Tyr chr12 50595499 50595502 VAR_006210 + P37023:p.Ser333Ile chr12 50595511 50595514 VAR_026797 + P37023:p.Leu337Pro chr12 50595532 50595535 VAR_026798 + P37023:p.Cys344Tyr chr12 50595541 50595544 VAR_026799 + P37023:p.Ala347Pro chr12 50596157 50596160 VAR_026800 + P37023:p.Arg374Gln chr12 50596157 50596160 VAR_006211 + P37023:p.Arg374Trp chr12 50596163 50596166 VAR_006212 + P37023:p.Met376Arg chr12 50596163 50596166 VAR_026801 + P37023:p.Met376Val chr12 50596169 50596172 VAR_026802 + P37023:p.Pro378Leu chr12 50596172 50596175 VAR_026803 + P37023:p.Glu379Lys chr12 50596226 50596229 VAR_026804 + P37023:p.Asp397Gly chr12 50596229 50596232 VAR_026805 + P37023:p.Ile398Asn chr12 50596232 50596235 VAR_026806 + P37023:p.Trp399Ser chr12 50596256 50596259 VAR_026807 + P37023:p.Glu407Asp chr12 50596268 50596271 VAR_026808 + P37023:p.Arg411Pro chr12 50596268 50596271 VAR_006213 + P37023:p.Arg411Gln chr12 50596268 50596271 VAR_026809 + P37023:p.Arg411Trp chr12 50599058 50599061 VAR_006214 + P37023:p.Pro424Thr chr12 50599061 50599064 VAR_026810 + P37023:p.Phe425Leu chr12 50599061 50599064 VAR_026811 + P37023:p.Phe425Val chr12 50599061 50599064 VAR_026812 + P37023:p.425del chr12 50600866 50600869 VAR_026813 + P37023:p.Arg479Leu chr12 50600875 50600878 VAR_026814 + P37023:p.Ala482Val chr12 50600881 50600884 VAR_026815 + P37023:p.Arg484Trp chr12 50600890 50600893 VAR_026816 + P37023:p.Lys487Thr chr2 158481468 158481471 VAR_041392 - Q04771:p.Ala15Gly chr2 158462564 158462567 VAR_041393 - Q04771:p.Ser41Phe chr2 158462546 158462549 VAR_041394 - Q04771:p.His47Gln chr2 158460348 158460351 VAR_041395 - Q04771:p.Pro115Ser chr2 158456132 158456135 VAR_028444 - Q04771:p.Arg206His chr3 51996048 51996051 VAR_043113 + Q03154:p.Arg197Trp chr3 51996241 51996244 VAR_026104 + Q03154:p.Glu233Asp chr3 51997876 51997879 VAR_026105 + Q03154:p.Arg353Cys chr3 51998044 51998047 VAR_036076 + Q03154:p.Glu381Asp chr3 51998059 51998062 VAR_020452 + Q03154:p.Arg386Cys chr3 51998080 51998083 VAR_043114 + Q03154:p.Arg393His chr17 3326248 3326251 VAR_039079 + P45381:p.Ile16Thr chr17 3326263 3326266 VAR_016778 + P45381:p.His21Pro chr17 3326272 3326275 VAR_016782 + P45381:p.Glu24Gly chr17 3326281 3326284 VAR_039080 + P45381:p.Gly27Arg chr17 3326371 3326374 VAR_016779 + P45381:p.Ala57Thr chr17 3326404 3326407 VAR_016783 + P45381:p.Asp68Ala chr17 3331749 3331752 VAR_039081 + P45381:p.Asp114Glu chr17 3331749 3331752 VAR_016784 + P45381:p.Asp114Tyr chr17 3331776 3331779 VAR_039082 + P45381:p.Gly123Glu chr17 3331836 3331839 VAR_004995 + P45381:p.Ile143Thr chr17 3333563 3333566 VAR_004996 + P45381:p.Cys152Arg chr17 3333563 3333566 VAR_016785 + P45381:p.Cys152Trp chr17 3333563 3333566 VAR_039083 + P45381:p.Cys152Tyr chr17 3333611 3333614 VAR_039084 + P45381:p.Arg168Cys chr17 3333611 3333614 VAR_016780 + P45381:p.Arg168His chr17 3339292 3339295 VAR_016781 + P45381:p.Pro181Thr chr17 3339298 3339301 VAR_039085 + P45381:p.Pro183His chr17 3339307 3339310 VAR_039086 + P45381:p.Val186Phe chr17 3339334 3339337 VAR_039087 + P45381:p.Met195Arg chr17 3344449 3344452 VAR_016786 + P45381:p.Tyr231Cys chr17 3344488 3344491 VAR_016787 + P45381:p.His244Arg chr17 3348934 3348937 VAR_016788 + P45381:p.Asp249Val chr17 3349009 3349012 VAR_004998 + P45381:p.Gly274Arg chr17 3349027 3349030 VAR_039088 + P45381:p.Pro280Leu chr17 3349027 3349030 VAR_039089 + P45381:p.Pro280Ser chr17 3349042 3349045 VAR_004999 + P45381:p.Glu285Ala chr17 3349048 3349051 VAR_039090 + P45381:p.Ala287Thr chr17 3349072 3349075 VAR_005000 + P45381:p.Phe295Ser chr17 3349102 3349105 VAR_005001 + P45381:p.Ala305Glu chr17 3349117 3349120 VAR_039091 + P45381:p.Cys310Gly chr8 26778283 26778286 VAR_035756 - P35348:p.Gly40Trp chr8 26683942 26683945 VAR_019509 - P35348:p.Cys347Arg chr5 159276640 159276643 VAR_019510 + P35368:p.Val51Gly chr7 87209146 87209149 VAR_020057 + Q9P0K1:p.Pro81Arg chr10 112828539 112828542 VAR_014957 + P08913:p.Asn251Lys chr4 3806265 3806277 VAR_012747 + P18825:p.322_325del chr1 120149924 120149927 VAR_024597 - Q9UKF2:p.Leu359Pro chr20 3603679 3603682 VAR_030512 - Q9BZ11:p.Asn109Ser chr20 3603216 3603219 VAR_029143 - Q9BZ11:p.Thr178Ala chr20 3602480 3602483 VAR_030513 - Q9BZ11:p.Thr272Met chr20 3602262 3602265 VAR_030514 - Q9BZ11:p.Val316Ile chr20 3602125 3602128 VAR_030515 - Q9BZ11:p.Pro336Ser chr20 3602038 3602041 VAR_030516 - Q9BZ11:p.Ala365Ser chr20 3601261 3601264 VAR_030517 - Q9BZ11:p.Asp441Glu chr20 3600832 3600835 VAR_030518 - Q9BZ11:p.Trp515Arg chr20 3600296 3600299 VAR_030519 - Q9BZ11:p.Leu612His chr20 3599762 3599765 VAR_030520 - Q9BZ11:p.Val710Ile chr20 3599675 3599678 VAR_030521 - Q9BZ11:p.Cys739Gly chr20 3599666 3599669 VAR_030522 - Q9BZ11:p.Asp742Tyr chr20 3598232 3598235 VAR_021847 - Q9BZ11:p.Met764Thr chr20 3598202 3598205 VAR_029144 - Q9BZ11:p.Pro774Ser chr16 82782466 82782469 VAR_036976 + Q8NCV1:p.Gly44Glu chr16 82786670 82786673 VAR_036977 + Q8NCV1:p.Gly307Arg chr8 39814831 39814834 VAR_035217 - Q99965:p.Gly10Trp chr2 178152181 178152184 VAR_025895 + O00116:p.Thr309Ile chr2 178183403 178183406 VAR_005002 + O00116:p.Arg419His chr2 178189894 178189897 VAR_025896 + O00116:p.Leu469Pro chr16 74204183 74204186 VAR_032340 - Q9BUB4:p.His167Asn chr16 74204075 74204078 VAR_032341 - Q9BUB4:p.Thr203Asn chr19 1864087 1864090 VAR_035804 + Q96EY9:p.Arg332Cys chr20 42713638 42713641 VAR_002209 - P00813:p.Asp8Asn chr20 42698331 42698334 VAR_002210 - P00813:p.His15Asp chr20 42698316 42698319 VAR_002211 - P00813:p.Gly20Arg chr20 42688650 42688653 VAR_002212 - P00813:p.Gly74Cys chr20 42688644 42688647 VAR_002213 - P00813:p.Arg76Trp chr20 42688632 42688635 VAR_002214 - P00813:p.Lys80Arg chr20 42688623 42688626 VAR_002215 - P00813:p.Ala83Asp chr20 42688569 42688572 VAR_002216 - P00813:p.Arg101Leu chr20 42688569 42688572 VAR_002218 - P00813:p.Arg101Gln chr20 42688569 42688572 VAR_002217 - P00813:p.Arg101Trp chr20 42688551 42688554 VAR_002219 - P00813:p.Leu107Pro chr20 42687714 42687717 VAR_002220 - P00813:p.Val129Met chr20 42687681 42687684 VAR_002221 - P00813:p.Gly140Glu chr20 42687675 42687678 VAR_002222 - P00813:p.Arg142Gln chr20 42687654 42687657 VAR_002223 - P00813:p.Arg149Gln chr20 42687654 42687657 VAR_002224 - P00813:p.Arg149Trp chr20 42687645 42687648 VAR_002225 - P00813:p.Leu152Met chr20 42687633 42687636 VAR_002226 - P00813:p.Arg156Cys chr20 42687633 42687636 VAR_002227 - P00813:p.Arg156His chr20 42686331 42686334 VAR_002228 - P00813:p.Val177Met chr20 42686325 42686328 VAR_002229 - P00813:p.Ala179Asp chr20 42686265 42686268 VAR_002230 - P00813:p.Gln199Pro chr20 42685106 42685109 VAR_002231 - P00813:p.Arg211Cys chr20 42685106 42685109 VAR_002232 - P00813:p.Arg211His chr20 42685094 42685097 VAR_002233 - P00813:p.Ala215Thr chr20 42685091 42685094 VAR_002234 - P00813:p.Gly216Arg chr20 42684964 42684967 VAR_002235 - P00813:p.Thr233Ile chr20 42684665 42684668 VAR_002236 - P00813:p.Pro274Leu chr20 42683174 42683177 VAR_002237 - P00813:p.Ser291Leu chr20 42683156 42683159 VAR_002238 - P00813:p.Pro297Gln chr20 42683135 42683138 VAR_002239 - P00813:p.Leu304Arg chr20 42682444 42682447 VAR_002240 - P00813:p.Ala329Val chr20 42682420 42682423 VAR_002241 - P00813:p.337del chr7 139827232 139827235 VAR_029992 + Q7Z695:p.Ser307Pro chr7 139834067 139834070 VAR_041418 + Q7Z695:p.Val418Leu chr7 139834067 139834070 VAR_029993 + Q7Z695:p.Val418Met chr1 223459510 223459513 VAR_020319 + Q8NI60:p.His85Gln chr19 45911866 45911869 VAR_041420 - Q96D53:p.Arg78Cys chr19 45902894 45902897 VAR_029995 - Q96D53:p.His174Arg chr19 45898135 45898138 VAR_041421 - Q96D53:p.Thr318Met chr19 45897898 45897901 VAR_041422 - Q96D53:p.Thr352Arg chr19 45890028 45890031 VAR_041423 - Q96D53:p.Thr462Met chr8 145573919 145573922 VAR_029996 + Q3MIX3:p.Arg17Ser chr7 45472938 45472941 VAR_029186 + Q08828:p.Pro456Leu chr7 45521188 45521191 VAR_029187 + Q08828:p.Ala940Thr chr5 7573880 7573883 VAR_029012 + Q08462:p.Val147Leu chr8 132121521 132121524 VAR_029188 - P40145:p.Ala80Thr chr8 131917736 131917739 VAR_036328 - P40145:p.Phe881Leu chr16 3973436 3973439 VAR_023750 - O60503:p.Ile772Met chr4 2914663 2914666 VAR_022108 + P35611:p.Arg6Cys chr4 2936984 2936987 VAR_014863 + P35611:p.Tyr270Asn chr4 2938134 2938137 VAR_014864 + P35611:p.Glu376Asp chr4 2943714 2943717 VAR_014184 + P35611:p.Gly460Trp chr4 2947261 2947264 VAR_014865 + P35611:p.Asn510Ile chr4 2953768 2953771 VAR_014185 + P35611:p.Ser586Cys chr2 70845111 70845114 VAR_014866 - P35612:p.Asp28Asn chr2 70822497 70822500 VAR_014867 - P35612:p.Glu335Asp chr2 70817556 70817559 VAR_025318 - P35612:p.Thr439Ala chr2 70802403 70802406 VAR_014868 - P35612:p.Ser663Arg chr8 24307602 24307605 VAR_024598 + O15204:p.Met121Thr chr8 24317469 24317472 VAR_021848 + O15204:p.Asn444Ser chr4 100405562 100405565 VAR_023462 - P08319:p.Arg318His chr4 100488793 100488796 VAR_022655 - P28332:p.Cys102Gly chr4 100488757 100488760 VAR_022656 - P28332:p.Ile114Val chr4 100355107 100355110 VAR_025823 - P11766:p.Leu163Ser chr4 100353276 100353279 VAR_025824 - P11766:p.Val309Ile chr3 188054709 188054712 VAR_013273 + Q15848:p.Gly84Arg chr3 188054727 188054730 VAR_027395 + Q15848:p.Gly90Ser chr3 188054790 188054793 VAR_027396 + Q15848:p.Tyr111His chr3 188054793 188054796 VAR_013274 + Q15848:p.Arg112Cys chr3 188054808 188054811 VAR_013275 + Q15848:p.Val117Met chr3 188054949 188054952 VAR_013276 + Q15848:p.Ile164Thr chr3 188055120 188055123 VAR_013277 + Q15848:p.Arg221Ser chr3 188055180 188055183 VAR_013278 + Q15848:p.His241Pro chr22 42647822 42647825 VAR_015845 + Q9NST1:p.Cys99Gly chr22 42647870 42647873 VAR_015846 + Q9NST1:p.Gly115Cys chr22 42649625 42649628 VAR_019961 + Q9NST1:p.Ile148Met chr22 42667016 42667019 VAR_015847 + Q9NST1:p.Lys434Glu chr5 148186686 148186689 VAR_003454 + P07550:p.Val34Met chr5 148187061 148187064 VAR_009125 + P07550:p.Ile159Phe chr5 148187061 148187064 VAR_009124 + P07550:p.Ile159Leu chr5 148187076 148187079 VAR_003455 + P07550:p.Thr164Ile chr5 148187244 148187247 VAR_025101 + P07550:p.Ser220Cys chr5 148187709 148187712 VAR_009394 + P07550:p.Lys375Arg chr8 37942952 37942955 VAR_003456 - P13945:p.Trp64Arg chr8 37942397 37942400 VAR_029205 - P13945:p.Glu249Lys chr8 37942349 37942352 VAR_014166 - P13945:p.Thr265Met chr8 37942085 37942088 VAR_025102 - P13945:p.Arg353Cys chr17 70380643 70380646 VAR_025192 - P22570:p.Arg7Leu chr17 70374186 70374189 VAR_004624 - P22570:p.Arg123Gln chr17 70372618 70372621 VAR_025193 - P22570:p.Gly213Val chr17 70372254 70372257 VAR_025194 - P22570:p.Pro248Leu chr17 70372245 70372248 VAR_025195 - P22570:p.Arg251Trp chr17 70371963 70371966 VAR_025196 - P22570:p.Arg301Cys chr17 70371751 70371754 VAR_025197 - P22570:p.Thr345Met chr17 70371730 70371733 VAR_025198 - P22570:p.Pro352Ser chr17 70370593 70370596 VAR_025199 - P22570:p.Thr472Ala chr4 186441222 186441225 VAR_038814 + P12235:p.Ala90Asp chr4 186441246 186441249 VAR_022459 + P12235:p.Leu98Pro chr4 186441264 186441267 VAR_022460 + P12235:p.Asp104Gly chr4 186441294 186441297 VAR_012111 + P12235:p.Ala114Pro chr4 186441321 186441324 VAR_038815 + P12235:p.Ala123Asp chr4 186443241 186443244 VAR_012112 + P12235:p.Val289Met chr10 64234897 64234900 VAR_025333 + Q96SZ5:p.Gly25Trp chr10 64234939 64234942 VAR_025334 + Q96SZ5:p.Pro39Ala chr10 64235620 64235623 VAR_033691 + Q96SZ5:p.Pro266Ser chr9 137024558 137024561 VAR_035778 + Q6UXC1:p.Pro244Thr chr4 7920296 7920299 VAR_038578 - Q8N556:p.Ser403Cys chr4 7898650 7898653 VAR_038579 - Q8N556:p.Val518Met chr4 88325511 88325514 VAR_020370 + P51825:p.Pro209Ala chr4 88414008 88414011 VAR_036130 + P51825:p.Gln1204Lys chr12 37001198 37001201 VAR_023753 + Q5I7T1:p.Val447Ile chrX 100468976 100468979 VAR_012362 - P06280:p.Ala20Pro chrX 100468943 100468946 VAR_012363 - P06280:p.Ala31Val chrX 100468940 100468943 VAR_000431 - P06280:p.Leu32Pro chrX 100468934 100468937 VAR_000432 - P06280:p.Asn34Ser chrX 100468931 100468934 VAR_000433 - P06280:p.Gly35Arg chrX 100468916 100468919 VAR_012364 - P06280:p.Pro40Leu chrX 100468916 100468919 VAR_000434 - P06280:p.Pro40Ser chrX 100468910 100468913 VAR_012365 - P06280:p.Met42Val chrX 100468898 100468904 VAR_012366 - P06280:p.Leu45_His46delinsArgSer chrX 100468898 100468901 VAR_012367 - P06280:p.His46Arg chrX 100468898 100468901 VAR_012368 - P06280:p.His46Tyr chrX 100468895 100468898 VAR_012369 - P06280:p.Trp47Gly chrX 100468889 100468892 VAR_000435 - P06280:p.Arg49Leu chrX 100468889 100468892 VAR_012370 - P06280:p.Arg49Pro chrX 100468889 100468892 VAR_012371 - P06280:p.Arg49Ser chrX 100468880 100468883 VAR_000436 - P06280:p.Cys52Arg chrX 100468880 100468883 VAR_000437 - P06280:p.Cys52Ser chrX 100468868 100468871 VAR_000438 - P06280:p.Cys56Phe chrX 100468868 100468871 VAR_000439 - P06280:p.Cys56Gly chrX 100468868 100468871 VAR_012372 - P06280:p.Cys56Tyr chrX 100468859 100468862 VAR_000440 - P06280:p.Glu59Lys chrX 100465114 100465117 VAR_000441 - P06280:p.Glu66Gln chrX 100465096 100465099 VAR_000442 - P06280:p.Met72Val chrX 100465057 100465060 VAR_000443 - P06280:p.Gly85Asp chrX 100465054 100465057 VAR_012373 - P06280:p.Tyr86Cys chrX 100465045 100465048 VAR_012374 - P06280:p.Leu89Pro chrX 100465045 100465048 VAR_000444 - P06280:p.Leu89Arg chrX 100465039 100465042 VAR_012375 - P06280:p.Ile91Thr chrX 100465036 100465039 VAR_012376 - P06280:p.Asp92His chrX 100465036 100465039 VAR_012377 - P06280:p.Asp92Tyr chrX 100465033 100465036 VAR_012378 - P06280:p.Asp93Gly chrX 100465030 100465033 VAR_012379 - P06280:p.Cys94Ser chrX 100465030 100465033 VAR_012380 - P06280:p.Cys94Tyr chrX 100465027 100465030 VAR_012381 - P06280:p.Trp95Ser chrX 100465021 100465024 VAR_012382 - P06280:p.Ala97Val chrX 100465012 100465015 VAR_000445 - P06280:p.Arg100Lys chrX 100465012 100465015 VAR_012383 - P06280:p.Arg100Thr chrX 100464961 100464979 VAR_000446 - P06280:p.112_117del chrX 100464976 100464979 VAR_000447 - P06280:p.Arg112Cys chrX 100464976 100464979 VAR_000448 - P06280:p.Arg112His chrX 100464973 100464976 VAR_012384 - P06280:p.Phe113Leu chrX 100464973 100464976 VAR_012385 - P06280:p.Phe113Ser chrX 100464949 100464955 VAR_000449 - P06280:p.Leu120_Ala121delinsProThr chrX 100462927 100462930 VAR_000450 - P06280:p.Gly128Glu chrX 100462918 100462921 VAR_000451 - P06280:p.Leu131Pro chrX 100462909 100462912 VAR_012386 - P06280:p.Tyr134Ser chrX 100462897 100462900 VAR_012387 - P06280:p.Gly138Arg chrX 100462885 100462888 VAR_012388 - P06280:p.Cys142Arg chrX 100462885 100462888 VAR_000452 - P06280:p.Cys142Tyr chrX 100462882 100462885 VAR_000453 - P06280:p.Ala143Pro chrX 100462882 100462885 VAR_012389 - P06280:p.Ala143Thr chrX 100462879 100462882 VAR_000454 - P06280:p.Gly144Val chrX 100462873 100462876 VAR_000455 - P06280:p.Pro146Ser chrX 100462867 100462870 VAR_012390 - P06280:p.Ser148Asn chrX 100462867 100462870 VAR_012391 - P06280:p.Ser148Arg chrX 100462843 100462846 VAR_000456 - P06280:p.Ala156Thr chrX 100462843 100462846 VAR_000457 - P06280:p.Ala156Val chrX 100462825 100462828 VAR_012392 - P06280:p.Trp162Cys chrX 100462825 100462828 VAR_000458 - P06280:p.Trp162Arg chrX 100462822 100462825 VAR_012393 - P06280:p.Gly163Val chrX 100462816 100462819 VAR_000459 - P06280:p.Asp165Val chrX 100462813 100462816 VAR_000460 - P06280:p.Leu166Val chrX 100462801 100462804 VAR_012394 - P06280:p.Asp170Val chrX 100462795 100462798 VAR_012395 - P06280:p.Cys172Arg chrX 100462795 100462798 VAR_000461 - P06280:p.Cys172Tyr chrX 100461876 100461879 VAR_012397 - P06280:p.Met187Val chrX 100461831 100461834 VAR_000462 - P06280:p.Cys202Trp chrX 100461831 100461834 VAR_012398 - P06280:p.Cys202Tyr chrX 100461816 100461825 VAR_012399 - P06280:p.205_207del chrX 100461822 100461825 VAR_000463 - P06280:p.Pro205Thr chrX 100460073 100460076 VAR_000464 - P06280:p.Asn215Ser chrX 100460070 100460073 VAR_012400 - P06280:p.Tyr216Asp chrX 100460061 100460064 VAR_000465 - P06280:p.Ile219Asn chrX 100460049 100460052 VAR_012401 - P06280:p.Cys223Gly chrX 100460046 100460049 VAR_000466 - P06280:p.Asn224Asp chrX 100460046 100460049 VAR_012402 - P06280:p.Asn224Ser chrX 100460040 100460043 VAR_012403 - P06280:p.Trp226Arg chrX 100460037 100460040 VAR_000467 - P06280:p.Arg227Gln chrX 100460028 100460031 VAR_012404 - P06280:p.Ala230Thr chrX 100460025 100460028 VAR_000468 - P06280:p.Asp231Asn chrX 100460013 100460016 VAR_012405 - P06280:p.Ser235Cys chrX 100460010 100460013 VAR_012406 - P06280:p.Trp236Cys chrX 100460010 100460013 VAR_012407 - P06280:p.Trp236Leu chrX 100459992 100459995 VAR_012408 - P06280:p.Ile242Asn chrX 100459986 100459989 VAR_012409 - P06280:p.Asp244His chrX 100459986 100459989 VAR_000469 - P06280:p.Asp244Asn chrX 100459977 100459980 VAR_000470 - P06280:p.Ser247Ser chrX 100459944 100459947 VAR_012410 - P06280:p.Gly258Arg chrX 100459941 100459944 VAR_012411 - P06280:p.Pro259Leu chrX 100459941 100459944 VAR_012412 - P06280:p.Pro259Arg chrX 100459938 100459941 VAR_012413 - P06280:p.Gly260Ala chrX 100459935 100459938 VAR_012414 - P06280:p.Gly261Asp chrX 100459929 100459932 VAR_012415 - P06280:p.Asn263Ser chrX 100459926 100459929 VAR_000471 - P06280:p.Asp264Val chrX 100459923 100459926 VAR_012416 - P06280:p.Pro265Arg chrX 100459920 100459923 VAR_032291 - P06280:p.Asp266His chrX 100459920 100459923 VAR_012418 - P06280:p.Asp266Asn chrX 100459920 100459923 VAR_000472 - P06280:p.Asp266Val chrX 100459917 100459920 VAR_012419 - P06280:p.Met267Ile chrX 100459694 100459697 VAR_000473 - P06280:p.Val269Ala chrX 100459685 100459688 VAR_000474 - P06280:p.Asn272Lys chrX 100459685 100459688 VAR_032292 - P06280:p.Asn272Ser chrX 100459664 100459667 VAR_000475 - P06280:p.Gln279Glu chrX 100459664 100459667 VAR_012420 - P06280:p.Gln279His chrX 100459661 100459664 VAR_012421 - P06280:p.Gln280His chrX 100459649 100459652 VAR_000476 - P06280:p.Met284Thr chrX 100459640 100459643 VAR_012422 - P06280:p.Trp287Cys chrX 100459640 100459643 VAR_012423 - P06280:p.Trp287Gly chrX 100459637 100459640 VAR_000477 - P06280:p.Ala288Asp chrX 100459634 100459637 VAR_012424 - P06280:p.Ile289Phe chrX 100459613 100459616 VAR_012425 - P06280:p.Met296Ile chrX 100459613 100459616 VAR_000478 - P06280:p.Met296Val chrX 100459610 100459613 VAR_000479 - P06280:p.Ser297Phe chrX 100459607 100459610 VAR_012426 - P06280:p.Asn298His chrX 100459607 100459610 VAR_000480 - P06280:p.Asn298Lys chrX 100459607 100459610 VAR_012427 - P06280:p.Asn298Ser chrX 100459598 100459601 VAR_000481 - P06280:p.Arg301Gln chrX 100459562 100459565 VAR_000482 - P06280:p.Asp313Tyr chrX 100459535 100459556 VAR_012429 - P06280:p.316_322del chrX 100459553 100459556 VAR_000483 - P06280:p.Val316Glu chrX 100459541 100459544 VAR_012430 - P06280:p.Asn320Lys chrX 100459541 100459544 VAR_012431 - P06280:p.Asn320Tyr chrX 100459538 100459541 VAR_012432 - P06280:p.Gln321Glu chrX 100459520 100459523 VAR_000484 - P06280:p.Gln327Lys chrX 100459517 100459520 VAR_000486 - P06280:p.Gly328Ala chrX 100459517 100459520 VAR_000485 - P06280:p.Gly328Arg chrX 100459211 100459214 VAR_012433 - P06280:p.Trp340Arg chrX 100459208 100459211 VAR_012434 - P06280:p.Glu341Lys chrX 100459205 100459208 VAR_000487 - P06280:p.Arg342Gln chrX 100459163 100459166 VAR_000488 - P06280:p.Arg356Trp chrX 100459157 100459160 VAR_000489 - P06280:p.Glu358Lys chrX 100459157 100459160 VAR_000490 - P06280:p.358del chrX 100459148 100459151 VAR_000491 - P06280:p.Gly361Arg chrX 100459142 100459145 VAR_012435 - P06280:p.Arg363His chrX 100459112 100459115 VAR_012436 - P06280:p.Gly373Asp chrX 100459112 100459115 VAR_012437 - P06280:p.Gly373Ser chrX 100459100 100459103 VAR_012438 - P06280:p.Ala377Asp chrX 100459097 100459100 VAR_012439 - P06280:p.Cys378Tyr chrX 100459082 100459085 VAR_000492 - P06280:p.383del chrX 100459043 100459046 VAR_000493 - P06280:p.Phe396Tyr chrX 100459019 100459022 VAR_000494 - P06280:p.404del chrX 100459004 100459007 VAR_012440 - P06280:p.Pro409Ala chrX 100459004 100459007 VAR_012441 - P06280:p.Pro409Thr chrX 100459001 100459004 VAR_032293 - P06280:p.Thr410Ala chr5 76367204 76367207 VAR_017901 + Q8N302:p.Glu133Lys chr5 76368157 76368160 VAR_037446 + Q8N302:p.Thr180Ala chr5 76384331 76384334 VAR_037447 + Q8N302:p.Leu471Pro chr5 76394779 76394782 VAR_017902 + Q8N302:p.Pro698Thr chr7 140708456 140708459 VAR_027848 + Q53H12:p.Val3Met chr6 83936883 83936886 VAR_013489 - O95394:p.Asp466Asn chr16 66074443 66074446 VAR_015385 - O00253:p.Ala67Thr chr5 35075241 35075244 VAR_023483 - Q9BYV1:p.Ser102Asn chr5 35072869 35072872 VAR_022140 - Q9BYV1:p.Val140Ile chr5 35069360 35069363 VAR_022141 - Q9BYV1:p.Thr212Ile chr5 35034631 35034634 VAR_029513 - Q9BYV1:p.Val498Leu chr3 149941661 149941664 VAR_011846 + P30556:p.Leu48Val chr3 149942006 149942009 VAR_029206 + P30556:p.Ala163Thr chr3 149942249 149942252 VAR_029207 + P30556:p.Ala244Ser chr3 149942363 149942366 VAR_035086 + P30556:p.Thr282Met chr3 149942384 149942387 VAR_011847 + P30556:p.Cys289Trp chr3 149942525 149942528 VAR_011848 + P30556:p.Thr336Pro chrX 115116156 115116159 VAR_011849 + P50052:p.Arg248Lys chrX 115116216 115116219 VAR_011850 + P50052:p.Cys268Trp chr1 27559963 27559966 VAR_037765 - Q5TGY3:p.Ala935Thr chr6 135830453 135830456 VAR_037892 - Q8N157:p.Ile49Asn chr6 135818579 135818582 VAR_023391 - Q8N157:p.Val443Asp chr6 135809973 135809976 VAR_037893 - Q8N157:p.Arg548His chr6 135795954 135795957 VAR_037894 - Q8N157:p.Arg723Gln chr6 135794128 135794131 VAR_037895 - Q8N157:p.Ser761Leu chr6 135792714 135792717 VAR_037896 - Q8N157:p.Arg830Trp chr6 135791514 135791517 VAR_037897 - Q8N157:p.Thr856Ser chr6 135774340 135774343 VAR_037898 - Q8N157:p.Tyr933Cys chr6 135757661 135757664 VAR_037899 - Q8N157:p.Gln1018Pro chr6 135681406 135681409 VAR_037900 - Q8N157:p.Ser1123Phe chr6 135681355 135681358 VAR_037901 - Q8N157:p.Pro1140Ser chr7 17152237 17152240 VAR_015516 + P35869:p.Pro517Ser chr7 17152348 17152351 VAR_009281 + P35869:p.Arg554Lys chr7 17152396 17152399 VAR_009282 + P35869:p.Val570Ile chr7 17153044 17153047 VAR_015517 + P35869:p.Met786Val chr12 8650811 8650814 VAR_013774 - Q9GZX7:p.Arg24Trp chr12 8650808 8650811 VAR_014091 - Q9GZX7:p.Arg25Cys chr12 8649264 8649267 VAR_013775 - Q9GZX7:p.Trp80Arg chr12 8649186 8649189 VAR_013776 - Q9GZX7:p.Leu106Pro chr12 8649087 8649090 VAR_013777 - Q9GZX7:p.Met139Val chr12 8648759 8648762 VAR_013778 - Q9GZX7:p.Phe151Ser chr1 155856266 155856269 VAR_022022 - O14862:p.Glu32Lys chr1 155846441 155846444 VAR_043379 - O14862:p.Cys304Tyr chr10 105027285 105027288 VAR_036369 + Q16352:p.Glu110Gln chr10 105027402 105027405 VAR_033497 + Q16352:p.Asp149His chr17 6277968 6277971 VAR_010140 - Q9NZN9:p.Asp90His chr17 6270725 6270728 VAR_010139 - Q9NZN9:p.Cys239Arg chr21 44530359 44530362 VAR_026480 + O43918:p.Arg15Cys chr21 44530359 44530362 VAR_013713 + O43918:p.Arg15Leu chr21 44530362 44530365 VAR_013714 + O43918:p.Thr16Met chr21 44530377 44530380 VAR_026481 + O43918:p.Ala21Val chr21 44530380 44530386 VAR_026482 + O43918:p.22_23del chr21 44530398 44530401 VAR_005004 + O43918:p.Leu28Pro chr21 44530401 44530404 VAR_013715 + O43918:p.Leu29Pro chr21 44530963 44530966 VAR_026483 + O43918:p.Phe77Ser chr21 44530966 44530969 VAR_013716 + O43918:p.Trp78Arg chr21 44530972 44530975 VAR_013717 + O43918:p.Val80Leu chr21 44530981 44530984 VAR_005005 + O43918:p.Lys83Glu chr21 44530987 44530990 VAR_013718 + O43918:p.Tyr85Cys chr21 44531002 44531005 VAR_013719 + O43918:p.Tyr90Cys chr21 44531011 44531014 VAR_013720 + O43918:p.Leu93Arg chr21 44533996 44533999 VAR_014422 + O43918:p.Gly228Trp chr21 44534068 44534071 VAR_026484 + O43918:p.Pro252Leu chr21 44534331 44534334 VAR_005006 + O43918:p.Ser278Arg chr21 44535426 44535429 VAR_013721 + O43918:p.Val301Met chr21 44535438 44535441 VAR_013722 + O43918:p.Gly305Ser chr21 44535456 44535459 VAR_013723 + O43918:p.Cys311Tyr chr21 44535501 44535504 VAR_026485 + O43918:p.Pro326Leu chr21 44535501 44535504 VAR_013724 + O43918:p.Pro326Gln chr21 44542014 44542017 VAR_026486 + O43918:p.Pro539Leu chr1 4683089 4683092 VAR_031821 + Q9UKB5:p.Gly263Arg chr7 133673938 133673941 VAR_020077 + O60218:p.Pro87Ser chr7 133680971 133680974 VAR_020078 + O60218:p.Met286Thr chr10 5030870 5030873 VAR_014748 - P52895:p.Leu172Gln chr10 5128712 5128715 VAR_032767 + P42330:p.Arg66Gln chr10 5131578 5131581 VAR_032768 + P42330:p.Arg170Cys chr10 5131593 5131596 VAR_013289 + P42330:p.Met175Ile chr10 5131608 5131611 VAR_032769 + P42330:p.Pro180Ser chr10 5237752 5237755 VAR_028240 + P17516:p.Gly135Glu chr10 5237782 5237785 VAR_013290 + P17516:p.Ser145Cys chr10 5238297 5238300 VAR_028241 + P17516:p.Cys170Tyr chr10 5250681 5250684 VAR_013291 + P17516:p.Leu311Val chr7 137233822 137233825 VAR_033007 + P51857:p.Leu106Pro chr7 137248620 137248623 VAR_033008 + P51857:p.Pro198Leu chr17 19802048 19802051 VAR_024607 - O43572:p.Arg249His chr17 19753130 19753133 VAR_024608 - O43572:p.Ile646Val chr13 41773042 41773045 VAR_020131 + Q9UKA4:p.Ser721Cys chr6 131508173 131508176 VAR_024246 + Q9P0M2:p.Glu4Lys chr6 131562346 131562349 VAR_024247 + Q9P0M2:p.Ser193Asn chr17 52538001 52538004 VAR_024512 + Q92667:p.Val60Met chr12 4595234 4595237 VAR_036428 - O75969:p.Arg831Cys chrX 49660380 49660383 VAR_027266 - Q5JQC9:p.Ala673Gly chr14 32084618 32084621 VAR_028171 + Q13023:p.Ala337Val chr14 32084831 32084834 VAR_028172 + Q13023:p.Asn408Ser chr14 32139746 32139749 VAR_035781 + Q13023:p.Lys910Met chr14 32312835 32312838 VAR_035782 + Q13023:p.Met1192Ile chr14 32361243 32361246 VAR_028173 + Q13023:p.Ala1492Val chr14 32361873 32361876 VAR_035783 + Q13023:p.Glu1702Gln chr14 32362284 32362287 VAR_035784 + Q13023:p.Pro1839Thr chr14 32362872 32362875 VAR_028174 + Q13023:p.Asn2035Asp chr14 32363280 32363283 VAR_028175 + Q13023:p.Phe2171Tyr chr14 32363394 32363397 VAR_028176 + Q13023:p.Asp2209His chr19 15326812 15326815 VAR_036534 - O43823:p.Gln664His chr7 91275268 91275271 VAR_024249 + Q99996:p.Met475Ile chr7 91296828 91296831 VAR_010926 + Q99996:p.Lys1347Lys chr7 91314653 91314656 VAR_043489 + Q99996:p.Ser1582Leu chr7 91353322 91353325 VAR_035785 + Q99996:p.Met2421Ile chr7 91353547 91353550 VAR_043490 + Q99996:p.Lys2496Arg chr7 91357347 91357350 VAR_030162 + Q99996:p.Asn2804Ser chr7 91359561 91359564 VAR_030163 + Q99996:p.Pro2983Ser chr7 91370812 91370815 VAR_035786 + Q99996:p.Glu3301Gln chr7 91371253 91371256 VAR_043491 + Q99996:p.Gln3448Arg chr7 91373777 91373780 VAR_043492 + Q99996:p.Met3618Val chr7 91672689 91672692 VAR_030862 + Q9P2G1:p.Leu1016Met chr1_random 385722 385725 VAR_020132 + Q9NWT8:p.Gln107His chr19 55068223 55068226 VAR_028239 - Q96B36:p.Ala47Pro chr9 72770055 72770058 VAR_017778 - P00352:p.Ile177Phe chr15 99263337 99263340 VAR_019706 + P47895:p.Met386Val chr9 38386000 38386003 VAR_002257 + P30837:p.Ala86Val chr9 38386348 38386351 VAR_029891 + P30837:p.Thr202Ile chr3 46704758 46704761 VAR_037791 - Q60I27:p.Glu45Gln chr3 46700487 46700490 VAR_037792 - Q60I27:p.Gln280Glu chr3 46694781 46694784 VAR_037793 - Q60I27:p.Leu576Phe chr2 202293453 202293456 VAR_035787 - Q53TS8:p.Lys123Met chr2 202235805 202235808 VAR_024769 - Q53TS8:p.His376Gln chr17 19493008 19493011 VAR_017510 + P51648:p.Ile45Phe chr17 19495487 19495490 VAR_017511 + P51648:p.Val64Asp chr17 19495613 19495616 VAR_002249 + P51648:p.Leu106Arg chr17 19495637 19495640 VAR_017512 + P51648:p.Pro114Leu chr17 19495658 19495661 VAR_017513 + P51648:p.Pro121Leu chr17 19500348 19500351 VAR_017514 + P51648:p.Thr184Met chr17 19500348 19500351 VAR_017515 + P51648:p.Thr184Arg chr17 19500351 19500354 VAR_017516 + P51648:p.Gly185Ala chr17 19500438 19500441 VAR_002250 + P51648:p.Cys214Tyr chr17 19500474 19500477 VAR_002251 + P51648:p.Cys226Trp chr17 19501650 19501653 VAR_017517 + P51648:p.Arg228Cys chr17 19501677 19501680 VAR_017518 + P51648:p.Cys237Tyr chr17 19501701 19501704 VAR_002252 + P51648:p.Asp245Asn chr17 19501764 19501767 VAR_017519 + P51648:p.Lys266Asn chr17 19505067 19505070 VAR_017520 + P51648:p.Tyr279Asn chr17 19507239 19507242 VAR_002254 + P51648:p.Pro315Ser chr17 19507278 19507281 VAR_017521 + P51648:p.Met328Ile chr17 19507389 19507392 VAR_002255 + P51648:p.Ser365Leu chr17 19508900 19508903 VAR_017522 + P51648:p.Asn386Ser chr17 19515633 19515636 VAR_017523 + P51648:p.Gly406Arg chr17 19515648 19515651 VAR_017524 + P51648:p.His411Tyr chr17 19515651 19515654 VAR_002256 + P51648:p.Gly412Arg chr17 19515660 19515663 VAR_017525 + P51648:p.Ser415Asn chr17 19515672 19515675 VAR_017526 + P51648:p.Phe419Ser chr17 19515684 19515687 VAR_017527 + P51648:p.Arg423His chr17 19515756 19515759 VAR_017528 + P51648:p.Lys447Glu chr1 18974275 18974278 VAR_002259 - P30038:p.Pro16Leu chr1 18949296 18949299 VAR_002260 - P30038:p.Ser352Leu chr1 18947231 18947234 VAR_029337 - P30038:p.Val470Ile chr5 125940722 125940725 VAR_031718 - P49419:p.Ala171Val chr5 125915692 125915695 VAR_028202 - P49419:p.Thr384Ala chr5 125915647 125915650 VAR_031719 - P49419:p.Glu399Gln chr5 125915611 125915614 VAR_028203 - P49419:p.Lys411Gln chr6 135281503 135281506 VAR_037618 - Q9H2A2:p.Phe402Ser chr8 145700534 145700537 VAR_000561 + P24298:p.His14Asn chr4 74635145 74635148 VAR_000499 + P02768:p.Arg23Cys chr4 74635145 74635148 VAR_000500 + P02768:p.Arg23His chr4 74635148 74635151 VAR_000501 + P02768:p.Arg24Leu chr4 74635148 74635151 VAR_000502 + P02768:p.Arg24Pro chr4 74635148 74635151 VAR_000503 + P02768:p.Arg24Gln chr4 74635151 74635154 VAR_000504 + P02768:p.Asp25Val chr4 74635157 74635158 VAR_000505 + P02768:p.His27Gln chr4 74635867 74635869 VAR_000505 + P02768:p.His27Gln chr4 74635157 74635158 VAR_000506 + P02768:p.His27Tyr chr4 74635867 74635869 VAR_000506 + P02768:p.His27Tyr chr4 74637459 74637462 VAR_010657 + P02768:p.Phe73Tyr chr4 74637492 74637495 VAR_000507 + P02768:p.Glu84Lys chr4 74637501 74637504 VAR_000508 + P02768:p.Asp87Asn chr4 74637510 74637513 VAR_013011 + P02768:p.Leu90Pro chr4 74639390 74639393 VAR_000509 + P02768:p.Glu106Lys chr4 74639435 74639438 VAR_014290 + P02768:p.Glu121Gly chr4 74639486 74639489 VAR_000510 + P02768:p.Arg138Gly chr4 74639501 74639504 VAR_000511 + P02768:p.Glu143Lys chr4 74639510 74639513 VAR_013012 + P02768:p.Val146Glu chr4 74639528 74639531 VAR_000512 + P02768:p.His152Arg chr4 74640224 74640227 VAR_000513 + P02768:p.Cys201Phe chr4 74641090 74641093 VAR_014291 + P02768:p.Ala215Thr chr4 74641090 74641093 VAR_014292 + P02768:p.Ala215Val chr4 74641105 74641108 VAR_014293 + P02768:p.Gln220Leu chr4 74642757 74642760 VAR_000514 + P02768:p.Arg242His chr4 74642757 74642760 VAR_013013 + P02768:p.Arg242Pro chr4 74642778 74642781 VAR_000515 + P02768:p.Lys249Gln chr4 74642823 74642826 VAR_000516 + P02768:p.Lys264Glu chr4 74644201 74644204 VAR_000517 + P02768:p.Gln292Arg chr4 74644204 74644207 VAR_000518 + P02768:p.Asp293Gly chr4 74644225 74644228 VAR_000519 + P02768:p.Lys300Asn chr4 74644336 74644339 VAR_000520 + P02768:p.Lys337Asn chr4 74644339 74644342 VAR_013014 + P02768:p.Asp338Gly chr4 74644339 74644342 VAR_013015 + P02768:p.Asp338Val chr4 74644351 74644354 VAR_000521 + P02768:p.Asn342Lys chr4 74644357 74644360 VAR_000522 + P02768:p.Ala344Thr chr4 74644360 74644363 VAR_000523 + P02768:p.Glu345Lys chr4 74645796 74645799 VAR_000524 + P02768:p.Glu357Lys chr4 74645859 74645862 VAR_000525 + P02768:p.Glu378Lys chr4 74645871 74645874 VAR_000526 + P02768:p.Glu382Lys chr4 74645874 74645877 VAR_013016 + P02768:p.Lys383Asn chr4 74645892 74645895 VAR_000527 + P02768:p.Asp389His chr4 74645892 74645895 VAR_000528 + P02768:p.Asp389Val chr4 74645913 74645916 VAR_000529 + P02768:p.Lys396Glu chr4 74647010 74647013 VAR_000530 + P02768:p.Asp399Asn chr4 74647013 74647016 VAR_000531 + P02768:p.Glu400Lys chr4 74647013 74647016 VAR_000532 + P02768:p.Glu400Gln chr4 74647031 74647034 VAR_000533 + P02768:p.Glu406Lys chr4 74647073 74647076 VAR_014294 + P02768:p.Glu420Lys chr4 74648292 74648295 VAR_013017 + P02768:p.Arg434Cys chr4 74648878 74648881 VAR_014295 + P02768:p.Lys490Glu chr4 74648917 74648920 VAR_000534 + P02768:p.Glu503Lys chr4 74648962 74648965 VAR_000535 + P02768:p.Asp518Asn chr4 74648983 74648986 VAR_000536 + P02768:p.Glu525Lys chr4 74648995 74648998 VAR_000537 + P02768:p.Glu529Lys chr4 74650274 74650277 VAR_013018 + P02768:p.Val557Met chr4 74650283 74650286 VAR_000538 + P02768:p.Lys560Glu chr4 74650298 74650301 VAR_000539 + P02768:p.Lys565Glu chr4 74650325 74650328 VAR_000541 + P02768:p.Asp574Ala chr4 74650325 74650328 VAR_000540 + P02768:p.Asp574Gly chr4 74650355 74650358 VAR_013019 + P02768:p.Lys584Glu chr4 74650364 74650367 VAR_000542 + P02768:p.Asp587Asn chr4 74650370 74650373 VAR_000543 + P02768:p.Glu589Lys chr4 74650385 74650388 VAR_000544 + P02768:p.Glu594Lys chr4 74651005 74651047 VAR_000547 + P02768:p.Gly596_Leu609delinsProThrMetArgIleArgGluArgLys chr4 74651008 74651011 VAR_000545 + P02768:p.Lys597Glu chr4 74651011 74651014 VAR_000546 + P02768:p.Lys598Asn chr4 74651014 74651047 VAR_012981 + P02768:p.Leu599_Leu609delins chr12 110693231 110693234 VAR_011869 + P05091:p.Glu337Val chr12 110704461 110704464 VAR_011302 + P05091:p.Glu496Lys chr12 110704485 110704488 VAR_002248 + P05091:p.Glu504Lys chr16 29987644 29987647 VAR_000550 + P04075:p.Asp129Gly chr9 101271693 101271696 VAR_020822 - P05062:p.Ile74Thr chr9 101270321 101270327 VAR_020823 - P05062:p.120_121del chr9 101269456 101269459 VAR_038429 - P05062:p.Arg134Ser chr9 101269453 101269456 VAR_000551 - P05062:p.Cys135Arg chr9 101269414 101269417 VAR_000552 - P05062:p.Trp148Arg chr9 101269408 101269411 VAR_000553 - P05062:p.Ala150Pro chr9 101269333 101269336 VAR_000554 - P05062:p.Ala175Asp chr9 101268460 101268463 VAR_020824 - P05062:p.Pro185Arg chr9 101268394 101268397 VAR_020825 - P05062:p.Glu207Gln chr9 101267422 101267425 VAR_020826 - P05062:p.Val222Phe chr9 101267401 101267404 VAR_020827 - P05062:p.Leu229Pro chr9 101267317 101267320 VAR_000555 - P05062:p.Leu257Pro chr9 101266874 101266877 VAR_038430 - P05062:p.Ile268Asn chr9 101266766 101266769 VAR_020828 - P05062:p.Arg304Gln chr9 101266766 101266769 VAR_000556 - P05062:p.Arg304Trp chr9 101263735 101263738 VAR_000557 - P05062:p.Asn335Lys chr9 101263726 101263729 VAR_000558 - P05062:p.Ala338Val chr7 133601024 133601027 VAR_014743 - P15121:p.Ile15Phe chr7 133593700 133593703 VAR_014744 - P15121:p.His42Leu chr7 133593607 133593610 VAR_014745 - P15121:p.Leu73Val chr7 133590440 133590443 VAR_014746 - P15121:p.Gly204Ser chr7 133587288 133587291 VAR_014747 - P15121:p.Thr288Ile chr22 48627987 48627990 VAR_017904 - Q9BV10:p.Thr67Met chr22 48625108 48625111 VAR_038428 - Q9BV10:p.Gly101Arg chr22 48624985 48624988 VAR_017905 - Q9BV10:p.Phe142Val chr22 48624973 48624976 VAR_017906 - Q9BV10:p.Arg146Gln chr22 48624592 48624595 VAR_017907 - Q9BV10:p.Leu158Pro chr22 48618746 48618749 VAR_024466 - Q9BV10:p.Ile393Val chr1 95250433 95250436 VAR_029635 - Q96F25:p.Val14Met chr16 5072592 5072595 VAR_023365 + Q9BT22:p.Ser258Leu chr3 185446080 185446083 VAR_037805 - Q92685:p.Ile107Val chr3 185446047 185446050 VAR_010306 - Q92685:p.Gly118Asp chr3 185445779 185445782 VAR_037806 - Q92685:p.Arg171Gln chr11 77516084 77516087 VAR_023480 - Q9BVK2:p.Thr47Pro chr11 77502966 77502969 VAR_023481 - Q9BVK2:p.Asn222Ser chr11 77501416 77501419 VAR_023482 - Q9BVK2:p.Gly275Asp chr11 77492705 77492708 VAR_031596 - Q9BVK2:p.Ile439Thr chr11 43879671 43879674 VAR_026632 + Q96Q83:p.Arg164Cys chr11 43897175 43897178 VAR_026631 + Q96Q83:p.Asp228Glu chr2 30054906 30054909 VAR_041477 - Q9UM73:p.Ser90Leu chr2 30054687 30054690 VAR_041478 - Q9UM73:p.Val163Leu chr2 29829430 29829433 VAR_041479 - Q9UM73:p.Glu296Gln chr2 29455385 29455388 VAR_041480 - Q9UM73:p.Val476Ala chr2 29431541 29431544 VAR_041481 - Q9UM73:p.Leu560Phe chr2 29409616 29409619 VAR_041482 - Q9UM73:p.Thr680Ile chr2 29385713 29385716 VAR_041483 - Q9UM73:p.Ala704Thr chr2 29366821 29366824 VAR_041484 - Q9UM73:p.Ala877Ser chr2 29361469 29361472 VAR_041485 - Q9UM73:p.Thr1012Met chr2 29357120 29357123 VAR_041486 - Q9UM73:p.Gly1121Asp chr2 29344316 29344319 VAR_041487 - Q9UM73:p.Ala1274Thr chr2 29332147 29332150 VAR_041488 - Q9UM73:p.Met1328Leu chr2 29328355 29328358 VAR_041489 - Q9UM73:p.Lys1416Asn chr2 29328346 29328349 VAR_041490 - Q9UM73:p.Glu1419Lys chr2 29328316 29328319 VAR_041491 - Q9UM73:p.Gln1429Arg chr2 29328130 29328133 VAR_031043 - Q9UM73:p.Lys1491Arg chr2 29328016 29328019 VAR_031044 - Q9UM73:p.Asp1529Glu chr4 113661234 113661237 VAR_041511 + Q96QP1:p.Gln67Arg chr4 113702750 113702753 VAR_028982 + Q96QP1:p.Asn175Asp chr4 113707986 113707989 VAR_041512 + Q96QP1:p.Thr292Met chr4 113709264 113709267 VAR_041513 + Q96QP1:p.Leu320Met chr4 113709321 113709324 VAR_041514 + Q96QP1:p.Lys339Glu chr4 113709453 113709456 VAR_041515 + Q96QP1:p.Lys383Glu chr4 113710230 113710233 VAR_028984 + Q96QP1:p.His642Arg chr4 113710284 113710287 VAR_041516 + Q96QP1:p.Pro660Leu chr4 113710347 113710350 VAR_041517 + Q96QP1:p.Gly681Asp chr4 113710914 113710917 VAR_028987 + Q96QP1:p.Gly870Ser chr4 113710923 113710926 VAR_041518 + Q96QP1:p.Arg873Ile chr4 113711034 113711037 VAR_041519 + Q96QP1:p.Glu910Asp chr4 113711052 113711055 VAR_028988 + Q96QP1:p.Asn916Asp chr4 113711109 113711112 VAR_041520 + Q96QP1:p.Pro935Leu chr4 113717304 113717307 VAR_041521 + Q96QP1:p.Arg1084Gln chr4 113717403 113717406 VAR_041522 + Q96QP1:p.Leu1117Pro chr4 113718571 113718574 VAR_041523 + Q96QP1:p.Ala1160Gly chr15 83183309 83183312 VAR_041524 + Q96L96:p.Arg336His chr15 83183315 83183318 VAR_041525 + Q96L96:p.Thr338Ile chr15 83184147 83184150 VAR_028989 + Q96L96:p.Thr414Ser chr15 83184204 83184207 VAR_041526 + Q96L96:p.Gln433Glu chr15 83184642 83184645 VAR_028990 + Q96L96:p.Gly579Glu chr15 83184711 83184714 VAR_041527 + Q96L96:p.Gln602Arg chr15 83184894 83184897 VAR_041528 + Q96L96:p.Gly663Asp chr15 83200647 83200650 VAR_028991 + Q96L96:p.Thr761Met chr15 83200872 83200875 VAR_041529 + Q96L96:p.Arg836Leu chr15 83201151 83201154 VAR_041530 + Q96L96:p.Glu929Asp chr15 83202456 83202459 VAR_041531 + Q96L96:p.Gly1364Glu chr15 83202600 83202603 VAR_041532 + Q96L96:p.Arg1412Trp chr15 83204107 83204110 VAR_041533 + Q96L96:p.Ala1557Asp chr15 83206997 83207000 VAR_028993 + Q96L96:p.Leu1622Pro chr16 1780925 1780928 VAR_022034 - P35858:p.Pro498Ser chr16 1780775 1780778 VAR_022035 - P35858:p.Arg548Trp chr11 44253596 44253599 VAR_010785 - Q9H161:p.Arg218Gln chr11 44245709 44245712 VAR_010897 - Q9H161:p.Arg272Pro chr4 71639818 71639821 VAR_014066 + Q9NP70:p.Met11Thr chr4 71652922 71652925 VAR_014067 + Q9NP70:p.Leu354Pro chr4 71653048 71653054 VAR_014068 + Q9NP70:p.Arg396_Thr397delinsGlyAla chr4 71653177 71653180 VAR_014069 + Q9NP70:p.His439Arg chrX 11072574 11072577 VAR_037581 + Q99217:p.Trp4Ser chrX 11072577 11072589 VAR_000559 + Q99217:p.Ile5_Ala8delinsThr chrX 11076018 11076021 VAR_037582 + Q99217:p.Thr37Ile chrX 11076345 11076348 VAR_037583 + Q99217:p.Pro56Thr chr16 54954438 54954441 VAR_035790 - Q9UKV5:p.Asp605Val chr12 52104448 52104451 VAR_015525 + Q16671:p.Arg54Cys chr12 52104950 52104951 VAR_015526 + Q16671:p.Gly142Val chr12 52105215 52105217 VAR_015526 + Q16671:p.Gly142Val chr12 52105961 52105964 VAR_015527 + Q16671:p.His282Gln chr12 52109956 52109959 VAR_015528 + Q16671:p.Arg406Gln chr12 52110016 52110019 VAR_015529 + Q16671:p.Asp426Gly chr12 52110237 52110264 VAR_031057 + Q16671:p.444_452del chr12 52110279 52110282 VAR_015530 + Q16671:p.Val458Ala chr12 52111272 52111275 VAR_015531 + Q16671:p.Asp491His chr12 52111311 52111314 VAR_015532 + Q16671:p.Arg504Cys chr11 94242060 94242063 VAR_033498 + Q8IY63:p.Pro847Leu chr1 114943294 114943297 VAR_013270 - P23109:p.Pro48Leu chr1 114932632 114932635 VAR_013271 - P23109:p.Arg388Trp chr1 114932126 114932129 VAR_013272 - P23109:p.Arg425His chr1 114928646 114928649 VAR_035801 - P23109:p.Pro633His chr11 10460311 10460314 VAR_033499 + Q01432:p.Arg185Trp chr11 10465475 10465478 VAR_042606 + Q01432:p.Asn310Lys chr11 10465478 10465481 VAR_042607 + Q01432:p.Val311Leu chr11 10471489 10471492 VAR_042608 + Q01432:p.Ala320Val chr11 10471501 10471504 VAR_042609 + Q01432:p.Met324Thr chr11 10471522 10471525 VAR_042610 + Q01432:p.Arg331Cys chr11 10473090 10473093 VAR_042611 + Q01432:p.Arg402Cys chr11 10473773 10473776 VAR_042612 + Q01432:p.Trp450Arg chr11 10473788 10473791 VAR_042613 + Q01432:p.Tyr455His chr11 10478367 10478370 VAR_009881 + Q01432:p.Arg573Cys chr11 10479623 10479626 VAR_042614 + Q01432:p.Pro585Leu chr11 10483836 10483839 VAR_042615 + Q01432:p.Gln712Pro chr15 88150758 88150761 VAR_031262 - P15144:p.Val20Met chr15 88150560 88150563 VAR_014736 - P15144:p.Arg86Gln chr15 88149586 88149589 VAR_006727 - P15144:p.Asp242Tyr chr15 88149583 88149586 VAR_006728 - P15144:p.Leu243Pro chr15 88148816 88148819 VAR_031263 - P15144:p.Ala311Val chr15 88148786 88148789 VAR_031264 - P15144:p.Thr321Met chr15 88145355 88145358 VAR_031265 - P15144:p.Ile603Lys chr15 88145355 88145358 VAR_031266 - P15144:p.Ile603Met chr15 88136790 88136793 VAR_014737 - P15144:p.Ser752Asn chr9 94602154 94602157 VAR_021511 + Q8N6M6:p.Val179Ala chr4 3553525 3553528 VAR_011821 - P30533:p.Val311Met chr4 71571375 71571378 VAR_035791 + Q6UX39:p.Gly78Ser chr7 2525726 2525729 VAR_024849 + Q400G9:p.Arg491His chr1 70454524 70454527 VAR_026825 - Q8N6S4:p.Thr413Ser chr4 165476399 165476402 VAR_026702 - O43423:p.Ala23Val chr4 165476255 165476258 VAR_020419 - O43423:p.Arg71Lys chr4 165476048 165476051 VAR_026703 - O43423:p.Tyr140His chr4 165475856 165475859 VAR_020420 - O43423:p.Glu204Gly chr12 47152849 47152852 VAR_027832 + O95626:p.Leu46Phe chr17 37941957 37941960 VAR_025489 + P54802:p.Phe48Leu chr17 37942050 37942053 VAR_008979 + P54802:p.Gly79Cys chr17 37942089 37942092 VAR_005007 + P54802:p.Tyr92His chr17 37942113 37942116 VAR_008980 + P54802:p.His100Arg chr17 37942158 37942161 VAR_005008 + P54802:p.Pro115Ser chr17 37942975 37942978 VAR_005009 + P54802:p.Tyr140Cys chr17 37942981 37942984 VAR_008981 + P54802:p.142del chr17 37943014 37943017 VAR_005010 + P54802:p.Glu153Lys chr17 37944261 37944264 VAR_008982 + P54802:p.Pro243Leu chr17 37946557 37946560 VAR_008983 + P54802:p.Cys277Phe chr17 37946566 37946569 VAR_008984 + P54802:p.Leu280Pro chr17 37946602 37946605 VAR_008985 + P54802:p.Gly292Arg chr17 37946668 37946671 VAR_025490 + P54802:p.Phe314Leu chr17 37948621 37948624 VAR_005011 + P54802:p.Pro358Leu chr17 37948903 37948906 VAR_008986 + P54802:p.Glu452Lys chr17 37948993 37948996 VAR_008987 + P54802:p.Arg482Trp chr17 37949110 37949113 VAR_025491 + P54802:p.Pro521Leu chr17 37949230 37949233 VAR_008988 + P54802:p.Leu561Arg chr17 37949242 37949245 VAR_025492 + P54802:p.Arg565Pro chr17 37949242 37949245 VAR_008989 + P54802:p.Arg565Gln chr17 37949242 37949245 VAR_025493 + P54802:p.Arg565Trp chr17 37949476 37949479 VAR_025494 + P54802:p.Arg643Cys chr17 37949476 37949479 VAR_005012 + P54802:p.Arg643His chr17 37949539 37949542 VAR_005013 + P54802:p.Ala664Val chr17 37949569 37949572 VAR_005014 + P54802:p.Arg674His chr17 37949593 37949596 VAR_005015 + P54802:p.Leu682Arg chr17 37949662 37949665 VAR_008990 + P54802:p.Glu705Lys chr1 11853081 11853084 VAR_014580 - P16860:p.Arg25Leu chr1 11852783 11852786 VAR_014581 - P16860:p.Arg47His chr1 11852645 11852648 VAR_014582 - P16860:p.Met93Leu chr2 232615774 232615777 VAR_014583 - P23582:p.Arg82Gln chr14 20231812 20231815 VAR_013148 + P03950:p.Lys84Glu chr19 8335217 8335220 VAR_032642 + Q9BY76:p.Pro5Leu chr19 8335322 8335325 VAR_032643 + Q9BY76:p.Glu40Lys chr19 8335325 8335328 VAR_032644 + Q9BY76:p.Met41Ile chr19 8335403 8335406 VAR_032645 + Q9BY76:p.Ser67Arg chr19 8335418 8335421 VAR_032646 + Q9BY76:p.Arg72Leu chr19 8335433 8335436 VAR_032647 + Q9BY76:p.Gly77Arg chr19 8337154 8337157 VAR_032648 + Q9BY76:p.Glu167Lys chr19 8337175 8337178 VAR_032649 + Q9BY76:p.Pro174Ser chr1 11184052 11184055 VAR_025075 + O43827:p.Glu51Asp chr1 11186633 11186636 VAR_025076 + O43827:p.Arg140His chr1 11187947 11187950 VAR_025077 + O43827:p.Gln175His chr8 108403300 108403303 VAR_009940 - Q15389:p.269del chr1 227153202 227153205 VAR_022933 - P01019:p.Leu43Phe chr1 227153037 227153040 VAR_029166 - P01019:p.Glu98Lys chr1 227152920 227152923 VAR_035431 - P01019:p.Thr137Met chr1 227152710 227152713 VAR_007093 - P01019:p.Thr207Met chr1 227152605 227152608 VAR_007094 - P01019:p.Thr242Ile chr1 227152599 227152602 VAR_007095 - P01019:p.Leu244Arg chr1 227152527 227152530 VAR_029167 - P01019:p.Met268Ile chr1 227152527 227152530 VAR_007096 - P01019:p.Met268Thr chr1 227152488 227152491 VAR_007097 - P01019:p.Tyr281Cys chr1 227148532 227148535 VAR_035432 - P01019:p.Pro335Ser chr1 227146766 227146769 VAR_014573 - P01019:p.Leu392Met chr8 41734776 41734779 VAR_000595 - P16157:p.Arg21Thr chr8 41696446 41696449 VAR_035605 - P16157:p.Asp332His chr8 41693642 41693645 VAR_000596 - P16157:p.Val463Ile chr8 41685593 41685596 VAR_000597 - P16157:p.Arg619His chr8 41680811 41680814 VAR_028769 - P16157:p.Leu733Ile chr8 41680760 41680763 VAR_000598 - P16157:p.Val750Ala chr8 41676149 41676152 VAR_000599 - P16157:p.Asp845Glu chr8 41671993 41671996 VAR_026411 - P16157:p.Val991Leu chr8 41670726 41670729 VAR_028770 - P16157:p.Ala1126Pro chr8 41669832 41669835 VAR_028771 - P16157:p.Thr1192Pro chr8 41669322 41669325 VAR_000601 - P16157:p.Glu1286Asp chr8 41667157 41667160 VAR_028772 - P16157:p.Met1325Val chr8 41665192 41665195 VAR_000600 - P16157:p.Ser1392Thr chr8 41649486 41649489 VAR_028773 - P16157:p.Val1546Ile chr8 41649348 41649351 VAR_000602 - P16157:p.Asp1592Asn chr4 114561605 114561608 VAR_035606 + Q01484:p.Gly685Glu chr5 139798291 139798294 VAR_035291 + Q8IWZ3:p.Leu175Met chr5 139799951 139799954 VAR_035292 + Q8IWZ3:p.Gly228Cys chr5 139887992 139887995 VAR_035293 + Q8IWZ3:p.Asn1760Ser chr5 14924541 14924544 VAR_022606 - Q9HCJ1:p.Pro5Leu chr5 14924541 14924544 VAR_022607 - Q9HCJ1:p.Pro5Thr chr5 14822252 14822255 VAR_017556 - Q9HCJ1:p.Met48Thr chr5 14799017 14799020 VAR_012192 - Q9HCJ1:p.Trp292Arg chr5 14794953 14794956 VAR_012193 - Q9HCJ1:p.Cys331Arg chr5 14769830 14769833 VAR_012194 - Q9HCJ1:p.375del chr5 14769827 14769830 VAR_012195 - Q9HCJ1:p.376del chr5 14769824 14769827 VAR_012196 - Q9HCJ1:p.377del chr5 14769815 14769818 VAR_012197 - Q9HCJ1:p.Pro380Pro chr5 14766750 14766753 VAR_012198 - Q9HCJ1:p.Gly389Arg chr5 14764314 14764317 VAR_017557 - Q9HCJ1:p.490del chr11 112763825 112763828 VAR_040359 + Q8NFD2:p.Asp4Tyr chr11 112769590 112769593 VAR_040360 + Q8NFD2:p.Arg122His chr11 112772030 112772033 VAR_036784 + Q8NFD2:p.Ala239Thr chr11 112772141 112772144 VAR_040361 + Q8NFD2:p.Pro276Leu chr11 112773268 112773271 VAR_036785 + Q8NFD2:p.Gly318Arg chr11 112774939 112774942 VAR_040362 + Q8NFD2:p.Lys347Thr chr11 112774996 112774999 VAR_040363 + Q8NFD2:p.Leu366Phe chr11 112774999 112775002 VAR_040364 + Q8NFD2:p.His367Gln chr11 112775026 112775029 VAR_040365 + Q8NFD2:p.Glu376Lys chr11 112775176 112775179 VAR_040366 + Q8NFD2:p.Glu426Lys chr11 112775224 112775227 VAR_036786 + Q8NFD2:p.Gly442Arg chr11 112775251 112775254 VAR_040367 + Q8NFD2:p.Gly451Arg chr11 112775368 112775371 VAR_036787 + Q8NFD2:p.His490Arg chr11 112775683 112775686 VAR_040368 + Q8NFD2:p.Thr595Ile chr11 112775686 112775689 VAR_040369 + Q8NFD2:p.Pro596Leu chr11 112775857 112775860 VAR_040370 + Q8NFD2:p.Asn653Ser chr11 112775908 112775911 VAR_040371 + Q8NFD2:p.Ser670Gly chr11 112776037 112776040 VAR_025010 + Q8NFD2:p.Glu713Lys chr11 112776049 112776052 VAR_040372 + Q8NFD2:p.Gln717Leu chr11 112776106 112776109 VAR_040373 + Q8NFD2:p.Arg736Leu chr11 112776190 112776193 VAR_040374 + Q8NFD2:p.Glu764Lys chr19 17254528 17254531 VAR_033507 + Q8NAG6:p.Leu80Gln chr19 17255122 17255125 VAR_033508 + Q8NAG6:p.Leu170Trp chr19 17256037 17256040 VAR_033511 + Q8NAG6:p.Val407Met chr12 131941806 131941809 VAR_031098 - Q86XL3:p.Gln148Glu chr20 9967168 9967171 VAR_033500 + Q9NU02:p.Pro74Thr chr20 9978186 9978189 VAR_024172 + Q9NU02:p.Leu324Gln chr20 9978450 9978453 VAR_033501 + Q9NU02:p.Gly412Glu chr20 9983154 9983157 VAR_035609 + Q9NU02:p.Lys694Asn chr20 9984200 9984203 VAR_033502 + Q9NU02:p.Arg742Gln chr9 98612772 98612775 VAR_034794 - Q68DC2:p.Val644Ile chr7 36211947 36211950 VAR_025661 + Q9NQW6:p.Ser65Trp chr7 36219094 36219097 VAR_025662 + Q9NQW6:p.Arg185Lys chr11 20442638 20442641 VAR_024584 + O60678:p.Leu440Val chr11 20472297 20472300 VAR_030943 + O60678:p.Ser470Cys chr9 35782498 35782501 VAR_022583 + P20594:p.Pro32Thr chr9 35782747 35782750 VAR_022584 + P20594:p.Trp115Gly chr9 35782930 35782933 VAR_022585 + P20594:p.Asp176Glu chr9 35783920 35783923 VAR_042219 + P20594:p.Met232Ile chr9 35789629 35789632 VAR_022586 + P20594:p.Thr297Met chr9 35790042 35790045 VAR_022587 + P20594:p.Tyr338Cys chr9 35790711 35790714 VAR_022588 + P20594:p.Ala409Thr chr9 35790723 35790726 VAR_022589 + P20594:p.Gly413Glu chr9 35795900 35795903 VAR_022590 + P20594:p.Tyr708Cys chr9 35796168 35796171 VAR_011968 + P20594:p.Gln771Glu chr9 35796183 35796186 VAR_022591 + P20594:p.Arg776Trp chr9 35797326 35797329 VAR_042220 + P20594:p.Val882Ile chr9 35798661 35798664 VAR_022592 + P20594:p.Arg957Cys chr9 35798667 35798670 VAR_022593 + P20594:p.Gly959Ala chr18 9201640 9201643 VAR_019425 + Q6UB98:p.Ser171Thr chr18 9211882 9211885 VAR_026042 + Q6UB98:p.Pro277Ala chr18 9245716 9245719 VAR_022088 + Q6UB98:p.Ser818Asn chr18 9245980 9245983 VAR_024173 + Q6UB98:p.Lys906Arg chr10 5969966 5969969 VAR_033503 - Q6P6B7:p.Ala128Gly chr10 5960125 5960128 VAR_026832 - Q6P6B7:p.Gln353Arg chr10 90578397 90578400 VAR_027628 - Q5VYY1:p.Glu73Gly chr10 90578379 90578382 VAR_027629 - Q5VYY1:p.Tyr79His chr10 90573070 90573073 VAR_027630 - Q5VYY1:p.Gln148Pro chr10 90572722 90572725 VAR_027631 - Q5VYY1:p.Arg177Ile chr18 19472855 19472858 VAR_035610 - Q8N6D5:p.Val95Met chr18 19468105 19468108 VAR_026869 - Q8N6D5:p.Gly112Glu chr1 143050637 143050640 VAR_026870 + Q8N283:p.Pro428Ser chr1 143056127 143056130 VAR_033506 + Q8N283:p.Asn978Asp chr2 96941080 96941083 VAR_026905 - Q53RE8:p.Ala113Thr chr11 82613633 82613636 VAR_028366 + Q8N9B4:p.Asn198Asp chr2 71118484 71118487 VAR_030300 + Q8N9V6:p.Leu153Ile chr6 35135903 35135906 VAR_021168 + Q92625:p.Leu694Ser chr1 170615704 170615707 VAR_027450 - P01008:p.Tyr17Ser chr1 170615686 170615689 VAR_012748 - P01008:p.Leu23Pro chr1 170615665 170615668 VAR_007032 - P01008:p.Val30Glu chr1 170615659 170615662 VAR_027451 - P01008:p.Cys32Arg chr1 170615638 170615641 VAR_007033 - P01008:p.Ile39Asn chr1 170615599 170615602 VAR_007034 - P01008:p.Met52Thr chr1 170615587 170615590 VAR_007035 - P01008:p.Arg56Cys chr1 170615536 170615539 VAR_007036 - P01008:p.Pro73Leu chr1 170615518 170615521 VAR_007037 - P01008:p.Arg79Cys chr1 170615518 170615521 VAR_007038 - P01008:p.Arg79His chr1 170615518 170615521 VAR_007039 - P01008:p.Arg79Ser chr1 170615494 170615497 VAR_007040 - P01008:p.87del chr1 170615488 170615491 VAR_007041 - P01008:p.Arg89Cys chr1 170615485 170615488 VAR_007042 - P01008:p.Phe90Leu chr1 170615470 170615473 VAR_027452 - P01008:p.Tyr95Cys chr1 170615470 170615473 VAR_012316 - P01008:p.Tyr95Ser chr1 170615461 170615464 VAR_027453 - P01008:p.Leu98Pro chr1 170615428 170615434 VAR_007043 - P01008:p.108_109del chr1 170615419 170615422 VAR_007044 - P01008:p.Pro112Thr chr1 170615392 170615395 VAR_027454 - P01008:p.Met121Lys chr1 170615374 170615377 VAR_027455 - P01008:p.Cys127Arg chr1 170615362 170615365 VAR_007045 - P01008:p.Leu131Phe chr1 170615362 170615365 VAR_007046 - P01008:p.Leu131Val chr1 170615356 170615359 VAR_007047 - P01008:p.Gln133Lys chr1 170612800 170612806 VAR_007048 - P01008:p.138_139del chr1 170612779 170612782 VAR_027456 - P01008:p.Lys146Glu chr1 170612776 170612779 VAR_013085 - P01008:p.Thr147Ala chr1 170612773 170612776 VAR_007049 - P01008:p.Ser148Pro chr1 170612767 170612770 VAR_007050 - P01008:p.Gln150Pro chr1 170612755 170612764 VAR_012749 - P01008:p.152_154del chr1 170612761 170612764 VAR_007051 - P01008:p.His152Tyr chr1 170612758 170612761 VAR_007052 - P01008:p.153del chr1 170612743 170612746 VAR_007053 - P01008:p.Leu158Pro chr1 170612737 170612740 VAR_027457 - P01008:p.Cys160Tyr chr1 170612734 170612737 VAR_007054 - P01008:p.Arg161Gln chr1 170612716 170612719 VAR_012750 - P01008:p.Asn167Thr chr1 170612683 170612686 VAR_027458 - P01008:p.Leu178His chr1 170612680 170612683 VAR_027459 - P01008:p.Phe179Leu chr1 170612647 170612650 VAR_007055 - P01008:p.Tyr190Cys chr1 170612623 170612626 VAR_007056 - P01008:p.Tyr198Cys chr1 170612623 170612626 VAR_027460 - P01008:p.Tyr198His chr1 170611668 170611671 VAR_027461 - P01008:p.Ser214Phe chr1 170611668 170611671 VAR_007057 - P01008:p.Ser214Tyr chr1 170611656 170611659 VAR_027462 - P01008:p.218del chr1 170611653 170611656 VAR_007059 - P01008:p.Asn219Asp chr1 170611653 170611656 VAR_007058 - P01008:p.Asn219Lys chr1 170611641 170611644 VAR_027463 - P01008:p.Ser223Pro chr1 170611581 170611584 VAR_027464 - P01008:p.Thr243Ile chr1 170611557 170611560 VAR_027465 - P01008:p.Ile251Thr chr1 170610728 170610731 VAR_027466 - P01008:p.Trp257Arg chr1 170610716 170610719 VAR_027467 - P01008:p.Phe261Leu chr1 170610692 170610695 VAR_007060 - P01008:p.Glu269Lys chr1 170610578 170610683 VAR_007061 - P01008:p.273_307del chr1 170610650 170610653 VAR_007062 - P01008:p.Met283Ile chr1 170610650 170610653 VAR_027468 - P01008:p.Met283Val chr1 170610593 170610596 VAR_007063 - P01008:p.Leu302Pro chr1 170610551 170610554 VAR_007064 - P01008:p.Ile316Asn chr1 170610530 170610533 VAR_027469 - P01008:p.Ser323Pro chr1 170610497 170610500 VAR_007065 - P01008:p.Glu334Lys chr1 170610467 170610470 VAR_007066 - P01008:p.344del chr1 170610356 170610359 VAR_007067 - P01008:p.Ser381Pro chr1 170608289 170608292 VAR_007068 - P01008:p.Arg391Gln chr1 170608271 170608274 VAR_027470 - P01008:p.Ser397Pro chr1 170608268 170608271 VAR_027471 - P01008:p.Asp398His chr1 170604842 170604845 VAR_027472 - P01008:p.Ser412Arg chr1 170604836 170604839 VAR_007069 - P01008:p.Ala414Thr chr1 170604830 170604833 VAR_007070 - P01008:p.Ala416Pro chr1 170604830 170604833 VAR_007071 - P01008:p.Ala416Ser chr1 170604821 170604824 VAR_007072 - P01008:p.Ala419Val chr1 170604806 170604809 VAR_007073 - P01008:p.Gly424Asp chr1 170604803 170604806 VAR_007075 - P01008:p.Arg425Cys chr1 170604803 170604806 VAR_007074 - P01008:p.Arg425His chr1 170604803 170604806 VAR_007076 - P01008:p.Arg425Pro chr1 170604800 170604803 VAR_007077 - P01008:p.Ser426Leu chr1 170604776 170604779 VAR_007078 - P01008:p.Phe434Cys chr1 170604776 170604779 VAR_007080 - P01008:p.Phe434Leu chr1 170604776 170604779 VAR_007079 - P01008:p.Phe434Ser chr1 170604770 170604773 VAR_007081 - P01008:p.Ala436Thr chr1 170604767 170604770 VAR_007082 - P01008:p.Asn437Lys chr1 170604764 170604767 VAR_009258 - P01008:p.Arg438Gly chr1 170604764 170604767 VAR_007083 - P01008:p.Arg438Met chr1 170604761 170604764 VAR_007084 - P01008:p.Pro439Leu chr1 170604761 170604764 VAR_007085 - P01008:p.Pro439Thr chr1 170604755 170604758 VAR_027473 - P01008:p.Leu441Pro chr1 170604719 170604722 VAR_007086 - P01008:p.Ile453Thr chr1 170604710 170604713 VAR_007087 - P01008:p.Gly456Arg chr1 170604707 170604710 VAR_007088 - P01008:p.Arg457Thr chr1 170604695 170604704 VAR_007089 - P01008:p.459_461del chr1 170604701 170604704 VAR_007090 - P01008:p.Ala459Asp chr1 170604695 170604698 VAR_007091 - P01008:p.Pro461Leu chr1 170604692 170604695 VAR_007092 - P01008:p.Cys462Phe chr4 81350758 81350761 VAR_022687 - P58335:p.Leu45Pro chr4 81334327 81334330 VAR_022688 - P58335:p.Gly105Asp chr4 81332673 81332676 VAR_022689 - P58335:p.Ile189Thr chr4 81314347 81314350 VAR_022690 - P58335:p.Cys218Arg chr4 81297296 81297299 VAR_022691 - P58335:p.Val293Val chr4 81286907 81286910 VAR_022692 - P58335:p.Leu329Arg chr4 81262246 81262249 VAR_022694 - P58335:p.Tyr381Cys chr4 169458423 169458426 VAR_030786 + Q9UJ72:p.Met71Leu chr10 81916679 81916682 VAR_012006 - P50995:p.Arg230Cys chr10 81907463 81907466 VAR_012007 - P50995:p.Ile457Val chr15 58440494 58440497 VAR_012982 - P07355:p.Val98Leu chr1 147773501 147773504 VAR_031212 + O76027:p.Arg225Gln chr7 36444904 36444907 VAR_020133 - P28039:p.Ala166Thr chr7 36429273 36429276 VAR_033513 - P28039:p.Ala266Gly chr17 38250181 38250184 VAR_025022 + O75106:p.Ile5Val chr17 38250232 38250235 VAR_025023 + O75106:p.Tyr22Cys chr17 38250589 38250592 VAR_025024 + O75106:p.Pro141Leu chr17 38250985 38250988 VAR_025025 + O75106:p.Arg273Gln chr17 38251447 38251450 VAR_025026 + O75106:p.Glu427Asp chr17 38256898 38256901 VAR_025035 + Q16853:p.Thr5Arg chr17 38257384 38257387 VAR_025027 + Q16853:p.His167Tyr chr17 38257834 38257837 VAR_012064 + Q16853:p.Tyr317His chr17 38257870 38257873 VAR_024343 + Q16853:p.Arg329Gln chr17 38257996 38257999 VAR_025028 + Q16853:p.Ile371Thr chr17 38258107 38258110 VAR_025029 + Q16853:p.Ala408Ser chr17 38258161 38258164 VAR_025030 + Q16853:p.Arg426His chr17 38258206 38258209 VAR_025031 + Q16853:p.Arg441Trp chr17 38260133 38260136 VAR_025032 + Q16853:p.Ala582Thr chr17 38261898 38261901 VAR_025033 + Q16853:p.Gly700Ser chr17 38262045 38262048 VAR_025034 + Q16853:p.Ala749Val chrX 43271885 43271888 VAR_036545 + P21397:p.Asp15Glu chrX 43347338 43347341 VAR_014795 + P21397:p.Phe314Val chrX 43359987 43359990 VAR_014796 + P21397:p.Lys520Arg chr14 23102865 23102868 VAR_024363 - O75843:p.Ser377Phe chr19 16200598 16200601 VAR_036536 + Q9BXS5:p.Arg303Gln chr6 50899213 50899216 VAR_016977 + Q92481:p.Pro73Arg chr6 50911836 50911839 VAR_016978 + Q92481:p.Arg236Cys chr6 50911836 50911839 VAR_016979 + Q92481:p.Arg236Ser chr6 50913647 50913650 VAR_011318 + Q92481:p.Ala275Asp chr6 50913677 50913680 VAR_016980 + Q92481:p.Arg285Gln chr6 50913722 50913725 VAR_011319 + Q92481:p.Arg300Cys chr6 50804568 50804571 VAR_036975 + Q7Z6R9:p.Val214Phe chr5 77497189 77497252 VAR_011595 - O00203:p.390_410del chr5 77460797 77460800 VAR_011596 - O00203:p.Leu580Arg chr19 2069689 2069692 VAR_033517 - O14617:p.Gly541Arg chr19 2060154 2060157 VAR_033518 - O14617:p.Ile1072Val chr1 114150991 114150994 VAR_030804 - Q9Y6B7:p.Leu480Ser chr19 3705037 3705040 VAR_020134 - O96018:p.Lys276Thr chr19 3702261 3702264 VAR_011822 - O96018:p.Ile527Phe chr11 6381183 6381186 VAR_014444 - O00213:p.Met327Val chr11 6380447 6380450 VAR_014445 - O00213:p.Asn396Ser chr4 146360484 146360487 VAR_025200 - Q9UM13:p.Arg46Gln chr19 1413006 1413009 VAR_037703 + O95996:p.Ala562Ser chr19 1420306 1420309 VAR_037704 + O95996:p.Gly2003Ser chr19 1421020 1421023 VAR_037705 + O95996:p.Ser2241Ala chr20 56479168 56479171 VAR_029625 - Q8NCL9:p.Cys30Arg chr20 56476068 56476071 VAR_029626 - Q8NCL9:p.Tyr80His chr20 56469974 56469977 VAR_029627 - Q8NCL9:p.Arg261Cys chr5 112130858 112130861 VAR_009613 + P25054:p.Arg99Trp chr5 112139312 112139315 VAR_005032 + P25054:p.Ser171Ile chr5 112182867 112182870 VAR_005033 + P25054:p.Arg414Cys chr5 112201353 112201356 VAR_009614 + P25054:p.Ser722Gly chr5 112201539 112201542 VAR_005034 + P25054:p.Ser784Thr chr5 112201638 112201641 VAR_005035 + P25054:p.Gly817Cys chr5 112201827 112201830 VAR_005036 + P25054:p.Ile880Thr chr5 112201857 112201860 VAR_012975 + P25054:p.Val890Ile chr5 112201905 112201908 VAR_005037 + P25054:p.Ser906Tyr chr5 112201920 112201923 VAR_005038 + P25054:p.Glu911Gly chr5 112202013 112202016 VAR_005039 + P25054:p.Asn942Asp chr5 112202268 112202271 VAR_005040 + P25054:p.Tyr1027Cys chr5 112202358 112202361 VAR_009615 + P25054:p.Glu1057Gly chr5 112202541 112202544 VAR_005041 + P25054:p.Asn1118Asp chr5 112202547 112202550 VAR_005042 + P25054:p.Gly1120Glu chr5 112202700 112202703 VAR_008992 + P25054:p.Arg1171Cys chr5 112202700 112202703 VAR_005043 + P25054:p.Arg1171His chr5 112202715 112202718 VAR_005044 + P25054:p.Pro1176Leu chr5 112202739 112202742 VAR_009616 + P25054:p.Ala1184Pro chr5 112202778 112202781 VAR_005045 + P25054:p.Phe1197Ser chr5 112202949 112202952 VAR_035794 + P25054:p.Ile1254Phe chr5 112202964 112202967 VAR_005046 + P25054:p.Ile1259Thr chr5 112203063 112203066 VAR_005047 + P25054:p.Thr1292Met chr5 112203075 112203078 VAR_017653 + P25054:p.Ala1296Val chr5 112203099 112203102 VAR_005048 + P25054:p.Ile1304Val chr5 112203108 112203111 VAR_005049 + P25054:p.Ile1307Lys chr5 112203123 112203126 VAR_005050 + P25054:p.Gly1312Glu chr5 112203126 112203129 VAR_005051 + P25054:p.Thr1313Ala chr5 112203138 112203141 VAR_009617 + P25054:p.Glu1317Gln chr5 112203165 112203168 VAR_005052 + P25054:p.Val1326Ala chr5 112203231 112203234 VAR_005053 + P25054:p.Arg1348Trp chr5 112203453 112203456 VAR_005054 + P25054:p.Asp1422His chr5 112203603 112203606 VAR_017654 + P25054:p.Val1472Ile chr5 112203672 112203675 VAR_017655 + P25054:p.Ser1495Gly chr5 112203675 112203678 VAR_020141 + P25054:p.Thr1496Ser chr5 112203711 112203714 VAR_012976 + P25054:p.Ala1508Val chr5 112204653 112204656 VAR_008993 + P25054:p.Val1822Asp chr5 112205106 112205109 VAR_020142 + P25054:p.Ser1973Thr chr5 112206693 112206696 VAR_005055 + P25054:p.Gly2502Ser chr5 112207050 112207053 VAR_005056 + P25054:p.Ser2621Cys chr5 112207401 112207404 VAR_008994 + P25054:p.Ile2738Thr chr5 112207704 112207707 VAR_005057 + P25054:p.Leu2839Phe chr14 19994004 19994007 VAR_013455 + P27695:p.Gln51His chr14 19994043 19994046 VAR_014823 + P27695:p.Ile64Val chr14 19994991 19994994 VAR_019790 + P27695:p.Asp148Glu chrX 54911883 54911885 VAR_023390 + Q9UBZ4:p.Arg141Cys chrX 54912415 54912416 VAR_023390 + Q9UBZ4:p.Arg141Cys chr11 34894386 34894389 VAR_026575 - Q96GX9:p.Arg7Trp chr11 34873221 34873224 VAR_026576 - Q96GX9:p.His23Arg chr11 34866971 34866974 VAR_026577 - Q96GX9:p.Cys76Tyr chr11 34861545 34861548 VAR_026578 - Q96GX9:p.Met181Val chr2 68641642 68641645 VAR_032299 + Q8IW19:p.Ile100Val chr2 68676855 68676858 VAR_032300 + Q8IW19:p.Leu336Phe chr11 129515522 129515525 VAR_022039 + Q06481:p.Asp632Asn chr20 24912555 24912558 VAR_014128 - Q9HDC9:p.Ile65Val chr22_random 13997 14000 VAR_000605 + P02647:p.Pro27His chr22_random 13997 14000 VAR_000606 + P02647:p.Pro27Arg chr22_random 14000 14003 VAR_000607 + P02647:p.Pro28Arg chr22_random 14018 14021 VAR_000608 + P02647:p.Arg34Leu chr22_random 14066 14069 VAR_000609 + P02647:p.Gly50Arg chr22_random 14099 14102 VAR_025445 + P02647:p.Ala61Thr chr22_random 14757 14760 VAR_000610 + P02647:p.Leu84Arg chr22_random 14781 14784 VAR_017017 + P02647:p.Thr92Ile chr22_random 14844 14847 VAR_000611 + P02647:p.Asp113Glu chr22_random 14862 14865 VAR_000612 + P02647:p.Ala119Asp chr22_random 14883 14886 VAR_016189 + P02647:p.Asp126His chr22_random 14886 14889 VAR_000613 + P02647:p.Asp127Asn chr22_random 14898 14901 VAR_000615 + P02647:p.Lys131Met chr22_random 14898 14901 VAR_000614 + P02647:p.131del chr22_random 14901 14904 VAR_000616 + P02647:p.Trp132Arg chr22_random 14907 14910 VAR_000617 + P02647:p.Glu134Lys chr22_random 14985 14988 VAR_000618 + P02647:p.Glu160Lys chr22_random 14994 14997 VAR_000619 + P02647:p.Glu163Gly chr22_random 15006 15009 VAR_000620 + P02647:p.Pro167Arg chr22_random 15009 15012 VAR_000621 + P02647:p.Leu168Arg chr22_random 15018 15021 VAR_000622 + P02647:p.Glu171Val chr22_random 15045 15048 VAR_021362 + P02647:p.Val180Glu chr22_random 15057 15060 VAR_014609 + P02647:p.Arg184Pro chr22_random 15072 15075 VAR_000623 + P02647:p.Pro189Arg chr22_random 15096 15099 VAR_000624 + P02647:p.Arg197Cys chr22_random 15171 15174 VAR_000625 + P02647:p.Glu222Lys chr22_random 27952 27955 VAR_000626 + P06727:p.Val13Met chr22_random 28402 28405 VAR_000627 + P06727:p.Glu44Lys chr22_random 29269 29272 VAR_014610 + P06727:p.Gly74Ser chr22_random 29278 29281 VAR_025444 + P06727:p.Gln77His chr22_random 29488 29491 VAR_000628 + P06727:p.Asn147Ser chr22_random 29530 29533 VAR_000629 + P06727:p.Ala161Ser chr22_random 29581 29584 VAR_000630 + P06727:p.Ser178Leu chr22_random 29602 29605 VAR_000631 + P06727:p.Glu185Lys chr22_random 29608 29611 VAR_000632 + P06727:p.Lys187Glu chr22_random 29797 29800 VAR_000633 + P06727:p.Glu250Lys chr22_random 29839 29842 VAR_000634 + P06727:p.Arg264Gln chr22_random 29884 29887 VAR_025443 + P06727:p.Arg279Lys chr22_random 29962 29965 VAR_000635 + P06727:p.Arg305Cys chr22_random 29968 29971 VAR_014611 + P06727:p.Val307Leu chr22_random 30148 30151 VAR_000636 + P06727:p.Thr367Ser chr22_random 30187 30190 VAR_000637 + P06727:p.Gln380His chr22_random 30190 30193 VAR_000638 + P06727:p.Gln381Gln chr11 116167615 116167618 VAR_021165 - Q6Q788:p.Ser19Trp chr11 116167561 116167564 VAR_035124 - Q6Q788:p.Asp37Glu chr11 116166695 116166698 VAR_021166 - Q6Q788:p.Val153Met chr11 116166599 116166602 VAR_021167 - Q6Q788:p.Gly185Cys chr2 21175550 21175553 VAR_016184 - P04114:p.Thr98Ile chr2 21175535 21175538 VAR_022036 - P04114:p.Tyr103His chr2 21172583 21172586 VAR_022037 - P04114:p.Pro145Ser chr2 21167005 21167008 VAR_029341 - P04114:p.Ile408Thr chr2 21164421 21164424 VAR_022610 - P04114:p.Arg490Trp chr2 21163017 21163020 VAR_020135 - P04114:p.Pro554Leu chr2 21162564 21162567 VAR_019828 - P04114:p.Ala618Val chr2 21161365 21161368 VAR_020136 - P04114:p.Val730Ile chr2 21161356 21161359 VAR_016185 - P04114:p.Val733Ile chr2 21161332 21161335 VAR_020137 - P04114:p.Thr741Asn chr2 21157539 21157542 VAR_029342 - P04114:p.Pro877Leu chr2 21151036 21151039 VAR_029343 - P04114:p.Gly1086Ser chr2 21150062 21150065 VAR_029344 - P04114:p.Asp1113His chr2 21150017 21150020 VAR_022611 - P04114:p.Arg1128His chr2 21147735 21147738 VAR_029345 - P04114:p.Arg1388His chr2 21147080 21147083 VAR_005016 - P04114:p.Phe1437Leu chr2 21145649 21145652 VAR_005017 - P04114:p.Asn1914Ser chr2 21145622 21145625 VAR_005018 - P04114:p.His1923Arg chr2 21144494 21144497 VAR_029346 - P04114:p.Asp2299His chr2 21144023 21144026 VAR_020138 - P04114:p.Ala2456Asp chr2 21143699 21143702 VAR_035795 - P04114:p.Phe2564Cys chr2 21143693 21143696 VAR_005019 - P04114:p.Glu2566Lys chr2 21143174 21143177 VAR_005020 - P04114:p.Pro2739Leu chr2 21143036 21143039 VAR_022038 - P04114:p.Asn2785His chr2 21142028 21142031 VAR_005021 - P04114:p.Ala3121Thr chr2 21141845 21141848 VAR_029347 - P04114:p.His3182Asn chr2 21141554 21141557 VAR_029348 - P04114:p.Ser3279Gly chr2 21141509 21141512 VAR_020139 - P04114:p.Ser3294Pro chr2 21140810 21140813 VAR_005025 - P04114:p.Arg3527Gln chr2 21140717 21140720 VAR_005026 - P04114:p.Arg3558Cys chr2 21140477 21140480 VAR_016186 - P04114:p.Arg3638Gln chr2 21139988 21139991 VAR_029349 - P04114:p.Ser3801Thr chr2 21139628 21139631 VAR_005027 - P04114:p.Val3921Ile chr2 21139152 21139155 VAR_005028 - P04114:p.Thr3945Ala chr2 21137561 21137564 VAR_005029 - P04114:p.Val4128Met chr2 21137135 21137138 VAR_016188 - P04114:p.Arg4270Thr chr2 21136763 21136766 VAR_029350 - P04114:p.Val4394Ala chr2 21136502 21136505 VAR_005031 - P04114:p.Ala4481Thr chr2 21136493 21136496 VAR_020140 - P04114:p.Thr4484Met chr19 50110033 50110036 VAR_014183 + P02654:p.Ile16Met chr19 50114285 50114288 VAR_029011 + P02654:p.Thr71Ser chr19 50143862 50143865 VAR_000639 + P02655:p.Lys41Thr chr19 50143883 50143886 VAR_000640 + P02655:p.Trp48Arg chr19 50143919 50143922 VAR_000641 + P02655:p.Glu60Lys chr19 50144268 50144271 VAR_000642 + P02655:p.Lys77Gln chr11 116208741 116208744 VAR_000643 + P02656:p.Lys78Glu chr11 116208789 116208792 VAR_000644 + P02656:p.Thr94Ala chr19 50139874 50139877 VAR_012081 + P55056:p.Leu36Pro chr19 50139922 50139925 VAR_012082 + P55056:p.Gly52Asp chr19 50140240 50140243 VAR_036540 + P55056:p.Pro75Gln chr19 50140303 50140306 VAR_012068 + P55056:p.Leu96Arg chr19 50140393 50140396 VAR_012069 + P55056:p.Gln126Leu chr3_random 539858 539861 VAR_011931 - P05090:p.Phe15Ser chr3_random 529566 529569 VAR_011932 - P05090:p.Ser115Leu chr3_random 529377 529380 VAR_011933 - P05090:p.Thr178Lys chr19 50102873 50102876 VAR_000645 + P02649:p.Glu21Lys chr19 50102903 50102906 VAR_000646 + P02649:p.Glu31Lys chr19 50102939 50102942 VAR_042734 + P02649:p.Arg43Cys chr19 50102948 50102951 VAR_000647 + P02649:p.Leu46Pro chr19 50102990 50102993 VAR_000648 + P02649:p.Thr60Ala chr19 50103002 50103005 VAR_014114 + P02649:p.Gln64His chr19 50103687 50103690 VAR_000649 + P02649:p.Gln99Lys chr19 50103696 50103699 VAR_000650 + P02649:p.Pro102Arg chr19 50103741 50103744 VAR_000651 + P02649:p.Ala117Thr chr19 50103762 50103765 VAR_016789 + P02649:p.Ala124Val chr19 50103780 50103783 VAR_000652 + P02649:p.Cys130Arg chr19 50103825 50103828 VAR_000653 + P02649:p.Gly145Asp chr19 50103825 50103828 VAR_000654 + P02649:p.Gly145Gly chr19 50103846 50103849 VAR_000655 + P02649:p.Arg152Gln chr19 50103852 50103855 VAR_000657 + P02649:p.Arg154Cys chr19 50103852 50103855 VAR_000656 + P02649:p.Arg154Ser chr19 50103870 50103873 VAR_000658 + P02649:p.Arg160Cys chr19 50103879 50103882 VAR_000659 + P02649:p.Arg163Cys chr19 50103879 50103882 VAR_000660 + P02649:p.Arg163His chr19 50103879 50103882 VAR_042735 + P02649:p.Arg163Pro chr19 50103882 50103885 VAR_000662 + P02649:p.Lys164Glu chr19 50103882 50103885 VAR_000661 + P02649:p.Lys164Gln chr19 50103891 50103894 VAR_035015 + P02649:p.167del chr19 50103900 50103903 VAR_000663 + P02649:p.Ala170Pro chr19 50103918 50103921 VAR_000664 + P02649:p.Arg176Cys chr19 50104116 50104119 VAR_000665 + P02649:p.Arg242Gln chr19 50104128 50104131 VAR_000666 + P02649:p.Arg246Cys chr19 50104152 50104155 VAR_000667 + P02649:p.Val254Glu chr19 50104176 50104182 VAR_000668 + P02649:p.Glu262_Glu263delinsLysLys chr19 50104197 50104200 VAR_000669 + P02649:p.Arg269Gly chr19 50104200 50104203 VAR_000670 + P02649:p.Leu270Glu chr19 50104266 50104269 VAR_000671 + P02649:p.Arg292His chr19 50104332 50104335 VAR_000672 + P02649:p.Ser314Arg chr17 61652624 61652627 VAR_008169 - P02749:p.Ser107Asn chr17 61647275 61647278 VAR_019155 - P02749:p.Arg154His chr17 61641216 61641219 VAR_000673 - P02749:p.Val266Leu chr17 61641039 61641042 VAR_008170 - P02749:p.Cys325Gly chr17 61638745 61638748 VAR_008171 - P02749:p.Trp335Ser chr22 34948417 34948420 VAR_024366 - Q9BQE5:p.Arg182Cys chr22 34948228 34948231 VAR_012978 - Q9BQE5:p.Ile245Val chr22 34447428 34447431 VAR_020355 + Q9BWW9:p.Thr272Met chr22 34447581 34447584 VAR_020356 + Q9BWW9:p.Thr323Met chr22 34449358 34449361 VAR_020357 + Q9BWW9:p.Ser406Cys chr3 37451430 37451433 VAR_032538 + Q8IVJ8:p.His107Tyr chr16 87404457 87404460 VAR_006747 - P07741:p.Asp65Val chr16 87404048 87404051 VAR_006748 - P07741:p.Leu110Pro chr16 87404015 87404018 VAR_019055 - P07741:p.Gln121Arg chr16 87403741 87403744 VAR_006749 - P07741:p.Met136Thr chr16 87403699 87403702 VAR_022608 - P07741:p.Val150Phe chr16 87403690 87403693 VAR_022609 - P07741:p.Cys153Arg chr16 87403630 87403633 VAR_037575 - P07741:p.173del chr1 151106746 151106749 VAR_033519 + Q96PS8:p.Arg15Gln chr11 76978988 76978991 VAR_020446 + Q8NBQ7:p.Gly102Ser chr7 30724875 30724878 VAR_013279 + P29972:p.Pro38Leu chr7 30724896 30724899 VAR_004400 + P29972:p.Ala45Val chr7 30735028 30735031 VAR_022318 + P29972:p.Gly165Asp chr12 48630943 48630946 VAR_015239 + P41181:p.Leu22Val chr12 48630961 48630964 VAR_015240 + P41181:p.Leu28Pro chr12 48631018 48631021 VAR_015241 + P41181:p.Ala47Val chr12 48631048 48631051 VAR_015256 + P41181:p.Gln57Pro chr12 48631069 48631072 VAR_004401 + P41181:p.Gly64Arg chr12 48631081 48631084 VAR_015242 + P41181:p.Asn68Ser chr12 48631090 48631093 VAR_015243 + P41181:p.Val71Met chr12 48631177 48631180 VAR_015257 + P41181:p.Gly100Val chr12 48634204 48634207 VAR_037577 + P41181:p.Leu121Phe chr12 48634216 48634219 VAR_015244 + P41181:p.Thr125Met chr12 48634219 48634222 VAR_015245 + P41181:p.Thr126Met chr12 48634282 48634285 VAR_015246 + P41181:p.Ala147Thr chr12 48634345 48634348 VAR_015247 + P41181:p.Val168Met chr12 48634366 48634369 VAR_015248 + P41181:p.Gly175Arg chr12 48634694 48634697 VAR_015249 + P41181:p.Cys181Trp chr12 48634706 48634709 VAR_015250 + P41181:p.Pro185Ala chr12 48634712 48634715 VAR_004402 + P41181:p.Arg187Cys chr12 48634721 48634724 VAR_015251 + P41181:p.Ala190Thr chr12 48634733 48634736 VAR_015252 + P41181:p.Val194Ile chr12 48634757 48634760 VAR_015253 + P41181:p.Trp202Cys chr12 48635487 48635490 VAR_004403 + P41181:p.Ser216Pro chr12 48635613 48635616 VAR_015254 + P41181:p.Glu258Lys chr12 48635625 48635628 VAR_015255 + P41181:p.Pro262Leu chr9 33433869 33433872 VAR_025089 - Q92482:p.Val43Met chr16 25145971 25145974 VAR_036484 + O94778:p.Ile229Met chr16 25147305 25147308 VAR_021933 + O94778:p.Ala260Pro chr22 24324931 24324934 VAR_040380 + P35626:p.Arg50Ser chr22 24324961 24324964 VAR_040381 + P35626:p.Asn60Ser chr22 24382141 24382144 VAR_040382 + P35626:p.Arg104Lys chr22 24424094 24424097 VAR_028005 + P35626:p.Val409Met chr7 98629002 98629005 VAR_014477 + O15143:p.Lys37Asn chr4 75677461 75677464 VAR_018918 + P15514:p.Asp80Val chr4 75677464 75677467 VAR_018919 + P15514:p.Tyr81Cys chr20 61380714 61380717 VAR_015187 + Q8N6T3:p.Val184Met chr22 41538303 41538306 VAR_036177 - Q9NP61:p.Glu290Gly chr20 61803953 61803956 VAR_036559 - Q13795:p.Leu108Val chr6 131936145 131936148 VAR_015594 + P05089:p.Ile11Thr chr6 131944157 131944160 VAR_015595 + P05089:p.Gly138Val chr6 131946224 131946227 VAR_000674 + P05089:p.Gly235Arg chr6 131946639 131946642 VAR_000675 + P05089:p.Thr290Ser chr14 67183490 67183493 VAR_033520 + P78540:p.Gly240Arg chr3 56810827 56810830 VAR_021935 - Q9NR81:p.Lys13Arg chr3 56746288 56746291 VAR_021936 - Q9NR81:p.Leu335Val chr10 5485221 5485224 VAR_035972 + Q7Z628:p.Asp202Asn chrX 62727456 62727459 VAR_028752 - O43307:p.Gly55Ala chr8 1844997 1845000 VAR_038603 + O15013:p.Val700Ile chr1 153720152 153720155 VAR_024285 - O15085:p.His1427Arg chr11 119845268 119845271 VAR_020191 + Q9NZN5:p.Tyr973Phe chr11 72698678 72698681 VAR_032132 + Q96PE2:p.Gly450Glu chr11 72749198 72749201 VAR_032133 + Q96PE2:p.Ala1465Asp chr1 16279949 16279952 VAR_031950 - Q8IW93:p.Gly163Arg chr1 16279558 16279561 VAR_031951 - Q8IW93:p.Glu238Gln chr1 36226711 36226714 VAR_030579 + Q9NX46:p.Glu209Lys chr19 880633 880636 VAR_033203 + Q99856:p.Pro36His chr19 915839 915842 VAR_033204 + Q99856:p.Lys320Glu chr19 922948 922951 VAR_033205 + Q99856:p.Gly556Ser chr14 57884178 57884181 VAR_031566 + P29374:p.His412Pro chr14 57900729 57900732 VAR_031567 + P29374:p.Asn724Ser chr1 19380314 19380317 VAR_017413 - O43488:p.Ala142Thr chr1 19380269 19380272 VAR_017414 - O43488:p.Gln157His chr1 19379159 19379162 VAR_017415 - O43488:p.Cys214Tyr chr1 19357780 19357783 VAR_017416 - O95154:p.Val138Met chr1 19356544 19356547 VAR_017417 - O95154:p.Asn215Asp chr1 19354557 19354560 VAR_017418 - O95154:p.Thr323Ala chr13 49102647 49102650 VAR_023742 + Q969Q4:p.Ser22Leu chr13 49102974 49102977 VAR_023743 + Q969Q4:p.Pro131Leu chr13 49103025 49103028 VAR_023744 + Q969Q4:p.Cys148Arg chr13 49103073 49103076 VAR_023745 + Q969Q4:p.Glu164Lys chr17 41772647 41772650 VAR_017170 - Q8IVW1:p.Leu170Ile chr10 104455137 104455140 VAR_014869 - P36405:p.Leu34Met chr7 12501533 12501536 VAR_024367 + P40617:p.Arg139Lys chr17 38832896 38832899 VAR_028205 + P49703:p.Thr91Asn chr3 98969731 98969734 VAR_027643 + Q9H0F7:p.Thr31Met chr3 98969731 98969734 VAR_027644 + Q9H0F7:p.Thr31Arg chr3 98993329 98993332 VAR_027645 + Q9H0F7:p.Gly169Ala chr3 98993332 98993335 VAR_027646 + Q9H0F7:p.Leu170Trp chr7 64991017 64991020 VAR_043106 + P04424:p.Asp31Asn chr7 64991579 64991582 VAR_000676 + P04424:p.Arg95Cys chr7 64992055 64992058 VAR_000677 + P04424:p.Arg111Trp chr7 64992061 64992064 VAR_043107 + P04424:p.Arg113Gln chr7 102326913 102326916 VAR_034681 + Q8N2F6:p.Pro190Ser chr10 28189775 28189778 VAR_033514 - Q5T2S8:p.Asn935Lys chr2 231905192 231905195 VAR_031170 + Q7Z3E5:p.Leu108Phe chr2 231925443 231925446 VAR_031171 + Q7Z3E5:p.Ile209Thr chr2 231925482 231925485 VAR_031172 + Q7Z3E5:p.Arg222His chr1 147608846 147608849 VAR_024280 - P27540:p.Arg430Gln chr1 147602954 147602957 VAR_014819 - P27540:p.Asp511Asn chr1 147602936 147602939 VAR_018906 - P27540:p.Asp517Glu chr1 147598882 147598885 VAR_020189 - P27540:p.Pro706Leu chr20 36817129 36817132 VAR_027158 + Q9H9F9:p.Arg298Leu chr20 36829533 36829536 VAR_027159 + Q9H9F9:p.Ile483Val chr20 36833786 36833789 VAR_027160 + Q9H9F9:p.Pro580Leu chrX 69272999 69273002 VAR_025520 + P36575:p.Leu44Phe chr19 17981451 17981454 VAR_026895 + Q8TBH0:p.Arg181His chr19 17981484 17981487 VAR_026896 + Q8TBH0:p.Arg192His chr19 17981728 17981731 VAR_026897 + Q8TBH0:p.Ala244Thr chr19 17984736 17984739 VAR_026898 + Q8TBH0:p.Leu396Pro chr2 234011319 234011322 VAR_008263 + P10523:p.Ile76Val chr2 234011343 234011346 VAR_008264 + P10523:p.Arg84Cys chr2 234011466 234011469 VAR_008265 + P10523:p.Thr125Met chr2 234032959 234032962 VAR_008266 + P10523:p.Pro364Leu chr2 234037471 234037474 VAR_008267 + P10523:p.Val378Ile chr2 234037489 234037492 VAR_008268 + P10523:p.Arg384Cys chr2 234037546 234037549 VAR_033524 + P10523:p.Val403Ile chr19 12719864 12719867 VAR_018844 + O43681:p.Asn332Ser chr22 49355573 49355576 VAR_007246 - P15289:p.Gly86Asp chr22 49353794 49353797 VAR_007289 - P15289:p.398del chr22 49353764 49353773 VAR_007290 - P15289:p.406_408del chr5 78316632 78316635 VAR_019017 - P15848:p.Ser65Phe chr5 78316569 78316572 VAR_019018 - P15848:p.86del chr5 78316551 78316554 VAR_007294 - P15848:p.Thr92Met chr5 78316542 78316545 VAR_007295 - P15848:p.Arg95Gln chr5 78300735 78300738 VAR_019019 - P15848:p.Pro116His chr5 78300732 78300735 VAR_007296 - P15848:p.Cys117Arg chr5 78300672 78300675 VAR_007297 - P15848:p.Gly137Val chr5 78300657 78300660 VAR_019020 - P15848:p.Met142Ile chr5 78300651 78300654 VAR_019021 - P15848:p.Gly144Arg chr5 78300645 78300648 VAR_019022 - P15848:p.Trp146Leu chr5 78300645 78300648 VAR_019023 - P15848:p.Trp146Arg chr5 78300645 78300648 VAR_019024 - P15848:p.Trp146Ser chr5 78300627 78300630 VAR_007298 - P15848:p.Arg152Trp chr5 78300603 78300606 VAR_007299 - P15848:p.Arg160Gln chr5 78296108 78296111 VAR_019025 - P15848:p.Cys192Arg chr5 78296054 78296057 VAR_007300 - P15848:p.Tyr210Cys chr5 78287063 78287066 VAR_007301 - P15848:p.Leu236Pro chr5 78287054 78287057 VAR_019026 - P15848:p.Gln239Arg chr5 78217398 78217401 VAR_007302 - P15848:p.Gly302Arg chr5 78217368 78217371 VAR_019027 - P15848:p.Trp312Cys chr5 78217359 78217362 VAR_019028 - P15848:p.Arg315Gln chr5 78217341 78217344 VAR_019029 - P15848:p.Leu321Pro chr5 78217230 78217233 VAR_016061 - P15848:p.Val358Met chr5 78217176 78217179 VAR_007303 - P15848:p.Val376Met chr5 78170995 78170998 VAR_019030 - P15848:p.Ser384Asn chr5 78170968 78170971 VAR_007304 - P15848:p.His393Pro chr5 78170950 78170953 VAR_019031 - P15848:p.Phe399Leu chr5 78112125 78112128 VAR_019032 - P15848:p.Arg484Gly chr5 78112083 78112086 VAR_007306 - P15848:p.Leu498Pro chr5 78112014 78112017 VAR_019033 - P15848:p.Cys521Tyr chr5 78111984 78111987 VAR_019034 - P15848:p.Pro531Arg chrX 2869824 2869827 VAR_007307 - P51690:p.Arg12Ser chrX 2866884 2866887 VAR_023570 - P51690:p.Ile80Asn chrX 2864641 2864644 VAR_007308 - P51690:p.Arg111Pro chrX 2864623 2864626 VAR_007309 - P51690:p.Gly117Arg chrX 2864563 2864566 VAR_007310 - P51690:p.Gly137Val chrX 2861010 2861013 VAR_037974 - P51690:p.Arg183His chrX 2860824 2860827 VAR_007311 - P51690:p.Gly245Arg chrX 2849513 2849516 VAR_037975 - P51690:p.Gly424Ser chrX 2846560 2846563 VAR_023571 - P51690:p.Thr481Met chrX 2846527 2846530 VAR_007312 - P51690:p.Cys492Tyr chrX 2846269 2846272 VAR_023572 - P51690:p.Pro578Ser chr1 44070475 44070478 VAR_026718 + Q5T4W7:p.Gln19Arg chr1 227432596 227432599 VAR_033525 + Q9H2C2:p.Gly101Glu chr22 18343658 18343661 VAR_020408 - O00192:p.Val175Ala chr22 18343523 18343526 VAR_033529 - O00192:p.Pro220Leu chr22 18334025 18334028 VAR_024692 - O00192:p.Arg906Gln chr22 18334016 18334019 VAR_033531 - O00192:p.Arg909Gln chr22 18334016 18334019 VAR_033530 - O00192:p.Arg909Trp chr22 18334007 18334010 VAR_033532 - O00192:p.Arg912Trp chrX 24793412 24793415 VAR_015669 - Q96QS3:p.Leu33Pro chrX 24791423 24791426 VAR_015177 - Q96QS3:p.Ala115Ala chrX 24791303 24791306 VAR_015670 - Q96QS3:p.Ala155Ala chrX 24790910 24790913 VAR_015671 - Q96QS3:p.Gly286Ser chrX 24790772 24790775 VAR_015178 - Q96QS3:p.Arg332His chrX 24790772 24790775 VAR_033260 - Q96QS3:p.Arg332Pro chrX 24790769 24790772 VAR_033261 - Q96QS3:p.Thr333Asn chrX 24790739 24790742 VAR_015179 - Q96QS3:p.Leu343Gln chrX 24790709 24790712 VAR_015180 - Q96QS3:p.Pro353Leu chrX 24790709 24790712 VAR_033262 - Q96QS3:p.Pro353Arg chrX 24782569 24782572 VAR_033263 - Q96QS3:p.Ala521Thr chr8 18124025 18124028 VAR_004606 + P18440:p.Arg64Trp chr8 18124184 18124187 VAR_009510 + P18440:p.Arg117Thr chr8 18124280 18124283 VAR_004607 + P18440:p.Val149Ile chr8 18124331 18124337 VAR_009511 + P18440:p.Arg166_Glu167delinsThrGln chr8 18124394 18124397 VAR_009069 + P18440:p.Arg187Gln chr8 18124448 18124451 VAR_009070 + P18440:p.Met205Val chr8 18124454 18124457 VAR_020384 + P18440:p.Thr207Ile chr8 18124475 18124478 VAR_009071 + P18440:p.Ser214Ala chr8 18124586 18124589 VAR_009072 + P18440:p.Asp251Val chr8 18124616 18124619 VAR_009073 + P18440:p.Glu261Lys chr8 18124622 18124625 VAR_009074 + P18440:p.Ile263Val chr9 19424978 19424981 VAR_027150 + Q5QJU3:p.Ala134Val chr8 17985781 17985784 VAR_038166 - Q13510:p.Gln22His chr8 17985778 17985781 VAR_038167 - Q13510:p.His23Asp chr8 17977346 17977349 VAR_021579 - Q13510:p.Tyr36Cys chr8 17971595 17971598 VAR_021580 - Q13510:p.96del chr8 17971592 17971595 VAR_021581 - Q13510:p.Val97Glu chr8 17969018 17969021 VAR_038168 - Q13510:p.Asp124Glu chr10 51675137 51675140 VAR_027064 - Q9NR71:p.Thr51Ala chr1 76109991 76109994 VAR_024174 - Q8WXJ9:p.Ser2Asn chr7 94759982 94759985 VAR_033512 + Q9Y574:p.Val17Leu chr22 28525312 28525315 VAR_025512 - Q9H1I8:p.Asp407His chr22 28525264 28525267 VAR_025513 - Q9H1I8:p.Pro423Ser chr22 28522577 28522580 VAR_019464 - Q9H1I8:p.Arg509Gln chr22 28513904 28513907 VAR_025514 - Q9H1I8:p.Arg639Leu chr12 101854960 101854963 VAR_013179 + P50553:p.Glu158Gly chr1 152221705 152221708 VAR_028949 - Q9NR48:p.Thr1771Ala chr2 105418108 105418111 VAR_029759 + Q9BVC5:p.Gly185Asp chr20 32311877 32311880 VAR_022125 + P42127:p.Val13Ala chr20 32314318 32314321 VAR_005003 + P42127:p.Gln61Pro chr17 77547831 77547834 VAR_027503 + Q9BZE9:p.Leu252Gln chr17 77560219 77560222 VAR_034745 + Q9BZE9:p.Val318Met chr17 77568017 77568020 VAR_027504 + Q9BZE9:p.Asp487Glu chr4 178738642 178738645 VAR_015427 - P20933:p.Val12Leu chr4 178736676 178736679 VAR_005069 - P20933:p.Gly60Asp chr4 178736640 178736643 VAR_005070 - P20933:p.Ser72Pro chr4 178735972 178735975 VAR_015428 - P20933:p.Gly100Glu chr4 178735969 178735972 VAR_005071 - P20933:p.Ala101Val chr4 178735149 178735152 VAR_015429 - P20933:p.Phe135Ser chr4 178735071 178735074 VAR_005072 - P20933:p.Arg161Gln chr4 178735065 178735068 VAR_005073 - P20933:p.Cys163Ser chr4 178730734 178730737 VAR_015430 - P20933:p.Gly252Glu chr4 178730734 178730737 VAR_015431 - P20933:p.Gly252Arg chr4 178730719 178730722 VAR_015432 - P20933:p.Thr257Ile chr4 178729550 178729553 VAR_005074 - P20933:p.Gly302Arg chr4 178729538 178729541 VAR_005075 - P20933:p.Cys306Arg chr9 130357208 130357211 VAR_000681 + P00966:p.Gly14Ser chr9 130357220 130357223 VAR_000682 + P00966:p.Ser18Leu chr9 130357223 130357226 VAR_015891 + P00966:p.Cys19Arg chr9 130363371 130363374 VAR_016013 + P00966:p.Val69Ala chr9 130363422 130363425 VAR_000683 + P00966:p.Arg86Cys chr9 130363422 130363425 VAR_015892 + P00966:p.Arg86His chr9 130363449 130363452 VAR_015893 + P00966:p.Arg95Ser chr9 130363452 130363455 VAR_015894 + P00966:p.Pro96Ser chr9 130363488 130363491 VAR_016014 + P00966:p.Arg108Leu chr9 130363515 130363518 VAR_015896 + P00966:p.Gly117Asp chr9 130363515 130363518 VAR_015895 + P00966:p.Gly117Ser chr9 130363518 130363521 VAR_000684 + P00966:p.Ala118Thr chr9 130363521 130363524 VAR_016015 + P00966:p.Thr119Ile chr9 130371713 130371716 VAR_015897 + P00966:p.Arg157Cys chr9 130371713 130371716 VAR_000685 + P00966:p.Arg157His chr9 130375813 130375816 VAR_015898 + P00966:p.Trp179Arg chr9 130375816 130375819 VAR_000686 + P00966:p.Ser180Asn chr9 130376429 130376432 VAR_015899 + P00966:p.Glu191Lys chr9 130376432 130376435 VAR_000687 + P00966:p.Ala192Val chr9 130385344 130385347 VAR_015900 + P00966:p.Arg265His chr9 130385356 130385359 VAR_015901 + P00966:p.Val269Met chr9 130385359 130385362 VAR_016007 + P00966:p.Glu270Gln chr9 130385365 130385368 VAR_000688 + P00966:p.Arg272Cys chr9 130385386 130385389 VAR_016008 + P00966:p.Arg279Gln chr9 130385389 130385390 VAR_000689 + P00966:p.Gly280Arg chr9 130394273 130394275 VAR_000689 + P00966:p.Gly280Arg chr9 130394281 130394284 VAR_015902 + P00966:p.Glu283Lys chr9 130394344 130394347 VAR_000690 + P00966:p.Arg304Trp chr9 130394362 130394365 VAR_016009 + P00966:p.Lys310Gln chr9 130394362 130394365 VAR_015903 + P00966:p.Lys310Arg chr9 130394404 130394405 VAR_000691 + P00966:p.Gly324Ser chr9 130399807 130399809 VAR_000691 + P00966:p.Gly324Ser chr9 130399920 130399923 VAR_015904 + P00966:p.Gly362Val chr9 130399923 130399926 VAR_016010 + P00966:p.Arg363Gly chr9 130399923 130399926 VAR_000692 + P00966:p.Arg363Leu chr9 130399923 130399926 VAR_016011 + P00966:p.Arg363Gln chr9 130399923 130399926 VAR_000693 + P00966:p.Arg363Trp chr9 130404482 130404485 VAR_016012 + P00966:p.Thr389Ile chr9 130404485 130404488 VAR_000694 + P00966:p.Gly390Arg chr9 117256560 117256563 VAR_036765 - O75129:p.Val70Ile chr20 30488148 30488151 VAR_028158 + Q8IXJ9:p.Leu1325Phe chr7 116618769 116618772 VAR_024175 - Q8WWH4:p.Lys216Thr chr15 23513149 23513152 VAR_022004 - O60312:p.Thr532Met chr15 23504532 23504535 VAR_022005 - O60312:p.Ala784Thr chr15 23477290 23477293 VAR_022006 - O60312:p.Trp1172Cys chr15 23477269 23477272 VAR_022007 - O60312:p.Ala1179Thr chr15 23477242 23477245 VAR_022008 - O60312:p.Ile1188Val chr15 23476186 23476189 VAR_022009 - O60312:p.Arg1298Ser chr4 47424973 47424976 VAR_020187 + Q9P241:p.Val1240Ile chr4 47434209 47434212 VAR_024371 + Q9P241:p.Ser1389Thr chrX 138622649 138622652 VAR_021827 - Q8NB49:p.Cys114Trp chrX 138612242 138612245 VAR_036501 - Q8NB49:p.Thr157Ile chrX 138557747 138557750 VAR_036502 - Q8NB49:p.Gln931Pro chr1 156911628 156911631 VAR_019934 + P50993:p.Thr378Asn chr1 156918107 156918110 VAR_019935 + P50993:p.Arg689Gln chr1 156918371 156918374 VAR_019936 + P50993:p.Met731Thr chr1 156918706 156918709 VAR_019937 + P50993:p.Leu764Pro chr1 156919527 156919530 VAR_019938 + P50993:p.Trp887Arg chr19 47181080 47181083 VAR_026735 - P13637:p.Ile274Thr chr19 47181071 47181074 VAR_026736 - P13637:p.Glu277Lys chr19 47174031 47174034 VAR_026737 - P13637:p.Thr613Met chr19 47166523 47166526 VAR_026738 - P13637:p.Ile758Ser chr19 47166457 47166460 VAR_026739 - P13637:p.Phe780Leu chr19 47166394 47166397 VAR_026740 - P13637:p.Asp801Tyr chr16 28821048 28821051 VAR_015588 + O14983:p.Pro789Leu chr12 109182380 109182383 VAR_008608 + P16615:p.Gly23Glu chr12 109182428 109182431 VAR_008609 + P16615:p.Asn39Thr chr12 109183239 109183242 VAR_008610 + P16615:p.Lys47Lys chr12 109183293 109183296 VAR_008611 + P16615:p.Leu65Ser chr12 109197189 109197192 VAR_008612 + P16615:p.Arg131Gln chr12 109223530 109223533 VAR_008613 + P16615:p.Pro160Leu chr12 109226925 109226928 VAR_008614 + P16615:p.Ser186Pro chr12 109228077 109228080 VAR_008615 + P16615:p.Gly211Asp chr12 109228113 109228116 VAR_008616 + P16615:p.Val223Met chr12 109228248 109228251 VAR_008617 + P16615:p.Cys268Phe chr12 109228374 109228377 VAR_008618 + P16615:p.Gly310Val chr12 109228398 109228401 VAR_008619 + P16615:p.Cys318Arg chr12 109228488 109228491 VAR_008620 + P16615:p.Ile348Thr chr12 109228515 109228518 VAR_009508 + P16615:p.Thr357Lys chr12 109233754 109233757 VAR_008621 + P16615:p.Glu412Gly chr12 109239868 109239871 VAR_008622 + P16615:p.Ser495Phe chr12 109240162 109240165 VAR_008623 + P16615:p.Cys560Arg chr12 109241225 109241228 VAR_017532 + P16615:p.Pro602Leu chr12 109241444 109241447 VAR_008624 + P16615:p.Phe675Ser chr12 109241468 109241471 VAR_008625 + P16615:p.Lys683Glu chr12 109242758 109242761 VAR_008626 + P16615:p.Asp702Asn chr12 109242887 109242890 VAR_008627 + P16615:p.Ala745Asp chr12 109242899 109242902 VAR_009509 + P16615:p.Gly749Arg chr12 109242914 109242917 VAR_008628 + P16615:p.754del chr12 109242947 109242950 VAR_008629 + P16615:p.Ser765Leu chr12 109242953 109242956 VAR_008630 + P16615:p.Asn767Ser chr12 109242959 109242962 VAR_008631 + P16615:p.Gly769Arg chr12 109243844 109243847 VAR_008632 + P16615:p.Ala803Thr chr12 109243949 109243952 VAR_008633 + P16615:p.Ala838Pro chr12 109245415 109245418 VAR_008634 + P16615:p.Val843Phe chr12 109245788 109245791 VAR_008635 + P16615:p.Cys875Gly chr12 109246541 109246544 VAR_008636 + P16615:p.Ser920Tyr chr12 109246610 109246613 VAR_008637 + P16615:p.His943Arg chr12 109246788 109246791 VAR_008638 + P16615:p.Pro975Arg chr17 3791091 3791094 VAR_036498 - Q93084:p.Arg674His chrX 152328158 152328161 VAR_027928 + Q16720:p.Ile198Met chr3 132155431 132155434 VAR_010130 + P98194:p.Pro201Leu chr3 132165522 132165525 VAR_008803 + P98194:p.Ala304Thr chr3 132165537 132165540 VAR_022672 + P98194:p.Gly309Cys chr3 132165564 132165567 VAR_008804 + P98194:p.Leu318Pro chr3 132165633 132165636 VAR_022673 + P98194:p.Leu341Pro chr3 132166494 132166497 VAR_010131 + P98194:p.Cys344Tyr chr3 132168883 132168886 VAR_022674 + P98194:p.Cys411Arg chr3 132176927 132176930 VAR_019523 + P98194:p.Cys490Phe chr3 132180927 132180930 VAR_010132 + P98194:p.Thr570Ile chr3 132180957 132180960 VAR_022675 + P98194:p.Ile580Val chr3 132182131 132182134 VAR_019524 + P98194:p.Leu584Pro chr3 132195503 132195506 VAR_008805 + P98194:p.Met641Arg chr3 132195515 132195518 VAR_008806 + P98194:p.Gly645Arg chr3 132197651 132197653 VAR_008807 + P98194:p.Thr709Met chr3 132198221 132198222 VAR_008807 + P98194:p.Thr709Met chr3 132198318 132198321 VAR_022676 + P98194:p.Asp742Tyr chr3 132198324 132198327 VAR_008808 + P98194:p.Pro744Arg chr3 132199268 132199271 VAR_022677 + P98194:p.Gly789Arg chr4 110031717 110031720 VAR_032342 - Q8TBG4:p.Ser185Pro chr1 111711359 111711362 VAR_033534 + P24539:p.Thr152Met chr1 111711359 111711362 VAR_013176 + P24539:p.Thr152Asn chr12 52349383 52349386 VAR_011920 - Q06055:p.Ser58Ile chr2 175869326 175869329 VAR_011922 - P48201:p.Gly93Glu chr4 42350027 42350030 VAR_022003 - Q9Y2Q0:p.Thr673Met chr18 53549902 53549905 VAR_043044 - O43520:p.Asn45Thr chr18 53524788 53524791 VAR_043045 - O43520:p.Asp70Asn chr18 53524764 53524767 VAR_029271 - O43520:p.His78Gln chr18 53522796 53522799 VAR_043046 - O43520:p.Leu127Pro chr18 53516042 53516045 VAR_043047 - O43520:p.Lys203Glu chr18 53513476 53513479 VAR_008809 - O43520:p.Leu288Ser chr18 53513425 53513428 VAR_043048 - O43520:p.Phe305Ile chr18 53513416 53513419 VAR_043049 - O43520:p.Gly308Asp chr18 53513416 53513419 VAR_008810 - O43520:p.Gly308Val chr18 53510224 53510227 VAR_043050 - O43520:p.Ile344Phe chr18 53510104 53510107 VAR_043051 - O43520:p.Arg384His chr18 53510077 53510080 VAR_043052 - O43520:p.Ile393Val chr18 53510047 53510050 VAR_043053 - O43520:p.Ser403Tyr chr18 53506721 53506724 VAR_043054 - O43520:p.Arg412Pro chr18 53506670 53506673 VAR_043055 - O43520:p.Glu429Ala chr18 53506598 53506601 VAR_043056 - O43520:p.Ser453Tyr chr18 53506595 53506598 VAR_043057 - O43520:p.Asp454Gly chr18 53506589 53506592 VAR_043058 - O43520:p.Thr456Met chr18 53502395 53502398 VAR_043059 - O43520:p.Tyr500His chr18 53502308 53502311 VAR_043060 - O43520:p.529del chr18 53502290 53502293 VAR_043061 - O43520:p.His535Leu chr18 53493220 53493223 VAR_015423 - O43520:p.Asp554Asn chr18 53493151 53493154 VAR_029272 - O43520:p.Ile577Val chr18 53493142 53493145 VAR_043062 - O43520:p.Ser580Asn chr18 53493082 53493085 VAR_043063 - O43520:p.Arg600Gln chr18 53493082 53493085 VAR_043064 - O43520:p.Arg600Trp chr18 53489745 53489748 VAR_043065 - O43520:p.Arg628Trp chr18 53487547 53487712 VAR_008811 - O43520:p.645_699del chr18 53487661 53487664 VAR_008812 - O43520:p.Ile661Thr chr18 53487622 53487625 VAR_043066 - O43520:p.Met674Thr chr18 53487580 53487583 VAR_043067 - O43520:p.Asp688Gly chr18 53487562 53487565 VAR_043068 - O43520:p.Ile694Thr chr18 53486668 53486671 VAR_043069 - O43520:p.Gly733Arg chr18 53480739 53480748 VAR_008814 - O43520:p.795_797del chr18 53479668 53479671 VAR_043070 - O43520:p.Lys814Asn chr18 53479551 53479554 VAR_043071 - O43520:p.Phe853Ser chr18 53479509 53479512 VAR_043072 - O43520:p.Arg867Cys chr18 53479452 53479455 VAR_036499 - O43520:p.Ala886Val chr18 53479434 53479437 VAR_008813 - O43520:p.Gly892Arg chr18 53473498 53473501 VAR_029273 - O43520:p.Arg952Gln chr18 53470854 53470857 VAR_043073 - O43520:p.Gly1040Arg chr18 53466939 53466942 VAR_036500 - O43520:p.Ile1178Met chr10 89540107 89540110 VAR_035903 - Q8NBU5:p.Val107Ile chr17 26185327 26185330 VAR_038572 + Q96QE3:p.Thr35Ser chr17 26185483 26185486 VAR_038573 + Q96QE3:p.Pro87Ser chr17 26185627 26185630 VAR_038574 + Q96QE3:p.Glu135Gly chr17 26185969 26185972 VAR_038575 + Q96QE3:p.Arg249Lys chr17 26191778 26191781 VAR_038576 + Q96QE3:p.Asn699His chr17 26238512 26238515 VAR_038577 + Q96QE3:p.Tyr1419His chr19 56299317 56299320 VAR_031402 - Q7Z7A3:p.Ala107Val chr19 3864789 3864792 VAR_017164 + Q86WG3:p.Ser301Arg chr12 49494388 49494391 VAR_024382 + P18846:p.Pro191Ala chr22 38242013 38242016 VAR_028253 + P18848:p.Gln22Pro chr22 38242822 38242825 VAR_029259 + P18848:p.Pro258Ala chr22 38243014 38243017 VAR_014768 + P18848:p.Glu322Asp chr1 158483398 158483401 VAR_022455 + P18850:p.Met67Leu chr1 158483398 158483401 VAR_022456 + P18850:p.Met67Val chr1 158492933 158492936 VAR_022457 + P18850:p.Ala145Pro chr1 158492969 158492972 VAR_022458 + P18850:p.Pro157Ser chr5 81390144 81390147 VAR_024370 + Q9H0Y0:p.Ser62Pro chr5 81584970 81584973 VAR_021562 + Q9H0Y0:p.Thr212Met chr5 81584994 81584997 VAR_021563 + Q9H0Y0:p.Pro220His chr6 106862993 106862996 VAR_036243 - Q9H1Y0:p.Lys58Met chr9 18629298 18629301 VAR_017174 + Q8N6G6:p.Ser242Asn chr15 82279638 82279641 VAR_027478 + P82987:p.His146Arg chr15 82344883 82344886 VAR_035809 + P82987:p.Val330Met chr15 82372905 82372908 VAR_035810 + P82987:p.Arg587His chr15 82430311 82430314 VAR_035811 + P82987:p.Arg855Cys chr15 82430311 82430314 VAR_027481 + P82987:p.Arg855His chr15 82430353 82430356 VAR_027482 + P82987:p.Leu869Phe chr15 82450939 82450942 VAR_035812 + P82987:p.Ala1315Glu chr15 82474431 82474434 VAR_027483 + P82987:p.Thr1370Ala chr15 82491105 82491108 VAR_027484 + P82987:p.Met1558Thr chr15 82497463 82497466 VAR_027485 + P82987:p.Thr1660Ile chr15 82497520 82497523 VAR_027486 + P82987:p.Arg1679His chr14 50128065 50128068 VAR_019446 + Q8WXF7:p.Ala161Pro chr14 50149744 50149747 VAR_017146 + Q8WXF7:p.Arg217Gln chr14 50149810 50149813 VAR_017147 + Q8WXF7:p.Arg239Cys chr14 50150855 50150858 VAR_019447 + Q8WXF7:p.His247Pro chr14 50150888 50150891 VAR_017148 + Q8WXF7:p.His258Arg chr14 50150891 50150894 VAR_017149 + Q8WXF7:p.Ser259Tyr chr2 38515999 38516002 VAR_032265 - Q8NHH9:p.Trp18Arg chr2 38449228 38449231 VAR_032266 - Q8NHH9:p.Asn272Ser chr2 38437308 38437311 VAR_032267 - Q8NHH9:p.Asp420His chr11 107603627 107603630 VAR_041545 + Q13315:p.Arg23Gln chr11 107603784 107603787 VAR_010798 + Q13315:p.Ser49Cys chr11 107611650 107611653 VAR_010799 + Q13315:p.Asp126Glu chr11 107611692 107611695 VAR_041546 + Q13315:p.Asp140His chr11 107619936 107619939 VAR_010800 + Q13315:p.Val182Leu chr11 107620731 107620734 VAR_010801 + Q13315:p.Lys224Glu chr11 107620809 107620812 VAR_041547 + Q13315:p.Arg250Gln chr11 107620935 107620938 VAR_010802 + Q13315:p.Pro292Leu chr11 107622965 107622968 VAR_010803 + Q13315:p.Ile323Val chr11 107622992 107622995 VAR_010804 + Q13315:p.Tyr332Cys chr11 107622995 107622998 VAR_041548 + Q13315:p.Ser333Phe chr11 107623007 107623010 VAR_041549 + Q13315:p.Arg337Cys chr11 107623007 107623010 VAR_041550 + Q13315:p.Arg337His chr11 107623046 107623049 VAR_010805 + Q13315:p.Ala350Thr chr11 107623052 107623055 VAR_010806 + Q13315:p.Ile352Thr chr11 107625031 107625034 VAR_041551 + Q13315:p.Val410Ala chr11 107626911 107626914 VAR_041552 + Q13315:p.Asn504Ser chr11 107626941 107626944 VAR_010807 + Q13315:p.Gly514Asp chr11 107627783 107627786 VAR_041553 + Q13315:p.Cys540Tyr chr11 107627801 107627804 VAR_041554 + Q13315:p.Leu546Val chr11 107627873 107627876 VAR_010808 + Q13315:p.Phe570Ser chr11 107627909 107627912 VAR_041555 + Q13315:p.Phe582Leu chr11 107629964 107629973 VAR_010809 + Q13315:p.Tyr705_Ser707delinsPheIlePro chr11 107629970 107629973 VAR_010810 + Q13315:p.Ser707Pro chr11 107633468 107633471 VAR_010812 + Q13315:p.Asn768Asp chr11 107633519 107633522 VAR_010813 + Q13315:p.Arg785Cys chr11 107643182 107643185 VAR_041556 + Q13315:p.Glu848Gln chr11 107643212 107643215 VAR_010814 + Q13315:p.Phe858Leu chr11 107643254 107643257 VAR_041557 + Q13315:p.Pro872Ser chr11 107644477 107644480 VAR_041558 + Q13315:p.Arg924Trp chr11 107644510 107644513 VAR_041559 + Q13315:p.Thr935Ala chr11 107647009 107647012 VAR_010815 + Q13315:p.Leu950Arg chr11 107647266 107647269 VAR_010816 + Q13315:p.Leu1001Gln chr11 107648508 107648511 VAR_010817 + Q13315:p.Met1040Val chr11 107648664 107648667 VAR_010818 + Q13315:p.Pro1054Arg chr11 107648748 107648751 VAR_010819 + Q13315:p.His1082Leu chr11 107648775 107648778 VAR_010820 + Q13315:p.Glu1091Asp chr11 107657063 107657066 VAR_041560 + Q13315:p.Ser1179Phe chr11 107660377 107660380 VAR_041561 + Q13315:p.Met1321Ile chr11 107664941 107664944 VAR_041562 + Q13315:p.His1380Tyr chr11 107664947 107664950 VAR_041563 + Q13315:p.Pro1382Ser chr11 107665022 107665025 VAR_010821 + Q13315:p.Ile1407Thr chr11 107665559 107665562 VAR_010822 + Q13315:p.Leu1420Phe chr11 107665559 107665562 VAR_010823 + Q13315:p.Leu1420Pro chr11 107665661 107665664 VAR_010824 + Q13315:p.Lys1454Asn chr11 107665688 107665691 VAR_010825 + Q13315:p.Phe1463Ser chr11 107665694 107665697 VAR_010826 + Q13315:p.Leu1465Pro chr11 107665706 107665709 VAR_041564 + Q13315:p.Ile1469Met chr11 107665724 107665727 VAR_041565 + Q13315:p.Tyr1475Cys chr11 107669333 107669336 VAR_010827 + Q13315:p.Pro1566Arg chr11 107669345 107669348 VAR_010828 + Q13315:p.Val1570Ala chr11 107673261 107673264 VAR_041566 + Q13315:p.Asn1650Ser chr11 107675688 107675691 VAR_010829 + Q13315:p.Asp1682His chr11 107675715 107675718 VAR_010830 + Q13315:p.Ser1691Arg chr11 107677621 107677624 VAR_041567 + Q13315:p.Asn1739Thr chr11 107677633 107677636 VAR_010831 + Q13315:p.Thr1743Ile chr11 107678903 107678909 VAR_010832 + Q13315:p.Ala1812_Phe1813delinsVal chr11 107680671 107680674 VAR_010833 + Q13315:p.Asp1853Asn chr11 107680671 107680674 VAR_010834 + Q13315:p.Asp1853Val chr11 107683886 107683889 VAR_010835 + Q13315:p.Leu1910His chr11 107683895 107683898 VAR_010836 + Q13315:p.Val1913Gly chr11 107683904 107683907 VAR_041568 + Q13315:p.Met1916Ile chr11 107686166 107686169 VAR_041569 + Q13315:p.Ala1945Thr chr11 107686190 107686193 VAR_010837 + Q13315:p.Thr1953Arg chr11 107686214 107686217 VAR_041570 + Q13315:p.Tyr1961Cys chr11 107688399 107688402 VAR_041572 + Q13315:p.Glu1991Asp chr11 107691798 107691801 VAR_010838 + Q13315:p.Asp2016Gly chr11 107692038 107692041 VAR_010839 + Q13315:p.Gly2063Glu chr11 107693309 107693312 VAR_010840 + Q13315:p.Ala2067Asp chr11 107693345 107693348 VAR_010841 + Q13315:p.Val2079Ile chr11 107695957 107695960 VAR_010842 + Q13315:p.Glu2139Gly chr11 107697274 107697277 VAR_010843 + Q13315:p.Glu2164Lys chr11 107701325 107701328 VAR_010844 + Q13315:p.Ser2218Cys chr11 107701343 107701355 VAR_010845 + Q13315:p.Met2224_Arg2227delinsIleSer chr11 107701352 107701355 VAR_010846 + Q13315:p.Arg2227Cys chr11 107701409 107701430 VAR_010847 + Q13315:p.Cys2246_Thr2252delinsHis chr11 107702006 107702009 VAR_010848 + Q13315:p.Ala2274Thr chr11 107702045 107702048 VAR_010849 + Q13315:p.Gly2287Ala chr11 107702105 107702108 VAR_041573 + Q13315:p.Leu2307Phe chr11 107703599 107703602 VAR_041574 + Q13315:p.Leu2332Pro chr11 107703671 107703674 VAR_041575 + Q13315:p.Ile2356Phe chr11 107705053 107705056 VAR_010850 + Q13315:p.Thr2396Ser chr11 107705089 107705092 VAR_041576 + Q13315:p.Ser2408Leu chr11 107705119 107705122 VAR_010851 + Q13315:p.Lys2418Lys chr11 107705125 107705128 VAR_010852 + Q13315:p.Ala2420Pro chr11 107705134 107705137 VAR_010853 + Q13315:p.Glu2423Gly chr11 107705137 107705140 VAR_010854 + Q13315:p.Val2424Gly chr11 107705146 107705152 VAR_010855 + Q13315:p.2427_2428del chr11 107706154 107706157 VAR_010856 + Q13315:p.Thr2438Ile chr11 107706166 107706169 VAR_010857 + Q13315:p.Gln2442Pro chr11 107706169 107706172 VAR_041577 + Q13315:p.Arg2443Gln chr11 107706232 107706235 VAR_041578 + Q13315:p.Cys2464Arg chr11 107706250 107706253 VAR_010858 + Q13315:p.Tyr2470Asp chr11 107706298 107706301 VAR_010859 + Q13315:p.Arg2486Gly chr11 107706313 107706316 VAR_010860 + Q13315:p.Trp2491Arg chr11 107706316 107706319 VAR_041579 + Q13315:p.Leu2492Arg chr11 107707821 107707830 VAR_010861 + Q13315:p.2546_2548del chr11 107707845 107707848 VAR_010862 + Q13315:p.His2554Asp chr11 107708782 107708788 VAR_010864 + Q13315:p.Asp2625_Ala2626delinsGluPro chr11 107708782 107708785 VAR_010863 + Q13315:p.Asp2625Gln chr11 107709860 107709863 VAR_010865 + Q13315:p.Leu2656Pro chr11 107709878 107709881 VAR_010866 + Q13315:p.2662del chr11 107709881 107709884 VAR_010867 + Q13315:p.2663del chr11 107709890 107709893 VAR_041580 + Q13315:p.Thr2666Ala chr11 107709896 107709899 VAR_010868 + Q13315:p.Glu2668Gly chr11 107710977 107710980 VAR_010869 + Q13315:p.Gly2695Ala chr11 107710998 107711001 VAR_010870 + Q13315:p.Ile2702Arg chr11 107711784 107711787 VAR_041581 + Q13315:p.Arg2719His chr11 107711793 107711796 VAR_010871 + Q13315:p.Leu2722Arg chr11 107711802 107711805 VAR_010872 + Q13315:p.Asp2725Gly chr11 107711802 107711805 VAR_010873 + Q13315:p.Asp2725Val chr11 107711805 107711808 VAR_010874 + Q13315:p.Ala2726Val chr11 107711823 107711826 VAR_010875 + Q13315:p.Phe2732Leu chr11 107719182 107719185 VAR_010876 + Q13315:p.Gly2765Ser chr11 107721688 107721691 VAR_010877 + Q13315:p.2810del chr11 107721730 107721733 VAR_010878 + Q13315:p.Cys2824Tyr chr11 107721739 107721742 VAR_010879 + Q13315:p.Phe2827Cys chr11 107721745 107721748 VAR_010880 + Q13315:p.Pro2829Leu chr11 107721754 107721757 VAR_010881 + Q13315:p.Arg2832Cys chr11 107721784 107721787 VAR_041582 + Q13315:p.Pro2842Arg chr11 107721805 107721808 VAR_010882 + Q13315:p.Arg2849Pro chr11 107721823 107721829 VAR_010884 + Q13315:p.Ser2855_Val2856delinsArgIle chr11 107721823 107721826 VAR_010883 + Q13315:p.Ser2855Arg chr11 107721838 107721841 VAR_010885 + Q13315:p.2860del chr11 107723229 107723232 VAR_010886 + Q13315:p.Gly2867Arg chr11 107723238 107723241 VAR_041583 + Q13315:p.Asp2870Asn chr11 107723241 107723247 VAR_010887 + Q13315:p.Arg2871_His2872delinsSer chr11 107723298 107723301 VAR_010888 + Q13315:p.Leu2890Val chr11 107729740 107729743 VAR_010889 + Q13315:p.Glu2904Gly chr11 107729755 107729758 VAR_010890 + Q13315:p.Arg2909Gly chr11 107741289 107741292 VAR_010892 + Q13315:p.Ala3006Pro chr11 107741295 107741298 VAR_010893 + Q13315:p.Arg3008Cys chr11 107741295 107741298 VAR_010894 + Q13315:p.Arg3008His chr11 107741325 107741328 VAR_010895 + Q13315:p.Lys3018Asn chr11 117198346 117198349 VAR_013280 - P54710:p.Gly41Arg chr19 40742807 40742810 VAR_019428 - P20648:p.Val265Ala chr13 51483432 51483435 VAR_023010 - P35670:p.Ala14Asp chr13 51447233 51447236 VAR_023011 - P35670:p.Asn41Ser chr13 51447101 51447104 VAR_000703 - P35670:p.Gly85Val chr13 51447068 51447071 VAR_000704 - P35670:p.Gly96Asp chr13 51446186 51446189 VAR_000705 - P35670:p.Ile390Val chr13 51446138 51446141 VAR_000706 - P35670:p.Ser406Ala chr13 51442833 51442836 VAR_000707 - P35670:p.Val446Leu chr13 51442803 51442806 VAR_000708 - P35670:p.Val456Leu chr13 51442773 51442776 VAR_000709 - P35670:p.Leu466Val chr13 51442695 51442698 VAR_000710 - P35670:p.Leu492Ser chr13 51440592 51440595 VAR_000711 - P35670:p.Asn565Ser chr13 51437050 51437056 VAR_010009 - P35670:p.Phe608_Asp609delinsTyr chr13 51437029 51437032 VAR_009004 - P35670:p.Arg616Gln chr13 51437029 51437032 VAR_023012 - P35670:p.Arg616Trp chr13 51434041 51434044 VAR_000712 - P35670:p.Gly626Ala chr13 51433996 51433999 VAR_023013 - P35670:p.Leu641Ser chr13 51433993 51433996 VAR_000713 - P35670:p.Asp642His chr13 51433984 51433987 VAR_000714 - P35670:p.Met645Arg chr13 51432410 51432413 VAR_000715 - P35670:p.Met665Ile chr13 51432392 51432398 VAR_009005 - P35670:p.670_671del chr13 51432335 51432338 VAR_023014 - P35670:p.Pro690Leu chr13 51432332 51432335 VAR_000716 - P35670:p.Gly691Arg chr13 51432326 51432329 VAR_023015 - P35670:p.Ser693Cys chr13 51430678 51430681 VAR_000717 - P35670:p.Leu708Pro chr13 51430672 51430675 VAR_010010 - P35670:p.Gly710Ala chr13 51430672 51430675 VAR_000718 - P35670:p.Gly710Arg chr13 51430672 51430675 VAR_000719 - P35670:p.Gly710Ser chr13 51430669 51430672 VAR_000720 - P35670:p.Gly711Glu chr13 51430669 51430672 VAR_009006 - P35670:p.Gly711Arg chr13 51430669 51430672 VAR_009007 - P35670:p.Gly711Trp chr13 51430663 51430666 VAR_000721 - P35670:p.Tyr713Cys chr13 51430639 51430642 VAR_023016 - P35670:p.Ser721Pro chr13 51430633 51430636 VAR_000722 - P35670:p.Arg723Gly chr13 51430591 51430594 VAR_023017 - P35670:p.Thr737Arg chr13 51430579 51430582 VAR_010011 - P35670:p.Tyr741Cys chr13 51430570 51430573 VAR_009008 - P35670:p.Ser744Pro chr13 51430561 51430564 VAR_000723 - P35670:p.Ile747Phe chr13 51430522 51430525 VAR_023018 - P35670:p.Pro760Leu chr13 51430507 51430510 VAR_023019 - P35670:p.Asp765Gly chr13 51430507 51430510 VAR_000724 - P35670:p.Asp765Asn chr13 51430498 51430501 VAR_023020 - P35670:p.Pro768His chr13 51430495 51430498 VAR_023021 - P35670:p.Met769Ile chr13 51430495 51430498 VAR_009009 - P35670:p.Met769Arg chr13 51430495 51430498 VAR_000725 - P35670:p.Met769Val chr13 51430474 51430477 VAR_000726 - P35670:p.Leu776Val chr13 51430468 51430471 VAR_000727 - P35670:p.Arg778Gly chr13 51430468 51430471 VAR_000728 - P35670:p.Arg778Leu chr13 51430468 51430471 VAR_000729 - P35670:p.Arg778Gln chr13 51430468 51430471 VAR_000730 - P35670:p.Arg778Trp chr13 51429714 51429717 VAR_000731 - P35670:p.Leu795Phe chr13 51429714 51429717 VAR_009010 - P35670:p.Leu795Arg chr13 51422487 51422490 VAR_000732 - P35670:p.Lys832Arg chr13 51422463 51422466 VAR_000733 - P35670:p.Pro840Leu chr13 51422412 51422415 VAR_000734 - P35670:p.Ile857Thr chr13 51422281 51422284 VAR_000735 - P35670:p.Val864Ile chr13 51422266 51422269 VAR_000736 - P35670:p.Gly869Arg chr13 51422266 51422269 VAR_009011 - P35670:p.Gly869Val chr13 51422251 51422254 VAR_000737 - P35670:p.Ala874Val chr13 51422203 51422206 VAR_023023 - P35670:p.Val890Met chr13 51422200 51422203 VAR_010012 - P35670:p.Gly891Val chr13 51422179 51422182 VAR_023024 - P35670:p.Gln898Arg chr13 51421909 51421912 VAR_023025 - P35670:p.Asp918Glu chr13 51421909 51421912 VAR_000738 - P35670:p.Asp918Asn chr13 51421906 51421909 VAR_000739 - P35670:p.Arg919Gly chr13 51421906 51421909 VAR_000740 - P35670:p.Arg919Trp chr13 51421900 51421903 VAR_000741 - P35670:p.Ser921Asn chr13 51421864 51421867 VAR_000742 - P35670:p.Thr933Pro chr13 51421858 51421861 VAR_000743 - P35670:p.Thr935Met chr13 51421834 51421837 VAR_000744 - P35670:p.Gly943Asp chr13 51421834 51421837 VAR_000745 - P35670:p.Gly943Ser chr13 51421816 51421819 VAR_023026 - P35670:p.Val949Gly chr13 51418579 51418582 VAR_010013 - P35670:p.Ile967Phe chr13 51418573 51418576 VAR_000747 - P35670:p.Arg969Gln chr13 51418555 51418558 VAR_023027 - P35670:p.Ser975Tyr chr13 51418549 51418552 VAR_000748 - P35670:p.Thr977Met chr13 51418525 51418528 VAR_009012 - P35670:p.Cys985Tyr chr13 51418504 51418507 VAR_000749 - P35670:p.Pro992Leu chr13 51418495 51418498 VAR_000750 - P35670:p.Val995Ala chr13 51418471 51418474 VAR_000751 - P35670:p.Ala1003Thr chr13 51418471 51418474 VAR_009013 - P35670:p.Ala1003Val chr13 51418426 51418429 VAR_000752 - P35670:p.Ala1018Val chr13 51416395 51416398 VAR_010014 - P35670:p.Thr1031Ile chr13 51416389 51416392 VAR_009014 - P35670:p.Thr1033Ala chr13 51416389 51416392 VAR_023028 - P35670:p.Thr1033Ser chr13 51416383 51416386 VAR_000753 - P35670:p.Gly1035Val chr13 51416374 51416377 VAR_010015 - P35670:p.Arg1038Lys chr13 51416365 51416368 VAR_009015 - P35670:p.Arg1041Pro chr13 51416365 51416368 VAR_000754 - P35670:p.Arg1041Trp chr13 51416359 51416362 VAR_000755 - P35670:p.Leu1043Pro chr13 51416332 51416335 VAR_009016 - P35670:p.Pro1052Leu chr13 51416305 51416308 VAR_009017 - P35670:p.Gly1061Glu chr13 51416299 51416302 VAR_009018 - P35670:p.Ala1063Val chr13 51416296 51416299 VAR_000756 - P35670:p.Glu1064Ala chr13 51416296 51416299 VAR_000757 - P35670:p.Glu1064Lys chr13 51416284 51416287 VAR_009019 - P35670:p.Glu1068Gly chr13 51416281 51416284 VAR_000758 - P35670:p.His1069Gln chr13 51414685 51414688 VAR_000759 - P35670:p.Leu1083Phe chr13 51414667 51414670 VAR_000760 - P35670:p.Gly1089Glu chr13 51414667 51414670 VAR_000761 - P35670:p.Gly1089Val chr13 51414652 51414655 VAR_023029 - P35670:p.Phe1094Leu chr13 51414649 51414652 VAR_009020 - P35670:p.Gln1095Pro chr13 51414640 51414643 VAR_023030 - P35670:p.Pro1098Arg chr13 51414637 51414640 VAR_023031 - P35670:p.Gly1099Ser chr13 51414631 51414634 VAR_000762 - P35670:p.Gly1101Arg chr13 51414628 51414631 VAR_000763 - P35670:p.Ile1102Thr chr13 51414622 51414625 VAR_009021 - P35670:p.Cys1104Phe chr13 51414616 51414619 VAR_010017 - P35670:p.Val1106Asp chr13 51414607 51414610 VAR_000764 - P35670:p.Val1109Met chr13 51414601 51414604 VAR_023032 - P35670:p.Gly1111Asp chr13 51413353 51413356 VAR_000765 - P35670:p.Val1140Ala chr13 51413347 51413350 VAR_000766 - P35670:p.Gln1142His chr13 51413344 51413347 VAR_023033 - P35670:p.Thr1143Asn chr13 51413335 51413338 VAR_000767 - P35670:p.Val1146Met chr13 51413329 51413332 VAR_000768 - P35670:p.Ile1148Thr chr13 51413320 51413323 VAR_009022 - P35670:p.Arg1151His chr13 51413314 51413317 VAR_000769 - P35670:p.Trp1153Cys chr13 51413314 51413317 VAR_010018 - P35670:p.Trp1153Arg chr13 51413269 51413272 VAR_023034 - P35670:p.Ala1168Ser chr13 51413266 51413269 VAR_009023 - P35670:p.Met1169Thr chr13 51413266 51413269 VAR_000770 - P35670:p.Met1169Val chr13 51413254 51413257 VAR_009024 - P35670:p.Glu1173Lys chr13 51413245 51413248 VAR_010019 - P35670:p.Gly1176Arg chr13 51413224 51413227 VAR_000771 - P35670:p.Ala1183Gly chr13 51413224 51413227 VAR_000772 - P35670:p.Ala1183Thr chr13 51411265 51411268 VAR_009025 - P35670:p.His1207Arg chr13 51411247 51411250 VAR_000775 - P35670:p.Gly1213Val chr13 51411235 51411241 VAR_000777 - P35670:p.1216_1217del chr13 51411238 51411241 VAR_000776 - P35670:p.Val1216Met chr13 51411226 51411229 VAR_000778 - P35670:p.Thr1220Met chr13 51411220 51411223 VAR_010020 - P35670:p.Asp1222Val chr13 51411220 51411223 VAR_000779 - P35670:p.Asp1222Tyr chr13 51411190 51411193 VAR_023035 - P35670:p.Thr1232Pro chr13 51409798 51409801 VAR_009026 - P35670:p.Val1239Gly chr13 51409780 51409783 VAR_023036 - P35670:p.Pro1245Ser chr13 51409771 51409774 VAR_023037 - P35670:p.Lys1248Asn chr13 51409750 51409753 VAR_023038 - P35670:p.Leu1255Ile chr13 51409729 51409732 VAR_009027 - P35670:p.Val1262Phe chr13 51409717 51409720 VAR_009028 - P35670:p.Gly1266Arg chr13 51409717 51409720 VAR_000781 - P35670:p.Gly1266Val chr13 51409714 51409717 VAR_000782 - P35670:p.Asp1267Ala chr13 51409705 51409708 VAR_000783 - P35670:p.Asn1270Ser chr13 51409702 51409705 VAR_023039 - P35670:p.Asp1271Asn chr13 51409696 51409699 VAR_000784 - P35670:p.Pro1273Leu chr13 51409681 51409684 VAR_000785 - P35670:p.Ala1278Val chr13 51409678 51409681 VAR_023040 - P35670:p.Asp1279Gly chr13 51409639 51409663 VAR_000786 - P35670:p.1285_1292del chr13 51409624 51409627 VAR_009029 - P35670:p.Val1297Ile chr13 51409518 51409521 VAR_023041 - P35670:p.Leu1305Pro chr13 51409503 51409506 VAR_000787 - P35670:p.Ser1310Arg chr13 51409467 51409470 VAR_000788 - P35670:p.Arg1322Pro chr13 51409452 51409455 VAR_009030 - P35670:p.Leu1327Val chr13 51409425 51409428 VAR_023042 - P35670:p.Ile1336Thr chr13 51407794 51407797 VAR_000790 - P35670:p.Trp1353Arg chr13 51407788 51407791 VAR_023043 - P35670:p.Gly1355Cys chr13 51407788 51407791 VAR_010021 - P35670:p.Gly1355Ser chr13 51407779 51407782 VAR_000791 - P35670:p.Ala1358Ser chr13 51407764 51407767 VAR_009031 - P35670:p.Ser1363Phe chr13 51407734 51407737 VAR_023044 - P35670:p.Leu1373Pro chr13 51407734 51407737 VAR_023045 - P35670:p.Leu1373Arg chr13 51406988 51406991 VAR_009032 - P35670:p.Thr1434Met chr1 26896653 26896656 VAR_027153 - Q9H9Y4:p.Gln227Arg chr1 26894860 26894863 VAR_027154 - Q9H9Y4:p.Arg264Gly chr17 17872312 17872315 VAR_023386 - Q8N5M1:p.Trp94Gly chr21 34203289 34203292 VAR_011930 - P48047:p.Lys98Arg chr1 11744461 11744464 VAR_023075 + Q6RW13:p.Ala143Val chr9 133335023 133335026 VAR_027117 + Q76LX8:p.Arg268Pro chr9 133338228 133338231 VAR_027121 + Q76LX8:p.Pro475Ser chr9 133350872 133350875 VAR_027130 + Q76LX8:p.Ser903Leu chr11 129848380 129848383 VAR_036150 + Q8TE58:p.Gln770Arg chr11 129848704 129848707 VAR_036151 + Q8TE58:p.Cys878Gly chr16 75953572 75953575 VAR_036152 - Q8TE60:p.Arg382Lys chr16 75947432 75947435 VAR_036153 - Q8TE60:p.Lys455Thr chr5 128891348 128891351 VAR_036154 + Q8TE59:p.Leu360Ile chr5 129067953 129067956 VAR_024599 + Q8TE59:p.Tyr1089Phe chr21 27138463 27138466 VAR_030001 - Q9UHI8:p.Ala227Pro chr5 178567275 178567278 VAR_020058 - O95450:p.Val245Ile chr5 178473578 178473581 VAR_020059 - O95450:p.Pro1177Ser chr1 157981478 157981481 VAR_030636 - O75173:p.Thr4Ile chr1 157979464 157979467 VAR_030637 - O75173:p.Asp304Asn chr1 157978481 157978484 VAR_030638 - O75173:p.Met369Val chr1 157976581 157976584 VAR_030639 - O75173:p.Pro552Thr chr1 157976545 157976548 VAR_030640 - O75173:p.Thr564Ala chr1 157974006 157974009 VAR_030641 - O75173:p.Arg836Lys chr21 27227081 27227084 VAR_021849 - Q9UNA0:p.Arg614His chr16 70161296 70161299 VAR_000560 - P17735:p.Gly362Val chr3 63942938 63942941 VAR_011823 + O15265:p.Lys264Arg chr3 63956524 63956527 VAR_011824 + O15265:p.Pro663Ser chr3 63957121 63957124 VAR_020143 + O15265:p.Val862Met chr9 91062764 91062767 VAR_016911 - Q13825:p.Ala240Val chr17 8051663 8051666 VAR_040383 - Q96GD4:p.Ala52Val chr17 8051316 8051319 VAR_027970 - Q96GD4:p.His100Gln chr17 8050792 8050795 VAR_040384 - Q96GD4:p.Thr179Met chr7 69672670 69672673 VAR_013864 + Q8WXX7:p.Ala303Ser chr1 65579538 65579541 VAR_026908 + O75061:p.Ser671Asn chr15 31947276 31947279 VAR_020144 - Q9NQS1:p.Gln228Arg chr2 148508682 148508685 VAR_032809 + P27037:p.Ser258Arg chr2 148509846 148509849 VAR_032810 + P27037:p.Asp306Asn chr3 38493846 38493849 VAR_013281 + Q13705:p.Arg40His chr3 38494872 38494875 VAR_041396 + Q13705:p.Pro176Arg chr3 38499767 38499770 VAR_013282 + Q13705:p.Val494Ile chr16 336708 336711 VAR_015589 - O15169:p.Leu106Arg chr16 300054 300057 VAR_015590 - O15169:p.Pro345Leu chr16 288231 288234 VAR_015591 - O15169:p.Gly425Ser chr16 287061 287064 VAR_015592 - O15169:p.Gly650Ser chr16 278188 278191 VAR_015593 - O15169:p.Arg841Gln chr22 16540574 16540577 VAR_024377 + Q9BXK5:p.Ile55Val chr22 16584473 16584476 VAR_024378 + Q9BXK5:p.Pro360Ser chr1 114136640 114136643 VAR_031475 - Q5TBC7:p.Asp90Asn chr15 78050459 78050462 VAR_020342 - Q16548:p.Cys19Tyr chr15 78050399 78050402 VAR_020343 - Q16548:p.Asn39Lys chr15 78050270 78050273 VAR_020344 - Q16548:p.Gly82Asp chr15 78050165 78050168 VAR_044059 - Q16548:p.Glu117Asp chr15 42791066 42791069 VAR_030660 + P61769:p.Ala11Pro chr7 150198960 150198963 VAR_025168 + P04920:p.Gly26Glu chr7 150201276 150201279 VAR_025169 + P04920:p.Glu202Val chr7 150201692 150201695 VAR_025170 + P04920:p.Arg311Trp chr7 150210885 150210888 VAR_025171 + P04920:p.Leu1204Phe chr17 39694522 39694525 VAR_014612 - P02730:p.Asp38Ala chr17 39694516 39694519 VAR_000798 - P02730:p.Glu40Lys chr17 39694501 39694504 VAR_036693 - P02730:p.Asp45Glu chr17 39694468 39694471 VAR_000799 - P02730:p.Lys56Glu chr17 39693673 39693676 VAR_039290 - P02730:p.Glu68Lys chr17 39693658 39693661 VAR_039291 - P02730:p.Leu73Met chr17 39693607 39693610 VAR_013784 - P02730:p.Glu90Lys chr17 39693541 39693544 VAR_014613 - P02730:p.Arg112Ser chr17 39693392 39693395 VAR_013785 - P02730:p.Gly130Arg chr17 39693341 39693344 VAR_013786 - P02730:p.Pro147Ser chr17 39692077 39692080 VAR_013787 - P02730:p.Ala285Asp chr17 39691412 39691415 VAR_000800 - P02730:p.Pro327Arg chr17 39690937 39690964 VAR_000801 - P02730:p.400_408del chr17 39690687 39690690 VAR_013788 - P02730:p.Arg432Trp chr17 39690657 39690660 VAR_014614 - P02730:p.Ile442Phe chr17 39690618 39690621 VAR_013789 - P02730:p.Gly455Glu chr17 39690429 39690432 VAR_013790 - P02730:p.Glu480Lys chr17 39690405 39690408 VAR_013791 - P02730:p.Val488Met chr17 39690399 39690402 VAR_013792 - P02730:p.Arg490Cys chr17 39690345 39690348 VAR_025090 - P02730:p.Glu508Lys chr17 39690315 39690318 VAR_000802 - P02730:p.Arg518Cys chr17 39688722 39688725 VAR_000803 - P02730:p.Pro548Leu chr17 39688713 39688716 VAR_013793 - P02730:p.Lys551Asn chr17 39688710 39688713 VAR_000804 - P02730:p.Thr552Ile chr17 39688701 39688704 VAR_013794 - P02730:p.Tyr555His chr17 39688695 39688698 VAR_000805 - P02730:p.Val557Met chr17 39688683 39688686 VAR_013795 - P02730:p.Pro561Ser chr17 39688671 39688674 VAR_013796 - P02730:p.Gly565Ala chr17 39688668 39688671 VAR_013797 - P02730:p.Pro566Ala chr17 39688668 39688671 VAR_013798 - P02730:p.Pro566Ser chr17 39688659 39688662 VAR_013799 - P02730:p.Asn569Lys chr17 39688608 39688611 VAR_014615 - P02730:p.Met586Leu chr17 39688599 39688602 VAR_015104 - P02730:p.Arg589Cys chr17 39688599 39688602 VAR_015105 - P02730:p.Arg589His chr17 39688599 39688602 VAR_015106 - P02730:p.Arg589Ser chr17 39688184 39688187 VAR_039292 - P02730:p.Arg602Pro chr17 39688151 39688154 VAR_015107 - P02730:p.Ser613Phe chr17 39687508 39687511 VAR_013800 - P02730:p.Arg646Gln chr17 39687508 39687511 VAR_013801 - P02730:p.Arg646Trp chr17 39687478 39687481 VAR_013802 - P02730:p.Arg656Cys chr17 39687478 39687481 VAR_013803 - P02730:p.Arg656His chr17 39687472 39687475 VAR_000806 - P02730:p.Glu658Lys chr17 39687457 39687460 VAR_000807 - P02730:p.663del chr17 39686261 39686264 VAR_039293 - P02730:p.Leu687Pro chr17 39686258 39686261 VAR_014616 - P02730:p.Ile688Val chr17 39686252 39686255 VAR_014617 - P02730:p.Ser690Gly chr17 39686219 39686222 VAR_015171 - P02730:p.Gly701Asp chr17 39686207 39686210 VAR_039294 - P02730:p.Asp705Tyr chr17 39686201 39686204 VAR_013804 - P02730:p.Leu707Pro chr17 39686180 39686183 VAR_013805 - P02730:p.Gly714Arg chr17 39686129 39686132 VAR_039295 - P02730:p.Ser731Pro chr17 39686120 39686123 VAR_039296 - P02730:p.His734Arg chr17 39686042 39686045 VAR_013806 - P02730:p.Arg760Gln chr17 39686042 39686045 VAR_013807 - P02730:p.Arg760Trp chr17 39684474 39684477 VAR_039297 - P02730:p.Ser773Pro chr17 39684444 39684447 VAR_013809 - P02730:p.Ile783Asn chr17 39684369 39684372 VAR_013810 - P02730:p.Arg808Cys chr17 39684369 39684372 VAR_013811 - P02730:p.Arg808His chr17 39684211 39684214 VAR_014618 - P02730:p.Arg832His chr17 39684205 39684208 VAR_013812 - P02730:p.His834Pro chr17 39684196 39684199 VAR_013813 - P02730:p.Thr837Ala chr17 39684196 39684199 VAR_013814 - P02730:p.Thr837Met chr17 39684157 39684160 VAR_015109 - P02730:p.850del chr17 39684145 39684148 VAR_000808 - P02730:p.Pro854Leu chr17 39684133 39684136 VAR_015108 - P02730:p.Ala858Asp chr17 39684121 39684124 VAR_014619 - P02730:p.Val862Ile chr17 39684103 39684106 VAR_013815 - P02730:p.Pro868Leu chr17 39684097 39684100 VAR_013816 - P02730:p.Arg870Trp chr3 162286866 162286869 VAR_025091 - O75752:p.Asp126Asn chr3 162286446 162286449 VAR_019646 - O75752:p.Glu266Ala chr3 162286431 162286434 VAR_019647 - O75752:p.Gly271Arg chr1 231969452 231969455 VAR_035860 - Q8NCR0:p.Asn203Ser chr13 30789745 30789748 VAR_027849 + Q6Y288:p.Glu370Lys chr11 65870833 65870836 VAR_025019 - O43505:p.Thr253Ser chr2 232088631 232088634 VAR_029633 + Q8NFL0:p.Val233Ile chr21 39954608 39954611 VAR_020460 + Q9Y2C3:p.Met85Thr chr21 39954785 39954788 VAR_033536 + Q9Y2C3:p.Arg144His chr12 56312077 56312080 VAR_012052 - Q00973:p.Leu35Val chr12 56310542 56310545 VAR_012053 - Q00973:p.Gly172Arg chr17 44601140 44601143 VAR_035990 + Q8NHY0:p.Pro459His chr12 514597 514600 VAR_027842 + Q6L9W6:p.Gly59Ser chr12 527663 527666 VAR_027843 + Q6L9W6:p.Arg265Gln chr12 531915 531918 VAR_027844 + Q6L9W6:p.Lys411Arg chr1 44116503 44116506 VAR_020487 + O60909:p.Gln122His chr3 120428483 120428486 VAR_022697 - O60513:p.Gln116Glu chr20 47706578 47706581 VAR_024468 - O43286:p.Gly61Ser chr20 47686309 47686312 VAR_033538 - O43286:p.Tyr371Asp chr9 101213013 101213016 VAR_023737 - Q14032:p.Met76Val chr6 90717291 90717294 VAR_033535 - Q9BYV9:p.Ala418Thr chr11 63795717 63795720 VAR_015380 - Q92934:p.Ala107Ser chr20 17653676 17653679 VAR_024372 + Q9H503:p.Asn3Asp chr20 17664414 17664417 VAR_013693 + Q9H503:p.Thr78Ser chr15 38538030 38538033 VAR_032359 + Q8TBE0:p.Glu26Gly chr15 38538498 38538501 VAR_032360 + Q8TBE0:p.Asp182His chr15 38538846 38538849 VAR_032361 + Q8TBE0:p.Gln298Lys chr16 1334506 1334509 VAR_026667 + O94812:p.Asp582Ala chr6 33651669 33651672 VAR_018829 - Q16611:p.Ala28Val chr4 103108252 103108255 VAR_027729 + Q8NDB2:p.Arg61His chr4 103196464 103196467 VAR_027730 + Q8NDB2:p.Ala383Thr chr19 531427 531430 VAR_013574 + P35613:p.Glu208Lys chr19 532326 532329 VAR_011720 + P35613:p.Gly269Val chr19 38051250 38051253 VAR_018997 - P82251:p.10del chr19 38047477 38047480 VAR_014363 - P82251:p.Ile44Thr chr19 38047453 38047456 VAR_018998 - P82251:p.Pro52Leu chr19 38047420 38047423 VAR_018999 - P82251:p.Gly63Arg chr19 38047402 38047405 VAR_019000 - P82251:p.Trp69Leu chr19 38047399 38047402 VAR_019001 - P82251:p.Ala70Val chr19 38047004 38047007 VAR_010256 - P82251:p.Gly105Arg chr19 38046950 38046953 VAR_019002 - P82251:p.Thr123Met chr19 38046941 38046944 VAR_019003 - P82251:p.Ala126Thr chr19 38046845 38046848 VAR_019004 - P82251:p.Ala158Ala chr19 38045300 38045303 VAR_010257 - P82251:p.Val170Met chr19 38045264 38045267 VAR_010258 - P82251:p.Ala182Thr chr19 38045249 38045252 VAR_019005 - P82251:p.Ile187Phe chr19 38045231 38045234 VAR_019006 - P82251:p.Ile193Ile chr19 38045225 38045228 VAR_010259 - P82251:p.Gly195Arg chr19 38044898 38044901 VAR_019007 - P82251:p.Leu223Met chr19 38044895 38044898 VAR_022603 - P82251:p.Ala224Val chr19 38044877 38044880 VAR_019008 - P82251:p.Trp230Arg chr19 38043377 38043380 VAR_019009 - P82251:p.Ile241Thr chr19 38043368 38043371 VAR_019010 - P82251:p.244del chr19 38042682 38042685 VAR_010260 - P82251:p.Gly259Arg chr19 38042676 38042679 VAR_014364 - P82251:p.Pro261Leu chr19 38026684 38026687 VAR_015885 - P82251:p.Val330Met chr19 38026681 38026684 VAR_022604 - P82251:p.Ala331Val chr19 38026675 38026678 VAR_019011 - P82251:p.Arg333Trp chr19 38026612 38026615 VAR_014365 - P82251:p.Ala354Thr chr19 38025000 38025003 VAR_019012 - P82251:p.Ser379Arg chr19 38024991 38024994 VAR_019013 - P82251:p.Ala382Thr chr6 31699543 31699546 VAR_023215 + P48634:p.Pro57Arg chr6 31700041 31700044 VAR_023216 + P48634:p.Pro106Leu chr6 31707918 31707921 VAR_035797 + P48634:p.Arg1152His chr6 31709357 31709360 VAR_023222 + P48634:p.Pro1503Leu chr6 31712605 31712608 VAR_023227 + P48634:p.Pro2006Ser chr6 31738387 31738390 VAR_020096 - O95872:p.Ala235Val chr19 54150027 54150030 VAR_013575 + Q07812:p.Gly11Glu chr19 54150867 54150870 VAR_007809 + Q07812:p.Gly67Arg chr19 54151354 54151357 VAR_013576 + Q07812:p.Gly108Val chr14 34339276 34339279 VAR_028049 - Q9NRL2:p.Asp344Glu chr12 75244504 75244507 VAR_026391 - Q8TAM1:p.Arg34Pro chr12 75244459 75244462 VAR_026392 - Q8TAM1:p.Arg49Trp chr12 75243959 75243962 VAR_026393 - Q8TAM1:p.Cys91Trp chr12 75243722 75243725 VAR_026394 - Q8TAM1:p.Leu170Ser chr12 75243647 75243650 VAR_026395 - Q8TAM1:p.Cys195Trp chr12 75243641 75243644 VAR_026396 - Q8TAM1:p.Tyr197Cys chr12 75243512 75243515 VAR_026397 - Q8TAM1:p.Val240Gly chr12 75243308 75243311 VAR_026398 - Q8TAM1:p.Leu308Phe chr12 75243299 75243302 VAR_026399 - Q8TAM1:p.Ser311Ala chr12 75243245 75243248 VAR_026400 - Q8TAM1:p.Ser329Leu chr12 75243143 75243146 VAR_026401 - Q8TAM1:p.Pro363Leu chr12 75243104 75243107 VAR_026402 - Q8TAM1:p.Leu376Phe chr12 75242990 75242993 VAR_026403 - Q8TAM1:p.Leu414Ser chr12 75242495 75242498 VAR_026404 - Q8TAM1:p.Lys579Arg chr12 75242393 75242396 VAR_026405 - Q8TAM1:p.Tyr613Cys chr12 75242393 75242396 VAR_026406 - Q8TAM1:p.Tyr613His chr12 75242201 75242204 VAR_026407 - Q8TAM1:p.Gly677Val chr12 75242165 75242168 VAR_026408 - Q8TAM1:p.Thr689Pro chr4 124020766 124020769 VAR_034919 + Q6ZW61:p.Ile39Thr chr4 124020988 124020991 VAR_034920 + Q6ZW61:p.113del chr4 124021027 124021030 VAR_034921 + Q6ZW61:p.Glu126Asp chr4 124021126 124021129 VAR_034922 + Q6ZW61:p.Pro159Leu chr4 124021159 124021162 VAR_034923 + Q6ZW61:p.Ile170Val chr4 124021234 124021237 VAR_034924 + Q6ZW61:p.Lys195Arg chr4 124021363 124021366 VAR_034925 + Q6ZW61:p.Asn238Lys chr4 124021516 124021519 VAR_034926 + Q6ZW61:p.Ala289Pro chr4 124021936 124021939 VAR_034928 + Q6ZW61:p.Ser429Thr chr4 124022032 124022035 VAR_034929 + Q6ZW61:p.Asn461His chr4 124022050 124022053 VAR_034930 + Q6ZW61:p.Asp467Asn chr4 124022101 124022104 VAR_034931 + Q6ZW61:p.Arg484Lys chr4 124022269 124022272 VAR_034932 + Q6ZW61:p.Gly540Val chr4 124022494 124022497 VAR_034933 + Q6ZW61:p.Ala615Val chr11 66035114 66035117 VAR_038880 + Q8NFJ9:p.His35Arg chr11 66035283 66035286 VAR_038881 + Q8NFJ9:p.Lys53Glu chr11 66039595 66039598 VAR_038882 + Q8NFJ9:p.Asp148Asn chr11 66039631 66039633 VAR_038883 + Q8NFJ9:p.Arg160Gln chr11 66039739 66039740 VAR_038883 + Q8NFJ9:p.Arg160Gln chr11 66043669 66043675 VAR_017214 + Q8NFJ9:p.200_201del chr11 66043771 66043774 VAR_017215 + Q8NFJ9:p.Glu234Lys chr11 66047584 66047587 VAR_038884 + Q8NFJ9:p.Gly305Ser chr11 66050223 66050226 VAR_038885 + Q8NFJ9:p.389del chr11 66050226 66050229 VAR_017216 + Q8NFJ9:p.Met390Arg chr11 66050814 66050817 VAR_038886 + Q8NFJ9:p.Tyr434Ser chr11 66054973 66054976 VAR_038887 + Q8NFJ9:p.Leu503His chr11 66055018 66055021 VAR_017217 + Q8NFJ9:p.Leu518Pro chr11 66055018 66055021 VAR_038888 + Q8NFJ9:p.Leu518Gln chr16 55111206 55111209 VAR_038889 - Q9BXC9:p.Arg23Pro chr16 55105985 55105988 VAR_013163 - Q9BXC9:p.Val75Gly chr16 55105898 55105901 VAR_013164 - Q9BXC9:p.Asp104Ala chr16 55102676 55102679 VAR_029747 - Q9BXC9:p.Ala122Val chr16 55102673 55102676 VAR_013165 - Q9BXC9:p.Ile123Val chr16 55102283 55102286 VAR_038890 - Q9BXC9:p.Asp174Glu chr16 55093864 55093867 VAR_013166 - Q9BXC9:p.Arg315Gln chr16 55093864 55093867 VAR_013167 - Q9BXC9:p.Arg315Trp chr16 55093762 55093765 VAR_038891 - Q9BXC9:p.Leu349Trp chr16 55091205 55091208 VAR_029748 - Q9BXC9:p.Ala504Val chr16 55089278 55089281 VAR_013168 - Q9BXC9:p.Thr558Ile chr16 55088393 55088396 VAR_013169 - Q9BXC9:p.Arg632Pro chr16 55077132 55077135 VAR_038892 - Q9BXC9:p.Arg643His chr15 70789152 70789155 VAR_038894 + Q96RK4:p.Lys46Arg chr15 70803954 70803957 VAR_017049 + Q96RK4:p.Asn165His chr15 70810788 70810791 VAR_028722 + Q96RK4:p.Glu268Lys chr15 70810966 70810969 VAR_013170 + Q96RK4:p.Arg295Pro chr15 70811062 70811065 VAR_017050 + Q96RK4:p.Leu327Pro chr15 70814520 70814523 VAR_038895 + Q96RK4:p.Leu351Arg chr15 70814529 70814532 VAR_017054 + Q96RK4:p.Ile354Thr chr15 70814559 70814562 VAR_017051 + Q96RK4:p.Ala364Glu chr15 70814571 70814574 VAR_038896 + Q96RK4:p.Asp368Gly chr15 70815288 70815291 VAR_028723 + Q96RK4:p.Ala393Val chr15 70816275 70816278 VAR_017052 + Q96RK4:p.Ser457Ile chr15 70816320 70816323 VAR_017053 + Q96RK4:p.Met472Val chr15 70816927 70816930 VAR_038897 + Q96RK4:p.Pro503Leu chr2 170175784 170175787 VAR_025316 + Q8N3I7:p.Asn184Ser chr2 170179643 170179646 VAR_025317 + Q8N3I7:p.Arg207His chr4 123140406 123140409 VAR_038893 - Q8IWZ6:p.Ile66Phe chr4 123133548 123133551 VAR_017212 - Q8IWZ6:p.Thr211Ile chr4 123126231 123126234 VAR_017213 - Q8IWZ6:p.His323Arg chr2 60607578 60607581 VAR_035553 - Q9H165:p.Ser142Phe chr14 98711932 98711935 VAR_035554 - Q9C0K0:p.Ser331Pro chr11 8889638 8889641 VAR_021565 + Q9NQ31:p.Arg23Lys chr16 73827076 73827079 VAR_035798 - P56945:p.Ser407Thr chr20 48845102 48845105 VAR_016031 + Q8TDM0:p.Glu56Asp chr1 85454041 85454044 VAR_013208 - O95999:p.Ala5Ser chr1 85454008 85454011 VAR_013209 - O95999:p.Val16Glu chr1 85448574 85448577 VAR_013210 - O95999:p.Lys31Glu chr1 85448532 85448535 VAR_013211 - O95999:p.Lys45Gln chr1 85448511 85448514 VAR_013212 - O95999:p.Thr52Ile chr1 85448496 85448499 VAR_013213 - O95999:p.Cys57Arg chr1 85448493 85448496 VAR_013214 - O95999:p.Arg58Gly chr1 85448493 85448496 VAR_013215 - O95999:p.Arg58Gln chr1 85448475 85448478 VAR_013216 - O95999:p.Arg64Lys chr1 85448388 85448391 VAR_013217 - O95999:p.Asn93Ser chr1 85448364 85448367 VAR_013218 - O95999:p.Asp101Glu chr1 85445630 85445633 VAR_013219 - O95999:p.Ser134Pro chr1 85445573 85445576 VAR_013220 - O95999:p.Met153Val chr1 85445528 85445531 VAR_013221 - O95999:p.Thr168Ala chr1 85445510 85445513 VAR_013222 - O95999:p.Leu174Ser chr1 85445402 85445405 VAR_013223 - O95999:p.210del chr1 85445393 85445396 VAR_013224 - O95999:p.Gly213Glu chr1 85445378 85445381 VAR_013225 - O95999:p.Ser218Phe chr1 85445342 85445345 VAR_013226 - O95999:p.Val230Ile chr18 59136858 59136861 VAR_000827 - P10415:p.Thr7Ser chr18 59136750 59136753 VAR_014716 - P10415:p.Ala43Thr chr18 59136702 59136705 VAR_000828 - P10415:p.Pro59Ser chr18 59136600 59136603 VAR_000829 - P10415:p.Val93Ile chr3 188928910 188928913 VAR_019970 - P41182:p.Ala493Thr chr3 188923040 188923043 VAR_014825 - P41182:p.His676Tyr chr12 120944597 120944600 VAR_033539 + Q4VC05:p.Asn120Thr chrX 39690567 39690570 VAR_020921 - Q6W2J9:p.Pro85Leu chr2 219351317 219351320 VAR_032086 + Q9Y276:p.Gly35Arg chr2 219351347 219351350 VAR_032087 + Q9Y276:p.Arg45Cys chr2 219351446 219351449 VAR_018149 + Q9Y276:p.Ser78Gly chr2 219351509 219351512 VAR_018159 + Q9Y276:p.Pro99Leu chr2 219351652 219351655 VAR_032088 + Q9Y276:p.Arg114Trp chr2 219351742 219351745 VAR_018160 + Q9Y276:p.Arg144Gln chr2 219351988 219351991 VAR_018161 + Q9Y276:p.Arg155Pro chr2 219352072 219352075 VAR_032089 + Q9Y276:p.Arg183His chr2 219352075 219352078 VAR_032090 + Q9Y276:p.Arg184Cys chr2 219352846 219352849 VAR_018162 + Q9Y276:p.Ser277Asn chr2 219353124 219353127 VAR_032091 + Q9Y276:p.Gln302Glu chr2 219353136 219353139 VAR_032092 + Q9Y276:p.Arg306His chr2 219353199 219353202 VAR_018163 + Q9Y276:p.Val327Ala chr2 219353410 219353413 VAR_018164 + Q9Y276:p.Val353Met chr8 6715705 6715708 VAR_018405 - P60022:p.Val38Ile chr8 6715675 6715678 VAR_014925 - P60022:p.Ala48Val chr8 6715618 6715621 VAR_014926 - P60022:p.Cys67Ser chr4 104371398 104371401 VAR_023602 - Q9BUT1:p.Asn70Ser chr11 27636681 27636684 VAR_018260 - P23560:p.Thr2Ile chr11 27636489 27636492 VAR_004626 - P23560:p.Val66Met chr11 27636462 27636465 VAR_011797 - P23560:p.Gln75His chr11 27636312 27636315 VAR_011798 - P23560:p.Arg125Met chr11 27636306 27636309 VAR_011799 - P23560:p.Arg127Leu chr17 38224372 38224375 VAR_010384 - Q14457:p.Ala103Val chr17 38216447 38216450 VAR_005236 - Q14457:p.Ile403Thr chr11 61475869 61475872 VAR_000830 + O76090:p.Thr6Pro chr11 61475869 61475872 VAR_017366 + O76090:p.Thr6Arg chr11 61475878 61475881 VAR_000831 + O76090:p.Val9Ala chr11 61475878 61475881 VAR_000832 + O76090:p.Val9Met chr11 61475881 61475884 VAR_000833 + O76090:p.Ala10Thr chr11 61475881 61475884 VAR_010468 + O76090:p.Ala10Val chr11 61475884 61475887 VAR_017367 + O76090:p.Asn11Ile chr11 61475890 61475893 VAR_010469 + O76090:p.Arg13His chr11 61475899 61475902 VAR_010470 + O76090:p.Ser16Phe chr11 61475902 61475905 VAR_010471 + O76090:p.Phe17Cys chr11 61475914 61475917 VAR_000834 + O76090:p.Leu21Val chr11 61475923 61475926 VAR_000835 + O76090:p.Trp24Cys chr11 61475926 61475929 VAR_000836 + O76090:p.Arg25Gln chr11 61475926 61475929 VAR_000837 + O76090:p.Arg25Trp chr11 61475929 61475932 VAR_017368 + O76090:p.Gly26Arg chr11 61475932 61475935 VAR_000838 + O76090:p.Ser27Arg chr11 61475938 61475941 VAR_017369 + O76090:p.Tyr29His chr11 61475941 61475944 VAR_017370 + O76090:p.Lys30Arg chr11 61475974 61475977 VAR_017371 + O76090:p.Leu41Pro chr11 61475992 61475995 VAR_017372 + O76090:p.Arg47His chr11 61479173 61479176 VAR_000839 + O76090:p.Gln58Leu chr11 61479200 61479203 VAR_000840 + O76090:p.Leu67Val chr11 61479218 61479221 VAR_010472 + O76090:p.Ile73Asn chr11 61479239 61479242 VAR_017373 + O76090:p.Phe80Leu chr11 61479245 61479248 VAR_010473 + O76090:p.Leu82Val chr11 61479770 61479773 VAR_000841 + O76090:p.Tyr85His chr11 61479782 61479785 VAR_017374 + O76090:p.Val89Ala chr11 61479788 61479791 VAR_017375 + O76090:p.Thr91Ile chr11 61479791 61479794 VAR_010474 + O76090:p.Arg92Cys chr11 61479791 61479794 VAR_010475 + O76090:p.Arg92His chr11 61479791 61479794 VAR_000842 + O76090:p.Arg92Ser chr11 61479794 61479797 VAR_000843 + O76090:p.Trp93Cys chr11 61479803 61479806 VAR_010476 + O76090:p.Gln96His chr11 61479812 61479815 VAR_000844 + O76090:p.Asn99Lys chr11 61479815 61479818 VAR_000845 + O76090:p.Leu100Arg chr11 61479818 61479821 VAR_017376 + O76090:p.Pro101Thr chr11 61479821 61479824 VAR_017377 + O76090:p.Trp102Arg chr11 61479827 61479830 VAR_000846 + O76090:p.Asp104Glu chr11 61479827 61479830 VAR_017378 + O76090:p.Asp104His chr11 61479830 61479833 VAR_025731 + O76090:p.Arg105Cys chr11 61479854 61479857 VAR_025732 + O76090:p.Phe113Leu chr11 61479872 61479875 VAR_010477 + O76090:p.Glu119Gln chr11 61479914 61479917 VAR_017379 + O76090:p.Asn133Lys chr11 61479920 61479923 VAR_010478 + O76090:p.Gly135Ser chr11 61479935 61479938 VAR_017380 + O76090:p.Leu140Arg chr11 61479938 61479941 VAR_000847 + O76090:p.Arg141His chr11 61479953 61479956 VAR_010479 + O76090:p.Ala146Lys chr11 61479971 61479974 VAR_043493 + O76090:p.Pro152Ala chr11 61480992 61480995 VAR_017381 + O76090:p.Ala195Val chr11 61481010 61481013 VAR_025733 + O76090:p.Ile201Thr chr11 61481028 61481031 VAR_025734 + O76090:p.Leu207Ile chr11 61481034 61481037 VAR_000848 + O76090:p.Ser209Asn chr11 61481443 61481446 VAR_010480 + O76090:p.Thr216Ile chr11 61481449 61481452 VAR_000849 + O76090:p.Arg218Cys chr11 61481449 61481452 VAR_010481 + O76090:p.Arg218His chr11 61481449 61481452 VAR_000850 + O76090:p.Arg218Gln chr11 61481449 61481452 VAR_000851 + O76090:p.Arg218Ser chr11 61481458 61481461 VAR_025735 + O76090:p.Cys221Trp chr11 61481461 61481464 VAR_025736 + O76090:p.Gly222Val chr11 61481467 61481470 VAR_000852 + O76090:p.Leu224Met chr11 61481467 61481470 VAR_025737 + O76090:p.Leu224Pro chr11 61481476 61481479 VAR_000853 + O76090:p.Tyr227Cys chr11 61481476 61481479 VAR_000854 + O76090:p.Tyr227Asn chr11 61481488 61481491 VAR_000855 + O76090:p.Ser231Arg chr11 61481500 61481503 VAR_010482 + O76090:p.Val235Leu chr11 61481500 61481503 VAR_000856 + O76090:p.Val235Met chr11 61481506 61481509 VAR_000857 + O76090:p.Thr237Arg chr11 61482199 61482202 VAR_025738 + O76090:p.Thr241Asn chr11 61482205 61482208 VAR_025739 + O76090:p.Ala243Thr chr11 61482205 61482208 VAR_000858 + O76090:p.Ala243Val chr11 61482301 61482304 VAR_025740 + O76090:p.Val275Ile chr11 61482304 61482307 VAR_025741 + O76090:p.Phe276Leu chr11 61483554 61483557 VAR_010483 + O76090:p.Gln293Lys chr11 61483557 61483560 VAR_025742 + O76090:p.Leu294Val chr11 61483560 61483563 VAR_025743 + O76090:p.Ile295Thr chr11 61483560 61483563 VAR_000859 + O76090:p.295del chr11 61483563 61483566 VAR_025744 + O76090:p.Asn296His chr11 61483563 61483566 VAR_010484 + O76090:p.Asn296Ser chr11 61483566 61483569 VAR_000860 + O76090:p.Pro297Ala chr11 61483566 61483569 VAR_010485 + O76090:p.Pro297Ser chr11 61483569 61483572 VAR_025745 + O76090:p.Phe298Ser chr11 61483572 61483575 VAR_000861 + O76090:p.Gly299Glu chr11 61483575 61483578 VAR_010486 + O76090:p.Glu300Asp chr11 61483575 61483578 VAR_000862 + O76090:p.Glu300Lys chr11 61483578 61483581 VAR_000863 + O76090:p.Asp301Glu chr11 61483578 61483581 VAR_000864 + O76090:p.Asp301Asn chr11 61483581 61483584 VAR_025746 + O76090:p.Asp302Gly chr11 61483581 61483584 VAR_025747 + O76090:p.Asp302His chr11 61483581 61483584 VAR_025748 + O76090:p.Asp302Val chr11 61483584 61483587 VAR_025749 + O76090:p.Asp303Glu chr11 61483590 61483593 VAR_000865 + O76090:p.Phe305Ser chr11 61483593 61483596 VAR_025750 + O76090:p.Glu306Asp chr11 61483593 61483596 VAR_025751 + O76090:p.Glu306Gly chr11 61483596 61483599 VAR_025752 + O76090:p.Thr307Ala chr11 61483596 61483599 VAR_010487 + O76090:p.Thr307Ile chr11 61483599 61483602 VAR_025753 + O76090:p.Asn308Ser chr11 61483605 61483608 VAR_000866 + O76090:p.Ile310Thr chr11 61483608 61483611 VAR_000867 + O76090:p.Val311Gly chr11 61483611 61483614 VAR_000868 + O76090:p.Asp312Asn chr11 61483939 61483942 VAR_043494 + O76090:p.Val317Met chr11 61483963 61483966 VAR_043495 + O76090:p.Met325Thr chr11 61484059 61484062 VAR_043496 + O76090:p.Ala357Val chr11 61486774 61486777 VAR_010488 + O76090:p.Glu525Ala chr11 61486870 61486873 VAR_010489 + O76090:p.Glu557Lys chr11 61486882 61486885 VAR_010490 + O76090:p.Thr561Ala chr11 61486900 61486903 VAR_010491 + O76090:p.Leu567Phe chr11 61486933 61486936 VAR_009278 + O76090:p.Glu578Val chrX 102124320 102124323 VAR_042667 - Q9HBH7:p.Val9Leu chrX 102124314 102124317 VAR_042668 - Q9HBH7:p.Ser11Asn chrX 102124308 102124311 VAR_042669 - Q9HBH7:p.Ser13Ile chrX 102124305 102124308 VAR_042670 - Q9HBH7:p.Met14Val chrX 102124296 102124299 VAR_042671 - Q9HBH7:p.Ala17Val chrX 102124227 102124230 VAR_025756 - Q9HBH7:p.Ala40Val chrX 102124149 102124152 VAR_025757 - Q9HBH7:p.Met66Ile chr20 17425589 17425592 VAR_024492 - Q12934:p.Gly345Ser chr20 17422748 17422751 VAR_036683 - Q12934:p.Asp656Glu chr3 134650154 134650157 VAR_012163 + Q13515:p.233del chr3 134651973 134651976 VAR_012164 + Q13515:p.Arg287Trp chr3 33081979 33081982 VAR_037938 - P16278:p.147del chr3 33038061 33038076 VAR_037941 - P16278:p.377_381del chr3 33030668 33030671 VAR_003337 - P16278:p.Trp509Cys chr5 135409960 135409963 VAR_031531 + Q15582:p.Val113Ile chr5 135409990 135409993 VAR_031532 + Q15582:p.Asp123His chr5 135409993 135409996 VAR_005076 + Q15582:p.Arg124Cys chr5 135409993 135409996 VAR_005077 + Q15582:p.Arg124His chr5 135409993 135409996 VAR_005078 + Q15582:p.Arg124Leu chr5 135409993 135409996 VAR_012444 + Q15582:p.Arg124Ser chr5 135409996 135410002 VAR_012445 + Q15582:p.125_126del chr5 135410576 135410579 VAR_014335 + Q15582:p.Ile200Phe chr5 135413059 135413062 VAR_031533 + Q15582:p.Leu269Phe chr5 135419342 135419345 VAR_031534 + Q15582:p.Arg496Gly chr5 135419357 135419360 VAR_005079 + Q15582:p.Pro501Thr chr5 135419369 135419372 VAR_031535 + Q15582:p.Val505Asp chr5 135419381 135419384 VAR_031536 + Q15582:p.Leu509Arg chr5 135420256 135420259 VAR_012446 + Q15582:p.Leu518Pro chr5 135420256 135420259 VAR_018484 + Q15582:p.Leu518Arg chr5 135420283 135420286 VAR_005080 + Q15582:p.Leu527Arg chr5 135420316 135420319 VAR_018485 + Q15582:p.Thr538Arg chr5 135420319 135420322 VAR_031537 + Q15582:p.Val539Asp chr5 135420322 135420325 VAR_031538 + Q15582:p.Phe540Ser chr5 135420322 135420325 VAR_005081 + Q15582:p.540del chr5 135420334 135420337 VAR_012447 + Q15582:p.Asn544Ser chr5 135420340 135420343 VAR_031539 + Q15582:p.Ala546Asp chr5 135420340 135420343 VAR_012448 + Q15582:p.Ala546Thr chr5 135420355 135420358 VAR_031540 + Q15582:p.Pro551Gln chr5 135420367 135420370 VAR_005082 + Q15582:p.Arg555Gln chr5 135420367 135420370 VAR_005083 + Q15582:p.Arg555Trp chr5 135422703 135422706 VAR_031541 + Q15582:p.Leu569Arg chr5 135422712 135422715 VAR_031543 + Q15582:p.His572Arg chr5 135422712 135422715 VAR_031542 + Q15582:p.572del chr5 135422778 135422781 VAR_031544 + Q15582:p.Gly594Val chr5 135424481 135424484 VAR_012449 + Q15582:p.Asn622His chr5 135424481 135424484 VAR_018486 + Q15582:p.Asn622Lys chr5 135424484 135424487 VAR_018487 + Q15582:p.Gly623Asp chr5 135424487 135424493 VAR_031545 + Q15582:p.624_625del chr5 135424493 135424496 VAR_018488 + Q15582:p.His626Pro chr5 135424493 135424496 VAR_012450 + Q15582:p.His626Arg chr5 135424508 135424511 VAR_018489 + Q15582:p.Val631Asp chr5 135426259 135426262 VAR_031546 + Q15582:p.Arg666Ser chr7 64891206 64891209 VAR_037914 - P08236:p.Cys38Gly chr7 64891164 64891167 VAR_037915 - P08236:p.Ser52Phe chr7 64889036 64889039 VAR_037916 - P08236:p.Gly136Arg chr7 64889000 64889003 VAR_037917 - P08236:p.Pro148Ser chr7 64888994 64888997 VAR_037918 - P08236:p.Glu150Lys chr7 64888988 64888991 VAR_037919 - P08236:p.Asp152Asn chr7 64888916 64888919 VAR_037920 - P08236:p.Leu176Phe chr7 64888611 64888614 VAR_003196 - P08236:p.Arg216Trp chr7 64884160 64884163 VAR_037921 - P08236:p.Tyr320Cys chr7 64884160 64884163 VAR_037922 - P08236:p.Tyr320Ser chr7 64884070 64884073 VAR_037923 - P08236:p.Lys350Asn chr7 64884067 64884070 VAR_037924 - P08236:p.His351Tyr chr7 64884058 64884061 VAR_003197 - P08236:p.Ala354Val chr7 64883784 64883787 VAR_037925 - P08236:p.Arg374Cys chr7 64883760 64883763 VAR_003198 - P08236:p.Arg382Cys chr7 64883760 64883763 VAR_037926 - P08236:p.Arg382His chr7 64883682 64883685 VAR_037927 - P08236:p.Pro408Ser chr7 64883517 64883520 VAR_037929 - P08236:p.Arg435Pro chr7 64879463 64879466 VAR_037930 - P08236:p.Arg477Trp chr7 64877035 64877038 VAR_037931 - P08236:p.Tyr495Cys chr7 64876996 64876999 VAR_037932 - P08236:p.Tyr508Cys chr7 64873532 64873535 VAR_037933 - P08236:p.Gly572Asp chr7 64873517 64873520 VAR_037934 - P08236:p.Arg577Leu chr7 64870171 64870174 VAR_037935 - P08236:p.Lys606Asn chr7 64870156 64870159 VAR_003199 - P08236:p.Arg611Trp chr7 64870132 64870135 VAR_003200 - P08236:p.Ala619Val chr7 64870111 64870114 VAR_037936 - P08236:p.Tyr626His chr7 64870108 64870111 VAR_003201 - P08236:p.Trp627Cys chr7 64870042 64870045 VAR_016179 - P08236:p.Leu649Pro chr5 78457713 78457716 VAR_015886 + Q93088:p.Arg239Gln chr7 97578200 97578203 VAR_033515 - Q9UHR4:p.Ser460Thr chr10 59942930 59942933 VAR_029658 + Q9H694:p.Gly8Asp chr10 60258558 60258561 VAR_033542 + Q9H694:p.Ser943Pro chr22 16601315 16601318 VAR_018845 - P55957:p.Ser10Gly chr22 16595426 16595429 VAR_025332 - P55957:p.His162Gln chr7 43584003 43584006 VAR_019230 + P53004:p.Ala3Thr chr7 43600838 43600841 VAR_019231 + P53004:p.Leu37Val chr7 43604118 43604121 VAR_014851 + P53004:p.Gln56Arg chr8 68366732 68366735 VAR_028749 - Q9Y6D6:p.Asp273Tyr chr8 68362822 68362825 VAR_036155 - Q9Y6D6:p.Gly316Glu chr20 47003520 47003523 VAR_037438 + Q9Y6D5:p.Glu209Lys chr20 47023141 47023144 VAR_028750 + Q9Y6D5:p.Ala527Val chr20 47038452 47038455 VAR_036156 + Q9Y6D5:p.Lys794Glu chr22 41844580 41844583 VAR_029179 + Q13323:p.Glu19Lys chr22 41849767 41849770 VAR_029180 + Q13323:p.Leu148Pro chr2 127550491 127550494 VAR_037425 - O00499:p.Lys35Asn chr2 127542795 127542798 VAR_037426 - O00499:p.Asp151Asn chr11 101744479 101744482 VAR_025016 + Q13490:p.Met453Val chr11 101753585 101753588 VAR_025017 + Q13490:p.Ala506Val chr11 101753820 101753823 VAR_025018 + Q13490:p.Pro549Ser chr11 101701227 101701230 VAR_021069 + Q13489:p.Lys260Arg chr11 101707058 101707061 VAR_021070 + Q13489:p.Arg401Lys chrX 122745365 122745368 VAR_022282 + P98170:p.Asn107Ser chrX 122745443 122745446 VAR_022283 + P98170:p.Ser133Phe chrX 122745770 122745773 VAR_022284 + P98170:p.Asp242Glu chrX 122760044 122760047 VAR_022285 + P98170:p.Gln423Pro chr17 73731185 73731188 VAR_021071 + O15392:p.Glu129Lys chr20 61341171 61341174 VAR_020253 + Q96CA5:p.Glu223Gln chr14 95800519 95800522 VAR_014359 + P46663:p.Ala250Val chr14 95773236 95773239 VAR_003457 + P30411:p.Arg14Cys chr14 95777477 95777480 VAR_012284 + P30411:p.Gly354Glu chr17 25600199 25600202 VAR_010896 - Q13867:p.Ile443Val chr15 89093910 89093913 VAR_022295 + P54132:p.Lys137Arg chr15 89096112 89096115 VAR_022296 + P54132:p.Thr298Met chr15 89105377 89105380 VAR_022297 + P54132:p.Arg591Gln chr15 89107330 89107333 VAR_006901 + P54132:p.Gln672Arg chr15 89113785 89113788 VAR_016032 + P54132:p.Ile841Thr chr15 89113791 89113794 VAR_006902 + P54132:p.Thr843Ile chr15 89127101 89127104 VAR_022298 + P54132:p.Pro868Leu chr15 89127131 89127134 VAR_016033 + P54132:p.Cys878Arg chr15 89129162 89129165 VAR_009138 + P54132:p.Gly891Glu chr15 89129192 89129195 VAR_009139 + P54132:p.Cys901Tyr chr15 89138486 89138489 VAR_009140 + P54132:p.Cys1036Phe chr15 89138543 89138546 VAR_006903 + P54132:p.Cys1055Ser chr15 89148454 89148457 VAR_022299 + P54132:p.Val1205Ile chr15 89148466 89148469 VAR_014912 + P54132:p.Ser1209Thr chr15 89148478 89148481 VAR_022300 + P54132:p.Glu1213Lys chr15 89155524 89155527 VAR_022301 + P54132:p.Val1321Ile chr19 45656233 45656236 VAR_019168 - P30043:p.Arg46Gln chr12 27444831 27444834 VAR_030158 + Q8WYA1:p.Asn340Ser chr12 27462341 27462344 VAR_030159 + Q8WYA1:p.Ala574Val chr8 22078995 22078998 VAR_036141 + P13497:p.Asp45His chr20 6698881 6698884 VAR_020061 + P12643:p.Ser37Ala chr20 6699088 6699091 VAR_020062 + P12643:p.Ala106Thr chr20 6707112 6707115 VAR_024232 + P12643:p.Arg190Ser chr4 82324327 82324330 VAR_020063 + P12645:p.Arg192Gln chr14 53488417 53488420 VAR_043531 - P12644:p.Ser91Cys chr14 53488411 53488414 VAR_043532 - P12644:p.Glu93Gly chr14 53488342 53488345 VAR_043533 - P12644:p.Thr116Ser chr14 53487276 53487279 VAR_043534 - P12644:p.Asn150Lys chr14 53487270 53487273 VAR_016174 - P12644:p.Val152Ala chr14 53487051 53487054 VAR_043535 - P12644:p.Thr225Ala chr14 53487048 53487051 VAR_043536 - P12644:p.Arg226Trp chr14 53486625 53486628 VAR_043537 - P12644:p.Ser367Thr chr6 7807552 7807555 VAR_036200 + P22004:p.Ala343Asp chr6 7825458 7825461 VAR_036201 + P22004:p.Pro476Leu chr1 39898545 39898548 VAR_014474 - P34820:p.His293Arg chr7 33898861 33898864 VAR_028166 + Q8N8U9:p.Arg555Trp chr2 203155138 203155141 VAR_013670 + Q13873:p.Cys60Tyr chr2 203155204 203155207 VAR_033109 + Q13873:p.Gln82His chr2 203157848 203157851 VAR_013671 + Q13873:p.Cys117Tyr chr2 203157851 203157854 VAR_013672 + Q13873:p.Cys118Trp chr2 203157866 203157869 VAR_013673 + Q13873:p.Cys123Arg chr2 203157866 203157869 VAR_013674 + Q13873:p.Cys123Ser chr2 203205130 203205133 VAR_033110 + Q13873:p.Gly182Asp chr2 203209098 203209101 VAR_013675 + Q13873:p.Glu224Asp chr2 203221093 203221096 VAR_013676 + Q13873:p.Cys347Tyr chr2 203222942 203222945 VAR_013677 + Q13873:p.Cys420Arg chr2 203242977 203242980 VAR_013678 + Q13873:p.Cys483Arg chr2 203242983 203242986 VAR_013679 + Q13873:p.Asp485Gly chr2 203243001 203243004 VAR_013680 + Q13873:p.Arg491Gln chr2 203243001 203243004 VAR_013681 + Q13873:p.Arg491Trp chr2 203243064 203243067 VAR_013682 + Q13873:p.Lys512Thr chr2 203243085 203243088 VAR_013683 + Q13873:p.Asn519Lys chr2 203246216 203246219 VAR_019996 + Q13873:p.Ser775Asn chr2 203246588 203246591 VAR_033111 + Q13873:p.Arg899Pro chr10 88625758 88625761 VAR_041397 + P36894:p.Pro2Thr chr10 88639902 88639905 VAR_041398 + P36894:p.Phe58Tyr chr10 88639914 88639917 VAR_022828 + P36894:p.Tyr62Asp chr10 88641876 88641879 VAR_022829 + P36894:p.Cys82Tyr chr10 88649566 88649569 VAR_015533 + P36894:p.Cys124Arg chr10 88649584 88649587 VAR_022830 + P36894:p.Cys130Arg chr10 88669051 88669054 VAR_015534 + P36894:p.Ala338Asp chr10 88669165 88669168 VAR_015535 + P36894:p.Cys376Tyr chr10 88671416 88671419 VAR_022831 + P36894:p.Arg443Cys chr10 88673117 88673120 VAR_041399 + P36894:p.Val450Met chr10 88673177 88673180 VAR_022832 + P36894:p.Met470Thr chr10 88673225 88673228 VAR_041400 + P36894:p.Arg486Gln chr4 96382843 96382846 VAR_041401 + O00238:p.Arg31His chr4 96402233 96402235 VAR_041402 + O00238:p.Arg149Trp chr4 96403311 96403312 VAR_041402 + O00238:p.Arg149Trp chr4 96408202 96408205 VAR_023819 + O00238:p.Ile200Lys chr4 96408274 96408277 VAR_041403 + O00238:p.Arg224His chr4 96409653 96409656 VAR_041404 + O00238:p.Asp297Asn chr4 96427110 96427113 VAR_041405 + O00238:p.Arg371Gln chr4 96432948 96432951 VAR_037967 + O00238:p.Arg486Gln chr4 96432948 96432951 VAR_023820 + O00238:p.Arg486Trp chr12 48518435 48518438 VAR_032614 - Q7Z5W3:p.Ser288Arg chr15 57759777 57759780 VAR_018837 - Q12982:p.Ser24Thr chr3 114481476 114481479 VAR_035503 + Q9BWV1:p.Val713Met chr3 114485162 114485165 VAR_033600 + Q9BWV1:p.Lys883Asn chr3 114485960 114485963 VAR_033601 + Q9BWV1:p.Gln915His chr1 146684976 146684979 VAR_033630 + Q9Y3E2:p.Gly98Ala chr1 37827488 37827491 VAR_027063 + Q53HL2:p.Lys12Asn chr11 64845470 64845473 VAR_023001 + O14613:p.Asn176Ser chr11 64845515 64845518 VAR_023002 + O14613:p.Ile191Phe chr20 55532517 55532520 VAR_023213 - Q8NI51:p.Glu50Gln chr20 55517166 55517169 VAR_032766 - Q8NI51:p.Gln525Glu chr6 56587211 56587214 VAR_031894 - O94833:p.His1116Tyr chr6 56571334 56571337 VAR_031895 - O94833:p.Asn1319Lys chr6 56541328 56541331 VAR_031896 - O94833:p.Leu2011Val chr20 31060098 31060101 VAR_036550 + Q8N4F0:p.Ala20Val chr20 31060131 31060134 VAR_024515 + Q8N4F0:p.Lys31Met chr22 31156361 31156364 VAR_024516 - Q8NFQ6:p.Val269Ala chr22 31156262 31156265 VAR_033631 - Q8NFQ6:p.Val302Leu chr22 31136503 31136506 VAR_024517 - Q8NFQ6:p.Ser451Pro chr20 31083159 31083162 VAR_033632 + Q8NFQ5:p.Thr16Met chr20 31085743 31085746 VAR_024518 + Q8NFQ5:p.Val97Ile chr20 31086371 31086374 VAR_033633 + Q8NFQ5:p.Pro149Thr chr20 31090951 31090954 VAR_033634 + Q8NFQ5:p.Ser347Gly chr21 37231488 37231491 VAR_035800 - P50747:p.Glu42Asp chr21 37230966 37230969 VAR_021218 - P50747:p.Leu216Arg chr21 37230903 37230906 VAR_005084 - P50747:p.Leu237Pro chr21 37224600 37224603 VAR_009196 - P50747:p.Val333Glu chr21 37191094 37191097 VAR_009197 - P50747:p.Thr462Ile chr21 37059338 37059341 VAR_013009 - P50747:p.Arg508Trp chr21 37059329 37059332 VAR_021219 - P50747:p.Asn511Lys chr21 37059212 37059215 VAR_009198 - P50747:p.Val550Met chr21 37053979 37053982 VAR_009199 - P50747:p.Asp571Asn chr21 37053949 37053952 VAR_009200 - P50747:p.Gly581Ser chr21 37053946 37053949 VAR_021220 - P50747:p.Gly582Arg chr21 37050891 37050894 VAR_009201 - P50747:p.610del chr6 166549679 166549682 VAR_021982 - O15178:p.Gly177Asp chr6 166542453 166542456 VAR_024656 - O15178:p.Gly356Ser chr6 166542420 166542423 VAR_032457 - O15178:p.Val367Met chr6 166542414 166542417 VAR_020250 - O15178:p.Asn369Ser chr6 166542315 166542318 VAR_032458 - O15178:p.Glu402Lys chr7 139954517 139954520 VAR_026113 - P15056:p.Ala246Pro chr7 139954484 139954487 VAR_026114 - P15056:p.Gln257Arg chr7 139953422 139953425 VAR_040391 - P15056:p.Pro301Ser chr7 139934605 139934608 VAR_018613 - P15056:p.Arg462Ile chr7 139934602 139934605 VAR_018614 - P15056:p.Ile463Ser chr7 139934599 139934602 VAR_018615 - P15056:p.Gly464Glu chr7 139934599 139934602 VAR_018616 - P15056:p.Gly464Val chr7 139934593 139934596 VAR_018617 - P15056:p.Gly466Ala chr7 139934593 139934596 VAR_018618 - P15056:p.Gly466Glu chr7 139934593 139934596 VAR_018512 - P15056:p.Gly466Val chr7 139934590 139934593 VAR_035096 - P15056:p.Ser467Ala chr7 139934587 139934590 VAR_035097 - P15056:p.Phe468Ser chr7 139934584 139934587 VAR_018620 - P15056:p.Gly469Ala chr7 139934584 139934587 VAR_018621 - P15056:p.Gly469Glu chr7 139934584 139934587 VAR_018622 - P15056:p.Gly469Arg chr7 139934584 139934587 VAR_040392 - P15056:p.Gly469Val chr7 139931036 139931039 VAR_026115 - P15056:p.Leu485Phe chr7 139930994 139930997 VAR_026116 - P15056:p.Lys499Glu chr7 139930988 139930991 VAR_026117 - P15056:p.Glu501Gly chr7 139930988 139930991 VAR_026118 - P15056:p.Glu501Lys chr7 139906360 139906363 VAR_018623 - P15056:p.Glu586Lys chr7 139906336 139906339 VAR_018624 - P15056:p.Asp594Gly chr7 139906333 139906336 VAR_018625 - P15056:p.Phe595Leu chr7 139906330 139906333 VAR_018626 - P15056:p.Gly596Arg chr7 139906330 139906333 VAR_035098 - P15056:p.Gly596Val chr7 139906327 139906330 VAR_018513 - P15056:p.Leu597Arg chr7 139906327 139906330 VAR_018627 - P15056:p.Leu597Val chr7 139906318 139906321 VAR_018628 - P15056:p.Val600Asp chr7 139906318 139906321 VAR_018629 - P15056:p.Val600Glu chr7 139906315 139906318 VAR_018630 - P15056:p.Lys601Glu chr17 38529609 38529612 VAR_020679 - P38398:p.Glu10Lys chr17 38529606 38529609 VAR_007754 - P38398:p.Val11Ala chr17 38529576 38529579 VAR_007755 - P38398:p.Ile21Val chr17 38529573 38529576 VAR_007756 - P38398:p.Leu22Ser chr17 38529570 38529573 VAR_020680 - P38398:p.Glu23Lys chr17 38521312 38521315 VAR_035947 - P38398:p.Leu30Phe chr17 38512027 38512030 VAR_007757 - P38398:p.Cys61Gly chr17 38512018 38512021 VAR_007758 - P38398:p.Cys64Gly chr17 38512018 38512021 VAR_007759 - P38398:p.Cys64Tyr chr17 38500392 38500395 VAR_008759 - P38398:p.Glu227Lys chr17 38500356 38500359 VAR_007760 - P38398:p.His239Arg chr17 38500260 38500263 VAR_007761 - P38398:p.Val271Met chr17 38500248 38500251 VAR_019944 - P38398:p.Gly275Ser chr17 38500035 38500038 VAR_008760 - P38398:p.Pro346Ser chr17 38500005 38500008 VAR_007762 - P38398:p.Gln356Arg chr17 38499966 38499969 VAR_007763 - P38398:p.369del chr17 38499936 38499939 VAR_007764 - P38398:p.Ile379Met chr17 38499690 38499693 VAR_007765 - P38398:p.Phe461Leu chr17 38499678 38499681 VAR_007766 - P38398:p.Tyr465Asp chr17 38499552 38499555 VAR_007767 - P38398:p.Arg507Ile chr17 38499417 38499420 VAR_007768 - P38398:p.Gly552Val chr17 38499105 38499108 VAR_020682 - P38398:p.Asn656Ile chr17 38498994 38498997 VAR_007769 - P38398:p.Asp693Asn chr17 38498904 38498907 VAR_020110 - P38398:p.Asn723Asp chr17 38498826 38498829 VAR_020683 - P38398:p.Asp749Tyr chr17 38498799 38498802 VAR_035948 - P38398:p.Leu758Phe chr17 38498757 38498760 VAR_007770 - P38398:p.Val772Ala chr17 38498739 38498742 VAR_035949 - P38398:p.Gly778Cys chr17 38498613 38498616 VAR_007771 - P38398:p.Lys820Glu chr17 38498595 38498598 VAR_007772 - P38398:p.Thr826Lys chr17 38498568 38498571 VAR_020684 - P38398:p.His835Tyr chr17 38498550 38498553 VAR_007773 - P38398:p.Arg841Trp chr17 38498505 38498508 VAR_020685 - P38398:p.Tyr856His chr17 38498475 38498478 VAR_020686 - P38398:p.Arg866Gln chr17 38498460 38498463 VAR_007774 - P38398:p.Pro871Leu chr17 38498409 38498412 VAR_020687 - P38398:p.His888Tyr chr17 38498397 38498400 VAR_007775 - P38398:p.Leu892Ser chr17 38498298 38498301 VAR_021913 - P38398:p.Ile925Leu chr17 38498193 38498196 VAR_007776 - P38398:p.Gly960Asp chr17 38498106 38498109 VAR_020111 - P38398:p.Phe989Ser chr17 38498049 38498052 VAR_007777 - P38398:p.Met1008Ile chr17 38497998 38498001 VAR_007778 - P38398:p.Thr1025Ile chr17 38497959 38497962 VAR_007779 - P38398:p.Glu1038Gly chr17 38497953 38497956 VAR_007780 - P38398:p.Ser1040Asn chr17 38497932 38497935 VAR_007781 - P38398:p.Val1047Ala chr17 38497893 38497896 VAR_020688 - P38398:p.Glu1060Ala chr17 38497656 38497659 VAR_020689 - P38398:p.Ser1139Ile chr17 38497653 38497656 VAR_019945 - P38398:p.Ser1140Gly chr17 38497623 38497626 VAR_007782 - P38398:p.Pro1150Ser chr17 38497524 38497527 VAR_007783 - P38398:p.Lys1183Arg chr17 38497512 38497515 VAR_020690 - P38398:p.Ser1187Ile chr17 38497473 38497476 VAR_020691 - P38398:p.Gln1200His chr17 38497461 38497464 VAR_020692 - P38398:p.Arg1204Ile chr17 38497452 38497455 VAR_020693 - P38398:p.Lys1207Asn chr17 38497443 38497446 VAR_020694 - P38398:p.Glu1210Gly chr17 38497422 38497425 VAR_020695 - P38398:p.Ser1217Tyr chr17 38497416 38497419 VAR_007784 - P38398:p.Glu1219Asp chr17 38497395 38497398 VAR_020696 - P38398:p.Phe1226Leu chr17 38497344 38497347 VAR_020697 - P38398:p.Arg1243Gly chr17 38497182 38497185 VAR_020698 - P38398:p.Ser1297Pro chr17 38497032 38497035 VAR_007785 - P38398:p.Arg1347Gly chr17 38488085 38488088 VAR_008761 - P38398:p.Lys1406Asn chr17 38488070 38488073 VAR_020699 - P38398:p.Met1411Thr chr17 38488010 38488013 VAR_007786 - P38398:p.Ser1431Pro chr17 38487974 38487977 VAR_007787 - P38398:p.Arg1443Gly chr17 38487974 38487977 VAR_020112 - P38398:p.Arg1443Gln chr17 38480012 38480015 VAR_007788 - P38398:p.Ser1512Ile chr17 38476773 38476776 VAR_007789 - P38398:p.Thr1561Ile chr17 38476638 38476641 VAR_007790 - P38398:p.Lys1606Glu chr17 38476617 38476620 VAR_007791 - P38398:p.Ser1613Gly chr17 38476596 38476599 VAR_019946 - P38398:p.Thr1620Ala chr17 38476572 38476575 VAR_007793 - P38398:p.Met1628Thr chr17 38476572 38476575 VAR_007792 - P38398:p.Met1628Val chr17 38476545 38476548 VAR_007794 - P38398:p.Pro1637Leu chr17 38476533 38476536 VAR_008762 - P38398:p.Ala1641Pro chr17 38476500 38476503 VAR_007795 - P38398:p.Met1652Ile chr17 38473229 38473232 VAR_020700 - P38398:p.Val1665Met chr17 38473154 38473157 VAR_020701 - P38398:p.Lys1690Gln chr17 38469477 38469480 VAR_020702 - P38398:p.Cys1697Arg chr17 38469471 38469474 VAR_020703 - P38398:p.Arg1699Trp chr17 38469444 38469447 VAR_007796 - P38398:p.Ala1708Glu chr17 38469429 38469432 VAR_007797 - P38398:p.Val1713Gly chr17 38462624 38462627 VAR_007798 - P38398:p.Pro1749Arg chr17 38456612 38456615 VAR_007799 - P38398:p.Met1775Arg chr17 38456609 38456612 VAR_008764 - P38398:p.Pro1776Ser chr17 38454711 38454714 VAR_020704 - P38398:p.Leu1786Pro chr17 38453216 38453219 VAR_008765 - P38398:p.Pro1812Ser chr6 33050274 33050277 VAR_041904 + P25440:p.Gly30Glu chr6 33050331 33050334 VAR_041905 + P25440:p.Ala49Gly chr6 33050331 33050334 VAR_041906 + P25440:p.Ala49Ser chr6 33052027 33052030 VAR_041907 + P25440:p.Ala212Pro chr6 33052105 33052108 VAR_022132 + P25440:p.Leu238Phe chr6 33052171 33052174 VAR_041908 + P25440:p.Pro260Gln chr6 33053601 33053604 VAR_029300 + P25440:p.Ala474Val chr6 33053940 33053943 VAR_029301 + P25440:p.Arg547Lys chr6 33053973 33053976 VAR_041909 + P25440:p.Arg558Gly chr6 33054006 33054009 VAR_041910 + P25440:p.Ala569Thr chr6 33054096 33054099 VAR_041911 + P25440:p.Ala599Pro chr6 33055880 33055883 VAR_041912 + P25440:p.Pro714Leu chr5 137528562 137528565 VAR_030695 - Q9H0E9:p.Thr490Met chr5 939741 939744 VAR_033635 - Q9H8M2:p.Ala170Thr chr5 931573 931576 VAR_033636 - Q9H8M2:p.Ala293Thr chr1 92140335 92140338 VAR_041924 + Q58F21:p.Ser2Phe chr1 92140347 92140350 VAR_041925 + Q58F21:p.Arg6Gln chr1 92142276 92142279 VAR_041926 + Q58F21:p.Ala89Val chr1 92154713 92154716 VAR_026585 + Q58F21:p.Lys238Asn chr1 92154863 92154866 VAR_041927 + Q58F21:p.His288Tyr chr1 92155844 92155847 VAR_041928 + Q58F21:p.Glu357Lys chr1 92157275 92157278 VAR_026586 + Q58F21:p.Asn410Lys chr1 92158629 92158632 VAR_041929 + Q58F21:p.Pro542Ala chr7 97565194 97565197 VAR_033516 + O95415:p.Thr123Ala chr3 9763025 9763028 VAR_028232 + P55201:p.Gly1117Glu chrX 135295949 135295952 VAR_011844 + P32247:p.Thr53Pro chrX 135297860 135297863 VAR_011845 + P32247:p.Leu162Gln chr21 39592327 39592330 VAR_026435 - Q9NSI6:p.Gln83Glu chr21 39496172 39496175 VAR_026436 - Q9NSI6:p.Ser1511Pro chr1 55176901 55176904 VAR_019783 + Q8WZ55:p.Arg8Leu chr1 55176901 55176904 VAR_019784 + Q8WZ55:p.Arg8Trp chr1 55176907 55176910 VAR_019785 + Q8WZ55:p.Gly10Ser chr1 55177018 55177021 VAR_019786 + Q8WZ55:p.Gly47Arg chr9 113211643 113211646 VAR_026882 + Q5W0U4:p.Gln293His chr9 113211886 113211889 VAR_026883 + Q5W0U4:p.Thr374Ile chr4 15383446 15383449 VAR_028438 + Q10588:p.Ala77Val chr4 15383518 15383521 VAR_028439 + Q10588:p.Ile101Val chr4 15385459 15385462 VAR_021964 + Q10588:p.Arg125His chr4 15385519 15385522 VAR_021965 + Q10588:p.Arg145Gln chr19 17375617 17375620 VAR_012067 - Q10589:p.Val143Phe chr6 26516113 26516116 VAR_021170 + O00481:p.Ser224Asn chr6 26521722 26521725 VAR_028788 + O00481:p.Pro456Thr chr6 26478635 26478638 VAR_026211 + P78410:p.Asn181Asp chr1 92280108 92280111 VAR_033637 + Q5XKL5:p.Lys136Arg chr11 13397731 13397734 VAR_033638 - Q9BSF8:p.Thr145Ala chr10 124079024 124079027 VAR_027070 + Q32M84:p.Arg318Gln chr10 124079063 124079066 VAR_027071 + Q32M84:p.Gly331Asp chr10 124086049 124086052 VAR_027072 + Q32M84:p.His439Pro chr10 124086148 124086151 VAR_027073 + Q32M84:p.Gln472Arg chr4 76076693 76076696 VAR_029307 - P35070:p.Cys7Gly chr4 76033017 76033020 VAR_029308 - P35070:p.Leu124Met chr3 15660988 15660991 VAR_005115 + P43251:p.Asp208Tyr chr3 15661273 15661276 VAR_005116 + P43251:p.His303Arg chr12 91040422 91040425 VAR_021345 - P62324:p.Asn139Ser chr12 91040416 91040419 VAR_021346 - P62324:p.Gln141Glu chrX 100436384 100436387 VAR_006216 - Q06187:p.Leu11Pro chrX 100436381 100436384 VAR_006217 - Q06187:p.Lys12Arg chrX 100436375 100436378 VAR_006218 - Q06187:p.Ser14Phe chrX 100436360 100436363 VAR_008291 - Q06187:p.Lys19Glu chrX 100436342 100436345 VAR_006219 - Q06187:p.Phe25Ser chrX 100436336 100436339 VAR_008292 - Q06187:p.Lys27Arg chrX 100436333 100436336 VAR_008293 - Q06187:p.Arg28Cys chrX 100436333 100436336 VAR_006220 - Q06187:p.Arg28His chrX 100436333 100436336 VAR_006221 - Q06187:p.Arg28Pro chrX 100436318 100436321 VAR_006222 - Q06187:p.Thr33Pro chrX 100436300 100436303 VAR_008960 - Q06187:p.Tyr39Ser chrX 100436297 100436300 VAR_008294 - Q06187:p.Tyr40Cys chrX 100436297 100436300 VAR_008295 - Q06187:p.Tyr40Asn chrX 100435725 100435728 VAR_008296 - Q06187:p.Ile61Asn chrX 100435716 100435719 VAR_008297 - Q06187:p.Val64Asp chrX 100435716 100435719 VAR_006223 - Q06187:p.Val64Phe chrX 100432828 100432831 VAR_041676 - Q06187:p.Arg82Lys chrX 100432765 100432768 VAR_006224 - Q06187:p.Gln103Gln chrX 100431182 100431185 VAR_006225 - Q06187:p.Val113Asp chrX 100431176 100431179 VAR_008298 - Q06187:p.Ser115Phe chrX 100431170 100431173 VAR_008299 - Q06187:p.Thr117Pro chrX 100431140 100431143 VAR_008300 - Q06187:p.Gln127His chrX 100423751 100423754 VAR_008301 - Q06187:p.Cys154Ser chrX 100423748 100423751 VAR_008302 - Q06187:p.Cys155Gly chrX 100423748 100423751 VAR_008303 - Q06187:p.Cys155Arg chrX 100423341 100423344 VAR_008304 - Q06187:p.Thr184Pro chrX 100423323 100423326 VAR_041677 - Q06187:p.Pro190Lys chrX 100420455 100420458 VAR_008305 - Q06187:p.Arg288Gln chrX 100420455 100420458 VAR_006227 - Q06187:p.Arg288Trp chrX 100420434 100420437 VAR_006228 - Q06187:p.Leu295Pro chrX 100419817 100419820 VAR_006230 - Q06187:p.Gly302Glu chrX 100419817 100419820 VAR_008306 - Q06187:p.Gly302Arg chrX 100419817 100419820 VAR_006229 - Q06187:p.302del chrX 100419802 100419805 VAR_006231 - Q06187:p.Arg307Gly chrX 100419802 100419805 VAR_008307 - Q06187:p.Arg307Thr chrX 100419799 100419802 VAR_008308 - Q06187:p.Asp308Glu chrX 100419766 100419769 VAR_008309 - Q06187:p.Val319Ala chrX 100419542 100419545 VAR_006232 - Q06187:p.Tyr334Ser chrX 100419470 100419473 VAR_006233 - Q06187:p.Leu358Phe chrX 100419461 100419464 VAR_006234 - Q06187:p.Tyr361Cys chrX 100419458 100419461 VAR_006235 - Q06187:p.His362Gln chrX 100419452 100419455 VAR_006236 - Q06187:p.His364Pro chrX 100419449 100419452 VAR_006237 - Q06187:p.Asn365Tyr chrX 100419446 100419449 VAR_008310 - Q06187:p.Ser366Phe chrX 100418711 100418714 VAR_008311 - Q06187:p.Leu369Phe chrX 100418708 100418711 VAR_006238 - Q06187:p.Ile370Met chrX 100418702 100418705 VAR_008312 - Q06187:p.Arg372Gly chrX 100418041 100418044 VAR_006239 - Q06187:p.Leu408Pro chrX 100418023 100418026 VAR_008313 - Q06187:p.Gly414Arg chrX 100418011 100418014 VAR_006240 - Q06187:p.Tyr418His chrX 100417978 100417981 VAR_006241 - Q06187:p.Ile429Asn chrX 100417975 100417978 VAR_006242 - Q06187:p.Lys430Glu chrX 100417975 100417978 VAR_008314 - Q06187:p.Lys430Arg chrX 100417930 100417933 VAR_008315 - Q06187:p.Glu445Asp chrX 100417364 100417367 VAR_008316 - Q06187:p.Gly462Asp chrX 100417364 100417367 VAR_008317 - Q06187:p.Gly462Val chrX 100417322 100417325 VAR_006243 - Q06187:p.Tyr476Asp chrX 100417319 100417322 VAR_006244 - Q06187:p.Met477Arg chrX 100417244 100417247 VAR_006245 - Q06187:p.Cys502Phe chrX 100417244 100417247 VAR_006246 - Q06187:p.Cys502Trp chrX 100417232 100417235 VAR_006247 - Q06187:p.Cys506Arg chrX 100417232 100417235 VAR_006248 - Q06187:p.Cys506Tyr chrX 100417226 100417229 VAR_008318 - Q06187:p.Ala508Asp chrX 100417223 100417226 VAR_008319 - Q06187:p.Met509Ile chrX 100417223 100417226 VAR_006249 - Q06187:p.Met509Val chrX 100417214 100417217 VAR_008961 - Q06187:p.Leu512Pro chrX 100417214 100417217 VAR_008962 - Q06187:p.Leu512Gln chrX 100417196 100417199 VAR_008320 - Q06187:p.Leu518Arg chrX 100417190 100417193 VAR_006251 - Q06187:p.Arg520Gln chrX 100417187 100417190 VAR_008321 - Q06187:p.Asp521Gly chrX 100417187 100417190 VAR_006252 - Q06187:p.Asp521His chrX 100417187 100417190 VAR_006253 - Q06187:p.Asp521Asn chrX 100415824 100415827 VAR_008322 - Q06187:p.Ala523Glu chrX 100415818 100415821 VAR_008323 - Q06187:p.Arg525Gly chrX 100415818 100415821 VAR_006254 - Q06187:p.Arg525Pro chrX 100415818 100415821 VAR_006255 - Q06187:p.Arg525Gln chrX 100415815 100415818 VAR_006256 - Q06187:p.Asn526Lys chrX 100415788 100415791 VAR_008324 - Q06187:p.Val535Phe chrX 100415767 100415770 VAR_006257 - Q06187:p.Leu542Pro chrX 100415075 100415078 VAR_008325 - Q06187:p.Phe559Ser chrX 100415066 100415069 VAR_006259 - Q06187:p.Arg562Pro chrX 100415066 100415069 VAR_006260 - Q06187:p.Arg562Trp chrX 100415063 100415066 VAR_008326 - Q06187:p.Trp563Leu chrX 100415051 100415054 VAR_006261 - Q06187:p.Glu567Lys chrX 100415018 100415021 VAR_008964 - Q06187:p.Ser578Tyr chrX 100415009 100415012 VAR_006262 - Q06187:p.Trp581Arg chrX 100415006 100415009 VAR_006263 - Q06187:p.Ala582Val chrX 100415003 100415006 VAR_008327 - Q06187:p.Phe583Ser chrX 100414473 100414476 VAR_006264 - Q06187:p.Met587Leu chrX 100414467 100414470 VAR_008328 - Q06187:p.Glu589Asp chrX 100414467 100414470 VAR_006265 - Q06187:p.Glu589Gly chrX 100414467 100414470 VAR_008965 - Q06187:p.Glu589Lys chrX 100414458 100414461 VAR_006267 - Q06187:p.Ser592Pro chrX 100414452 100414455 VAR_006268 - Q06187:p.Gly594Glu chrX 100414452 100414455 VAR_006269 - Q06187:p.Gly594Arg chrX 100414440 100414443 VAR_006270 - Q06187:p.Tyr598Cys chrX 100414413 100414416 VAR_006271 - Q06187:p.Ala607Asp chrX 100414395 100414398 VAR_006272 - Q06187:p.Gly613Asp chrX 100414377 100414380 VAR_008330 - Q06187:p.Pro619Ala chrX 100414377 100414380 VAR_006273 - Q06187:p.Pro619Ser chrX 100414377 100414380 VAR_008331 - Q06187:p.Pro619Thr chrX 100414368 100414371 VAR_008332 - Q06187:p.Ala622Pro chrX 100414356 100414359 VAR_008333 - Q06187:p.Val626Gly chrX 100414344 100414347 VAR_006274 - Q06187:p.Met630Ile chrX 100414344 100414347 VAR_006275 - Q06187:p.Met630Lys chrX 100414344 100414347 VAR_008334 - Q06187:p.Met630Thr chrX 100414335 100414338 VAR_006276 - Q06187:p.Cys633Tyr chrX 100411074 100411077 VAR_006277 - Q06187:p.Arg641Cys chrX 100411074 100411077 VAR_006278 - Q06187:p.Arg641His chrX 100411065 100411068 VAR_008335 - Q06187:p.Phe644Leu chrX 100411065 100411068 VAR_006279 - Q06187:p.Phe644Ser chrX 100411056 100411059 VAR_006280 - Q06187:p.Leu647Pro chrX 100411041 100411044 VAR_006281 - Q06187:p.Leu652Pro chr6 32480838 32480841 VAR_033602 - Q9UIR0:p.Trp94Arg chr6 32478810 32478813 VAR_021171 - Q9UIR0:p.Lys196Glu chr6 32472022 32472025 VAR_033603 - Q9UIR0:p.Asp283Val chr6 32471869 32471872 VAR_029128 - Q9UIR0:p.Ser334Leu chr6 32471815 32471818 VAR_033604 - Q9UIR0:p.Ala352Thr chr6 32470721 32470724 VAR_033605 - Q9UIR0:p.Pro379Leu chr6 32470718 32470721 VAR_033606 - Q9UIR0:p.Met380Ile chr6 32470679 32470682 VAR_033607 - Q9UIR0:p.Pro393Gln chr15 38244552 38244555 VAR_008852 + O60566:p.Met15Thr chr15 38244615 38244618 VAR_028921 + O60566:p.Arg36Gln chr15 38244627 38244630 VAR_040402 + O60566:p.Thr40Met chr15 38265121 38265124 VAR_008853 + O60566:p.Arg349Gln chr15 38276146 38276149 VAR_028922 + O60566:p.Glu390Asp chr15 38282100 38282103 VAR_028923 + O60566:p.Arg550Gln chr15 38285793 38285796 VAR_008854 + O60566:p.Val618Ala chr15 38292045 38292048 VAR_028924 + O60566:p.Arg814His chr15 38292135 38292138 VAR_028925 + O60566:p.Leu844Phe chr15 38297034 38297037 VAR_028926 + O60566:p.Ile909Thr chr15 38297070 38297073 VAR_028927 + O60566:p.Gln921His chr15 38300132 38300135 VAR_028928 + O60566:p.Leu1012Pro chr2 111148139 111148142 VAR_040400 - O43683:p.Gly20Asp chr2 111148010 111148013 VAR_008849 - O43683:p.Glu36Asp chr2 111141356 111141359 VAR_015687 - O43683:p.Tyr259Cys chr2 111141338 111141341 VAR_015688 - O43683:p.His265Asn chr2 111132259 111132262 VAR_008850 - O43683:p.Ser492Tyr chr2 111131369 111131372 VAR_040401 - O43683:p.Asn534Asp chr2 111127265 111127268 VAR_008851 - O43683:p.Pro648Arg chr11 116139154 116139157 VAR_032343 - Q9BRD0:p.Arg120Cys chr11 116139070 116139073 VAR_032344 - Q9BRD0:p.Pro148Leu chr11 116138788 116138791 VAR_032345 - Q9BRD0:p.Arg242Ile chr22 23220776 23220779 VAR_026752 + Q9UBR1:p.Ala85Glu chr6 111412998 111413001 VAR_033639 + Q9H7B2:p.Ala41Gly chr6 111416944 111416947 VAR_033640 + Q9H7B2:p.Gly60Ser chr1 143193187 143193190 VAR_027747 - O95971:p.Ile91Val chr6 42003127 42003130 VAR_033641 + Q13895:p.Glu103Lys chr18 64692984 64692987 VAR_022893 + Q68D86:p.Cys346Phe chr18 64829171 64829174 VAR_022894 + Q68D86:p.Ala429Pro chr8 143996171 143996174 VAR_014151 - P19099:p.Ala29Thr chr8 143996168 143996171 VAR_014152 - P19099:p.Arg30Gln chr8 143993638 143993641 VAR_018470 - P19099:p.Asn140Asn chr8 143993539 143993542 VAR_001266 - P19099:p.Lys173Arg chr8 143993515 143993518 VAR_001267 - P19099:p.Arg181Trp chr8 143993503 143993506 VAR_018471 - P19099:p.Thr185Ile chr8 143993464 143993467 VAR_001268 - P19099:p.Glu198Asp chr8 143993255 143993258 VAR_014643 - P19099:p.Asn222Thr chr8 143993177 143993180 VAR_014153 - P19099:p.Ile248Thr chr8 143992792 143992795 VAR_014154 - P19099:p.Asn281Ser chr8 143991806 143991809 VAR_014155 - P19099:p.Ile339Thr chr8 143991275 143991278 VAR_014644 - P19099:p.Glu383Val chr8 143991266 143991269 VAR_001269 - P19099:p.Val386Ala chr8 143991136 143991139 VAR_014645 - P19099:p.Val403Glu chr8 143991040 143991043 VAR_014156 - P19099:p.Gly435Ser chr8 143990962 143990965 VAR_018472 - P19099:p.Leu461Pro chr8 143990448 143990451 VAR_014646 - P19099:p.Phe487Val chr8 143990415 143990418 VAR_018473 - P19099:p.Thr498Ala chrX 119542510 119542513 VAR_031910 - Q96EU7:p.Asp131Glu chrX 119542447 119542450 VAR_031911 - Q96EU7:p.Glu152Lys chr1 22709481 22709484 VAR_021090 + P02745:p.Glu23Lys chr1 22715921 22715924 VAR_008542 + P02747:p.Gly34Arg chr20 23014169 23014172 VAR_036400 - Q9NPY3:p.Ala220Val chr20 23013875 23013878 VAR_013573 - Q9NPY3:p.Val318Ala chr11 118716185 118716188 VAR_032628 - Q9BXJ0:p.Gln44Arg chr11 118715493 118715496 VAR_032629 - Q9BXJ0:p.Ser163Arg chr13 23793558 23793561 VAR_032840 + Q5VX65:p.Met219Val chr13 23793804 23793807 VAR_032841 + Q5VX65:p.Val301Met chr12 7040595 7040598 VAR_033643 + P09871:p.Arg119His chr12 7044189 7044192 VAR_033644 + P09871:p.Val327Leu chr12 7045287 7045290 VAR_014565 + P09871:p.Arg383His chr14 63962221 63962224 VAR_010241 + P11586:p.Arg293His chr14 63978596 63978599 VAR_010251 + P11586:p.Arg653Gln chr14 63985916 63985919 VAR_032789 + P11586:p.Thr761Met chr14 63985940 63985943 VAR_032790 + P11586:p.Leu769Phe chr11 73492084 73492087 VAR_037181 - Q4AC94:p.Pro773Arg chr11 73484089 73484092 VAR_037182 - Q4AC94:p.Arg997Gln chr11 73474329 73474332 VAR_037184 - Q4AC94:p.Tyr1297Cys chr11 73446199 73446202 VAR_037185 - Q4AC94:p.Ser1663Asn chr11 73436899 73436902 VAR_037186 - Q4AC94:p.Gly1831Trp chr19 13890626 13890629 VAR_026670 + Q6P1N0:p.Thr339Pro chr19 13895586 13895589 VAR_026671 + Q6P1N0:p.Thr635Ser chr19 13899789 13899792 VAR_026672 + Q6P1N0:p.Thr801Met chr16 10896719 10896722 VAR_029270 + P33076:p.Leu45Val chr16 10900089 10900090 VAR_005127 + P33076:p.Lys120Ile chr16 10900282 10900284 VAR_005127 + P33076:p.Lys120Ile chr16 10908254 10908257 VAR_015551 + P33076:p.Leu469Pro chr16 10908821 10908824 VAR_015552 + P33076:p.Ala658Gly chr16 10911612 10911615 VAR_015553 + P33076:p.Phe962Ser chr16 10916928 10917728 VAR_015554 + P33076:p.964_991del chr16 10919813 10919816 VAR_015555 + P33076:p.1027del chr12 8103640 8103643 VAR_019164 - Q16581:p.Val136Ala chr5 74837592 74837595 VAR_035416 - Q9Y5P4:p.Gly67Glu chr1 203693293 203693296 VAR_024420 + P04003:p.Ile300Thr chr1 203693464 203693467 VAR_001978 + P04003:p.Tyr357His chr1 203702988 203702991 VAR_012038 + P04003:p.Trp473Leu chr1 203653454 203653457 VAR_038734 + P20851:p.Lys102Gln chr1 203659977 203659980 VAR_012039 + P20851:p.Pro198Ser chr1 181875377 181875380 VAR_027652 + Q5T5J6:p.Ile148Val chr1 181903524 181903527 VAR_027653 + Q5T5J6:p.His536Arg chr1 181907491 181907494 VAR_027654 + Q5T5J6:p.Leu638Phe chr1 181972130 181972133 VAR_027655 + Q5T5J6:p.Asn821Asp chr1 175216653 175216656 VAR_027656 + Q5T0J7:p.Glu55Gly chr1 175221558 175221561 VAR_027657 + Q5T0J7:p.Ala146Gly chr1 175221633 175221636 VAR_027658 + Q5T0J7:p.Leu171Arg chr1 108909390 108909393 VAR_035017 - Q5T8I9:p.Thr129Ala chr1 108904940 108904943 VAR_035018 - Q5T8I9:p.Arg230Gln chr1 108903328 108903331 VAR_035019 - Q5T8I9:p.Met361Ile chr1 16077790 16077793 VAR_035491 + Q8NEQ6:p.Gly52Trp chr1 16077934 16077937 VAR_035492 + Q8NEQ6:p.Gly100Trp chr1 16077970 16077973 VAR_033654 + Q8NEQ6:p.Leu112Phe chr1 219939178 219939181 VAR_027066 + Q8N715:p.Val195Ala chr1 219939586 219939589 VAR_027068 + Q8N715:p.Arg331Trp chr1 224669416 224669419 VAR_030794 + Q5T440:p.Gly211Ser chr1 153077718 153077721 VAR_031742 - Q8WWB7:p.Val94Ile chr1 153077070 153077073 VAR_031743 - Q8WWB7:p.Pro203Ser chr1 153077010 153077013 VAR_031744 - Q8WWB7:p.Ile223Val chr1 60218713 60218716 VAR_035493 - Q8N0U7:p.Gln151Glu chr1 60217801 60217804 VAR_031745 - Q8N0U7:p.Leu185Val chr1 60211294 60211297 VAR_031746 - Q8N0U7:p.Asn301Asp chr1 60178832 60178835 VAR_031747 - Q8N0U7:p.Lys403Glu chr1 60178823 60178826 VAR_031748 - Q8N0U7:p.Ala406Pro chr1 34332300 34332303 VAR_031051 + Q6P1W5:p.Gln45Glu chr1 34332501 34332504 VAR_031052 + Q6P1W5:p.Asp112Glu chr1 240967255 240967258 VAR_027661 + Q5SY80:p.Thr66Lys chr1 241071144 241071147 VAR_035494 + Q5SY80:p.Thr653Ile chr1 111204586 111204589 VAR_027599 - Q5T3J3:p.Ser599Pro chr1 111203009 111203012 VAR_027600 - Q5T3J3:p.Ile641Met chr1 169162989 169162992 VAR_027710 + O95561:p.Met97Val chr1 169169247 169169250 VAR_027711 + O95561:p.Ser137Asn chr1 159075630 159075633 VAR_030905 - Q5T0L3:p.Arg217His chr1 166531537 166531540 VAR_030906 + Q9NSG2:p.Ala481Ser chr1 166122810 166122813 VAR_030907 - Q5TID7:p.Phe172Ser chr1 179108734 179108737 VAR_029634 + Q5T9Y9:p.Asn13Asp chr1 37943379 37943382 VAR_028834 + Q6ZSJ8:p.Pro39Gln chr1 176192461 176192464 VAR_031841 + Q5T1B0:p.Ala742Val chr1 176235693 176235696 VAR_031842 + Q5T1B0:p.Glu991Gln chr1 167659271 167659274 VAR_031903 + Q5TGP6:p.Asn29Ser chr1 167660327 167660330 VAR_031904 + Q5TGP6:p.Val74Ala chr1 167666051 167666054 VAR_031905 + Q5TGP6:p.Tyr160His chr1 25846457 25846460 VAR_031776 - Q9H7T9:p.Lys82Thr chr1 67293146 67293149 VAR_033186 - Q5JVX7:p.Glu85Gly chr1 67272974 67272977 VAR_033187 - Q5JVX7:p.Val189Ile chr1 203054289 203054292 VAR_027074 - Q96MC9:p.Gly213Ala chr1 203054229 203054232 VAR_027075 - Q96MC9:p.Pro233Ser chr1 203054151 203054154 VAR_027076 - Q96MC9:p.Thr259Met chr1 166494464 166494467 VAR_027087 - O95568:p.Glu10Asp chr1 166493519 166493522 VAR_027088 - O95568:p.Ala325Val chr1 166493414 166493417 VAR_027089 - O95568:p.Lys360Met chr1 12755135 12755138 VAR_027091 + Q8N1D5:p.Phe191Leu chr1 111730698 111730701 VAR_035106 + Q8NEQ5:p.Gly3Ser chr1 56970131 56970134 VAR_035041 - Q5VWT5:p.Ile125Met chr1 74809444 74809447 VAR_035131 - Q5RHP9:p.Pro264Ala chr1 74777460 74777463 VAR_035132 - Q5RHP9:p.Arg555His chr1 74767603 74767606 VAR_035133 - Q5RHP9:p.Ile636Val chr1 74767438 74767441 VAR_035134 - Q5RHP9:p.His691Arg chr1 74750246 74750249 VAR_035135 - Q5RHP9:p.Leu1056Val chr1 74748830 74748833 VAR_035136 - Q5RHP9:p.Val1528Met chr1 54831163 54831166 VAR_032218 + Q68CQ1:p.His182Arg chr1 54831166 54831169 VAR_035495 + Q68CQ1:p.Ser183Tyr chr1 54831487 54831490 VAR_032219 + Q68CQ1:p.Val290Met chr1 54831535 54831538 VAR_032220 + Q68CQ1:p.Tyr306Asp chr1 54831553 54831556 VAR_032221 + Q68CQ1:p.Ser312Phe chr1 54831565 54831568 VAR_032222 + Q68CQ1:p.Glu316Gly chr1 54831673 54831676 VAR_032223 + Q68CQ1:p.Thr352Met chr1 40649651 40649654 VAR_035407 + Q9H790:p.Asp115Asn chr1 40649822 40649825 VAR_035408 + Q9H790:p.Gly172Val chr1 54985600 54985603 VAR_034645 + Q3ZCV2:p.Gly126Cys chr1 84808401 84808404 VAR_029856 - Q8NAE3:p.Phe96Val chr1 85885961 85885964 VAR_031096 - Q9NWK9:p.Gly9Arg chr1 85835557 85835560 VAR_035721 - Q9NWK9:p.Leu455His chr1 11700689 11700692 VAR_030114 + Q8NBI3:p.Leu37Phe chr1 24432812 24432815 VAR_035614 - Q5TH74:p.Ser254Phe chr1 43417854 43417857 VAR_033655 - Q8IVY1:p.Ser12Leu chr1 25895614 25895617 VAR_035139 - Q14CA7:p.Val111Ile chr1 25895533 25895536 VAR_035140 - Q14CA7:p.Gln138His chr1 25895347 25895350 VAR_035141 - Q14CA7:p.Phe200Ser chr3 50406594 50406597 VAR_035048 - Q9NY47:p.Ala138Val chr1 1199153 1199156 VAR_035461 - Q9BRK5:p.Ala148Thr chr20 60399711 60399714 VAR_026532 - Q9BTV7:p.Thr428Lys chr11 66980237 66980240 VAR_029375 + P57796:p.Arg124Cys chr19 53235716 53235719 VAR_033695 - Q9NP86:p.Thr65Arg chr19 53229395 53229398 VAR_020020 - Q9NP86:p.Val128Ala chr18 19989682 19989685 VAR_030040 + O75952:p.Thr74Met chr18 19990804 19990807 VAR_030041 + O75952:p.Lys448Arg chr18 19990930 19990933 VAR_023818 + O75952:p.Ser490Ala chr3 53504236 53504239 VAR_001497 + Q01668:p.Met1Met chr16 1209002 1209005 VAR_033698 + O95180:p.Glu1974Gly chr22 38382685 38382688 VAR_013883 + Q9P0X4:p.Ile1040Val chr22 38399899 38399902 VAR_013884 + Q9P0X4:p.Gly1782Ala chr22 38399899 38399902 VAR_020050 + Q9P0X4:p.Gly1782Arg chr17 34593524 34593527 VAR_036349 - Q02641:p.Pro339Leu chr10 18730939 18730942 VAR_036350 + Q08289:p.Ala99Gly chr10 18868278 18868281 VAR_044041 + Q08289:p.Ser535Leu chr12 47507760 47507763 VAR_024384 + P54284:p.Arg423His chr17 44281612 44281615 VAR_037489 + Q13137:p.Gly140Glu chr17 44283965 44283968 VAR_037490 + Q13137:p.Gly227Arg chr17 44284905 44284908 VAR_037491 + Q13137:p.Val248Ala chr17 44284980 44284983 VAR_037492 + Q13137:p.Thr273Ala chr17 44294656 44294659 VAR_037493 + Q13137:p.Pro389Ala chr5 24545574 24545577 VAR_036102 - Q9Y6N8:p.Val371Leu chr5 24545448 24545451 VAR_028751 - Q9Y6N8:p.Ser413Phe chr16 81623318 81623321 VAR_030632 + P55290:p.Leu121Ser chr16 65504933 65504936 VAR_021870 - O75309:p.Leu191Phe chr16 67393276 67393279 VAR_001306 + P12830:p.His123Tyr chr16 67400141 67400144 VAR_001307 + P12830:p.Thr193Pro chr16 67401642 67401645 VAR_008712 + P12830:p.Asp244Gly chr16 67401720 67401723 VAR_013970 + P12830:p.Ser270Ala chr16 67401732 67401744 VAR_001308 + P12830:p.274_277del chr16 67403098 67403101 VAR_033026 + P12830:p.Met282Ile chr16 67403197 67403200 VAR_001309 + P12830:p.Asn315Ser chr16 67403260 67403263 VAR_001310 + P12830:p.Glu336Asp chr16 67403547 67403550 VAR_013971 + P12830:p.Thr340Ala chr16 67403637 67403640 VAR_001311 + P12830:p.Asp370Ala chr16 67404776 67404779 VAR_001312 + P12830:p.400del chr16 67404830 67404848 VAR_001313 + P12830:p.418_423del chr16 67406984 67406987 VAR_001314 + P12830:p.Glu463Gln chr16 67407005 67407008 VAR_001315 + P12830:p.Thr470Ile chr16 67407014 67407017 VAR_001317 + P12830:p.Val473Asp chr16 67407029 67407032 VAR_023357 + P12830:p.Leu478Pro chr16 67407056 67407059 VAR_008713 + P12830:p.Val487Ala chr16 67413466 67413469 VAR_001318 + P12830:p.Ala592Thr chr16 67413484 67413487 VAR_001319 + P12830:p.Arg598Gln chr16 67413541 67413544 VAR_001320 + P12830:p.Ala617Thr chr16 67413580 67413583 VAR_021868 + P12830:p.Leu630Val chr16 67414948 67414951 VAR_021869 + P12830:p.Cys695Arg chr16 67414996 67414999 VAR_001321 + P12830:p.Leu711Val chr16 67421090 67421093 VAR_033027 + P12830:p.Asp777Asn chr16 67424747 67424750 VAR_023358 + P12830:p.Val832Met chr16 67424765 67424768 VAR_001322 + P12830:p.Ser838Gly chr16 67424891 67424894 VAR_023359 + P12830:p.Glu880Lys chr18 23981743 23981746 VAR_028254 - P19022:p.Ala21Thr chr18 23847689 23847692 VAR_028255 - P19022:p.Ala118Thr chr18 23843792 23843795 VAR_028256 - P19022:p.Ser196Thr chr18 23843744 23843747 VAR_028257 - P19022:p.Ile212Leu chr18 23786300 23786303 VAR_028258 - P19022:p.Asn845Ser chr16 67271219 67271222 VAR_031929 + P22223:p.Val237Met chr16 67272467 67272470 VAR_033010 + P22223:p.Asn322Ile chr16 67276612 67276615 VAR_031930 + P22223:p.Arg477His chr16 67276690 67276693 VAR_015422 + P22223:p.Arg503His chr16 67279031 67279034 VAR_031931 + P22223:p.Gln563His chr16 64989880 64989883 VAR_028003 + P33151:p.Ile503Thr chr5 27024179 27024182 VAR_029799 - Q9ULB4:p.Tyr6Cys chr5 27024083 27024086 VAR_029800 - Q9ULB4:p.Ala38Val chr19 48821982 48821985 VAR_032906 - Q8NFZ8:p.Thr225Ala chr8 86437763 86437766 VAR_001378 - P00915:p.His68Arg chr8 86428064 86428067 VAR_001379 - P00915:p.Gly254Arg chr8 86564769 86564772 VAR_001380 + P00918:p.Lys18Glu chr8 86573214 86573217 VAR_001381 + P00918:p.Gln92Pro chr8 86573220 86573223 VAR_021009 + P00918:p.His94Tyr chr8 86573259 86573262 VAR_001382 + P00918:p.His107Tyr chr8 86573882 86573885 VAR_021010 + P00918:p.Gly144Arg chr8 86580192 86580195 VAR_001383 + P00918:p.Pro236His chr8 86580240 86580243 VAR_001384 + P00918:p.Asn252Asp chr8 86539248 86539251 VAR_016180 + P07451:p.Val31Ile chr17 55582216 55582219 VAR_024749 + P22748:p.Arg14Trp chr17 55590499 55590502 VAR_024750 + P22748:p.Arg219Ser chr1 8943616 8943619 VAR_033712 + P23280:p.Gln37Leu chr1 8943670 8943673 VAR_028268 + P23280:p.Thr55Met chr1 8943709 8943712 VAR_028269 + P23280:p.Met68Leu chr1 8943715 8943718 VAR_028270 + P23280:p.Gly70Ala chr1 8951469 8951472 VAR_028271 + P23280:p.Ser90Gly chr11 14949308 14949311 VAR_025271 - P01258:p.Gly2Arg chr11 14948082 14948085 VAR_025272 - P01258:p.Glu67Lys chr11 14946977 14946980 VAR_025273 - P01258:p.Ser123Thr chr11 14946932 14946935 VAR_025274 - P01258:p.Gln138Pro chr19 16467916 16467919 VAR_027944 - Q96L12:p.Leu8Phe chr19 16454530 16454533 VAR_027945 - Q96L12:p.Asp248Gly chr19 16454356 16454359 VAR_027946 - Q96L12:p.Val274Ile chr7 127982597 127982600 VAR_022051 + O43852:p.Arg4Gln chr3 49874588 49874591 VAR_041337 - Q8NCB2:p.Arg40Trp chr3 49874528 49874531 VAR_041338 - Q8NCB2:p.Gly60Ser chr3 49872939 49872942 VAR_041339 - Q8NCB2:p.Arg274Trp chr3 49872924 49872927 VAR_041340 - Q8NCB2:p.Glu279Asp chr3 49871844 49871847 VAR_041341 - Q8NCB2:p.Pro472Leu chr3 49871787 49871790 VAR_027539 - Q8NCB2:p.Tyr491Cys chr5 134104710 134104713 VAR_024297 + P49069:p.Val78Ile chr2 241251466 241251469 VAR_014437 + Q9HC96:p.Pro200Thr chr2 241251472 241251475 VAR_014438 + Q9HC96:p.Arg202His chr2 241253449 241253452 VAR_036049 + Q9HC96:p.Glu276Gly chr2 241254453 241254456 VAR_014439 + Q9HC96:p.Ala341Val chr2 241256115 241256118 VAR_014440 + Q9HC96:p.Thr504Ala chr2 241256190 241256193 VAR_014441 + Q9HC96:p.Ala529Ser chr2 241257387 241257390 VAR_014442 + Q9HC96:p.Ser613Asn chr6 44249065 44249068 VAR_033713 + Q9UMQ6:p.Val229Met chr6 44253039 44253042 VAR_033714 + Q9UMQ6:p.Val404Ala chr6 44255798 44255801 VAR_033715 + Q9UMQ6:p.Ile484Val chr6 44255867 44255870 VAR_033716 + Q9UMQ6:p.Ser507Arg chr6 44259466 44259469 VAR_024587 + Q9UMQ6:p.Ser691Asn chr2 30897625 30897628 VAR_028964 - Q6MZZ7:p.His249Tyr chr2 30892588 30892591 VAR_028965 - Q6MZZ7:p.Ala280Thr chr2 30868975 30868978 VAR_028966 - Q6MZZ7:p.Ile596Thr chr11 64707213 64707216 VAR_021085 + P07384:p.Thr103Ala chr11 64728860 64728863 VAR_021086 + P07384:p.Arg433Pro chr11 64730629 64730632 VAR_021087 + P07384:p.Gly492Arg chr11 64734465 64734468 VAR_021088 + P07384:p.Val676Ile chr1 220207278 220207281 VAR_021404 + P17655:p.Ser68Gly chr1 220253814 220253817 VAR_021405 + P17655:p.Lys476Arg chr1 220256048 220256051 VAR_021406 + P17655:p.Glu521Gln chr1 220260814 220260817 VAR_014436 + P17655:p.Lys568Gln chr1 220266625 220266628 VAR_021407 + P17655:p.Lys677Gln chr15 40439304 40439307 VAR_009548 + P20807:p.Val4Ile chr15 40439355 40439358 VAR_022272 + P20807:p.Gly21Glu chr15 40439370 40439373 VAR_009549 + P20807:p.Pro26Leu chr15 40439523 40439526 VAR_009550 + P20807:p.Asp77Asn chr15 40439550 40439553 VAR_009551 + P20807:p.Ser86Phe chr15 40439571 40439595 VAR_009552 + P20807:p.93_100del chr15 40463981 40463984 VAR_009553 + P20807:p.Glu107Lys chr15 40464014 40464017 VAR_009554 + P20807:p.Arg118Gly chr15 40465685 40465688 VAR_009555 + P20807:p.Cys137Arg chr15 40465754 40465757 VAR_015389 + P20807:p.Ala160Gly chr15 40465760 40465763 VAR_009556 + P20807:p.Ile162Leu chr15 40467287 40467290 VAR_001363 + P20807:p.Leu182Gln chr15 40467290 40467293 VAR_009557 + P20807:p.Pro183Leu chr15 40467293 40467296 VAR_009558 + P20807:p.Thr184Met chr15 40467308 40467311 VAR_009559 + P20807:p.Leu189Pro chr15 40467341 40467356 VAR_001364 + P20807:p.200_204del chr15 40468424 40468427 VAR_009560 + P20807:p.Gly214Ser chr15 40468427 40468448 VAR_009562 + P20807:p.215_221del chr15 40468427 40468430 VAR_009561 + P20807:p.Ser215Pro chr15 40468433 40468436 VAR_009563 + P20807:p.Glu217Lys chr15 40468448 40468451 VAR_009564 + P20807:p.Gly222Arg chr15 40468460 40468463 VAR_009565 + P20807:p.Glu226Lys chr15 40468478 40468481 VAR_009566 + P20807:p.Thr232Ile chr15 40468484 40468487 VAR_001365 + P20807:p.Gly234Glu chr15 40468490 40468493 VAR_009567 + P20807:p.Ala236Thr chr15 40468544 40468547 VAR_009568 + P20807:p.254del chr15 40472137 40472140 VAR_009569 + P20807:p.Pro319Leu chr15 40472182 40472185 VAR_009570 + P20807:p.His334Gln chr15 40472188 40472191 VAR_009571 + P20807:p.Tyr336Asn chr15 40473775 40473778 VAR_001366 + P20807:p.Val354Gly chr15 40473793 40473796 VAR_009572 + P20807:p.Trp360Cys chr15 40479096 40479099 VAR_009573 + P20807:p.Arg437Cys chr15 40479105 40479108 VAR_009574 + P20807:p.Arg440Trp chr15 40479108 40479111 VAR_009575 + P20807:p.Gly441Asp chr15 40479120 40479123 VAR_009576 + P20807:p.Gly445Arg chr15 40479129 40479132 VAR_009577 + P20807:p.Arg448Cys chr15 40479129 40479132 VAR_009578 + P20807:p.Arg448Gly chr15 40479129 40479132 VAR_009579 + P20807:p.Arg448His chr15 40481210 40481213 VAR_009580 + P20807:p.Ser479Gly chr15 40481231 40481234 VAR_009581 + P20807:p.Gln486Glu chr15 40481240 40481243 VAR_009582 + P20807:p.Arg489Gln chr15 40481240 40481243 VAR_009583 + P20807:p.Arg489Trp chr15 40481243 40481246 VAR_009584 + P20807:p.Arg490Gln chr15 40481243 40481246 VAR_001367 + P20807:p.Arg490Trp chr15 40481252 40481255 VAR_009585 + P20807:p.Arg493Trp chr15 40481261 40481264 VAR_009586 + P20807:p.Gly496Arg chr15 40481279 40481282 VAR_009587 + P20807:p.Ile502Thr chr15 40482367 40482370 VAR_009588 + P20807:p.Arg541Gln chr15 40482445 40482448 VAR_009589 + P20807:p.Gly567Trp chr15 40482460 40482463 VAR_001368 + P20807:p.Arg572Gln chr15 40482460 40482463 VAR_009590 + P20807:p.Arg572Trp chr15 40487715 40487718 VAR_009591 + P20807:p.Ser606Leu chr15 40487811 40487814 VAR_009592 + P20807:p.Gln638Pro chr15 40489461 40489464 VAR_009593 + P20807:p.Arg698Pro chr15 40489473 40489476 VAR_009594 + P20807:p.Ala702Val chr15 40489482 40489485 VAR_009595 + P20807:p.Asp705Gly chr15 40489482 40489485 VAR_009596 + P20807:p.Asp705His chr15 40490083 40490086 VAR_009597 + P20807:p.Phe731Ser chr15 40490122 40490125 VAR_001369 + P20807:p.Ser744Gly chr15 40490134 40490137 VAR_009598 + P20807:p.Arg748Gln chr15 40490414 40490417 VAR_001370 + P20807:p.Arg769Gln chr15 40490429 40490432 VAR_009599 + P20807:p.His774Asp chr15 40490787 40490790 VAR_009600 + P20807:p.Ala798Glu chrX 110300983 110300986 VAR_021084 - Q9Y6Q1:p.Val277Leu chrX 110300373 110300376 VAR_036048 - Q9Y6Q1:p.Gly358Arg chr1 227202012 227202015 VAR_022188 + O14815:p.Ala102Val chr1 227202072 227202075 VAR_022189 + O14815:p.Ser122Arg chr1 227205220 227205223 VAR_022190 + O14815:p.Asp164Asn chr1 227210184 227210187 VAR_022191 + O14815:p.Ile234Thr chr1 227211669 227211672 VAR_022192 + O14815:p.Ala239Thr chr1 227214533 227214536 VAR_022193 + O14815:p.Arg277Trp chr1 227221463 227221466 VAR_022194 + O14815:p.Lys322Gln chr1 227221478 227221481 VAR_022195 + O14815:p.His327Gln chr1 227221523 227221526 VAR_022196 + O14815:p.Glu342Lys chr1 227223079 227223082 VAR_022197 + O14815:p.Arg458Trp chr1 227230047 227230050 VAR_022198 + O14815:p.Arg522Trp chr1 227235369 227235372 VAR_022199 + O14815:p.Met611Ile chr12 65986568 65986571 VAR_025327 + Q86VP6:p.Ala952Val chr1 40202379 40202382 VAR_028420 + Q01518:p.Cys236Gly chr1 40202406 40202409 VAR_028421 + Q01518:p.Ile245Ser chr1 40202412 40202415 VAR_028422 + Q01518:p.Cys247Gly chr1 40202418 40202421 VAR_028423 + Q01518:p.Tyr249Asp chr1 40202439 40202442 VAR_028424 + Q01518:p.Ser256Ala chr6 17649286 17649289 VAR_033717 + P40123:p.Thr311Ala chr6 17649301 17649304 VAR_033718 + P40123:p.Tyr316Cys chr19 782862 782865 VAR_006496 + P20160:p.248del chr12 30773073 30773076 VAR_034939 - Q6IMN6:p.Met519Val chr22 36230760 36230763 VAR_028116 - Q9BWT7:p.Arg289Gln chr7 2736117 2736120 VAR_028117 - Q9BXL7:p.Thr670Met chr17 75786536 75786539 VAR_024401 + Q9BXL6:p.Arg547Ser chr17 75794001 75794004 VAR_022043 + Q9BXL6:p.Arg883His chr5 71051483 71051486 VAR_012199 + Q16568:p.Leu61Phe chr5 71051498 71051501 VAR_012200 + Q16568:p.Ser66Thr chr15 38689744 38689747 VAR_026429 + Q8NG31:p.Thr70Ala chr15 38703528 38703531 VAR_026433 + Q8NG31:p.Lys1285Glu chr15 38704092 38704095 VAR_026434 + Q8NG31:p.Thr1473Ala chr7 93811746 93811749 VAR_035383 + Q96PB1:p.Arg386Ser chr4 71295609 71295612 VAR_026338 + P07498:p.Tyr75Cys chr4 71295714 71295717 VAR_026339 + P07498:p.Arg110Leu chr4 71295819 71295822 VAR_026340 + P07498:p.Ala145Thr chr6 11298356 11298359 VAR_021857 - Q14511:p.Thr577Met chr7 142508197 142508200 VAR_016334 + P42575:p.Val172Leu chr7 142508215 142508218 VAR_016335 + P42575:p.Pro178Ala chr7 142518962 142518965 VAR_016336 + P42575:p.Arg441Gly chr4 185927373 185927376 VAR_001401 - P42574:p.Glu190Asp chr11 104384837 104384840 VAR_024403 - P51878:p.Phe13Leu chr11 104379249 104379252 VAR_024404 - P51878:p.Arg152His chr11 104378030 104378033 VAR_024405 - P51878:p.Val201Leu chr4 110976506 110976509 VAR_029242 - P55212:p.Glu35Lys chr4 110973440 110973443 VAR_016130 - P55212:p.Ala109Thr chr4 110969706 110969709 VAR_020126 - P55212:p.Thr182Ser chr2 201965176 201965179 VAR_025816 + Q14790:p.Ser219Thr chr2 201967136 201967139 VAR_014204 + Q14790:p.Arg248Trp chr2 201975094 201975097 VAR_020127 + Q14790:p.Asp285His chr1 15595917 15595920 VAR_015415 - P55211:p.Ala28Val chr1 15590031 15590034 VAR_015416 - P55211:p.Ser99Leu chr1 15590022 15590025 VAR_015417 - P55211:p.Thr102Ile chr1 15590010 15590013 VAR_015418 - P55211:p.Leu106Val chr1 15589986 15589989 VAR_015419 - P55211:p.Glu114Asp chr1 15578810 15578813 VAR_015420 - P55211:p.Arg173His chr1 15578801 15578804 VAR_016131 - P55211:p.Gly176Arg chr1 15578774 15578777 VAR_022053 - P55211:p.Ile185Met chr1 15578753 15578756 VAR_016132 - P55211:p.Arg192Cys chr1 15577847 15577850 VAR_015421 - P55211:p.Gln221Arg chr2 201878025 201878028 VAR_037428 + Q92851:p.Met147Thr chr2 201898342 201898345 VAR_014071 + Q92851:p.Leu285Phe chr2 201899591 201899594 VAR_037429 + Q92851:p.Ile406Leu chr2 201899603 201899606 VAR_014072 + Q92851:p.Val410Ile chr2 201899615 201899618 VAR_037430 + Q92851:p.Ala414Val chr2 201899711 201899714 VAR_037431 + Q92851:p.Tyr446Cys chr1 116023006 116023009 VAR_023692 - O14958:p.Thr66Ala chr1 116022976 116022979 VAR_023693 - O14958:p.Val76Met chr1 115959872 115959875 VAR_016075 - O14958:p.Asp307His chr3 123455840 123455843 VAR_003585 + P41180:p.Pro39Ala chr3 123455909 123455911 VAR_003586 + P41180:p.Arg62Met chr3 123458617 123458618 VAR_003586 + P41180:p.Arg62Met chr3 123458627 123458630 VAR_003587 + P41180:p.Arg66Cys chr3 123458777 123458780 VAR_003588 + P41180:p.Ala116Thr chr3 123458810 123458813 VAR_003589 + P41180:p.Glu127Ala chr3 123458843 123458846 VAR_003590 + P41180:p.Thr138Met chr3 123458858 123458861 VAR_003591 + P41180:p.Gly143Glu chr3 123463091 123463094 VAR_003592 + P41180:p.Leu174Arg chr3 123463124 123463127 VAR_003593 + P41180:p.Arg185Gln chr3 123463250 123463253 VAR_003594 + P41180:p.Arg227Leu chr3 123463250 123463253 VAR_003595 + P41180:p.Arg227Gln chr3 123463460 123463463 VAR_003596 + P41180:p.Glu297Lys chr3 123483709 123483712 VAR_012649 + P41180:p.Gly557Glu chr3 123485234 123485237 VAR_003597 + P41180:p.Cys582Tyr chr3 123485336 123485339 VAR_015414 + P41180:p.Leu616Val chr3 123485531 123485534 VAR_003598 + P41180:p.Gln681His chr3 123485789 123485792 VAR_021019 + P41180:p.Glu767Lys chr3 123485873 123485876 VAR_003599 + P41180:p.Arg795Trp chr3 123485906 123485909 VAR_003600 + P41180:p.Phe806Ser chr3 123486041 123486044 VAR_003601 + P41180:p.Cys851Ser chr3 123486341 123486344 VAR_020220 + P41180:p.Pro951Thr chr3 123486446 123486449 VAR_014450 + P41180:p.Ala986Ser chr3 123486458 123486461 VAR_020221 + P41180:p.Arg990Gly chr8 11748294 11748297 VAR_006724 - P07858:p.Leu26Val chr8 11742057 11742060 VAR_014696 - P07858:p.Ser235Asn chr11 87710371 87710374 VAR_016933 - P53634:p.Trp39Ser chr11 87707848 87707872 VAR_019035 - P53634:p.67_74del chr11 87685307 87685310 VAR_016934 - P53634:p.His127Pro chr11 87685301 87685304 VAR_019036 - P53634:p.Val129Glu chr11 87685271 87685274 VAR_019037 - P53634:p.Gly139Arg chr11 87673394 87673397 VAR_019038 - P53634:p.Asp236Tyr chr11 87673355 87673358 VAR_009541 - P53634:p.Val249Phe chr11 87673346 87673349 VAR_009542 - P53634:p.Gln252Leu chr11 87669021 87669024 VAR_019039 - P53634:p.Arg272His chr11 87669021 87669024 VAR_009543 - P53634:p.Arg272Pro chr11 87668979 87668982 VAR_016935 - P53634:p.Gln286Arg chr11 87668964 87668967 VAR_019040 - P53634:p.Cys291Tyr chr11 87668955 87668958 VAR_039686 - P53634:p.Tyr294His chr11 87667313 87667316 VAR_019041 - P53634:p.Gly300Asp chr11 87667313 87667316 VAR_019042 - P53634:p.Gly300Ser chr11 87667310 87667313 VAR_009544 - P53634:p.Gly301Ser chr11 87667310 87667313 VAR_019043 - P53634:p.Gly301Val chr11 87667301 87667304 VAR_019044 - P53634:p.Tyr304Asn chr11 87667277 87667280 VAR_019045 - P53634:p.Gln312Arg chr11 87667256 87667259 VAR_019046 - P53634:p.Glu319Gly chr11 87667196 87667199 VAR_009545 - P53634:p.Arg339Cys chr11 87667193 87667196 VAR_016944 - P53634:p.Tyr340Cys chr11 87667172 87667175 VAR_009546 - P53634:p.Tyr347Cys chr11 87667010 87667013 VAR_016945 - P53634:p.Glu401Lys chr11 87666998 87667001 VAR_027249 - P53634:p.His405Asn chr11 87666998 87667001 VAR_027250 - P53634:p.His405Arg chr11 87666977 87666980 VAR_019047 - P53634:p.Tyr412Cys chr11 87666926 87666929 VAR_016936 - P53634:p.Trp429Cys chr11 87666872 87666875 VAR_019048 - P53634:p.Glu447Gly chr11 87666854 87666857 VAR_016946 - P53634:p.Ile453Val chr11 1739168 1739171 VAR_011621 - P07339:p.Ala58Val chr11 1735146 1735149 VAR_029362 - P07339:p.Phe229Ile chr11 1731398 1731401 VAR_029363 - P07339:p.Trp383Cys chr14 24113509 24113512 VAR_006491 - P08311:p.Asn125Ser chr1 147591656 147591659 VAR_015738 - P43235:p.Gly79Glu chr1 147589749 147589752 VAR_006725 - P43235:p.Gly146Arg chr1 147584775 147584778 VAR_015739 - P43235:p.Ala277Val chr1 147582410 147582413 VAR_006726 - P43235:p.Leu309Pro chr1 147540609 147540612 VAR_025385 - P25774:p.Arg113Trp chr1 147537473 147537476 VAR_025386 - P25774:p.Ser161Thr chr20 57015470 57015473 VAR_010254 - Q9UBR2:p.Pro36Ser chr20 57010014 57010017 VAR_010255 - Q9UBR2:p.Ala129Arg chr20 57004152 57004155 VAR_033719 - Q9UBR2:p.Ala286Thr chr7 115793148 115793151 VAR_015103 + Q03135:p.Pro132Leu chr7 115740024 115740027 VAR_012071 + P51636:p.Gln130Glu chr3 8750601 8750604 VAR_043694 + P56539:p.Val14Leu chr3 8750640 8750643 VAR_011512 + P56539:p.Arg27Gln chr3 8750643 8750646 VAR_015374 + P56539:p.Asp28Glu chr3 8750646 8750649 VAR_029540 + P56539:p.Pro29Leu chr3 8750658 8750661 VAR_021016 + P56539:p.Asn33Lys chr3 8762226 8762229 VAR_021017 + P56539:p.Val44Glu chr3 8762232 8762235 VAR_011513 + P56539:p.Ala46Thr chr3 8762232 8762235 VAR_011514 + P56539:p.Ala46Val chr3 8762253 8762256 VAR_029541 + P56539:p.Ser53Gly chr3 8762262 8762265 VAR_029542 + P56539:p.Gly56Ser chr3 8762265 8762268 VAR_010742 + P56539:p.Val57Met chr3 8762277 8762280 VAR_026696 + P56539:p.Ser61Arg chr3 8762286 8762295 VAR_001402 + P56539:p.64_66del chr3 8762286 8762289 VAR_021018 + P56539:p.Thr64Pro chr3 8762286 8762289 VAR_029543 + P56539:p.Thr64Ser chr3 8762310 8762313 VAR_010743 + P56539:p.Cys72Trp chr3 8762328 8762331 VAR_043695 + P56539:p.Thr78Met chr3 8762331 8762334 VAR_043696 + P56539:p.Leu79Arg chr3 8762349 8762352 VAR_043697 + P56539:p.Ala85Thr chr3 8762355 8762358 VAR_016207 + P56539:p.Leu87Pro chr3 8762373 8762376 VAR_016208 + P56539:p.Ala93Thr chr3 8762385 8762388 VAR_043698 + P56539:p.Phe97Cys chr3 8762385 8762388 VAR_029544 + P56539:p.97del chr3 8762409 8762412 VAR_001403 + P56539:p.Pro105Leu chr3 8762472 8762475 VAR_029545 + P56539:p.Arg126His chr3 8762517 8762520 VAR_043699 + P56539:p.Ser141Arg chr2 27712158 27712161 VAR_031313 + Q68DN1:p.Arg357Gly chr2 27712602 27712605 VAR_031314 + Q68DN1:p.Asp505Val chr2 27713052 27713055 VAR_031315 + Q68DN1:p.Thr655Ser chr2 27713067 27713070 VAR_031316 + Q68DN1:p.Ala660Glu chr2 27713142 27713145 VAR_031317 + Q68DN1:p.Val685Ala chr2 27713388 27713391 VAR_031318 + Q68DN1:p.Ile767Thr chr2 27713409 27713412 VAR_031319 + Q68DN1:p.Ile774Val chr2 27715587 27715590 VAR_031320 + Q68DN1:p.Ser1500Phe chr2 27715764 27715767 VAR_031321 + Q68DN1:p.His1559Tyr chr2 27715926 27715929 VAR_031322 + Q68DN1:p.Asn1613Ser chr2 27716082 27716085 VAR_031323 + Q68DN1:p.Ser1665Pro chr2 210467579 210467582 VAR_033656 + Q8N2C7:p.Arg131Trp chr2 219862947 219862950 VAR_024299 - Q9BV87:p.Pro366Leu chr2 132358501 132358504 VAR_033657 + Q580R0:p.Pro203Leu chr2 228020892 228020895 VAR_036028 + Q9GZY8:p.Glu29Lys chr2 26578780 26578783 VAR_030625 + Q96MC2:p.Lys357Glu chr2 26579265 26579268 VAR_030626 + Q96MC2:p.Trp399Arg chr2 26588045 26588048 VAR_030627 + Q96MC2:p.Val633Phe chr2 26589689 26589692 VAR_030628 + Q96MC2:p.Ser702Ile chr2 24173709 24173712 VAR_034834 - Q9H6R7:p.Thr102Met chr2 24172653 24172656 VAR_035876 - Q9H6R7:p.Pro454Ser chr2 200654031 200654034 VAR_034911 + Q8WWC4:p.Leu290Ile chr2 10301108 10301111 VAR_029619 + Q96LS8:p.Pro90Leu chr2 27272266 27272269 VAR_037469 - Q53SZ7:p.Arg194Gly chr2 27272182 27272185 VAR_037470 - Q53SZ7:p.Arg222Cys chr2 37370958 37370961 VAR_038274 + Q7L592:p.Pro39Ala chr2 232283197 232283200 VAR_036894 + Q53QW1:p.Val11Leu chr2 232283401 232283404 VAR_036895 + Q53QW1:p.Gln79Arg chr2 232283668 232283671 VAR_036896 + Q53QW1:p.Glu168Lys chr2 232283947 232283950 VAR_036897 + Q53QW1:p.Ser261Pro chr2 38319369 38319372 VAR_036899 + Q8N0T5:p.Leu11Phe chr2 38319516 38319519 VAR_036900 + Q8N0T5:p.Ser60Pro chr2 38319615 38319618 VAR_036901 + Q8N0T5:p.Leu93Ser chr17 7702234 7702237 VAR_037486 + Q6P9G0:p.Phe20Leu chr17 3993816 3993819 VAR_037487 + Q8WUJ1:p.Arg7Gly chr17 3993816 3993819 VAR_037488 + Q8WUJ1:p.Arg7Pro chr14 93850393 93850396 VAR_007111 - P08185:p.Leu115His chr14 93845971 93845974 VAR_024350 - P08185:p.Ser246Ala chr14 93840558 93840561 VAR_016223 - P08185:p.Asp389Asn chr3 106903834 106903837 VAR_025303 - Q13191:p.Arg584Lys chr3 106871806 106871809 VAR_039241 - Q13191:p.Asn883Asp chr19 49988645 49988648 VAR_018298 + Q9ULV8:p.His405Tyr chr7 129503549 129503552 VAR_031204 + P48052:p.Glu80Gly chr7 129538352 129538355 VAR_020393 + Q9UI42:p.Pro157Thr chr7 129544690 129544693 VAR_020394 + Q9UI42:p.Gly303Cys chr7 129583802 129583805 VAR_017191 + Q8WXQ8:p.Pro79Ser chr7 129601330 129601333 VAR_017192 + Q8WXQ8:p.Leu336Ser chr7 129601336 129601339 VAR_017193 + Q8WXQ8:p.Glu338Asp chr8 68699021 68699024 VAR_024241 - Q8N4T0:p.Phe45Leu chr8 68584320 68584323 VAR_025003 - Q8N4T0:p.Ser173Cys chr13 45546092 45546095 VAR_032565 - Q96IY4:p.Ala169Thr chr11 47668787 47668790 VAR_031572 - Q5U5Z8:p.Arg349His chr2 27193778 27193781 VAR_035231 + Q8NDL9:p.Gly649Asp chr17 25730229 25730232 VAR_027771 + O75976:p.Lys36Glu chr17 25773869 25773872 VAR_027772 + O75976:p.Glu454Gly chr17 25774022 25774025 VAR_027773 + O75976:p.His505Asn chr17 25796985 25796988 VAR_027774 + O75976:p.Thr899Ile chr4 166763276 166763279 VAR_036011 + P16870:p.Arg297Gln chr2 207645779 207645782 VAR_027850 + Q8IVL8:p.Met85Ile chr2 207649887 207649890 VAR_027851 + Q8IVL8:p.Ser134Arg chr2 207658531 207658534 VAR_036012 + Q8IVL8:p.Lys273Asn chr4 8734293 8734296 VAR_027884 + Q66K79:p.Thr501Met chr16 3747894 3747897 VAR_037305 - Q92793:p.Tyr1175Cys chr16 3739630 3739633 VAR_035080 - Q92793:p.Glu1278Lys chr16 3729617 3729620 VAR_027953 - Q92793:p.Val1414Ile chr16 3728613 3728616 VAR_035081 - Q92793:p.Thr1447Ile chr16 3728604 3728607 VAR_035082 - Q92793:p.Tyr1450His chr16 3726801 3726804 VAR_035083 - Q92793:p.His1470Arg chr16 3721373 3721376 VAR_035084 - Q92793:p.Arg1664His chr21 36365218 36365221 VAR_031706 + P16152:p.Pro131Ser chr21 36429369 36429372 VAR_033868 + O75828:p.Cys4Tyr chr21 36429609 36429612 VAR_033869 + O75828:p.Leu84Val chr21 36429636 36429639 VAR_033870 + O75828:p.Val93Ile chr21 36432093 36432096 VAR_033871 + O75828:p.Pro131Ser chr21 36440548 36440551 VAR_033872 + O75828:p.Met235Leu chr21 36440575 36440578 VAR_033873 + O75828:p.Val244Met chr21 43365225 43365228 VAR_008049 - P35520:p.Pro49Leu chr21 43365198 43365201 VAR_008050 - P35520:p.Arg58Trp chr21 43365177 43365180 VAR_021790 - P35520:p.His65Arg chr21 43361769 43361772 VAR_002171 - P35520:p.Pro78Arg chr21 43361748 43361751 VAR_008051 - P35520:p.Gly85Arg chr21 43361739 43361742 VAR_002172 - P35520:p.Pro88Ser chr21 43361700 43361703 VAR_021791 - P35520:p.Leu101Pro chr21 43361697 43361700 VAR_002173 - P35520:p.Lys102Asn chr21 43361697 43361700 VAR_008052 - P35520:p.Lys102Gln chr21 43359545 43359548 VAR_021792 - P35520:p.Cys109Arg chr21 43359530 43359533 VAR_002174 - P35520:p.Ala114Val chr21 43359524 43359527 VAR_008053 - P35520:p.Gly116Arg chr21 43359509 43359512 VAR_008054 - P35520:p.Arg121Cys chr21 43359509 43359512 VAR_008055 - P35520:p.Arg121His chr21 43359509 43359512 VAR_008056 - P35520:p.Arg121Leu chr21 43359497 43359500 VAR_002175 - P35520:p.Arg125Gln chr21 43359497 43359500 VAR_008057 - P35520:p.Arg125Trp chr21 43359494 43359497 VAR_008058 - P35520:p.Met126Val chr21 43359488 43359491 VAR_008059 - P35520:p.Glu128Asp chr21 43359479 43359482 VAR_002176 - P35520:p.Glu131Asp chr21 43359455 43359458 VAR_008060 - P35520:p.Gly139Arg chr21 43359443 43359446 VAR_021793 - P35520:p.Ile143Met chr21 43359440 43359443 VAR_002177 - P35520:p.Glu144Lys chr21 43359437 43359440 VAR_002178 - P35520:p.Pro145Leu chr21 43359428 43359431 VAR_008061 - P35520:p.Gly148Arg chr21 43358872 43358874 VAR_008062 - P35520:p.Gly151Arg chr21 43359421 43359422 VAR_008062 - P35520:p.Gly151Arg chr21 43358869 43358872 VAR_008064 - P35520:p.Ile152Met chr21 43358860 43358863 VAR_008065 - P35520:p.Ala155Thr chr21 43358830 43358833 VAR_002179 - P35520:p.Cys165Tyr chr21 43358821 43358824 VAR_002180 - P35520:p.Val168Met chr21 43358797 43358800 VAR_008066 - P35520:p.Glu176Lys chr21 43358691 43358694 VAR_008067 - P35520:p.Val180Ala chr21 43358658 43358661 VAR_008068 - P35520:p.Thr191Met chr21 43358637 43358640 VAR_008069 - P35520:p.Asp198Val chr21 43358445 43358448 VAR_002181 - P35520:p.Arg224His chr21 43358439 43358442 VAR_008070 - P35520:p.Ala226Thr chr21 43358433 43358436 VAR_021794 - P35520:p.Asn228Lys chr21 43358415 43358418 VAR_008071 - P35520:p.Asp234Asn chr21 43358400 43358403 VAR_002182 - P35520:p.Glu239Lys chr21 43357135 43357138 VAR_002183 - P35520:p.Thr257Met chr21 43357120 43357123 VAR_008072 - P35520:p.Thr262Met chr21 43357120 43357123 VAR_021795 - P35520:p.Thr262Arg chr21 43357108 43357111 VAR_008073 - P35520:p.Arg266Gly chr21 43357108 43357111 VAR_008074 - P35520:p.Arg266Lys chr21 43357096 43357099 VAR_008075 - P35520:p.270del chr21 43357081 43357084 VAR_021796 - P35520:p.Cys275Tyr chr21 43356251 43356254 VAR_002184 - P35520:p.Ile278Thr chr21 43356215 43356218 VAR_002185 - P35520:p.Pro290Leu chr21 43356179 43356182 VAR_008076 - P35520:p.Glu302Lys chr21 43356170 43356173 VAR_008077 - P35520:p.Gly305Arg chr21 43356164 43356167 VAR_002186 - P35520:p.Gly307Ser chr21 43355568 43355571 VAR_008078 - P35520:p.Val320Ala chr21 43355535 43355538 VAR_008079 - P35520:p.Ala331Glu chr21 43355535 43355538 VAR_002187 - P35520:p.Ala331Val chr21 43355520 43355523 VAR_002188 - P35520:p.Arg336Cys chr21 43355520 43355523 VAR_008080 - P35520:p.Arg336His chr21 43355514 43355517 VAR_021797 - P35520:p.Leu338Pro chr21 43353717 43353720 VAR_021799 - P35520:p.Ser349Asn chr21 43353708 43353711 VAR_008081 - P35520:p.Ser352Asn chr21 43353705 43353708 VAR_008082 - P35520:p.Thr353Met chr21 43353702 43353705 VAR_008083 - P35520:p.Val354Met chr21 43353699 43353702 VAR_021800 - P35520:p.Ala355Pro chr21 43353657 43353660 VAR_008084 - P35520:p.Arg369Cys chr21 43353657 43353660 VAR_002189 - P35520:p.Arg369His chr21 43353654 43353657 VAR_008085 - P35520:p.Cys370Tyr chr21 43353651 43353654 VAR_002190 - P35520:p.Val371Met chr21 43353627 43353630 VAR_021801 - P35520:p.Arg379Gln chr21 43352475 43352478 VAR_002191 - P35520:p.Lys384Glu chr21 43352475 43352478 VAR_008086 - P35520:p.Lys384Asn chr21 43352454 43352457 VAR_008087 - P35520:p.Met391Ile chr21 43352104 43352107 VAR_021802 - P35520:p.Pro422Leu chr21 43352068 43352071 VAR_008088 - P35520:p.Thr434Asn chr21 43352065 43352068 VAR_008089 - P35520:p.Ile435Thr chr21 43352053 43352056 VAR_008090 - P35520:p.Arg439Gln chr21 43352038 43352041 VAR_002192 - P35520:p.Asp444Asn chr21 43351428 43351431 VAR_002193 - P35520:p.Val454Glu chr21 43351422 43351425 VAR_021803 - P35520:p.Leu456Pro chr21 43351392 43351395 VAR_008091 - P35520:p.Ser466Leu chr21 43350060 43350063 VAR_008092 - P35520:p.Arg491Cys chr21 43347112 43347115 VAR_008093 - P35520:p.Val534Asp chr21 43347097 43347100 VAR_002194 - P35520:p.Leu539Ser chr9 168945 168948 VAR_026979 - Q9BRT8:p.Ala8Val chr17 75383247 75383250 VAR_014954 - Q9HC52:p.Gly317Val chr3 120702262 120702265 VAR_027885 + Q9NPL8:p.Asn76Asp chr3 114215527 114215530 VAR_025418 - Q6NW34:p.Glu101Lys chr3 114209886 114209889 VAR_025419 - Q6NW34:p.Pro352Ser chr3 114209871 114209874 VAR_025420 - Q6NW34:p.Phe357Ile chr3 114207348 114207351 VAR_025421 - Q6NW34:p.Thr476Ala chr3 114207306 114207309 VAR_025422 - Q6NW34:p.Ser490Pro chr3 50578110 50578113 VAR_025720 - Q9UK00:p.Ala8Asp chr3 14699347 14699350 VAR_027886 + Q8ND61:p.Gly42Asp chr3 14699416 14699419 VAR_027887 + Q8ND61:p.Asp65Asn chr3 14700793 14700796 VAR_025722 + Q8ND61:p.Ala176Thr chr3 14706569 14706572 VAR_027888 + Q8ND61:p.Ser230Tyr chr3 14720860 14720863 VAR_027889 + Q8ND61:p.Ala298Thr chr3 14730575 14730578 VAR_027890 + Q8ND61:p.Ile407Val chr3 14730620 14730623 VAR_027891 + Q8ND61:p.Leu422Val chr3 130623195 130623198 VAR_033697 - Q6NXP0:p.Glu66Gly chr3 101369351 101369354 VAR_033658 + Q9BQ75:p.Val166Ile chr3 120347858 120347861 VAR_028841 + Q96M34:p.Asn45Thr chr3 120348020 120348023 VAR_028842 + Q96M34:p.Asp99Gly chr3 120348302 120348305 VAR_028843 + Q96M34:p.Gln193His chr3 120348659 120348662 VAR_028844 + Q96M34:p.Gly312Ser chr3 120349734 120349737 VAR_028845 + Q96M34:p.Asp473Glu chr3 8650537 8650540 VAR_033659 - Q9Y2M2:p.Pro29Leu chr3 157003055 157003058 VAR_028846 - Q6P1S2:p.Ala47Thr chr3 151904356 151904359 VAR_032893 - Q7L0X2:p.Gly9Val chr3 151874484 151874487 VAR_032894 - Q7L0X2:p.Gly433Arg chr2 55682810 55682813 VAR_030795 + Q96G28:p.Asp243Gly chr2 55682819 55682822 VAR_030796 + Q96G28:p.Ile246Phe chr16 56841428 56841431 VAR_030880 + Q9H0I3:p.Asp4Glu chr16 56841434 56841437 VAR_030881 + Q9H0I3:p.Ser6Thr chr22 27501688 27501691 VAR_028823 + Q8IWD4:p.Arg147Ser chr22 27506841 27506844 VAR_028824 + Q8IWD4:p.Ser272Asn chr7 31365971 31365974 VAR_033660 + Q6ZRS4:p.Ala32Asp chr7 31384959 31384962 VAR_035496 + Q6ZRS4:p.Leu105Val chr7 31464070 31464073 VAR_033663 + Q6ZRS4:p.His739Tyr chr12 70312360 70312363 VAR_032070 - O60293:p.Glu1006Lys chr12 70294686 70294689 VAR_032071 - O60293:p.Lys1807Arg chr16 56316230 56316233 VAR_030900 + Q8IY82:p.Asn581Lys chr16 56319901 56319904 VAR_030901 + Q8IY82:p.Cys766Arg chr7 128035495 128035498 VAR_034880 + Q96JN2:p.Asp218His chr2 108866676 108866679 VAR_032420 + Q96M89:p.Asp99Tyr chr2 108866724 108866727 VAR_032421 + Q96M89:p.Arg115Lys chr2 74614409 74614412 VAR_037210 - Q17RM4:p.Arg534Gln chr10 106142100 106142103 VAR_030255 + Q5T655:p.Ser496Thr chr10 106199851 106199854 VAR_030256 + Q5T655:p.Gln804His chr1 100661923 100661926 VAR_019957 + Q9UNH5:p.Arg345Gln chr1 100676560 100676563 VAR_035655 + Q9UNH5:p.Asp493Tyr chr1 100695836 100695839 VAR_019958 + Q9UNH5:p.Ser589Phe chr9 96375803 96375806 VAR_019959 - O60729:p.Ile302Thr chr9 96365485 96365488 VAR_019960 - O60729:p.Ile341Thr chr22 17844802 17844805 VAR_019286 + O75419:p.Val81Ile chr22 17870676 17870679 VAR_019287 + O75419:p.Val376Met chr2 132124195 132124198 VAR_030268 + Q96AQ1:p.Gly302Arg chr2 130615972 130615975 VAR_030269 - Q96LY2:p.Thr169Met chr2 130613462 130613465 VAR_030270 - Q96LY2:p.Arg346His chr6 13922316 13922319 VAR_033320 - Q96AQ8:p.Ser108Gly chr6 13909591 13909594 VAR_033321 - Q96AQ8:p.Thr216Ala chr10 70186228 70186231 VAR_035497 + Q8IX12:p.Glu607Lys chr3 42882114 42882117 VAR_024252 + O00590:p.Tyr373Ser chr3 42747039 42747042 VAR_033664 - Q8IYE1:p.Ser547Thr chr17 30312743 30312746 VAR_030940 + Q96NB3:p.Ile16Val chr17 30312974 30312977 VAR_030941 + Q96NB3:p.Ser93Pro chr17 30313100 30313103 VAR_030942 + Q96NB3:p.Phe135Leu chr17 30313157 30313160 VAR_024060 + Q96NB3:p.Ser154Thr chr1 26280221 26280224 VAR_033665 + Q6P2H3:p.Ala542Thr chr1 3692361 3692364 VAR_026159 + Q2M243:p.Gln54Glu chr1 3701088 3701091 VAR_026160 + Q2M243:p.Met267Thr chr1 3702930 3702933 VAR_026161 + Q2M243:p.Thr353Met chr15 38642500 38642503 VAR_034743 - Q9BV29:p.Lys2Ile chr3 49269251 49269254 VAR_035002 + Q8IYA8:p.Asp430Glu chr17 75625077 75625080 VAR_035193 + Q4G0X9:p.Ala8Pro chr17 8585576 8585579 VAR_026282 - Q96M95:p.Ala144Thr chr17 59945919 59945922 VAR_033666 + Q96GE4:p.Met165Ile chr3 48448977 48448980 VAR_032515 - Q96ER9:p.Phe360Ser chr17 77745211 77745214 VAR_032516 - Q2TAC2:p.Glu237Gln chr17 77739472 77739475 VAR_032517 - Q2TAC2:p.Gln321Arg chr12 118329252 118329255 VAR_033667 + Q8IWA6:p.Ile46Val chr12 118379619 118379622 VAR_033668 + Q8IWA6:p.Thr115Ala chr12 118424290 118424293 VAR_033669 + Q8IWA6:p.Val393Ile chr12 121786971 121786974 VAR_035498 + Q6P9F0:p.Gln31Glu chr12 121810752 121810755 VAR_026715 + Q6P9F0:p.Thr394Lys chr13 51338130 51338133 VAR_026238 + Q6NSX1:p.Ile206Val chr3 49175694 49175697 VAR_026236 - Q8IV32:p.Gln317Leu chr12 391207 391210 VAR_029838 + Q9BR77:p.Ser25Arg chr12 417942 417945 VAR_029839 + Q9BR77:p.Met335Thr chr11 95757112 95757115 VAR_026164 - Q8N4S0:p.Gln149Glu chr11 95756090 95756093 VAR_026165 - Q8N4S0:p.Gln327Arg chr11 85261950 85261953 VAR_032525 + Q8IWF9:p.Thr49Ala chr11 118390927 118390930 VAR_029848 + Q86UT8:p.Trp244Gly chr11 60366629 60366632 VAR_032069 + Q9H6F5:p.Gln153His chr2 118432230 118432233 VAR_035499 - Q567U6:p.His315Arg chr4 7162449 7162452 VAR_026162 - Q2M329:p.Glu96Lys chr4 84741904 84741907 VAR_030790 - Q6UWZ7:p.Ala239Thr chr19 51606386 51606389 VAR_020272 - Q9H0W5:p.Lys507Asn chr19 52459965 52459968 VAR_033670 + Q9Y3X0:p.Glu215Asp chr19 52466544 52466547 VAR_033671 + Q9Y3X0:p.Ala456Val chr17 62482765 62482768 VAR_012063 + Q06432:p.Gly196Ser chr6 31230479 31230482 VAR_017761 - Q8TD31:p.Arg102Gln chr6 31230476 31230479 VAR_017762 - Q8TD31:p.Arg103Trp chr6 31230458 31230461 VAR_017763 - Q8TD31:p.Arg109Trp chr6 31230293 31230296 VAR_017764 - Q8TD31:p.Ser164Arg chr6 31226875 31226878 VAR_017782 - Q8TD31:p.Leu179Gln chr6 31226489 31226492 VAR_017765 - Q8TD31:p.Glu275Asp chr6 31224478 31224481 VAR_017783 - Q8TD31:p.Ala367Thr chr6 31224222 31224225 VAR_017767 - Q8TD31:p.Arg417Gln chr6 31224222 31224225 VAR_017766 - Q8TD31:p.Arg417Trp chr6 31220800 31220803 VAR_017768 - Q8TD31:p.Lys546Arg chr6 31220713 31220716 VAR_017769 - Q8TD31:p.Gly575Cys chr6 31220461 31220464 VAR_017770 - Q8TD31:p.Arg627Gln chr6 31219152 31219155 VAR_017771 - Q8TD31:p.Gln639His chr6 31218743 31218746 VAR_017784 - Q8TD31:p.Ala733Val chr6 31218368 31218371 VAR_017772 - Q8TD31:p.Ser776Cys chrX 10899428 10899431 VAR_030823 + P53701:p.Arg217Cys chr3 42280030 42280033 VAR_018818 - P06307:p.Gly32Glu chr3 42274656 42274659 VAR_024452 - P06307:p.Arg95Trp chr17 29636958 29636961 VAR_001634 + P51671:p.Leu7Pro chr17 29637006 29637009 VAR_001635 + P51671:p.Ala23Thr chr17 29638301 29638304 VAR_001636 + P51671:p.Arg51Ser chr17 29638762 29638765 VAR_001637 + P51671:p.Lys79Arg chr17 29707670 29707673 VAR_024169 + Q99616:p.Ala5Ser chr17 31352572 31352575 VAR_011640 - Q16663:p.Ile24Thr chr2 228505736 228505739 VAR_011915 + P78556:p.Val47Met chr7 75087378 75087381 VAR_018404 - O00175:p.Ile29Leu chr7 75046091 75046094 VAR_029192 - Q9Y258:p.Leu18Arg chr9 34652045 34652048 VAR_022103 - Q9Y4X3:p.Ile78Val chr9 34651991 34651994 VAR_022104 - Q9Y4X3:p.Leu96Phe chr17 29671943 29671946 VAR_001633 + P80075:p.Lys69Gln chr15 57193964 57193967 VAR_022221 + O95067:p.Met100Thr chr15 57204353 57204356 VAR_022222 + O95067:p.Ile395Thr chr12 4279367 4279370 VAR_018820 + P30279:p.Gly268Arg chr6 42016097 42016100 VAR_020412 - P30281:p.Pro134Ser chr6 42011775 42011778 VAR_033726 - P30281:p.Glu253Asp chr6 42011757 42011760 VAR_014205 - P30281:p.Ser259Ala chr8 95963089 95963092 VAR_021347 - O96020:p.Asn387Ser chr5 162801482 162801485 VAR_021079 + P51959:p.Asn178His chr5 162801485 162801488 VAR_021080 + P51959:p.Phe179Leu chr4 78436873 78436876 VAR_014333 + Q16589:p.Leu4Val chr4 78436945 78436948 VAR_014334 + Q16589:p.Glu28Gly chr5 86744283 86744286 VAR_013067 - P51946:p.Arg28Leu chr5 86742874 86742877 VAR_013068 - P51946:p.Met54Val chr5 86739659 86739662 VAR_013069 - P51946:p.Lys138Arg chr5 86731028 86731031 VAR_013070 - P51946:p.Val270Ala chr4 78333550 78333553 VAR_016312 - Q14094:p.Val207Ile chr5 54564029 54564032 VAR_029081 - P22674:p.Leu161Met chr3 46374154 46374157 VAR_020066 + P41597:p.Leu45Val chr3 46374211 46374214 VAR_014339 + P41597:p.Val64Ile chr3 46376292 46376295 VAR_014340 + P41597:p.Gly355Glu chr3 46281713 46281716 VAR_020067 + P51677:p.Gly21Asp chr3 46282304 46282307 VAR_010668 + P51677:p.Cys218Ser chr3 32970305 32970308 VAR_010669 + P51679:p.Leu130Val chr3 32970449 32970452 VAR_010670 + P51679:p.Cys178Ser chr3 46389424 46389427 VAR_003481 + P51681:p.Tyr10Asp chr3 46389430 46389433 VAR_024066 + P51681:p.Ile12Leu chr3 46389454 46389457 VAR_024067 + P51681:p.Cys20Ser chr3 46389481 46389484 VAR_011839 + P51681:p.Ala29Ser chr3 46389487 46389490 VAR_003482 + P51681:p.Arg31His chr3 46389496 46389499 VAR_003483 + P51681:p.Pro34Leu chr3 46389520 46389523 VAR_024068 + P51681:p.Ile42Phe chr3 46389559 46389562 VAR_011840 + P51681:p.Leu55Gln chr3 46389574 46389577 VAR_011841 + P51681:p.Arg60Ser chr3 46389580 46389583 VAR_003484 + P51681:p.Lys62Arg chr3 46389598 46389601 VAR_003485 + P51681:p.Tyr68His chr3 46389613 46389616 VAR_024069 + P51681:p.Ala73Val chr3 46389679 46389682 VAR_003486 + P51681:p.Asp95Asn chr3 46389685 46389688 VAR_003487 + P51681:p.Gly97Glu chr3 46389760 46389763 VAR_003488 + P51681:p.Leu122Pro chr3 46389868 46389871 VAR_003489 + P51681:p.Phe158Ser chr3 46389922 46389925 VAR_003490 + P51681:p.Tyr176Cys chr3 46389925 46389928 VAR_003491 + P51681:p.Thr177Ala chr3 46389928 46389931 VAR_012481 + P51681:p.Cys178Arg chr3 46389949 46389952 VAR_003492 + P51681:p.Ser185Asn chr3 46390024 46390027 VAR_003493 + P51681:p.Met210Val chr3 46390036 46390039 VAR_003494 + P51681:p.Tyr214Cys chr3 46390039 46390042 VAR_024070 + P51681:p.Ser215Leu chr3 46390063 46390066 VAR_011842 + P51681:p.Arg223Gln chr3 46390078 46390081 VAR_024071 + P51681:p.228del chr3 46390111 46390114 VAR_003495 + P51681:p.Thr239Ser chr3 46390132 46390135 VAR_003496 + P51681:p.Leu246Pro chr3 46390258 46390261 VAR_003497 + P51681:p.Thr288Met chr3 46390297 46390300 VAR_011843 + P51681:p.Gly301Val chr3 46390300 46390303 VAR_003498 + P51681:p.Glu302Gly chr3 46390303 46390306 VAR_003499 + P51681:p.Lys303Glu chr3 46390312 46390315 VAR_003500 + P51681:p.Asn306Ser chr3 46390360 46390363 VAR_003501 + P51681:p.Lys322Arg chr3 46390393 46390396 VAR_003502 + P51681:p.Glu333Gly chr3 46390399 46390402 VAR_003503 + P51681:p.Ala335Val chr3 46390411 46390414 VAR_003504 + P51681:p.Tyr339Phe chr3 46390429 46390432 VAR_003505 + P51681:p.Glu345Gly chr3 45917557 45917560 VAR_029208 + P51686:p.Ile92Val chr3 45918133 45918136 VAR_020068 + P51686:p.Met284Val chr3 46425072 46425075 VAR_026488 + O00421:p.Phe167Tyr chr3 46425075 46425078 VAR_026489 + O00421:p.Val168Met chr3 46425300 46425303 VAR_026490 + O00421:p.Ile243Val chr4 5645171 5645174 VAR_024301 + Q99440:p.Asn15Lys chr4 57684220 57684223 VAR_025941 - Q8NC60:p.Ala153Ser chr4 57680406 57680409 VAR_025942 - Q8NC60:p.Lys450Arg chr4 57673740 57673743 VAR_035500 - Q8NC60:p.Gln579Arg chr4 2200938 2200941 VAR_034912 - Q68CZ6:p.Ile586Thr chr4 100800896 100800899 VAR_028110 + Q53FE4:p.Gly64Glu chr4 100800959 100800962 VAR_028111 + Q53FE4:p.Ser85Pro chr4 100800977 100800980 VAR_028112 + Q53FE4:p.Glu91Lys chr4 159409598 159409601 VAR_032514 - Q6UWH4:p.Gly432Ser chr4 37414693 37414696 VAR_032118 + Q8IY42:p.Ala151Thr chr4 37415062 37415065 VAR_032119 + Q8IY42:p.Glu274Gly chr4 113897571 113897574 VAR_032147 - Q86YA3:p.Asn410Ser chr4 113882325 113882328 VAR_032149 - Q86YA3:p.Thr978Ile chr4 76846522 76846525 VAR_034915 + Q17RF5:p.Pro30Leu chr4 76846759 76846762 VAR_034916 + Q17RF5:p.Arg109His chr4 171025506 171025509 VAR_033184 - Q9NWY4:p.Glu331Asp chr4 17481898 17481901 VAR_034917 - Q9NXF7:p.Asn45Ser chr4 17481646 17481649 VAR_034918 - Q9NXF7:p.Thr129Ile chr4 113424475 113424478 VAR_032150 + Q8N8J7:p.Pro46Gln chr4 130381487 130381490 VAR_033334 + Q8N1A6:p.Arg40Met chr4 130388247 130388250 VAR_033335 + Q8N1A6:p.Ser104Leu chr4 130390446 130390449 VAR_033337 + Q8N1A6:p.His166Arg chr4 88166564 88166567 VAR_029755 - Q96KX1:p.Ser36Tyr chr4 99406810 99406813 VAR_037359 - Q8N412:p.Cys111Trp chr4 99406807 99406810 VAR_037360 - Q8N412:p.Phe112Val chr4 99406768 99406771 VAR_037361 - Q8N412:p.Tyr125His chr4 99384359 99384362 VAR_037362 - Q8N412:p.Ile178Val chr4 99250704 99250707 VAR_037363 - Q8N412:p.Lys279Arg chr4 98991087 98991090 VAR_037364 - Q8N412:p.Val420Ala chr4 1234707 1234710 VAR_038479 + Q0VAR9:p.Tyr173Cys chr6 74463901 74463904 VAR_028875 + Q6YHK3:p.Gly45Val chr6 74550151 74550154 VAR_028876 + Q6YHK3:p.Tyr703Ser chr6 74553728 74553731 VAR_028877 + Q6YHK3:p.Asn797Ser chr6 74553872 74553875 VAR_028878 + Q6YHK3:p.Val845Ile chr6 74573345 74573348 VAR_036236 + Q6YHK3:p.Gln1007Glu chr6 74574529 74574532 VAR_036237 + Q6YHK3:p.Asn1065Lys chr6 74578666 74578669 VAR_028879 + Q6YHK3:p.Thr1241Met chr5 139992140 139992143 VAR_024302 - P08571:p.Asn204Asp chr11 827255 827258 VAR_025098 + P48509:p.Thr120Met chr11 827291 827294 VAR_012490 + P48509:p.Lys132Arg chr11 827306 827309 VAR_012491 + P48509:p.Pro137Ser chr11 827534 827537 VAR_021153 + P48509:p.Arg178His chr3 106736333 106736336 VAR_029514 + Q13740:p.Gly229Asp chr3 106741549 106741552 VAR_003907 + Q13740:p.Asn258Ser chr3 106743208 106743211 VAR_003908 + Q13740:p.Thr301Met chr3 106743250 106743253 VAR_029515 + Q13740:p.Leu315Met chr3 106746818 106746821 VAR_029516 + Q13740:p.Val352Met chr5 66517532 66517535 VAR_021978 - Q99467:p.Asn53Lys chr5 66516129 66516132 VAR_021979 - Q99467:p.Ser99Arg chr1 154964445 154964448 VAR_010211 + P15813:p.Thr64Ser chr19 7716509 7716512 VAR_036689 - Q9NNX6:p.Glu214Asp chr19 7716425 7716428 VAR_036690 - Q9NNX6:p.Leu242Val chr11 65841056 65841059 VAR_036399 - Q9HCU0:p.Leu6Phe chr11 65839703 65839706 VAR_025013 - Q9HCU0:p.His457Arg chrY 19542588 19542591 VAR_031576 - P25063:p.Thr44Ser chrY 19542549 19542552 VAR_016156 - P25063:p.Ala57Val chr9 21964784 21964787 VAR_001408 - P42771:p.Asp14Glu chr9 21964778 21964781 VAR_001409 - P42771:p.Leu16Pro chr9 21964766 21964769 VAR_001410 - P42771:p.Ala20Pro chr9 21964766 21964769 VAR_001411 - P42771:p.Ala20Ser chr9 21964757 21964760 VAR_001412 - P42771:p.Gly23Asp chr9 21964754 21964757 VAR_001413 - P42771:p.Arg24Cys chr9 21964754 21964757 VAR_001414 - P42771:p.Arg24Pro chr9 21964748 21964751 VAR_001415 - P42771:p.Glu26Asp chr9 21964730 21964733 VAR_001416 - P42771:p.Leu32Pro chr9 21964727 21964730 VAR_001417 - P42771:p.Glu33Asp chr9 21964721 21964724 VAR_001418 - P42771:p.Gly35Ala chr9 21964721 21964724 VAR_001419 - P42771:p.Gly35Glu chr9 21964682 21964685 VAR_001420 - P42771:p.Pro48Leu chr9 21964679 21964682 VAR_001421 - P42771:p.Ile49Ser chr9 21964679 21964682 VAR_001422 - P42771:p.Ile49Thr chr9 21964676 21964679 VAR_001423 - P42771:p.Gln50Arg chr9 21961198 21961201 VAR_001424 - P42771:p.Met53Ile chr9 21961189 21961192 VAR_001425 - P42771:p.Ser56Ile chr9 21961186 21961189 VAR_001426 - P42771:p.Ala57Val chr9 21961180 21961183 VAR_001427 - P42771:p.Val59Gly chr9 21961177 21961180 VAR_001428 - P42771:p.Ala60Thr chr9 21961171 21961177 VAR_001429 - P42771:p.Glu61_Leu62delinsAspVal chr9 21961171 21961174 VAR_001430 - P42771:p.Leu62Pro chr9 21961159 21961162 VAR_001431 - P42771:p.His66Tyr chr9 21961153 21961156 VAR_001432 - P42771:p.Ala68Leu chr9 21961153 21961156 VAR_001433 - P42771:p.Ala68Thr chr9 21961153 21961156 VAR_001434 - P42771:p.Ala68Val chr9 21961150 21961153 VAR_001435 - P42771:p.Glu69Lys chr9 21961150 21961153 VAR_001436 - P42771:p.Glu69Val chr9 21961144 21961147 VAR_001437 - P42771:p.Asn71Lys chr9 21961144 21961147 VAR_001438 - P42771:p.Asn71Ser chr9 21961141 21961144 VAR_001439 - P42771:p.Cys72Gly chr9 21961135 21961138 VAR_001440 - P42771:p.Asp74Asn chr9 21961135 21961138 VAR_001441 - P42771:p.Asp74Val chr9 21961117 21961120 VAR_001442 - P42771:p.Arg80Leu chr9 21961114 21961117 VAR_001443 - P42771:p.Pro81Leu chr9 21961108 21961111 VAR_001445 - P42771:p.His83Asn chr9 21961108 21961111 VAR_001444 - P42771:p.His83Tyr chr9 21961105 21961108 VAR_001446 - P42771:p.Asp84Glu chr9 21961105 21961108 VAR_001447 - P42771:p.Asp84His chr9 21961105 21961108 VAR_001448 - P42771:p.Asp84Asn chr9 21961105 21961108 VAR_001449 - P42771:p.Asp84Tyr chr9 21961102 21961105 VAR_001450 - P42771:p.Ala85Thr chr9 21961096 21961099 VAR_001451 - P42771:p.Arg87Pro chr9 21961096 21961099 VAR_012317 - P42771:p.Arg87Trp chr9 21961093 21961096 VAR_001452 - P42771:p.Glu88Asp chr9 21961090 21961093 VAR_001453 - P42771:p.Gly89Asp chr9 21961090 21961093 VAR_001454 - P42771:p.Gly89Ser chr9 21961078 21961081 VAR_001455 - P42771:p.Thr93Ala chr9 21961075 21961078 VAR_023604 - P42771:p.Leu94Gln chr9 21961072 21961075 VAR_001456 - P42771:p.Val95Ala chr9 21961066 21961069 VAR_001457 - P42771:p.Leu97Arg chr9 21961063 21961066 VAR_001458 - P42771:p.His98Pro chr9 21961063 21961066 VAR_001459 - P42771:p.His98Gln chr9 21961060 21961063 VAR_001460 - P42771:p.Arg99Pro chr9 21961060 21961063 VAR_001461 - P42771:p.Arg99Gln chr9 21961057 21961060 VAR_001462 - P42771:p.Ala100Leu chr9 21961057 21961060 VAR_001463 - P42771:p.Ala100Pro chr9 21961054 21961057 VAR_001464 - P42771:p.Gly101Trp chr9 21961051 21961054 VAR_015818 - P42771:p.Ala102Glu chr9 21961042 21961048 VAR_001465 - P42771:p.104_105del chr9 21961036 21961039 VAR_001466 - P42771:p.Arg107Cys chr9 21961036 21961039 VAR_001467 - P42771:p.Arg107His chr9 21961033 21961036 VAR_001469 - P42771:p.Asp108His chr9 21961033 21961036 VAR_001468 - P42771:p.Asp108Tyr chr9 21961021 21961024 VAR_035068 - P42771:p.Arg112Arg chr9 21961015 21961018 VAR_001470 - P42771:p.Pro114Leu chr9 21961006 21961009 VAR_001471 - P42771:p.Leu117Met chr9 21961003 21961006 VAR_001472 - P42771:p.Ala118Thr chr9 21961000 21961003 VAR_001473 - P42771:p.Glu119Gln chr9 21960997 21961000 VAR_001474 - P42771:p.Glu120Ala chr9 21960997 21961000 VAR_001475 - P42771:p.Glu120Lys chr9 21960991 21960994 VAR_035069 - P42771:p.Gly122Arg chr9 21960991 21960994 VAR_001476 - P42771:p.Gly122Ser chr9 21960988 21960991 VAR_001477 - P42771:p.His123Gln chr9 21960985 21960988 VAR_001478 - P42771:p.Arg124His chr9 21960979 21960982 VAR_001479 - P42771:p.Val126Asp chr9 21960976 21960979 VAR_001480 - P42771:p.Ala127Ser chr9 21960961 21960964 VAR_001481 - P42771:p.Ala132Pro chr9 21960955 21960958 VAR_001482 - P42771:p.Ala134Val chr9 21960931 21960934 VAR_001483 - P42771:p.His142Tyr chr9 21960925 21960928 VAR_001484 - P42771:p.Arg144Cys chr9 21960913 21960916 VAR_001486 - P42771:p.Ala148Thr chr9 21960907 21960910 VAR_001487 - P42771:p.Gly150Val chr9 21984279 21984282 VAR_029287 - Q8N726:p.Pro58Ser chr6 47684925 47684928 VAR_033672 + Q9Y5K6:p.Asn581Lys chr1 1683004 1683007 VAR_031716 - Q9UQ88:p.Arg93Trp chr1 1671057 1671060 VAR_031717 - Q9UQ88:p.Leu399Ser chr7 39764545 39764548 VAR_022381 + Q14004:p.Pro356Ala chr7 39764686 39764689 VAR_022382 + Q14004:p.Leu403Phe chr7 39800453 39800456 VAR_022383 + Q14004:p.Arg410Gln chr7 39800705 39800708 VAR_041965 + Q14004:p.Thr494Ala chr7 39800723 39800726 VAR_022384 + Q14004:p.Thr500Ala chr7 39801095 39801097 VAR_022385 + Q14004:p.Ser624Gly chr7 39810332 39810333 VAR_022385 + Q14004:p.Ser624Gly chr7 39810468 39810471 VAR_041966 + Q14004:p.Thr670Arg chr7 39812254 39812257 VAR_022386 + Q14004:p.Arg700Leu chr7 39901118 39901121 VAR_022387 + Q14004:p.Val1062Met chr7 39905895 39905898 VAR_041967 + Q14004:p.Val1170Met chr1 117019182 117019185 VAR_035504 + P06729:p.Cys217Tyr chr1 117023186 117023189 VAR_017104 + P06729:p.His266Gln chr1 117023405 117023408 VAR_033608 + P06729:p.His339Asn chr7 79930653 79930656 VAR_017913 + P16671:p.Pro90Ser chr7 79935114 79935117 VAR_017914 + P16671:p.Glu123Lys chr7 79935126 79935129 VAR_019049 + P16671:p.Ser127Leu chr7 79936986 79936989 VAR_013918 + P16671:p.Val154Phe chr7 79937046 79937049 VAR_017915 + P16671:p.Thr174Ala chr7 79938456 79938459 VAR_017916 + P16671:p.Gly232Gly chr7 79943930 79943933 VAR_017917 + P16671:p.Phe254Leu chr7 79943981 79943984 VAR_017918 + P16671:p.Ile271Thr chr7 79947358 79947361 VAR_017919 + P16671:p.Ile413Leu chr4 15502826 15502829 VAR_001323 + P28907:p.Arg140Trp chrX 135456032 135456035 VAR_007513 + P29965:p.Met36Arg chrX 135456038 135456041 VAR_017925 + P29965:p.Gly38Arg chrX 135462108 135462109 VAR_017929 + P29965:p.Gly116Arg chrX 135464034 135464036 VAR_017929 + P29965:p.Gly116Arg chrX 135462108 135462109 VAR_017930 + P29965:p.Gly116Ser chrX 135464034 135464036 VAR_017930 + P29965:p.Gly116Ser chrX 135464054 135464057 VAR_007514 + P29965:p.Ala123Glu chrX 135464060 135464063 VAR_017926 + P29965:p.His125Arg chrX 135464063 135464066 VAR_007515 + P29965:p.Val126Ala chrX 135464063 135464066 VAR_017931 + P29965:p.Val126Asp chrX 135464069 135464075 VAR_007516 + P29965:p.Ser128_Glu129delinsArgGly chrX 135466725 135466728 VAR_007517 + P29965:p.Trp140Cys chrX 135466725 135466728 VAR_007518 + P29965:p.Trp140Gly chrX 135466725 135466728 VAR_007519 + P29965:p.Trp140Arg chrX 135466734 135466737 VAR_017932 + P29965:p.Lys143Thr chrX 135466737 135466740 VAR_007520 + P29965:p.Gly144Glu chrX 135466746 135466749 VAR_017922 + P29965:p.Thr147Asn chrX 135466770 135466773 VAR_007521 + P29965:p.Leu155Pro chrX 135466815 135466818 VAR_017923 + P29965:p.Tyr170Cys chrX 135466824 135466827 VAR_017933 + P29965:p.Ala173Asp chrX 135466827 135466830 VAR_017927 + P29965:p.Gln174Arg chrX 135466833 135466836 VAR_017934 + P29965:p.Thr176Ile chrX 135466890 135466893 VAR_017935 + P29965:p.Leu195Pro chrX 135466929 135466932 VAR_017936 + P29965:p.Ala208Asp chrX 135466938 135466941 VAR_007522 + P29965:p.Thr211Asn chrX 135466962 135466965 VAR_007523 + P29965:p.Gly219Arg chrX 135466977 135466980 VAR_017937 + P29965:p.His224Tyr chrX 135466983 135466986 VAR_017938 + P29965:p.Gly226Ala chrX 135466986 135466989 VAR_007524 + P29965:p.Gly227Val chrX 135466986 135466989 VAR_007525 + P29965:p.227del chrX 135466998 135467001 VAR_007526 + P29965:p.Leu231Ser chrX 135467010 135467013 VAR_007527 + P29965:p.Ala235Pro chrX 135467016 135467019 VAR_017939 + P29965:p.Val237Glu chrX 135467067 135467070 VAR_007528 + P29965:p.Thr254Met chrX 135467076 135467079 VAR_017940 + P29965:p.Gly257Asp chrX 135467076 135467079 VAR_017928 + P29965:p.Gly257Ser chrX 135467079 135467082 VAR_017924 + P29965:p.Leu258Ser chr1 195413800 195413806 VAR_021205 + P08575:p.362_363del chr1 157467828 157467831 VAR_020082 - P09326:p.Glu102Gln chr12 6794382 6794385 VAR_023459 + P01730:p.Lys191Glu chr12 6795553 6795556 VAR_023460 + P01730:p.Phe227Ser chr12 6795667 6795670 VAR_003906 + P01730:p.Arg265Trp chr1 26330866 26330872 VAR_005130 + P31358:p.Asn40_Ile41delinsSerMet chr1 26330869 26330872 VAR_014838 + P31358:p.Ile41Met chr1 154618722 154618725 VAR_033728 - O43866:p.Asp117Glu chr11 60643487 60643490 VAR_020411 + P06127:p.Pro224Leu chr9 35602976 35602979 VAR_033729 - P21854:p.Pro234Leu chr6 14243371 14243374 VAR_033609 + Q01151:p.Arg182Gln chr2 86929178 86929181 VAR_021020 - P01732:p.Gly111Ser chr19 14373487 14373490 VAR_017760 + P48960:p.Arg367Gln chrX 2649621 2649624 VAR_014733 + P14209:p.Met166Val chrX 2649642 2649645 VAR_014734 + P14209:p.Asn173Ile chr1 43496958 43496961 VAR_030368 + Q12834:p.Val402Met chr1 43497827 43497830 VAR_030369 + Q12834:p.Arg479Gln chr17 42589309 42589312 VAR_035861 - P30260:p.Gly270Ala chr19 10363283 10363286 VAR_022220 - Q16543:p.Gly360Glu chr17 35703284 35703287 VAR_019349 + Q99741:p.Thr238Ala chr17 35703773 35703776 VAR_019350 + Q99741:p.Asp295Asn chr17 35703785 35703788 VAR_019351 + Q99741:p.Thr299Met chr17 35705181 35705184 VAR_019352 + Q99741:p.Arg378His chr17 35710676 35710679 VAR_019353 + Q99741:p.Val441Ile chr1 189825956 189825959 VAR_024082 + Q6P1J9:p.Leu64Pro chr1 189913259 189913262 VAR_031825 + Q6P1J9:p.Leu384Pro chr1 91679360 91679363 VAR_019255 + O00311:p.Gln23Pro chr1 91685934 91685937 VAR_019256 + O00311:p.Ile99Val chr1 91685973 91685975 VAR_019257 + O00311:p.Gly112Trp chr1 91689174 91689175 VAR_019257 + O00311:p.Gly112Trp chr1 91689412 91689415 VAR_019258 + O00311:p.Phe162Leu chr1 91690684 91690687 VAR_040403 + O00311:p.Ile208Met chr1 91690687 91690690 VAR_040404 + O00311:p.Glu209Asp chr1 91697847 91697850 VAR_019259 + O00311:p.Lys441Arg chr1 91701701 91701704 VAR_040405 + O00311:p.Thr472Ile chr1 91701779 91701782 VAR_040406 + O00311:p.Ser498Ala chr1 54318822 54318825 VAR_035162 - Q5VXM1:p.Gly244Arg chr1 20661006 20661009 VAR_021559 + P32320:p.Lys27Gln chr12 54647101 54647104 VAR_016157 + P24941:p.Tyr15Ser chr12 54647923 54647926 VAR_041972 + P24941:p.Pro45Leu chr12 54651646 54651649 VAR_019988 + P24941:p.Thr290Ser chr17 71510873 71510876 VAR_021101 + Q00526:p.Thr226Ile chr12 56431695 56431698 VAR_006200 - P11802:p.Arg24Cys chr12 56431695 56431698 VAR_006201 - P11802:p.Arg24His chr12 56431644 56431647 VAR_021152 - P11802:p.Asn41Ser chr12 56431364 56431367 VAR_029153 - P11802:p.Arg82Gln chr12 56431128 56431131 VAR_041976 - P11802:p.Arg122His chr5 68591478 68591481 VAR_023118 + P50613:p.Gly163Ala chr5 68604612 68604615 VAR_023119 + P50613:p.Thr285Met chr9 127629350 127629353 VAR_041982 + P50750:p.Phe59Leu chr9 127630462 127630465 VAR_013456 + P50750:p.Gly231Ala chrX 18359717 18359720 VAR_023560 + O76039:p.Cys152Phe chrX 18362098 18362101 VAR_023561 + O76039:p.Arg175Ser chrX 18362113 18362116 VAR_037635 + O76039:p.Pro180Leu chrX 18381802 18381805 VAR_036578 + O76039:p.Asn368His chrX 18381820 18381823 VAR_041997 + O76039:p.Ala374Thr chrX 18382420 18382423 VAR_041998 + O76039:p.Pro574Gln chrX 18390975 18390978 VAR_041999 + O76039:p.Thr734Ala chrX 18397737 18397740 VAR_023562 + O76039:p.Gln791Pro chrX 18402904 18402907 VAR_037636 + O76039:p.Val793Ala chrX 18431222 18431225 VAR_037637 + O76039:p.Val999Met chrX 18431294 18431297 VAR_042000 + O76039:p.Glu1023Gly chr14 53936442 53936444 VAR_013842 + Q16667:p.Trp31Arg chr14 53937991 53937992 VAR_013842 + Q16667:p.Trp31Arg chr14 53947989 53947992 VAR_013843 + Q16667:p.Phe78Leu chr14 53947992 53947995 VAR_013844 + Q16667:p.Cys79Tyr chr14 53948028 53948031 VAR_013845 + Q16667:p.Asn91Lys chr14 53948037 53948040 VAR_013846 + Q16667:p.Asp94Val chr14 53948040 53948043 VAR_013847 + Q16667:p.Leu95Phe chr14 53948079 53948082 VAR_013848 + Q16667:p.Ile108Val chr14 53956465 53956468 VAR_013849 + Q16667:p.Asn187Ser chr14 53956489 53956492 VAR_013850 + Q16667:p.Lys195Ile chr6 36759946 36759949 VAR_011870 + P38936:p.Ser31Arg chr6 36760300 36760301 VAR_014875 + P38936:p.Asp149Gly chr6 36761505 36761507 VAR_014875 + P38936:p.Asp149Gly chr12 12762082 12762085 VAR_011871 + P46527:p.Arg15Trp chr12 12762364 12762367 VAR_011872 + P46527:p.Val109Gly chr11 2862773 2862785 VAR_001404 - P49918:p.171_174del chr11 2862743 2862755 VAR_001405 - P49918:p.181_184del chr11 2862686 2862698 VAR_001406 - P49918:p.200_203del chr11 2862668 2862680 VAR_001407 - P49918:p.206_209del chr9 21998811 21998814 VAR_001488 - P42772:p.Gly47Glu chr9 21998802 21998805 VAR_001489 - P42772:p.Ala50Val chr1 51151669 51151672 VAR_001490 + P42773:p.Ala72Pro chr1 51151831 51151834 VAR_038604 + P42773:p.Thr126Met chr5 115179858 115179861 VAR_023536 - Q16878:p.Thr45Ile chr5 115170088 115170091 VAR_036170 - Q16878:p.Glu143Gln chr17 14080803 14080806 VAR_038121 - Q96T59:p.Arg24Gln chr4 85910179 85910182 VAR_036129 + Q92903:p.Lys204Thr chr16 87398721 87398724 VAR_029163 + Q9H211:p.Ala135Val chr16 87399373 87399376 VAR_029164 + Q9H211:p.Arg172Cys chr16 87401279 87401282 VAR_029165 + Q9H211:p.Glu456Ala chr16 87402154 87402157 VAR_024408 + Q9H211:p.Ala537Val chr5 149527019 149527022 VAR_020149 + P47902:p.Pro130Arg chr5 175649850 175649853 VAR_027568 + Q8NDZ2:p.Ser221Phe chr5 57826366 57826369 VAR_033673 + Q8N292:p.Ala83Thr chr5 139603153 139603156 VAR_034629 + Q9H1C7:p.Cys90Ser chr5 43541740 43541743 VAR_035618 - Q96MH7:p.Ser266Arg chr5 56245491 56245494 VAR_034876 + Q8NE22:p.Lys209Glu chr5 93885552 93885555 VAR_038391 - Q8IV33:p.Lys46Glu chr16 19455245 19455248 VAR_019823 + O43303:p.Ile252Met chr16 19455614 19455617 VAR_019824 + O43303:p.Met375Ile chr11 116727800 116727803 VAR_037511 + Q9UPV0:p.Ser94Asn chr12 87037531 87037534 VAR_028356 - O15078:p.Trp7Cys chr12 87003312 87003315 VAR_031058 - O15078:p.Lys838Glu chr12 87003018 87003021 VAR_031059 - O15078:p.Leu906Trp chr12 86985594 86985597 VAR_031060 - O15078:p.Arg1237His chr12 86974019 86974022 VAR_031061 - O15078:p.Ile1836Val chr19 46775687 46775690 VAR_034651 + Q3KPI0:p.Thr121Asn chr19 46777712 46777715 VAR_034652 + Q3KPI0:p.Met198Val chr19 46824151 46824154 VAR_038404 - O75871:p.His29Asp chr19 46824031 46824034 VAR_038405 - O75871:p.Lys69Arg chr19 46913272 46913275 VAR_031091 + P06731:p.Ala340Asp chr19 46916899 46916902 VAR_031092 + P06731:p.Arg664Ser chr19 46882696 46882699 VAR_024494 - Q14002:p.Phe120Ile chr19 47789614 47789617 VAR_011721 - P31997:p.Arg114Lys chr20 48241559 48241562 VAR_016300 + P17676:p.Gly195Ser chr2 37370316 37370319 VAR_031399 - Q03701:p.Pro15Ser chr2 37367077 37367080 VAR_031400 - Q03701:p.Lys303Arg chr22 16043858 16043861 VAR_029802 - Q9NZK5:p.His335Arg chr22 15993629 15993632 VAR_033674 - Q9BXW7:p.Arg369Ser chr19 3175929 3175932 VAR_033264 + Q8N6W0:p.Phe65Leu chr15 70369588 70369591 VAR_033265 - Q96J87:p.Arg152Pro chr22 45251594 45251597 VAR_016094 - Q9NYQ6:p.Ser664Trp chr22 45250208 45250211 VAR_016095 - Q9NYQ6:p.Cys1126Arg chr22 45106831 45106834 VAR_024479 - Q9NYQ6:p.Ile2107Val chr22 45101037 45101040 VAR_024480 - Q9NYQ6:p.Thr2268Ala chr1 109518354 109518357 VAR_024481 + Q9HCU4:p.Tyr1639His chr3 48674600 48674603 VAR_020022 - Q9NYQ7:p.Ala157Pro chr3 48672656 48672659 VAR_020023 - Q9NYQ7:p.Ser805Thr chr17 7186512 7186515 VAR_036178 + Q15027:p.Lys114Arg chr17 7187461 7187464 VAR_036179 + Q15027:p.Arg129Gln chr12 56417279 56417282 VAR_036183 - Q99490:p.Thr339Ala chr12 56414404 56414407 VAR_026438 - Q99490:p.Val455Ala chr12 56414103 56414106 VAR_022046 - Q99490:p.Gly507Ser chr12 56413024 56413027 VAR_026439 - Q99490:p.Arg518Gly chr12 56412542 56412545 VAR_026440 - Q99490:p.Thr568Ile chr12 56411858 56411861 VAR_026441 - Q99490:p.Ala651Val chr12 56410847 56410850 VAR_026442 - Q99490:p.Glu767Val chr2 236408221 236408224 VAR_026446 + Q9UPQ3:p.Ser82Gly chr2 236435386 236435389 VAR_026447 + Q9UPQ3:p.Asp148Gly chr2 236739821 236739824 VAR_026448 + Q9UPQ3:p.Val671Ile chr2 236814583 236814586 VAR_026449 + Q9UPQ3:p.Arg798Gly chr2 236814676 236814679 VAR_019550 + Q9UPQ3:p.Glu829Lys chr2 236814751 236814754 VAR_026450 + Q9UPQ3:p.Pro854Thr chr5 68521220 68521223 VAR_036167 + Q9H3R5:p.Glu2Lys chr1 170508130 170508133 VAR_027081 - Q8N0S6:p.Ile117Phe chr2 24934247 24934250 VAR_027420 + Q9BU64:p.Gln34Arg chr6 49547763 49547766 VAR_022857 + Q7L2Z9:p.Gly63Arg chr6 49567935 49567938 VAR_024303 + Q7L2Z9:p.Asp266Gly chr16 66423456 66423459 VAR_027421 - Q96BT3:p.Pro115Leu chr4 186012846 186012849 VAR_027145 - Q71F23:p.Ile157Thr chr4 186009292 186009295 VAR_027146 - Q71F23:p.Ile214Met chr10 95249966 95249969 VAR_026559 + Q53EZ4:p.His57Gln chr3 135760966 135760969 VAR_020604 + Q96MT8:p.Ser651Leu chr2 65208448 65208451 VAR_022363 + Q76N32:p.Gly74Ser chr3 139771917 139771920 VAR_021177 - Q8NHQ1:p.Ser135Asn chr9 14712613 14712616 VAR_021591 - O95813:p.Arg19Trp chr9 14712475 14712478 VAR_021592 - O95813:p.Ala65Gly chr9 14710354 14710357 VAR_021593 - O95813:p.Val179Ile chr16 55553434 55553437 VAR_017018 + P11597:p.Ala15Gly chr16 55561346 55561349 VAR_033098 + P11597:p.Arg154Trp chr16 55561388 55561391 VAR_033099 + P11597:p.Leu168Pro chr16 55564887 55564890 VAR_033100 + P11597:p.Arg299Cys chr16 55569512 55569515 VAR_013919 + P11597:p.Gly331Ser chr16 55572576 55572579 VAR_017019 + P11597:p.Val385Met chr16 55572591 55572594 VAR_013920 + P11597:p.Ala390Pro chr16 55573592 55573595 VAR_013921 + P11597:p.Val422Ile chr16 55574779 55574782 VAR_031127 + P11597:p.Val455Met chr16 55574791 55574794 VAR_004172 + P11597:p.Asp459Gly chr16 55574818 55574821 VAR_013922 + P11597:p.Arg468Gln chr16 55575052 55575055 VAR_013923 + P11597:p.Val486Met chr6 31187994 31187997 VAR_022907 - Q6UXA7:p.Leu40Phe chr6 31187985 31187988 VAR_022908 - Q6UXA7:p.Asn43Asp chr6 31187871 31187874 VAR_028732 - Q6UXA7:p.Val81Ala chr6 31187865 31187868 VAR_022909 - Q6UXA7:p.Ala83Pro chr6 31187679 31187682 VAR_028733 - Q6UXA7:p.Ala145Pro chr6 31187619 31187622 VAR_022910 - Q6UXA7:p.Lys165Glu chr6 31187241 31187244 VAR_028734 - Q6UXA7:p.Gly291Asp chr6 71345908 71345911 VAR_026890 + Q5VUM1:p.Gln46Arg chr6 127954388 127954391 VAR_033675 + Q6P5S2:p.Cys308Gly chr6 169994279 169994282 VAR_033300 + Q5T6L9:p.Ser540Gly chr6 151986452 151986455 VAR_028856 + Q8IYT3:p.Ala269Val chr6 151986617 151986620 VAR_028857 + Q8IYT3:p.Phe324Ser chr6 151986638 151986641 VAR_028858 + Q8IYT3:p.Ala331Thr chr6 152028790 152028793 VAR_028859 + Q8IYT3:p.Val604Ile chr6 152031294 152031297 VAR_028860 + Q8IYT3:p.Val683Ile chr6 147035136 147035139 VAR_025948 + Q8N7X0:p.Ile310Thr chr6 11831619 11831622 VAR_024365 - Q96IZ2:p.Val202Ile chr6 13578089 13578092 VAR_022995 - Q96JD4:p.Cys134Ser chr6 165684371 165684374 VAR_022887 - Q5T5N4:p.Ile256Met chr6 165677343 165677346 VAR_022888 - Q5T5N4:p.Val363Leu chr6 49627166 49627169 VAR_030643 + Q5SZD1:p.Pro235Leu chr6 53991800 53991803 VAR_033676 + Q5VWP3:p.Arg6His chr6 3672794 3672797 VAR_034644 - Q5TGL8:p.Pro189Gln chr6 3668938 3668941 VAR_035619 - Q5TGL8:p.Glu203Gln chr6 74212065 74212068 VAR_033677 - Q8N884:p.Pro261His chr6 7535621 7535624 VAR_033678 + Q6IEG0:p.Pro45Leu chr6 43100801 43100804 VAR_027786 + Q96EU6:p.Ala78Gly chr6 88182298 88182301 VAR_033679 + Q8IYR0:p.Arg154Lys chr6 88183140 88183143 VAR_033680 + Q8IYR0:p.Gly170Ala chr6 97788502 97788505 VAR_029013 - Q6ZRQ5:p.Asn419Asp chr6 97783837 97783840 VAR_029014 - Q6ZRQ5:p.Thr564Met chr6 97733093 97733096 VAR_029015 - Q6ZRQ5:p.Val875Ala chr6 97720018 97720021 VAR_029016 - Q6ZRQ5:p.Pro1015Leu chr6 128176626 128176629 VAR_027846 - Q8N1K5:p.Val284Gly chr6 128082529 128082532 VAR_027847 - Q8N1K5:p.Ile630Val chr6 130206380 130206383 VAR_033681 - Q5VVB8:p.Asn60Ile chr6 130196376 130196379 VAR_026549 - Q5VVB8:p.Phe80Leu chr6 130196358 130196361 VAR_026550 - Q5VVB8:p.Glu86Gly chr6 130194210 130194213 VAR_026551 - Q5VVB8:p.Phe111Val chr6 133146810 133146813 VAR_033185 - Q6NT16:p.Val204Ile chr6 118993993 118993996 VAR_034670 - Q5SZL2:p.Ser137Gly chr6 118993906 118993909 VAR_034671 - Q5SZL2:p.Asp166Val chr6 118993651 118993654 VAR_034672 - Q5SZL2:p.Pro251Thr chr6 118951761 118951764 VAR_036247 - Q5SZL2:p.Ser345Phe chr6 170018739 170018742 VAR_033682 + Q9H8X3:p.Ser27Cys chr6 170018931 170018934 VAR_024304 + Q9H8X3:p.Trp91Arg chr6 170019015 170019018 VAR_024305 + Q9H8X3:p.Lys119Arg chr6 151871657 151871660 VAR_025791 + Q9H993:p.Pro77Arg chr6 10538155 10538158 VAR_034646 - Q8N0U6:p.Tyr106Cys chr6 32022001 32022004 VAR_016274 + P00751:p.Leu9His chr6 32022145 32022148 VAR_006493 + P00751:p.Trp28Gln chr6 32022145 32022148 VAR_006492 + P00751:p.Trp28Arg chr6 32022157 32022160 VAR_006494 + P00751:p.Arg32Gln chr6 32022157 32022160 VAR_016275 + P00751:p.Arg32Trp chr6 32023592 32023595 VAR_016276 + P00751:p.Gly252Ser chr6 32026442 32026445 VAR_016277 + P00751:p.Lys565Glu chr6 32026994 32026997 VAR_016278 + P00751:p.Asp651Glu chr6 32027696 32027699 VAR_006495 + P00751:p.Ala736Ser chr1 193373889 193373892 VAR_023836 + P08603:p.Val62Ile chr1 193373937 193373940 VAR_025864 + P08603:p.Arg78Gly chr1 193376803 193376806 VAR_031978 + P08603:p.Arg127Leu chr1 193380459 193380462 VAR_031979 + P08603:p.224del chr1 193390887 193390890 VAR_031980 + P08603:p.Gln400Lys chr1 193390980 193390983 VAR_031981 + P08603:p.Cys431Ser chr1 193414661 193414664 VAR_043892 + P08603:p.Thr493Arg chr1 193416465 193416468 VAR_019405 + P08603:p.Cys536Arg chr1 193416510 193416513 VAR_025092 + P08603:p.Ile551Thr chr1 193425909 193425912 VAR_043893 + P08603:p.Arg567Gly chr1 193427270 193427273 VAR_025865 + P08603:p.Cys630Trp chr1 193427399 193427402 VAR_031982 + P08603:p.Cys673Ser chr1 193427399 193427402 VAR_031983 + P08603:p.Cys673Tyr chr1 193437744 193437747 VAR_025866 + P08603:p.Glu850Lys chr1 193438332 193438335 VAR_025093 + P08603:p.Ser890Ile chr1 193438341 193438344 VAR_031984 + P08603:p.His893Arg chr1 193438407 193438410 VAR_031985 + P08603:p.Cys915Ser chr1 193441428 193441431 VAR_020261 + P08603:p.Glu936Asp chr1 193441470 193441473 VAR_025867 + P08603:p.Gln950His chr1 193441473 193441476 VAR_025868 + P08603:p.Tyr951His chr1 193441488 193441491 VAR_025869 + P08603:p.Thr956Met chr1 193441497 193441500 VAR_019406 + P08603:p.Cys959Tyr chr1 193441554 193441557 VAR_025870 + P08603:p.Trp978Cys chr1 193442723 193442726 VAR_025094 + P08603:p.Val1007Ile chr1 193442723 193442726 VAR_043894 + P08603:p.Val1007Leu chr1 193442753 193442756 VAR_025095 + P08603:p.Thr1017Ile chr1 193442765 193442768 VAR_025871 + P08603:p.Tyr1021Phe chr1 193442831 193442834 VAR_025872 + P08603:p.Cys1043Arg chr1 193444252 193444255 VAR_025096 + P08603:p.Asn1050Tyr chr1 193444279 193444282 VAR_025097 + P08603:p.Ile1059Thr chr1 193444330 193444333 VAR_025873 + P08603:p.Gln1076Glu chr1 193444336 193444339 VAR_043895 + P08603:p.Arg1078Ser chr1 193446647 193446650 VAR_025874 + P08603:p.Asp1119Gly chr1 193446692 193446695 VAR_025875 + P08603:p.Val1134Gly chr1 193446716 193446719 VAR_025876 + P08603:p.Tyr1142Asp chr1 193446719 193446722 VAR_043896 + P08603:p.Gln1143Glu chr1 193446761 193446764 VAR_025877 + P08603:p.Trp1157Arg chr1 193446779 193446782 VAR_025878 + P08603:p.Cys1163Trp chr1 193447950 193447953 VAR_025879 + P08603:p.Trp1183Leu chr1 193447950 193447953 VAR_025880 + P08603:p.Trp1183Arg chr1 193447953 193447956 VAR_025881 + P08603:p.Thr1184Arg chr1 193447968 193447971 VAR_019407 + P08603:p.Leu1189Arg chr1 193447974 193447977 VAR_019408 + P08603:p.Ser1191Leu chr1 193447983 193447986 VAR_025882 + P08603:p.Gly1194Asp chr1 193447992 193447995 VAR_025883 + P08603:p.Val1197Ala chr1 193447995 193447998 VAR_025884 + P08603:p.Glu1198Ala chr1 193447998 193448001 VAR_031986 + P08603:p.Phe1199Ser chr1 193448031 193448034 VAR_025885 + P08603:p.Arg1210Cys chr1 193448046 193448049 VAR_025886 + P08603:p.Arg1215Gly chr1 193448046 193448049 VAR_025887 + P08603:p.Arg1215Gln chr1 193448076 193448097 VAR_019409 + P08603:p.Tyr1225_Arg1231delinsPheGlnSer chr1 193448079 193448082 VAR_025888 + P08603:p.Pro1226Ser chr4 111039325 111039328 VAR_034907 - P05156:p.Gly243Asp chr2 130996678 130996681 VAR_024323 + Q9GZR3:p.Arg112Cys chr2 131001590 131001593 VAR_024324 + Q9GZR3:p.Arg189Cys chr7 2367246 2367249 VAR_031202 - Q6PJG6:p.Arg20Gly chr7 39383416 39383419 VAR_024306 + Q9NRH1:p.Lys68Glu chr7 129449787 129449790 VAR_029873 + Q8WWF3:p.Arg88Trp chr19 54239287 54239290 VAR_014585 + P01233:p.Phe4Leu chr19 54239681 54239684 VAR_015231 + P01233:p.Thr18Ala chr19 54239693 54239696 VAR_014586 + P01233:p.Lys22Arg chr19 54239699 54239702 VAR_015232 + P01233:p.Pro24Met chr19 54239711 54239714 VAR_015233 + P01233:p.Arg28Trp chr19 54239717 54239720 VAR_015234 + P01233:p.Arg30His chr19 54239732 54239735 VAR_014587 + P01233:p.Thr35Ile chr19 54240153 54240156 VAR_014588 + P01233:p.Asn97Asp chr19 54240273 54240276 VAR_003188 + P01233:p.Asp137Ala chr19 54240303 54240306 VAR_015235 + P01233:p.Ser147Cys chr1 70593689 70593692 VAR_015450 + P32929:p.Thr67Ile chr1 70608091 70608094 VAR_015451 + P32929:p.Gln240Glu chr1 70616819 70616822 VAR_015452 + P32929:p.Ser403Ile chr8 11018994 11018997 VAR_022864 - Q8TCU8:p.Arg6His chr8 144195982 144195985 VAR_033150 + Q8N9H6:p.Leu39Pro chr8 96350536 96350539 VAR_033683 - Q96NL8:p.Pro19Ala chr8 33489484 33489487 VAR_030886 - Q6NXR4:p.Glu63Gly chr8 99170595 99170598 VAR_033176 + Q6P6B1:p.Arg59His chr8 99171150 99171153 VAR_033177 + Q6P6B1:p.Gln244Pro chr8 99171279 99171282 VAR_033178 + Q6P6B1:p.His287Arg chr8 11656571 11656574 VAR_029850 + Q96NF6:p.Ile81Val chr8 11656613 11656616 VAR_029851 + Q96NF6:p.Arg95Gly chr8 1720825 1720828 VAR_029855 + Q8N8I7:p.Gly128Ser chr8 146199425 146199428 VAR_032035 + Q0IIN9:p.Leu84Ile chr8 12854035 12854038 VAR_029820 + Q8N9K7:p.Gln18His chr8 12892789 12892792 VAR_029821 + Q8N9K7:p.Ser111Thr chr8 27981120 27981123 VAR_034824 - Q68CJ6:p.Ser180Gly chr8 27958986 27958989 VAR_034826 - Q68CJ6:p.Ser474Asn chr1 199884455 199884458 VAR_019838 - P36222:p.Arg145Gly chr1 199880623 199880626 VAR_019839 - P36222:p.Ile311Thr chr1 111490371 111490374 VAR_033731 + Q15782:p.Val184Ile chr2 198187502 198187505 VAR_026748 - P10809:p.Val98Ile chr2 53913001 53913004 VAR_038123 + Q8WUX2:p.Arg82Gly chr17 45897687 45897690 VAR_030631 - O15335:p.Thr350Ile chr3 127934634 127934637 VAR_024412 + Q9BRQ6:p.Ala95Ser chr1 6162547 6162550 VAR_035475 - Q8TDI0:p.Val45Met chr1 6153691 6153694 VAR_035476 - Q8TDI0:p.Asp119Asn chr1 6138190 6138193 VAR_035477 - Q8TDI0:p.Arg667Gly chr20 39478644 39478647 VAR_023363 - Q8TD26:p.His2161Gln chr3 53832955 53832958 VAR_020421 - Q8NE62:p.Glu40Ala chr12 132056675 132056678 VAR_017582 - Q96EP1:p.Pro166Leu chr12 132056567 132056570 VAR_017583 - Q96EP1:p.Arg202Pro chr12 132046140 132046143 VAR_017584 - Q96EP1:p.Gly270Arg chr12 132040406 132040409 VAR_038192 - Q96EP1:p.Ala456Val chr12 132038590 132038593 VAR_017585 - Q96EP1:p.Ala497Val chr12 132035580 132035583 VAR_017586 - Q96EP1:p.Phe536Ser chr12 132034009 132034012 VAR_017587 - Q96EP1:p.Val580Met chr1 111573837 111573840 VAR_033730 + Q9BZP6:p.Val324Gly chr11 860465 860468 VAR_031173 - Q9BWS9:p.Arg331Gln chr11 860444 860447 VAR_031174 - Q9BWS9:p.Ala338Val chr7 29293167 29293170 VAR_022118 + P52757:p.His204Arg chr1 199925840 199925843 VAR_022138 - Q13231:p.Gly102Ser chr1 199917748 199917751 VAR_024458 - Q13231:p.Ala442Gly chr11 125008308 125008311 VAR_021123 + O14757:p.Arg156Gln chr11 125010586 125010589 VAR_040407 + O14757:p.Glu223Val chr11 125019205 125019208 VAR_040408 + O14757:p.Val312Met chr22 27455212 27455215 VAR_019101 - O96017:p.Ala17Ser chr22 27455086 27455089 VAR_026630 - O96017:p.Thr59Lys chr22 27455071 27455074 VAR_019107 - O96017:p.Glu64Lys chr22 27455008 27455011 VAR_019102 - O96017:p.Pro85Leu chr22 27445877 27445880 VAR_022461 - O96017:p.Arg117Gly chr22 27445817 27445820 VAR_022462 - O96017:p.Arg137Gln chr22 27445793 27445796 VAR_019108 - O96017:p.Arg145Pro chr22 27445793 27445796 VAR_008554 - O96017:p.Arg145Trp chr22 27445639 27445642 VAR_008555 - O96017:p.Ile157Thr chr22 27445609 27445612 VAR_019109 - O96017:p.Gly167Arg chr22 27445570 27445573 VAR_019103 - O96017:p.Arg180Cys chr22 27445570 27445573 VAR_019110 - O96017:p.Arg180His chr22 27445567 27445570 VAR_019104 - O96017:p.Arg181Cys chr22 27445567 27445570 VAR_019105 - O96017:p.Arg181His chr22 27432525 27432528 VAR_019106 - O96017:p.Glu239Lys chr22 27432489 27432492 VAR_019111 - O96017:p.Ile251Phe chr22 27420433 27420436 VAR_019112 - O96017:p.Arg318His chr22 27420418 27420421 VAR_019113 - O96017:p.Thr323Pro chr22 27420406 27420409 VAR_019114 - O96017:p.Tyr327Cys chr22 27417496 27417499 VAR_029154 - O96017:p.Asp347Asn chr22 27416292 27416295 VAR_024572 - O96017:p.Arg406His chr3 336507 336510 VAR_027167 + O00533:p.Leu17Phe chr3 377079 377082 VAR_035505 + O00533:p.Leu411Ile chr3 167031427 167031430 VAR_040011 - P06276:p.32del chr3 167031367 167031370 VAR_040012 - P06276:p.Thr52Met chr3 167031355 167031358 VAR_040013 - P06276:p.Phe56Ile chr3 167031340 167031343 VAR_040014 - P06276:p.Tyr61Cys chr3 167031328 167031331 VAR_040015 - P06276:p.Pro65Ser chr3 167031229 167031232 VAR_002360 - P06276:p.Asp98Gly chr3 167031229 167031232 VAR_040016 - P06276:p.Asp98His chr3 167031151 167031154 VAR_040017 - P06276:p.Asn124Tyr chr3 167031139 167031142 VAR_040018 - P06276:p.Pro128Ser chr3 167031094 167031097 VAR_040019 - P06276:p.Gly143Asp chr3 167031064 167031067 VAR_040020 - P06276:p.Leu153Phe chr3 167031055 167031058 VAR_040021 - P06276:p.Tyr156Cys chr3 167031013 167031016 VAR_040022 - P06276:p.Val170Met chr3 167030929 167030932 VAR_040023 - P06276:p.Asp198Glu chr3 167030845 167030848 VAR_040024 - P06276:p.Ser226Gly chr3 167030842 167030845 VAR_040025 - P06276:p.Ala227Val chr3 167030836 167030839 VAR_040026 - P06276:p.Ala229Thr chr3 167030710 167030713 VAR_040027 - P06276:p.Thr271Met chr3 167030689 167030692 VAR_040028 - P06276:p.Thr278Pro chr3 167030674 167030677 VAR_040029 - P06276:p.Glu283Asp chr3 167030638 167030641 VAR_040030 - P06276:p.Lys295Arg chr3 167030518 167030521 VAR_040031 - P06276:p.Leu335Pro chr3 167030455 167030458 VAR_040032 - P06276:p.Ala356Asp chr3 167030449 167030452 VAR_002362 - P06276:p.Leu358Ile chr3 167030344 167030347 VAR_040033 - P06276:p.Gly393Arg chr3 167030281 167030284 VAR_040034 - P06276:p.Arg414Cys chr3 167030269 167030272 VAR_040035 - P06276:p.Gly418Val chr3 167030185 167030188 VAR_040036 - P06276:p.Phe446Ser chr3 167030059 167030062 VAR_040037 - P06276:p.Glu488Lys chr3 167030026 167030029 VAR_040038 - P06276:p.Trp499Arg chr3 167030017 167030020 VAR_040039 - P06276:p.Phe502Leu chr3 166986743 166986746 VAR_040040 - P06276:p.Glu525Val chr3 166986689 166986692 VAR_040041 - P06276:p.Arg543Cys chr3 166986680 166986683 VAR_040042 - P06276:p.Gln546Leu chr3 166973979 166973982 VAR_002364 - P06276:p.Ala567Thr chr3 87372588 87372591 VAR_038373 + Q9UQN3:p.Ile29Val chr3 87385260 87385263 VAR_023383 + Q9UQN3:p.Asp148Tyr chr3 87385635 87385638 VAR_038374 + Q9UQN3:p.Gln206His chr20 31902434 31902437 VAR_037579 + Q9H444:p.Asp129Val chr20 31902530 31902533 VAR_037580 + Q9H444:p.Glu161Lys chr12 100610811 100610814 VAR_032612 + Q8WUD6:p.Phe162Ser chr12 100619994 100619997 VAR_032613 + Q8WUD6:p.Tyr323Ser chr8 141593664 141593667 VAR_013755 + Q9NRG0:p.Cys55Tyr chr8 141594507 141594510 VAR_013756 + Q9NRG0:p.His126Arg chr3 185586604 185586607 VAR_021517 + Q9H2X0:p.Met630Leu chr15 99536447 99536450 VAR_021173 - Q86X52:p.Pro359Ser chr15 99535568 99535571 VAR_028009 - Q86X52:p.Gln652His chr5 129548576 129548579 VAR_027540 + Q70JA7:p.Gly615Glu chr5 129549023 129549026 VAR_021174 + Q70JA7:p.Asp764Gly chr10 73437704 73437707 VAR_021413 + Q7LGC8:p.Arg304Gln chr10 73437836 73437839 VAR_021414 + Q7LGC8:p.Ile348Met chr10 73437863 73437866 VAR_021415 + Q7LGC8:p.Arg357Gln chr16 74071182 74071185 VAR_021417 - Q9GZX3:p.Leu15Pro chr16 74071161 74071164 VAR_021418 - Q9GZX3:p.Leu22Arg chr16 74071134 74071137 VAR_021419 - Q9GZX3:p.Pro31Ser chr16 74071101 74071104 VAR_021420 - Q9GZX3:p.His42Tyr chr16 74071077 74071080 VAR_021421 - Q9GZX3:p.Arg50Cys chr16 74071074 74071077 VAR_021422 - Q9GZX3:p.Ser51Leu chr16 74071071 74071074 VAR_021423 - Q9GZX3:p.Gly52Asp chr16 74071068 74071071 VAR_021424 - Q9GZX3:p.Ser53Leu chr16 74071050 74071053 VAR_021425 - Q9GZX3:p.Leu59Pro chr16 74071044 74071047 VAR_021426 - Q9GZX3:p.Asn61Thr chr16 74071029 74071032 VAR_021427 - Q9GZX3:p.Val66Leu chr16 74071023 74071026 VAR_021428 - Q9GZX3:p.Tyr68His chr16 74071017 74071020 VAR_021429 - Q9GZX3:p.Met70Leu chr16 74071011 74071014 VAR_021430 - Q9GZX3:p.Pro72Ser chr16 74070999 74071002 VAR_021431 - Q9GZX3:p.Val76Met chr16 74070948 74070951 VAR_021432 - Q9GZX3:p.Arg93His chr16 74070936 74070939 VAR_021433 - Q9GZX3:p.Arg97Pro chr16 74070933 74070936 VAR_021434 - Q9GZX3:p.Ser98Trp chr16 74070921 74070924 VAR_021435 - Q9GZX3:p.Cys102Gly chr16 74070921 74070924 VAR_021436 - Q9GZX3:p.Cys102Tyr chr16 74070915 74070918 VAR_021437 - Q9GZX3:p.Met104Val chr16 74070906 74070909 VAR_021438 - Q9GZX3:p.Phe107Ser chr16 74070897 74070900 VAR_021439 - Q9GZX3:p.Tyr110Cys chr16 74070864 74070867 VAR_021440 - Q9GZX3:p.Phe121Leu chr16 74070861 74070864 VAR_021441 - Q9GZX3:p.Gln122Pro chr16 74070846 74070849 VAR_021442 - Q9GZX3:p.Arg127Cys chr16 74070843 74070846 VAR_021443 - Q9GZX3:p.Ala128Val chr16 74070834 74070837 VAR_021444 - Q9GZX3:p.Ser131Pro chr16 74070771 74070774 VAR_021445 - Q9GZX3:p.Leu152Pro chr16 74070741 74070744 VAR_021446 - Q9GZX3:p.Arg162Gly chr16 74070729 74070732 VAR_021447 - Q9GZX3:p.Arg166Pro chr16 74070705 74070708 VAR_021448 - Q9GZX3:p.Lys174Arg chr16 74070696 74070699 VAR_021449 - Q9GZX3:p.Arg177His chr16 74070633 74070636 VAR_021450 - Q9GZX3:p.Val198Glu chr16 74070627 74070630 VAR_021451 - Q9GZX3:p.Leu200Arg chr16 74070621 74070624 VAR_021452 - Q9GZX3:p.Arg202Ser chr16 74070618 74070621 VAR_021453 - Q9GZX3:p.Asp203Glu chr16 74070615 74070618 VAR_021454 - Q9GZX3:p.Pro204Gln chr16 74070612 74070615 VAR_021455 - Q9GZX3:p.Arg205Leu chr16 74070612 74070615 VAR_021456 - Q9GZX3:p.Arg205Gln chr16 74070609 74070612 VAR_021457 - Q9GZX3:p.Ala206Thr chr16 74070609 74070612 VAR_021458 - Q9GZX3:p.Ala206Val chr16 74070597 74070600 VAR_021459 - Q9GZX3:p.Ser210Phe chr16 74070594 74070597 VAR_021460 - Q9GZX3:p.Arg211Gln chr16 74070594 74070597 VAR_021461 - Q9GZX3:p.Arg211Trp chr16 74070576 74070579 VAR_021462 - Q9GZX3:p.Ala217Thr chr16 74070564 74070567 VAR_021463 - Q9GZX3:p.Asp221Glu chr16 74070564 74070567 VAR_021464 - Q9GZX3:p.Asp221Tyr chr16 74070480 74070483 VAR_021465 - Q9GZX3:p.His249Pro chr16 74070423 74070426 VAR_021466 - Q9GZX3:p.Tyr268Cys chr16 74070405 74070408 VAR_021467 - Q9GZX3:p.Glu274Lys chr16 74070399 74070402 VAR_021468 - Q9GZX3:p.Leu276Pro chr16 74070153 74070156 VAR_021469 - Q9GZX3:p.Tyr358Asp chr16 74070120 74070123 VAR_033735 - Q9GZX3:p.Asn369Asp chr2 100481595 100481598 VAR_033737 - O43529:p.Val20Leu chr2 100468521 100468524 VAR_021470 - O43529:p.Asp258Asn chr7 2245668 2245671 VAR_021471 + Q9NRB3:p.Pro52His chr7 2245695 2245698 VAR_021472 + Q9NRB3:p.Thr61Ser chr7 2245794 2245797 VAR_033738 + Q9NRB3:p.Pro94Leu chr7 2245839 2245842 VAR_021473 + Q9NRB3:p.Arg109Ser chr7 2245947 2245950 VAR_021474 + Q9NRB3:p.Ala145Pro chr3 127743903 127743906 VAR_021475 + Q8NET6:p.Ala271Glu chr3 127743903 127743906 VAR_021476 + Q8NET6:p.Ala271Gly chr3 127743903 127743906 VAR_021477 + Q8NET6:p.Ala271Val chr3 127744041 127744044 VAR_021478 + Q8NET6:p.Arg317Gln chr9 129457452 129457455 VAR_033220 - Q5SZB4:p.Arg248Lys chr9 129455374 129455377 VAR_033221 - Q5SZB4:p.Arg312Gln chr9 129454984 129454987 VAR_033222 - Q5SZB4:p.Arg381Gln chr9 129454230 129454233 VAR_033223 - Q5SZB4:p.Lys415Arg chr9 87729958 87729961 VAR_022858 + Q6ZUB1:p.Thr335Pro chr9 87730999 87731002 VAR_022859 + Q6ZUB1:p.Asp682Glu chr9 87731065 87731068 VAR_022860 + Q6ZUB1:p.Asp704Glu chr9 87732559 87732562 VAR_022861 + Q6ZUB1:p.Asp1202Gly chr9 87733003 87733006 VAR_022862 + Q6ZUB1:p.Arg1350His chr9 132783181 132783184 VAR_030873 - Q96MA6:p.Ile5Thr chr9 132759809 132759812 VAR_030874 - Q96MA6:p.Asp130Gly chr9 35652249 35652252 VAR_032876 - Q8N4T4:p.His306Arg chr9 128668440 128668443 VAR_026552 - Q5T280:p.Thr130Arg chr9 128664621 128664624 VAR_026553 - Q5T280:p.Ile369Thr chr9 137205271 137205274 VAR_031749 + Q6ZV77:p.Lys168Glu chr9 12765852 12765861 VAR_028154 + Q8IV03:p.47_49del chr9 136654749 136654752 VAR_032526 + Q8N9P6:p.Leu5Pro chr15 39476522 39476525 VAR_013559 - Q9Y375:p.Arg9His chr15 39476456 39476459 VAR_013560 - Q9Y375:p.Arg31Leu chr15 39476021 39476024 VAR_013561 - Q9Y375:p.Glu176Lys chr15 39466975 39466978 VAR_013562 - Q9Y375:p.Ala314Gly chr15 88576517 88576520 VAR_019565 - Q99828:p.Ser44Thr chr19 47483089 47483092 VAR_035936 + Q96RK0:p.Glu104Lys chr19 47486713 47486716 VAR_035937 + Q96RK0:p.Ala652Thr chr19 47488134 47488137 VAR_028302 + Q96RK0:p.Ser982Gly chr6 112019760 112019763 VAR_031227 - O43734:p.Arg83Trp chr15 63282799 63282802 VAR_022769 - O75339:p.Ser327Phe chr15 63281263 63281266 VAR_022770 - O75339:p.Ile395Thr chr15 63276991 63276994 VAR_022772 - O75339:p.Ala895Val chr15 63276373 63276376 VAR_022774 - O75339:p.Asp1101Asn chr15 63276172 63276175 VAR_022776 - O75339:p.Val1168Ala chr10 102674368 102674371 VAR_023112 + Q8IX21:p.Ser541Tyr chr10 77754188 77754191 VAR_033686 + Q9H2I8:p.Ser153Phe chr10 98731281 98731284 VAR_033687 + Q8N655:p.Asn49Ser chr10 98732076 98732079 VAR_033688 + Q8N655:p.Leu314Pro chr10 98732337 98732340 VAR_033689 + Q8N655:p.Pro401Ala chr10 98732739 98732742 VAR_033690 + Q8N655:p.Ile535Leu chr10 5828612 5828615 VAR_034838 + Q5VWN6:p.Arg1075Pro chr10 5830424 5830427 VAR_034839 + Q5VWN6:p.Val1679Ala chr10 5844535 5844538 VAR_034840 + Q5VWN6:p.Ser2404Asn chr10 100140352 100140355 VAR_026877 - Q8N2H3:p.Pro428Ser chr10 100138164 100138167 VAR_026878 - Q8N2H3:p.Met461Thr chr10 100134769 100134772 VAR_026879 - Q8N2H3:p.Ala533Thr chr10 15296197 15296200 VAR_030220 - Q5VUB5:p.Pro465Ser chr10 11952336 11952339 VAR_023097 + Q86WR7:p.Ala412Val chr10 80875073 80875076 VAR_030249 - Q8N2G6:p.Glu43Val chr10 99340004 99340007 VAR_030216 + Q5T681:p.Glu121Asp chr10 49603979 49603982 VAR_027684 + Q6ZS81:p.Ser214Pro chr10 49653823 49653826 VAR_027685 + Q6ZS81:p.Ser944Phe chr10 33177555 33177558 VAR_024308 + Q9H943:p.Met510Thr chr10 49985897 49985900 VAR_030291 - Q8IW00:p.Phe68Ser chr10 49985801 49985804 VAR_035539 - Q8IW00:p.Arg100His chr10 105872753 105872756 VAR_023098 + Q86XK3:p.Asp81Gly chr10 134111546 134111549 VAR_033694 + Q5T1B1:p.Glu144Gly chr10 134496975 134496978 VAR_023208 - Q8IYW2:p.Ala492Thr chr10 134473946 134473949 VAR_023209 - Q8IYW2:p.Ser701Gly chr10 21454895 21454898 VAR_028801 - Q5VZT2:p.Asp100His chr10 21824726 21824729 VAR_033739 - Q5T4H9:p.Arg73Pro chr10 115912762 115912765 VAR_023047 - Q7Z3E2:p.Thr85Ile chr10 115912480 115912483 VAR_023048 - Q7Z3E2:p.Arg179Gln chr10 115900915 115900918 VAR_023049 - Q7Z3E2:p.Gln271Lys chr10 50043836 50043839 VAR_035409 - Q5T292:p.Pro83Leu chr11 67786747 67786750 VAR_027713 - Q96F05:p.Gly97Val chr11 67786588 67786591 VAR_027714 - Q96F05:p.Ala150Thr chr11 3199533 3199536 VAR_027707 + Q2M3A8:p.Glu6Ala chr11 3199920 3199923 VAR_027708 + Q2M3A8:p.Ser135Phe chr11 3199941 3199944 VAR_027709 + Q2M3A8:p.Gly142Val chr11 4551119 4551122 VAR_029581 - Q8WZ69:p.Phe100Ser chr11 6188306 6188309 VAR_026831 + Q8N5U0:p.Pro242Ser chr11 30311099 30311102 VAR_033740 + Q8N8R7:p.Thr180Pro chr11 111300293 111300296 VAR_029587 + Q96A22:p.Thr23Arg chr11 6195534 6195537 VAR_028740 - Q8N612:p.Arg619Leu chr11 6192670 6192673 VAR_028741 - Q8N612:p.Gln754His chr11 107781376 107781379 VAR_029599 - Q8NCR3:p.Trp183Leu chr11 107769149 107769152 VAR_029600 - Q8NCR3:p.Phe242Leu chr11 61010415 61010418 VAR_030271 + Q7Z5V6:p.Thr238Asn chr11 61013929 61013932 VAR_030272 + Q7Z5V6:p.Ser382Thr chr11 33650924 33650927 VAR_033741 + Q8TAY4:p.Gln69His chr11 67129050 67129053 VAR_029584 - Q8NBR9:p.Pro22Thr chr11 85695042 85695045 VAR_026968 + Q53FT3:p.Pro47Ala chr12 105136033 105136036 VAR_027853 - Q07065:p.Ala348Thr chr16 65171507 65171510 VAR_022154 + Q8TAZ6:p.Ile122Thr chr12 26968677 26968680 VAR_035673 - Q9NVM9:p.Ser227Pro chr12 89849850 89849853 VAR_032512 - Q8TC90:p.Ile379Met chr12 109388437 109388440 VAR_032513 + Q8WUB2:p.Arg225Gly chr12 48280498 48280501 VAR_027777 - Q8IYM0:p.Val397Met chr12 48280030 48280033 VAR_027778 - Q8IYM0:p.Glu553Gln chr12 68616621 68616624 VAR_033742 + Q96LU7:p.Ser88Leu chr12 68632191 68632194 VAR_027780 + Q96LU7:p.Ala118Ser chr12 86931959 86931962 VAR_035197 + Q8N999:p.Pro23Leu chr12 86943143 86943146 VAR_035198 + Q8N999:p.Val238Leu chr12 110943618 110943621 VAR_035872 - Q14CX7:p.Ser789Arg chr12 110939773 110939776 VAR_033156 - Q14CX7:p.Lys876Arg chr12 13420492 13420495 VAR_030221 - Q495D7:p.Pro38Leu chr12 13417593 13417596 VAR_030222 - Q495D7:p.Ala76Glu chr12 13417569 13417572 VAR_030223 - Q495D7:p.Ile84Val chr12 102202303 102202306 VAR_030230 - Q96LP6:p.Pro182Arg chr12 119916865 119916868 VAR_030491 - Q96C57:p.Gly44Arg chr12 115623694 115623697 VAR_033154 - Q9H741:p.Gln55Arg chr12 86882560 86882563 VAR_033266 - Q8NA57:p.Gln306Arg chr12 86882254 86882257 VAR_033267 - Q8NA57:p.Arg322His chr12 112092189 112092192 VAR_033175 + Q96K30:p.Thr220Lys chr12 95581353 95581356 VAR_029606 + Q6ZTY8:p.Gly387Ser chr12 95616698 95616701 VAR_029609 + Q6ZTY8:p.Glu710Lys chr12 95638684 95638687 VAR_029610 + Q6ZTY8:p.Val783Ala chr12 95660399 95660402 VAR_029612 + Q6ZTY8:p.Pro1107His chr12 122266356 122266359 VAR_037325 + Q9H3J6:p.Ala134Thr chr12 10054640 10054643 VAR_037670 + Q2HXU8:p.Thr6Asn chr12 10058543 10058546 VAR_037671 + Q2HXU8:p.Val116Leu chr10 50494624 50494627 VAR_011675 + P28329:p.Ala120Thr chr10 50498594 50498597 VAR_011666 + P28329:p.Leu210Pro chr10 50498597 50498600 VAR_011667 + P28329:p.Pro211Ala chr10 50503684 50503687 VAR_011668 + P28329:p.Ile305Thr chr10 50505731 50505734 VAR_038605 + P28329:p.Ile336Thr chr10 50524618 50524621 VAR_011676 + P28329:p.Ala392Gly chr10 50524702 50524705 VAR_011669 + P28329:p.Arg420Cys chr10 50526597 50526600 VAR_011670 + P28329:p.Glu441Lys chr10 50527620 50527623 VAR_011671 + P28329:p.Arg482Gly chr10 50527668 50527671 VAR_011672 + P28329:p.Ser498Leu chr10 50529939 50529942 VAR_011673 + P28329:p.Val506Leu chr10 50533189 50533192 VAR_011674 + P28329:p.Arg560His chr17 6922118 6922121 VAR_021262 - Q8IUN9:p.Cys35Arg chr12 10042906 10042909 VAR_031047 - Q9P126:p.Ile20Val chr12 10042238 10042241 VAR_031048 - Q9P126:p.Ser24Pro chr12 10042226 10042229 VAR_031049 - Q9P126:p.Ser28Phe chr12 10041116 10041119 VAR_031050 - Q9P126:p.Gly64Asp chr12 9713651 9713654 VAR_038172 + Q9UHP7:p.Asn19Lys chr12 9724790 9724793 VAR_038173 + Q9UHP7:p.Leu23Val chr12 8169446 8169449 VAR_021260 + Q9UMR7:p.His36Leu chr12 8559163 8559166 VAR_021261 + Q8WXI8:p.Ser32Gly chr1 109192019 109192022 VAR_034673 - Q96S66:p.Ser368Arg chr11 66889269 66889272 VAR_028354 - Q9UBD9:p.Arg197Leu chr1 16095632 16095635 VAR_033768 + P51800:p.Arg45His chr1 16095698 16095701 VAR_030784 + P51800:p.Met67Ile chr1 16096580 16096583 VAR_019787 + P51800:p.Arg83Gly chr1 16099698 16099701 VAR_033769 + P51800:p.Ala287Val chr1 16099894 16099897 VAR_019788 + P51800:p.Tyr315Phe chr1 16101806 16101809 VAR_014465 + P51800:p.Ala447Thr chr1 16116302 16116305 VAR_033770 + P51801:p.Phe4Leu chr1 16118367 16118370 VAR_014466 + P51801:p.Ser88Arg chr1 16118415 16118418 VAR_033771 + P51801:p.Val104Ile chr1 16119716 16119719 VAR_001624 + P51801:p.Pro124Leu chr1 16119773 16119776 VAR_014467 + P51801:p.Asn143His chr1 16120337 16120340 VAR_001625 + P51801:p.Ala204Thr chr1 16122347 16122350 VAR_014468 + P51801:p.Val334Leu chr1 16122392 16122395 VAR_001626 + P51801:p.Ala349Asp chr1 16123305 16123308 VAR_033773 + P51801:p.Ile419Val chr1 16123344 16123347 VAR_001627 + P51801:p.Tyr432His chr1 16123524 16123527 VAR_001628 + P51801:p.Arg438Cys chr3 185553298 185553300 VAR_015989 - P51788:p.Gly715Glu chr3 185553522 185553523 VAR_015989 - P51788:p.Gly715Glu chrX 49537703 49537706 VAR_001615 + P51795:p.Arg30Arg chrX 49540242 49540245 VAR_001616 + P51795:p.Gly57Val chrX 49549414 49549417 VAR_001617 + P51795:p.Leu200Arg chrX 49553678 49553681 VAR_001618 + P51795:p.Ser244Leu chrX 49554053 49554056 VAR_001619 + P51795:p.Arg280Pro chrX 49556558 49556561 VAR_001620 + P51795:p.Gly506Glu chrX 49556576 49556577 VAR_001621 + P51795:p.Gly512Arg chrX 49557808 49557810 VAR_001621 + P51795:p.Gly512Arg chrX 49557831 49557834 VAR_001622 + P51795:p.Ser520Pro chrX 49557852 49557855 VAR_001623 + P51795:p.Glu527Asp chr16 1449138 1449141 VAR_020997 - P51798:p.Gly215Arg chr16 1447713 1447716 VAR_020998 - P51798:p.Gly240Arg chr16 1447330 1447333 VAR_020999 - P51798:p.Pro249Arg chr16 1447294 1447297 VAR_037427 - P51798:p.Ile261Phe chr16 1446172 1446175 VAR_021000 - P51798:p.Arg286Gln chr16 1445237 1445240 VAR_021001 - P51798:p.Met332Val chr16 1442855 1442858 VAR_021002 - P51798:p.Val418Met chr16 1440645 1440648 VAR_021003 - P51798:p.Leu490Phe chr16 1440537 1440540 VAR_021004 - P51798:p.Arg526Trp chr16 1438723 1438726 VAR_021005 - P51798:p.Leu614Pro chr16 1437698 1437701 VAR_021006 - P51798:p.Gly677Val chr16 1437411 1437414 VAR_021007 - P51798:p.Ser744Phe chr16 1437052 1437055 VAR_017838 - P51798:p.Arg762Gln chr16 1437040 1437043 VAR_017839 - P51798:p.Leu766Pro chr16 1437037 1437040 VAR_021008 - P51798:p.Arg767Gln chr16 1437037 1437040 VAR_017840 - P51798:p.Arg767Trp chr21 36755851 36755854 VAR_017227 - O95500:p.Thr4Met chr21 36755608 36755611 VAR_010738 - O95500:p.Val85Asp chr3 191588820 191588823 VAR_008173 + Q9Y5I7:p.Met71Arg chr3 191602923 191602926 VAR_017228 + Q9Y5I7:p.His141Asp chr3 191605257 191605260 VAR_017229 + Q9Y5I7:p.Leu145Pro chr3 191605269 191605272 VAR_017230 + Q9Y5I7:p.Arg149Leu chr3 191605275 191605278 VAR_017231 + Q9Y5I7:p.Leu151Phe chr3 191605275 191605278 VAR_017232 + Q9Y5I7:p.Leu151Pro chr3 191605275 191605278 VAR_017233 + Q9Y5I7:p.Leu151Trp chr3 191605323 191605326 VAR_008174 + Q9Y5I7:p.Leu167Pro chr3 191605395 191605398 VAR_008175 + Q9Y5I7:p.Gly191Arg chr3 191605416 191605417 VAR_017234 + Q9Y5I7:p.Gly198Ala chr3 191608804 191608806 VAR_017234 + Q9Y5I7:p.Gly198Ala chr3 191605416 191605417 VAR_008176 + Q9Y5I7:p.Gly198Asp chr3 191608804 191608806 VAR_008176 + Q9Y5I7:p.Gly198Asp chr3 191608836 191608839 VAR_017235 + Q9Y5I7:p.Ala209Thr chr3 191608857 191608860 VAR_017236 + Q9Y5I7:p.Arg216Thr chr3 191608905 191608908 VAR_008177 + Q9Y5I7:p.Phe232Cys chr3 191608908 191608911 VAR_008178 + Q9Y5I7:p.Gly233Asp chr3 191608914 191608917 VAR_008179 + Q9Y5I7:p.Ser235Phe chr3 191608914 191608917 VAR_017237 + Q9Y5I7:p.Ser235Pro chr3 191608926 191608929 VAR_008172 + Q9Y5I7:p.Gly239Arg chr21 30460560 30460563 VAR_033774 - P56750:p.Ala82Thr chr3 139226205 139226208 VAR_033775 + P56856:p.Met149Leu chr1 42874788 42874791 VAR_031238 - Q8N6F1:p.Leu13Phe chr1 42874767 42874770 VAR_031239 - Q8N6F1:p.Gly20Asp chr1 42874656 42874659 VAR_031240 - Q8N6F1:p.Gln57Glu chr1 42873302 42873305 VAR_031241 - Q8N6F1:p.Leu90Pro chr16 3005594 3005597 VAR_017151 - P56747:p.Ile143Val chr17 7104758 7104761 VAR_030736 - O95471:p.Ala133Thr chr21 30509727 30509730 VAR_024417 - P56748:p.Thr129Ala chr21 30509661 30509664 VAR_020387 - P56748:p.Ser151Pro chr4 141680764 141680767 VAR_024400 - O14967:p.Ala160Ser chr4 141677623 141677626 VAR_033776 - O14967:p.Val290Ile chr9 137165965 137165968 VAR_020424 - O95833:p.Pro38His chr12 121337382 121337385 VAR_020398 - P30622:p.Asp1069Glu chr12 121297923 121297926 VAR_036446 - P30622:p.Met1202Ile chr7 73259398 73259401 VAR_023618 + Q9UDT6:p.Arg977Pro chr19 41209364 41209367 VAR_027962 - Q96DZ5:p.Asp175Val chr12 91320948 91320951 VAR_034663 + Q5K131:p.Ser9Phe chr17 69981559 69981562 VAR_030797 + Q9UGN4:p.Arg111Gln chr16 28406554 28406557 VAR_005131 - Q13286:p.Leu101Pro chr16 28405422 28405425 VAR_005132 - Q13286:p.Leu170Pro chr16 28401319 28401322 VAR_005133 - Q13286:p.Glu295Lys chr16 28400992 28400995 VAR_005134 - Q13286:p.Val330Phe chr16 28400980 28400983 VAR_005135 - Q13286:p.Arg334Cys chr16 28400980 28400983 VAR_005136 - Q13286:p.Arg334His chr13 76464273 76464276 VAR_042700 + O75503:p.Arg63His chr13 76464273 76464276 VAR_042702 + O75503:p.Arg63Pro chr15 66297939 66297942 VAR_021549 - Q9NWW5:p.Arg62His chr15 66293762 66293765 VAR_021550 - Q9NWW5:p.Glu72Gln chr15 66291183 66291186 VAR_015683 - Q9NWW5:p.Gly123Asp chr15 66291090 66291093 VAR_015684 - Q9NWW5:p.154del chr15 66290683 66290686 VAR_015685 - Q9NWW5:p.171del chr15 66289030 66289033 VAR_021551 - Q9NWW5:p.Tyr221Ser chr15 66287744 66287747 VAR_021552 - Q9NWW5:p.Met241Thr chr15 66287672 66287675 VAR_021553 - Q9NWW5:p.265del chr15 66287570 66287573 VAR_021554 - Q9NWW5:p.Pro299Leu chr15 66287567 66287570 VAR_015686 - Q9NWW5:p.Trp300Arg chr8 1706672 1706675 VAR_026554 + Q9UBY8:p.Leu16Met chr8 1706696 1706699 VAR_013174 + Q9UBY8:p.Arg24Gly chr8 1706900 1706903 VAR_031704 + Q9UBY8:p.His92Tyr chr8 1707089 1707092 VAR_013175 + Q9UBY8:p.Ala155Val chr8 1707134 1707137 VAR_026555 + Q9UBY8:p.Thr170Met chr8 1715888 1715891 VAR_026556 + Q9UBY8:p.Arg204Cys chr8 1716065 1716068 VAR_026557 + Q9UBY8:p.Trp263Cys chr4 56166291 56166294 VAR_040061 - O15516:p.Ser208Cys chr4 56160214 56160217 VAR_040062 - O15516:p.Glu380Lys chr4 56160169 56160172 VAR_029076 - O15516:p.Leu395Ile chr4 56151793 56151796 VAR_029077 - O15516:p.His542Arg chr8 27513426 27513429 VAR_019366 - P10909:p.Asn317His chr8 27513393 27513396 VAR_019367 - P10909:p.Asp328Asn chr8 27512045 27512048 VAR_019368 - P10909:p.Ser396Leu chr13 20633995 20633998 VAR_023113 - Q8IX90:p.Thr254Ala chr13 45844155 45844158 VAR_022912 - Q9H714:p.Gly152Arg chr13 30441065 30441068 VAR_029615 + Q8N6G2:p.Lys231Asn chr13 42260905 42260908 VAR_033743 + Q8N7L0:p.Arg134Cys chr13 30378826 30378829 VAR_030261 + Q5VYS4:p.Arg59Gly chr14 24046472 24046475 VAR_011770 - P23946:p.Gly46Arg chr14 24046412 24046415 VAR_011771 - P23946:p.His66Arg chr14 24045565 24045568 VAR_029190 - P23946:p.Arg98His chr5 10339466 10339469 VAR_036751 - Q96DG6:p.Tyr155Cys chr7 95395655 95395658 VAR_016601 - Q9UJS0:p.Glu601Lys chr17 4824539 4824542 VAR_026417 - O94983:p.Ala267Pro chr17 4816349 4816352 VAR_026418 - O94983:p.Ser903Pro chr14 23841123 23841126 VAR_024600 + Q86U38:p.Ser308Asn chr14 23843164 23843167 VAR_036456 + Q86U38:p.Ser497Tyr chr14 23844105 23844108 VAR_036457 + Q86U38:p.Arg626Gln chr14 57675541 57675544 VAR_027782 - Q86TY3:p.Thr96Ile chr14 57674656 57674659 VAR_027783 - Q86TY3:p.Ala391Val chr14 57669597 57669600 VAR_027784 - Q86TY3:p.Val528Phe chr14 57633444 57633447 VAR_027785 - Q86TY3:p.Gln613Glu chr14 73486449 73486452 VAR_027963 - Q96MY7:p.Gly11Ala chr14 73470789 73470792 VAR_027964 - Q96MY7:p.Leu622Pro chr14 64101285 64101288 VAR_022999 + Q96LQ0:p.Thr83Ile chr14 100207980 100207983 VAR_029588 + Q86TU6:p.Glu21Asp chr14 102636537 102636540 VAR_030273 + Q17RC7:p.Arg77Trp chr14 102636585 102636588 VAR_030274 + Q17RC7:p.Asp93Glu chr14 102638365 102638368 VAR_030275 + Q17RC7:p.Leu185His chr14 49162219 49162222 VAR_024309 - Q9NVR5:p.Asp259Gly chr14 57008011 57008014 VAR_024310 - Q9NVL8:p.Tyr235Cys chr14 73893635 73893638 VAR_035677 + Q9H8Y1:p.Val133Met chr14 22636752 22636755 VAR_033744 + Q9NWQ9:p.Leu16Val chr14 89490712 89490715 VAR_032129 - Q9BUY7:p.Ala15Val chr14 89490080 89490083 VAR_032130 - Q9BUY7:p.Asp31Gly chr14 89490038 89490041 VAR_032131 - Q9BUY7:p.Thr45Ala chr14 93461451 93461454 VAR_022834 + Q8N9Y4:p.Ala28Thr chr14 103107811 103107814 VAR_033745 + Q96IL0:p.Asn75Ser chr14 90696418 90696421 VAR_018738 + Q7Z3D6:p.Arg10Cys chr14 90740876 90740879 VAR_018739 + Q7Z3D6:p.Asp502Asn chr14 76913565 76913568 VAR_030890 + Q9P1V8:p.Leu18Pro chr14 76914621 76914624 VAR_030891 + Q9P1V8:p.Lys370Glu chr14 76914873 76914876 VAR_030892 + Q9P1V8:p.Lys454Glu chr14 98252287 98252290 VAR_030224 + Q52M58:p.Arg3Trp chr14 98252377 98252380 VAR_030225 + Q52M58:p.Val33Ala chr14 77304548 77304551 VAR_030248 + Q8N769:p.His26Tyr chr17 37374226 37374229 VAR_033746 + P09543:p.Gln207Arg chr8 87986455 87986458 VAR_032859 + Q8NA66:p.Asp64Asn chr8 87986470 87986473 VAR_032860 + Q8NA66:p.Gln69Lys chr12 6505534 6505537 VAR_024422 + Q15021:p.Val797Met chr2 96452119 96452122 VAR_027882 + Q15003:p.Val539Ala chr4 17495169 17495172 VAR_036125 + Q9BPX3:p.Met265Thr chr18 70352897 70352900 VAR_027147 + Q96KN2:p.Gly6Arg chr18 70374585 70374588 VAR_027148 + Q96KN2:p.Leu20Leu chrX 150578686 150578689 VAR_036603 + Q16280:p.Arg97His chrX 150582737 150582740 VAR_036604 + Q16280:p.Arg399Gln chr2 98464645 98464648 VAR_010902 + Q16281:p.Thr153Met chr2 98464675 98464678 VAR_010903 + Q16281:p.Pro163Leu chr2 98466869 98466872 VAR_021963 + Q16281:p.Glu198Lys chr2 98470997 98471000 VAR_010904 + Q16281:p.Arg283Gln chr2 98470997 98471000 VAR_010905 + Q16281:p.Arg283Trp chr2 98471021 98471024 VAR_010906 + Q16281:p.Thr291Arg chr2 98471378 98471381 VAR_010910 + Q16281:p.Arg410Trp chr2 98471735 98471738 VAR_010907 + Q16281:p.Val529Met chr2 98471789 98471792 VAR_010908 + Q16281:p.Phe547Leu chr2 98471819 98471822 VAR_010909 + Q16281:p.Gly557Arg chr8 87749396 87749399 VAR_025524 - Q9NQW8:p.Arg203Gln chr8 87735364 87735367 VAR_018110 - Q9NQW8:p.Thr298Pro chr8 87729213 87729216 VAR_024418 - Q9NQW8:p.Ile307Val chr8 87714110 87714113 VAR_018111 - Q9NQW8:p.Ser435Phe chr8 87657327 87657330 VAR_025525 - Q9NQW8:p.Pro750Ser chr8 87657312 87657315 VAR_018112 - Q9NQW8:p.Glu755Gly chrX 21204342 21204345 VAR_035681 + Q8WXI2:p.Arg46His chr7 134580313 134580316 VAR_027833 - O95628:p.Ala7Gly chr3 32790077 32790080 VAR_037957 + Q9H9A5:p.Pro736Ser chr6 43013492 43013495 VAR_037731 + Q9BT09:p.Met145Ile chr6 43014360 43014363 VAR_037732 + Q9BT09:p.Ser231Ile chr1 23946465 23946468 VAR_029209 - P34972:p.His316Tyr chr17 77230659 77230662 VAR_009294 - P18545:p.Pro27His chr11 58148112 58148115 VAR_033777 + P26441:p.Asn49Ser chr11 58148511 58148514 VAR_013924 + P26441:p.His182Arg chr12 39696945 39696948 VAR_035506 + Q12860:p.Pro794His chr12 39696957 39696960 VAR_011722 + Q12860:p.Val798Leu chr1 201759393 201759396 VAR_021918 + Q02246:p.Ala145Thr chr1 201762771 201762774 VAR_029129 + Q02246:p.Pro366Leu chr1 201767377 201767380 VAR_021919 + Q02246:p.Arg657Trp chr3 74433542 74433545 VAR_019906 - Q9P232:p.Ser630Asn chr3 2883506 2883509 VAR_035507 + Q8IWV2:p.Thr176Pro chr3 2942362 2942365 VAR_035508 + Q8IWV2:p.Lys420Asn chr11 99195495 99195498 VAR_019907 + O94779:p.Ser23Ala chr11 99195636 99195639 VAR_019908 + O94779:p.Leu70Arg chr11 99195669 99195672 VAR_019909 + O94779:p.Asn81Ser chr11 99567074 99567077 VAR_019910 + O94779:p.Ile530Val chr3 1244640 1244643 VAR_035509 + Q9UQ52:p.Thr108Ala chr3 1295185 1295188 VAR_033611 + Q9UQ52:p.Phe150Ser chr3 1346572 1346575 VAR_019913 + Q9UQ52:p.Ala440Ser chr3 1389605 1389608 VAR_035510 + Q9UQ52:p.Ser585Cys chr2 124998138 124998141 VAR_038518 + Q8WYK1:p.Ser452Leu chr17 7788678 7788681 VAR_024787 + Q8N137:p.Pro578Gln chr15 22472215 22472218 VAR_035682 + Q9NZP6:p.Arg37Gln chr15 22472446 22472449 VAR_035683 + Q9NZP6:p.Val114Ile chr15 22472740 22472743 VAR_026872 + Q9NZP6:p.Val212Ala chr15 22472863 22472866 VAR_026873 + Q9NZP6:p.Gly253Arg chr15 22472950 22472953 VAR_026874 + Q9NZP6:p.Asn282Ser chr15 22473322 22473325 VAR_026875 + Q9NZP6:p.Gln406Glu chr15 74283285 74283288 VAR_026880 + Q2M3C6:p.Arg391His chr15 74283393 74283396 VAR_026881 + Q2M3C6:p.Pro427Leu chr15 73285796 73285799 VAR_026891 + Q6ZRI6:p.Ala119Pro chr15 73287047 73287050 VAR_026893 + Q6ZRI6:p.Ser536Ala chr15 43036411 43036414 VAR_029614 + Q8NHR7:p.Pro31Arg chr15 38418105 38418108 VAR_035620 - Q6ZUT6:p.Gly189Glu chr17 45630359 45630362 VAR_001642 - P02452:p.Gly197Cys chr17 45630335 45630338 VAR_001643 - P02452:p.Pro205Ala chr17 45630124 45630127 VAR_001644 - P02452:p.Gly221Cys chr17 45630115 45630118 VAR_001645 - P02452:p.Gly224Cys chr17 45629384 45629387 VAR_001646 - P02452:p.Gly263Arg chr17 45629384 45629387 VAR_001647 - P02452:p.Gly263Val chr17 45629018 45629021 VAR_001648 - P02452:p.Gly272Cys chr17 45629009 45629012 VAR_001649 - P02452:p.Gly275Asp chr17 45628694 45628697 VAR_013579 - P02452:p.Arg312Cys chr17 45628520 45628523 VAR_001650 - P02452:p.Gly332Arg chr17 45628288 45628291 VAR_001651 - P02452:p.Gly350Arg chr17 45628022 45628025 VAR_001652 - P02452:p.Gly353Cys chr17 45628013 45628016 VAR_001653 - P02452:p.Gly356Cys chr17 45627932 45627935 VAR_001654 - P02452:p.Gly383Cys chr17 45627826 45627829 VAR_001655 - P02452:p.Gly389Cys chr17 45627826 45627829 VAR_001656 - P02452:p.Gly389Arg chr17 45627799 45627802 VAR_001657 - P02452:p.Gly398Ala chr17 45627799 45627802 VAR_001658 - P02452:p.Gly398Asp chr17 45627687 45627690 VAR_001659 - P02452:p.Gly401Cys chr17 45627678 45627681 VAR_001660 - P02452:p.Gly404Cys chr17 45627624 45627627 VAR_001661 - P02452:p.Gly422Cys chr17 45627615 45627618 VAR_001662 - P02452:p.Gly425Ser chr17 45627457 45627460 VAR_001663 - P02452:p.Gly434Val chr17 45627113 45627116 VAR_001664 - P02452:p.Gly476Arg chr17 45626741 45626744 VAR_001665 - P02452:p.Gly527Cys chr17 45626732 45626735 VAR_001666 - P02452:p.Gly530Ser chr17 45626723 45626726 VAR_001667 - P02452:p.Gly533Asp chr17 45626389 45626392 VAR_001669 - P02452:p.Gly560Cys chr17 45626389 45626392 VAR_001670 - P02452:p.Gly560Arg chr17 45626389 45626392 VAR_001668 - P02452:p.Gly560Ser chr17 45626377 45626380 VAR_001671 - P02452:p.Arg564His chr17 45626362 45626365 VAR_001672 - P02452:p.Gly569Arg chr17 45625395 45625398 VAR_001673 - P02452:p.Gly593Cys chr17 45625395 45625398 VAR_001674 - P02452:p.Gly593Ser chr17 45625014 45625017 VAR_001675 - P02452:p.Gly638Ser chr17 45624849 45624852 VAR_001676 - P02452:p.Gly656Ser chr17 45624171 45624174 VAR_001677 - P02452:p.Gly701Cys chr17 45624162 45624165 VAR_001678 - P02452:p.Gly704Cys chr17 45623820 45623823 VAR_001679 - P02452:p.Gly719Asp chr17 45623820 45623823 VAR_001680 - P02452:p.Gly719Ser chr17 45623793 45623796 VAR_001681 - P02452:p.Gly728Arg chr17 45623766 45623769 VAR_001682 - P02452:p.Gly737Asp chr17 45623748 45623751 VAR_001683 - P02452:p.Gly743Ser chr17 45623748 45623751 VAR_001684 - P02452:p.Gly743Val chr17 45623227 45623230 VAR_001685 - P02452:p.Gly764Val chr17 45623218 45623221 VAR_001686 - P02452:p.Gly767Ser chr17 45623191 45623194 VAR_001687 - P02452:p.Gly776Ser chr17 45622710 45622713 VAR_001688 - P02452:p.Gly809Ser chr17 45622692 45622695 VAR_001689 - P02452:p.Gly815Val chr17 45622456 45622459 VAR_001690 - P02452:p.Gly821Ser chr17 45622450 45622453 VAR_001691 - P02452:p.Pro823Ala chr17 45622402 45622405 VAR_001692 - P02452:p.Gly839Ser chr17 45622393 45622396 VAR_001693 - P02452:p.Gly842Arg chr17 45622384 45622387 VAR_001694 - P02452:p.Gly845Arg chr17 45622366 45622369 VAR_001695 - P02452:p.Gly851Asp chr17 45622233 45622236 VAR_008118 - P02452:p.Gly866Ser chr17 45622224 45622227 VAR_001696 - P02452:p.Gly869Cys chr17 45622053 45622056 VAR_001697 - P02452:p.Gly884Ser chr17 45621877 45621880 VAR_001698 - P02452:p.Gly896Cys chr17 45621787 45621790 VAR_001699 - P02452:p.Gly926Cys chr17 45621367 45621370 VAR_001700 - P02452:p.Gly980Val chr17 45621277 45621280 VAR_001701 - P02452:p.Gly1010Ser chr17 45621265 45621268 VAR_033097 - P02452:p.Arg1014Cys chr17 45621143 45621146 VAR_030013 - P02452:p.Gly1019Ala chr17 45621134 45621137 VAR_001702 - P02452:p.Gly1022Ser chr17 45621134 45621137 VAR_001703 - P02452:p.Gly1022Val chr17 45621125 45621128 VAR_001704 - P02452:p.Gly1025Arg chr17 45620976 45620979 VAR_001705 - P02452:p.Gly1040Ser chr17 45620967 45620970 VAR_001706 - P02452:p.Gly1043Ser chr17 45620952 45620961 VAR_001707 - P02452:p.1046_1048del chr17 45620949 45620952 VAR_001708 - P02452:p.Gly1049Ser chr17 45620922 45620925 VAR_001709 - P02452:p.Gly1058Ser chr17 45620913 45620916 VAR_001710 - P02452:p.Gly1061Asp chr17 45620913 45620916 VAR_001711 - P02452:p.Gly1061Ser chr17 45620488 45620491 VAR_001713 - P02452:p.Gly1076Ser chr17 45620479 45620482 VAR_001714 - P02452:p.Gly1079Ser chr17 45620470 45620473 VAR_001715 - P02452:p.Gly1082Cys chr17 45620340 45620343 VAR_001716 - P02452:p.Gly1088Ala chr17 45620331 45620334 VAR_001717 - P02452:p.Gly1091Ser chr17 45620304 45620307 VAR_001718 - P02452:p.Gly1100Ser chr17 45620286 45620289 VAR_001719 - P02452:p.Gly1106Ala chr17 45619894 45619897 VAR_001720 - P02452:p.Gly1124Cys chr17 45619843 45619846 VAR_033778 - P02452:p.Arg1141Gln chr17 45619479 45619482 VAR_001721 - P02452:p.Gly1142Ser chr17 45619452 45619455 VAR_001722 - P02452:p.Gly1151Ser chr17 45619452 45619455 VAR_001723 - P02452:p.Gly1151Val chr17 45619443 45619446 VAR_001724 - P02452:p.Gly1154Arg chr17 45619407 45619410 VAR_001725 - P02452:p.Gly1166Cys chr17 45619389 45619392 VAR_001726 - P02452:p.Gly1172Asp chr17 45619374 45619377 VAR_033779 - P02452:p.Val1177Ile chr17 45619270 45619273 VAR_001727 - P02452:p.Gly1181Ser chr17 45619261 45619264 VAR_001728 - P02452:p.Gly1184Val chr17 45619252 45619255 VAR_001729 - P02452:p.Gly1187Ser chr17 45619252 45619255 VAR_001730 - P02452:p.Gly1187Val chr17 45619228 45619231 VAR_001731 - P02452:p.Gly1195Cys chr17 45619060 45619063 VAR_030014 - P02452:p.Ser1251Thr chr17 45618850 45618853 VAR_001732 - P02452:p.Asp1277His chr17 45618745 45618748 VAR_001733 - P02452:p.Trp1312Cys chr17 45618371 45618377 VAR_001734 - P02452:p.1337_1338del chr17 45618221 45618224 VAR_001735 - P02452:p.Leu1388Arg chr17 45618212 45618215 VAR_030015 - P02452:p.Gln1391Lys chr17 45617966 45617969 VAR_033780 - P02452:p.Lys1430Asn chr17 45617963 45617966 VAR_033781 - P02452:p.Thr1431Pro chr17 45617954 45617957 VAR_001736 - P02452:p.Thr1434Ser chr17 45617942 45617945 VAR_030016 - P02452:p.Pro1438Arg chr17 45617876 45617879 VAR_030017 - P02452:p.Pro1460His chr17 45617864 45617867 VAR_001737 - P02452:p.Leu1464Pro chr7 93674200 93674203 VAR_030116 + P08123:p.Thr59Pro chr7 93675529 93675583 VAR_001851 + P08123:p.76_93del chr7 93680212 93680266 VAR_030117 + P08123:p.181_198del chr7 93681845 93681848 VAR_001852 + P08123:p.Gly211Asp chr7 93682738 93682741 VAR_001853 + P08123:p.Ile249Asn chr7 93683299 93683302 VAR_030118 + P08123:p.Val270Ile chr7 93683317 93683320 VAR_001854 + P08123:p.Ala276Thr chr7 93683730 93683733 VAR_001855 + P08123:p.Gly328Ser chr7 93683739 93683742 VAR_008119 + P08123:p.Gly331Asp chr7 93683748 93683751 VAR_001856 + P08123:p.Gly334Cys chr7 93683757 93683760 VAR_001857 + P08123:p.Gly337Cys chr7 93683757 93683760 VAR_001858 + P08123:p.Gly337Ser chr7 93683781 93683784 VAR_001859 + P08123:p.345del chr7 93684213 93684216 VAR_001860 + P08123:p.Gly349Cys chr7 93684878 93684881 VAR_001861 + P08123:p.Gly409Val chr7 93685063 93685066 VAR_001862 + P08123:p.Gly433Glu chr7 93686057 93686060 VAR_001863 + P08123:p.Gly460Ser chr7 93686588 93686591 VAR_030119 + P08123:p.Ala483Val chr7 93687072 93687075 VAR_001864 + P08123:p.Gly511Asp chr7 93687090 93687093 VAR_001865 + P08123:p.Gly517Arg chr7 93687676 93687679 VAR_033040 + P08123:p.Asn528Ser chr7 93687883 93687886 VAR_001866 + P08123:p.Gly547Arg chr7 93688202 93688205 VAR_001868 + P08123:p.Gly562Cys chr7 93688208 93688211 VAR_033041 + P08123:p.Ala564Thr chr7 93689224 93689227 VAR_001869 + P08123:p.Gly586Arg chr7 93690376 93690379 VAR_001870 + P08123:p.Gly592Ser chr7 93691722 93691725 VAR_001871 + P08123:p.Gly634Val chr7 93691731 93691734 VAR_001872 + P08123:p.Gly637Asp chr7 93691740 93691743 VAR_001873 + P08123:p.Gly640Ser chr7 93692497 93692500 VAR_001874 + P08123:p.Gly670Asp chr7 93693460 93697081 VAR_030120 + P08123:p.676_855del chr7 93693460 93693463 VAR_001875 + P08123:p.Gly676Val chr7 93693466 93693469 VAR_030121 + P08123:p.Pro678His chr7 93694237 93694240 VAR_001876 + P08123:p.Arg708Gln chr7 93694362 93694365 VAR_001877 + P08123:p.Gly715Asp chr7 93694503 93694506 VAR_001878 + P08123:p.Gly730Cys chr7 93694521 93694524 VAR_001879 + P08123:p.Gly736Cys chr7 93694542 93694545 VAR_001880 + P08123:p.Ala743Gly chr7 93694566 93694569 VAR_001881 + P08123:p.Gly751Ser chr7 93694575 93694578 VAR_001882 + P08123:p.Gly754Arg chr7 93694971 93694974 VAR_001883 + P08123:p.Gly766Val chr7 93695007 93695010 VAR_001884 + P08123:p.Gly778Ser chr7 93695861 93695864 VAR_001885 + P08123:p.Gly784Arg chr7 93695870 93695873 VAR_001886 + P08123:p.Gly787Cys chr7 93695879 93695882 VAR_001887 + P08123:p.Gly790Asp chr7 93695897 93695900 VAR_001888 + P08123:p.Gly796Ser chr7 93696979 93696982 VAR_001889 + P08123:p.Arg822His chr7 93697018 93697021 VAR_001890 + P08123:p.Gly835Ser chr7 93698361 93698364 VAR_001891 + P08123:p.Gly877Cys chr7 93699079 93699082 VAR_001892 + P08123:p.Gly892Asp chr7 93699088 93699091 VAR_001893 + P08123:p.Gly895Asp chr7 93699721 93699724 VAR_001894 + P08123:p.Gly949Ser chr7 93699739 93699742 VAR_001895 + P08123:p.Gly955Ser chr7 93699793 93699796 VAR_008120 + P08123:p.Gly973Val chr7 93700005 93700008 VAR_001896 + P08123:p.Gly997Asp chr7 93700421 93700424 VAR_001897 + P08123:p.Gly1012Ser chr7 93700451 93700454 VAR_001898 + P08123:p.Leu1022Phe chr7 93701186 93701189 VAR_001899 + P08123:p.Gly1066Asp chr7 93701222 93701225 VAR_001900 + P08123:p.Gly1078Cys chr7 93701607 93701610 VAR_001901 + P08123:p.Gly1096Ala chr7 93701622 93701625 VAR_001903 + P08123:p.Pro1101Leu chr7 93701625 93701628 VAR_001902 + P08123:p.Gly1102Arg chr7 93701763 93701766 VAR_001904 + P08123:p.Thr1148Pro chr7 93702293 93702296 VAR_001905 + P08123:p.Asp1189Glu chr7 93702320 93702323 VAR_001906 + P08123:p.Ser1198Pro chr7 93704314 93704317 VAR_030122 + P08123:p.Gln1354His chr12 46684344 46684347 VAR_017638 - P02458:p.Thr9Ser chr12 46677923 46677926 VAR_033782 - P02458:p.Glu142Asp chr12 46677712 46677715 VAR_019836 - P02458:p.Pro158Leu chr12 46674488 46674491 VAR_001738 - P02458:p.Gly267Asp chr12 46674088 46674091 VAR_001739 - P02458:p.Arg275Cys chr12 46673858 46673879 VAR_001740 - P02458:p.302_308del chr12 46673873 46673876 VAR_001741 - P02458:p.Gly303Asp chr12 46673522 46673525 VAR_023925 - P02458:p.Gly318Arg chr12 46669816 46669819 VAR_001742 - P02458:p.Gly354Arg chr12 46667756 46667759 VAR_001743 - P02458:p.Gly375Arg chr12 46667151 46667154 VAR_001744 - P02458:p.Gly447Ser chr12 46667133 46667136 VAR_017639 - P02458:p.Gly453Asp chr12 46667133 46667136 VAR_017640 - P02458:p.Gly453Val chr12 46666436 46666439 VAR_001745 - P02458:p.Gly492Val chr12 46666400 46666403 VAR_001746 - P02458:p.Gly504Ser chr12 46666012 46666015 VAR_001747 - P02458:p.Gly510Asp chr12 46666003 46666006 VAR_024819 - P02458:p.Gly513Ser chr12 46665994 46665997 VAR_023926 - P02458:p.Gly516Asp chr12 46665622 46665625 VAR_023927 - P02458:p.Arg565Cys chr12 46664163 46664166 VAR_033783 - P02458:p.Thr638Ile chr12 46663482 46663485 VAR_023928 - P02458:p.Leu667Phe chr12 46662939 46662942 VAR_023929 - P02458:p.Gly717Ser chr12 46662939 46662942 VAR_024820 - P02458:p.Gly717Val chr12 46662933 46662936 VAR_001748 - P02458:p.Arg719Cys chr12 46662198 46662201 VAR_024821 - P02458:p.Gly771Ala chr12 46662198 46662201 VAR_017641 - P02458:p.Gly771Asp chr12 46662189 46662192 VAR_001749 - P02458:p.Gly774Ser chr12 46662171 46662174 VAR_017642 - P02458:p.Gly780Arg chr12 46661849 46661852 VAR_017643 - P02458:p.Gly795Arg chr12 46661443 46661446 VAR_001751 - P02458:p.Gly804Ala chr12 46660663 46660666 VAR_023930 - P02458:p.Gly855Ser chr12 46660064 46660067 VAR_001752 - P02458:p.Gly891Arg chr12 46659611 46659614 VAR_017644 - P02458:p.Gly894Glu chr12 46659602 46659605 VAR_023931 - P02458:p.Gly897Val chr12 46659581 46659584 VAR_017645 - P02458:p.Arg904Cys chr12 46659566 46659569 VAR_001753 - P02458:p.Gly909Cys chr12 46658697 46658700 VAR_017646 - P02458:p.Gly948Asp chr12 46658436 46658439 VAR_001754 - P02458:p.Gly969Ser chr12 46658400 46658403 VAR_017647 - P02458:p.Gly981Ser chr12 46658376 46658379 VAR_001755 - P02458:p.Arg989Cys chr12 46658367 46658370 VAR_023932 - P02458:p.Arg992Gly chr12 46658155 46658158 VAR_001756 - P02458:p.Gly1005Ser chr12 46658104 46658122 VAR_017648 - P02458:p.1017_1022del chr12 46658119 46658122 VAR_001757 - P02458:p.Gly1017Val chr12 46657661 46657664 VAR_033784 - P02458:p.Ala1051Thr chr12 46657655 46657658 VAR_001758 - P02458:p.Gly1053Glu chr12 46657447 46657450 VAR_017649 - P02458:p.Gly1065Val chr12 46656966 46656969 VAR_001759 - P02458:p.Gly1110Cys chr12 46656957 46656960 VAR_001760 - P02458:p.Gly1113Cys chr12 46656939 46656942 VAR_017650 - P02458:p.Gly1119Arg chr12 46656867 46656870 VAR_001761 - P02458:p.Gly1143Ser chr12 46656012 46656120 VAR_001762 - P02458:p.1164_1199del chr12 46656099 46656102 VAR_023933 - P02458:p.Gly1170Ser chr12 46656090 46656093 VAR_017651 - P02458:p.Gly1173Arg chr12 46656081 46656084 VAR_001763 - P02458:p.Gly1176Ser chr12 46656057 46656060 VAR_019837 - P02458:p.Ile1184Ile chr12 46656045 46656048 VAR_001764 - P02458:p.Gly1188Arg chr12 46656018 46656021 VAR_001765 - P02458:p.Gly1197Ser chr12 46655616 46655634 VAR_001766 - P02458:p.1207_1212del chr12 46654883 46654886 VAR_023934 - P02458:p.Gly1305Asp chr12 46654805 46654808 VAR_017652 - P02458:p.Val1331Ile chr12 46654285 46654288 VAR_024822 - P02458:p.Thr1390Asn chr12 46654282 46654285 VAR_023935 - P02458:p.Tyr1391Cys chr12 46654240 46654243 VAR_033785 - P02458:p.Gly1405Ser chr12 46654138 46654141 VAR_017105 - P02458:p.Thr1439Met chr12 46653576 46653579 VAR_024823 - P02458:p.Thr1448Pro chr12 46653513 46653516 VAR_024824 - P02458:p.Asp1469His chr12 46653468 46653471 VAR_024825 - P02458:p.1484del chr12 46653465 46653468 VAR_024826 - P02458:p.Cys1485Gly chr6 32004621 32004624 VAR_008544 + P06681:p.Cys131Tyr chr6 32009630 32009633 VAR_008545 + P06681:p.Ser209Phe chr6 32011780 32011783 VAR_019158 + P06681:p.Glu318Asp chr6 32019009 32019012 VAR_008546 + P06681:p.Gly464Arg chr6 32019428 32019431 VAR_011772 + P06681:p.Phe533Leu chr6 32021053 32021056 VAR_019159 + P06681:p.Arg734Cys chr2 189677347 189677350 VAR_001767 + P02461:p.Leu169Phe chr2 189678330 189678333 VAR_001768 + P02461:p.Gly183Cys chr2 189678330 189678333 VAR_011095 + P02461:p.Gly183Asp chr2 189678330 189678333 VAR_011096 + P02461:p.Gly183Ser chr2 189678357 189678360 VAR_011097 + P02461:p.Gly192Val chr2 189678839 189678842 VAR_001769 + P02461:p.Gly201Arg chr2 189678848 189678851 VAR_011098 + P02461:p.Gly204Asp chr2 189678848 189678851 VAR_011099 + P02461:p.Gly204Ser chr2 189678866 189678869 VAR_011100 + P02461:p.Gly210Asp chr2 189679645 189679648 VAR_011101 + P02461:p.Gly219Cys chr2 189679663 189679666 VAR_011102 + P02461:p.Gly225Val chr2 189679672 189679675 VAR_001770 + P02461:p.Gly228Glu chr2 189680354 189680357 VAR_011103 + P02461:p.Gly240Arg chr2 189680363 189680366 VAR_011104 + P02461:p.Gly243Val chr2 189680538 189680541 VAR_011105 + P02461:p.Gly249Asp chr2 189680538 189680541 VAR_011106 + P02461:p.Gly249Val chr2 189680547 189680550 VAR_011107 + P02461:p.Gly252Asp chr2 189680547 189680550 VAR_011108 + P02461:p.Gly252Arg chr2 189680547 189680550 VAR_011109 + P02461:p.Gly252Val chr2 189680556 189680559 VAR_011110 + P02461:p.Gly255Val chr2 189680583 189680586 VAR_011111 + P02461:p.Gly264Arg chr2 189681235 189681238 VAR_011112 + P02461:p.Gly267Val chr2 189681754 189681757 VAR_037007 + P02461:p.Gly297Arg chr2 189681909 189681912 VAR_001771 + P02461:p.Gly303Arg chr2 189682424 189682427 VAR_011113 + P02461:p.Gly321Val chr2 189682442 189682445 VAR_011114 + P02461:p.Gly327Asp chr2 189683154 189683157 VAR_011115 + P02461:p.Gly345Arg chr2 189684519 189684522 VAR_011116 + P02461:p.Gly417Arg chr2 189684528 189684531 VAR_035738 + P02461:p.Gly420Ser chr2 189684808 189684811 VAR_011117 + P02461:p.Gly444Arg chr2 189685286 189685289 VAR_011118 + P02461:p.Gly489Glu chr2 189685322 189685325 VAR_011119 + P02461:p.Gly501Arg chr2 189685968 189685971 VAR_011120 + P02461:p.Gly519Val chr2 189686365 189686368 VAR_001772 + P02461:p.Gly540Arg chr2 189686392 189686395 VAR_011121 + P02461:p.Gly549Glu chr2 189686401 189686404 VAR_011122 + P02461:p.Gly552Glu chr2 189686665 189686668 VAR_001773 + P02461:p.Gly567Glu chr2 189686710 189686713 VAR_001774 + P02461:p.Gly582Ser chr2 189687396 189687399 VAR_011123 + P02461:p.Gly588Asp chr2 189687438 189687441 VAR_001775 + P02461:p.Pro602Thr chr2 189687964 189687967 VAR_001776 + P02461:p.Pro635Leu chr2 189687967 189687970 VAR_011124 + P02461:p.Gly636Arg chr2 189688542 189688545 VAR_011125 + P02461:p.Gly657Glu chr2 189688905 189688908 VAR_011126 + P02461:p.Gly660Asp chr2 189688923 189688926 VAR_001777 + P02461:p.Gly666Asp chr2 189688929 189688932 VAR_011127 + P02461:p.Pro668Thr chr2 189689585 189689588 VAR_001778 + P02461:p.Ala698Thr chr2 189689588 189689591 VAR_011128 + P02461:p.Gly699Arg chr2 189689755 189689758 VAR_001779 + P02461:p.Gly726Arg chr2 189689791 189689794 VAR_011129 + P02461:p.Gly738Ser chr2 189689791 189689794 VAR_011130 + P02461:p.Gly738Val chr2 189690073 189690076 VAR_011131 + P02461:p.Gly744Val chr2 189690109 189690112 VAR_001780 + P02461:p.Gly756Glu chr2 189691628 189691631 VAR_001781 + P02461:p.Gly762Cys chr2 189691785 189691788 VAR_001782 + P02461:p.Gly786Arg chr2 189692547 189692550 VAR_001783 + P02461:p.Gly804Ser chr2 189693222 189693225 VAR_001784 + P02461:p.Gly828Arg chr2 189693222 189693225 VAR_011132 + P02461:p.Gly828Trp chr2 189693228 189693255 VAR_037008 + P02461:p.830_838del chr2 189693642 189693645 VAR_011133 + P02461:p.Gly852Cys chr2 189693992 189693995 VAR_011134 + P02461:p.Gly879Val chr2 189694001 189694004 VAR_011135 + P02461:p.Gly882Asp chr2 189694249 189694252 VAR_011136 + P02461:p.Gly900Asp chr2 189694258 189694261 VAR_011137 + P02461:p.Gly903Glu chr2 189694276 189694279 VAR_001785 + P02461:p.Gly909Asp chr2 189694276 189694279 VAR_011138 + P02461:p.Gly909Val chr2 189694303 189694306 VAR_011139 + P02461:p.Gly918Glu chr2 189694321 189694324 VAR_011140 + P02461:p.Gly924Cys chr2 189694357 189694360 VAR_001786 + P02461:p.Gly936Arg chr2 189694357 189694360 VAR_001787 + P02461:p.Gly936Ser chr2 189694366 189694369 VAR_001788 + P02461:p.Gly939Asp chr2 189694488 189694491 VAR_011141 + P02461:p.Gly942Glu chr2 189694533 189694536 VAR_001789 + P02461:p.Gly957Ser chr2 189694542 189694545 VAR_001790 + P02461:p.Gly960Val chr2 189694560 189694563 VAR_011142 + P02461:p.Gly966Val chr2 189694578 189694581 VAR_011143 + P02461:p.Gly972Ala chr2 189695599 189695602 VAR_011144 + P02461:p.Gly984Thr chr2 189695635 189695638 VAR_001791 + P02461:p.Gly996Glu chr2 189695644 189695647 VAR_011145 + P02461:p.Gly999Arg chr2 189695680 189695683 VAR_011146 + P02461:p.Gly1011Glu chr2 189696437 189696440 VAR_001792 + P02461:p.Gly1014Glu chr2 189696576 189696579 VAR_011147 + P02461:p.Gly1032Val chr2 189696585 189696588 VAR_011148 + P02461:p.Gly1035Cys chr2 189696612 189696615 VAR_011149 + P02461:p.Gly1044Asp chr2 189696630 189696633 VAR_001793 + P02461:p.Gly1050Asp chr2 189696630 189696633 VAR_011150 + P02461:p.Gly1050Val chr2 189697177 189697180 VAR_001794 + P02461:p.Gly1071Val chr2 189697195 189697198 VAR_001795 + P02461:p.Gly1077Val chr2 189697740 189697743 VAR_011151 + P02461:p.Gly1089Asp chr2 189697767 189697770 VAR_011152 + P02461:p.Gly1098Asp chr2 189697767 189697770 VAR_011153 + P02461:p.Gly1098Val chr2 189697776 189697779 VAR_001796 + P02461:p.Gly1101Glu chr2 189697785 189697788 VAR_001797 + P02461:p.Gly1104Ala chr2 189698329 189698332 VAR_011154 + P02461:p.Gly1161Val chr2 189698338 189698341 VAR_011155 + P02461:p.Gly1164Glu chr2 189698338 189698341 VAR_011156 + P02461:p.Gly1164Arg chr2 189698338 189698341 VAR_001798 + P02461:p.Gly1164Ser chr2 189698347 189698350 VAR_001799 + P02461:p.Gly1167Val chr2 189698356 189698359 VAR_001800 + P02461:p.Gly1170Asp chr2 189698356 189698359 VAR_011157 + P02461:p.Gly1170Val chr2 189698365 189698368 VAR_001801 + P02461:p.Gly1173Glu chr2 189698365 189698368 VAR_011158 + P02461:p.Gly1173Arg chr2 189699155 189699158 VAR_001802 + P02461:p.Gly1176Val chr2 189699164 189699167 VAR_011159 + P02461:p.Gly1179Arg chr2 189699173 189699176 VAR_001803 + P02461:p.Gly1182Glu chr2 189699182 189699185 VAR_001804 + P02461:p.Gly1185Asp chr2 189699182 189699185 VAR_001805 + P02461:p.Gly1185Val chr2 189699191 189699194 VAR_001806 + P02461:p.Gly1188Glu chr2 189699191 189699194 VAR_001807 + P02461:p.Gly1188Arg chr2 189699242 189699245 VAR_020012 + P02461:p.Ile1205Val chr2 189700924 189700927 VAR_030115 + P02461:p.His1353Gln chr2 189701904 189701907 VAR_035739 + P02461:p.Arg1434Cys chr19 6669384 6669387 VAR_001983 - P01024:p.Arg102Gly chr19 6664260 6664263 VAR_001984 - P01024:p.Pro314Leu chr19 6662069 6662072 VAR_020262 - P01024:p.Glu469Asp chr19 6661688 6661691 VAR_001985 - P01024:p.Asp549Asn chr19 6648561 6648564 VAR_019206 - P01024:p.Arg863Lys chr19 6637272 6637275 VAR_019207 - P01024:p.Gly1224Asp chr19 6636007 6636010 VAR_001986 - P01024:p.Arg1320Gln chr19 6635589 6635592 VAR_019208 - P01024:p.Ile1367Thr chr19 6630202 6630205 VAR_029792 - P01024:p.Gln1521Arg chr19 6629209 6629212 VAR_029793 - P01024:p.His1601Asn chr19 6629027 6629030 VAR_029326 - P01024:p.Ser1619Arg chr13 109757354 109757357 VAR_030027 - P02462:p.Val7Leu chr13 109637548 109637551 VAR_030511 - P02462:p.Thr555Pro chr13 109637527 109637530 VAR_030028 - P02462:p.Gly562Glu chr13 109629715 109629718 VAR_030029 - P02462:p.Gly749Ser chr13 109624809 109624812 VAR_030030 - P02462:p.Gly1130Asp chr13 109620928 109620931 VAR_030031 - P02462:p.Gly1236Arg chr13 109616598 109616601 VAR_020013 - P02462:p.Gln1334His chr13 109612770 109612773 VAR_030032 - P02462:p.Gly1423Arg chr2 227928227 227928230 VAR_011202 + Q01955:p.Gly43Arg chr2 227936938 227936941 VAR_030944 + Q01955:p.Leu141Pro chr2 227938678 227938681 VAR_011203 + Q01955:p.Glu162Gly chr2 227946246 227946249 VAR_011204 + Q01955:p.Gly297Glu chr2 227946605 227946608 VAR_011205 + Q01955:p.Asp326Tyr chr2 227954068 227954071 VAR_011206 + Q01955:p.Gly407Arg chr2 227954071 227954074 VAR_011207 + Q01955:p.Arg408His chr2 227956672 227956675 VAR_011208 + Q01955:p.His451Arg chr2 227961008 227961011 VAR_030945 + Q01955:p.Gly532Asp chr2 227961134 227961137 VAR_011209 + Q01955:p.Pro574Leu chr2 227963328 227963331 VAR_011210 + Q01955:p.Gly640Arg chr2 227970102 227970105 VAR_030946 + Q01955:p.Gly739Arg chr2 227972653 227972656 VAR_030947 + Q01955:p.Gly853Arg chr2 227979441 227979444 VAR_030948 + Q01955:p.Gly985Val chr2 227980281 227980284 VAR_030949 + Q01955:p.Gly1015Glu chr2 227985264 227985267 VAR_011211 + Q01955:p.Gly1167Arg chr2 227987947 227987950 VAR_011212 + Q01955:p.Gly1207Glu chr2 227987971 227987974 VAR_011213 + Q01955:p.Arg1215Gln chr2 227987974 227987977 VAR_030950 + Q01955:p.Gly1216Arg chr2 227988955 227988958 VAR_011214 + Q01955:p.Asp1269Glu chr2 227988979 227988982 VAR_011215 + Q01955:p.Gly1277Ser chr2 227994111 227994114 VAR_011216 + Q01955:p.Ile1330Thr chr2 227994123 227994126 VAR_011217 + Q01955:p.Gly1334Glu chr2 227994250 227994253 VAR_011218 + Q01955:p.Asp1347Glu chr2 227998097 227998100 VAR_001908 + Q01955:p.Leu1474Pro chr2 227999139 227999142 VAR_001909 + Q01955:p.Gln1495Arg chr2 228002058 228002061 VAR_011219 + Q01955:p.Arg1661Cys chrX 107239830 107239833 VAR_015216 - Q14031:p.Ser455Ala chrX 107220242 107220245 VAR_015217 - Q14031:p.Asn1110Lys chrX 107220194 107220197 VAR_032972 - Q14031:p.Pro1126Ser chrX 107219993 107219996 VAR_032973 - Q14031:p.Ile1162Val chrX 107212399 107212402 VAR_032974 - Q14031:p.Leu1362Pro chr6 32092894 32092897 VAR_019778 + P0C0L4:p.Ser347Tyr chr6 32100311 32100314 VAR_001987 + P0C0L4:p.Arg477Trp chr6 32102021 32102024 VAR_001988 + P0C0L4:p.Pro726Leu chr6 32102024 32102027 VAR_019779 + P0C0L4:p.Asp727Asn chr6 32103116 32103119 VAR_019780 + P0C0L4:p.Ala907Thr chr6 32104273 32104276 VAR_001989 + P0C0L4:p.Asp1073Gly chr6 32104942 32104945 VAR_001991 + P0C0L4:p.Asn1176Ser chr6 32105035 32105038 VAR_001993 + P0C0L4:p.Val1207Ala chr6 32105044 32105047 VAR_001994 + P0C0L4:p.Leu1210Arg chr6 32105500 32105503 VAR_001995 + P0C0L4:p.Ser1286Ala chr9 134868598 134868601 VAR_015412 + P20908:p.Gly530Ser chr9 134937924 134937927 VAR_015413 + P20908:p.Gly1489Asp chr9 134942606 134942609 VAR_001808 + P20908:p.Cys1639Ser chr19 9977506 9977509 VAR_020015 - P25940:p.Arg134His chr19 9945290 9945293 VAR_020016 - P25940:p.Arg1207Pro chr19 9940090 9940093 VAR_020017 - P25940:p.Val1428Met chr19 9937989 9937992 VAR_020018 - P25940:p.Ile1594Met chr19 9932344 9932347 VAR_020019 - P25940:p.Val1691Ile chr2 238056538 238056541 VAR_001910 - P12111:p.Gly1679Glu chr5 41235714 41235717 VAR_006056 - P13671:p.Ala119Glu chr5 41208183 41208186 VAR_027647 - P13671:p.Lys397Glu chr5 41197599 41197602 VAR_027648 - P13671:p.Ser470Phe chr3 48606042 48606045 VAR_035740 - Q02388:p.Thr119Pro chr3 48605973 48605976 VAR_001809 - Q02388:p.Lys142Arg chr3 48603016 48603019 VAR_001810 - Q02388:p.Pro595Leu chr3 48598126 48598129 VAR_001811 - Q02388:p.Pro1277Leu chr3 48597176 48597179 VAR_011160 - Q02388:p.Gly1347Arg chr3 48596948 48596951 VAR_035741 - Q02388:p.Pro1364Thr chr3 48596942 48596945 VAR_035742 - Q02388:p.Arg1366Trp chr3 48595051 48595054 VAR_011161 - Q02388:p.Gly1519Asp chr3 48594947 48594950 VAR_011162 - Q02388:p.Gly1522Glu chr3 48594193 48594196 VAR_001812 - Q02388:p.Gly1557Arg chr3 48593917 48593920 VAR_015519 - Q02388:p.Gly1595Arg chr3 48593890 48593893 VAR_011163 - Q02388:p.Gly1604Arg chr3 48593342 48593345 VAR_011164 - Q02388:p.Gly1652Arg chr3 48592482 48592485 VAR_011165 - Q02388:p.Gly1703Glu chr3 48591705 48591708 VAR_011166 - Q02388:p.Arg1772Trp chr3 48591693 48591696 VAR_011167 - Q02388:p.Gly1776Arg chr3 48591675 48591678 VAR_001813 - Q02388:p.Gly1782Arg chr3 48591648 48591651 VAR_011168 - Q02388:p.Gly1791Glu chr3 48590940 48590943 VAR_011169 - Q02388:p.Gly1812Arg chr3 48590931 48590934 VAR_015520 - Q02388:p.Gly1815Arg chr3 48588095 48588098 VAR_001814 - Q02388:p.Gly1982Trp chr3 48587946 48587949 VAR_001815 - Q02388:p.Gly2003Arg chr3 48587937 48587940 VAR_011170 - Q02388:p.Gly2006Ala chr3 48587937 48587940 VAR_011171 - Q02388:p.Gly2006Asp chr3 48587931 48587934 VAR_011172 - Q02388:p.Arg2008Cys chr3 48587931 48587934 VAR_001816 - Q02388:p.Arg2008Gly chr3 48587928 48587931 VAR_011173 - Q02388:p.Gly2009Arg chr3 48587910 48587913 VAR_011174 - Q02388:p.Gly2015Glu chr3 48587880 48587883 VAR_001817 - Q02388:p.Gly2025Ala chr3 48587871 48587874 VAR_011175 - Q02388:p.Gly2028Ala chr3 48587871 48587874 VAR_011176 - Q02388:p.Gly2028Arg chr3 48587862 48587865 VAR_011177 - Q02388:p.Gly2031Ser chr3 48587853 48587856 VAR_001818 - Q02388:p.Gly2034Arg chr3 48587853 48587856 VAR_011178 - Q02388:p.Gly2034Trp chr3 48587844 48587847 VAR_011179 - Q02388:p.Gly2037Glu chr3 48587835 48587838 VAR_011180 - Q02388:p.Gly2040Asp chr3 48587835 48587838 VAR_001819 - Q02388:p.Gly2040Ser chr3 48587835 48587838 VAR_011181 - Q02388:p.Gly2040Val chr3 48587826 48587829 VAR_001820 - Q02388:p.Gly2043Arg chr3 48587826 48587829 VAR_011182 - Q02388:p.Gly2043Trp chr3 48587817 48587820 VAR_011183 - Q02388:p.Gly2046Val chr3 48587808 48587811 VAR_001821 - Q02388:p.Gly2049Glu chr3 48587790 48587793 VAR_001822 - Q02388:p.Gly2055Glu chr3 48587670 48587673 VAR_001823 - Q02388:p.Arg2063Trp chr3 48587667 48587670 VAR_011184 - Q02388:p.Gly2064Arg chr3 48587560 48587563 VAR_001825 - Q02388:p.Gly2073Asp chr3 48587551 48587554 VAR_001826 - Q02388:p.Gly2076Asp chr3 48587542 48587545 VAR_001827 - Q02388:p.Gly2079Glu chr3 48587542 48587545 VAR_011185 - Q02388:p.Gly2079Arg chr3 48586984 48586987 VAR_011186 - Q02388:p.Gly2132Asp chr3 48585991 48585994 VAR_011187 - Q02388:p.Gly2192Ser chr3 48585782 48585785 VAR_011188 - Q02388:p.Gly2207Arg chr3 48585481 48585484 VAR_001828 - Q02388:p.Gly2242Arg chr3 48585376 48585379 VAR_011189 - Q02388:p.Gly2251Glu chr3 48585340 48585343 VAR_011190 - Q02388:p.Gly2263Val chr3 48585146 48585149 VAR_011191 - Q02388:p.Gly2287Arg chr3 48584846 48584849 VAR_011192 - Q02388:p.Gly2316Arg chr3 48584461 48584464 VAR_011193 - Q02388:p.Gly2348Arg chr3 48584452 48584455 VAR_001829 - Q02388:p.Gly2351Arg chr3 48583685 48583688 VAR_011194 - Q02388:p.Gly2366Ser chr3 48583594 48583597 VAR_011195 - Q02388:p.Gly2369Ser chr3 48583132 48583135 VAR_033786 - Q02388:p.Pro2429Leu chr3 48581271 48581274 VAR_001830 - Q02388:p.Gly2569Arg chr3 48581253 48581256 VAR_001831 - Q02388:p.Gly2575Arg chr3 48580532 48580535 VAR_001832 - Q02388:p.Gly2623Cys chr3 48580170 48580173 VAR_001833 - Q02388:p.Gly2653Arg chr3 48580043 48580046 VAR_001834 - Q02388:p.Gly2671Val chr3 48580034 48580037 VAR_011196 - Q02388:p.Gly2674Asp chr3 48580034 48580037 VAR_001835 - Q02388:p.Gly2674Arg chr3 48579430 48579433 VAR_011197 - Q02388:p.Gly2713Asp chr3 48579430 48579433 VAR_011198 - Q02388:p.Gly2713Arg chr3 48579349 48579352 VAR_011199 - Q02388:p.Gly2740Ala chr3 48579153 48579156 VAR_001836 - Q02388:p.Gly2749Arg chr3 48578979 48578982 VAR_011200 - Q02388:p.Gly2775Ser chr3 48578737 48578740 VAR_011201 - Q02388:p.Arg2791Trp chr3 48578716 48578719 VAR_001837 - Q02388:p.Met2798Lys chr5 40981146 40981149 VAR_012643 + P10643:p.Arg220Gln chr5 40991286 40991289 VAR_012644 + P10643:p.Gly379Arg chr5 40991316 40991319 VAR_033798 + P10643:p.Ser389Thr chr5 40991409 40991412 VAR_022023 + P10643:p.Lys420Gln chr5 40995378 40995381 VAR_012645 + P10643:p.Arg521Ser chr5 41000608 41000611 VAR_033799 + P10643:p.Thr587Pro chr5 41008422 41008425 VAR_012646 + P10643:p.Glu682Gln chr5 41008437 41008440 VAR_012647 + P10643:p.Arg687His chr1 36234927 36234930 VAR_017893 - P25067:p.Gly3Arg chr1 36233909 36233912 VAR_017894 - P25067:p.Arg155Gln chr1 36233462 36233465 VAR_017895 - P25067:p.Arg304Gln chr1 36233303 36233306 VAR_017896 - P25067:p.Gly357Arg chr1 36233072 36233075 VAR_017897 - P25067:p.Arg434His chr1 36233009 36233012 VAR_017898 - P25067:p.Gln455Lys chr1 36232868 36232871 VAR_021387 - P25067:p.Thr502Met chr1 36232649 36232652 VAR_017899 - P25067:p.Pro575Leu chr1 36232439 36232442 VAR_017900 - P25067:p.Thr645Ile chr1 57052747 57052750 VAR_011889 + P07357:p.Gln93Lys chr1 57084482 57084485 VAR_011890 + P07357:p.Thr407Ile chr1 57085798 57085801 VAR_033800 + P07357:p.Asp458Asn chr1 57090168 57090171 VAR_011891 + P07357:p.Arg485Leu chr1 57095335 57095338 VAR_011892 + P07357:p.Glu561Gln chr1 57095377 57095380 VAR_033801 + P07357:p.Pro575Leu chr1 57134529 57134532 VAR_027649 - P07358:p.Glu108Lys chr1 57127329 57127332 VAR_027650 - P07358:p.Pro261Leu chr9 137115988 137115991 VAR_014668 + P07360:p.Arg69Gln chr9 137116396 137116399 VAR_014669 + P07360:p.His124Asn chr6 71041154 71041157 VAR_026463 - P20849:p.Ser339Pro chr6 71018552 71018555 VAR_026464 - P20849:p.Gln621Arg chr1 40445028 40445031 VAR_026465 - Q14055:p.Thr246Met chr1 40442240 40442243 VAR_012659 - Q14055:p.Gln326Arg chr1 40442240 40442243 VAR_012658 - Q14055:p.Gln326Trp chr1 40442213 40442216 VAR_026466 - Q14055:p.Leu335Val chr1 40437434 40437437 VAR_020014 - Q14055:p.Val581Ile chr20 60921776 60921779 VAR_026467 + Q14050:p.Arg103Gln chr20 60921776 60921779 VAR_026468 + Q14050:p.Arg103Trp chr20 60929758 60929761 VAR_026469 + Q14050:p.Pro296Leu chr20 60932198 60932201 VAR_026470 + Q14050:p.Arg402Gln chr20 60933965 60933968 VAR_026471 + Q14050:p.Ala435Glu chr20 60938962 60938971 VAR_012660 + Q14050:p.563_565del chr20 60938965 60938974 VAR_012661 + Q14050:p.564_566del chr5 39400308 39400311 VAR_022024 - P02748:p.Arg5Trp chr5 39377123 39377126 VAR_012648 - P02748:p.Cys119Gly chr5 39367540 39367543 VAR_027651 - P02748:p.Ile203Val chr5 39351666 39351669 VAR_033802 - P02748:p.Thr279Ser chr6 116553294 116553297 VAR_001838 - Q03692:p.Gly18Glu chr6 116553294 116553297 VAR_001839 - Q03692:p.Gly18Arg chr6 116553267 116553270 VAR_023186 - Q03692:p.Met27Thr chr6 116549377 116549380 VAR_023187 - Q03692:p.Arg198His chr6 116548336 116548339 VAR_001840 - Q03692:p.Gly545Arg chr6 116548225 116548228 VAR_023188 - Q03692:p.Tyr582Asp chr6 116548198 116548201 VAR_001841 - Q03692:p.Cys591Arg chr6 116548186 116548189 VAR_001842 - Q03692:p.Gly595Glu chr6 116548186 116548189 VAR_023189 - Q03692:p.Gly595Arg chr6 116548180 116548183 VAR_008039 - Q03692:p.Tyr597Cys chr6 116548180 116548183 VAR_001843 - Q03692:p.Tyr597His chr6 116548177 116548180 VAR_001844 - Q03692:p.Tyr598Asp chr6 116548171 116548174 VAR_001845 - Q03692:p.Ser600Pro chr6 116548162 116548165 VAR_023190 - Q03692:p.Val603Met chr6 116548129 116548132 VAR_001846 - Q03692:p.Leu614Pro chr6 116548120 116548123 VAR_001847 - Q03692:p.Asn617Lys chr6 116548117 116548120 VAR_001848 - Q03692:p.Gly618Val chr6 116548039 116548042 VAR_001849 - Q03692:p.Leu644Arg chr6 116548027 116548030 VAR_001850 - Q03692:p.Asp648Gly chr6 116548018 116548021 VAR_023191 - Q03692:p.Trp651Arg chr6 116548012 116548015 VAR_023192 - Q03692:p.Gln653Pro chr6 116547958 116547961 VAR_023193 - Q03692:p.Ser671Pro chr17 37968328 37968331 VAR_030299 + Q13057:p.Ser55Tyr chr6 33254101 33254104 VAR_013591 - P13942:p.Asp593Gly chr6 33253895 33253898 VAR_025276 - P13942:p.Pro621Thr chr6 33252968 33252971 VAR_001907 - P13942:p.Gly661Arg chr6 33250287 33250290 VAR_010655 - P13942:p.Gly808Glu chr6 33249931 33249934 VAR_013592 - P13942:p.Glu824Lys chr6 33249301 33249304 VAR_013593 - P13942:p.Pro879Leu chr6 33248338 33248365 VAR_013594 - P13942:p.940_948del chr6 33247515 33247518 VAR_010656 - P13942:p.Arg1034Cys chr6 33244285 33244288 VAR_013596 - P13942:p.Pro1316Thr chr6 33242489 33242492 VAR_013595 - P13942:p.Gly1441Glu chr6 33240669 33240672 VAR_013597 - P13942:p.Arg1600Gln chr6 33240207 33240210 VAR_033797 - P13942:p.Glu1628Asp chr7 50871270 50871273 VAR_029043 - O75128:p.Asp577Ala chr7 50871180 50871183 VAR_029044 - O75128:p.Val607Ile chr7 50870220 50870223 VAR_029045 - O75128:p.Asp927Asn chr7 50869956 50869959 VAR_029046 - O75128:p.Ala1015Pro chr14 30416596 30416599 VAR_008532 + O43405:p.Pro51Ser chr14 30416641 30416644 VAR_008533 + O43405:p.Val66Gly chr14 30417789 30417792 VAR_008534 + O43405:p.Gly88Glu chr14 30417852 30417855 VAR_008535 + O43405:p.Ile109Asn chr14 30417876 30417879 VAR_008536 + O43405:p.Trp117Arg chr14 30417882 30417885 VAR_017175 + O43405:p.Ala119Thr chr14 30418408 30418411 VAR_022259 + O43405:p.Gly135Arg chr14 30424457 30424460 VAR_022260 + O43405:p.Asp281Asn chr14 30424845 30424848 VAR_011925 + O43405:p.Thr352Ser chr14 30424995 30424998 VAR_022261 + O43405:p.Ile402Val chr14 30428688 30428691 VAR_011926 + O43405:p.Pro532Ser chr14 34252416 34252419 VAR_031989 - Q9Y281:p.Ala35Thr chr14 34252380 34252383 VAR_036458 - Q9Y281:p.Ile47Met chr9 98827787 98827790 VAR_033787 + P39059:p.Arg163His chr9 98827910 98827913 VAR_033788 + P39059:p.Met204Val chr9 98845394 98845397 VAR_033789 + P39059:p.Thr391Met chr9 98846857 98846860 VAR_033790 + P39059:p.Ala442Thr chr9 98846869 98846872 VAR_033791 + P39059:p.Gly446Arg chr9 98857824 98857827 VAR_033792 + P39059:p.Glu506Asp chr9 98857899 98857902 VAR_033793 + P39059:p.Pro531Arg chr9 98896426 98896429 VAR_033794 + P39059:p.Lys989Arg chr9 98896462 98896465 VAR_033795 + P39059:p.Lys1001Arg chr9 98911549 98911552 VAR_033796 + P39059:p.Val1332Ile chr17 68708402 68708405 VAR_020415 + Q8WTW3:p.Asn392Ser chr1 227117488 227117491 VAR_029274 + Q14746:p.Asn304Lys chr13 44988326 44988329 VAR_036454 + Q96JB2:p.Arg620Cys chr1 31834586 31834589 VAR_031440 - Q07092:p.Thr62Lys chr10 105814321 105814324 VAR_017593 - Q9UMD9:p.Thr210Met chr10 105814258 105814261 VAR_017594 - Q9UMD9:p.Met231Ile chr10 105814237 105814240 VAR_017595 - Q9UMD9:p.Met238Thr chr10 105813537 105813540 VAR_017596 - Q9UMD9:p.Ser265Cys chr10 105806903 105806906 VAR_017597 - Q9UMD9:p.Gly428Ser chr10 105802836 105802839 VAR_017598 - Q9UMD9:p.Gly627Val chr10 105802818 105802821 VAR_017599 - Q9UMD9:p.Gly633Asp chr10 105800387 105800390 VAR_017600 - Q9UMD9:p.Met703Val chr10 105783939 105783942 VAR_017601 - Q9UMD9:p.Arg1303Gln chr10 105783738 105783741 VAR_017602 - Q9UMD9:p.Asp1370Gly chr21 45700016 45700019 VAR_018053 + P39060:p.Gln49Leu chr21 45700202 45700205 VAR_018054 + P39060:p.Gly111Arg chr21 45748859 45748862 VAR_018056 + P39060:p.Pro1121Arg chr6 70790266 70790269 VAR_024419 + Q14993:p.Ala352Gly chr6 70800857 70800860 VAR_035746 + Q14993:p.Gly361Asp chr6 70956766 70956769 VAR_035747 + Q14993:p.Lys1019Asn chr2 3184915 3184918 VAR_038143 + Q9BWP8:p.His219Arg chr6 56143600 56143603 VAR_038555 - Q96P44:p.Leu277Pro chr6 56141051 56141054 VAR_038556 - Q96P44:p.Thr343Met chr6 56114689 56114692 VAR_038557 - Q96P44:p.Ile495Thr chr6 56097019 56097022 VAR_038558 - Q96P44:p.Gly560Ser chr6 56033758 56033761 VAR_038559 - Q96P44:p.Ala747Asp chr6 56032919 56032922 VAR_038560 - Q96P44:p.Leu821Pro chr6 56032901 56032904 VAR_038561 - Q96P44:p.Pro827Ala chr2 25299271 25299274 VAR_010699 - P01189:p.Ser7Thr chr2 25299265 25299268 VAR_010700 - P01189:p.Ser9Leu chr2 25296218 25296221 VAR_029762 - P01189:p.Pro62Leu chr2 25296107 25296116 VAR_010714 - P01189:p.97_99del chr2 25296086 25296089 VAR_010715 - P01189:p.Asp106Asn chr2 25296008 25296011 VAR_029314 - P01189:p.Pro132Ala chr2 25295762 25295765 VAR_010716 - P01189:p.Glu214Gly chr2 25295696 25295699 VAR_010701 - P01189:p.Arg236Gly chr2 25295696 25295699 VAR_012201 - P01189:p.Arg236Gln chr3 15506077 15506080 VAR_010133 - Q9Y215:p.Pro59Gln chr3 15473018 15473021 VAR_010134 - Q9Y215:p.Asp342Glu chr3 15470407 15470410 VAR_010135 - Q9Y215:p.Arg410Gln chr3 15470347 15470350 VAR_010136 - Q9Y215:p.Tyr430Ser chr3 15468190 15468193 VAR_010137 - Q9Y215:p.Cys444Tyr chr8 139818978 139818981 VAR_038563 - Q8NFW1:p.Pro703Thr chr8 139770389 139770392 VAR_038564 - Q8NFW1:p.Ala938Asp chr3 150951225 150951228 VAR_028010 - Q86X83:p.Ile113Leu chr3 150942074 150942077 VAR_028011 - Q86X83:p.Gln177His chr8 146047509 146047512 VAR_020130 - Q9GZQ3:p.Ala6Thr chr22 18324702 18324705 VAR_013925 + P21964:p.Cys34Ser chr22 18324816 18324819 VAR_013926 + P21964:p.Ala72Ser chr22 18325656 18325659 VAR_020274 + P21964:p.Ala102Thr chr22 18325788 18325791 VAR_020275 + P21964:p.Ala146Val chr22 18325824 18325827 VAR_005139 + P21964:p.Val158Met chr5 177615980 177615983 VAR_026964 - Q86Y22:p.Thr287Ala chr1 157074901 157074904 VAR_033803 - P53621:p.Val1040Gly chr11 117959841 117959844 VAR_011788 + P48444:p.Phe186Leu chr11 117966371 117966374 VAR_011789 + P48444:p.Lys309Asn chr9 113098054 113098057 VAR_029338 + O15431:p.Pro25Ala chr14 73497751 73497754 VAR_033813 + Q9Y2Z9:p.Asp339Val chr14 73497998 73498001 VAR_033814 + Q9Y2Z9:p.Thr395Met chr14 73498197 73498200 VAR_014953 + Q9Y2Z9:p.Val406Met chr16 30107359 30107362 VAR_011956 + P31146:p.Arg415Lys chr16 30107726 30107729 VAR_011957 + P31146:p.Thr443Pro chr11 66962828 66962831 VAR_035877 - Q9BR76:p.Val411Met chr15 66794688 66794691 VAR_035878 + Q9UQ03:p.Pro313Leu chr7 7344332 7344335 VAR_038566 - Q2UY09:p.Ala189Gly chr7 7334817 7334820 VAR_038567 - Q2UY09:p.Ile239Val chr7 7318929 7318932 VAR_038568 - Q2UY09:p.Thr327Ser chr7 7287474 7287477 VAR_038569 - Q2UY09:p.Glu433Asp chr7 7266334 7266337 VAR_038570 - Q2UY09:p.Ala472Pro chr7 7193715 7193718 VAR_038571 - Q2UY09:p.Arg741Gln chr17 13946245 13946248 VAR_026562 + Q12887:p.Thr196Lys chr17 13946269 13946272 VAR_026563 + Q12887:p.Asn204Lys chr17 14003966 14003969 VAR_026564 + Q12887:p.Pro225Leu chr17 14050928 14050931 VAR_026565 + Q12887:p.Asp336Gly chr17 14050928 14050931 VAR_026566 + Q12887:p.Asp336Val chr10 101473801 101473804 VAR_019596 - Q7KZN9:p.Arg217Trp chr10 101466163 101466166 VAR_033117 - Q7KZN9:p.Ser344Pro chr16 84396081 84396084 VAR_002170 + P13073:p.Tyr38Phe chr20 29696332 29696335 VAR_033815 + Q96KJ9:p.Arg161His chr16 56611599 56611602 VAR_030277 + Q9BQ65:p.Gln250Glu chr16 2454111 2454114 VAR_032115 + Q7L2K0:p.Arg346Lys chr16 79588467 79588470 VAR_033816 - Q9NRP2:p.Thr11Ser chr16 9118102 9118105 VAR_034657 + Q14CZ0:p.Asn221Ser chr16 69248489 69248492 VAR_033164 + Q6ZMJ4:p.Glu123Gln chr16 47987893 47987896 VAR_034632 + Q8WTQ4:p.Arg152Gln chr16 87307239 87307242 VAR_032595 + Q2VPK5:p.Met253Val chr16 87307675 87307678 VAR_032596 + Q2VPK5:p.Val332Ile chr16 87308539 87308542 VAR_032597 + Q2VPK5:p.Gln416Arg chr15 72424495 72424498 VAR_016949 - P05108:p.Ala189Val chr15 72423198 72423201 VAR_016950 - P05108:p.Asp271Asp chr15 72422418 72422421 VAR_013944 - P05108:p.Glu314Lys chr15 72419078 72419081 VAR_016951 - P05108:p.Arg353Trp chr10 104587042 104587045 VAR_011755 - P05093:p.Cys22Trp chr10 104587003 104587006 VAR_022745 - P05093:p.Pro35Leu chr10 104586949 104586952 VAR_001270 - P05093:p.53del chr10 104586916 104586919 VAR_001271 - P05093:p.Tyr64Ser chr10 104586829 104586832 VAR_013147 - P05093:p.Phe93Cys chr10 104586820 104586823 VAR_022746 - P05093:p.Arg96Trp chr10 104585118 104585121 VAR_001272 - P05093:p.Ser106Pro chr10 104585100 104585103 VAR_001273 - P05093:p.Ile112Ile chr10 104585094 104585097 VAR_022747 - P05093:p.Phe114Val chr10 104585088 104585091 VAR_022748 - P05093:p.Asp116Val chr10 104584666 104584669 VAR_022749 - P05093:p.Asn177Asp chr10 104582409 104582412 VAR_022750 - P05093:p.Tyr329Asp chr10 104582406 104582409 VAR_022751 - P05093:p.330del chr10 104582370 104582373 VAR_001274 - P05093:p.Pro342Thr chr10 104582355 104582358 VAR_022752 - P05093:p.Arg347Cys chr10 104582355 104582358 VAR_001275 - P05093:p.Arg347His chr10 104582322 104582325 VAR_001276 - P05093:p.Arg358Gln chr10 104582310 104582313 VAR_022753 - P05093:p.Arg362Cys chr10 104582277 104582280 VAR_001277 - P05093:p.His373Leu chr10 104581279 104581282 VAR_022754 - P05093:p.Trp406Arg chr10 104580724 104580727 VAR_022755 - P05093:p.Phe417Cys chr10 104580691 104580694 VAR_022756 - P05093:p.Pro428Leu chr10 104580655 104580658 VAR_001278 - P05093:p.Arg440His chr10 104580508 104580517 VAR_001279 - P05093:p.487_489del chr10 104580487 104580490 VAR_001280 - P05093:p.Arg496Cys chr10 104580487 104580490 VAR_022757 - P05093:p.Arg496His chr15 49322284 49322287 VAR_023428 - P11511:p.Trp39Arg chr15 49301862 49301865 VAR_023429 - P11511:p.Thr201Met chr15 49295257 49295260 VAR_018406 - P11511:p.Arg264Cys chr15 49291976 49291979 VAR_016962 - P11511:p.Arg365Gln chr15 49291946 49291949 VAR_016963 - P11511:p.Arg375Cys chr15 49290503 49290506 VAR_016964 - P11511:p.Arg435Cys chr15 49290497 49290500 VAR_016965 - P11511:p.Cys437Tyr chr15 72802356 72802359 VAR_023194 - P04798:p.Gly45Asp chr15 72802293 72802296 VAR_033817 - P04798:p.Met66Val chr15 72802257 72802260 VAR_023195 - P04798:p.Ile78Thr chr15 72802212 72802215 VAR_024706 - P04798:p.Arg93Trp chr15 72801972 72801975 VAR_024707 - P04798:p.Thr173Arg chr15 72801099 72801102 VAR_009280 - P04798:p.Arg279Trp chr15 72801078 72801081 VAR_020122 - P04798:p.Ile286Thr chr15 72800856 72800859 VAR_016937 - P04798:p.Met331Ile chr15 72800077 72800080 VAR_016938 - P04798:p.Ile448Asn chr15 72800038 72800041 VAR_008342 - P04798:p.Thr461Asn chr15 72800035 72800038 VAR_001243 - P04798:p.Ile462Val chr15 72800029 72800032 VAR_016939 - P04798:p.Arg464Cys chr15 72800029 72800032 VAR_016940 - P04798:p.Arg464Ser chr15 72800011 72800014 VAR_033818 - P04798:p.Phe470Val chr15 72799990 72799993 VAR_016941 - P04798:p.Arg477Trp chr15 72799975 72799978 VAR_024708 - P04798:p.Val482Met chr15 72799945 72799948 VAR_016942 - P04798:p.Pro492Arg chr20 33544762 33544765 VAR_015649 + Q9BV73:p.Gln995His chr20 33553931 33553934 VAR_021858 + Q9BV73:p.Arg1441Gln chr2 72274089 72274092 VAR_038722 - Q9NR63:p.Val181Met chr2 72274077 72274080 VAR_038723 - Q9NR63:p.Ala185Val chr2 72274059 72274062 VAR_038724 - Q9NR63:p.Arg191His chr2 72273951 72273954 VAR_038725 - Q9NR63:p.Asp227Asn chr2 72273613 72273616 VAR_024383 - Q9NR63:p.Leu264Ser chr2 72271812 72271815 VAR_038726 - Q9NR63:p.Glu380Lys chr2 72271289 72271292 VAR_038727 - Q9NR63:p.Ala420Gly chr2 72271130 72271133 VAR_038728 - Q9NR63:p.Arg473Cys chr2 72271112 72271115 VAR_038729 - Q9NR63:p.Val479Ile chr10 94814154 94814157 VAR_022886 + Q6V0L0:p.Arg245Gln chr2 219499981 219499984 VAR_016966 + Q02318:p.Gly145Glu chr2 219504413 219504415 VAR_001303 + Q02318:p.Arg395Cys chr2 219504607 219504608 VAR_001303 + Q02318:p.Arg395Cys chr2 219504413 219504415 VAR_012285 + Q02318:p.Arg395Ser chr2 219504607 219504608 VAR_012285 + Q02318:p.Arg395Ser chr2 219504635 219504638 VAR_012286 + Q02318:p.Arg405Gln chr2 219504928 219504931 VAR_012287 + Q02318:p.Arg474Gln chr2 219504928 219504931 VAR_012288 + Q02318:p.Arg474Trp chr2 219504943 219504946 VAR_001304 + Q02318:p.Arg479Cys chr12 56446896 56446899 VAR_016969 - O15528:p.Gln65His chr12 56446121 56446124 VAR_016952 - O15528:p.Arg107His chr12 56446067 56446070 VAR_016953 - O15528:p.Gly125Glu chr12 56445437 56445440 VAR_018841 - O15528:p.Val166Leu chr12 56445368 56445371 VAR_016954 - O15528:p.Glu189Gly chr12 56445368 56445371 VAR_016967 - O15528:p.Glu189Lys chr12 56444803 56444806 VAR_016955 - O15528:p.Thr321Arg chr12 56444594 56444597 VAR_016970 - O15528:p.Ser323Tyr chr12 56444558 56444561 VAR_016956 - O15528:p.Arg335Pro chr12 56444534 56444537 VAR_016957 - O15528:p.Leu343Phe chr12 56444216 56444219 VAR_016958 - O15528:p.Pro382Ser chr12 56444195 56444198 VAR_016968 - O15528:p.Arg389Cys chr12 56444195 56444198 VAR_016960 - O15528:p.Arg389Gly chr12 56444195 56444198 VAR_016959 - O15528:p.Arg389His chr12 56443846 56443849 VAR_016961 - O15528:p.Thr409Ile chr12 56443786 56443789 VAR_016971 - O15528:p.Arg429Pro chr12 56443714 56443717 VAR_016972 - O15528:p.Arg453Cys chr12 56443284 56443287 VAR_016973 - O15528:p.Val478Gly chr12 56443227 56443230 VAR_016974 - O15528:p.Pro497Arg chr19 46048156 46048159 VAR_018330 - P11509:p.Gly5Arg chr19 46048084 46048087 VAR_018331 - P11509:p.Ser29Asn chr19 46046497 46046500 VAR_024711 - P11509:p.Phe118Leu chr19 46046467 46046470 VAR_011577 - P11509:p.Arg128Gln chr19 46046371 46046374 VAR_001249 - P11509:p.Leu160His chr19 46046035 46046038 VAR_018332 - P11509:p.Lys194Glu chr19 46046008 46046011 VAR_018333 - P11509:p.Arg203Ser chr19 46044778 46044781 VAR_024712 - P11509:p.Ser224Pro chr19 46043104 46043107 VAR_024713 - P11509:p.Val365Met chr19 46042424 46042427 VAR_024714 - P11509:p.Asn418Asp chr19 46042421 46042424 VAR_018375 - P11509:p.Glu419Asp chr19 46041612 46041615 VAR_011578 - P11509:p.Ile471Thr chr19 46041597 46041600 VAR_024715 - P11509:p.Lys476Arg chr19 46041588 46041591 VAR_008356 - P11509:p.Gly479Val chr19 46041570 46041573 VAR_011579 - P11509:p.Arg485Leu chr19 46286288 46286291 VAR_018334 + Q16696:p.Arg25Gln chr19 46286793 46286796 VAR_018335 + Q16696:p.Arg101Gln chr19 46287847 46287850 VAR_018336 + Q16696:p.Thr134Thr chr19 46287919 46287922 VAR_018337 + Q16696:p.Asp158Glu chr19 46289590 46289593 VAR_013835 + Q16696:p.Arg257Cys chr19 46291509 46291512 VAR_018356 + Q16696:p.Val323Leu chr19 46293557 46293560 VAR_018338 + Q16696:p.Phe453Tyr chr19 46293680 46293683 VAR_018339 + Q16696:p.Arg494Cys chr19 46189110 46189113 VAR_023563 + P20813:p.Gln21Leu chr19 46189113 46189116 VAR_016927 + P20813:p.Arg22Cys chr19 46189125 46189128 VAR_025206 + P20813:p.Thr26Ser chr19 46189131 46189134 VAR_025207 + P20813:p.Asp28Gly chr19 46189134 46189137 VAR_033819 + P20813:p.Arg29Pro chr19 46189134 46189137 VAR_025208 + P20813:p.Arg29Ser chr19 46189185 46189188 VAR_023564 + P20813:p.Met46Val chr19 46201868 46201871 VAR_023565 + P20813:p.Gly99Glu chr19 46202121 46202124 VAR_016948 + P20813:p.Lys139Glu chr19 46202124 46202127 VAR_023566 + P20813:p.Arg140Gln chr19 46204663 46204666 VAR_016924 + P20813:p.Pro167Ala chr19 46204678 46204681 VAR_016925 + P20813:p.Gln172His chr19 46207092 46207095 VAR_016928 + P20813:p.Ser259Arg chr19 46207101 46207104 VAR_016926 + P20813:p.Lys262Arg chr19 46207780 46207783 VAR_025209 + P20813:p.Asn289Lys chr19 46207831 46207834 VAR_025210 + P20813:p.Thr306Ser chr19 46210059 46210062 VAR_024716 + P20813:p.Ile328Thr chr19 46210436 46210439 VAR_023567 + P20813:p.Ile391Asn chr19 46214554 46214557 VAR_016929 + P20813:p.Arg487Cys chr10 96817018 96817021 VAR_012238 - P10632:p.Arg139Lys chr10 96816973 96816976 VAR_001250 - P10632:p.Glu154Asp chr10 96814609 96814612 VAR_001251 - P10632:p.Asn193Lys chr10 96808168 96808171 VAR_018958 - P10632:p.Ile244Val chr10 96808153 96808156 VAR_001252 - P10632:p.Lys249Arg chr10 96808108 96808111 VAR_011754 - P10632:p.Ile264Met chr10 96808093 96808096 VAR_012239 - P10632:p.Ile269Phe chr10 96788764 96788767 VAR_016947 - P10632:p.Leu390Ser chr10 96788737 96788740 VAR_012240 - P10632:p.Lys399Arg chr10 96788701 96788704 VAR_001253 - P10632:p.His411Leu chr10 96688483 96688486 VAR_018862 + P11712:p.Leu19Ile chr10 96692036 96692039 VAR_008343 + P11712:p.Arg144Cys chr10 96692054 96692057 VAR_018863 + P11712:p.Arg150His chr10 96698962 96698965 VAR_018864 + P11712:p.His251Arg chr10 96699025 96699028 VAR_018865 + P11712:p.Glu272Gly chr10 96730970 96730973 VAR_018866 + P11712:p.Arg335Trp chr10 96731039 96731042 VAR_008344 + P11712:p.Tyr358Cys chr10 96731042 96731045 VAR_008345 + P11712:p.Ile359Leu chr10 96731042 96731045 VAR_013515 + P11712:p.Ile359Thr chr10 96731045 96731048 VAR_013516 + P11712:p.Asp360Glu chr10 96735866 96735869 VAR_024717 + P11712:p.Leu413Pro chr10 96735878 96735881 VAR_008346 + P11712:p.Gly417Asp chr10 96738766 96738769 VAR_018867 + P11712:p.Pro489Ser chr10 96483046 96483049 VAR_001254 + P33260:p.Thr385Met chr10 135230913 135230916 VAR_008360 + P05181:p.Arg76His chr10 135234555 135234558 VAR_008361 + P05181:p.Val179Ile chr10 135240144 135240147 VAR_008362 + P05181:p.Val389Ile chr10 135241235 135241238 VAR_024727 + P05181:p.His457Leu chr1 60104292 60104295 VAR_029159 - P51589:p.Arg49Ser chr1 60093664 60093667 VAR_029160 - P51589:p.Val113Met chr1 60093631 60093634 VAR_022084 - P51589:p.Asn124Ser chr1 60089948 60089951 VAR_014317 - P51589:p.Thr143Ala chr1 60089903 60089906 VAR_014318 - P51589:p.Arg158Cys chr1 60089408 60089411 VAR_014319 - P51589:p.Ile192Asn chr1 60082728 60082731 VAR_014320 - P51589:p.Asp342Asn chr1 60078775 60078778 VAR_014321 - P51589:p.Asn404Tyr chr11 14863967 14863970 VAR_021534 - Q6VVX0:p.Leu99Pro chr19 46404113 46404116 VAR_033820 + Q96SQ9:p.Pro466Leu chr7 798095 798098 VAR_027413 + Q8TAV3:p.Ala181Thr chr7 99086462 99108272 VAR_018051 + Q9HB55:p.89_503del chr7 99102255 99102258 VAR_018052 + Q9HB55:p.Pro340Ala chr7 99026310 99026313 VAR_011597 - P08684:p.Leu15Pro chr7 99020351 99020354 VAR_011598 - P08684:p.Gly56Asp chr7 99014893 99014896 VAR_037547 - P08684:p.Lys96Glu chr7 99012473 99012476 VAR_011599 - P08684:p.Ile118Val chr7 99012437 99012440 VAR_011600 - P08684:p.Arg130Gln chr7 99012076 99012079 VAR_011601 - P08684:p.Arg162Gln chr7 99012052 99012055 VAR_011602 - P08684:p.Val170Ile chr7 99010742 99010745 VAR_011604 - P08684:p.Thr185Ser chr7 99010730 99010733 VAR_014322 - P08684:p.Phe189Ser chr7 99010643 99010646 VAR_011605 - P08684:p.Pro218Arg chr7 99010631 99010634 VAR_008363 - P08684:p.Ser222Pro chr7 99009446 99009449 VAR_037548 - P08684:p.Ser252Ala chr7 99006275 99006278 VAR_014323 - P08684:p.Leu293Pro chr7 99004520 99004523 VAR_037549 - P08684:p.Thr349Asn chr7 99004478 99004481 VAR_011606 - P08684:p.Thr363Met chr7 99004448 99004451 VAR_011607 - P08684:p.Leu373Phe chr7 99004319 99004322 VAR_011608 - P08684:p.Pro416Leu chr7 99003215 99003218 VAR_037550 - P08684:p.Ile431Thr chr7 99003173 99003176 VAR_008364 - P08684:p.Met445Thr chr7 99003107 99003110 VAR_014324 - P08684:p.Pro467Ser chr7 98918469 98918472 VAR_024731 - P20815:p.Arg28Cys chr7 98918463 98918466 VAR_024728 - P20815:p.His30Tyr chr7 98907509 98907512 VAR_024732 - P20815:p.Gln200Arg chr7 98905123 98905126 VAR_024729 - P20815:p.Asp277Glu chr7 98902787 98902790 VAR_024730 - P20815:p.Ala337Thr chr7 98894966 98894969 VAR_029161 - P20815:p.Ile371Val chr7 98894885 98894888 VAR_008365 - P20815:p.Thr398Asn chr7 98892421 98892424 VAR_024733 - P20815:p.Phe446Ser chr7 98890623 98890626 VAR_029162 - P20815:p.Ile488Thr chr7 98951334 98951337 VAR_020124 - P24462:p.Arg409Thr chr19 15869400 15869403 VAR_013116 - P78329:p.Ser7Tyr chr19 15869385 15869388 VAR_013117 - P78329:p.Trp12Gly chr19 15862213 15862216 VAR_013118 - P78329:p.Gly185Val chr19 15861343 15861346 VAR_020125 - P78329:p.Ala269Asp chr19 15851428 15851431 VAR_013119 - P78329:p.Val433Met chr19 15850586 15850589 VAR_013120 - P78329:p.Leu519Met chr19 15621879 15621882 VAR_001258 + Q08477:p.Ala269Asp chr19 15621882 15621885 VAR_020664 + Q08477:p.Val270Ile chr19 15621885 15621888 VAR_020665 + Q08477:p.Ile271Thr chr19 15497321 15497324 VAR_037441 + Q6NT55:p.Phe59Leu chr19 15509455 15509458 VAR_033118 + Q6NT55:p.Ser178Cys chr19 15512315 15512318 VAR_037442 + Q6NT55:p.Arg243His chr19 15516067 15516070 VAR_037443 + Q6NT55:p.Arg372Trp chr19 15520980 15520983 VAR_037444 + Q6NT55:p.His435Tyr chr19 15520983 15520986 VAR_037445 + Q6NT55:p.His436Asp chr19 15523198 15523201 VAR_033119 + Q6NT55:p.Lys505Gln chr4 187488189 187488192 VAR_038606 + Q6ZWL3:p.Leu22Val chr4 187488255 187488258 VAR_023084 + Q6ZWL3:p.Trp44Arg chr4 187488306 187488309 VAR_023085 + Q6ZWL3:p.Gly61Ser chr4 187490822 187490825 VAR_023086 + Q6ZWL3:p.Glu79Asp chr4 187492308 187492311 VAR_023087 + Q6ZWL3:p.Ile111Thr chr4 187492344 187492347 VAR_023088 + Q6ZWL3:p.Met123Val chr4 187493867 187493870 VAR_038607 + Q6ZWL3:p.Ser213Asn chr4 187501505 187501508 VAR_023089 + Q6ZWL3:p.His331Pro chr4 187501535 187501538 VAR_023090 + Q6ZWL3:p.Ser341Pro chr4 187506887 187506890 VAR_023091 + Q6ZWL3:p.Arg508His chr3 42891610 42891613 VAR_010381 - Q9UNU6:p.Arg234His chr10 93989115 93989118 VAR_029776 - Q8NE35:p.Arg324Trp chr16 56032239 56032242 VAR_033747 - Q6FI81:p.Ala34Glu chr16 56032185 56032188 VAR_033748 - Q6FI81:p.Gln52Glu chr3 195544219 195544222 VAR_019722 - P22792:p.Ala305Thr chr3 195543607 195543610 VAR_019720 - P22792:p.Trp509Arg chr3 195543526 195543529 VAR_019721 - P22792:p.Val536Met chr20 33682908 33682911 VAR_024423 - Q99829:p.Gln211Arg chr8 87636307 87636310 VAR_024424 + O75131:p.Thr412Met chr6 36898848 36898851 VAR_020358 - Q9HCH3:p.Asn33Ser chr6 36818058 36818061 VAR_021954 - Q9HCH3:p.Arg582His chr16 88171501 88171504 VAR_021955 + Q9UBL6:p.Phe77Leu chr16 88182619 88182622 VAR_033822 + Q9UBL6:p.Arg397Gln chr16 88190524 88190527 VAR_021956 + Q9UBL6:p.Pro633Leu chr19 41329002 41329005 VAR_021089 + P04632:p.Met224Val chr2 9523319 9523322 VAR_037646 + Q9UKF6:p.Glu142Gly chr2 9550290 9550293 VAR_035873 + Q9UKF6:p.Asp578Asn chr2 211282121 211282124 VAR_014077 + P31327:p.His337Arg chr2 211282142 211282145 VAR_006834 + P31327:p.Thr344Ala chr2 211289610 211289613 VAR_017562 + P31327:p.Val457Gly chr2 211290864 211290867 VAR_006835 + P31327:p.Thr544Met chr2 211302382 211302385 VAR_017563 + P31327:p.Gln810Arg chr2 211302481 211302484 VAR_017564 + P31327:p.Leu843Ser chr2 211302502 211302505 VAR_030675 + P31327:p.Arg850His chr2 211306706 211306709 VAR_017565 + P31327:p.Lys875Glu chr2 211327995 211327998 VAR_030676 + P31327:p.Ser918Pro chr2 211350753 211350756 VAR_017566 + P31327:p.Phe1266Ser chr2 211350804 211350807 VAR_017567 + P31327:p.Met1283Leu chr2 211365155 211365158 VAR_017568 + P31327:p.Gly1376Ser chr2 211366011 211366014 VAR_017569 + P31327:p.Thr1406Asn chr11 68331594 68331597 VAR_020546 - P50416:p.Arg123Cys chr11 68318901 68318904 VAR_020547 - P50416:p.Ala275Thr chr11 68317413 68317416 VAR_020548 - P50416:p.Cys304Trp chr11 68317383 68317386 VAR_020549 - P50416:p.Thr314Ile chr11 68308950 68308953 VAR_020550 - P50416:p.Arg357Trp chr11 68308941 68308944 VAR_020551 - P50416:p.Glu360Gly chr11 68305981 68305984 VAR_020552 - P50416:p.395del chr11 68305924 68305927 VAR_020553 - P50416:p.Ala414Val chr11 68304779 68304782 VAR_020554 - P50416:p.Asp454Gly chr11 68304704 68304707 VAR_020555 - P50416:p.Pro479Leu chr11 68304689 68304692 VAR_020556 - P50416:p.Leu484Pro chr11 68299440 68299443 VAR_020557 - P50416:p.Tyr498Cys chr11 68284283 68284286 VAR_020558 - P50416:p.Gly709Glu chr11 68284280 68284283 VAR_020559 - P50416:p.Gly710Glu chr22 49305979 49305982 VAR_020029 - Q92523:p.Ile66Val chr22 49302917 49302920 VAR_021854 - Q92523:p.Gly320Asp chr22 49301518 49301521 VAR_024188 - Q92523:p.Ser427Cys chr22 49300094 49300097 VAR_011739 - Q92523:p.Glu531Lys chr22 49299499 49299502 VAR_011740 - Q92523:p.Ser664Tyr chr1 53374783 53374786 VAR_001391 + P23786:p.Pro50His chr1 53380118 53380121 VAR_001392 + P23786:p.Ser113Leu chr1 53387817 53387820 VAR_020540 + P23786:p.Arg151Gln chr1 53387886 53387889 VAR_001393 + P23786:p.Glu174Lys chr1 53387994 53387997 VAR_020541 + P23786:p.Tyr210Asp chr1 53388003 53388006 VAR_037976 + P23786:p.Asp213Gly chr1 53388006 53388009 VAR_007966 + P23786:p.Met214Thr chr1 53388045 53388048 VAR_007967 + P23786:p.Pro227Leu chr1 53388252 53388255 VAR_020542 + P23786:p.Arg296Gln chr1 53388420 53388423 VAR_001394 + P23786:p.Phe352Cys chr1 53388468 53388471 VAR_001395 + P23786:p.Val368Ile chr1 53388513 53388516 VAR_001396 + P23786:p.Phe383Tyr chr1 53388708 53388711 VAR_007968 + P23786:p.Phe448Leu chr1 53388801 53388804 VAR_007969 + P23786:p.Tyr479Phe chr1 53388873 53388876 VAR_007970 + P23786:p.Arg503Cys chr1 53389011 53389012 VAR_007971 + P23786:p.Gly549Asp chr1 53390956 53390958 VAR_007971 + P23786:p.Gly549Asp chr1 53390958 53390961 VAR_020543 + P23786:p.Gln550Arg chr1 53390967 53390970 VAR_001397 + P23786:p.Asp553Asn chr1 53391072 53391075 VAR_011741 + P23786:p.Ser588Cys chr1 53391108 53391111 VAR_020544 + P23786:p.Gly600Arg chr1 53391120 53391123 VAR_020545 + P23786:p.Pro604Ser chr1 53391192 53391195 VAR_001398 + P23786:p.Tyr628Ser chr1 53391201 53391204 VAR_001399 + P23786:p.Arg631Cys chr1 53391249 53391252 VAR_001400 + P23786:p.Met647Val chr7 28843447 28843450 VAR_022612 - Q9H3G5:p.Ala435Val chr17 16283285 16283288 VAR_032120 + Q8N1F1:p.Tyr36Cys chr17 16283411 16283414 VAR_032121 + Q8N1F1:p.Ser78Thr chr17 53975163 53975166 VAR_032123 - Q8NEP4:p.Gly461Ser chr17 53974249 53974252 VAR_032124 - Q8NEP4:p.Cys546Gly chr17 10549241 10549244 VAR_032125 + Q3LIE5:p.Leu92Arg chr17 10555165 10555168 VAR_032126 + Q3LIE5:p.Glu337Gly chr17 39581072 39581075 VAR_032393 + Q8N3J3:p.Thr126Pro chr17 76893609 76893612 VAR_032158 - Q8N8I6:p.Val50Leu chr17 76893402 76893405 VAR_032159 - Q8N8I6:p.Arg119Cys chr17 41074924 41074927 VAR_032284 + Q96LR1:p.Tyr132Cys chr17 54643031 54643034 VAR_035137 + Q8ND04:p.Pro280Leu chr17 7270355 7270358 VAR_032145 + Q0P670:p.Ser108Ala chr17 7271159 7271162 VAR_032146 + Q0P670:p.Gln376Arg chr17 68743891 68743894 VAR_031779 + Q9BSJ5:p.Gly226Ser chr17 68744179 68744182 VAR_031780 + Q9BSJ5:p.Lys322Gln chr17 68744281 68744284 VAR_031781 + Q9BSJ5:p.Phe356Leu chr17 68744401 68744404 VAR_031783 + Q9BSJ5:p.Cys396Arg chr17 68744473 68744476 VAR_031784 + Q9BSJ5:p.Gln420His chr17 68750027 68750030 VAR_031785 + Q9BSJ5:p.Ala522Thr chr12 54947944 54947947 VAR_025703 + Q96MF6:p.Pro79His chr2 198150198 198150201 VAR_033823 + Q9H8M1:p.Leu48Phe chr18 13671830 13671833 VAR_035686 - Q96ND0:p.Arg82His chr18 13671656 13671659 VAR_035687 - Q96ND0:p.Val140Glu chr18 31811463 31811466 VAR_030903 + Q32NC0:p.Thr132Ala chr18 50409544 50409547 VAR_033751 + Q8N1N2:p.Val38Ala chr18 50416305 50416308 VAR_033752 + Q8N1N2:p.Thr189Pro chr18 19207715 19207718 VAR_035406 - Q24JQ0:p.Leu131Phe chr1 204245648 204245651 VAR_038678 + Q2VPA4:p.Ile139Val chr1 204260989 204260992 VAR_038679 + Q2VPA4:p.Asn402Asp chr1 204279259 204279262 VAR_038681 + Q2VPA4:p.Leu491Pro chr22 25343817 25343820 VAR_033824 + P53673:p.Val36Met chr22 25346044 25346047 VAR_029528 + P53673:p.Leu69Pro chr22 25346089 25346092 VAR_014903 + P53673:p.Thr84Met chr22 25346119 25346122 VAR_029529 + P53673:p.Phe94Ser chr22 23948392 23948395 VAR_038431 + P43320:p.Ala65Ser chr12 120527643 120527646 VAR_026226 + Q96D31:p.Arg91Trp chr12 120542014 120542017 VAR_038608 + Q96D31:p.Ser218Gly chr5 112465361 112465364 VAR_005141 - P23508:p.Arg267Leu chr5 112431676 112431679 VAR_005142 - P23508:p.Pro486Leu chr5 112427752 112427755 VAR_005143 - P23508:p.Ser490Leu chr5 112427704 112427707 VAR_005144 - P23508:p.Arg506Gln chr5 112407217 112407220 VAR_005145 - P23508:p.Ala698Val chr5 112392585 112392588 VAR_033753 - P23508:p.Ser751Cys chr2 101462149 101462152 VAR_021252 - Q8IUH2:p.Pro96Gln chr3 9954306 9954309 VAR_023764 + Q96HD1:p.Arg107His chr3 9957556 9957559 VAR_023765 + Q96HD1:p.Pro162Ala chr3 9960081 9960084 VAR_023766 + Q96HD1:p.Thr311Ile chr3 9960135 9960138 VAR_023767 + Q96HD1:p.Arg329Cys chr22 48636221 48636224 VAR_028892 + Q6UXH1:p.Asp182Glu chr22 48639939 48639942 VAR_028893 + Q6UXH1:p.Ser295Ala chr22 48640029 48640032 VAR_028894 + Q6UXH1:p.Glu325Gly chr2 208851114 208851117 VAR_021139 - P11844:p.Pro148Leu chr2 208836036 208836039 VAR_021140 - P07316:p.Ser73Ile chr2 208833125 208833128 VAR_029517 - P07316:p.Arg90Thr chr2 208819907 208819910 VAR_021142 - P07315:p.Thr5Pro chr2 208819904 208819907 VAR_038432 - P07315:p.Phe6Leu chr2 208819778 208819781 VAR_021143 - P07315:p.Arg48His chr2 208818450 208818453 VAR_021144 - P07315:p.Arg169Trp chr2 208814548 208814551 VAR_010733 - P07320:p.Arg15Cys chr2 208814521 208814524 VAR_034955 - P07320:p.Pro24Ser chr2 208814521 208814524 VAR_021145 - P07320:p.Pro24Thr chr2 208814482 208814485 VAR_010734 - P07320:p.Arg37Ser chr2 208814416 208814419 VAR_010735 - P07320:p.Arg59His chr2 208812121 208812124 VAR_021146 - P07320:p.Met102Val chr2 208812106 208812109 VAR_034956 - P07320:p.Glu107Ala chr6 49809479 49809482 VAR_011718 - P54108:p.Ser106Pro chr6 49809395 49809398 VAR_011719 - P54108:p.Ala134Ser chr8 76091482 76091485 VAR_027255 + Q9H336:p.Ala286Ser chr16 83436964 83436967 VAR_027256 + Q9H0B8:p.Ser105Gly chr16 83463597 83463600 VAR_027257 + Q9H0B8:p.Thr322Ser chr19 18571543 18571546 VAR_033113 - O75462:p.Trp76Gly chr19 18571528 18571531 VAR_017865 - O75462:p.Arg81His chr19 18566146 18566149 VAR_017866 - O75462:p.Leu374Arg chr17 26135492 26135495 VAR_032539 - Q8IUI8:p.Leu389Pro chr20 19981364 19981367 VAR_024995 - Q9BZJ0:p.Gly35Arg chr20 42399253 42399256 VAR_032339 + Q9H3Y0:p.Phe15Cys chr11 122243469 122243472 VAR_032999 + O95727:p.Lys321Arg chr11 122247236 122247239 VAR_033000 + O95727:p.Ala368Gly chr3 33130981 33130984 VAR_032846 + O75718:p.Glu137Asp chr15 88884355 88884358 VAR_038758 + Q6UUV7:p.Ser72Asn chr15 88973537 88973540 VAR_038759 + Q6UUV7:p.Leu346Ser chr1 194029567 194029570 VAR_022941 + P82279:p.Phe144Val chr1 194029618 194029621 VAR_011641 + P82279:p.Ala161Val chr1 194029621 194029624 VAR_022942 + P82279:p.Val162Met chr1 194029720 194029723 VAR_022943 + P82279:p.Cys195Phe chr1 194029750 194029753 VAR_022944 + P82279:p.Ile205Thr chr1 194045162 194045165 VAR_011642 + P82279:p.Cys250Trp chr1 194048142 194048145 VAR_022945 + P82279:p.Thr289Met chr1 194057775 194057778 VAR_022946 + P82279:p.Cys383Tyr chr1 194121911 194121914 VAR_022947 + P82279:p.Tyr433Cys chr1 194122052 194122055 VAR_022948 + P82279:p.Cys480Gly chr1 194122052 194122055 VAR_022949 + P82279:p.Cys480Arg chr1 194122346 194122349 VAR_022950 + P82279:p.Val578Glu chr1 194122364 194122367 VAR_022951 + P82279:p.Asp584Tyr chr1 194122373 194122376 VAR_022952 + P82279:p.Cys587Tyr chr1 194122649 194122652 VAR_022953 + P82279:p.Gln679Glu chr1 194122655 194122658 VAR_022954 + P82279:p.Cys681Tyr chr1 194122742 194122743 VAR_022955 + P82279:p.Glu710Gln chr1 194128240 194128242 VAR_022955 + P82279:p.Glu710Gln chr1 194128332 194128335 VAR_022956 + P82279:p.Met741Thr chr1 194128344 194128347 VAR_011643 + P82279:p.Thr745Met chr1 194128356 194128359 VAR_022957 + P82279:p.749del chr1 194128401 194128404 VAR_011644 + P82279:p.Arg764Cys chr1 194128416 194128419 VAR_022958 + P82279:p.Arg769His chr1 194128416 194128419 VAR_022959 + P82279:p.Arg769Gln chr1 194128617 194128620 VAR_022960 + P82279:p.Pro836Thr chr1 194128620 194128623 VAR_022961 + P82279:p.Asp837His chr1 194128647 194128650 VAR_022962 + P82279:p.Gly846Arg chr1 194128659 194128662 VAR_022963 + P82279:p.Gly850Ser chr1 194128665 194128668 VAR_022964 + P82279:p.Ile852Thr chr1 194128782 194128785 VAR_022965 + P82279:p.Cys891Gly chr1 194130238 194130241 VAR_022966 + P82279:p.Asn894Ser chr1 194130271 194130274 VAR_022967 + P82279:p.Arg905Gln chr1 194130400 194130401 VAR_011645 + P82279:p.Cys948Tyr chr1 194135492 194135494 VAR_011645 + P82279:p.Cys948Tyr chr1 194135524 194135527 VAR_022968 + P82279:p.Gly959Ser chr1 194135533 194135536 VAR_022969 + P82279:p.962del chr1 194135605 194135608 VAR_022970 + P82279:p.Asn986Ile chr1 194135614 194135617 VAR_022971 + P82279:p.Ile989Thr chr1 194135722 194135725 VAR_022972 + P82279:p.Ser1025Ile chr1 194135770 194135773 VAR_011646 + P82279:p.Met1041Thr chr1 194135860 194135863 VAR_011647 + P82279:p.Leu1071Pro chr1 194135947 194135950 VAR_011648 + P82279:p.Ile1100Arg chr1 194135947 194135950 VAR_022973 + P82279:p.Ile1100Thr chr1 194135956 194135959 VAR_022974 + P82279:p.Gly1103Arg chr1 194135968 194135971 VAR_022975 + P82279:p.Leu1107Pro chr1 194135968 194135971 VAR_022976 + P82279:p.Leu1107Arg chr1 194136190 194136193 VAR_011649 + P82279:p.Cys1181Arg chr1 194136262 194136265 VAR_022977 + P82279:p.Gly1205Arg chr1 194136301 194136304 VAR_022978 + P82279:p.Cys1218Phe chr1 194143022 194143025 VAR_022979 + P82279:p.Asn1317His chr1 194143034 194143037 VAR_022980 + P82279:p.Cys1321Ser chr1 194143064 194143067 VAR_022981 + P82279:p.Arg1331His chr1 194178504 194178507 VAR_022982 + P82279:p.Ala1354Thr chr1 194178591 194178594 VAR_022983 + P82279:p.Arg1383His chr9 123204738 123204741 VAR_022984 + Q5IJ48:p.Pro46Leu chr9 123204891 123204894 VAR_022985 + Q5IJ48:p.Val97Leu chr9 123204948 123204951 VAR_022986 + Q5IJ48:p.Pro116Leu chr9 123207763 123207766 VAR_022987 + Q5IJ48:p.Met145Thr chr9 123207805 123207808 VAR_022988 + Q5IJ48:p.Gly159Ala chr9 123207889 123207892 VAR_022989 + Q5IJ48:p.Glu187Asp chr9 123209515 123209518 VAR_022990 + Q5IJ48:p.Ala351Thr chr9 123212485 123212488 VAR_022991 + Q5IJ48:p.Arg534Gln chr9 123212713 123212716 VAR_022992 + Q5IJ48:p.Arg610Trp chr9 123213210 123213213 VAR_022993 + Q5IJ48:p.His746Gln chr9 123215691 123215694 VAR_022994 + Q5IJ48:p.Thr1110Met chr19 53031331 53031334 VAR_007946 + O43186:p.Arg41Gln chr19 53031331 53031334 VAR_003750 + O43186:p.Arg41Trp chr19 53031448 53031451 VAR_003751 + O43186:p.Glu80Ala chr19 53034403 53034406 VAR_008714 + O43186:p.Arg90Trp chr19 53034499 53034502 VAR_008282 + O43186:p.Gly122Asp chr19 53034556 53034559 VAR_036438 + O43186:p.Ser141Phe chr19 53034571 53034583 VAR_007947 + O43186:p.146_149del chr19 53034607 53034610 VAR_007948 + O43186:p.Ala158Thr chr19 53034859 53034862 VAR_007949 + O43186:p.Val242Met chr21 43462422 43462425 VAR_038375 + P02489:p.Arg49Cys chr21 43465249 43465252 VAR_036564 + P02489:p.Asp105His chr21 43465282 43465285 VAR_003819 + P02489:p.Arg116Cys chr11 111287535 111287538 VAR_014607 - P02511:p.Ser41Tyr chr11 111287505 111287508 VAR_014608 - P02511:p.Pro51Leu chr11 111284865 111284868 VAR_007899 - P02511:p.Arg120Gly chr19 708411 708414 VAR_033754 + Q8IVT2:p.Ser156Gly chr19 708639 708642 VAR_033755 + Q8IVT2:p.Lys232Arg chr19 714506 714509 VAR_033756 + Q8IVT2:p.Glu653Gly chr19 3499228 3499231 VAR_030309 - Q6NUT3:p.Tyr182His chr19 3498953 3498956 VAR_030310 - Q6NUT3:p.Arg243His chr19 4860626 4860629 VAR_033169 - Q8N1I2:p.Val47Leu chr19 2047947 2047950 VAR_030683 + Q1ZYL8:p.Ala2Thr chr19 11347512 11347515 VAR_033151 + Q6NVH7:p.Asp171Gly chr19 55993496 55993499 VAR_029852 - Q6RUI8:p.Val7Ile chr19 55993265 55993268 VAR_029853 - Q6RUI8:p.Arg84Cys chr19 55993205 55993208 VAR_029854 - Q6RUI8:p.Gly104Glu chr2 95469277 95469280 VAR_035463 + Q9Y2W7:p.Ala170Ser chr2 95469304 95469307 VAR_035464 + Q9Y2W7:p.Asp179Tyr chr5 149440733 149440736 VAR_042038 - P07333:p.Val32Gly chr5 149430323 149430326 VAR_042039 - P07333:p.His362Arg chr5 149430017 149430020 VAR_042040 - P07333:p.Gly413Ser chr5 149427988 149427991 VAR_042041 - P07333:p.Leu536Val chr5 149419508 149419511 VAR_042042 - P07333:p.Pro693His chr5 149414080 149414083 VAR_042043 - P07333:p.Glu920Asp chr5 149414077 149414080 VAR_042044 - P07333:p.Arg921Gln chr5 149413836 149413839 VAR_011953 - P07333:p.Tyr969Cys chr1 110178506 110178509 VAR_020454 + P09603:p.Leu408Pro chr1 110178596 110178599 VAR_029320 + P09603:p.Gly438Arg chr1 110178770 110178773 VAR_020455 + P09603:p.Ser496Phe chr1 110179460 110179463 VAR_022146 + P09603:p.Ala531Val chr5 131439351 131439354 VAR_013089 + P04141:p.Thr115Ile chr5 131439357 131439360 VAR_001975 + P04141:p.Ile117Thr chr1 36607360 36607363 VAR_014325 - Q99062:p.Met231Thr chr1 36606968 36606971 VAR_014326 - Q99062:p.Asp320Asn chr1 36606792 36606795 VAR_014327 - Q99062:p.Gln346Arg chr1 36606196 36606199 VAR_014328 - Q99062:p.Glu405Lys chr1 36604499 36604502 VAR_014329 - Q99062:p.Arg440Gln chr1 36603895 36603898 VAR_014330 - Q99062:p.Asp510His chr1 36602805 36602808 VAR_014331 - Q99062:p.Tyr562His chr1 36602630 36602633 VAR_014332 - Q99062:p.Arg583Cys chr17 35426582 35426585 VAR_013073 + P09919:p.Leu157Met chr17 35426633 35426636 VAR_013074 + P09919:p.Ala174Thr chr17 59327594 59327597 VAR_007166 - P01243:p.Pro3Ala chr17 59326705 59326711 VAR_007167 - P01243:p.Ile104_Ser105delinsLeu chr15 72878222 72878225 VAR_041678 + P41240:p.Pro45Leu chr15 72880960 72880963 VAR_025203 + P41240:p.Gly287Asp chr15 72881745 72881748 VAR_025204 + P41240:p.Arg398Gln chr15 72881877 72881880 VAR_025205 + P41240:p.His442Arg chr1 34070544 34070547 VAR_028081 - Q7Z408:p.Leu167Pro chr1 33907374 33907377 VAR_024330 - Q7Z408:p.His538Arg chr1 33740616 33740619 VAR_028082 - Q7Z408:p.Arg2096Lys chr1 33707304 33707307 VAR_028084 - Q7Z408:p.Met2554Val chr1 33704220 33704223 VAR_028085 - Q7Z408:p.Leu2661Arg chr1 33654590 33654593 VAR_028086 - Q7Z408:p.Ser3406Phe chr5 82843826 82843829 VAR_021958 + P13611:p.Ser300Leu chr5 82851162 82851165 VAR_020214 + P13611:p.Gly428Asp chr5 82869123 82869126 VAR_021959 + P13611:p.Lys1516Arg chr5 82870053 82870056 VAR_031632 + P13611:p.Arg1826His chr5 82871478 82871481 VAR_020215 + P13611:p.Phe2301Tyr chr5 82871520 82871523 VAR_020216 + P13611:p.Val2315Leu chr5 82873386 82873389 VAR_021960 + P13611:p.Asp2937Tyr chr5 82873608 82873611 VAR_031633 + P13611:p.Asn3011Lys chr8 68236689 68236692 VAR_033045 + Q1MSJ5:p.Arg872His chr20 18087866 18087869 VAR_028034 + Q9H8E8:p.Pro214Leu chr20 18091241 18091244 VAR_020466 + Q9H8E8:p.Arg442Thr chr20 18110479 18110482 VAR_033839 + Q9H8E8:p.Pro600Arg chr2 166361431 166361434 VAR_035993 + Q8WYN3:p.Pro474Leu chr11 19170559 19170562 VAR_015401 - P50461:p.Trp4Arg chr20 23369078 23369081 VAR_033841 + Q9H114:p.Thr59Ala chr20 23369087 23369090 VAR_033842 + Q9H114:p.Tyr62Phe chr20 23369099 23369102 VAR_033843 + Q9H114:p.Arg66Lys chr20 23372612 23372615 VAR_024425 + Q9H114:p.Trp88Arg chr20 23372636 23372639 VAR_024426 + Q9H114:p.Thr96Met chr20 23424545 23424548 VAR_014527 + O60676:p.Ala142Pro chr20 23494637 23494640 VAR_022079 - Q9H4G1:p.His109Pro chr20 23534357 23534360 VAR_038045 - Q5W186:p.Leu48Phe chr3 141606245 141606248 VAR_036112 + Q9H4D0:p.Ser193Ile chr3 141764430 141764433 VAR_036113 + Q9H4D0:p.Arg765Gln chr12 7201443 7201446 VAR_036114 + Q9BQT9:p.His874Tyr chr20 13745826 13745829 VAR_035376 + Q5TEU4:p.Leu337Phe chr20 19999573 19999576 VAR_027981 + Q8NHU2:p.Pro74Arg chr20 20027358 20027361 VAR_027982 + Q8NHU2:p.His254Arg chr20 20092771 20092774 VAR_027983 + Q8NHU2:p.Val369Ile chr20 20092777 20092780 VAR_027984 + Q8NHU2:p.Pro371Leu chr20 20119985 20119988 VAR_027985 + Q8NHU2:p.Asp505Glu chr20 20156937 20156940 VAR_027986 + Q8NHU2:p.Pro660Leu chr20 20156970 20156973 VAR_027987 + Q8NHU2:p.Val671Ile chr20 54492649 54492652 VAR_028134 + Q9BY42:p.Thr159Ala chr20 1110163 1110166 VAR_033757 - Q9NUR3:p.Leu33Met chr20 17898544 17898547 VAR_033758 + Q9BQP7:p.Ser15Cys chr20 5981031 5981034 VAR_025548 - Q8WUT4:p.Pro138Leu chr20 18742753 18742756 VAR_024332 + Q9UJQ7:p.Pro99Ser chr20 56162012 56162015 VAR_033759 + Q9H1P6:p.Arg26His chr20 56169164 56169167 VAR_033760 + Q9H1P6:p.Ile99Val chr20 10551748 10551751 VAR_035277 + Q5VYV7:p.Arg317Gln chr20 9443532 9443535 VAR_014401 + Q9UJQ1:p.Asp12Gly chr20 9444649 9444652 VAR_014402 + Q9UJQ1:p.Ile81Val chr20 9444715 9444718 VAR_014403 + Q9UJQ1:p.Gln103Glu chr20 9445004 9445007 VAR_014404 + Q9UJQ1:p.Ser158Gly chr20 54533466 54533469 VAR_029621 + Q5JX71:p.Val66Ala chr20 54534299 54534302 VAR_033761 + Q5JX71:p.Leu95Phe chr20 54534365 54534368 VAR_029622 + Q5JX71:p.Met117Lys chr20 54534419 54534422 VAR_029623 + Q5JX71:p.Arg135Gly chr20 54534452 54534455 VAR_029624 + Q5JX71:p.Arg146Lys chr20 54544769 54544772 VAR_033762 + Q5JX69:p.Glu129Ala chr20 54374546 54374549 VAR_033763 + Q96KR6:p.Pro126Ser chr20 42259762 42259765 VAR_024333 - Q9NX31:p.Val74Gly chr20 3119334 3119337 VAR_016923 - Q96HY6:p.Ala303Thr chr20 43948964 43948967 VAR_015146 - Q9BR10:p.Pro94Leu chr20 60572710 60572713 VAR_019655 + Q9H1L0:p.Val27Ala chr20 33579693 33579696 VAR_024334 - Q96LM9:p.Lys141Glu chr20 57952675 57952678 VAR_035691 + Q9NTX9:p.Ser95Gly chr20 5701577 5701580 VAR_032144 + Q8IYI0:p.Ala23Val chr10 126681968 126681971 VAR_033844 - P56545:p.Glu47Asp chr16 66208210 66208213 VAR_013141 + P49711:p.Arg339Trp chr16 66208225 66208228 VAR_013142 + P49711:p.Lys344Glu chr16 66208228 66208231 VAR_013143 + P49711:p.His345Arg chr16 66212979 66212982 VAR_013144 + P49711:p.Arg448Gln chr18 75574113 75574116 VAR_018264 + Q9Y5B0:p.Thr340Met chr18 75578849 75578852 VAR_032763 + Q9Y5B0:p.Leu755Ser chr3 37981158 37981161 VAR_019683 + O15194:p.Ser121Pro chr3 37984329 37984332 VAR_019684 + O15194:p.Asn127Ser chr3 37984344 37984347 VAR_019685 + O15194:p.Val132Gly chr16 30821028 30821031 VAR_014938 + Q16619:p.Ala92Thr chr6 132313642 132313645 VAR_027925 - P29279:p.His83Asp chr6 31954718 31954721 VAR_023406 - Q53GD3:p.Arg6Leu chr6 31945389 31945392 VAR_036210 - Q53GD3:p.Ala347Thr chr2 204558219 204558222 VAR_013577 + P16410:p.Thr17Ala chr5 138175836 138175839 VAR_022303 + P35221:p.Ala179Val chr5 138188183 138188186 VAR_022304 + P35221:p.Pro219Ser chr3 41241073 41241076 VAR_017612 + P35222:p.Ser23Arg chr3 41241079 41241106 VAR_017613 + P35222:p.25_33del chr3 41241100 41241103 VAR_017614 + P35222:p.Asp32Ala chr3 41241100 41241103 VAR_017615 + P35222:p.Asp32Gly chr3 41241100 41241103 VAR_017616 + P35222:p.Asp32Tyr chr3 41241103 41241106 VAR_017617 + P35222:p.Ser33Phe chr3 41241103 41241106 VAR_017618 + P35222:p.Ser33Leu chr3 41241103 41241106 VAR_017619 + P35222:p.Ser33Tyr chr3 41241106 41241109 VAR_017620 + P35222:p.Gly34Glu chr3 41241106 41241109 VAR_017621 + P35222:p.Gly34Arg chr3 41241106 41241109 VAR_017622 + P35222:p.Gly34Val chr3 41241109 41241112 VAR_017623 + P35222:p.Ile35Ser chr3 41241115 41241121 VAR_017628 + P35222:p.Ser37_Gly38delinsTrp chr3 41241115 41241118 VAR_017624 + P35222:p.Ser37Ala chr3 41241115 41241118 VAR_017625 + P35222:p.Ser37Cys chr3 41241115 41241118 VAR_017626 + P35222:p.Ser37Phe chr3 41241115 41241118 VAR_017627 + P35222:p.Ser37Tyr chr3 41241127 41241130 VAR_017629 + P35222:p.Thr41Ala chr3 41241127 41241130 VAR_017630 + P35222:p.Thr41Ile chr3 41241139 41241142 VAR_017631 + P35222:p.Ser45Phe chr3 41241139 41241142 VAR_017632 + P35222:p.Ser45Pro chr3 41253189 41253192 VAR_018954 + P35222:p.Met688Val chr11 57320594 57320597 VAR_038255 + O60716:p.Ser171Phe chr11 57320732 57320735 VAR_020929 + O60716:p.Tyr217Cys chr11 57326213 57326216 VAR_020930 + O60716:p.Arg464Cys chr11 57339482 57339485 VAR_020931 + O60716:p.Arg915Lys chr5 11026765 11026768 VAR_036162 - Q9UQB3:p.Pro1159Ser chr9 108840959 108840962 VAR_020924 - Q9UBT7:p.Asn91Thr chr9 108832590 108832593 VAR_020925 - Q9UBT7:p.Glu203Lys chr9 108814584 108814587 VAR_033845 - Q9UBT7:p.Thr424Ser chr9 108807222 108807225 VAR_020926 - Q9UBT7:p.Glu527Gln chr9 108794099 108794102 VAR_020927 - Q9UBT7:p.Ile593Asn chr9 108784660 108784663 VAR_020928 - Q9UBT7:p.Met716Arg chr1 15512163 15512166 VAR_043516 + Q99895:p.Asp35His chr1 15512163 15512166 VAR_043517 + Q99895:p.Asp35Asn chr1 15512169 15512172 VAR_043518 + Q99895:p.Arg37Gln chr1 15512303 15512306 VAR_043519 + Q99895:p.Gln48Arg chr1 15512378 15512381 VAR_043520 + Q99895:p.Ala73Thr chr1 15514255 15514258 VAR_010928 + Q99895:p.Arg80Trp chr1 15516426 15516429 VAR_043521 + Q99895:p.Lys172Glu chr1 15517406 15517409 VAR_043522 + Q99895:p.Gly217Arg chr1 15517406 15517409 VAR_043523 + Q99895:p.Gly217Ser chr1 15517409 15517412 VAR_043524 + Q99895:p.Gly218Ser chr1 15517415 15517418 VAR_043525 + Q99895:p.Leu220Arg chr1 15517430 15517433 VAR_043526 + Q99895:p.Glu225Ala chr1 15517460 15517463 VAR_043527 + Q99895:p.Val235Ile chr1 15517502 15517505 VAR_043528 + Q99895:p.Pro249Leu chr1 15517517 15517520 VAR_043529 + Q99895:p.Arg254Trp chr1 15517535 15517538 VAR_043530 + Q99895:p.Asp260Asn chr16 66521702 66521705 VAR_021939 - P40313:p.His173Arg chr15 41727527 41727530 VAR_033307 - Q96P56:p.Glu8Gly chr15 41726931 41726934 VAR_033308 - Q96P56:p.Val57Ile chr5 134371662 134371665 VAR_033309 + Q86XQ3:p.Asn204Lys chr7 116969322 116969325 VAR_025535 - Q8WZ74:p.Leu1213Val chr5 127021160 127021163 VAR_031763 + Q4LDR2:p.Glu17Val chr21 44576248 44576251 VAR_016155 - O43822:p.Thr150Ile chr21 39046208 39046211 VAR_026884 - Q6XXX2:p.Ser21Thr chr21 39046154 39046157 VAR_026885 - Q6XXX2:p.Asn39Lys chr21 39046115 39046118 VAR_026886 - Q6XXX2:p.Ala52Ser chr21 39045959 39045962 VAR_026887 - Q6XXX2:p.Met104Arg chr21 45221086 45221089 VAR_021949 + Q9NSI2:p.Val212Leu chr21 45665824 45665827 VAR_021950 - Q8N8W7:p.Ala97Val chr21 42397007 42397010 VAR_017941 - Q8N2C9:p.Val98Phe chr10 17208780 17208783 VAR_025284 - O60494:p.Phe124Ile chr10 17187524 17187527 VAR_025286 - O60494:p.Pro389Thr chr10 17153919 17153922 VAR_035829 - O60494:p.His786Gln chr10 17147555 17147558 VAR_025287 - O60494:p.Tyr1032His chr10 17123163 17123166 VAR_025288 - O60494:p.Pro1297Leu chr10 17064548 17064551 VAR_025289 - O60494:p.Asn1545Tyr chr10 17029274 17029277 VAR_025291 - O60494:p.Val1769Ile chr10 17007591 17007594 VAR_025292 - O60494:p.Leu2153Phe chr10 17002032 17002035 VAR_035830 - O60494:p.Ala2252Val chr10 16988394 16988397 VAR_025294 - O60494:p.Pro2575Arg chr10 16983453 16983456 VAR_025295 - O60494:p.Gly2691Arg chr10 16983375 16983378 VAR_025296 - O60494:p.Ser2717Trp chr10 16972493 16972496 VAR_025297 - O60494:p.Leu2879Ile chr10 16972388 16972391 VAR_035831 - O60494:p.Ala2914Val chr10 16959055 16959058 VAR_025298 - O60494:p.Ile2984Val chr10 16959001 16959004 VAR_025299 - O60494:p.Glu3002Gly chr10 16933335 16933338 VAR_035832 - O60494:p.Ile3189Val chr10 16917114 16917117 VAR_025300 - O60494:p.Thr3422Ile chr10 16910917 16910920 VAR_025301 - O60494:p.Asn3552Lys chr17 53305191 53305194 VAR_021951 - Q9NWM3:p.Pro205Ser chr17 53300595 53300598 VAR_033765 - Q9NWM3:p.Arg316Gln chr10 35383463 35383466 VAR_011374 - Q13617:p.Asn109Ser chr2 225275192 225275195 VAR_017194 - Q13618:p.Asp13His chr2 225187980 225187983 VAR_017195 - Q13618:p.Val567Ile chrX 119476120 119476123 VAR_032272 - Q13620:p.Leu85Pro chrX 119473747 119473750 VAR_032273 - Q13620:p.Thr195Ile chrX 119455083 119455086 VAR_032274 - Q13620:p.Arg554Cys chrX 119450302 119450305 VAR_032275 - Q13620:p.Val727Ala chr6 43122275 43122278 VAR_026121 - Q14999:p.Gln813Arg chr6 43120597 43120600 VAR_026122 - Q14999:p.Leu1014Arg chr6 43116698 43116701 VAR_026123 - Q14999:p.Gln1246Gly chr6 43114605 43114608 VAR_026124 - Q14999:p.His1464Pro chr22 18415620 18415623 VAR_028742 + Q6ICL3:p.Asp125Asn chr22 18423752 18423755 VAR_028743 + Q6ICL3:p.Glu200Lys chr22 18426640 18426643 VAR_028744 + Q6ICL3:p.Asp245Glu chr22 31115716 31115719 VAR_028853 - Q9Y3I0:p.Leu343Phe chr22 18213990 18213993 VAR_034590 - Q7L3V2:p.Arg116His chr22 18213969 18213972 VAR_034591 - Q7L3V2:p.Asp123Tyr chr22 27781250 27781253 VAR_028808 - O95567:p.Cys46Arg chr22 27779526 27779529 VAR_028809 - O95567:p.Thr210Arg chr22 40800407 40800410 VAR_034628 + Q9H4I9:p.Arg46Gly chrX 144614846 144614849 VAR_033766 + O96002:p.Ser36Ala chrX 17990371 17990374 VAR_022885 - Q8NDZ0:p.Phe154Leu chrX 100103387 100103390 VAR_037355 - Q96GJ1:p.Ser12Arg chrX 23688145 23688148 VAR_029857 + Q96LI9:p.Arg24Cys chrX 23712972 23712975 VAR_029858 + Q96LI9:p.Arg187His chr3 39282833 39282836 VAR_010041 - P49238:p.Thr57Ala chr3 39282638 39282641 VAR_010042 - P49238:p.Val122Ile chr3 39282563 39282566 VAR_022062 - P49238:p.Val147Ile chr3 39282257 39282260 VAR_010043 - P49238:p.Val249Ile chr3 39282164 39282167 VAR_010044 - P49238:p.Thr280Met chr6 76006809 76006812 VAR_012319 - P14406:p.Glu40Asp chr6 121809740 121809743 VAR_015747 + P17302:p.Tyr17Ser chr6 121809743 121809746 VAR_015748 + P17302:p.Ser18Pro chr6 121809752 121809755 VAR_015749 + P17302:p.Gly21Arg chr6 121809755 121809758 VAR_015750 + P17302:p.Gly22Glu chr6 121809758 121809761 VAR_015751 + P17302:p.Lys23Thr chr6 121809770 121809773 VAR_038356 + P17302:p.Ser27Pro chr6 121809782 121809785 VAR_038357 + P17302:p.Ile31Met chr6 121809809 121809812 VAR_015752 + P17302:p.Ala40Val chr6 121809836 121809839 VAR_015753 + P17302:p.Gln49Lys chr6 121809845 121809848 VAR_015754 + P17302:p.Phe52Phe chr6 121809896 121809899 VAR_038358 + P17302:p.Ser69Tyr chr6 121809917 121809920 VAR_015755 + P17302:p.Arg76Ser chr6 121809959 121809962 VAR_015756 + P17302:p.Leu90Val chr6 121809983 121809986 VAR_015757 + P17302:p.Tyr98Cys chr6 121809995 121809998 VAR_015758 + P17302:p.Lys102Asn chr6 121810028 121810031 VAR_038359 + P17302:p.Leu113Pro chr6 121810061 121810064 VAR_014094 + P17302:p.Asp124Glu chr6 121810079 121810082 VAR_015759 + P17302:p.Ile130Thr chr6 121810091 121810094 VAR_015760 + P17302:p.Lys134Glu chr6 121810091 121810094 VAR_038360 + P17302:p.Lys134Asn chr6 121810103 121810106 VAR_015761 + P17302:p.Gly138Arg chr6 121810118 121810121 VAR_038361 + P17302:p.Gly143Ser chr6 121810133 121810136 VAR_014095 + P17302:p.Arg148Gln chr6 121810193 121810196 VAR_014096 + P17302:p.Ala168Thr chr6 121810244 121810247 VAR_014097 + P17302:p.Tyr185His chr6 121810295 121810298 VAR_014098 + P17302:p.Arg202Cys chr6 121810295 121810298 VAR_015762 + P17302:p.Arg202His chr6 121810301 121810304 VAR_014099 + P17302:p.Thr204Met chr6 121810337 121810340 VAR_015763 + P17302:p.Val216Leu chr6 121810406 121810409 VAR_014100 + P17302:p.Arg239Trp chr6 121810448 121810451 VAR_015764 + P17302:p.Ala253Val chr6 121810538 121810541 VAR_014101 + P17302:p.Pro283Leu chr6 121810559 121810562 VAR_014102 + P17302:p.Thr290Asn chr6 121810775 121810778 VAR_032924 + P17302:p.Arg362Gln chr6 121810817 121810820 VAR_032925 + P17302:p.Arg376Gln chr1 34929117 34929120 VAR_009159 + P35212:p.Pro71Ser chr1 34929288 34929291 VAR_009160 + P35212:p.Ala128Val chr1 34929294 34929297 VAR_009161 + P35212:p.Val130Ile chr1 34929861 34929864 VAR_009162 + P35212:p.Pro319Ser chr1 144455898 144455901 VAR_035013 - P36382:p.Pro88Ser chr1 144455874 144455877 VAR_035014 - P36382:p.Ala96Ser chr1 144604964 144604967 VAR_038797 + P48165:p.Arg23Thr chr1 144605027 144605030 VAR_038798 + P48165:p.Val44Glu chr1 144605039 144605042 VAR_038799 + P48165:p.Glu48Lys chr1 144605087 144605090 VAR_037642 + P48165:p.Val64Gly chr1 144605159 144605162 VAR_002005 + P48165:p.Pro88Ser chr1 144605489 144605492 VAR_038800 + P48165:p.Arg198Gln chr1 144605636 144605639 VAR_038801 + P48165:p.Ile247Met chr1 39009372 39009375 VAR_019392 - P57773:p.Val497Ile chrX 70226584 70226587 VAR_002006 + P08034:p.Trp3Arg chrX 70226584 70226587 VAR_002007 + P08034:p.Trp3Ser chrX 70226596 70226602 VAR_029894 + P08034:p.Tyr7_Thr8delinsSer chrX 70226596 70226599 VAR_002008 + P08034:p.Tyr7Cys chrX 70226599 70226602 VAR_029895 + P08034:p.Thr8Ile chrX 70226599 70226602 VAR_002009 + P08034:p.Thr8Pro chrX 70226602 70226605 VAR_029896 + P08034:p.Leu9Trp chrX 70226608 70226611 VAR_002010 + P08034:p.Ser11Gly chrX 70226611 70226614 VAR_002011 + P08034:p.Gly12Ser chrX 70226614 70226617 VAR_002012 + P08034:p.Val13Leu chrX 70226614 70226617 VAR_002013 + P08034:p.Val13Met chrX 70226617 70226620 VAR_002014 + P08034:p.Asn14Lys chrX 70226620 70226623 VAR_002015 + P08034:p.Arg15Gln chrX 70226620 70226623 VAR_002016 + P08034:p.Arg15Trp chrX 70226623 70226626 VAR_002017 + P08034:p.His16Pro chrX 70226635 70226641 VAR_029897 + P08034:p.Ile20_Gly21delinsAsnSer chrX 70226635 70226638 VAR_002018 + P08034:p.Ile20Ser chrX 70226638 70226641 VAR_002019 + P08034:p.Gly21Asp chrX 70226641 70226644 VAR_002020 + P08034:p.Arg22Gly chrX 70226641 70226644 VAR_002021 + P08034:p.Arg22Pro chrX 70226641 70226644 VAR_002022 + P08034:p.Arg22Gln chrX 70226644 70226647 VAR_002023 + P08034:p.Val23Ala chrX 70226647 70226650 VAR_029898 + P08034:p.Trp24Cys chrX 70226650 70226653 VAR_002024 + P08034:p.Leu25Phe chrX 70226650 70226653 VAR_029899 + P08034:p.Leu25Pro chrX 70226653 70226656 VAR_002025 + P08034:p.Ser26Leu chrX 70226653 70226656 VAR_029900 + P08034:p.Ser26Trp chrX 70226659 70226662 VAR_002027 + P08034:p.Ile28Ile chrX 70226659 70226662 VAR_029901 + P08034:p.Ile28Asn chrX 70226659 70226662 VAR_002026 + P08034:p.Ile28Thr chrX 70226662 70226665 VAR_002028 + P08034:p.Phe29Leu chrX 70226665 70226668 VAR_002029 + P08034:p.Ile30Asn chrX 70226665 70226668 VAR_029902 + P08034:p.Ile30Thr chrX 70226677 70226680 VAR_029903 + P08034:p.Met34Ile chrX 70226677 70226680 VAR_029904 + P08034:p.Met34Lys chrX 70226677 70226680 VAR_002030 + P08034:p.Met34Thr chrX 70226677 70226680 VAR_002031 + P08034:p.Met34Val chrX 70226680 70226683 VAR_002032 + P08034:p.Val35Met chrX 70226686 70226689 VAR_029905 + P08034:p.Val37Met chrX 70226689 70226692 VAR_002033 + P08034:p.Val38Met chrX 70226692 70226695 VAR_002034 + P08034:p.Ala39Pro chrX 70226692 70226695 VAR_002035 + P08034:p.Ala39Val chrX 70226695 70226698 VAR_029906 + P08034:p.Ala40Thr chrX 70226695 70226698 VAR_002036 + P08034:p.Ala40Val chrX 70226698 70226701 VAR_002037 + P08034:p.Glu41Lys chrX 70226704 70226707 VAR_002038 + P08034:p.Val43Met chrX 70226707 70226710 VAR_002039 + P08034:p.Trp44Leu chrX 70226722 70226725 VAR_029907 + P08034:p.Ser49Pro chrX 70226722 70226725 VAR_002040 + P08034:p.Ser49Tyr chrX 70226725 70226728 VAR_002041 + P08034:p.Ser50Pro chrX 70226734 70226737 VAR_002042 + P08034:p.Cys53Ser chrX 70226740 70226743 VAR_029908 + P08034:p.Thr55Ala chrX 70226740 70226743 VAR_008137 + P08034:p.Thr55Ile chrX 70226740 70226743 VAR_029909 + P08034:p.Thr55Arg chrX 70226743 70226746 VAR_002043 + P08034:p.Leu56Phe chrX 70226746 70226749 VAR_029910 + P08034:p.Gln57His chrX 70226749 70226752 VAR_002044 + P08034:p.Pro58Arg chrX 70226752 70226755 VAR_002045 + P08034:p.Gly59Cys chrX 70226752 70226755 VAR_029911 + P08034:p.Gly59Arg chrX 70226755 70226758 VAR_002046 + P08034:p.Cys60Phe chrX 70226764 70226767 VAR_002047 + P08034:p.Val63Ile chrX 70226767 70226770 VAR_029912 + P08034:p.Cys64Phe chrX 70226767 70226770 VAR_002048 + P08034:p.Cys64Ser chrX 70226770 70226773 VAR_002049 + P08034:p.Tyr65Cys chrX 70226770 70226773 VAR_012313 + P08034:p.Tyr65His chrX 70226773 70226776 VAR_002050 + P08034:p.66del chrX 70226782 70226785 VAR_029913 + P08034:p.Phe69Leu chrX 70226785 70226788 VAR_029914 + P08034:p.Pro70Ala chrX 70226800 70226803 VAR_002051 + P08034:p.Arg75Pro chrX 70226800 70226803 VAR_002052 + P08034:p.Arg75Gln chrX 70226800 70226803 VAR_002053 + P08034:p.Arg75Trp chrX 70226806 70226809 VAR_002054 + P08034:p.Trp77Ser chrX 70226815 70226818 VAR_002055 + P08034:p.Gln80Arg chrX 70226818 70226821 VAR_002056 + P08034:p.Leu81Phe chrX 70226824 70226827 VAR_002057 + P08034:p.Leu83Pro chrX 70226827 70226830 VAR_002058 + P08034:p.Val84Ile chrX 70226830 70226833 VAR_002059 + P08034:p.Ser85Cys chrX 70226830 70226833 VAR_002060 + P08034:p.Ser85Phe chrX 70226833 70226836 VAR_002061 + P08034:p.Thr86Ala chrX 70226833 70226836 VAR_002062 + P08034:p.Thr86Asn chrX 70226833 70226836 VAR_002063 + P08034:p.Thr86Ser chrX 70226836 70226839 VAR_002064 + P08034:p.Pro87Ala chrX 70226836 70226839 VAR_002065 + P08034:p.Pro87Leu chrX 70226836 70226839 VAR_002066 + P08034:p.Pro87Ser chrX 70226842 70226845 VAR_002067 + P08034:p.Leu89Pro chrX 70226845 70226848 VAR_002068 + P08034:p.Leu90His chrX 70226845 70226848 VAR_029915 + P08034:p.Leu90Val chrX 70226848 70226851 VAR_029916 + P08034:p.Val91Met chrX 70226854 70226857 VAR_002069 + P08034:p.Met93Val chrX 70226857 70226860 VAR_029917 + P08034:p.His94Asp chrX 70226857 70226860 VAR_002070 + P08034:p.His94Gln chrX 70226857 70226860 VAR_002071 + P08034:p.His94Tyr chrX 70226860 70226863 VAR_002072 + P08034:p.Val95Met chrX 70226875 70226878 VAR_002073 + P08034:p.His100Tyr chrX 70226881 70226884 VAR_002074 + P08034:p.Glu102Gly chrX 70226881 70226884 VAR_029918 + P08034:p.102del chrX 70226884 70226887 VAR_002075 + P08034:p.Lys103Glu chrX 70226887 70226890 VAR_029919 + P08034:p.Lys104Thr chrX 70226896 70226899 VAR_002076 + P08034:p.Arg107Trp chrX 70226899 70226902 VAR_029920 + P08034:p.Leu108Pro chrX 70226908 70226926 VAR_002077 + P08034:p.111_116del chrX 70226935 70226938 VAR_008138 + P08034:p.Val120Glu chrX 70226935 70226938 VAR_029921 + P08034:p.120del chrX 70226947 70226950 VAR_002078 + P08034:p.Lys124Asn chrX 70226950 70226953 VAR_029922 + P08034:p.Val125Asp chrX 70226953 70226956 VAR_029923 + P08034:p.His126Tyr chrX 70226956 70226959 VAR_029924 + P08034:p.Ile127Met chrX 70226956 70226959 VAR_029925 + P08034:p.Ile127Ser chrX 70226959 70226962 VAR_002079 + P08034:p.Ser128Pro chrX 70226965 70226968 VAR_029926 + P08034:p.Thr130Ile chrX 70226968 70226971 VAR_029927 + P08034:p.Leu131Pro chrX 70226974 70226977 VAR_002080 + P08034:p.Trp133Cys chrX 70226974 70226977 VAR_002081 + P08034:p.Trp133Arg chrX 70226980 70226983 VAR_002082 + P08034:p.Tyr135Cys chrX 70226983 70226986 VAR_021611 + P08034:p.Val136Ala chrX 70226989 70226992 VAR_029928 + P08034:p.Ser138Asn chrX 70226992 70226995 VAR_002083 + P08034:p.Val139Met chrX 70226998 70227001 VAR_002084 + P08034:p.Phe141Leu chrX 70227001 70227004 VAR_002085 + P08034:p.Arg142Glu chrX 70227001 70227004 VAR_029929 + P08034:p.Arg142Gln chrX 70227001 70227004 VAR_002086 + P08034:p.Arg142Trp chrX 70227004 70227007 VAR_002087 + P08034:p.143del chrX 70227013 70227016 VAR_029930 + P08034:p.Glu146Lys chrX 70227016 70227019 VAR_029931 + P08034:p.Ala147Asp chrX 70227022 70227025 VAR_002088 + P08034:p.Phe149Ile chrX 70227022 70227025 VAR_029932 + P08034:p.Phe149Val chrX 70227028 70227031 VAR_029933 + P08034:p.Tyr151Ser chrX 70227034 70227037 VAR_029934 + P08034:p.Phe153Ser chrX 70227043 70227046 VAR_002089 + P08034:p.Leu156Phe chrX 70227043 70227046 VAR_002090 + P08034:p.Leu156Arg chrX 70227046 70227049 VAR_002091 + P08034:p.Tyr157Cys chrX 70227049 70227052 VAR_002092 + P08034:p.Pro158Ala chrX 70227049 70227052 VAR_002093 + P08034:p.Pro158Arg chrX 70227049 70227052 VAR_002094 + P08034:p.Pro158Ser chrX 70227052 70227055 VAR_029935 + P08034:p.Gly159Asp chrX 70227052 70227055 VAR_002095 + P08034:p.Gly159Ser chrX 70227055 70227058 VAR_002096 + P08034:p.Tyr160His chrX 70227058 70227061 VAR_002097 + P08034:p.Ala161Pro chrX 70227067 70227070 VAR_002098 + P08034:p.Arg164Gln chrX 70227067 70227070 VAR_002099 + P08034:p.Arg164Trp chrX 70227079 70227082 VAR_021612 + P08034:p.Cys168Arg chrX 70227079 70227082 VAR_029936 + P08034:p.Cys168Tyr chrX 70227091 70227094 VAR_029937 + P08034:p.Pro172Ala chrX 70227091 70227094 VAR_002100 + P08034:p.Pro172Leu chrX 70227091 70227094 VAR_029938 + P08034:p.Pro172Arg chrX 70227091 70227094 VAR_002101 + P08034:p.Pro172Ser chrX 70227094 70227097 VAR_002102 + P08034:p.Cys173Arg chrX 70227100 70227103 VAR_002103 + P08034:p.Asn175Asp chrX 70227106 70227109 VAR_029939 + P08034:p.Val177Ala chrX 70227106 70227109 VAR_029940 + P08034:p.Val177Glu chrX 70227109 70227112 VAR_002104 + P08034:p.Asp178Tyr chrX 70227112 70227115 VAR_002105 + P08034:p.Cys179Arg chrX 70227115 70227118 VAR_002106 + P08034:p.Phe180Leu chrX 70227115 70227118 VAR_029941 + P08034:p.Phe180Ser chrX 70227118 70227121 VAR_029942 + P08034:p.Val181Ala chrX 70227118 70227121 VAR_002107 + P08034:p.Val181Met chrX 70227121 70227124 VAR_002108 + P08034:p.Ser182Thr chrX 70227124 70227127 VAR_002109 + P08034:p.Arg183Cys chrX 70227124 70227127 VAR_002110 + P08034:p.Arg183His chrX 70227124 70227127 VAR_002111 + P08034:p.Arg183Ser chrX 70227127 70227130 VAR_029943 + P08034:p.Pro184Leu chrX 70227127 70227130 VAR_002112 + P08034:p.Pro184Arg chrX 70227130 70227133 VAR_002113 + P08034:p.185del chrX 70227133 70227136 VAR_002114 + P08034:p.Glu186Lys chrX 70227136 70227139 VAR_002115 + P08034:p.Lys187Glu chrX 70227142 70227145 VAR_002116 + P08034:p.Val189Gly chrX 70227142 70227145 VAR_002117 + P08034:p.Val189Ile chrX 70227148 70227157 VAR_002118 + P08034:p.191_193del chrX 70227148 70227151 VAR_029944 + P08034:p.Thr191Ala chrX 70227151 70227154 VAR_029945 + P08034:p.Val192Phe chrX 70227154 70227157 VAR_002119 + P08034:p.Phe193Cys chrX 70227154 70227157 VAR_029946 + P08034:p.Phe193Leu chrX 70227157 70227160 VAR_002120 + P08034:p.Met194Val chrX 70227169 70227172 VAR_002121 + P08034:p.Ser198Phe chrX 70227172 70227175 VAR_002122 + P08034:p.Gly199Arg chrX 70227178 70227181 VAR_002123 + P08034:p.Cys201Arg chrX 70227178 70227181 VAR_029947 + P08034:p.Cys201Tyr chrX 70227184 70227187 VAR_002124 + P08034:p.Ile203Asn chrX 70227187 70227190 VAR_002125 + P08034:p.Leu204Phe chrX 70227187 70227190 VAR_029948 + P08034:p.Leu204Val chrX 70227190 70227193 VAR_029949 + P08034:p.Asn205Ile chrX 70227190 70227193 VAR_002126 + P08034:p.Asn205Ser chrX 70227199 70227202 VAR_029950 + P08034:p.Glu208Gly chrX 70227199 70227202 VAR_002127 + P08034:p.Glu208Lys chrX 70227202 70227205 VAR_029951 + P08034:p.209del chrX 70227208 70227211 VAR_029952 + P08034:p.Tyr211His chrX 70227214 70227220 VAR_002128 + P08034:p.Ile213_Ile214delinsLeu chrX 70227214 70227217 VAR_029953 + P08034:p.Ile213Val chrX 70227220 70227223 VAR_029954 + P08034:p.Arg215Gln chrX 70227220 70227223 VAR_002129 + P08034:p.Arg215Trp chrX 70227232 70227235 VAR_002130 + P08034:p.Arg219Cys chrX 70227232 70227235 VAR_002131 + P08034:p.Arg219His chrX 70227235 70227238 VAR_002132 + P08034:p.Arg220Gly chrX 70227265 70227268 VAR_002133 + P08034:p.Arg230Cys chrX 70227265 70227268 VAR_002134 + P08034:p.Arg230Leu chrX 70227280 70227283 VAR_002135 + P08034:p.Phe235Cys chrX 70227289 70227292 VAR_002136 + P08034:p.Arg238His chrX 70227292 70227295 VAR_029955 + P08034:p.Leu239Ile chrX 70227367 70227370 VAR_029956 + P08034:p.Arg264Cys chrX 70227415 70227418 VAR_029957 + P08034:p.Cys280Gly chr13 19661684 19661687 VAR_015453 - P29033:p.Gly12Arg chr13 19661669 19661672 VAR_015454 - P29033:p.Ser17Phe chr13 19661639 19661642 VAR_002137 - P29033:p.Val27Ile chr13 19661624 19661627 VAR_023605 - P29033:p.Arg32His chr13 19661624 19661627 VAR_016839 - P29033:p.Arg32Leu chr13 19661618 19661621 VAR_002138 - P29033:p.Met34Thr chr13 19661609 19661612 VAR_002139 - P29033:p.Val37Ile chr13 19661588 19661591 VAR_008709 - P29033:p.Trp44Cys chr13 19661588 19661591 VAR_032749 - P29033:p.Trp44Ser chr13 19661585 19661588 VAR_015455 - P29033:p.Gly45Glu chr13 19661576 19661585 VAR_023606 - P29033:p.Asp46_Gln48delinsGlu chr13 19661570 19661573 VAR_015456 - P29033:p.Asp50Asn chr13 19661570 19661573 VAR_015935 - P29033:p.Asp50Tyr chr13 19661558 19661561 VAR_032750 - P29033:p.Asn54Lys chr13 19661543 19661546 VAR_009965 - P29033:p.Gly59Ala chr13 19661543 19661546 VAR_032751 - P29033:p.Gly59Ser chr13 19661522 19661525 VAR_008710 - P29033:p.Asp66His chr13 19661507 19661510 VAR_015457 - P29033:p.Ile71Thr chr13 19661495 19661498 VAR_015936 - P29033:p.Arg75Gln chr13 19661495 19661498 VAR_002140 - P29033:p.Arg75Trp chr13 19661489 19661492 VAR_002141 - P29033:p.Trp77Arg chr13 19661483 19661486 VAR_023607 - P29033:p.Leu79Pro chr13 19661480 19661483 VAR_023608 - P29033:p.Gln80Lys chr13 19661471 19661474 VAR_002142 - P29033:p.Phe83Leu chr13 19661468 19661471 VAR_002143 - P29033:p.Val84Leu chr13 19661462 19661465 VAR_015458 - P29033:p.Thr86Arg chr13 19661450 19661453 VAR_015937 - P29033:p.Leu90Pro chr13 19661441 19661444 VAR_023609 - P29033:p.Met93Ile chr13 19661435 19661438 VAR_002144 - P29033:p.Val95Met chr13 19661387 19661390 VAR_015938 - P29033:p.Ile111Thr chr13 19661381 19661384 VAR_002145 - P29033:p.Ser113Arg chr13 19661378 19661381 VAR_009966 - P29033:p.Glu114Gly chr13 19661360 19661363 VAR_023610 - P29033:p.120del chr13 19661351 19661354 VAR_015459 - P29033:p.Thr123Asn chr13 19661339 19661342 VAR_015939 - P29033:p.Arg127His chr13 19661333 19661336 VAR_023611 - P29033:p.Glu129Lys chr13 19661291 19661294 VAR_015940 - P29033:p.Arg143Gln chr13 19661291 19661294 VAR_015460 - P29033:p.Arg143Trp chr13 19661261 19661264 VAR_009967 - P29033:p.Val153Ile chr13 19661243 19661246 VAR_015941 - P29033:p.Asp159Val chr13 19661240 19661243 VAR_002146 - P29033:p.Gly160Ser chr13 19661225 19661228 VAR_015942 - P29033:p.Arg165Trp chr13 19661219 19661222 VAR_023612 - P29033:p.Val167Met chr13 19661213 19661216 VAR_009968 - P29033:p.Cys169Tyr chr13 19661186 19661189 VAR_023613 - P29033:p.Val178Ala chr13 19661183 19661186 VAR_032752 - P29033:p.Asp179Asn chr13 19661168 19661171 VAR_015943 - P29033:p.Arg184Pro chr13 19661168 19661171 VAR_023614 - P29033:p.Arg184Gln chr13 19661168 19661171 VAR_009969 - P29033:p.Arg184Trp chr13 19661147 19661150 VAR_015461 - P29033:p.Phe191Leu chr13 19661129 19661132 VAR_023615 - P29033:p.Ala197Ser chr13 19661114 19661117 VAR_015944 - P29033:p.Cys202Phe chr13 19661111 19661114 VAR_023616 - P29033:p.Ile203Lys chr13 19661111 19661114 VAR_009970 - P29033:p.Ile203Thr chr13 19661078 19661081 VAR_023617 - P29033:p.Leu214Pro chr1 34919489 34919492 VAR_002147 + O75712:p.Gly12Asp chr1 34919489 34919492 VAR_002148 + O75712:p.Gly12Arg chr1 34919549 34919552 VAR_011978 + O75712:p.Arg32Trp chr1 34919579 34919582 VAR_015085 + O75712:p.Arg42Pro chr1 34919711 34919714 VAR_002149 + O75712:p.Cys86Ser chr1 34919864 34919867 VAR_015086 + O75712:p.Phe137Leu chr1 34919876 34919879 VAR_015087 + O75712:p.Ile141Val chr1 34920002 34920005 VAR_002150 + O75712:p.Glu183Lys chr1 34920053 34920056 VAR_022423 + O75712:p.Val200Ile chr1 34896254 34896257 VAR_015088 + Q9NTQ9:p.Arg103Cys chr1 34896317 34896320 VAR_015089 + Q9NTQ9:p.Arg124Gln chr1 34896356 34896359 VAR_010206 + Q9NTQ9:p.Phe137Leu chr1 34896425 34896428 VAR_015090 + Q9NTQ9:p.Arg160Cys chr1 34896452 34896455 VAR_015091 + Q9NTQ9:p.Cys169Trp chr1 34896557 34896560 VAR_015092 + Q9NTQ9:p.Glu204Ala chr13 19695604 19695607 VAR_008711 - O95452:p.Thr5Met chr13 19695586 19695589 VAR_015696 - O95452:p.Gly11Arg chr13 19695508 19695511 VAR_016838 - O95452:p.Val37Glu chr13 19695355 19695358 VAR_015697 - O95452:p.Ala88Val chr13 19695202 19695205 VAR_022424 - O95452:p.Ser139Gly chr13 19695022 19695025 VAR_022425 - O95452:p.Ser199Thr chr2 218855347 218855350 VAR_021061 - P25024:p.Met31Arg chr2 218855227 218855230 VAR_016236 - P25024:p.Arg71Cys chr2 218854636 218854639 VAR_026525 - P25024:p.Met268Leu chr2 218854612 218854615 VAR_003479 - P25024:p.Ser276Thr chr2 218854522 218854525 VAR_016237 - P25024:p.Ala306Thr chr2 218854435 218854438 VAR_016238 - P25024:p.Arg335Cys chr2 218854414 218854417 VAR_021062 - P25024:p.Ser342Leu chr2 218825267 218825270 VAR_014679 + P25025:p.Arg80Cys chrX 70619466 70619469 VAR_016240 - P49682:p.Arg292Gln chrX 70619253 70619256 VAR_016241 - P49682:p.Ala363Thr chr11 118269562 118269565 VAR_035757 + P32302:p.Glu34Lys chr11 118270492 118270495 VAR_011838 + P32302:p.Gly344Ser chr3 45962983 45962986 VAR_024253 + O00574:p.Glu3Lys chr3 45963049 45963052 VAR_003506 + O00574:p.Asp25Ala chr2 237271762 237271765 VAR_027477 + P25106:p.Leu219Trp chr10 35937251 35937254 VAR_037640 + Q96KN9:p.Arg269His chr10 35937257 35937260 VAR_037641 + Q96KN9:p.Gly271Arg chr1 224652461 224652464 VAR_023754 + Q5T442:p.Pro90Ser chr1 224653007 224653010 VAR_023755 + Q5T442:p.Tyr272Asp chr1 224653049 224653052 VAR_023756 + Q5T442:p.Met286Thr chr8 145222858 145222861 VAR_013631 + P08574:p.Leu89Val chr16 87242009 87242012 VAR_012755 - P13498:p.Gly24Arg chr16 87240680 87240683 VAR_005123 - P13498:p.Arg90Gln chr16 87240668 87240671 VAR_005124 - P13498:p.His94Arg chr16 87240039 87240042 VAR_005125 - P13498:p.Ser118Arg chr16 87237381 87237384 VAR_005126 - P13498:p.Pro156Gln chrX 37397569 37397572 VAR_007873 + P04839:p.Gly20Arg chrX 37397632 37397635 VAR_025613 + P04839:p.Tyr41Asp chrX 37398977 37398980 VAR_025614 + P04839:p.Arg54Met chrX 37398977 37398980 VAR_007874 + P04839:p.Arg54Ser chrX 37398980 37398983 VAR_025615 + P04839:p.Ala55Asp chrX 37398986 37398989 VAR_008845 + P04839:p.Ala57Glu chrX 37398992 37398995 VAR_007875 + P04839:p.Cys59Arg chrX 37407488 37407491 VAR_002432 + P04839:p.His101Arg chrX 37407488 37407491 VAR_007876 + P04839:p.His101Tyr chrX 37409147 37409150 VAR_007877 + P04839:p.His119Arg chrX 37409258 37409261 VAR_002433 + P04839:p.Ala156Thr chrX 37411557 37411560 VAR_007878 + P04839:p.His209Gln chrX 37411557 37411560 VAR_025616 + P04839:p.His209Arg chrX 37411557 37411560 VAR_002434 + P04839:p.His209Tyr chrX 37411575 37411578 VAR_007879 + P04839:p.215del chrX 37411596 37411599 VAR_007880 + P04839:p.His222Asn chrX 37411596 37411599 VAR_007881 + P04839:p.His222Arg chrX 37411596 37411599 VAR_007882 + P04839:p.His222Tyr chrX 37411599 37411602 VAR_007883 + P04839:p.Gly223Leu chrX 37411602 37411605 VAR_025617 + P04839:p.Ala224Gly chrX 37411605 37411607 VAR_002435 + P04839:p.Glu225Val chrX 37414420 37414421 VAR_002435 + P04839:p.Glu225Val chrX 37414475 37414478 VAR_007884 + P04839:p.Cys244Arg chrX 37414475 37414478 VAR_002436 + P04839:p.Cys244Ser chrX 37414475 37414478 VAR_002437 + P04839:p.Cys244Tyr chrX 37419355 37419358 VAR_016880 + P04839:p.His303Asn chrX 37419358 37419361 VAR_016881 + P04839:p.Pro304Arg chrX 37419373 37419376 VAR_007885 + P04839:p.Glu309Lys chrX 37419412 37419415 VAR_007886 + P04839:p.Gly322Glu chrX 37419421 37419424 VAR_007887 + P04839:p.Ile325Phe chrX 37419445 37419448 VAR_007888 + P04839:p.Ser333Pro chrX 37419460 37419463 VAR_025618 + P04839:p.His338Tyr chrX 37419463 37419466 VAR_002438 + P04839:p.Pro339His chrX 37419478 37419481 VAR_025619 + P04839:p.Ser344Phe chrX 37419514 37419517 VAR_007889 + P04839:p.Arg356Pro chrX 37419538 37419541 VAR_025620 + P04839:p.Gly364Arg chrX 37420488 37420491 VAR_002439 + P04839:p.Gly389Ala chrX 37420488 37420491 VAR_025621 + P04839:p.Gly389Glu chrX 37420536 37420539 VAR_007890 + P04839:p.Met405Arg chrX 37420545 37420548 VAR_007891 + P04839:p.Gly408Glu chrX 37420545 37420548 VAR_007892 + P04839:p.Gly408Arg chrX 37420566 37420569 VAR_002440 + P04839:p.Pro415His chrX 37420566 37420569 VAR_007893 + P04839:p.Pro415Leu chrX 37420581 37420584 VAR_025622 + P04839:p.Leu420Pro chrX 37420587 37420590 VAR_007894 + P04839:p.Ser422Pro chrX 37421898 37421901 VAR_007895 + P04839:p.Trp453Arg chrX 37425072 37425075 VAR_002441 + P04839:p.Asp500Gly chrX 37425120 37425123 VAR_007896 + P04839:p.Trp516Cys chrX 37425120 37425123 VAR_025623 + P04839:p.Trp516Arg chrX 37425123 37425126 VAR_025624 + P04839:p.Asp517Glu chrX 37426273 37426276 VAR_007897 + P04839:p.Val534Asp chrX 37426282 37426285 VAR_007898 + P04839:p.Cys537Arg chr2 172235425 172235428 VAR_038065 + Q53TN4:p.Met156Thr chr2 172236658 172236661 VAR_038066 + Q53TN4:p.Arg226His chr2 172236778 172236781 VAR_038067 + Q53TN4:p.Ser266Asn chr7 24936679 24936682 VAR_002204 - P99999:p.Met66Leu chr9 102847035 102847038 VAR_020100 + Q14093:p.Lys190Glu chr9 102847089 102847092 VAR_020101 + Q14093:p.Gly208Asp chr9 102847422 102847425 VAR_020102 + Q14093:p.Ala319Glu chr1 85760599 85760602 VAR_018934 + O00622:p.Arg334Trp chr3 123526829 123526832 VAR_002205 + P01040:p.1del chr21 44020566 44020569 VAR_002206 - P04080:p.Gly4Arg chr20 23566424 23566427 VAR_011893 - P01034:p.Ala25Thr chr20 23563965 23563968 VAR_002207 - P01034:p.Leu94Gln chr20 23808175 23808178 VAR_002208 - P28325:p.Cys46Arg chr20 23679410 23679413 VAR_028933 - P01037:p.Pro31Leu chr20 23676491 23676494 VAR_028934 - P01037:p.Asn129Asp chr20 23676485 23676488 VAR_028935 - P01037:p.Arg131Met chr20 23676473 23676476 VAR_028936 - P01037:p.Lys135Asn chr20 23615835 23615838 VAR_036549 - P01036:p.Thr77Asn chr8 7731443 7731446 VAR_024767 + Q8WTQ1:p.Ile10Val chr7 34753143 34753146 VAR_037332 - Q2PZI1:p.Gly502Val chr19 37637744 37637747 VAR_037336 + Q6ZPD9:p.Met350Val chr2 242394671 242394674 VAR_025889 + Q8N465:p.Arg15Gly chr2 242401927 242401930 VAR_025890 + Q8N465:p.Ile147Ser chr2 242410775 242410778 VAR_025891 + Q8N465:p.Asp375Tyr chr2 242415418 242415419 VAR_025892 + Q8N465:p.Gly436Val chr2 242427114 242427116 VAR_025892 + Q8N465:p.Gly436Val chr2 242427122 242427125 VAR_025893 + Q8N465:p.Asn439Asp chr2 242427137 242427140 VAR_025894 + Q8N465:p.Val444Ala chr14 58177230 58177233 VAR_036461 + Q9NYF0:p.Gly124Cys chr14 22113935 22113938 VAR_018825 - P61803:p.Ala83Thr chr1 203884174 203884177 VAR_001997 + P08174:p.Arg52Leu chr1 203884174 203884177 VAR_001998 + P08174:p.Arg52Pro chr1 203884264 203884267 VAR_001999 + P08174:p.Leu82Arg chr1 203888507 203888510 VAR_002000 + P08174:p.Ser199Leu chr1 203892861 203892864 VAR_002001 + P08174:p.Ala227Pro chr1 203892900 203892903 VAR_015884 + P08174:p.Arg240His chr13 104917445 104917448 VAR_014313 + P59103:p.Arg30Lys chr3 16615076 16615079 VAR_017780 - Q92904:p.Thr12Ala chr3 16614677 16614680 VAR_017781 - Q92904:p.Thr54Ala chr19 1385827 1385830 VAR_035480 + Q96EP5:p.Ser381Thr chr20 158304 158307 VAR_024327 + Q9H1M3:p.Thr149Ser chr9 119050654 119050657 VAR_029989 - O60477:p.Ser347Arg chr9 119050621 119050624 VAR_029990 - O60477:p.Arg358His chr9 119009890 119009893 VAR_024930 - O60477:p.Ala437Thr chr9 119009065 119009068 VAR_036336 - O60477:p.Pro712Thr chr12 10766752 10766755 VAR_013114 - P16989:p.Thr75Ala chr3 32553507 32553510 VAR_023325 - Q9Y6G9:p.Gln277Arg chr17 40467144 40467147 VAR_038406 - Q8WVC6:p.Asn84Ile chr18 48686500 48686503 VAR_003909 + P43146:p.Met168Thr chr18 48686599 48686602 VAR_003910 + P43146:p.Arg201Gly chr18 49190932 49190935 VAR_024495 + P43146:p.Met1017Val chr18 49190998 49191001 VAR_035511 + P43146:p.Phe1039Ser chr18 49306995 49306998 VAR_003911 + P43146:p.Pro1375His chr11 31306382 31306385 VAR_037284 - P59894:p.Glu7Gly chr11 31285946 31285949 VAR_033767 - P59894:p.Val83Met chr6 24399179 24399182 VAR_022890 - Q9UHG0:p.Ser221Gly chr2 171500641 171500644 VAR_031021 + Q99259:p.Ser12Cys chr2 171526104 171526107 VAR_018861 + Q99259:p.Ile228Leu chr2 171539040 171539043 VAR_011882 + Q99259:p.Val474Gly chr2 171540892 171540895 VAR_011883 + Q99259:p.Arg532Gln chr2 171541806 171541809 VAR_011884 + Q99259:p.Phe565Leu chr10 26545777 26545780 VAR_018821 + Q05329:p.Gly12Arg chr10 26548060 26548063 VAR_018822 + Q05329:p.Lys124Asn chr10 26548147 26548150 VAR_029176 + Q05329:p.Pro153Gln chr10 26553555 26553558 VAR_029177 + Q05329:p.Gly232Glu chr10 26574870 26574873 VAR_018823 + Q05329:p.Lys286Arg chr10 26599574 26599577 VAR_029178 + Q05329:p.Gly326Ala chr10 26602600 26602603 VAR_018824 + Q05329:p.Arg375Gln chr15 48342780 48342783 VAR_036470 - P19113:p.Glu49Val chr15 48332195 48332198 VAR_036471 - P19113:p.Glu285Lys chr15 48321805 48321808 VAR_033846 - P19113:p.Glu644Asp chr5 134810472 134810475 VAR_025758 - Q8TF63:p.Thr75Pro chr5 134810406 134810409 VAR_025759 - Q8TF63:p.Asn97Asp chr11 125681689 125681692 VAR_027958 + Q96C86:p.Gly73Glu chr10 115602757 115602760 VAR_023286 - Q6PJP8:p.Lys58Glu chr10 115602754 115602757 VAR_023287 - Q6PJP8:p.Glu59Asp chr10 115602718 115602721 VAR_023288 - Q6PJP8:p.Gly71Asp chr10 115599992 115599995 VAR_023289 - Q6PJP8:p.Pro287Leu chr10 115599107 115599110 VAR_030574 - Q6PJP8:p.Gly582Trp chr10 115592179 115592182 VAR_023291 - Q6PJP8:p.Ile859Phe chr1 114160385 114160388 VAR_023292 + Q9H816:p.Arg46Leu chr1 114160430 114160433 VAR_023293 + Q9H816:p.His61Tyr chr1 114166639 114166642 VAR_023294 + Q9H816:p.Asp462Asn chr10 15035910 15035913 VAR_023077 - Q96SD1:p.His35Asp chr10 15018550 15018553 VAR_023078 - Q96SD1:p.Gly118Val chr10 15017526 15017529 VAR_023079 - Q96SD1:p.Gly135Glu chr1 151832782 151832785 VAR_030868 + Q5T197:p.Met512Leu chr2 74516883 74516886 VAR_015850 - Q14203:p.Gly59Ser chr2 74510474 74510477 VAR_001373 - Q14203:p.Ala163Pro chr1 45147723 45147726 VAR_022567 + P06132:p.Gly25Glu chr1 45147902 45147905 VAR_022568 + P06132:p.Phe46Leu chr1 45147950 45147953 VAR_009103 + P06132:p.Pro62Leu chr1 45148080 45148083 VAR_007910 + P06132:p.Ala80Gly chr1 45148080 45148083 VAR_022569 + P06132:p.Ala80Ser chr1 45148481 45148484 VAR_009104 + P06132:p.Val134Gln chr1 45148505 45148508 VAR_010985 + P06132:p.Arg142Gln chr1 45148511 45148514 VAR_022570 + P06132:p.Arg144Pro chr1 45148547 45148550 VAR_022571 + P06132:p.Gly156Asp chr1 45148679 45148682 VAR_010986 + P06132:p.Leu161Gln chr1 45148691 45148694 VAR_007911 + P06132:p.Met165Arg chr1 45148697 45148700 VAR_007714 + P06132:p.Glu167Lys chr1 45148775 45148778 VAR_022572 + P06132:p.Arg193Pro chr1 45148781 45148784 VAR_007912 + P06132:p.Leu195Phe chr1 45149212 45149215 VAR_022573 + P06132:p.Leu216Gln chr1 45149218 45149221 VAR_022574 + P06132:p.Glu218Lys chr1 45149221 45149224 VAR_010987 + P06132:p.Ser219Phe chr1 45149224 45149227 VAR_009105 + P06132:p.His220Pro chr1 45149251 45149254 VAR_009106 + P06132:p.Phe229Leu chr1 45149260 45149263 VAR_022575 + P06132:p.Phe232Leu chr1 45149269 45149272 VAR_010988 + P06132:p.Pro235Ser chr1 45149323 45149326 VAR_007913 + P06132:p.Leu253Gln chr1 45149503 45149506 VAR_022576 + P06132:p.Ile260Thr chr1 45149566 45149569 VAR_007715 + P06132:p.Gly281Glu chr1 45149566 45149569 VAR_007716 + P06132:p.Gly281Val chr1 45149569 45149572 VAR_022577 + P06132:p.Leu282Arg chr1 45149599 45149601 VAR_007717 + P06132:p.Arg292Gly chr1 45149704 45149705 VAR_007717 + P06132:p.Arg292Gly chr1 45149735 45149738 VAR_022578 + P06132:p.Gly303Ser chr1 45149738 45149741 VAR_007914 + P06132:p.Asn304Lys chr1 45149759 45149762 VAR_009107 + P06132:p.Tyr311Cys chr1 45150110 45150113 VAR_007915 + P06132:p.Gly318Arg chr1 45150128 45150131 VAR_009108 + P06132:p.Met324Thr chr1 45150152 45150155 VAR_007916 + P06132:p.Arg332His chr1 45150158 45150161 VAR_007917 + P06132:p.Ile334Thr chrX 110459654 110459657 VAR_010202 - O43602:p.Arg120His chrX 110459654 110459657 VAR_007824 - O43602:p.Arg120Leu chrX 110459588 110459591 VAR_007826 - O43602:p.Gly142Ala chrX 110459582 110459585 VAR_007827 - O43602:p.Arg144Ser chrX 110450518 110450521 VAR_007837 - O43602:p.Thr264Ile chrX 110450476 110450479 VAR_007839 - O43602:p.Val278Ile chr11 60840559 60840562 VAR_023074 - Q16531:p.Leu427Phe chr11 47212739 47212742 VAR_016337 + Q92466:p.Met215Thr chr11 47212910 47212913 VAR_010141 + Q92466:p.Lys244Glu chr11 47212997 47213000 VAR_010142 + Q92466:p.Arg273His chr11 47213057 47213060 VAR_016338 + Q92466:p.Ala293Thr chr7 50385809 50385812 VAR_019214 - P20711:p.Glu61Asp chr7 50381830 50381833 VAR_019309 - P20711:p.Gly102Ser chr7 50370127 50370130 VAR_014789 - P20711:p.Pro210Leu chr7 50370106 50370109 VAR_014790 - P20711:p.Met217Val chr7 50345963 50345966 VAR_019215 - P20711:p.Met239Ile chr7 50345963 50345966 VAR_019216 - P20711:p.Met239Leu chr7 50305194 50305197 VAR_019217 - P20711:p.Arg462Gln chr2 9479131 9479134 VAR_020307 + O43150:p.Glu748Asp chr1 23506152 23506155 VAR_035612 - Q8TDY4:p.Ala617Thr chr11 103413165 103413168 VAR_032259 + Q8WTU0:p.Gly136Ser chr11 103413183 103413186 VAR_032260 + Q8WTU0:p.Ser142Gly chr11 103413474 103413477 VAR_032261 + Q8WTU0:p.Gly239Glu chr12 56197023 56197026 VAR_036000 - P35638:p.Ala115Val chr11 108099129 108099132 VAR_035840 + Q13206:p.Leu566Val chr12 31122708 31122711 VAR_024808 + Q96FC9:p.Ile39Ser chr12 31141127 31141130 VAR_024809 + Q96FC9:p.Gln567Glu chr12 31141151 31141154 VAR_024810 + Q96FC9:p.Thr575Met chr2 118291284 118291287 VAR_035841 + Q9NVP1:p.Gly41Arg chr2 118291443 118291446 VAR_013293 + Q9NVP1:p.Thr94Ser chr2 118304455 118304458 VAR_033857 + Q9NVP1:p.Lys647Arg chr9 132499965 132499968 VAR_023065 - Q9H8H2:p.Ile799Val chr9 132499833 132499836 VAR_023066 - Q9H8H2:p.Arg843Gln chrX 40959760 40959763 VAR_035839 + O00571:p.Arg294Thr chr5 134141167 134141170 VAR_028079 + Q7L014:p.Glu207Gln chr19 18894440 18894443 VAR_033858 + Q9Y6V7:p.Arg222His chr19 18896464 18896467 VAR_033859 + Q9Y6V7:p.Ser296Ala chr5 55111595 55111598 VAR_019574 + Q9NQI0:p.Gly148Asp chr12 112059584 112059587 VAR_033860 - Q8TDD1:p.Pro821Leu chr12 122616912 122616915 VAR_027789 + Q8NHQ9:p.Val101Leu chr12 122618164 122618167 VAR_027790 + Q8NHQ9:p.Glu154Gly chr12 122622644 122622647 VAR_027791 + Q8NHQ9:p.Asn264Ser chr12 122629429 122629432 VAR_027792 + Q8NHQ9:p.Asn556Ser chr9 32516143 32516146 VAR_023747 - O95786:p.Arg7Cys chr9 32470250 32470253 VAR_023748 - O95786:p.Asp580Glu chr1 197367294 197367297 VAR_035842 - Q5T1V6:p.Pro77Thr chr1 197367204 197367207 VAR_031424 - Q5T1V6:p.Ile107Val chr1 197349909 197349912 VAR_033001 - Q5T1V6:p.Ser472Arg chr17 59927129 59927132 VAR_029241 - P17844:p.Ser480Ala chr11 678016 678019 VAR_013725 - O75398:p.Glu186Val chr11 678001 678004 VAR_013726 - O75398:p.Lys191Ile chr11 678001 678004 VAR_013727 - O75398:p.Lys191Asn chr11 677968 677980 VAR_013728 - O75398:p.Tyr199_Glu202delinsCysAspAsnAsp chr11 677968 677971 VAR_013729 - O75398:p.Glu202Asp chr11 677920 677923 VAR_013730 - O75398:p.Arg218Lys chr11 669757 669766 VAR_013731 - O75398:p.Asp350_Ala352delinsGlyGlnThr chr11 669745 669748 VAR_013732 - O75398:p.Glu356His chr11 669721 669724 VAR_013733 - O75398:p.Ser364Asn chr11 669712 669715 VAR_013734 - O75398:p.Gln367His chr11 669703 669706 VAR_013735 - O75398:p.Val370Leu chr11 668757 668760 VAR_013736 - O75398:p.Tyr397Phe chr11 664712 664715 VAR_013737 - O75398:p.Val442Ala chr11 664691 664694 VAR_013738 - O75398:p.Glu449Lys chr11 664682 664688 VAR_013739 - O75398:p.Arg451_Ser452delinsGlyIle chr11 664634 664637 VAR_013740 - O75398:p.Gln468His chr11 664601 664604 VAR_013741 - O75398:p.His479Leu chr11 664544 664547 VAR_013742 - O75398:p.Glu498Lys chr11 643976 643979 VAR_013743 - O75398:p.Thr526Asn chr11 643964 643967 VAR_013744 - O75398:p.Arg530Leu chr11 634633 634639 VAR_013745 - O75398:p.Gln537_His538delinsHisLeu chr11 634621 634624 VAR_013746 - O75398:p.Gln542His chr11 634612 634615 VAR_013747 - O75398:p.Ala545Gly chr11 634612 634615 VAR_013748 - O75398:p.Ala545Val chr8 91133289 91133292 VAR_012034 + Q16698:p.Lys333Asn chr8 6781023 6781026 VAR_036315 - P12838:p.Arg74Gln chr6 35393696 35393699 VAR_033193 + Q9H4E7:p.Asn287Thr chr6 35397000 35397003 VAR_033194 + Q9H4E7:p.Arg578His chr1 206392593 206392596 VAR_028827 + Q68CQ4:p.Gln67Glu chr1 194343521 194343524 VAR_035055 - Q6P3S1:p.Val216Met chr19 6431010 6431013 VAR_035056 - Q8IV53:p.Ala23Thr chr19 6419904 6419907 VAR_035057 - Q8IV53:p.Arg489Cys chr19 6419409 6419412 VAR_035058 - Q8IV53:p.Ala542Val chr7 139697741 139697744 VAR_026857 - Q9ULE3:p.Glu729Lys chr7 139680475 139680478 VAR_026858 - Q9ULE3:p.Ile777Thr chr1 114880641 114880644 VAR_026859 - Q68D51:p.Asp2Glu chr1 114880137 114880140 VAR_026860 - Q68D51:p.Asp170Gly chr9 19336709 19336712 VAR_022891 + Q5VZ89:p.Thr1030Ala chr9 19336940 19336943 VAR_022892 + Q5VZ89:p.Asn1107His chr5 59937342 59937345 VAR_031819 - Q8WUY9:p.Arg332Met chr5 59935031 59935034 VAR_031820 - Q8WUY9:p.Val395Leu chr8 69119369 69119372 VAR_032163 + Q70Z35:p.Asp312Asn chr8 69152224 69152227 VAR_035973 + Q70Z35:p.Val537Ile chr8 69299350 69299353 VAR_035974 + Q70Z35:p.Ala1571Glu chr12 99159930 99159933 VAR_031815 - Q8N2C3:p.His122Arg chr22 30535556 30535559 VAR_024338 + O75140:p.Ser491Thr chr8 124100719 124100722 VAR_019516 - Q9BUN8:p.Ile171Val chr22 22503684 22503687 VAR_019517 - Q96Q80:p.Ala211Val chr2 220108692 220108695 VAR_042448 + P17661:p.Ser2Ile chr2 220108824 220108827 VAR_042449 + P17661:p.Ser46Phe chr2 220108824 220108827 VAR_042450 + P17661:p.Ser46Tyr chr2 220109205 220109226 VAR_009188 + P17661:p.173_179del chr2 220110379 220110382 VAR_042451 + P17661:p.Ala213Val chr2 220110570 220110573 VAR_042452 + P17661:p.Glu245Asp chr2 220111165 220111168 VAR_007900 + P17661:p.Ala337Pro chr2 220111566 220111569 VAR_042453 + P17661:p.Asn342Asp chr2 220111575 220111578 VAR_009189 + P17661:p.Leu345Pro chr2 220111590 220111593 VAR_042454 + P17661:p.Arg350Pro chr2 220111605 220111608 VAR_042455 + P17661:p.Arg355Pro chr2 220111611 220111614 VAR_042456 + P17661:p.Ala357Pro chr2 220111617 220111626 VAR_018769 + P17661:p.359_361del chr2 220111620 220111623 VAR_007901 + P17661:p.Ala360Pro chr2 220111638 220111641 VAR_018770 + P17661:p.366del chr2 220111650 220111653 VAR_042457 + P17661:p.Leu370Pro chr2 220111695 220111698 VAR_018771 + P17661:p.Leu385Pro chr2 220111707 220111710 VAR_018772 + P17661:p.Gln389Pro chr2 220111719 220111722 VAR_007902 + P17661:p.Asn393Ile chr2 220111758 220111761 VAR_042458 + P17661:p.Arg406Trp chr2 220115924 220115927 VAR_042459 + P17661:p.Thr442Ile chr2 220115945 220115948 VAR_042460 + P17661:p.Lys449Met chr2 220115945 220115948 VAR_042461 + P17661:p.Lys449Thr chr2 220115951 220115954 VAR_018773 + P17661:p.Ile451Met chr2 220115960 220115963 VAR_042462 + P17661:p.Arg454Trp chr2 220116181 220116184 VAR_042463 + P17661:p.Ser460Ile chr6 7510671 7510674 VAR_015569 + P15924:p.Asn287Lys chr6 7510707 7510710 VAR_015402 + P15924:p.Ser299Arg chr6 7510725 7510728 VAR_033862 + P15924:p.Ile305Phe chr6 7525184 7525187 VAR_023814 + P15924:p.Arg1255Lys chr6 7525955 7525958 VAR_020468 + P15924:p.Tyr1512Cys chr6 7526633 7526636 VAR_023815 + P15924:p.Arg1738Gln chr6 7526744 7526747 VAR_023816 + P15924:p.Arg1775Ile chr6 7529589 7529592 VAR_015570 + P15924:p.Arg2366Cys chr6 7529616 7529619 VAR_018158 + P15924:p.Gly2375Arg chr1 3809400 3809403 VAR_009305 + O76075:p.Arg196Lys chr7 24532055 24532058 VAR_030824 - O60443:p.Pro142Thr chr7 24530188 24530191 VAR_030825 - O60443:p.Val207Met chr11 75187058 75187061 VAR_033864 + Q96PD7:p.Arg317Gly chr11 75189114 75189117 VAR_033865 + Q96PD7:p.Met361Ile chr22 17506614 17506617 VAR_015117 - Q96DF8:p.Ala31Val chr22 17499416 17499419 VAR_015118 - Q96DF8:p.Val336Met chr22 17496424 17496427 VAR_015119 - Q96DF8:p.Ala423Val chr22 17272315 17272318 VAR_033866 + Q14129:p.Ala117Val chr17 52267449 52267452 VAR_036120 + P52429:p.Leu99Arg chr3 187489318 187489321 VAR_020259 - P49619:p.Thr142Ser chr3 187469297 187469300 VAR_020260 - P49619:p.Arg370Trp chr3 187365486 187365489 VAR_036119 - P49619:p.Glu706Lys chr13 41701261 41701264 VAR_033867 + Q86XP1:p.Val1201Ala chr7 136831945 136831948 VAR_010190 - O75912:p.Leu153Phe chr11 61268072 61268075 VAR_027274 + Q9Y4D2:p.Pro889Leu chr2 74085668 74085671 VAR_019417 + Q16854:p.Arg142Lys chr2 74095993 74095996 VAR_019418 + Q16854:p.Glu227Lys chr2 74096967 74096970 VAR_023789 + Q16854:p.Leu250Ser chr11 43833272 43833275 VAR_027277 + Q53GQ0:p.Ser280Leu chr17 37960120 37960123 VAR_006951 + P14061:p.Ala238Val chr16 80659370 80659373 VAR_018852 + P37059:p.Ala121Thr chr9 96143848 96143851 VAR_014870 - P37058:p.Val31Ile chr9 96140285 96140288 VAR_016067 - P37058:p.Ala56Thr chr9 96140258 96140261 VAR_016068 - P37058:p.Ser65Leu chr9 96096741 96096744 VAR_006953 - P37058:p.Arg80Gln chr9 96096741 96096744 VAR_006954 - P37058:p.Arg80Trp chr9 96093317 96093320 VAR_016069 - P37058:p.Asn130Ser chr9 96087259 96087262 VAR_016070 - P37058:p.Gln176Pro chr9 96086228 96086231 VAR_006955 - P37058:p.Ala203Val chr9 96086222 96086225 VAR_016071 - P37058:p.Val205Glu chr9 96086213 96086216 VAR_016072 - P37058:p.Phe208Ile chr9 96086192 96086195 VAR_016203 - P37058:p.Glu215Asp chr9 96082720 96082723 VAR_006956 - P37058:p.Ser232Leu chr9 96082711 96082714 VAR_006957 - P37058:p.Met235Val chr9 96082612 96082615 VAR_016073 - P37058:p.Cys268Tyr chr9 96077383 96077386 VAR_016074 - P37058:p.Pro282Leu chr9 96077362 96077365 VAR_014871 - P37058:p.Gly289Ser chr6 33281285 33281288 VAR_035844 + Q92506:p.Val158Leu chr1 55052825 55052828 VAR_012732 - Q15392:p.Glu191Lys chr1 55043134 55043137 VAR_012733 - Q15392:p.Asn294Thr chr1 55043098 55043101 VAR_012734 - Q15392:p.Lys306Asn chr1 55030064 55030067 VAR_012735 - Q15392:p.Tyr471Ser chr11 70832854 70832857 VAR_012717 - Q9UBM7:p.Pro51Ser chr11 70832803 70832806 VAR_023148 - Q9UBM7:p.Leu68Pro chr11 70832728 70832731 VAR_012718 - Q9UBM7:p.Thr93Met chr11 70832710 70832713 VAR_012719 - Q9UBM7:p.Leu99Pro chr11 70832686 70832689 VAR_023149 - Q9UBM7:p.Gln107His chr11 70831041 70831044 VAR_023150 - Q9UBM7:p.Leu109Pro chr11 70831029 70831032 VAR_023151 - Q9UBM7:p.Ser113Cys chr11 70831011 70831014 VAR_012720 - Q9UBM7:p.His119Leu chr11 70830132 70830134 VAR_023152 - Q9UBM7:p.Gly138Val chr11 70830956 70830957 VAR_023152 - Q9UBM7:p.Gly138Val chr11 70830111 70830114 VAR_023153 - Q9UBM7:p.Ile145Leu chr11 70830105 70830108 VAR_023154 - Q9UBM7:p.Gly147Asp chr11 70830084 70830087 VAR_023155 - Q9UBM7:p.Thr154Met chr11 70830075 70830078 VAR_012721 - Q9UBM7:p.Leu157Pro chr11 70830039 70830042 VAR_023156 - Q9UBM7:p.Ser169Leu chr11 70830000 70830003 VAR_023157 - Q9UBM7:p.Trp182Cys chr11 70830000 70830003 VAR_023158 - Q9UBM7:p.Trp182Leu chr11 70829997 70830000 VAR_023159 - Q9UBM7:p.Cys183Tyr chr11 70829952 70829955 VAR_023160 - Q9UBM7:p.Lys198Glu chr11 70827698 70827701 VAR_023161 - Q9UBM7:p.Phe235Ser chr11 70827677 70827680 VAR_023162 - Q9UBM7:p.Arg242Cys chr11 70827677 70827680 VAR_023163 - Q9UBM7:p.Arg242His chr11 70827671 70827674 VAR_012722 - Q9UBM7:p.Gly244Arg chr11 70827662 70827665 VAR_012723 - Q9UBM7:p.Ala247Val chr11 70827659 70827662 VAR_012724 - Q9UBM7:p.Trp248Cys chr11 70827638 70827641 VAR_023164 - Q9UBM7:p.Phe255Leu chr11 70826625 70826628 VAR_023165 - Q9UBM7:p.Val281Met chr11 70826601 70826604 VAR_012725 - Q9UBM7:p.Thr289Ile chr11 70826577 70826580 VAR_023166 - Q9UBM7:p.Ile297Thr chr11 70826535 70826538 VAR_023167 - Q9UBM7:p.Cys311Gly chr11 70826535 70826538 VAR_023168 - Q9UBM7:p.Cys311Tyr chr11 70824524 70824527 VAR_023169 - Q9UBM7:p.Tyr324His chr11 70824518 70824521 VAR_012726 - Q9UBM7:p.Val326Leu chr11 70824464 70824467 VAR_023170 - Q9UBM7:p.Gly344Arg chr11 70824440 70824443 VAR_023171 - Q9UBM7:p.Arg352Gln chr11 70824440 70824443 VAR_012727 - Q9UBM7:p.Arg352Trp chr11 70824437 70824440 VAR_023172 - Q9UBM7:p.Val353Ala chr11 70824410 70824413 VAR_023173 - Q9UBM7:p.Arg362Cys chr11 70824356 70824359 VAR_023174 - Q9UBM7:p.Cys380Arg chr11 70824356 70824359 VAR_012728 - Q9UBM7:p.Cys380Ser chr11 70824356 70824359 VAR_023175 - Q9UBM7:p.Cys380Tyr chr11 70824305 70824308 VAR_023176 - Q9UBM7:p.Ser397Leu chr11 70824284 70824287 VAR_012729 - Q9UBM7:p.Arg404Cys chr11 70824284 70824287 VAR_023177 - Q9UBM7:p.Arg404Ser chr11 70824281 70824284 VAR_023178 - Q9UBM7:p.His405Tyr chr11 70824272 70824275 VAR_023179 - Q9UBM7:p.Tyr408His chr11 70824266 70824269 VAR_023180 - Q9UBM7:p.Gly410Arg chr11 70824266 70824269 VAR_012730 - Q9UBM7:p.Gly410Ser chr11 70824218 70824221 VAR_023181 - Q9UBM7:p.His426Pro chr11 70824167 70824170 VAR_023182 - Q9UBM7:p.Arg443Cys chr11 70824158 70824161 VAR_023183 - Q9UBM7:p.Arg446Gln chr11 70824152 70824155 VAR_016975 - Q9UBM7:p.Glu448Lys chr11 70824152 70824155 VAR_023184 - Q9UBM7:p.Glu448Gln chr11 70824146 70824149 VAR_023185 - Q9UBM7:p.Arg450Leu chr1 26470768 26470771 VAR_028088 + Q86SQ9:p.Val253Met chr19 54128793 54128796 VAR_038174 + Q9UQ10:p.Ala2Pro chr19 54130173 54130176 VAR_038175 + Q9UQ10:p.Ser66Asn chr19 54134748 54134751 VAR_038176 + Q9UQ10:p.Val200Met chr19 54137627 54137630 VAR_038177 + Q9UQ10:p.Val247Ala chr19 54139524 54139527 VAR_038178 + Q9UQ10:p.Gly282Arg chr10 88812503 88812506 VAR_016760 - P00367:p.Ser270Cys chr10 88812491 88812494 VAR_016761 - P00367:p.Arg274Cys chr10 88810756 88810759 VAR_009270 - P00367:p.Arg318Lys chr10 88810756 88810759 VAR_016762 - P00367:p.Arg318Thr chr10 88810753 88810756 VAR_016763 - P00367:p.Tyr319Cys chr10 88810744 88810747 VAR_016764 - P00367:p.Arg322Cys chr10 88810744 88810747 VAR_016765 - P00367:p.Arg322His chr10 88810663 88810666 VAR_009271 - P00367:p.Glu349Ala chr10 88807427 88807430 VAR_008666 - P00367:p.Ser498Leu chr10 88803138 88803141 VAR_008667 - P00367:p.Gly499Asp chr10 88803138 88803141 VAR_008668 - P00367:p.Gly499Ser chr10 88803132 88803135 VAR_008669 - P00367:p.Ser501Pro chr10 88803114 88803117 VAR_008670 - P00367:p.His507Tyr chr1 206268792 206268795 VAR_035845 + P28845:p.Val148Glu chr16 66027105 66027111 VAR_015634 + P80365:p.114_115del chr16 66027416 66027419 VAR_015635 + P80365:p.Leu179Arg chr16 66027419 66027422 VAR_015636 + P80365:p.Ser180Phe chr16 66027437 66027440 VAR_015637 + P80365:p.Arg186Cys chr16 66027503 66027506 VAR_006958 + P80365:p.Arg208Cys chr16 66027503 66027506 VAR_015638 + P80365:p.Arg208His chr16 66027518 66027521 VAR_006959 + P80365:p.Arg213Cys chr16 66027666 66027669 VAR_015639 + P80365:p.Pro227Leu chr16 66027696 66027699 VAR_015640 + P80365:p.Ala237Val chr16 66027717 66027720 VAR_015641 + P80365:p.Asp244Asn chr16 66027735 66027741 VAR_015643 + P80365:p.Leu250_Leu251delinsProSer chr16 66027735 66027738 VAR_015642 + P80365:p.Leu250Arg chr16 66028023 66028026 VAR_015644 + P80365:p.Arg279Cys chr16 66028170 66028173 VAR_015645 + P80365:p.Ala328Val chr16 66028197 66028203 VAR_015647 + P80365:p.Arg337_Tyr338delinsHis chr16 66028197 66028200 VAR_015646 + P80365:p.Arg337Cys chr17 24252242 24252245 VAR_037348 - Q6UX07:p.Arg191Gln chr17 24249710 24249713 VAR_037349 - Q6UX07:p.Leu336Gln chr1 17116674 17116677 VAR_035063 - P21912:p.Ala29Ala chr1 17116623 17116626 VAR_035064 - P21912:p.Arg46Gly chr1 17104885 17104888 VAR_018517 - P21912:p.Leu87Ser chr1 17100523 17100526 VAR_037620 - P21912:p.Ser100Phe chr1 17100520 17100523 VAR_035065 - P21912:p.Cys101Tyr chr1 17100430 17100433 VAR_018518 - P21912:p.Pro131Arg chr1 17100427 17100430 VAR_037621 - P21912:p.His132Pro chr1 17095839 17095842 VAR_035066 - P21912:p.Cys192Arg chr1 17095827 17095830 VAR_035067 - P21912:p.Cys196Tyr chr1 17095824 17095827 VAR_017868 - P21912:p.Pro197Arg chr1 17094447 17094450 VAR_017869 - P21912:p.Arg242His chr11 111462874 111462877 VAR_017870 + O14521:p.Gly12Ser chr11 111463885 111463888 VAR_017871 + O14521:p.His50Arg chr11 111464871 111464874 VAR_010038 + O14521:p.Pro81Leu chr11 111464904 111464907 VAR_010039 + O14521:p.Asp92Tyr chr11 111464907 111464910 VAR_018519 + O14521:p.93del chr11 111464934 111464937 VAR_010040 + O14521:p.His102Leu chr11 111470763 111470766 VAR_017872 + O14521:p.Tyr114Cys chr11 111470838 111470841 VAR_017873 + O14521:p.Leu139Pro chr10 12171086 12171089 VAR_036716 + Q96HY7:p.Tyr272Asp chr10 12171194 12171197 VAR_036717 + Q96HY7:p.Arg308Leu chr10 12173577 12173580 VAR_036718 + Q96HY7:p.Asn350Asp chr10 12183108 12183111 VAR_036719 + Q96HY7:p.Ile607Met chr5 54614862 54614865 VAR_026985 - Q7Z478:p.Pro630His chr10 127538383 127538386 VAR_035843 - Q7L7V1:p.Pro209Arg chr20 37100594 37100597 VAR_020211 + Q9H5Z1:p.Pro703Leu chr3 155515686 155515689 VAR_027140 - Q9H2U1:p.Glu151Lys chr3 155493106 155493109 VAR_027142 - Q9H2U1:p.Ile583Asn chr2 38999903 38999906 VAR_033861 - Q6P158:p.Ser433Gly chr17 37510687 37510690 VAR_019394 - Q96C10:p.Gln425Arg chr17 37509336 37509339 VAR_019395 - Q96C10:p.Arg523Gln chr2 232705175 232705178 VAR_038059 + Q8IYB7:p.Pro12Ser chr1 84740987 84740990 VAR_020160 - Q01459:p.Asp310Tyr chr20 61013370 61013373 VAR_028310 - Q9BTC0:p.Pro13Leu chr20 61012581 61012584 VAR_028311 - Q9BTC0:p.Pro276Leu chr10 419976 419979 VAR_035906 - Q9Y2E4:p.Gly622Ser chr10 363077 363080 VAR_035907 - Q9Y2E4:p.Val1264Met chr2 189425000 189425003 VAR_022549 - Q969H9:p.Ser51Ala chr1 228069360 228069363 VAR_030422 + Q9NRI5:p.Gly5Val chr1 228137028 228137031 VAR_022437 + Q9NRI5:p.Arg264Gln chr1 228260835 228260838 VAR_026704 + Q9NRI5:p.Leu607Phe chr1 228451332 228451335 VAR_022438 + Q9NRI5:p.Ser704Cys chr3 187784404 187784407 VAR_016092 + Q9UBS4:p.Ile264Val chr10 73766381 73766384 VAR_017864 - Q9NXW2:p.Glu304Lys chr1 6640207 6640210 VAR_027078 - Q9NVH1:p.Val267Met chr1 6640138 6640141 VAR_027079 - Q9NVH1:p.Thr290Ala chr13 42495864 42495867 VAR_027077 + Q9Y5T4:p.Arg35Gly chr5 34973388 34973391 VAR_036163 + Q5F1R6:p.Asp214Asn chrX 153554947 153554950 VAR_010076 + O60832:p.Ala2Val chrX 153557443 153557446 VAR_006811 + O60832:p.Phe36Val chrX 153557446 153557449 VAR_006812 + O60832:p.37del chrX 153557449 153557452 VAR_015674 + O60832:p.Ile38Thr chrX 153557452 153557455 VAR_010077 + O60832:p.Lys39Glu chrX 153557455 153557458 VAR_006813 + O60832:p.Pro40Arg chrX 153557458 153557461 VAR_010078 + O60832:p.Glu41Lys chrX 153557482 153557485 VAR_015675 + O60832:p.Thr49Met chrX 153557906 153557909 VAR_010079 + O60832:p.Arg65Thr chrX 153557909 153557912 VAR_010080 + O60832:p.Thr66Ala chrX 153557927 153557930 VAR_006814 + O60832:p.Leu72Tyr chrX 153558291 153558294 VAR_015676 + O60832:p.Ser121Gly chrX 153560306 153560309 VAR_022553 + O60832:p.Gly223Asp chrX 153562782 153562785 VAR_010081 + O60832:p.Leu321Val chrX 153565120 153565123 VAR_010082 + O60832:p.Met350Ile chrX 153565120 153565123 VAR_010083 + O60832:p.Met350Thr chrX 153565129 153565132 VAR_009264 + O60832:p.Ala353Val chrX 153566628 153566631 VAR_006815 + O60832:p.Gly402Glu chrX 153566628 153566631 VAR_010084 + O60832:p.Gly402Arg chr4 108203396 108203399 VAR_021966 - Q9UBU2:p.Arg146Gln chr19 54559724 54559727 VAR_024432 + Q9UK85:p.Ala29Thr chr19 54560861 54560864 VAR_021967 + Q9UK85:p.Met109Arg chr19 54570007 54570010 VAR_021968 + Q9UK85:p.Glu214Lys chr3 38079252 38079255 VAR_035908 + Q9Y238:p.Pro351Arg chr10 79286609 79286612 VAR_027897 - Q8TDM6:p.Gln140Arg chr10 79240877 79240880 VAR_027898 - Q8TDM6:p.Pro1481Gln chr10 79236688 79236691 VAR_027899 - Q8TDM6:p.Ala1600Val chr19 44685536 44685537 VAR_016776 + Q9NYJ7:p.Leu218Pro chr19 44686550 44686552 VAR_016776 + Q9NYJ7:p.Leu218Pro chr19 44689577 44689580 VAR_009952 + Q9NYJ7:p.Gly385Asp chr2 172776980 172776983 VAR_028443 + P56177:p.Ser136Cys chr7 96294866 96294869 VAR_033874 - P56178:p.Ser234Arg chr10 124319699 124319702 VAR_024788 + Q9UGM3:p.Pro42Thr chr10 124320409 124320412 VAR_024789 + Q9UGM3:p.Ser52Trp chr10 124320415 124320418 VAR_024790 + Q9UGM3:p.Ser54Leu chr10 124320433 124320436 VAR_024791 + Q9UGM3:p.Val60Ala chr10 124321824 124321827 VAR_024792 + Q9UGM3:p.Pro65Leu chr10 124330376 124330379 VAR_024793 + Q9UGM3:p.Gln337Leu chr10 124332107 124332110 VAR_024794 + Q9UGM3:p.Pro357Ser chr10 124332128 124332131 VAR_024795 + Q9UGM3:p.Arg364Gly chr10 124332296 124332299 VAR_024796 + Q9UGM3:p.Gln420His chr10 124338484 124338487 VAR_024797 + Q9UGM3:p.Gly607Val chr10 124338610 124338613 VAR_024798 + Q9UGM3:p.Thr649Met chr10 124338631 124338634 VAR_024799 + Q9UGM3:p.Arg656Trp chr10 124341938 124341941 VAR_024800 + Q9UGM3:p.Thr780Met chr10 124344810 124344813 VAR_024801 + Q9UGM3:p.Pro856Ser chr10 124348572 124348575 VAR_024802 + Q9UGM3:p.His1084Tyr chr10 124351463 124351466 VAR_024803 + Q9UGM3:p.Met1169Thr chr10 124351484 124351487 VAR_024804 + Q9UGM3:p.Arg1176Trp chr10 124367650 124367653 VAR_024805 + Q9UGM3:p.Val1545Met chr10 124370858 124370861 VAR_024806 + Q9UGM3:p.His1732Ser chr10 124380708 124380711 VAR_024807 + Q9UGM3:p.Thr1961Pro chr22 37259103 37259106 VAR_018960 - Q14565:p.Met200Val chrX 32797951 32797954 VAR_023537 - P11532:p.Lys18Asn chrX 32627501 32627594 VAR_005146 - P11532:p.32_62del chrX 32627525 32627528 VAR_005147 - P11532:p.Leu54Arg chrX 32594372 32594375 VAR_005148 - P11532:p.Gln133Pro chrX 32594276 32594279 VAR_023538 - P11532:p.Asp165Val chrX 32594267 32594270 VAR_005149 - P11532:p.Ala168Asp chrX 32594258 32594261 VAR_023539 - P11532:p.Ala171Pro chrX 32477023 32477026 VAR_005150 - P11532:p.Tyr231Asn chrX 32475766 32475769 VAR_023540 - P11532:p.Thr279Ala chrX 32422884 32422887 VAR_036353 - P11532:p.Leu334Phe chrX 32422791 32422794 VAR_005151 - P11532:p.Gln365His chrX 32373530 32373650 VAR_005152 - P11532:p.495_534del chrX 32343598 32343601 VAR_005153 - P11532:p.Leu623Ile chrX 32343532 32343535 VAR_023541 - P11532:p.Asp645Gly chrX 32279589 32279592 VAR_005154 - P11532:p.Lys773Glu chrX 32279556 32279559 VAR_005155 - P11532:p.Ala784Gly chrX 32232447 32232450 VAR_005157 - P11532:p.Val1197Phe chrX 32226358 32226361 VAR_036354 - P11532:p.Glu1219Gln chrX 32226280 32226283 VAR_005158 - P11532:p.Thr1245Ile chrX 32219040 32219043 VAR_005159 - P11532:p.Ala1278Pro chrX 32189627 32189630 VAR_005160 - P11532:p.Lys1377Asn chrX 32167385 32167388 VAR_005161 - P11532:p.Gln1469Leu chrX 32167382 32167385 VAR_036355 - P11532:p.Arg1470His chrX 32142802 32142805 VAR_023542 - P11532:p.Asn1672Lys chrX 32140651 32140654 VAR_005162 - P11532:p.Arg1745His chrX 32123770 32123773 VAR_005163 - P11532:p.Arg1844Ser chrX 31746261 31746264 VAR_005164 - P11532:p.Arg2155Trp chrX 31746234 31746237 VAR_036356 - P11532:p.Ala2164Val chrX 31746153 31746156 VAR_005165 - P11532:p.Arg2191Trp chrX 31707384 31707387 VAR_023543 - P11532:p.Asn2299Thr chrX 31652961 31653147 VAR_005166 - P11532:p.2305_2366del chrX 31652961 31652964 VAR_005167 - P11532:p.Lys2366Gln chrX 31256086 31256089 VAR_005168 - P11532:p.Glu2910Val chrX 31256080 31256083 VAR_005169 - P11532:p.Asn2912Asp chrX 31256053 31256056 VAR_005170 - P11532:p.His2921Arg chrX 30981857 30981860 VAR_023544 - P11532:p.Phe3228Leu chrX 30960546 30960549 VAR_023545 - P11532:p.Cys3313Phe chrX 30958224 30958227 VAR_023546 - P11532:p.Asp3335His chrX 30958209 30958212 VAR_023547 - P11532:p.Cys3340Tyr chr4 88940313 88940316 VAR_030750 + Q13316:p.Ser69Cys chr4 88940457 88940460 VAR_030751 + Q13316:p.Asp117Asn chr4 88940922 88940925 VAR_030752 + Q13316:p.Arg272His chr4 88941495 88941498 VAR_033848 + Q13316:p.Lys463Arg chr9 831970 831973 VAR_009954 + Q9Y5R6:p.Ser45Thr chr9 884033 884036 VAR_009955 + Q9Y5R6:p.Tyr221Ser chr9 906780 906783 VAR_009956 + Q9Y5R6:p.Arg281Ser chr9 906822 906825 VAR_009957 + Q9Y5R6:p.Pro295Leu chr9 980075 980078 VAR_030591 + Q9NQL9:p.Ala164Thr chr9 980366 980369 VAR_030592 + Q9NQL9:p.Asn261Thr chr9 980651 980654 VAR_030593 + Q9NQL9:p.Gly356Val chr9 22441418 22441421 VAR_036331 + Q5VZB9:p.Arg342Cys chr9 34449024 34449027 VAR_016774 + Q9UI46:p.Ala8Ser chr9 34475235 34475238 VAR_033876 + Q9UI46:p.Ala60Val chr9 34490793 34490796 VAR_033877 + Q9UI46:p.Gln326His chr9 34490820 34490823 VAR_033878 + Q9UI46:p.Val335Ile chr9 34502391 34502394 VAR_033879 + Q9UI46:p.Val487Gly chr9 34503162 34503165 VAR_016775 + Q9UI46:p.Gly515Ser chr16 3645378 3645381 VAR_024434 + P24855:p.Arg2Ser chr16 3645465 3645468 VAR_002264 + P24855:p.Gln31Glu chr16 3646185 3646187 VAR_029172 + P24855:p.Arg107Gly chr16 3646639 3646640 VAR_029172 + P24855:p.Arg107Gly chr16 3646658 3646661 VAR_009300 + P24855:p.Val114Met chr16 3646697 3646700 VAR_024435 + P24855:p.Gly127Arg chr16 3647023 3647026 VAR_002265 + P24855:p.Pro154Ala chr16 3647257 3647260 VAR_009301 + P24855:p.Arg207Cys chr16 3647329 3647332 VAR_029173 + P24855:p.Cys231Tyr chr16 3647746 3647749 VAR_002266 + P24855:p.Arg244Gln chr16 3647752 3647755 VAR_029174 + P24855:p.Ala246Pro chr16 3647800 3647803 VAR_029175 + P24855:p.Gly262Asp chr17 70785939 70785942 VAR_014103 - Q9HC21:p.Gly177Ala chr2 230137723 230137726 VAR_028380 - Q8NFT8:p.Pro433Leu chr11 6544802 6544805 VAR_037388 + Q96M86:p.Arg98His chr11 6549525 6549528 VAR_037389 + Q96M86:p.Ile934Thr chr2 27411256 27411259 VAR_033882 + Q8N7S2:p.Val4Gly chr2 27412309 27412312 VAR_033883 + Q8N7S2:p.His51Arg chr22 39582375 39582378 VAR_017779 - Q7Z6W7:p.Glu41Ala chr3 129664327 129664330 VAR_033881 - Q8NHS0:p.Met153Leu chr19 53357365 53357368 VAR_018802 - P18858:p.Ala24Val chr19 53356527 53356530 VAR_020194 - P18858:p.Pro52Leu chr19 53356497 53356500 VAR_018803 - P18858:p.Arg62Trp chr19 53356467 53356470 VAR_020195 - P18858:p.Asp72Gly chr19 53348950 53348953 VAR_036511 - P18858:p.Lys152Glu chr19 53344860 53344863 VAR_016766 - P18858:p.Gly249Glu chr19 53339007 53339010 VAR_016767 - P18858:p.Asn267Ser chr19 53335079 53335082 VAR_018804 - P18858:p.Val349Met chr19 53332737 53332740 VAR_018805 - P18858:p.Val369Ile chr19 53332617 53332620 VAR_016768 - P18858:p.Arg409His chr19 53330831 53330834 VAR_016769 - P18858:p.Met480Val chr19 53328077 53328080 VAR_002262 - P18858:p.Glu566Lys chr19 53323074 53323077 VAR_036512 - P18858:p.Ser612Leu chr19 53323068 53323071 VAR_016770 - P18858:p.Thr614Ile chr19 53318360 53318363 VAR_018806 - P18858:p.Arg677Leu chr19 53316310 53316313 VAR_002263 - P18858:p.Arg771Trp chr17 30353819 30353822 VAR_020197 + P49916:p.Pro899Ser chr13 107661608 107661611 VAR_029352 - P49917:p.Ala3Val chr13 107661590 107661593 VAR_033884 - P49917:p.Thr9Ile chr13 107661431 107661434 VAR_029353 - P49917:p.Asp62His chr13 107660924 107660927 VAR_018808 - P49917:p.Pro231Ser chr13 107660783 107660786 VAR_012774 - P49917:p.Arg278His chr13 107660210 107660213 VAR_012775 - P49917:p.Gly469Glu chr13 107660000 107660003 VAR_016771 - P49917:p.Leu539Phe chr13 107659643 107659646 VAR_016772 - P49917:p.Ile658Val chr13 107659046 107659049 VAR_016773 - P49917:p.Ala857Thr chr12 32745723 32745726 VAR_022446 + O00429:p.Ser71Thr chr12 32775631 32775634 VAR_030489 + O00429:p.Glu426Asp chr20 30832836 30832839 VAR_033885 + Q9UBC3:p.Arg54Pro chr20 30840473 30840476 VAR_022579 + Q9UBC3:p.Ser270Pro chr20 30850788 30850791 VAR_011506 + Q9UBC3:p.Ala585Val chr20 30851666 30851669 VAR_011499 + Q9UBC3:p.Ala603Thr chr20 30851675 30851678 VAR_011507 + Q9UBC3:p.Val606Ala chr20 30852382 30852385 VAR_011500 + Q9UBC3:p.Gly663Ser chr20 30852385 30852388 VAR_022580 + Q9UBC3:p.Leu664Pro chr20 30852842 30852845 VAR_011508 + Q9UBC3:p.Val699Gly chr20 30853881 30853884 VAR_011501 + Q9UBC3:p.Val726Gly chr20 30856868 30856871 VAR_011509 + Q9UBC3:p.Ala766Pro chr20 30857789 30857792 VAR_011502 + Q9UBC3:p.Glu806Glu chr20 30859247 30859250 VAR_011510 + Q9UBC3:p.His814Arg chr20 30859256 30859259 VAR_011503 + Q9UBC3:p.Asp817Gly chr20 30859259 30859262 VAR_011504 + Q9UBC3:p.Val818Met chr20 30859325 30859328 VAR_022581 + Q9UBC3:p.Arg840Gln chr10 101629866 101629869 VAR_024339 - Q6XZF7:p.Cys1413Trp chr19 10152179 10152182 VAR_024605 - P26358:p.His97Arg chr19 12847944 12847947 VAR_012044 - O00115:p.Arg314Leu chr3 58171616 58171619 VAR_036079 - Q13609:p.Leu19Val chr3 58166311 58166314 VAR_036080 - Q13609:p.Gly82Arg chr3 58165617 58165620 VAR_036081 - Q13609:p.Tyr117Ser chrX 117530578 117530581 VAR_034854 + Q5JSL3:p.Ile813Phe chr16 29928900 29928903 VAR_019656 - Q14183:p.Gly48Ser chr5 169439813 169439816 VAR_015822 + Q92608:p.Ser1746Thr chr5 169441470 169441473 VAR_022137 + Q92608:p.Thr1779Ser chr8 25212517 25212520 VAR_033886 + Q9H7D0:p.Gln250Arg chr8 25323632 25323635 VAR_033887 + Q9H7D0:p.Glu1836Lys chr19 11219797 11219800 VAR_029830 - Q96HP0:p.Pro250Leu chr19 11209958 11209961 VAR_029831 - Q96HP0:p.Pro555Leu chr19 11186028 11186031 VAR_029833 - Q96HP0:p.Val1420Leu chr4 3515177 3515180 VAR_031246 + Q18PE1:p.Arg158Gln chr4 3524239 3524242 VAR_027544 + Q18PE1:p.Gly180Ala chr4 3524290 3524293 VAR_027545 + Q18PE1:p.Asp197Asn chr4 3531462 3531465 VAR_027546 + Q18PE1:p.Arg261His chr4 3531567 3531570 VAR_027547 + Q18PE1:p.Gln296Arg chr4 3531924 3531927 VAR_027548 + Q18PE1:p.Pro415Ser chr4 3531960 3531963 VAR_027549 + Q18PE1:p.Gly427Asp chr4 3532032 3532035 VAR_027550 + Q18PE1:p.Arg451Trp chr4 3532062 3532065 VAR_027551 + Q18PE1:p.Gly461Asp chr6 32047347 32047350 VAR_027492 - O77932:p.Ser28Thr chr6 32047242 32047245 VAR_027493 - O77932:p.Asp63Glu chr6 32046390 32046393 VAR_027494 - O77932:p.His261Gln chr6 32045911 32045914 VAR_027495 - O77932:p.Ala332Val chr21 36534116 36534119 VAR_034688 + Q9Y3R5:p.Ser1021Trp chr21 36539592 36539595 VAR_027940 + Q9Y3R5:p.Pro1149His chr21 36539796 36539799 VAR_027941 + Q9Y3R5:p.Arg1217Ser chr21 36583273 36583276 VAR_027942 + Q9Y3R5:p.Gly2139Glu chr9 133531347 133531350 VAR_022758 + P09172:p.Val101Met chr9 133534521 133534524 VAR_022759 + P09172:p.Asp114Glu chr9 133536936 133536939 VAR_014706 + P09172:p.Glu181Gln chr9 133537026 133537029 VAR_013947 + P09172:p.Ala211Thr chr9 133537110 133537113 VAR_014707 + P09172:p.Lys239Asn chr9 133538091 133538094 VAR_014708 + P09172:p.Glu250Gln chr9 133538211 133538214 VAR_014709 + P09172:p.Asp290Asn chr9 133538920 133538923 VAR_014710 + P09172:p.Leu317Pro chr9 133538923 133538926 VAR_002196 + P09172:p.Ala318Ser chr9 133542529 133542532 VAR_022760 + P09172:p.Asp345Asn chr9 133551827 133551830 VAR_013948 + P09172:p.Arg549Cys chr15 43198688 43198691 VAR_029630 - Q1HG43:p.Ser313Gly chr3 57277498 57277501 VAR_035909 + Q9UKG1:p.Glu643Gln chr12 104086342 104086345 VAR_021505 - Q8NEU8:p.Ala433Val chr15 43635212 43635215 VAR_022865 + Q86SG4:p.Cys91Arg chr16 88231256 88231259 VAR_036496 + P16444:p.Arg246His chr16 66578966 66578969 VAR_033894 - Q9H4A9:p.His468Asp chr20 48998591 48998594 VAR_012341 - O60762:p.Arg92Gly chr20 48985114 48985117 VAR_019841 - O60762:p.Ser248Pro chr9 127777581 127777584 VAR_033895 - O94777:p.Thr76Ser chr11 64821265 64821268 VAR_033896 + Q14181:p.Gly583Arg chr11 64821280 64821283 VAR_033897 + Q14181:p.Ser588Asn chr19 55593974 55593977 VAR_019340 + P28340:p.Arg19His chr19 55594007 55594010 VAR_016146 + P28340:p.Arg30Trp chr19 55596884 55596887 VAR_019341 + P28340:p.Arg119His chr19 55597120 55597123 VAR_019342 + P28340:p.Ser173Asn chr19 55597132 55597135 VAR_019343 + P28340:p.Arg177His chr19 55610039 55610042 VAR_019344 + P28340:p.Arg849His chr19 55612947 55612950 VAR_019345 + P28340:p.Arg1086Gln chr7 43929063 43929066 VAR_014885 - P49005:p.Asn303Ser chr11 66877104 66877107 VAR_022269 - Q9HCU8:p.Arg39Pro chr12 131867146 131867149 VAR_028429 - Q07864:p.Pro99Leu chr12 131864343 131864346 VAR_020276 - Q07864:p.Ala252Val chr12 131864319 131864322 VAR_028430 - Q07864:p.Arg260Gln chr12 131863041 131863044 VAR_020277 - Q07864:p.Asn336Ser chr12 131855379 131855382 VAR_020278 - Q07864:p.Phe695Ile chr12 131835867 131835870 VAR_028431 - Q07864:p.Arg1382Cys chr12 131830877 131830880 VAR_020279 - Q07864:p.Tyr1395Cys chr12 131830874 131830877 VAR_020280 - Q07864:p.Asn1396Ser chr12 131830865 131830868 VAR_020281 - Q07864:p.Glu1399Gln chr12 131829662 131829665 VAR_028432 - Q07864:p.Glu1577Ala chr12 131829149 131829152 VAR_028433 - Q07864:p.Ala1712Val chr12 131825056 131825059 VAR_028434 - Q07864:p.Lys1857Arg chr12 131822833 131822836 VAR_028435 - Q07864:p.Cys1935Tyr chr12 131819615 131819618 VAR_020282 - Q07864:p.Ala2040Val chr12 131813088 131813091 VAR_020283 - Q07864:p.Arg2165His chr9 113251465 113251468 VAR_023464 - Q9NRF9:p.Thr83Ala chr9 113250683 113250686 VAR_023465 - Q9NRF9:p.Glu135Asp chr2 75097509 75097512 VAR_028050 + Q9NR33:p.Gly17Val chr15 87677980 87677983 VAR_012153 - P54098:p.Arg3Pro chr15 87677935 87677938 VAR_014904 - P54098:p.Pro18Ser chr15 87677824 87677827 VAR_019265 - P54098:p.Gln55Gln chr15 87677824 87677827 VAR_019266 - P54098:p.Gln55Gln chr15 87677410 87677413 VAR_019267 - P54098:p.Arg193Gln chr15 87674489 87674492 VAR_023663 - P54098:p.Arg227Trp chr15 87674417 87674420 VAR_023664 - P54098:p.Thr251Ile chr15 87673288 87673291 VAR_012154 - P54098:p.Leu304Arg chr15 87673273 87673276 VAR_023665 - P54098:p.Arg309Leu chr15 87673264 87673267 VAR_023666 - P54098:p.Trp312Arg chr15 87673228 87673231 VAR_014905 - P54098:p.Pro324Ser chr15 87671541 87671544 VAR_023667 - P54098:p.Gly431Val chr15 87671433 87671436 VAR_012155 - P54098:p.Ala467Thr chr15 87671430 87671433 VAR_023668 - P54098:p.Asn468Asp chr15 87671240 87671243 VAR_023669 - P54098:p.Gln497His chr15 87670920 87670923 VAR_014906 - P54098:p.Arg546Cys chr15 87669896 87669899 VAR_023670 - P54098:p.Arg579Trp chr15 87669872 87669875 VAR_023671 - P54098:p.Pro587Leu chr15 87669752 87669755 VAR_023672 - P54098:p.Arg627Trp chr15 87668425 87668428 VAR_014907 - P54098:p.Glu662Lys chr15 87667659 87667662 VAR_023673 - P54098:p.Trp748Ser chr15 87666075 87666078 VAR_023674 - P54098:p.Tyr831Cys chr15 87666024 87666027 VAR_023675 - P54098:p.Gly848Ser chr15 87665976 87665979 VAR_023676 - P54098:p.Asn864Ser chr15 87665426 87665429 VAR_023677 - P54098:p.Ala889Thr chr15 87665212 87665215 VAR_023678 - P54098:p.Gly923Asp chr15 87665185 87665188 VAR_023679 - P54098:p.His932Tyr chr15 87665152 87665155 VAR_023680 - P54098:p.Arg943His chr15 87665122 87665125 VAR_023681 - P54098:p.Arg953Cys chr15 87665116 87665119 VAR_012156 - P54098:p.Tyr955Cys chr15 87665110 87665113 VAR_023682 - P54098:p.Ala957Ser chr15 87663297 87663300 VAR_023683 - P54098:p.Arg1047Gln chr15 87663285 87663288 VAR_023684 - P54098:p.Gly1051Arg chr15 87663210 87663213 VAR_023685 - P54098:p.Gly1076Val chr15 87662969 87662972 VAR_023686 - P54098:p.Arg1096Cys chr15 87662945 87662948 VAR_023687 - P54098:p.Ser1104Cys chr15 87662942 87662945 VAR_023688 - P54098:p.Ala1105Thr chr15 87662939 87662942 VAR_023689 - P54098:p.Val1106Ile chr15 87662831 87662834 VAR_014908 - P54098:p.Arg1142Trp chr15 87662828 87662831 VAR_014909 - P54098:p.Glu1143Gly chr15 87662819 87662822 VAR_014910 - P54098:p.Arg1146Cys chr15 87661725 87661728 VAR_023690 - P54098:p.Ser1176Leu chr15 87660997 87661000 VAR_014911 - P54098:p.Gln1236His chr17 59923041 59923044 VAR_032028 - Q9UHN1:p.Ala169Thr chr17 59906911 59906914 VAR_032029 - Q9UHN1:p.Gly416Ala chr17 59904506 59904509 VAR_029364 - Q9UHN1:p.Gly451Glu chr8 42345960 42345963 VAR_018881 + P06746:p.Pro242Arg chr10 103334576 103334579 VAR_020268 - Q9UGP5:p.Thr221Pro chr10 103330043 103330046 VAR_020269 - Q9UGP5:p.Arg438Trp chr7 43893622 43893625 VAR_022287 - Q9NP87:p.Glu107Asp chr7 43891632 43891635 VAR_022288 - Q9NP87:p.Gly220Ala chr7 43889444 43889447 VAR_022289 - Q9NP87:p.Val246Phe chr7 43886162 43886165 VAR_022290 - Q9NP87:p.Leu484Phe chr4 2177295 2177298 VAR_025647 - Q7Z5Q5:p.Gln121His chr4 2177055 2177058 VAR_025648 - Q7Z5Q5:p.Arg201Gly chr4 2162252 2162255 VAR_025649 - Q7Z5Q5:p.Met310Leu chr4 2162237 2162240 VAR_025650 - Q7Z5Q5:p.Pro315Ser chr4 2162174 2162177 VAR_025651 - Q7Z5Q5:p.Gly336Ser chr4 2143682 2143685 VAR_025652 - Q7Z5Q5:p.Arg425Cys chr4 2139684 2139687 VAR_025653 - Q7Z5Q5:p.Ser502Gly chr4 2054634 2054637 VAR_025654 - Q7Z5Q5:p.Phe711Leu chr11 66006472 66006475 VAR_033494 + Q9NY33:p.Arg76His chr11 66010658 66010661 VAR_033495 + Q9NY33:p.Gln145His chr11 66028811 66028814 VAR_021850 + Q9NY33:p.Arg678His chr3 110510565 110510568 VAR_028087 - Q7Z7J5:p.Arg131Gln chr12 7759113 7759116 VAR_030533 + Q6W0C5:p.Glu51Gln chr10 27064409 27064412 VAR_034879 + Q5T2R2:p.Asp308Glu chr4 5948365 5948368 VAR_037745 - Q14194:p.Val461Ile chr8 26537613 26537616 VAR_022016 + Q16555:p.Ala118Thr chr8 26565848 26565851 VAR_036316 + Q16555:p.Arg481Cys chr5 146757556 146757559 VAR_020485 - Q14195:p.Ala442Ser chr8 105548120 105548123 VAR_002267 - Q14117:p.Thr68Arg chr8 105509473 105509476 VAR_002268 - Q14117:p.Gln334Arg chr8 105509395 105509398 VAR_002269 - Q14117:p.Trp360Arg chr8 105474325 105474328 VAR_002270 - Q14117:p.Gly435Arg chr8 105462691 105462694 VAR_002271 - Q14117:p.Arg490Thr chr5 174802597 174802600 VAR_014670 - P21728:p.Thr37Pro chr5 174802597 174802600 VAR_014671 - P21728:p.Thr37Arg chr5 174802558 174802561 VAR_014672 - P21728:p.Arg50Ser chr5 174802111 174802114 VAR_014673 - P21728:p.Ser199Ala chr11 112792864 112792867 VAR_017143 - P14416:p.Val154Ile chr11 112788695 112788698 VAR_014674 - P14416:p.Pro310Ser chr11 112788692 112788695 VAR_003462 - P14416:p.Ser311Cys chr4 9460105 9460108 VAR_029210 + P21918:p.Cys62Ser chr4 9460183 9460186 VAR_011837 + P21918:p.Leu88Arg chr4 9460249 9460252 VAR_029211 + P21918:p.Gly110Glu chr4 9460540 9460543 VAR_029212 + P21918:p.Phe207Val chr4 9460618 9460621 VAR_029213 + P21918:p.Ser233Asn chr4 9460633 9460636 VAR_024254 + P21918:p.Val238Ile chr4 9460660 9460663 VAR_029214 + P21918:p.Arg247His chr4 9460726 9460729 VAR_003458 + P21918:p.Ala269Val chr4 9460777 9460780 VAR_029215 + P21918:p.Ala286Val chr4 9460909 9460912 VAR_003459 + P21918:p.Pro330Gln chr4 9460972 9460975 VAR_003460 + P21918:p.Asn351Asp chr4 9461278 9461281 VAR_003461 + P21918:p.Ser453Cys chrX 100297077 100297080 VAR_033898 + Q13474:p.Val65Leu chr18 26935899 26935902 VAR_029480 - Q02487:p.Asn11Ser chr18 26903037 26903040 VAR_024388 - Q02487:p.Ile776Val chr21 40647499 40647502 VAR_020080 - O60469:p.Asp232Glu chr21 37515329 37515332 VAR_033849 + P59020:p.Gly23Val chr21 37515488 37515491 VAR_024340 + P59020:p.Arg76Leu chr6 116827178 116827181 VAR_034481 + Q9UL01:p.Thr25Ile chr18 27173775 27173778 VAR_024385 + Q02413:p.Asn493Thr chr18 27173790 27173793 VAR_024386 + Q02413:p.Thr498Asn chr18 27188677 27188680 VAR_020364 + Q02413:p.Tyr841Phe chr18 27222834 27226301 VAR_021291 + Q86SJ6:p.125_335del chr18 27237561 27237564 VAR_033700 + Q86SJ6:p.Ile535Thr chr18 27240330 27240333 VAR_024387 + Q86SJ6:p.Ile644Leu chr4 88889254 88889257 VAR_036861 + Q9NZW4:p.Tyr6Asp chr4 88889281 88889284 VAR_036862 + Q9NZW4:p.Ala15Val chr4 88889287 88889290 VAR_012280 + Q9NZW4:p.Pro17Thr chr4 88890435 88890438 VAR_012281 + Q9NZW4:p.Val18Phe chr4 88890718 88890721 VAR_030661 + Q9NZW4:p.Arg68Trp chr7 95983675 95983678 VAR_012003 - P60896:p.Asp17Gly chr6 15631424 15631427 VAR_029644 - Q96EV8:p.Pro272Ser chr14 30996332 30996335 VAR_028802 - Q96FN9:p.Arg6Trp chr18 30628210 30628212 VAR_026744 + Q9Y4J8:p.Pro121Leu chr18 30640180 30640181 VAR_026744 + Q9Y4J8:p.Pro121Leu chr15 47704680 47704683 VAR_036757 + Q8N5C7:p.Leu9Pro chr15 47704692 47704695 VAR_036758 + Q8N5C7:p.Glu13Lys chr15 47704728 47704731 VAR_036759 + Q8N5C7:p.Ser25Pro chr7 75756486 75756489 VAR_016920 + Q86UW9:p.Ala94Thr chr7 75771444 75771445 VAR_016921 + Q86UW9:p.Gly384Glu chr7 75774408 75774410 VAR_016921 + Q86UW9:p.Gly384Glu chr7 75776295 75776298 VAR_016922 + Q86UW9:p.Thr421Ala chr3 123770250 123770253 VAR_036098 + Q8TDB6:p.Lys209Asn chr1 155988425 155988428 VAR_003480 + Q16570:p.Gly42Asp chr1 155988566 155988569 VAR_015068 + Q16570:p.Arg89Cys chr1 155988599 155988602 VAR_015069 + Q16570:p.Ala100Thr chr15 43231424 43231427 VAR_025321 + Q9NRD9:p.Cys1026Arg chr15 43233447 43233450 VAR_025322 + Q9NRD9:p.Leu1178Phe chr15 43192528 43192531 VAR_025323 - Q9NRD8:p.Gln36His chr15 43191356 43191359 VAR_025324 - Q9NRD8:p.Pro138Leu chr15 43189382 43189385 VAR_025325 - Q9NRD8:p.Arg376Trp chr10 76473570 76473573 VAR_033376 - Q68J44:p.Ser137Arg chr1 158451399 158451402 VAR_033899 + Q9UNI6:p.Ala51Glu chr5 172130393 172130396 VAR_025201 - P28562:p.Ala56Thr chr5 172129355 172129358 VAR_025202 - P28562:p.Tyr187His chr6 293193 293196 VAR_026912 + Q9NRW4:p.Arg119His chr1 156565138 156565141 VAR_023199 + Q9BVJ7:p.Gly131Ser chr1 163826818 163826821 VAR_034964 + Q5VZP5:p.Glu265Asp chr1 163827421 163827424 VAR_034965 + Q5VZP5:p.Arg466His chr1 163827538 163827541 VAR_034966 + Q5VZP5:p.Ala505Thr chr1 163828588 163828591 VAR_034967 + Q5VZP5:p.Lys855Gln chr1 163829395 163829398 VAR_034968 + Q5VZP5:p.Thr1124Asn chr19 5740562 5740565 VAR_027092 - Q96G46:p.Arg185Gly chr19 5736446 5736449 VAR_027093 - Q96G46:p.Asp609Asn chr7 106810969 106810972 VAR_027094 + O95620:p.Arg230Gln chr12 88247942 88247945 VAR_015113 - Q16828:p.Val114Leu chr3 185365648 185365651 VAR_036116 + Q92997:p.Arg216Thr chr3 185368167 185368170 VAR_025519 + Q92997:p.Trp433Leu chr3 57503541 57503544 VAR_034829 - Q6ZTR8:p.Val32Ala chr3 57471608 57471611 VAR_034830 - Q6ZTR8:p.Ser139Asn chr3 57469177 57469180 VAR_034831 - Q6ZTR8:p.Asp224Glu chr3 57469156 57469159 VAR_034832 - Q6ZTR8:p.Thr231Ala chr5 13997511 13997514 VAR_019603 - Q8TE73:p.His12Gln chr5 13984338 13984341 VAR_019604 - Q8TE73:p.Gly24Glu chr5 13955217 13955220 VAR_019605 - Q8TE73:p.Thr558Ala chr5 13947891 13947894 VAR_027903 - Q8TE73:p.Ile766Leu chr5 13936168 13936171 VAR_027904 - Q8TE73:p.Ser1006Gly chr5 13935855 13935858 VAR_027905 - Q8TE73:p.Met1081Val chr5 13898068 13898071 VAR_030705 - Q8TE73:p.Arg1716Leu chr5 13873503 13873506 VAR_030706 - Q8TE73:p.Ser2264Asn chr5 13867902 13867905 VAR_030707 - Q8TE73:p.Glu2347Lys chr5 13864773 13864776 VAR_019606 - Q8TE73:p.Gln2463Arg chr5 13863273 13863276 VAR_030708 - Q8TE73:p.Arg2501Pro chr5 13841942 13841945 VAR_030709 - Q8TE73:p.Phe2843Ser chr5 13841885 13841888 VAR_019607 - Q8TE73:p.Leu2862Phe chr5 13815884 13815887 VAR_030710 - Q8TE73:p.Trp3409Ser chr5 13806656 13806658 VAR_019608 - Q8TE73:p.Gly3519Arg chr5 13807311 13807312 VAR_019608 - Q8TE73:p.Gly3519Arg chr5 13790442 13790445 VAR_027906 - Q8TE73:p.Thr3791Ile chr5 13788967 13788970 VAR_030711 - Q8TE73:p.Ser3843Leu chr5 13772087 13772090 VAR_019609 - Q8TE73:p.Ala4134Val chr5 13770513 13770516 VAR_030712 - Q8TE73:p.Gly4205Val chr5 13770468 13770471 VAR_019610 - Q8TE73:p.Thr4220Ala chr5 13754533 13754536 VAR_019611 - Q8TE73:p.Ile4450Val chr2 196717149 196717152 VAR_038580 - Q8WXX0:p.His169Pro chr2 196709428 196709431 VAR_038581 - Q8WXX0:p.Ala280Thr chr2 196703060 196703063 VAR_038582 - Q8WXX0:p.Ile315Val chr2 196690972 196690975 VAR_038583 - Q8WXX0:p.Ser438Asn chr2 196677414 196677417 VAR_038584 - Q8WXX0:p.Arg545Cys chr2 196677354 196677357 VAR_038585 - Q8WXX0:p.Asp565His chr2 196662504 196662507 VAR_038586 - Q8WXX0:p.Lys675Glu chr2 196650905 196650908 VAR_038587 - Q8WXX0:p.Lys825Glu chr2 196596957 196596960 VAR_038588 - Q8WXX0:p.Pro1422Thr chr2 196587968 196587971 VAR_038589 - Q8WXX0:p.Glu1525Lys chr2 196574919 196574922 VAR_038590 - Q8WXX0:p.Arg1886Gln chr2 196572165 196572168 VAR_038591 - Q8WXX0:p.Pro1940Leu chr2 196572072 196572075 VAR_038592 - Q8WXX0:p.Pro1971Leu chr2 196566830 196566833 VAR_038593 - Q8WXX0:p.Met2020Thr chr2 196554507 196554510 VAR_038594 - Q8WXX0:p.Asn2459Lys chr2 196551975 196551978 VAR_038595 - Q8WXX0:p.Thr2569Ile chr2 196546208 196546211 VAR_038596 - Q8WXX0:p.Ile2809Val chr2 196496987 196496990 VAR_038598 - Q8WXX0:p.Arg3386His chr6 38812919 38812922 VAR_030171 + Q96JB1:p.Asn71Ser chr6 38855747 38855750 VAR_030172 + Q96JB1:p.Gly473Arg chr6 38858865 38858868 VAR_030173 + Q96JB1:p.Ile573Val chr6 38867356 38867359 VAR_030174 + Q96JB1:p.Ala727Thr chr6 38881269 38881272 VAR_030175 + Q96JB1:p.Gly807Glu chr6 38908141 38908144 VAR_030176 + Q96JB1:p.Glu1202Lys chr6 38948748 38948751 VAR_036213 + Q96JB1:p.Thr2226Met chr6 38958785 38958788 VAR_030177 + Q96JB1:p.Thr2444Asn chr6 39059974 39059977 VAR_030178 + Q96JB1:p.Thr4106Met chr6 39088058 39088061 VAR_030179 + Q96JB1:p.Ile4271Val chr17 11495323 11495326 VAR_036214 + Q9NYC9:p.Arg771Leu chr17 11628476 11628479 VAR_036215 + Q9NYC9:p.Asp2653His chr17 11730884 11730887 VAR_036216 + Q9NYC9:p.Thr3664Asn chr14 101576338 101576341 VAR_020889 + Q14204:p.Asp3902Asn chr14 101577806 101577809 VAR_020890 + Q14204:p.His4029Gln chr18 45160058 45160061 VAR_022740 - Q7RTS9:p.Glu87Lys chr18 45037430 45037433 VAR_022741 - Q7RTS9:p.Asn469Tyr chr19 10754733 10754736 VAR_031961 + P50570:p.Pro263Leu chr19 10765504 10765507 VAR_031962 + P50570:p.Glu368Lys chr19 10765507 10765510 VAR_031963 + P50570:p.Arg369Gln chr19 10765507 10765510 VAR_031964 + P50570:p.Arg369Trp chr19 10770218 10770221 VAR_031965 + P50570:p.Arg465Trp chr19 10784044 10784053 VAR_031966 + P50570:p.555_557del chr19 10791667 10791670 VAR_031967 + P50570:p.Lys562Glu chr19 10795533 10795536 VAR_039041 + P50570:p.Ala618Thr chr19 10795536 10795539 VAR_039042 + P50570:p.Ser619Leu chr19 10795536 10795539 VAR_039043 + P50570:p.Ser619Trp chr19 10795554 10795557 VAR_039044 + P50570:p.625del chr21 37799458 37799461 VAR_009395 + Q13627:p.Tyr415Phe chr21 37806446 37806449 VAR_040453 + Q13627:p.Ala679Pro chr21 37806452 37806455 VAR_009396 + Q13627:p.Gln681His chr12 4572490 4572493 VAR_033900 + Q9NR20:p.Ala61Thr chr12 4572517 4572520 VAR_040465 + Q9NR20:p.Ala70Ser chr12 4575575 4575578 VAR_010721 + Q9NR20:p.Val95Ile chr12 4578458 4578461 VAR_010722 + Q9NR20:p.Asn189Ser chr12 4592976 4592979 VAR_014948 + Q9NR20:p.Asp454Val chr2 71652550 71652553 VAR_024853 + O75923:p.Ala170Glu chr2 71652607 71652610 VAR_024854 + O75923:p.Leu189Val chr2 71654500 71654503 VAR_024855 + O75923:p.Arg253Trp chr2 71654967 71654970 VAR_024856 + O75923:p.Leu266Pro chr2 71655812 71655815 VAR_024857 + O75923:p.Gly299Glu chr2 71674064 71674067 VAR_024858 + O75923:p.Cys456Trp chr2 71690415 71690418 VAR_024859 + O75923:p.Arg555Trp chr2 71702857 71702860 VAR_012308 + O75923:p.Pro791Arg chr2 71708668 71708671 VAR_024860 + O75923:p.Arg959Trp chr2 71709415 71709418 VAR_024861 + O75923:p.Arg1022Gln chr2 71709463 71709466 VAR_024862 + O75923:p.Arg1038Gln chr2 71709487 71709490 VAR_024863 + O75923:p.Arg1046His chr2 71713000 71713003 VAR_024864 + O75923:p.Glu1065Glu chr2 71737449 71737452 VAR_024865 + O75923:p.Ile1208Met chr2 71739507 71739510 VAR_020308 + O75923:p.Arg1242His chr2 71739609 71739612 VAR_024866 + O75923:p.Leu1276Val chr2 71741578 71741581 VAR_012309 + O75923:p.Ile1298Val chr2 71750098 71750101 VAR_035893 + O75923:p.Ile1325Met chr2 71750116 71750119 VAR_024867 + O75923:p.Arg1331Leu chr2 71750128 71750131 VAR_024868 + O75923:p.Glu1335Lys chr2 71750288 71750291 VAR_035894 + O75923:p.Leu1349Val chr2 71750294 71750297 VAR_024869 + O75923:p.Asn1351Ser chr2 71803965 71803968 VAR_024870 + O75923:p.Arg1693Gln chr2 71806201 71806204 VAR_024871 + O75923:p.Glu1748Val chr2 71808432 71808435 VAR_012310 + O75923:p.His1857Arg chr2 71819836 71819839 VAR_024872 + O75923:p.Arg2000Gln chr2 71821381 71821384 VAR_012311 + O75923:p.Arg2042Cys chr15 53577813 53577816 VAR_017383 - Q8WXU2:p.Pro2Ser chr15 53577705 53577708 VAR_026214 - Q8WXU2:p.Asn38Lys chr15 53514445 53514448 VAR_026215 - Q8WXU2:p.Ala332Val chr15 53510162 53510165 VAR_017386 - Q8WXU2:p.Ser420Cys chr13 95037803 95037806 VAR_019456 - Q86YF9:p.Pro736Ser chr7 5862843 5862846 VAR_040466 - Q9BQI3:p.Arg117Thr chr7 5862798 5862801 VAR_040467 - Q9BQI3:p.Lys132Thr chr7 5862792 5862795 VAR_040468 - Q9BQI3:p.Arg134Lys chr7 5861710 5861713 VAR_040469 - Q9BQI3:p.Pro139Ser chr7 5861692 5861695 VAR_040470 - Q9BQI3:p.Arg145His chr7 5858966 5858969 VAR_040471 - Q9BQI3:p.Gly202Ser chr7 5854006 5854009 VAR_040472 - Q9BQI3:p.Phe292Leu chr7 5853925 5853928 VAR_040473 - Q9BQI3:p.Leu319His chr7 5839689 5839692 VAR_015732 - Q9BQI3:p.Lys558Arg chr20 31728976 31728979 VAR_013607 - Q01094:p.Arg252His chr20 31728904 31728907 VAR_013608 - Q01094:p.Val276Met chr20 31728704 31728707 VAR_013609 - Q01094:p.Thr311Asn chr20 31728333 31728336 VAR_013610 - Q01094:p.Gly393Ser chr1 23592832 23592835 VAR_018990 - Q14209:p.Gly205Arg chr1 23592769 23592772 VAR_018991 - Q14209:p.Gln226His chr6 20596352 20596355 VAR_014341 + O00716:p.Gly344Arg chr6 20598406 20598409 VAR_014342 + O00716:p.Asp389Asn chr16 65787253 65787256 VAR_014936 + Q16254:p.Thr293Pro chr16 65787331 65787334 VAR_014024 + Q16254:p.Ser319Ser chr8 86276958 86276961 VAR_014348 + Q15329:p.Gly18Ala chr11 19203858 19203861 VAR_034735 - A0AVK6:p.Ile674Val chr3 123604409 123604412 VAR_028849 + Q96A26:p.Ala50Val chr6 131319267 131319270 VAR_020145 - O43491:p.Gln17His chr5 36712837 36712840 VAR_011877 + P43003:p.Glu219Asp chr5 36715492 36715495 VAR_031733 + P43003:p.Pro290Arg chr9 4480757 4480760 VAR_023309 + P43005:p.Ala27Gly chr9 4534622 4534625 VAR_023308 + P43005:p.Phe50Tyr chr14 34063730 34063733 VAR_031915 - Q56P03:p.Gln168Glu chrX 48138650 48138653 VAR_012105 + Q15125:p.Glu80Lys chrX 48141656 48141659 VAR_012106 + Q15125:p.Arg110Gln chrX 48141896 48141899 VAR_012107 + Q15125:p.Arg147Gly chrX 48141896 48141899 VAR_012108 + Q15125:p.Arg147His chr1 21319159 21319162 VAR_011972 - P42892:p.Thr341Ile chr1 21291804 21291807 VAR_026747 - P42892:p.Arg754Cys chr2 233176838 233176841 VAR_012813 - O95672:p.His10Gln chr2 233175090 233175093 VAR_012814 - O95672:p.His328Tyr chr19 44013925 44013928 VAR_014927 - Q13011:p.Glu41Ala chr19 43998940 43998943 VAR_033913 - Q13011:p.Gly217Arg chr2 26349034 26349037 VAR_021125 - P40939:p.Val282Asp chr2 26348965 26348968 VAR_021126 - P40939:p.Ile305Asn chr2 26344358 26344361 VAR_021127 - P40939:p.Leu342Pro chr2 26329701 26329704 VAR_002273 - P40939:p.Glu510Gln chr2 26397963 26397966 VAR_021128 + P55084:p.Gly59Asp chr2 26397969 26397972 VAR_021129 + P55084:p.Arg61Cys chr2 26397969 26397972 VAR_007493 + P55084:p.Arg61His chr2 26408263 26408266 VAR_021130 + P55084:p.Arg117Gly chr2 26411591 26411594 VAR_035705 + P55084:p.Ala119Val chr2 26411597 26411600 VAR_021131 + P55084:p.Leu121Pro chr2 26411633 26411636 VAR_021132 + P55084:p.Thr133Pro chr2 26413314 26413317 VAR_028231 + P55084:p.Pro209Ser chr2 26413746 26413749 VAR_021133 + P55084:p.Asp242Gly chr2 26413761 26413764 VAR_007494 + P55084:p.Arg247His chr2 26413797 26413833 VAR_021134 + P55084:p.259_270del chr2 26413809 26413812 VAR_007495 + P55084:p.Asp263Gly chr2 26414538 26414541 VAR_021135 + P55084:p.Gly280Asp chr2 26414580 26414583 VAR_021136 + P55084:p.Pro294Leu chr2 26414580 26414583 VAR_021137 + P55084:p.Pro294Arg chr2 26414601 26414604 VAR_021138 + P55084:p.Gly301Ser chr2 26420030 26420033 VAR_017409 + P55084:p.Arg444Lys chr1 53085567 53085570 VAR_036951 - Q86YB7:p.Asn119Asp chr10 135075685 135075688 VAR_022273 - P30084:p.Val11Ala chr10 135073005 135073008 VAR_022274 - P30084:p.Thr75Ile chr9 92364535 92364538 VAR_024646 - O94769:p.Gln56Pro chr14 20429898 20429901 VAR_014109 + P12724:p.Arg72Cys chr14 20430054 20430057 VAR_013149 + P12724:p.Thr124Arg chr14 20430072 20430075 VAR_029017 + P12724:p.Gly130Arg chr19 11479627 11479630 VAR_032907 - Q9BQ95:p.Arg278Cys chr19 11478076 11478079 VAR_032908 - Q9BQ95:p.Gly406Arg chr1 232971795 232971798 VAR_013482 + Q8WWZ3:p.Glu152Lys chr2 109004266 109004269 VAR_013448 - Q9UNE0:p.Cys87Arg chr2 109004260 109004263 VAR_013449 - Q9UNE0:p.Arg89His chr2 108972117 108972120 VAR_020011 - Q9UNE0:p.Val370Ala chr2 108971967 108971970 VAR_013450 - Q9UNE0:p.Arg420Gln chrX 68619332 68619335 VAR_010611 + Q92838:p.His54Tyr chrX 68619335 68619338 VAR_010612 + Q92838:p.Leu55Arg chrX 68619350 68619353 VAR_013484 + Q92838:p.Cys60Arg chrX 68619353 68619356 VAR_005179 + Q92838:p.Tyr61His chrX 68619359 68619362 VAR_005180 + Q92838:p.Glu63Lys chrX 68619365 68619368 VAR_029534 + Q92838:p.Arg65Gly chrX 68619377 68619380 VAR_005181 + Q92838:p.Arg69Leu chrX 68619524 68619527 VAR_036590 + Q92838:p.Pro118Leu chrX 68959963 68959966 VAR_005182 + Q92838:p.Arg155Cys chrX 68959966 68959969 VAR_005183 + Q92838:p.Arg156Cys chrX 68959966 68959969 VAR_005184 + Q92838:p.Arg156His chrX 69030825 69030828 VAR_005185 + Q92838:p.Pro209Leu chrX 69030870 69030873 VAR_005186 + Q92838:p.Gly224Ala chrX 69033351 69033354 VAR_005187 + Q92838:p.His252Leu chrX 69033351 69033354 VAR_013485 + Q92838:p.His252Tyr chrX 69033360 69033363 VAR_011077 + Q92838:p.Gly255Cys chrX 69033360 69033363 VAR_011078 + Q92838:p.Gly255Asp chrX 69036279 69036282 VAR_013486 + Q92838:p.Gly269Val chrX 69036294 69036297 VAR_011079 + Q92838:p.Trp274Gly chrX 69036345 69036348 VAR_010613 + Q92838:p.Gly291Arg chrX 69036345 69036348 VAR_010614 + Q92838:p.Gly291Trp chrX 69036366 69036369 VAR_010615 + Q92838:p.Asp298His chrX 69036369 69036372 VAR_005188 + Q92838:p.Gly299Ser chrX 69036378 69036381 VAR_013487 + Q92838:p.Phe302Ser chrX 69038297 69038300 VAR_011080 + Q92838:p.Cys332Tyr chrX 69038348 69038351 VAR_005189 + Q92838:p.Ala349Thr chrX 69038369 69038372 VAR_005190 + Q92838:p.Ala356Asp chrX 69038372 69038375 VAR_005191 + Q92838:p.Arg357Pro chrX 69038435 69038438 VAR_013488 + Q92838:p.Thr378Met chr20 33167265 33167268 VAR_012165 - Q9BV94:p.Ala456Thr chr9 88846395 88846398 VAR_033465 + Q99500:p.Arg243Gln chr19 3130882 3130885 VAR_022066 + O95977:p.Arg365Leu chr19 10485733 10485736 VAR_033466 - Q9H228:p.Leu318Gln chr1 41615908 41615911 VAR_033914 - P20800:p.Phe131Leu chr1 41614205 41614208 VAR_018817 - P20800:p.Pro168Leu chr20 57309310 57309313 VAR_009078 + P14138:p.Ala17Thr chr20 57329479 57329482 VAR_015238 + P14138:p.Tyr127Cys chr20 57329575 57329578 VAR_002353 + P14138:p.Cys159Phe chr20 57332861 57332864 VAR_009079 + P14138:p.Ala224Thr chr4 148764843 148764846 VAR_035758 + P25101:p.Ile136Leu chr13 77390694 77390697 VAR_019285 - P24530:p.Pro5Thr chr13 77390688 77390691 VAR_014675 - P24530:p.Leu7Gln chr13 77390658 77390661 VAR_014676 - P24530:p.Leu17Phe chr13 77390538 77390541 VAR_003469 - P24530:p.Gly57Ser chr13 77390481 77390484 VAR_024255 - P24530:p.Arg76Met chr13 77390373 77390376 VAR_014677 - P24530:p.Phe112Val chr13 77375677 77375680 VAR_003470 - P24530:p.Ala183Gly chr13 77375360 77375363 VAR_014678 - P24530:p.Thr244Met chr13 77373316 77373319 VAR_003471 - P24530:p.Trp276Cys chr13 77373268 77373271 VAR_015294 - P24530:p.Phe292Leu chr13 77373229 77373232 VAR_003472 - P24530:p.Ser305Asn chr13 77372784 77372787 VAR_003473 - P24530:p.Arg319Trp chr13 77372066 77372069 VAR_003474 - P24530:p.Met374Ile chr13 77372039 77372042 VAR_003475 - P24530:p.Pro383Leu chr10 127399786 127399789 VAR_035862 + Q3B7T1:p.Asn45Ser chr10 127399936 127399939 VAR_035863 + Q3B7T1:p.Leu95Phe chr16 22144617 22144620 VAR_033915 + O00418:p.His23Arg chr16 22144773 22144776 VAR_033916 + O00418:p.Pro75Ala chr16 22176176 22176179 VAR_041534 + O00418:p.Thr291Met chr16 22179348 22179351 VAR_041535 + O00418:p.Arg433Trp chr16 22192507 22192510 VAR_041536 + O00418:p.Asp609His chr11 820043 820046 VAR_031481 + Q8N4Y2:p.Gly173Ser chr12 3676405 3676408 VAR_031483 - Q9BSW2:p.Arg7Gly chr12 3659710 3659713 VAR_031484 - Q9BSW2:p.Ala98Thr chr12 3658481 3658484 VAR_031485 - Q9BSW2:p.Ala128Val chr12 3658457 3658460 VAR_031486 - Q9BSW2:p.His136Pro chr12 3658403 3658406 VAR_031487 - Q9BSW2:p.Glu154Lys chr12 3652907 3652910 VAR_031488 - Q9BSW2:p.His212Gln chr17 57847125 57847128 VAR_028377 + Q8N7B9:p.Gly341Arg chr17 57847194 57847197 VAR_028378 + Q8N7B9:p.Met364Ile chr17 57847212 57847215 VAR_028379 + Q8N7B9:p.Ser370Ala chr3 159847385 159847388 VAR_021512 + Q96RP9:p.Asn174Ser chr3 159849601 159849604 VAR_028303 + Q96RP9:p.Val215Ile chr3 159865932 159865935 VAR_031901 + Q96RP9:p.Met496Arg chr13 20975217 20975220 VAR_027662 - Q8IYU8:p.Gln260Leu chr6 52396867 52396870 VAR_023619 + Q5JVL4:p.Pro77Thr chr6 52411249 52411252 VAR_023620 + Q5JVL4:p.Arg159Trp chr6 52411294 52411297 VAR_043154 + Q5JVL4:p.Ile174Val chr6 52411318 52411321 VAR_023621 + Q5JVL4:p.Arg182His chr6 52425498 52425501 VAR_023622 + Q5JVL4:p.Asp210Asn chr6 52425531 52425534 VAR_023623 + Q5JVL4:p.Arg221His chr6 52425555 52425558 VAR_023624 + Q5JVL4:p.Phe229Leu chr6 52426884 52426887 VAR_023625 + Q5JVL4:p.Asp253Tyr chr6 52426902 52426905 VAR_043155 + Q5JVL4:p.Cys259Tyr chr6 52426980 52426983 VAR_026531 + Q5JVL4:p.Arg285Ile chr6 52427007 52427010 VAR_043156 + Q5JVL4:p.Arg294His chr6 52437791 52437794 VAR_043157 + Q5JVL4:p.Arg353Trp chr6 52442131 52442134 VAR_043158 + Q5JVL4:p.Ala394Ser chr6 52451856 52451859 VAR_043159 + Q5JVL4:p.Met448Thr chr6 52465029 52465032 VAR_023626 + Q5JVL4:p.Ile619Leu chr1 151919298 151919301 VAR_014791 + P20827:p.Asp159Val chr5 106791069 106791072 VAR_012035 - P52803:p.Asn55Lys chrX 67832718 67832721 VAR_023127 + P98172:p.Pro27Arg chrX 67841511 67841514 VAR_023128 + P98172:p.Pro54Leu chrX 67841535 67841538 VAR_023129 + P98172:p.Ile62Thr chrX 67841643 67841646 VAR_023130 + P98172:p.Leu98Ser chrX 67841682 67841685 VAR_023131 + P98172:p.Thr111Ile chrX 67841694 67841697 VAR_023132 + P98172:p.Gln115Pro chrX 67841706 67841709 VAR_023133 + P98172:p.Pro119His chrX 67841706 67841709 VAR_023134 + P98172:p.Pro119Ser chrX 67841706 67841709 VAR_023135 + P98172:p.Pro119Thr chrX 67842529 67842532 VAR_023136 + P98172:p.Thr137Ala chrX 67842532 67842535 VAR_023137 + P98172:p.Ser138Phe chrX 67842571 67842574 VAR_023138 + P98172:p.Gly151Ser chrX 67842571 67842574 VAR_023139 + P98172:p.Gly151Val chrX 67842577 67842580 VAR_023140 + P98172:p.Cys153Ser chrX 67842577 67842580 VAR_023141 + P98172:p.Cys153Tyr chrX 67842580 67842583 VAR_023142 + P98172:p.Arg154His chrX 67842583 67842586 VAR_023143 + P98172:p.Thr155Pro chrX 67842592 67842595 VAR_023144 + P98172:p.Met158Ile chrX 67842592 67842595 VAR_023145 + P98172:p.Met158Val chrX 67842867 67842870 VAR_023146 + P98172:p.Ser182Arg chrX 67842888 67842891 VAR_023147 + P98172:p.Val189Ala chr17 7552557 7552560 VAR_002356 + Q15768:p.Arg166Gln chr14 22898443 22898446 VAR_035912 - O43281:p.Met361Ile chrX 13372619 13372622 VAR_033366 + Q8IUX8:p.Glu66Lys chrX 13381181 13381184 VAR_033367 + Q8IUX8:p.Arg164Cys chrX 13405022 13405025 VAR_033368 + Q8IUX8:p.Leu508Phe chrX 13410811 13410814 VAR_033369 + Q8IUX8:p.Asp535Asn chr9 136840504 136840507 VAR_019791 + Q9UHF1:p.Val153Ile chr6 32242486 32242489 VAR_019792 + Q99944:p.Arg86Lys chr6 32243112 32243115 VAR_019793 + Q99944:p.Ala204Glu chr5 38386398 38386401 VAR_035302 + Q63HQ2:p.Arg111His chr5 38406293 38406296 VAR_035303 + Q63HQ2:p.Trp229Arg chr5 38448429 38448432 VAR_035304 + Q63HQ2:p.Thr473Met chr5 38460866 38460869 VAR_035305 + Q63HQ2:p.His576Asn chr6 66261664 66261667 VAR_035301 - Q6UY05:p.Thr120Met chr7 54985257 54985260 VAR_019293 + P00533:p.Arg98Gln chr7 54995960 54995963 VAR_019294 + P00533:p.Pro266Arg chr7 55003462 55003465 VAR_019295 + P00533:p.Arg521Lys chr7 55014984 55014987 VAR_019296 + P00533:p.Val674Ile chr7 55015885 55015888 VAR_026084 + P00533:p.Glu709Ala chr7 55015885 55015888 VAR_026085 + P00533:p.Glu709Lys chr7 55015915 55015918 VAR_026086 + P00533:p.Gly719Ala chr7 55015915 55015918 VAR_026087 + P00533:p.Gly719Cys chr7 55015915 55015918 VAR_026088 + P00533:p.Gly719Asp chr7 55015915 55015918 VAR_019297 + P00533:p.Gly719Ser chr7 55015930 55015933 VAR_026089 + P00533:p.Gly724Ser chr7 55016638 55016641 VAR_026090 + P00533:p.Glu734Lys chr7 55016674 55016689 VAR_026092 + P00533:p.746_750del chr7 55016674 55016677 VAR_026091 + P00533:p.746del chr7 55016677 55016686 VAR_026094 + P00533:p.747_749del chr7 55016677 55016680 VAR_026093 + P00533:p.Leu747Phe chr7 55016680 55016683 VAR_026095 + P00533:p.Arg748Pro chr7 55016692 55016716 VAR_026096 + P00533:p.752_759del chr7 55023269 55023272 VAR_026097 + P00533:p.Gln787Arg chr7 55023278 55023281 VAR_026098 + P00533:p.Thr790Met chr7 55033647 55033650 VAR_026099 + P00533:p.Leu833Val chr7 55033650 55033653 VAR_026100 + P00533:p.Val834Leu chr7 55033722 55033725 VAR_026101 + P00533:p.Leu858Met chr7 55033722 55033725 VAR_019298 + P00533:p.Leu858Arg chr7 55033731 55033734 VAR_026102 + P00533:p.Leu861Gln chr7 55033767 55033770 VAR_026103 + P00533:p.Gly873Glu chr7 55042252 55042255 VAR_019299 + P00533:p.Arg962Gly chr7 55043104 55043107 VAR_019300 + P00533:p.His988Pro chr7 55043242 55043245 VAR_042095 + P00533:p.Leu1034Arg chr7 55047513 55047516 VAR_042096 + P00533:p.Ala1210Val chr4 111192140 111192143 VAR_020161 + P01133:p.Ser16Arg chr4 111222136 111222139 VAR_033825 + P01133:p.His151Tyr chr4 111223863 111223866 VAR_020968 + P01133:p.Asp257His chr4 111223968 111223971 VAR_033826 + P01133:p.Leu292His chr4 111240723 111240726 VAR_020162 + P01133:p.Arg431Lys chr4 111254853 111254856 VAR_020969 + P01133:p.Ser638Arg chr4 111258844 111258847 VAR_020163 + P01133:p.Gly723Arg chr4 111259713 111259716 VAR_020164 + P01133:p.Asp784Val chr4 111266535 111266538 VAR_020165 + P01133:p.Met842Thr chr4 111273575 111273578 VAR_020971 + P01133:p.Asp981Glu chr4 111278559 111278562 VAR_020166 + P01133:p.Leu1043Phe chr4 111283298 111283301 VAR_039474 + P01133:p.Pro1070Leu chr4 111283340 111283343 VAR_020972 + P01133:p.Ala1084Gly chr1 227816520 227816523 VAR_027371 - Q9GZT9:p.Pro317Arg chr9 127696173 127696176 VAR_005192 - P17813:p.Thr5Met chr9 127696164 127696167 VAR_026774 - P17813:p.Leu8Pro chr9 127684998 127685001 VAR_026775 - P17813:p.Val49Phe chr9 127684989 127684992 VAR_005193 - P17813:p.Gly52Val chr9 127684986 127684989 VAR_005194 - P17813:p.Cys53Arg chr9 127671558 127671561 VAR_026776 - P17813:p.Leu107Arg chr9 127668418 127668421 VAR_005195 - P17813:p.Trp149Cys chr9 127668385 127668388 VAR_009120 - P17813:p.Ala160Asp chr9 127667622 127667643 VAR_005196 - P17813:p.192_198del chr9 127667595 127667598 VAR_026777 - P17813:p.207del chr9 127667553 127667556 VAR_009121 - P17813:p.Leu221Pro chr9 127667180 127667186 VAR_026778 - P17813:p.232_233del chr9 127667090 127667093 VAR_026780 - P17813:p.Ile263Thr chr9 127667090 127667093 VAR_026779 - P17813:p.263del chr9 127666705 127666708 VAR_005197 - P17813:p.Leu306Pro chr9 127666172 127666175 VAR_014764 - P17813:p.Asp366His chr9 127661768 127661771 VAR_026781 - P17813:p.Cys412Ser chr9 127661765 127661768 VAR_037140 - P17813:p.Gly413Val chr9 127660126 127660129 VAR_026782 - P17813:p.Val504Met chr9 127657782 127657785 VAR_026783 - P17813:p.Ser615Leu chr5 137830466 137830469 VAR_029330 + P18146:p.Asn144Lys chr5 137830469 137830472 VAR_029331 + P18146:p.Ser145Arg chr5 137830691 137830694 VAR_029332 + P18146:p.Glu219Asp chr10 64243599 64243602 VAR_007735 - P11161:p.Ile268Asn chr10 64243338 64243341 VAR_007736 - P11161:p.Asp355Val chr10 64243326 64243329 VAR_009874 - P11161:p.Arg359Trp chr10 64243260 64243263 VAR_029958 - P11161:p.Arg381Cys chr10 64243260 64243263 VAR_009875 - P11161:p.Arg381His chr10 64243254 64243260 VAR_007737 - P11161:p.Ser382_Asp383delinsArgTyr chr10 64243254 64243257 VAR_029959 - P11161:p.Asp383Tyr chr10 64243176 64243179 VAR_007738 - P11161:p.Arg409Trp chr2 63013210 63013213 VAR_035913 + Q8NDI1:p.Arg395Thr chr2 63087789 63087792 VAR_031992 + Q8NDI1:p.Lys755Gln chr19 52911849 52911852 VAR_033917 + Q9NZN4:p.Gly57Ser chr9 137886955 137886958 VAR_036345 + Q9H9B1:p.Ala12Val chr9 137914370 137914373 VAR_027642 + Q9H9B1:p.Ala357Thr chr9 137988403 137988406 VAR_036346 + Q9H9B1:p.Tyr1142Phe chr12 122634216 122634219 VAR_015404 - Q14232:p.Asn208Tyr chr14 74541269 74541272 VAR_016842 + P49770:p.Ser171Phe chr14 74542360 74542363 VAR_012289 + P49770:p.Glu213Gly chr14 74543155 74543158 VAR_012321 + P49770:p.Lys273Arg chr14 74545533 74545536 VAR_012290 + P49770:p.Val316Asp chr14 74545572 74545575 VAR_012322 + P49770:p.Gly329Val chr2 27502563 27502566 VAR_015405 - Q9UI10:p.Ala228Val chr2 27501686 27501689 VAR_015406 - Q9UI10:p.Arg306Gly chr2 27501396 27501399 VAR_015407 - Q9UI10:p.Arg357Gln chr2 27501345 27501348 VAR_015408 - Q9UI10:p.Arg374Cys chr2 27499094 27499097 VAR_016843 - Q9UI10:p.Cys465Arg chr2 27499022 27499025 VAR_016844 - Q9UI10:p.Tyr489His chr1 45113112 45113115 VAR_015409 - Q9NR50:p.Ala87Val chr1 45016485 45016488 VAR_015410 - Q9NR50:p.Arg225Gln chr19 44722541 44722544 VAR_038351 - Q8N6I1:p.Ala6Thr chr11 65524367 65524370 VAR_037851 - Q8N9N8:p.Asp23Asn chr11 65522666 65522669 VAR_037852 - Q8N9N8:p.Ser159Asn chr10 120810794 120810797 VAR_024438 - Q14152:p.Glu386Lys chr11 7965589 7965592 VAR_029267 + O00303:p.Pro39Leu chr11 7970284 7970286 VAR_014452 + O00303:p.Trp172Leu chr11 7971009 7971010 VAR_014452 + O00303:p.Trp172Leu chr15 42636989 42636992 VAR_034007 + O75822:p.Ala141Thr chr11 32565199 32565202 VAR_036752 + Q7L2H7:p.Gly37Arg chr11 32566777 32566780 VAR_036753 + Q7L2H7:p.Glu80Gly chr11 32580431 32580434 VAR_036754 + Q7L2H7:p.Gln346Arg chr1 200842202 200842205 VAR_022145 - Q9NVF9:p.Arg227Gln chr12 50025914 50025917 VAR_033645 - Q9UNI1:p.Gln10His chr12 50023871 50023874 VAR_033646 - Q9UNI1:p.Arg44Trp chr12 50023826 50023829 VAR_033647 - Q9UNI1:p.Met59Val chr12 50022723 50022726 VAR_036295 - Q9UNI1:p.Gly76Ala chr12 50009764 50009767 VAR_033648 - Q9UNI1:p.Gln243Arg chr20 43237935 43237938 VAR_024695 + P19957:p.Thr34Pro chrX 47254769 47254772 VAR_017108 - P19419:p.Gly144Ser chrX 47254652 47254655 VAR_017109 - P19419:p.Ser183Asn chr15 41856358 41856361 VAR_018992 - Q9HB65:p.Gln11Glu chr19 803901 803904 VAR_009538 + P08246:p.Gly32Val chr19 803970 803973 VAR_038609 + P08246:p.Cys55Tyr chr19 803976 803979 VAR_038610 + P08246:p.Ala57Thr chr19 803985 803988 VAR_038611 + P08246:p.Ile60Thr chr19 804018 804021 VAR_038612 + P08246:p.Cys71Arg chr19 804018 804021 VAR_038613 + P08246:p.Cys71Ser chr19 804289 804292 VAR_038614 + P08246:p.Gly85Glu chr19 804328 804331 VAR_038615 + P08246:p.Val98Leu chr19 804337 804340 VAR_038616 + P08246:p.Val101Leu chr19 804337 804340 VAR_038617 + P08246:p.Val101Met chr19 806563 806566 VAR_038618 + P08246:p.Leu123Pro chr19 806572 806575 VAR_038619 + P08246:p.Ser126Leu chr19 806611 806614 VAR_038620 + P08246:p.Pro139Leu chr19 806647 806650 VAR_038621 + P08246:p.Cys151Ser chr19 806725 806728 VAR_009539 + P08246:p.Val177Phe chr19 806764 806794 VAR_038622 + P08246:p.190_199del chr19 806767 806770 VAR_009540 + P08246:p.Arg191Gln chr19 806972 806975 VAR_038623 + P08246:p.Pro205Arg chr19 806987 806990 VAR_038624 + P08246:p.Gly210Val chr19 806999 807002 VAR_038625 + P08246:p.Gly214Arg chr19 807014 807017 VAR_019237 + P08246:p.Val219Ile chr19 807128 807131 VAR_019238 + P08246:p.Pro257Leu chr19 807143 807146 VAR_019239 + P08246:p.Pro262Leu chr1 23822755 23822758 VAR_020104 + Q14241:p.Thr119Met chr1 23823292 23823295 VAR_033850 + Q14241:p.Val298Ile chr1 23824244 23824247 VAR_033851 + Q14241:p.Ala490Val chr18 42814139 42814142 VAR_035914 - Q8IYF1:p.Arg498Gln chr6 80683187 80683190 VAR_017043 - Q9GZR5:p.Ile267Thr chr6 80683091 80683094 VAR_012492 - Q9GZR5:p.Met299Val chr18 31972323 31972326 VAR_024072 + Q6IA86:p.Thr128Pro chr18 31979928 31979931 VAR_024073 + Q6IA86:p.Val305Met chr18 31980291 31980294 VAR_024074 + Q6IA86:p.His359Arg chr18 31993781 31993784 VAR_033804 + Q6IA86:p.Ile541Thr chr18 31993787 31993790 VAR_033805 + Q6IA86:p.Thr543Pro chr18 32008503 32008506 VAR_024075 + Q6IA86:p.Glu795Gly chr18 32008536 32008539 VAR_024076 + Q6IA86:p.His806Pro chr18 32008563 32008566 VAR_033806 + Q6IA86:p.Thr815Pro chrX 153571212 153571215 VAR_011914 - Q00013:p.Glu448Gln chr19 50833682 50833685 VAR_031723 - O95834:p.Met33Val chr19 50825093 50825096 VAR_031724 - O95834:p.Leu187Phe chr19 50821838 50821841 VAR_024697 - O95834:p.Glu235Asp chr19 50816355 50816358 VAR_022026 - O95834:p.Arg357His chr19 50811615 50811618 VAR_035879 - O95834:p.Val484Leu chr2 42427086 42427089 VAR_031728 + Q9HC35:p.Lys398Arg chr2 42468983 42468986 VAR_031729 + Q9HC35:p.Ser978Leu chrX 153128973 153128976 VAR_005198 + P50402:p.Ser54Phe chrX 153129571 153129574 VAR_016016 + P50402:p.Gln133His chrX 153130004 153130007 VAR_038433 + P50402:p.Asp149His chrX 153130185 153130188 VAR_005199 + P50402:p.Pro183His chrX 153130185 153130188 VAR_005200 + P50402:p.Pro183Thr chr17 45807712 45807715 VAR_025337 + Q96AY2:p.Ile49Val chr17 45807772 45807775 VAR_025338 + Q96AY2:p.Glu69Asp chr17 45811190 45811193 VAR_025339 + Q96AY2:p.Ile350Thr chr22 27936172 27936173 VAR_019803 + Q96A84:p.Ala107Gly chr22 27945681 27945683 VAR_019803 + Q96A84:p.Ala107Gly chr19 14630336 14630339 VAR_024472 - Q9BY15:p.Glu127Gln chr4 71873903 71873906 VAR_024311 + Q9NRM1:p.Phe576Leu chr4 71874119 71874122 VAR_024312 + Q9NRM1:p.Ile648Thr chr4 71874347 71874350 VAR_020105 + Q9NRM1:p.Pro724Leu chr4 71874464 71874467 VAR_024313 + Q9NRM1:p.Arg763Gln chr11 94501935 94501938 VAR_022044 + O94919:p.Val350Met chr11 94502223 94502226 VAR_022045 + O94919:p.Gly446Val chr1 8860739 8860742 VAR_025172 - P06733:p.Asn177Lys chr17 4799136 4799139 VAR_020620 + P13929:p.Gly156Asp chr17 4800643 4800646 VAR_020621 + P13929:p.Gly374Glu chr12 6899112 6899115 VAR_002354 + P09104:p.Pro264Ala chr12 6901773 6901776 VAR_002355 + P09104:p.Thr395Ala chr6 46243940 46243943 VAR_020248 - Q9UJA9:p.Leu6Ile chr6 46243841 46243844 VAR_033918 - Q9UJA9:p.Arg39Pro chr6 46243445 46243448 VAR_024693 - Q9UJA9:p.Ile171Val chr4 185387544 185387547 VAR_026644 - Q6UWR7:p.Ser419Gly chr17 75319505 75319508 VAR_021506 + Q6UWV6:p.Leu4Pro chr22 38607925 38607928 VAR_037449 - Q8IYW4:p.Ile109Thr chr21 18692467 18692470 VAR_031686 - P98073:p.Thr65Ile chr21 18692431 18692434 VAR_021940 - P98073:p.Lys77Arg chr21 18626290 18626293 VAR_031688 - P98073:p.Ser545Cys chr21 18609385 18609388 VAR_024292 - P98073:p.Asn660His chr21 18588459 18588462 VAR_031690 - P98073:p.Tyr828Cys chr10 97597255 97597258 VAR_022099 + P49961:p.Val293Ile chr3 40440422 40440425 VAR_027541 + O75355:p.Glu440Asp chr3 40443898 40443901 VAR_027542 + O75355:p.Ala496Val chr3 40443925 40443928 VAR_027543 + O75355:p.Leu505Phe chr8 23350703 23350706 VAR_020444 - Q9Y227:p.Lys354Glu chr10 101441247 101441250 VAR_030287 + Q9NQZ7:p.Val276Ala chr9 137608313 137608316 VAR_035339 - Q5MY95:p.Leu62Pro chr3 27733624 27733627 VAR_036069 - O95936:p.Glu667Gln chr1 51538941 51538944 VAR_016142 - P42566:p.Ile822Met chr20 33228214 33228217 VAR_012282 + Q9UNN8:p.Ser219Gly chr7 142612813 142612816 VAR_042115 - P21709:p.Arg351Cys chr7 142611988 142611991 VAR_028266 - P21709:p.Arg492Gln chr7 142611279 142611282 VAR_042116 - P21709:p.Arg575Gln chr7 142611249 142611252 VAR_042117 - P21709:p.Ala585Thr chr7 142609104 142609107 VAR_042118 - P21709:p.Pro697Leu chr7 142609086 142609089 VAR_042119 - P21709:p.Glu703Lys chr7 142608204 142608207 VAR_042120 - P21709:p.Ser807Arg chr3 89259068 89259071 VAR_036086 + P29320:p.Thr37Lys chr3 89341798 89341801 VAR_036087 + P29320:p.Asn85Ser chr3 89342230 89342233 VAR_042126 + P29320:p.Ser229Tyr chr3 89527714 89527717 VAR_042127 + P29320:p.Ser449Phe chr3 89531277 89531280 VAR_042128 + P29320:p.Gly518Leu chr3 89539203 89539206 VAR_042129 + P29320:p.Ile564Val chr3 89539910 89539913 VAR_042130 + P29320:p.Cys568Ser chr3 89544985 89544988 VAR_042131 + P29320:p.Leu590Pro chr3 89545078 89545081 VAR_036088 + P29320:p.Ile621Leu chr3 89563148 89563151 VAR_042132 + P29320:p.Gly766Glu chr3 89563181 89563184 VAR_042133 + P29320:p.Ala777Gly chr3 89581133 89581136 VAR_036089 + P29320:p.Asp806Asn chr3 89604352 89604355 VAR_027919 + P29320:p.Arg914His chr3 89604382 89604385 VAR_042134 + P29320:p.Trp924Arg chr1 22641125 22641128 VAR_042153 + P29322:p.Gly45Ser chr1 22648033 22648036 VAR_042154 + P29322:p.Val60Leu chr1 22648222 22648225 VAR_042155 + P29322:p.Asn123Lys chr1 22648390 22648393 VAR_042156 + P29322:p.Arg179Cys chr1 22648447 22648450 VAR_042157 + P29322:p.Arg198Leu chr1 22665138 22665141 VAR_022107 + P29322:p.Val444Met chr1 22669178 22669181 VAR_024514 + P29322:p.Glu612Gln chr1 22672735 22672738 VAR_042158 + P29322:p.Pro860Leu chr3 135997222 135997225 VAR_042165 + P54762:p.Met18Val chr3 136153045 136153048 VAR_011801 + P54762:p.Thr87Ser chr3 136153240 136153243 VAR_011802 + P54762:p.Gly152Arg chr3 136334390 136334393 VAR_011803 + P54762:p.Arg367Gly chr3 136334450 136334453 VAR_042166 + P54762:p.Thr387Met chr3 136363587 136363590 VAR_011804 + P54762:p.Arg485Ser chr3 136394351 136394354 VAR_042167 + P54762:p.Ser707Thr chr3 136403037 136403040 VAR_042168 + P54762:p.Ile719Val chr3 136403109 136403112 VAR_042169 + P54762:p.Arg743Gln chr3 136449897 136449900 VAR_011805 + P54762:p.Met847Thr chr3 136450918 136450921 VAR_042170 + P54762:p.Ala912Thr chr3 136460645 136460648 VAR_042171 + P54762:p.Thr981Met chr7 142078758 142078761 VAR_019139 + O15197:p.Gly107Ser chr7 142078902 142078905 VAR_042190 + O15197:p.Ser155Thr chr7 142079055 142079058 VAR_042191 + O15197:p.Ala206Val chr7 142079238 142079241 VAR_042192 + O15197:p.Pro267His chr7 142079238 142079241 VAR_019140 + O15197:p.Pro267Arg chr7 142079319 142079322 VAR_042193 + O15197:p.Arg294Gln chr7 142080089 142080092 VAR_019141 + O15197:p.Ser309Ala chr7 142080113 142080116 VAR_042194 + O15197:p.Ser317Leu chr7 142080197 142080200 VAR_036091 + O15197:p.Asp345Asn chr7 142081107 142081110 VAR_019142 + O15197:p.Arg484Gln chr7 142082258 142082261 VAR_036092 + O15197:p.Ala588Pro chr7 142082900 142082903 VAR_042195 + O15197:p.Ala647Val chr7 142083202 142083205 VAR_036093 + O15197:p.Arg704Gln chr7 142083274 142083277 VAR_042196 + O15197:p.Pro728Ser chr7 142083716 142083719 VAR_042197 + O15197:p.Arg798His chr7 142084818 142084821 VAR_042198 + O15197:p.Glu860Lys chr7 142084983 142084986 VAR_036094 + O15197:p.Asp915Gly chr7 142085404 142085407 VAR_042199 + O15197:p.Ile978Val chr6 146098252 146098255 VAR_019465 - O95278:p.Ser25Pro chr6 146098243 146098246 VAR_019466 - O95278:p.Glu28Lys chr6 146098231 146098234 VAR_019467 - O95278:p.Trp32Gly chr6 146098189 146098192 VAR_019468 - O95278:p.Ala46Pro chr6 146098075 146098078 VAR_019469 - O95278:p.Phe84Leu chr6 146098063 146098066 VAR_019470 - O95278:p.Phe88Leu chr6 146098054 146098057 VAR_019471 - O95278:p.Arg91Pro chr6 146049102 146049105 VAR_019472 - O95278:p.Arg108Cys chr6 146049084 146049087 VAR_019473 - O95278:p.Glu114Asp chr6 145998278 145998281 VAR_019474 - O95278:p.Arg171His chr6 145998230 145998233 VAR_019475 - O95278:p.Thr187Ala chr6 145998209 145998212 VAR_019476 - O95278:p.Thr194Ile chr6 145990403 145990406 VAR_019478 - O95278:p.Gly279Ser chr6 145990361 145990364 VAR_019479 - O95278:p.Gln293Leu chr6 145990358 145990361 VAR_019480 - O95278:p.Tyr294Asn chr6 145990337 145990340 VAR_019481 - O95278:p.Pro301Leu chr19 11350046 11350049 VAR_033919 - P19235:p.Pro380Ala chr19 11349725 11349728 VAR_027372 - P19235:p.Asn487Ser chr19 11349722 11349725 VAR_027373 - P19235:p.Pro488Ser chr7 99965081 99965087 VAR_009870 + P01588:p.Ser131_Leu132delinsAsnPhe chr7 99965269 99965272 VAR_009871 + P01588:p.Pro149Gln chr20 43604867 43604870 VAR_024696 - O95925:p.His92Arg chr12 89869115 89869118 VAR_031595 - Q99645:p.Ser150Cys chr5 96165004 96165007 VAR_012779 - Q9NZ08:p.Arg127Pro chr5 96156591 96156594 VAR_012780 - Q9NZ08:p.Ile276Met chr5 96155297 96155300 VAR_012781 - Q9NZ08:p.Gly346Asp chr5 96155288 96155291 VAR_012782 - Q9NZ08:p.Met349Val chr5 96150084 96150087 VAR_012783 - Q9NZ08:p.Lys528Arg chr5 96147963 96147966 VAR_021555 - Q9NZ08:p.Asp575Asn chr5 96144620 96144623 VAR_021556 - Q9NZ08:p.Arg725Gln chr5 96144605 96144608 VAR_012784 - Q9NZ08:p.Gln730Glu chr19 50609967 50609970 VAR_032776 - P07992:p.Phe231Leu chr19 50608819 50608822 VAR_019167 - P07992:p.Ala266Thr chr19 50564209 50564212 VAR_008187 - P18074:p.Gly47Arg chr19 50564045 50564048 VAR_017282 - P18074:p.Thr76Ala chr19 50563751 50563754 VAR_003622 - P18074:p.Arg112His chr19 50559642 50559645 VAR_011412 - P18074:p.Ile199Met chr19 50559636 50559639 VAR_011413 - P18074:p.His201Tyr chr19 50559537 50559540 VAR_008188 - P18074:p.Asp234Asn chr19 50559370 50559373 VAR_008189 - P18074:p.Cys259Tyr chr19 50559096 50559099 VAR_011414 - P18074:p.Asp312Asn chr19 50552463 50552466 VAR_003623 - P18074:p.Leu461Val chr19 50552400 50552403 VAR_008190 - P18074:p.482del chr19 50552391 50552394 VAR_017283 - P18074:p.Leu485Pro chr19 50552385 50552388 VAR_017284 - P18074:p.Arg487Gly chr19 50552367 50552385 VAR_003624 - P18074:p.488_493del chr19 50550772 50550775 VAR_017285 - P18074:p.Arg511Gln chr19 50549869 50549872 VAR_003625 - P18074:p.Ser541Arg chr19 50549866 50549869 VAR_008191 - P18074:p.Tyr542Cys chr19 50548348 50548354 VAR_017286 - P18074:p.Glu582_Lys583delinsValSerGlu chr19 50548235 50548238 VAR_017287 - P18074:p.Arg592Pro chr19 50548229 50548232 VAR_017288 - P18074:p.Ala594Pro chr19 50548208 50548211 VAR_008192 - P18074:p.Arg601Leu chr19 50548208 50548211 VAR_017289 - P18074:p.Arg601Trp chr19 50548205 50548208 VAR_003627 - P18074:p.Gly602Asp chr19 50547897 50547900 VAR_011415 - P18074:p.Arg616Cys chr19 50547897 50547900 VAR_003626 - P18074:p.Arg616Pro chr19 50547897 50547900 VAR_008193 - P18074:p.Arg616Trp chr19 50547675 50547678 VAR_008194 - P18074:p.Arg658Cys chr19 50547675 50547678 VAR_017290 - P18074:p.Arg658Gly chr19 50547675 50547678 VAR_008195 - P18074:p.Arg658His chr19 50547660 50547663 VAR_017291 - P18074:p.Cys663Arg chr19 50547651 50547654 VAR_017292 - P18074:p.Arg666Trp chr19 50547630 50547633 VAR_008196 - P18074:p.Asp673Gly chr19 50547624 50547627 VAR_003628 - P18074:p.Gly675Arg chr19 50547606 50547609 VAR_017293 - P18074:p.Asp681Asn chr19 50547447 50547450 VAR_008197 - P18074:p.Arg683Gln chr19 50547447 50547450 VAR_008198 - P18074:p.Arg683Trp chr19 50547357 50547360 VAR_008199 - P18074:p.Gly713Arg chr19 50547306 50547351 VAR_003629 - P18074:p.716_730del chr19 50547330 50547333 VAR_003630 - P18074:p.Arg722Trp chr19 50547321 50547324 VAR_003631 - P18074:p.Ala725Pro chr19 50546756 50546759 VAR_011416 - P18074:p.Lys751Gln chr2 127766589 127766592 VAR_003632 - P19447:p.Phe99Ser chr2 127766535 127766538 VAR_014766 - P19447:p.Lys117Arg chr2 127766529 127766532 VAR_008186 - P19447:p.Thr119Pro chr2 127760644 127760647 VAR_014767 - P19447:p.Gly402Cys chr2 127760596 127760599 VAR_035942 - P19447:p.Lys418Gln chr2 127733206 127733209 VAR_017294 - P19447:p.Ser704Leu chr2 127733113 127733116 VAR_014344 - P19447:p.Ser735Pro chr10 50402716 50402719 VAR_001216 - Q03468:p.Lys255Thr chr10 50402284 50402287 VAR_001217 - Q03468:p.Gly399Asp chr10 50402206 50402209 VAR_016301 - Q03468:p.Asp425Ala chr10 50402143 50402146 VAR_016302 - Q03468:p.Gly446Asp chr10 50371216 50371219 VAR_036021 - Q03468:p.Pro591Ala chr10 50361433 50361436 VAR_036022 - Q03468:p.Arg652Leu chr10 50360897 50360900 VAR_001218 - Q03468:p.Arg670Trp chr10 50352123 50352126 VAR_001219 - Q03468:p.Trp851Arg chr10 50350963 50350966 VAR_016303 - Q03468:p.Thr942Met chr10 50350480 50350483 VAR_001220 - Q03468:p.Val957Gly chr10 50349090 50349093 VAR_016304 - Q03468:p.Tyr1002Cys chr10 50348897 50348900 VAR_036023 - Q03468:p.Arg1038Thr chr10 50348885 50348888 VAR_001221 - Q03468:p.Pro1042Leu chr10 50348726 50348729 VAR_001222 - Q03468:p.Pro1095Arg chr10 50348720 50348723 VAR_001223 - Q03468:p.Met1097Val chr10 50348654 50348657 VAR_036024 - Q03468:p.Glu1119Gln chr10 50348654 50348657 VAR_036025 - Q03468:p.Glu1119Val chr10 50348372 50348375 VAR_001224 - Q03468:p.Arg1213Gly chr10 50348351 50348354 VAR_037436 - Q03468:p.Thr1220Ile chr10 50348321 50348324 VAR_016305 - Q03468:p.Arg1230Pro chr10 50339462 50339465 VAR_016306 - Q03468:p.Val1308Leu chr10 50339420 50339423 VAR_016307 - Q03468:p.Gly1322Val chr10 50337283 50337286 VAR_037437 - Q03468:p.Asp1355Glu chr10 50337232 50337235 VAR_016308 - Q03468:p.Gly1372Arg chr10 50337202 50337205 VAR_016309 - Q03468:p.Gly1382Arg chr10 50337118 50337121 VAR_016310 - Q03468:p.Gly1410Arg chr10 50337109 50337112 VAR_001225 - Q03468:p.Gln1413Arg chr10 50337025 50337028 VAR_016311 - Q03468:p.Thr1441Ile chr5 60236376 60236379 VAR_025380 - Q13216:p.Ala160Val chr5 60234042 60234045 VAR_016319 - Q13216:p.Tyr200Cys chr5 60234027 60234030 VAR_025381 - Q13216:p.Ala205Pro chr22 37201959 37201962 VAR_014506 + O43731:p.Val199Gly chr4 75610255 75610258 VAR_035833 + O14944:p.Gly42Ala chr4 75615488 75615491 VAR_033827 + O14944:p.Arg147Gln chr11 64639363 64639366 VAR_012716 + O76062:p.Thr299Ile chr21 46435478 46435481 VAR_021522 - P48449:p.Leu642Val chr8 608760 608763 VAR_035915 - Q86X53:p.Leu365Phe chr9 5822895 5822898 VAR_028945 - Q7Z2K6:p.Ser44Asn chr1 213239134 213239137 VAR_019229 - P62508:p.Thr50Met chr21 44378022 44378025 VAR_027920 + P30042:p.Val6Ala chr21 44384572 44384575 VAR_027921 + P30042:p.Val148Met chr21 44389193 44389196 VAR_020441 + P30042:p.Leu248Val chr1 110013299 110013302 VAR_026580 - Q8TE67:p.Gly163Ser chr1 110012480 110012483 VAR_026581 - Q8TE67:p.His293Tyr chr1 110011730 110011733 VAR_026582 - Q8TE67:p.Pro356Ser chr18 17408139 17408142 VAR_022648 - Q5FWF5:p.Thr221Met chr8 27689981 27689984 VAR_033840 + Q56NI9:p.Ala80Val chr8 27713093 27713096 VAR_022649 + Q56NI9:p.Trp539Gly chr20 13695439 13695442 VAR_024331 - Q9H501:p.Ile550Thr chr19 53211050 53211053 VAR_036760 + Q96BH3:p.Cys100Trp chr19 53214939 53214942 VAR_036761 + Q96BH3:p.Asp170Asn chr19 53217366 53217369 VAR_036763 + Q96BH3:p.Asp215Asn chr2 238795309 238795312 VAR_037535 + Q6ZVH7:p.Arg167Gln chr2 238821056 238821059 VAR_037536 + Q6ZVH7:p.Ile568Val chr2 238821074 238821077 VAR_037537 + Q6ZVH7:p.Ala574Ser chr2 238821839 238821842 VAR_037539 + Q6ZVH7:p.Gln829Arg chr6 152221176 152221179 VAR_033028 + P03372:p.His6Tyr chr6 152221389 152221392 VAR_018905 + P03372:p.Gly77Ser chr6 152255870 152255873 VAR_004671 + P03372:p.Gly160Cys chr6 152357450 152357453 VAR_033029 + P03372:p.Met264Ile chr6 152357750 152357753 VAR_004672 + P03372:p.Val364Glu chr6 152425005 152425008 VAR_004673 + P03372:p.Gly400Val chr6 152425038 152425041 VAR_010143 + P03372:p.Asp411Arg chr17 2149923 2149926 VAR_018499 - Q86US8:p.Arg291Pro chr17 2149914 2149917 VAR_018500 - Q86US8:p.Lys294Gln chr17 2149773 2149776 VAR_018501 - Q86US8:p.Asn341Thr chr17 2038512 2038515 VAR_018502 - Q86US8:p.Ala972Thr chr17 1918957 1918960 VAR_018503 - Q86US8:p.His1233Arg chr16 54420382 54420384 VAR_002357 - P23141:p.Gly18Gly chr16 54424416 54424417 VAR_002357 - P23141:p.Gly18Gly chr16 54420211 54420214 VAR_014314 - P23141:p.Ser75Asn chr16 54412873 54412876 VAR_014594 - P23141:p.Arg199His chr16 54412861 54412864 VAR_014595 - P23141:p.Asp203Glu chr16 54402420 54402423 VAR_002358 - P23141:p.362del chr13 46252100 46252103 VAR_005202 - P10768:p.Gly190Glu chr13 46243629 46243632 VAR_022275 - P10768:p.Gly257Asp chr12 54818275 54818278 VAR_038190 + Q9BSJ8:p.Arg764Cys chr3 139661571 139661574 VAR_038117 + A0FGR9:p.Pro246Gln chr3 139669671 139669674 VAR_038118 + A0FGR9:p.Gly416Arg chr15 74371829 74371832 VAR_002366 - P13804:p.Gly116Arg chr15 74365857 74365860 VAR_002367 - P13804:p.Val157Gly chr15 74365815 74365818 VAR_008547 - P13804:p.Thr171Ile chr15 74353825 74353828 VAR_002368 - P13804:p.Thr266Met chr19 56545448 56545451 VAR_025804 - P38117:p.Asp128Asn chr19 56542100 56542103 VAR_008548 - P38117:p.Thr154Met chr19 56542070 56542073 VAR_002369 - P38117:p.Arg164Gln chr19 48722618 48722621 VAR_023395 - O95571:p.Tyr38Cys chr19 48707525 48707528 VAR_023396 - O95571:p.Thr136Ala chr19 48707444 48707447 VAR_023397 - O95571:p.Arg163Trp chr19 48704806 48704809 VAR_023398 - O95571:p.Leu185Arg chr12 11928665 11928668 VAR_034600 + P41212:p.Tyr344Tyr chr6 36447112 36447115 VAR_020314 - Q9Y603:p.Pro212Leu chr21 18091082 18091085 VAR_011631 - Q9NYK6:p.Gln117Arg chr21 18091025 18091028 VAR_011632 - Q9NYK6:p.Asp136Glu chr4 5839091 5839094 VAR_009942 + P57679:p.Gln74Pro chr4 5849144 5849147 VAR_033852 + P57679:p.Ala114Val chr4 5861583 5861586 VAR_009943 + P57679:p.Tyr258His chr4 5865119 5865122 VAR_009944 + P57679:p.Ser307Pro chr4 5872649 5872652 VAR_033853 + P57679:p.Thr372Met chr4 5872742 5872745 VAR_009945 + P57679:p.Gly403Ser chr4 5873594 5873597 VAR_009946 + P57679:p.Arg443Gln chr4 5873612 5873615 VAR_009947 + P57679:p.Thr449Lys chr4 5903512 5903515 VAR_009948 + P57679:p.Arg576Gln chr4 5918564 5918567 VAR_009949 + P57679:p.Arg760Gln chr4 5930211 5930214 VAR_009950 + P57679:p.Asp953Gly chr4 5930247 5930249 VAR_009951 + P57679:p.965del chr4 5930751 5930752 VAR_009951 + P57679:p.965del chr1 92785248 92785251 VAR_028891 - O60447:p.Gln612His chr14 99664688 99664691 VAR_036464 + Q9UI08:p.Pro188Leu chr14 99665679 99665682 VAR_036465 + Q9UI08:p.Pro247Leu chr17 71531747 71531750 VAR_024579 - Q92817:p.Asn49Ser chr17 71526261 71526264 VAR_033863 - Q92817:p.Gln433Arg chr19 50419896 50419899 VAR_036961 - Q2M3D2:p.Asn173Asp chr1 238339846 238339849 VAR_024966 + Q9UQ84:p.Val27Ala chr1 238341698 238341701 VAR_024967 + Q9UQ84:p.Val76Ile chr1 238341749 238341752 VAR_024968 + Q9UQ84:p.Arg93Gly chr1 238342743 238342746 VAR_024969 + Q9UQ84:p.Glu109Lys chr1 238346690 238346693 VAR_024970 + Q9UQ84:p.Ala137Ser chr1 238349937 238349940 VAR_024971 + Q9UQ84:p.Asn279Ser chr1 238349997 238350000 VAR_024972 + Q9UQ84:p.Asn299Ser chr1 238356190 238356193 VAR_024973 + Q9UQ84:p.His354Arg chr1 238356358 238356361 VAR_024974 + Q9UQ84:p.Leu410Arg chr1 238361388 238361391 VAR_024975 + Q9UQ84:p.Asp428Asn chr1 238361418 238361421 VAR_024976 + Q9UQ84:p.Phe438Cys chr1 238361421 238361424 VAR_024977 + Q9UQ84:p.Thr439Met chr1 238361472 238361475 VAR_024978 + Q9UQ84:p.Ser456Tyr chr1 238361478 238361481 VAR_024979 + Q9UQ84:p.Val458Met chr1 238361484 238361487 VAR_024980 + Q9UQ84:p.Val460Leu chr1 238361613 238361616 VAR_024981 + Q9UQ84:p.Arg503Thr chr1 238368341 238368344 VAR_024982 + Q9UQ84:p.Glu589Lys chr1 238368404 238368407 VAR_024983 + Q9UQ84:p.Ser610Gly chr1 238368476 238368479 VAR_024984 + Q9UQ84:p.Arg634Gln chr1 238368494 238368497 VAR_024985 + Q9UQ84:p.Pro640Ala chr1 238368494 238368497 VAR_024986 + Q9UQ84:p.Pro640Ser chr1 238368584 238368587 VAR_024987 + Q9UQ84:p.Glu670Gly chr1 238371315 238371318 VAR_024988 + Q9UQ84:p.Arg723Cys chr1 238371324 238371327 VAR_024989 + Q9UQ84:p.His726Pro chr1 238374713 238374716 VAR_024990 + Q9UQ84:p.Pro757Leu chr1 238374719 238374722 VAR_024991 + Q9UQ84:p.Gly759Glu chr1 238374752 238374755 VAR_024992 + Q9UQ84:p.Pro770Leu chr1 238378880 238378883 VAR_024993 + Q9UQ84:p.Ala827Val chr16 65780326 65780329 VAR_037002 - Q86VI1:p.Tyr75Asn chr16 65776848 65776851 VAR_037003 - Q86VI1:p.Ala514Asp chr16 65776605 65776608 VAR_036959 - Q86VI1:p.Gln561Glu chr16 65776308 65776311 VAR_036960 - Q86VI1:p.Ser634Gly chr7 132459293 132459296 VAR_036292 + Q96A65:p.Ser220Phe chr7 133037666 133037669 VAR_036293 + Q96A65:p.Ala599Thr chr19 46595058 46595061 VAR_030788 - Q9NQT4:p.Thr5Met chr8 119192385 119192388 VAR_012815 - Q16394:p.Gln27Lys chr8 119191974 119191977 VAR_012816 - Q16394:p.Asp164His chr8 119191800 119191824 VAR_012818 - Q16394:p.Met215_Ser222delinsIle chr8 119191803 119191824 VAR_012817 - Q16394:p.215_221del chr8 119191749 119191764 VAR_012819 - Q16394:p.235_239del chr8 119191626 119191629 VAR_002370 - Q16394:p.Arg280Gly chr8 119191626 119191629 VAR_002371 - Q16394:p.Arg280Ser chr8 119191518 119191521 VAR_012820 - Q16394:p.Asn316Ser chr8 118918566 118918569 VAR_002372 - Q16394:p.Gly339Asp chr8 118918563 118918566 VAR_002373 - Q16394:p.Arg340Cys chr8 118918563 118918566 VAR_002374 - Q16394:p.Arg340His chr8 118918563 118918566 VAR_002375 - Q16394:p.Arg340Leu chr8 118918563 118918566 VAR_002376 - Q16394:p.Arg340Ser chr8 118901173 118901176 VAR_012821 - Q16394:p.Ala486Val chr8 118901143 118901146 VAR_012822 - Q16394:p.Pro496Leu chr8 118888638 118888641 VAR_002377 - Q16394:p.627del chr11 44085961 44085964 VAR_033921 + Q93063:p.Met42Val chr11 44086090 44086093 VAR_012823 + Q93063:p.Cys85Arg chr11 44086291 44086294 VAR_012824 + Q93063:p.Leu152Arg chr11 44086372 44086374 VAR_012825 + Q93063:p.Arg179Ser chr11 44087319 44087320 VAR_012825 + Q93063:p.Arg179Ser chr11 44087386 44087389 VAR_012826 + Q93063:p.Ala202Val chr11 44092350 44092353 VAR_012827 + Q93063:p.Arg223Pro chr11 44092362 44092365 VAR_002378 + Q93063:p.Asp227Asn chr11 44108228 44108231 VAR_012828 + Q93063:p.Ile380Thr chr11 44210541 44210544 VAR_012829 + Q93063:p.Glu576Lys chr1 26041797 26041800 VAR_012830 + Q92935:p.His379Asn chr8 72429634 72429637 VAR_024439 - Q99502:p.Pro20Ala chr8 72319442 72319445 VAR_016864 - Q99502:p.Glu363Lys chr8 72291562 72291565 VAR_016865 - Q99502:p.Gly426Ser chr8 72291553 72291556 VAR_016866 - Q99502:p.Asp429Gly chr8 72291520 72291523 VAR_016867 - Q99502:p.Arg440Gln chr8 72290416 72290419 VAR_005203 - Q99502:p.Ser487Pro chr8 72290257 72290260 VAR_005204 - Q99502:p.Leu505Arg chr8 72286001 72286004 VAR_016868 - Q99502:p.Arg547Gly chr8 72274158 72274161 VAR_016869 - Q99502:p.Leu583Pro chr6 133825181 133825184 VAR_036248 + O95677:p.Leu152Arg chr6 133831420 133831423 VAR_022932 + O95677:p.Gly277Ser chr6 133831492 133831495 VAR_036249 + O95677:p.Asp301Asn chr5 14663306 14663309 VAR_030281 + Q9NUU6:p.Phe319Leu chr5 14743231 14743234 VAR_029469 + Q96BN8:p.Ser227Asn chr3 58530582 58530585 VAR_017238 - O95990:p.Leu15Met chr3 58530570 58530573 VAR_017239 - O95990:p.Pro19Leu chr9 71714692 71714695 VAR_031230 - Q5VST6:p.Gln169Lys chr22 40798358 40798361 VAR_028822 + Q6ICB4:p.Ala188Gly chr22 39547689 39547692 VAR_011900 - P50502:p.Met297Ile chr13 49644435 49644438 VAR_023644 + Q8IZP2:p.Ser71Leu chr8 59221982 59221985 VAR_036319 + Q8TC76:p.Ala214Ser chr20 2768492 2768495 VAR_021945 - Q9H1Q7:p.Gln22His chr12 56452855 56452858 VAR_032869 + Q96AZ1:p.Ser28Leu chr13 50724044 50724047 VAR_032098 + Q86V42:p.Asp181His chr3 185545229 185545232 VAR_036118 + Q6UXB0:p.Ser260Asn chr2 219872343 219872346 VAR_033720 + Q8NC44:p.Arg374His chr2 219872478 219872481 VAR_022835 + Q8NC44:p.Pro419Gln chr5 16528206 16528209 VAR_032422 - Q9H6L5:p.Gln379Glu chr9 18940892 18940895 VAR_023229 - Q8IYX7:p.Lys27Glu chr9 18940784 18940787 VAR_023230 - Q8IYX7:p.Pro63Ser chr9 94429218 94429221 VAR_024448 - O00757:p.Val86Leu chr17 15399379 15399382 VAR_024929 - Q96ET8:p.Asp12Ala chr3 48551023 48551026 VAR_036075 - Q16877:p.Asn181Lys chr7 127953082 127953085 VAR_037271 + Q96KD3:p.Ser228Leu chr7 127957237 127957240 VAR_037272 + Q96KD3:p.Glu242Lys chr7 127909832 127909835 VAR_037267 + Q6NXP2:p.Pro112Thr chr7 127911608 127911611 VAR_037269 + Q6NXP2:p.Arg136Trp chr7 127916984 127916987 VAR_037270 + Q6NXP2:p.Ile251Val chr13 112825188 112825191 VAR_014162 + P00742:p.Leu7Ile chr13 112831783 112831786 VAR_014163 + P00742:p.Gln30His chr13 112843316 112843319 VAR_020176 + P00742:p.Ala152Thr chr13 112846236 112846239 VAR_020177 + P00742:p.Gly192Arg chr4 187567955 187567958 VAR_012085 + P03951:p.Asp34His chr4 187568051 187568054 VAR_011774 + P03951:p.Pro66Leu chr4 187572667 187572670 VAR_011775 + P03951:p.Gln244Arg chr4 187572673 187572676 VAR_012086 + P03951:p.Trp246Cys chr4 187576354 187576357 VAR_012087 + P03951:p.Ser266Asn chr4 187576560 187576563 VAR_006622 + P03951:p.Phe301Leu chr4 187576581 187576584 VAR_011776 + P03951:p.Ile308Phe chr4 187576617 187576620 VAR_012088 + P03951:p.Leu320Pro chr4 187576623 187576626 VAR_012089 + P03951:p.Thr322Ile chr4 187576635 187576638 VAR_012090 + P03951:p.Arg326Cys chr4 187576674 187576677 VAR_011777 + P03951:p.Cys339Phe chr4 187576680 187576683 VAR_012091 + P03951:p.Glu341Lys chr4 187580453 187580456 VAR_011778 + P03951:p.Trp399Arg chr4 187580468 187580471 VAR_012092 + P03951:p.Thr404Asn chr4 187580546 187580549 VAR_012093 + P03951:p.Ala430Val chr4 187582013 187582016 VAR_012094 + P03951:p.Phe460Val chr4 187582112 187582115 VAR_012095 + P03951:p.Thr493Ile chr4 187584818 187584821 VAR_012096 + P03951:p.Ser594Arg chr5 176765624 176765627 VAR_014426 - P00748:p.Tyr53Cys chr5 176764763 176764766 VAR_031500 - P00748:p.Arg142Pro chr5 176763836 176763839 VAR_031501 - P00748:p.Thr328Lys chr5 176763836 176763839 VAR_031502 - P00748:p.Thr328Arg chr5 176763689 176763692 VAR_029191 - P00748:p.Pro342Gln chr5 176763599 176763602 VAR_006623 - P00748:p.Arg372Pro chr5 176763482 176763485 VAR_031503 - P00748:p.Ala411Thr chr5 176763473 176763476 VAR_031504 - P00748:p.Leu414Met chr5 176763154 176763157 VAR_031506 - P00748:p.Gln440Lys chr5 176763091 176763094 VAR_031507 - P00748:p.Asp461Asn chr5 176762876 176762879 VAR_031508 - P00748:p.Trp505Cys chr5 176762201 176762204 VAR_014337 - P00748:p.Gly545Asp chr5 176761979 176761982 VAR_031509 - P00748:p.Gly589Arg chr5 176761976 176761979 VAR_006624 - P00748:p.Cys590Ser chr5 176761931 176761934 VAR_014338 - P00748:p.Tyr605His chr10 105197288 105197291 VAR_033924 - Q9HA72:p.Val194Met chr10 105208240 105208243 VAR_023095 - Q8IU99:p.Leu86Pro chr9 19048742 19048745 VAR_024926 - Q7Z4H7:p.His674Gln chr9 19048481 19048484 VAR_024927 - Q7Z4H7:p.Ser761Ile chr16 73331493 73331496 VAR_037503 - Q7L5A8:p.Pro97Ala chr18 10671708 10671711 VAR_033925 - Q9H5I5:p.Val255Ile chr6 82518433 82518463 VAR_028977 - Q96IP4:p.39_48del chr6 82518433 82518448 VAR_028978 - Q96IP4:p.44_48del chrX 79504735 79504738 VAR_028980 + Q8NEK8:p.Asp185Glu chr8 130935702 130935705 VAR_019704 - Q9NUQ9:p.Asn169Lys chr11 113898058 113898061 VAR_036712 - Q8N323:p.Gly353Arg chr11 114074150 114074153 VAR_034647 + Q96DL1:p.Val103Ala chr18 28121828 28121831 VAR_030580 - Q9H706:p.Thr243Asn chr18 28121684 28121687 VAR_030581 - Q9H706:p.Lys291Arg chr18 28121087 28121090 VAR_030582 - Q9H706:p.Ala490Val chrX 119176621 119176624 VAR_029637 - Q5JRV8:p.Pro345Gln chr1 209186677 209186680 VAR_029464 + Q8IYT1:p.Asn22Asp chr1 209187370 209187373 VAR_029465 + Q8IYT1:p.Asn253Ser chr1 209187568 209187571 VAR_029466 + Q8IYT1:p.Gly319Asp chr1 209188264 209188267 VAR_029467 + Q8IYT1:p.Asn551Asp chr1 209188342 209188345 VAR_029468 + Q8IYT1:p.Thr577Met chr12 98544507 98544510 VAR_029638 + Q8NEG0:p.Arg30Gly chr12 98544630 98544633 VAR_029639 + Q8NEG0:p.Met71Val chr9 128884271 128884274 VAR_037690 + Q7L4E1:p.Glu78Lys chr9 128884337 128884340 VAR_037691 + Q7L4E1:p.Val100Ala chr9 128891754 128891757 VAR_037692 + Q7L4E1:p.Gly212Ser chr13 112808192 112808195 VAR_014391 + P08709:p.Leu13Pro chr13 112813063 112813066 VAR_015135 + P08709:p.Phe64Leu chr13 112813090 112813093 VAR_014405 + P08709:p.Leu73Gln chr13 112813108 112813111 VAR_014406 + P08709:p.Glu79Gln chr13 112816202 112816205 VAR_015136 + P08709:p.Ser120Pro chr13 112816205 112816208 VAR_014407 + P08709:p.Cys121Phe chr13 112816217 112816220 VAR_014408 + P08709:p.Leu125Pro chr13 112816226 112816229 VAR_014409 + P08709:p.Tyr128Cys chr13 112816259 112816262 VAR_006497 + P08709:p.Arg139Lys chr13 112816259 112816262 VAR_006498 + P08709:p.Arg139Gln chr13 112816259 112816262 VAR_006499 + P08709:p.Arg139Trp chr13 112817994 112817997 VAR_014410 + P08709:p.Cys151Ser chr13 112818003 112818006 VAR_015137 + P08709:p.Glu154Lys chr13 112818012 112818015 VAR_006501 + P08709:p.Gly157Cys chr13 112818012 112818015 VAR_006500 + P08709:p.Gly157Ser chr13 112818012 112818015 VAR_014411 + P08709:p.Gly157Val chr13 112818021 112818024 VAR_006502 + P08709:p.Gln160Arg chr13 112819088 112819091 VAR_006503 + P08709:p.Pro194Thr chr13 112819091 112819094 VAR_014412 + P08709:p.Cys195Arg chr13 112819097 112819100 VAR_006504 + P08709:p.Lys197Glu chr13 112819142 112819145 VAR_006505 + P08709:p.Arg212Gln chr13 112819154 112819157 VAR_015138 + P08709:p.Gly216Asp chr13 112819817 112819820 VAR_006506 + P08709:p.Cys238Tyr chr13 112819826 112819829 VAR_014413 + P08709:p.Thr241Asn chr13 112819865 112819868 VAR_015139 + P08709:p.Cys254Tyr chr13 112819901 112819904 VAR_015140 + P08709:p.Ala266Thr chr13 112820768 112820771 VAR_006507 + P08709:p.Arg283Trp chr13 112820804 112820807 VAR_013936 + P08709:p.Val295Asp chr13 112820825 112820828 VAR_014414 + P08709:p.Asp302His chr13 112820825 112820828 VAR_014415 + P08709:p.Asp302Asn chr13 112820831 112820834 VAR_014416 + P08709:p.Ala304Thr chr13 112820831 112820834 VAR_006508 + P08709:p.Ala304Val chr13 112820840 112820843 VAR_014417 + P08709:p.Arg307Cys chr13 112820840 112820843 VAR_006509 + P08709:p.Arg307His chr13 112820855 112820858 VAR_015141 + P08709:p.Val312Met chr13 112820894 112820897 VAR_006510 + P08709:p.Glu325Lys chr13 112820915 112820918 VAR_014418 + P08709:p.Thr332Met chr13 112820942 112820945 VAR_015142 + P08709:p.Val341Phe chr13 112820975 112820978 VAR_013122 + P08709:p.Ala352Thr chr13 112820981 112820984 VAR_006511 + P08709:p.Ala354Val chr13 112820993 112820996 VAR_006512 + P08709:p.Met358Ile chr13 112820993 112820996 VAR_006513 + P08709:p.Met358Val chr13 112821008 112821011 VAR_015143 + P08709:p.Pro363Arg chr13 112821011 112821014 VAR_006514 + P08709:p.Arg364Gln chr13 112821020 112821023 VAR_018671 + P08709:p.Thr367Ser chr13 112821029 112821032 VAR_006515 + P08709:p.Cys370Phe chr13 112821086 112821089 VAR_014392 + P08709:p.Cys389Gly chr13 112821092 112821095 VAR_014419 + P08709:p.Gly391Ser chr13 112821125 112821128 VAR_006517 + P08709:p.Gly402Glu chr13 112821125 112821128 VAR_006516 + P08709:p.Gly402Arg chr13 112821128 112821131 VAR_015144 + P08709:p.Asp403His chr13 112821158 112821161 VAR_006518 + P08709:p.Arg413Gln chr13 112821176 112821179 VAR_006519 + P08709:p.Thr419Met chr13 112821224 112821227 VAR_014420 + P08709:p.Gly435Glu chr13 112821254 112821257 VAR_013123 + P08709:p.Glu445Lys chr8 124275504 124275507 VAR_032178 + Q86UY5:p.Ala237Thr chr6 54912955 54912958 VAR_034638 + Q5T0W9:p.Asn410Ser chr6 54913030 54913033 VAR_034639 + Q5T0W9:p.Ser435Arg chr6 54913645 54913648 VAR_034640 + Q5T0W9:p.Lys640Thr chr6 54914446 54914449 VAR_034641 + Q5T0W9:p.Thr907Asn chr20 33338132 33338135 VAR_021946 - Q9BQN1:p.Arg621Gln chr19 53798805 53798808 VAR_038131 - Q2M2I3:p.Pro311Leu chr19 53798622 53798625 VAR_038132 - Q2M2I3:p.Arg372His chr22 38740465 38740468 VAR_038134 + Q8NEG4:p.Arg245Ser chr22 38742070 38742073 VAR_038135 + Q8NEG4:p.Gly353Ser chr22 38742265 38742268 VAR_038136 + Q8NEG4:p.Ala418Val chr22 38742319 38742322 VAR_038137 + Q8NEG4:p.Arg436Gly chr16 5080540 5080543 VAR_033854 - Q96G04:p.Ser123Cys chrX 153814474 153814477 VAR_028447 - P00451:p.Ser19Arg chrX 153814465 153814468 VAR_028448 - P00451:p.Arg22Thr chrX 153814459 153814462 VAR_028449 - P00451:p.Tyr24Cys chrX 153814456 153814459 VAR_028450 - P00451:p.Tyr25Cys chrX 153814453 153814456 VAR_028451 - P00451:p.Leu26Pro chrX 153814453 153814456 VAR_001045 - P00451:p.Leu26Arg chrX 153814441 153814444 VAR_001046 - P00451:p.Glu30Val chrX 153814432 153814435 VAR_028452 - P00451:p.Trp33Gly chrX 153814426 153814429 VAR_028453 - P00451:p.Tyr35Cys chrX 153814426 153814429 VAR_028454 - P00451:p.Tyr35His chrX 153814408 153814411 VAR_001047 - P00451:p.Gly41Cys chrX 153791521 153791524 VAR_028456 - P00451:p.Lys67Glu chrX 153791521 153791524 VAR_028457 - P00451:p.Lys67Asn chrX 153791515 153791518 VAR_028458 - P00451:p.Leu69Pro chrX 153791506 153791509 VAR_017330 - P00451:p.Glu72Lys chrX 153791497 153791500 VAR_028459 - P00451:p.Asp75Glu chrX 153791497 153791500 VAR_001049 - P00451:p.Asp75Val chrX 153791497 153791500 VAR_028460 - P00451:p.Asp75Tyr chrX 153791467 153791473 VAR_028461 - P00451:p.84_85del chrX 153791467 153791470 VAR_028462 - P00451:p.85del chrX 153789063 153789066 VAR_028463 - P00451:p.Gly92Ala chrX 153789063 153789066 VAR_028464 - P00451:p.Gly92Val chrX 153789048 153789051 VAR_017331 - P00451:p.Ala97Pro chrX 153789045 153789048 VAR_028465 - P00451:p.Glu98Lys chrX 153789042 153789045 VAR_001052 - P00451:p.Val99Asp chrX 153789036 153789039 VAR_028466 - P00451:p.Asp101Gly chrX 153789036 153789039 VAR_028467 - P00451:p.Asp101His chrX 153789036 153789039 VAR_028468 - P00451:p.Asp101Val chrX 153789027 153789030 VAR_001053 - P00451:p.Val104Asp chrX 153789015 153789018 VAR_001054 - P00451:p.Lys108Thr chrX 153789009 153789012 VAR_001055 - P00451:p.Met110Val chrX 153789006 153789009 VAR_028469 - P00451:p.Ala111Thr chrX 153789006 153789009 VAR_028470 - P00451:p.Ala111Val chrX 153789000 153789003 VAR_028471 - P00451:p.His113Arg chrX 153789000 153789003 VAR_028472 - P00451:p.His113Tyr chrX 153788988 153788991 VAR_028473 - P00451:p.Leu117Phe chrX 153788988 153788991 VAR_001056 - P00451:p.Leu117Arg chrX 153788976 153788979 VAR_028474 - P00451:p.Gly121Ser chrX 153788952 153788955 VAR_001057 - P00451:p.Glu129Val chrX 153785119 153785122 VAR_001059 - P00451:p.Glu132Asp chrX 153785116 153785119 VAR_001060 - P00451:p.Tyr133Cys chrX 153785110 153785113 VAR_001061 - P00451:p.Asp135Gly chrX 153785110 153785113 VAR_028475 - P00451:p.Asp135Tyr chrX 153785104 153785107 VAR_028476 - P00451:p.Thr137Ala chrX 153785104 153785107 VAR_001062 - P00451:p.Thr137Ile chrX 153785101 153785104 VAR_028477 - P00451:p.Ser138Arg chrX 153785092 153785095 VAR_028478 - P00451:p.Glu141Lys chrX 153785080 153785083 VAR_028479 - P00451:p.Asp145His chrX 153785074 153785077 VAR_028480 - P00451:p.Val147Asp chrX 153785050 153785053 VAR_017332 - P00451:p.Tyr155His chrX 153785038 153785041 VAR_028481 - P00451:p.Val159Ala chrX 153785026 153785029 VAR_028482 - P00451:p.Asn163Lys chrX 153785023 153785026 VAR_028483 - P00451:p.Gly164Asp chrX 153785023 153785026 VAR_001063 - P00451:p.Gly164Val chrX 153785020 153785023 VAR_001064 - P00451:p.Pro165Ser chrX 153784999 153785002 VAR_028484 - P00451:p.Cys172Trp chrX 153784987 153784990 VAR_028485 - P00451:p.Ser176Pro chrX 153784978 153784981 VAR_028486 - P00451:p.Ser179Pro chrX 153784972 153784975 VAR_017333 - P00451:p.Val181Glu chrX 153784972 153784975 VAR_001065 - P00451:p.Val181Met chrX 153784960 153784963 VAR_001066 - P00451:p.Lys185Thr chrX 153784957 153784960 VAR_028487 - P00451:p.Asp186Gly chrX 153784957 153784960 VAR_028488 - P00451:p.Asp186Tyr chrX 153784948 153784951 VAR_001067 - P00451:p.Ser189Leu chrX 153784936 153784939 VAR_028489 - P00451:p.Gly193Arg chrX 153784921 153784924 VAR_028490 - P00451:p.Cys198Gly chrX 153779279 153779282 VAR_028491 - P00451:p.Ser202Asn chrX 153779279 153779282 VAR_008123 - P00451:p.Ser202Arg chrX 153779243 153779246 VAR_028492 - P00451:p.Phe214Val chrX 153779234 153779237 VAR_028493 - P00451:p.Leu217His chrX 153779228 153779231 VAR_028494 - P00451:p.Ala219Asp chrX 153779228 153779231 VAR_028495 - P00451:p.Ala219Thr chrX 153779225 153779228 VAR_028496 - P00451:p.Val220Gly chrX 153779219 153779222 VAR_001068 - P00451:p.Asp222Val chrX 153779216 153779219 VAR_028497 - P00451:p.Glu223Lys chrX 153776780 153776782 VAR_001069 - P00451:p.Gly224Trp chrX 153779215 153779216 VAR_001069 - P00451:p.Gly224Trp chrX 153776696 153776699 VAR_028498 - P00451:p.Thr252Ile chrX 153776693 153776696 VAR_001070 - P00451:p.Val253Phe chrX 153776690 153776693 VAR_017334 - P00451:p.Asn254Ile chrX 153776687 153776690 VAR_015127 - P00451:p.Gly255Val chrX 153776666 153776669 VAR_028499 - P00451:p.Pro262Leu chrX 153761520 153761523 VAR_001071 - P00451:p.Gly266Glu chrX 153761517 153761520 VAR_028501 - P00451:p.Cys267Tyr chrX 153761496 153761499 VAR_028502 - P00451:p.Trp274Cys chrX 153761493 153761496 VAR_028503 - P00451:p.His275Leu chrX 153761484 153761487 VAR_001072 - P00451:p.Gly278Arg chrX 153761466 153761469 VAR_028504 - P00451:p.Glu284Lys chrX 153761463 153761466 VAR_001073 - P00451:p.Val285Gly chrX 153761445 153761448 VAR_001074 - P00451:p.Glu291Gly chrX 153761445 153761448 VAR_028505 - P00451:p.Glu291Lys chrX 153761436 153761439 VAR_001075 - P00451:p.Thr294Ile chrX 153761433 153761436 VAR_028506 - P00451:p.Phe295Leu chrX 153761427 153761430 VAR_028507 - P00451:p.Val297Ala chrX 153761421 153761424 VAR_001076 - P00451:p.Asn299Ile chrX 153761415 153761418 VAR_028508 - P00451:p.Arg301Cys chrX 153761415 153761418 VAR_001077 - P00451:p.Arg301His chrX 153761415 153761418 VAR_001078 - P00451:p.Arg301Leu chrX 153761412 153761415 VAR_028509 - P00451:p.302del chrX 153761409 153761412 VAR_028510 - P00451:p.Ala303Glu chrX 153761409 153761412 VAR_028511 - P00451:p.Ala303Pro chrX 153761397 153761400 VAR_028512 - P00451:p.Ile307Ser chrX 153761394 153761397 VAR_001079 - P00451:p.Ser308Leu chrX 153761382 153761385 VAR_001080 - P00451:p.Phe312Ser chrX 153761376 153761379 VAR_001081 - P00451:p.Thr314Ala chrX 153761376 153761379 VAR_001082 - P00451:p.Thr314Ile chrX 153761373 153761376 VAR_028513 - P00451:p.Ala315Val chrX 153761358 153761361 VAR_028514 - P00451:p.320del chrX 153761349 153761352 VAR_015128 - P00451:p.Gly323Glu chrX 153761340 153761343 VAR_028515 - P00451:p.Leu326Pro chrX 153761337 153761340 VAR_001083 - P00451:p.Leu327Pro chrX 153761337 153761340 VAR_028516 - P00451:p.Leu327Val chrX 153761331 153761334 VAR_028517 - P00451:p.Cys329Phe chrX 153761325 153761328 VAR_001084 - P00451:p.Ile331Val chrX 153758658 153758661 VAR_028518 - P00451:p.Met339Thr chrX 153758655 153758658 VAR_028519 - P00451:p.Glu340Lys chrX 153758640 153758643 VAR_028520 - P00451:p.Val345Ala chrX 153758640 153758643 VAR_001085 - P00451:p.Val345Leu chrX 153758631 153758634 VAR_001086 - P00451:p.Cys348Arg chrX 153758631 153758634 VAR_001087 - P00451:p.Cys348Ser chrX 153758631 153758634 VAR_001088 - P00451:p.Cys348Tyr chrX 153758580 153758583 VAR_028521 - P00451:p.Tyr365Cys chrX 153758502 153758505 VAR_001089 - P00451:p.Arg391Cys chrX 153758502 153758505 VAR_001090 - P00451:p.Arg391His chrX 153758502 153758505 VAR_001091 - P00451:p.Arg391Pro chrX 153758499 153758502 VAR_001092 - P00451:p.Ser392Leu chrX 153758499 153758502 VAR_001093 - P00451:p.Ser392Pro chrX 153758472 153758475 VAR_028522 - P00451:p.Trp401Gly chrX 153758460 153758463 VAR_028523 - P00451:p.Ile405Phe chrX 153758460 153758463 VAR_001094 - P00451:p.Ile405Ser chrX 153758448 153758451 VAR_001095 - P00451:p.Glu409Gly chrX 153758439 153758442 VAR_028524 - P00451:p.Trp412Gly chrX 153758439 153758442 VAR_028525 - P00451:p.Trp412Arg chrX 153758110 153758113 VAR_028526 - P00451:p.Lys427Ile chrX 153758098 153758101 VAR_001096 - P00451:p.Leu431Phe chrX 153758098 153758101 VAR_028527 - P00451:p.Leu431Ser chrX 153758080 153758083 VAR_028528 - P00451:p.Arg437Pro chrX 153758080 153758083 VAR_028529 - P00451:p.Arg437Trp chrX 153758077 153758080 VAR_028530 - P00451:p.Ile438Phe chrX 153758074 153758077 VAR_028531 - P00451:p.Gly439Asp chrX 153758074 153758077 VAR_017335 - P00451:p.Gly439Ser chrX 153758074 153758077 VAR_001097 - P00451:p.Gly439Val chrX 153758065 153758068 VAR_028532 - P00451:p.Tyr442Cys chrX 153758059 153758062 VAR_001098 - P00451:p.Lys444Arg chrX 153758041 153758044 VAR_028533 - P00451:p.Tyr450Asp chrX 153758041 153758044 VAR_001099 - P00451:p.Tyr450Asn chrX 153758029 153758032 VAR_028534 - P00451:p.Thr454Ile chrX 153758026 153758029 VAR_028535 - P00451:p.Phe455Cys chrX 153757993 153757996 VAR_028536 - P00451:p.Gly466Glu chrX 153757981 153757984 VAR_028537 - P00451:p.Pro470Leu chrX 153757981 153757984 VAR_028538 - P00451:p.Pro470Arg chrX 153757981 153757984 VAR_028539 - P00451:p.Pro470Thr chrX 153757969 153757972 VAR_028540 - P00451:p.Gly474Glu chrX 153757969 153757972 VAR_001100 - P00451:p.Gly474Arg chrX 153757966 153757969 VAR_028541 - P00451:p.Glu475Lys chrX 153757960 153757963 VAR_028542 - P00451:p.Gly477Val chrX 153757957 153757960 VAR_028543 - P00451:p.Asp478Asn chrX 153757954 153757957 VAR_028544 - P00451:p.Thr479Arg chrX 153753138 153753141 VAR_028545 - P00451:p.Phe484Cys chrX 153753126 153753129 VAR_001101 - P00451:p.Ala488Gly chrX 153753120 153753123 VAR_028546 - P00451:p.Arg490Gly chrX 153753114 153753117 VAR_001103 - P00451:p.Tyr492Cys chrX 153753114 153753117 VAR_001102 - P00451:p.Tyr492His chrX 153753108 153753111 VAR_001104 - P00451:p.Ile494Thr chrX 153753096 153753099 VAR_001105 - P00451:p.Gly498Arg chrX 153753081 153753084 VAR_028547 - P00451:p.Arg503His chrX 153749121 153749124 VAR_028549 - P00451:p.Ile522Tyr chrX 153749100 153749103 VAR_017336 - P00451:p.Lys529Glu chrX 153749091 153749094 VAR_028550 - P00451:p.Trp532Gly chrX 153749067 153749070 VAR_028551 - P00451:p.Pro540Thr chrX 153749064 153749067 VAR_028552 - P00451:p.Thr541Ser chrX 153749055 153749058 VAR_001106 - P00451:p.Asp544Asn chrX 153749049 153749052 VAR_001107 - P00451:p.Arg546Trp chrX 153749037 153749040 VAR_001108 - P00451:p.Arg550Cys chrX 153749037 153749040 VAR_001109 - P00451:p.Arg550Gly chrX 153749037 153749040 VAR_001110 - P00451:p.Arg550His chrX 153749028 153749031 VAR_028553 - P00451:p.Ser553Pro chrX 153749025 153749028 VAR_028554 - P00451:p.Ser554Cys chrX 153749025 153749028 VAR_001111 - P00451:p.Ser554Gly chrX 153749019 153749022 VAR_001112 - P00451:p.Val556Asp chrX 153749007 153749010 VAR_028555 - P00451:p.Arg560Thr chrX 153749004 153749007 VAR_028556 - P00451:p.Asp561Gly chrX 153749004 153749007 VAR_028557 - P00451:p.Asp561His chrX 153749004 153749007 VAR_008967 - P00451:p.Asp561Tyr chrX 153748986 153748989 VAR_017337 - P00451:p.Ile567Thr chrX 153748956 153748959 VAR_001113 - P00451:p.Ser577Phe chrX 153748953 153748956 VAR_028558 - P00451:p.Val578Ala chrX 153748950 153748953 VAR_028559 - P00451:p.Asp579Ala chrX 153748950 153748953 VAR_028560 - P00451:p.Asp579His chrX 153748938 153748941 VAR_028561 - P00451:p.Asn583Ser chrX 153748935 153748938 VAR_028562 - P00451:p.Gln584His chrX 153748935 153748938 VAR_001114 - P00451:p.Gln584Lys chrX 153748935 153748938 VAR_028563 - P00451:p.Gln584Arg chrX 153746018 153746021 VAR_028564 - P00451:p.Ile585Arg chrX 153746018 153746021 VAR_001115 - P00451:p.Ile585Thr chrX 153746015 153746018 VAR_015129 - P00451:p.Met586Val chrX 153746009 153746012 VAR_028565 - P00451:p.Asp588Gly chrX 153746009 153746012 VAR_028566 - P00451:p.Asp588Tyr chrX 153745991 153745994 VAR_028567 - P00451:p.Leu594Gln chrX 153745985 153745988 VAR_001116 - P00451:p.Ser596Pro chrX 153745970 153745973 VAR_028568 - P00451:p.Asn601Asp chrX 153745970 153745973 VAR_028569 - P00451:p.Asn601Lys chrX 153745967 153745970 VAR_028570 - P00451:p.Arg602Gly chrX 153745964 153745967 VAR_001117 - P00451:p.Ser603Ile chrX 153745964 153745967 VAR_028571 - P00451:p.Ser603Arg chrX 153745961 153745964 VAR_001118 - P00451:p.Trp604Cys chrX 153745958 153745961 VAR_028572 - P00451:p.Tyr605His chrX 153745958 153745961 VAR_001119 - P00451:p.Tyr605Ser chrX 153745946 153745949 VAR_028573 - P00451:p.Asn609Ile chrX 153745937 153745940 VAR_001120 - P00451:p.Arg612Cys chrX 153745880 153745883 VAR_001121 - P00451:p.Asn631Lys chrX 153745880 153745883 VAR_001122 - P00451:p.Asn631Ser chrX 153745874 153745877 VAR_028574 - P00451:p.Met633Ile chrX 153739878 153739881 VAR_028576 - P00451:p.Asn637Asp chrX 153739878 153739881 VAR_028577 - P00451:p.Asn637Ser chrX 153739872 153739875 VAR_028578 - P00451:p.Tyr639Cys chrX 153739857 153739860 VAR_001123 - P00451:p.Leu644Val chrX 153739839 153739842 VAR_028579 - P00451:p.Leu650Phe chrX 153739830 153739833 VAR_001124 - P00451:p.Val653Ala chrX 153739830 153739833 VAR_001125 - P00451:p.Val653Met chrX 153739812 153739815 VAR_028580 - P00451:p.Leu659Pro chrX 153739800 153739803 VAR_001126 - P00451:p.Ala663Val chrX 153739797 153739800 VAR_028581 - P00451:p.Gln664Pro chrX 153739776 153739779 VAR_001127 - P00451:p.671del chrX 153739758 153739761 VAR_001128 - P00451:p.Phe677Leu chrX 153739746 153739749 VAR_028582 - P00451:p.Met681Ile chrX 153739743 153739746 VAR_028583 - P00451:p.Val682Phe chrX 153739740 153739743 VAR_028584 - P00451:p.Tyr683Cys chrX 153739740 153739743 VAR_028585 - P00451:p.Tyr683Asn chrX 153739731 153739734 VAR_028586 - P00451:p.Thr686Arg chrX 153739695 153739698 VAR_028587 - P00451:p.Phe698Leu chrX 153739692 153739695 VAR_028588 - P00451:p.Met699Thr chrX 153739692 153739695 VAR_001129 - P00451:p.Met699Val chrX 153739686 153739689 VAR_028589 - P00451:p.Met701Ile chrX 153723638 153723641 VAR_028591 - P00451:p.Gly710Trp chrX 153723629 153723632 VAR_028592 - P00451:p.Asn713Ile chrX 153723617 153723620 VAR_028593 - P00451:p.Arg717Leu chrX 153723617 153723620 VAR_001130 - P00451:p.Arg717Trp chrX 153723608 153723611 VAR_001131 - P00451:p.Gly720Asp chrX 153723608 153723611 VAR_028594 - P00451:p.Gly720Ser chrX 153723605 153723608 VAR_028595 - P00451:p.Met721Ile chrX 153723605 153723608 VAR_028596 - P00451:p.Met721Leu chrX 153723599 153723602 VAR_001132 - P00451:p.Ala723Thr chrX 153723593 153723596 VAR_028597 - P00451:p.Leu725Gln chrX 153723587 153723590 VAR_001133 - P00451:p.Val727Phe chrX 153723551 153723554 VAR_001134 - P00451:p.Glu739Lys chrX 153723542 153723545 VAR_028598 - P00451:p.Tyr742Cys chrX 153723383 153723386 VAR_024380 - P00451:p.Arg795Gly chrX 153722927 153722930 VAR_028599 - P00451:p.Pro947Arg chrX 153722732 153722735 VAR_028600 - P00451:p.Val1012Leu chrX 153722597 153722600 VAR_001135 - P00451:p.Glu1057Lys chrX 153722570 153722573 VAR_028601 - P00451:p.His1066Tyr chrX 153721988 153721991 VAR_001136 - P00451:p.Asp1260Glu chrX 153721760 153721763 VAR_028602 - P00451:p.Gln1336Lys chrX 153721388 153721391 VAR_028603 - P00451:p.Asn1460Lys chrX 153721325 153721328 VAR_001137 - P00451:p.Leu1481Pro chrX 153720938 153720941 VAR_028604 - P00451:p.Ala1610Ser chrX 153720674 153720677 VAR_028605 - P00451:p.Ile1698Thr chrX 153720671 153720674 VAR_001138 - P00451:p.Tyr1699Cys chrX 153720671 153720674 VAR_001139 - P00451:p.Tyr1699Phe chrX 153720665 153720668 VAR_028606 - P00451:p.Glu1701Lys chrX 153720653 153720656 VAR_028607 - P00451:p.Gln1705His chrX 153720644 153720647 VAR_001140 - P00451:p.Arg1708Cys chrX 153720644 153720647 VAR_001141 - P00451:p.Arg1708His chrX 153720626 153720629 VAR_028608 - P00451:p.Thr1714Ser chrX 153720623 153720626 VAR_001142 - P00451:p.Arg1715Gly chrX 153720599 153720602 VAR_001143 - P00451:p.Glu1723Lys chrX 153720587 153720590 VAR_028609 - P00451:p.Asp1727Val chrX 153720584 153720587 VAR_001144 - P00451:p.Tyr1728Cys chrX 153698518 153698521 VAR_028611 - P00451:p.Lys1751Gln chrX 153698467 153698470 VAR_028612 - P00451:p.Arg1768His chrX 153698464 153698467 VAR_001145 - P00451:p.Gly1769Arg chrX 153698458 153698461 VAR_028613 - P00451:p.Leu1771Pro chrX 153698446 153698449 VAR_001147 - P00451:p.Leu1775Phe chrX 153698446 153698449 VAR_001146 - P00451:p.Leu1775Val chrX 153698440 153698443 VAR_028614 - P00451:p.Leu1777Pro chrX 153698434 153698437 VAR_001148 - P00451:p.Gly1779Glu chrX 153698434 153698437 VAR_028615 - P00451:p.Gly1779Arg chrX 153698431 153698434 VAR_028616 - P00451:p.Pro1780Leu chrX 153698425 153698428 VAR_028617 - P00451:p.Ile1782Arg chrX 153698407 153698410 VAR_028618 - P00451:p.Asp1788His chrX 153698398 153698401 VAR_001149 - P00451:p.Met1791Thr chrX 153696981 153696984 VAR_028619 - P00451:p.Ala1798Pro chrX 153696978 153696981 VAR_028620 - P00451:p.Ser1799His chrX 153696975 153696978 VAR_001151 - P00451:p.Arg1800Cys chrX 153696975 153696978 VAR_001152 - P00451:p.Arg1800Gly chrX 153696975 153696978 VAR_001150 - P00451:p.Arg1800His chrX 153696972 153696975 VAR_028621 - P00451:p.Pro1801Ala chrX 153696969 153696972 VAR_028622 - P00451:p.Tyr1802Cys chrX 153696966 153696969 VAR_001153 - P00451:p.Ser1803Tyr chrX 153696963 153696966 VAR_017338 - P00451:p.Phe1804Ser chrX 153696951 153696954 VAR_001154 - P00451:p.Leu1808Phe chrX 153696849 153696852 VAR_001155 - P00451:p.Met1842Ile chrX 153696843 153696846 VAR_001156 - P00451:p.Pro1844Ser chrX 153696840 153696843 VAR_001157 - P00451:p.Thr1845Pro chrX 153696831 153696834 VAR_028623 - P00451:p.Glu1848Gly chrX 153696816 153696819 VAR_001158 - P00451:p.Ala1853Thr chrX 153696816 153696819 VAR_001159 - P00451:p.Ala1853Val chrX 153696801 153696804 VAR_028624 - P00451:p.Ser1858Cys chrX 153696497 153696500 VAR_028625 - P00451:p.Lys1864Glu chrX 153696494 153696497 VAR_001160 - P00451:p.Asp1865Asn chrX 153696494 153696497 VAR_001161 - P00451:p.Asp1865Tyr chrX 153696488 153696491 VAR_028626 - P00451:p.His1867Pro chrX 153696488 153696491 VAR_001162 - P00451:p.His1867Arg chrX 153696482 153696485 VAR_028627 - P00451:p.Gly1869Asp chrX 153696482 153696485 VAR_001163 - P00451:p.Gly1869Val chrX 153696473 153696476 VAR_028628 - P00451:p.Gly1872Glu chrX 153696470 153696473 VAR_001164 - P00451:p.Pro1873Arg chrX 153696464 153696467 VAR_028629 - P00451:p.Leu1875Pro chrX 153696461 153696464 VAR_028630 - P00451:p.Val1876Leu chrX 153696458 153696461 VAR_028631 - P00451:p.Cys1877Arg chrX 153696443 153696446 VAR_028632 - P00451:p.Leu1882Pro chrX 153696425 153696428 VAR_001165 - P00451:p.Arg1888Ile chrX 153696407 153696410 VAR_001166 - P00451:p.Glu1894Gly chrX 153696386 153696389 VAR_028633 - P00451:p.Ile1901Phe chrX 153696377 153696380 VAR_028634 - P00451:p.Glu1904Asp chrX 153696377 153696380 VAR_001167 - P00451:p.Glu1904Lys chrX 153696368 153696371 VAR_028635 - P00451:p.Ser1907Cys chrX 153696368 153696371 VAR_028636 - P00451:p.Ser1907Arg chrX 153696365 153696368 VAR_028637 - P00451:p.Trp1908Leu chrX 153696362 153696365 VAR_028638 - P00451:p.Tyr1909Cys chrX 153696059 153696062 VAR_001168 - P00451:p.Asn1941Asp chrX 153696059 153696062 VAR_001169 - P00451:p.Asn1941Ser chrX 153696056 153696059 VAR_015130 - P00451:p.Gly1942Ala chrX 153696047 153696050 VAR_028641 - P00451:p.Met1945Val chrX 153696029 153696032 VAR_028642 - P00451:p.Leu1951Phe chrX 153696002 153696005 VAR_001171 - P00451:p.Arg1960Leu chrX 153696002 153696005 VAR_001170 - P00451:p.Arg1960Gln chrX 153695993 153695996 VAR_015131 - P00451:p.Leu1963Pro chrX 153695987 153695990 VAR_028643 - P00451:p.Ser1965Ile chrX 153695984 153695987 VAR_028644 - P00451:p.Met1966Ile chrX 153695984 153695987 VAR_028645 - P00451:p.Met1966Val chrX 153695981 153695984 VAR_001172 - P00451:p.Gly1967Asp chrX 153695978 153695981 VAR_028646 - P00451:p.Ser1968Arg chrX 153695969 153695972 VAR_028647 - P00451:p.Asn1971Thr chrX 153695963 153695966 VAR_028648 - P00451:p.His1973Leu chrX 153695945 153695948 VAR_001173 - P00451:p.Gly1979Val chrX 153695942 153695945 VAR_028649 - P00451:p.His1980Pro chrX 153695942 153695945 VAR_001174 - P00451:p.His1980Tyr chrX 153695936 153695939 VAR_028650 - P00451:p.Phe1982Ile chrX 153695927 153695930 VAR_028651 - P00451:p.Arg1985Gln chrX 153695900 153695903 VAR_028652 - P00451:p.Leu1994Pro chrX 153695888 153695891 VAR_028653 - P00451:p.Tyr1998Cys chrX 153694132 153694135 VAR_028655 - P00451:p.Thr2004Arg chrX 153694123 153694126 VAR_028656 - P00451:p.Met2007Ile chrX 153694099 153694102 VAR_028657 - P00451:p.Trp2015Cys chrX 153694096 153694099 VAR_028658 - P00451:p.Arg2016Pro chrX 153694096 153694099 VAR_001175 - P00451:p.Arg2016Trp chrX 153694090 153694093 VAR_028659 - P00451:p.Glu2018Gly chrX 153694078 153694081 VAR_028660 - P00451:p.Gly2022Asp chrX 153694060 153694063 VAR_028661 - P00451:p.Gly2028Arg chrX 153694054 153694057 VAR_028662 - P00451:p.Ser2030Asn chrX 153694039 153694042 VAR_028663 - P00451:p.Val2035Ala chrX 153694036 153694039 VAR_015132 - P00451:p.Tyr2036Cys chrX 153694030 153694033 VAR_001176 - P00451:p.Asn2038Ser chrX 153693416 153693419 VAR_028664 - P00451:p.Cys2040Tyr chrX 153693401 153693404 VAR_028665 - P00451:p.Gly2045Glu chrX 153693401 153693404 VAR_028666 - P00451:p.Gly2045Val chrX 153693383 153693386 VAR_017339 - P00451:p.Ile2051Ser chrX 153693368 153693371 VAR_028667 - P00451:p.Ile2056Asn chrX 153693362 153693365 VAR_028668 - P00451:p.Ala2058Pro chrX 153691922 153691925 VAR_001177 - P00451:p.Trp2065Arg chrX 153691916 153691919 VAR_028669 - P00451:p.Pro2067Leu chrX 153691907 153691910 VAR_028670 - P00451:p.Ala2070Val chrX 153691871 153691874 VAR_028671 - P00451:p.Ser2082Asn chrX 153691853 153691856 VAR_001178 - P00451:p.Ser2088Phe chrX 153688205 153688208 VAR_001179 - P00451:p.Asp2093Gly chrX 153688205 153688208 VAR_028672 - P00451:p.Asp2093Tyr chrX 153688169 153688172 VAR_001180 - P00451:p.Thr2105Asn chrX 153688166 153688169 VAR_028673 - P00451:p.Gln2106Glu chrX 153688166 153688169 VAR_028674 - P00451:p.Gln2106Arg chrX 153688163 153688166 VAR_001181 - P00451:p.Gly2107Ser chrX 153688157 153688160 VAR_028675 - P00451:p.Arg2109Cys chrX 153688133 153688136 VAR_028676 - P00451:p.Ile2117Phe chrX 153688133 153688136 VAR_028677 - P00451:p.Ile2117Ser chrX 153688127 153688130 VAR_028678 - P00451:p.Gln2119Arg chrX 153688124 153688127 VAR_028679 - P00451:p.Phe2120Cys chrX 153688124 153688127 VAR_001182 - P00451:p.Phe2120Leu chrX 153688112 153688115 VAR_001183 - P00451:p.Tyr2124Cys chrX 153688079 153688082 VAR_001184 - P00451:p.Arg2135Pro chrX 153688070 153688073 VAR_001185 - P00451:p.Ser2138Tyr chrX 153688061 153688064 VAR_017340 - P00451:p.Thr2141Asn chrX 153655200 153655203 VAR_028680 - P00451:p.Phe2145Cys chrX 153655191 153655194 VAR_001186 - P00451:p.Asn2148Ser chrX 153655164 153655167 VAR_028681 - P00451:p.Asn2157Asp chrX 153655149 153655152 VAR_028682 - P00451:p.Pro2162Leu chrX 153655128 153655131 VAR_028683 - P00451:p.Arg2169Cys chrX 153655128 153655131 VAR_001187 - P00451:p.Arg2169His chrX 153655119 153655122 VAR_001188 - P00451:p.Pro2172Gln chrX 153655119 153655122 VAR_015133 - P00451:p.Pro2172Arg chrX 153655116 153655119 VAR_028684 - P00451:p.Thr2173Ala chrX 153655116 153655119 VAR_001189 - P00451:p.Thr2173Ile chrX 153655113 153655116 VAR_028685 - P00451:p.His2174Asp chrX 153655101 153655104 VAR_001190 - P00451:p.Arg2178Cys chrX 153655101 153655104 VAR_001191 - P00451:p.Arg2178His chrX 153655101 153655104 VAR_001192 - P00451:p.Arg2178Leu chrX 153655089 153655092 VAR_001193 - P00451:p.Arg2182Cys chrX 153655089 153655092 VAR_001194 - P00451:p.Arg2182His chrX 153655089 153655092 VAR_028686 - P00451:p.Arg2182Pro chrX 153655086 153655089 VAR_028687 - P00451:p.Met2183Arg chrX 153655086 153655089 VAR_001195 - P00451:p.Met2183Val chrX 153655080 153655083 VAR_001196 - P00451:p.Leu2185Ser chrX 153655080 153655083 VAR_028688 - P00451:p.Leu2185Trp chrX 153653840 153653843 VAR_017341 - P00451:p.Cys2193Gly chrX 153653831 153653834 VAR_028690 - P00451:p.Pro2196Arg chrX 153653825 153653828 VAR_028691 - P00451:p.Gly2198Val chrX 153653819 153653822 VAR_028692 - P00451:p.Glu2200Asp chrX 153653807 153653810 VAR_001197 - P00451:p.Ile2204Thr chrX 153653792 153653795 VAR_001198 - P00451:p.Ile2209Asn chrX 153653786 153653789 VAR_001199 - P00451:p.Ala2211Pro chrX 153653759 153653762 VAR_028693 - P00451:p.Ala2220Pro chrX 153653750 153653753 VAR_001200 - P00451:p.2223del chrX 153653747 153653750 VAR_028695 - P00451:p.Pro2224Leu chrX 153653747 153653750 VAR_028694 - P00451:p.2224del chrX 153653735 153653738 VAR_001201 - P00451:p.Arg2228Gly chrX 153653735 153653738 VAR_001202 - P00451:p.Arg2228Leu chrX 153653735 153653738 VAR_028696 - P00451:p.Arg2228Pro chrX 153653735 153653738 VAR_001203 - P00451:p.Arg2228Gln chrX 153653732 153653735 VAR_028697 - P00451:p.Leu2229Phe chrX 153652584 153652587 VAR_001204 - P00451:p.Val2242Met chrX 153652566 153652569 VAR_001205 - P00451:p.Trp2248Cys chrX 153652566 153652569 VAR_028698 - P00451:p.Trp2248Ser chrX 153652557 153652560 VAR_028699 - P00451:p.Val2251Ala chrX 153652557 153652560 VAR_028700 - P00451:p.Val2251Glu chrX 153652539 153652542 VAR_021356 - P00451:p.Met2257Val chrX 153652524 153652527 VAR_017342 - P00451:p.Val2262Val chrX 153652518 153652521 VAR_028701 - P00451:p.Thr2264Ala chrX 153652515 153652518 VAR_001206 - P00451:p.Gln2265Arg chrX 153652473 153652476 VAR_028702 - P00451:p.Phe2279Cys chrX 153652473 153652476 VAR_028703 - P00451:p.Phe2279Ile chrX 153652467 153652470 VAR_028704 - P00451:p.Ile2281Thr chrX 153652440 153652443 VAR_028705 - P00451:p.Trp2290Leu chrX 153629719 153629722 VAR_028706 - P00451:p.Gly2304Val chrX 153629710 153629713 VAR_015134 - P00451:p.Asp2307Ala chrX 153629674 153629677 VAR_001207 - P00451:p.Pro2319Leu chrX 153629674 153629677 VAR_001208 - P00451:p.Pro2319Ser chrX 153629662 153629665 VAR_001209 - P00451:p.Arg2323Cys chrX 153629662 153629665 VAR_028707 - P00451:p.Arg2323Gly chrX 153629662 153629665 VAR_001210 - P00451:p.Arg2323His chrX 153629662 153629665 VAR_028708 - P00451:p.Arg2323Leu chrX 153629653 153629656 VAR_028709 - P00451:p.Arg2326Gly chrX 153629653 153629656 VAR_001211 - P00451:p.Arg2326Leu chrX 153629653 153629656 VAR_028710 - P00451:p.Arg2326Pro chrX 153629653 153629656 VAR_001212 - P00451:p.Arg2326Gln chrX 153629641 153629644 VAR_028711 - P00451:p.Gln2330Pro chrX 153629635 153629638 VAR_028712 - P00451:p.Trp2332Arg chrX 153629614 153629617 VAR_028713 - P00451:p.Arg2339Thr chrX 153629599 153629602 VAR_008968 - P00451:p.Gly2344Cys chrX 153629599 153629602 VAR_028714 - P00451:p.Gly2344Ser chrX 153629596 153629599 VAR_028715 - P00451:p.Cys2345Ser chrX 153629596 153629599 VAR_028716 - P00451:p.Cys2345Tyr chrX 138338461 138338464 VAR_006520 + P00740:p.Ile7Phe chrX 138338491 138338494 VAR_006521 + P00740:p.Ile17Asn chrX 138338524 138338527 VAR_006522 + P00740:p.Cys28Arg chrX 138338524 138338527 VAR_017343 + P00740:p.Cys28Tyr chrX 138338530 138338531 VAR_006523 + P00740:p.Val30Ile chrX 138344688 138344690 VAR_006523 + P00740:p.Val30Ile chrX 138344708 138344711 VAR_017307 + P00740:p.Ala37Thr chrX 138344726 138344729 VAR_006525 + P00740:p.Arg43Leu chrX 138344726 138344729 VAR_006524 + P00740:p.Arg43Gln chrX 138344726 138344729 VAR_006526 + P00740:p.Arg43Trp chrX 138344732 138344735 VAR_006527 + P00740:p.Lys45Asn chrX 138344735 138344738 VAR_006528 + P00740:p.Arg46Ser chrX 138344735 138344738 VAR_006529 + P00740:p.Arg46Thr chrX 138344741 138344744 VAR_006530 + P00740:p.Asn48Ile chrX 138344744 138344747 VAR_006531 + P00740:p.Ser49Pro chrX 138344753 138344756 VAR_017344 + P00740:p.Leu52Ser chrX 138344756 138344759 VAR_006532 + P00740:p.Glu53Ala chrX 138344759 138344762 VAR_006533 + P00740:p.Glu54Gly chrX 138344762 138344765 VAR_006534 + P00740:p.Phe55Cys chrX 138344771 138344774 VAR_006535 + P00740:p.Gly58Ala chrX 138344771 138344774 VAR_006536 + P00740:p.Gly58Arg chrX 138344783 138344789 VAR_006537 + P00740:p.62_63del chrX 138344795 138344798 VAR_006538 + P00740:p.Glu66Val chrX 138344798 138344801 VAR_006539 + P00740:p.Glu67Lys chrX 138344810 138344813 VAR_006540 + P00740:p.Phe71Ser chrX 138344816 138344819 VAR_006541 + P00740:p.Glu73Lys chrX 138344816 138344819 VAR_006542 + P00740:p.Glu73Val chrX 138344822 138344825 VAR_017308 + P00740:p.Arg75Gln chrX 138344834 138344837 VAR_017309 + P00740:p.Glu79Asp chrX 138344849 138344852 VAR_017345 + P00740:p.Thr84Arg chrX 138345058 138345061 VAR_006543 + P00740:p.Tyr91Cys chrX 138345064 138345065 VAR_006544 + P00740:p.Asp93Gly chrX 138348754 138348756 VAR_006544 + P00740:p.Asp93Gly chrX 138348762 138348765 VAR_006545 + P00740:p.Gln96Pro chrX 138348765 138348768 VAR_006546 + P00740:p.Cys97Ser chrX 138348777 138348780 VAR_006547 + P00740:p.Pro101Arg chrX 138348780 138348783 VAR_006548 + P00740:p.Cys102Arg chrX 138348792 138348795 VAR_017346 + P00740:p.Gly106Asp chrX 138348792 138348795 VAR_006549 + P00740:p.Gly106Ser chrX 138348798 138348801 VAR_006550 + P00740:p.Cys108Ser chrX 138348804 138348807 VAR_006551 + P00740:p.Asp110Asn chrX 138348810 138348813 VAR_006552 + P00740:p.Ile112Ser chrX 138348813 138348816 VAR_006553 + P00740:p.Asn113Lys chrX 138348819 138348822 VAR_006554 + P00740:p.Tyr115Cys chrX 138348831 138348834 VAR_006555 + P00740:p.Cys119Phe chrX 138348831 138348834 VAR_006556 + P00740:p.Cys119Arg chrX 138348846 138348849 VAR_017347 + P00740:p.Glu124Lys chrX 138348849 138348852 VAR_006557 + P00740:p.Gly125Glu chrX 138348849 138348852 VAR_017348 + P00740:p.Gly125Arg chrX 138348849 138348852 VAR_006558 + P00740:p.Gly125Val chrX 138348861 138348867 VAR_006559 + P00740:p.129_130del chrX 138356049 138356052 VAR_017349 + P00740:p.Cys134Tyr chrX 138356055 138356058 VAR_006560 + P00740:p.Ile136Thr chrX 138356064 138356067 VAR_006561 + P00740:p.Gly139Asp chrX 138356064 138356067 VAR_006562 + P00740:p.Gly139Ser chrX 138356112 138356115 VAR_006563 + P00740:p.Cys155Phe chrX 138356127 138356130 VAR_006564 + P00740:p.Gly160Glu chrX 138356148 138356151 VAR_006565 + P00740:p.Gln167His chrX 138356154 138356157 VAR_017350 + P00740:p.Ser169Cys chrX 138356157 138356160 VAR_017351 + P00740:p.Cys170Phe chrX 138358751 138358754 VAR_006566 + P00740:p.Cys178Arg chrX 138358751 138358754 VAR_006567 + P00740:p.Cys178Trp chrX 138358790 138358793 VAR_006569 + P00740:p.Arg191Cys chrX 138358790 138358793 VAR_006568 + P00740:p.Arg191His chrX 138358799 138358802 VAR_011773 + P00740:p.Thr194Ala chrX 138358895 138358898 VAR_006571 + P00740:p.Arg226Gly chrX 138358895 138358898 VAR_006572 + P00740:p.Arg226Gln chrX 138358895 138358898 VAR_006570 + P00740:p.Arg226Trp chrX 138358898 138358901 VAR_006573 + P00740:p.Val227Asp chrX 138358898 138358901 VAR_017310 + P00740:p.Val227Phe chrX 138358901 138358904 VAR_017311 + P00740:p.Val228Phe chrX 138358901 138358904 VAR_006574 + P00740:p.Val228Leu chrX 138358940 138358943 VAR_006575 + P00740:p.Gln241His chrX 138358940 138358943 VAR_017352 + P00740:p.Gln241Lys chrX 138368449 138368452 VAR_017312 + P00740:p.Cys252Ser chrX 138368449 138368452 VAR_017353 + P00740:p.Cys252Tyr chrX 138368452 138368455 VAR_006576 + P00740:p.Gly253Glu chrX 138368452 138368455 VAR_006577 + P00740:p.Gly253Arg chrX 138368488 138368491 VAR_006578 + P00740:p.Ala265Thr chrX 138368497 138368500 VAR_017313 + P00740:p.Cys268Trp chrX 138368530 138368533 VAR_006579 + P00740:p.Ala279Thr chrX 138369210 138369213 VAR_006580 + P00740:p.Asn283Asp chrX 138369219 138369222 VAR_006581 + P00740:p.286del chrX 138369234 138369237 VAR_017314 + P00740:p.Glu291Val chrX 138369243 138369246 VAR_006582 + P00740:p.Arg294Gly chrX 138369243 138369246 VAR_006583 + P00740:p.Arg294Gln chrX 138369267 138369270 VAR_006584 + P00740:p.His302Arg chrX 138369279 138369282 VAR_017315 + P00740:p.Asn306Ser chrX 138369309 138369312 VAR_006585 + P00740:p.Ile316Phe chrX 138369315 138369318 VAR_017354 + P00740:p.Leu318Arg chrX 138369324 138369327 VAR_006586 + P00740:p.Leu321Gln chrX 138369360 138369363 VAR_006587 + P00740:p.Pro333His chrX 138369360 138369363 VAR_017355 + P00740:p.Pro333Thr chrX 138369387 138369390 VAR_006588 + P00740:p.Thr342Lys chrX 138369387 138369390 VAR_006589 + P00740:p.Thr342Met chrX 138369393 138369396 VAR_017356 + P00740:p.Ile344Leu chrX 138369414 138369417 VAR_006590 + P00740:p.Gly351Asp chrX 138369429 138369432 VAR_006591 + P00740:p.Trp356Cys chrX 138369432 138369435 VAR_006592 + P00740:p.Gly357Glu chrX 138369432 138369435 VAR_017316 + P00740:p.Gly357Arg chrX 138369447 138369450 VAR_006593 + P00740:p.Lys362Glu chrX 138369450 138369453 VAR_006594 + P00740:p.Gly363Trp chrX 138369459 138369462 VAR_006595 + P00740:p.Ala366Asp chrX 138369498 138369501 VAR_006596 + P00740:p.Arg379Gly chrX 138369498 138369501 VAR_006597 + P00740:p.Arg379Gln chrX 138369507 138369510 VAR_006598 + P00740:p.Cys382Tyr chrX 138369510 138369513 VAR_017358 + P00740:p.Leu383Phe chrX 138369510 138369513 VAR_017357 + P00740:p.Leu383Ile chrX 138369522 138369525 VAR_006599 + P00740:p.Lys387Glu chrX 138369531 138369534 VAR_006600 + P00740:p.Ile390Phe chrX 138369543 138369546 VAR_006601 + P00740:p.Met394Lys chrX 138369546 138369549 VAR_017359 + P00740:p.Phe395Ile chrX 138369546 138369549 VAR_017360 + P00740:p.Phe395Leu chrX 138369549 138369552 VAR_017361 + P00740:p.Cys396Phe chrX 138369549 138369552 VAR_006602 + P00740:p.Cys396Ser chrX 138369552 138369555 VAR_017317 + P00740:p.Ala397Pro chrX 138369573 138369576 VAR_006603 + P00740:p.Arg404Thr chrX 138369582 138369585 VAR_017362 + P00740:p.Cys407Arg chrX 138369582 138369585 VAR_006604 + P00740:p.Cys407Ser chrX 138369591 138369594 VAR_017318 + P00740:p.Asp410His chrX 138369594 138369597 VAR_017320 + P00740:p.Ser411Gly chrX 138369594 138369597 VAR_017319 + P00740:p.Ser411Ile chrX 138369597 138369600 VAR_017363 + P00740:p.Gly412Glu chrX 138369600 138369603 VAR_006605 + P00740:p.Gly413Arg chrX 138369603 138369606 VAR_017321 + P00740:p.Pro414Thr chrX 138369618 138369621 VAR_006606 + P00740:p.Val419Glu chrX 138369633 138369636 VAR_006607 + P00740:p.Phe424Val chrX 138369639 138369642 VAR_006608 + P00740:p.Thr426Pro chrX 138369651 138369654 VAR_006609 + P00740:p.Ser430Thr chrX 138369654 138369657 VAR_006610 + P00740:p.Trp431Gly chrX 138369654 138369657 VAR_006611 + P00740:p.Trp431Arg chrX 138369657 138369660 VAR_006612 + P00740:p.Gly432Ser chrX 138369657 138369660 VAR_006613 + P00740:p.Gly432Val chrX 138369660 138369663 VAR_006614 + P00740:p.Glu433Ala chrX 138369660 138369663 VAR_006615 + P00740:p.Glu433Lys chrX 138369666 138369669 VAR_017364 + P00740:p.Cys435Tyr chrX 138369669 138369672 VAR_006616 + P00740:p.Ala436Val chrX 138369687 138369690 VAR_017365 + P00740:p.Gly442Glu chrX 138369687 138369690 VAR_017322 + P00740:p.Gly442Arg chrX 138369690 138369693 VAR_017323 + P00740:p.Ile443Thr chrX 138369696 138369699 VAR_006617 + P00740:p.Thr445Thr chrX 138369708 138369711 VAR_006618 + P00740:p.Arg449Gln chrX 138369708 138369711 VAR_006619 + P00740:p.Arg449Trp chrX 138369711 138369714 VAR_006620 + P00740:p.Tyr450Cys chrX 138369720 138369723 VAR_017324 + P00740:p.Trp453Arg chrX 138369723 138369726 VAR_006621 + P00740:p.Ile454Thr chrX 138369744 138369747 VAR_014308 + P00740:p.Thr461Pro chr15 78232496 78232499 VAR_005205 + P16930:p.Asn16Ile chr15 78237558 78237561 VAR_005206 + P16930:p.Phe62Cys chr15 78237564 78237567 VAR_005207 + P16930:p.Gln64His chr15 78241677 78241680 VAR_005208 + P16930:p.Ala134Asp chr15 78247464 78247467 VAR_005209 + P16930:p.Gly158Asp chr15 78247488 78247491 VAR_005210 + P16930:p.Val166Gly chr15 78247683 78247686 VAR_005211 + P16930:p.Cys193Arg chr15 78251557 78251560 VAR_005212 + P16930:p.Gly207Asp chr15 78251635 78251638 VAR_005213 + P16930:p.Asp233Val chr15 78251638 78251641 VAR_005214 + P16930:p.Trp234Gly chr15 78252448 78252451 VAR_005215 + P16930:p.Pro249Thr chr15 78252484 78252487 VAR_005216 + P16930:p.Pro261Leu chr15 78254454 78254457 VAR_005217 + P16930:p.Thr294Pro chr15 78259568 78259571 VAR_005218 + P16930:p.Gly337Ser chr15 78259580 78259583 VAR_005219 + P16930:p.Arg341Trp chr15 78259583 78259586 VAR_005220 + P16930:p.Pro342Leu chr15 78260471 78260474 VAR_005221 + P16930:p.366del chr15 78260480 78260483 VAR_005222 + P16930:p.Gly369Val chr15 78260516 78260519 VAR_005223 + P16930:p.Arg381Gly chr15 78265558 78265561 VAR_005224 + P16930:p.Phe405His chr8 82557888 82557891 VAR_036320 - P15090:p.Glu23Asp chr2 88265034 88265037 VAR_014662 - P07148:p.Ala54Thr chr2 88263325 88263328 VAR_022093 - P07148:p.Thr94Ala chr3 10049547 10049550 VAR_025827 + Q9BXW9:p.Lys33Arg chr3 10049631 10049634 VAR_025828 + Q9BXW9:p.Thr61Met chr3 10049643 10049646 VAR_025829 + Q9BXW9:p.Gln65His chr3 10051480 10051482 VAR_022559 + Q9BXW9:p.Ser126Gly chr3 10051856 10051857 VAR_022559 + Q9BXW9:p.Ser126Gly chr3 10055984 10055987 VAR_025830 + Q9BXW9:p.Ile172Met chr3 10056410 10056413 VAR_025831 + Q9BXW9:p.Thr193Ala chr3 10059748 10059751 VAR_022560 + Q9BXW9:p.Arg302Trp chr3 10059826 10059829 VAR_025832 + Q9BXW9:p.Arg328Gln chr3 10064657 10064660 VAR_025833 + Q9BXW9:p.Leu446Val chr3 10064687 10064690 VAR_025834 + Q9BXW9:p.Leu456Arg chr3 10080514 10080517 VAR_025835 + Q9BXW9:p.Gln623Pro chr3 10081530 10081533 VAR_022561 + Q9BXW9:p.Pro714Leu chr3 10089652 10089655 VAR_025836 + Q9BXW9:p.Lys865Arg chr3 10090031 10090034 VAR_025837 + Q9BXW9:p.Gly901Val chr3 10106997 10107000 VAR_022562 + Q9BXW9:p.Arg1236His chr1 40403234 40403237 VAR_034711 + O75844:p.Thr137Ala chr1 40420752 40420755 VAR_019308 + O75844:p.Trp340Arg chr11 66370127 66370130 VAR_036407 + Q9Y256:p.Pro326Ala chr11 61402841 61402844 VAR_035341 - Q9Y5Q0:p.Lys192Asn chr11 61402658 61402661 VAR_035342 - Q9Y5Q0:p.Asn216Lys chr3 139830654 139830657 VAR_024314 + Q9NVQ4:p.Ala117Thr chr3 139830684 139830687 VAR_024315 + Q9NVQ4:p.Leu127Ser chr8 27346955 27346958 VAR_041687 + Q14289:p.Gln359Glu chr8 27356360 27356363 VAR_041688 + Q14289:p.Arg698His chr8 27364263 27364266 VAR_041689 + Q14289:p.Leu808Pro chr8 27364500 27364503 VAR_020284 + Q14289:p.Lys838Thr chr8 27371820 27371823 VAR_041690 + Q14289:p.Glu970Lys chr2 170237202 170237205 VAR_031806 - Q53R41:p.Glu384Gln chr2 170228597 170228600 VAR_031807 - Q53R41:p.Cys446Gly chr2 170228534 170228537 VAR_031808 - Q53R41:p.Met467Val chr5 7921130 7921133 VAR_036161 - Q14CZ7:p.Leu22Val chr5 7919819 7919822 VAR_031810 - Q14CZ7:p.Glu459Gly chrX 153298899 153298902 VAR_011923 - P98173:p.Trp213Cys chr21 41616739 41616742 VAR_021953 + P58499:p.Val14Met chr16 88410506 88410509 VAR_009637 - O15360:p.Val6Asp chr16 88410500 88410503 VAR_009638 - O15360:p.Asn8Lys chr16 88402255 88402258 VAR_009639 - O15360:p.Ala181Val chr16 88399267 88399270 VAR_038012 - O15360:p.Leu210Arg chr16 88397227 88397230 VAR_009640 - O15360:p.Leu244Phe chr16 88397203 88397206 VAR_009641 - O15360:p.Asp252Gly chr16 88393541 88393544 VAR_017496 - O15360:p.Thr266Ala chr16 88385365 88385368 VAR_009642 - O15360:p.Arg435Cys chr16 88377005 88377008 VAR_009643 - O15360:p.His492Arg chr16 88376978 88376981 VAR_009644 - O15360:p.Gly501Ser chr16 88372741 88372744 VAR_017497 - O15360:p.Asp598Asn chr16 88367213 88367216 VAR_038013 - O15360:p.Leu660Pro chr16 88364477 88364480 VAR_009645 - O15360:p.Pro739Leu chr16 88364107 88364110 VAR_038014 - O15360:p.Val761Glu chr16 88363822 88363825 VAR_009646 - O15360:p.Gly809Asp chr16 88363798 88363801 VAR_009647 - O15360:p.Leu817Pro chr16 88361121 88361124 VAR_038015 - O15360:p.Tyr843Asp chr16 88361115 88361118 VAR_009648 - O15360:p.Leu845Pro chr16 88361076 88361079 VAR_017498 - O15360:p.Ser858Arg chr16 88358969 88358972 VAR_038016 - O15360:p.Gln869Pro chr16 88343712 88343715 VAR_009649 - O15360:p.Arg1055Leu chr16 88343712 88343715 VAR_017499 - O15360:p.Arg1055Trp chr16 88342669 88342672 VAR_017500 - O15360:p.Leu1082Pro chr16 88342651 88342654 VAR_017501 - O15360:p.Ser1088Phe chr16 88342585 88342588 VAR_009650 - O15360:p.His1110Pro chr16 88340796 88340799 VAR_009651 - O15360:p.Arg1117Gly chr16 88340763 88340766 VAR_009652 - O15360:p.Gln1128Glu chr16 88340754 88340757 VAR_009653 - O15360:p.Thr1131Ala chr16 88336726 88336729 VAR_038019 - O15360:p.Leu1249Pro chr16 88334754 88334757 VAR_017502 - O15360:p.Phe1262Leu chr16 88334751 88334754 VAR_009654 - O15360:p.1263del chr16 88333975 88333978 VAR_009655 - O15360:p.Val1287Ile chr16 88333930 88333933 VAR_009656 - O15360:p.Trp1302Arg chr16 88333424 88333427 VAR_017505 - O15360:p.Pro1324Leu chr16 88333412 88333415 VAR_009657 - O15360:p.Thr1328Ala chr16 88333170 88333173 VAR_038020 - O15360:p.Ala1346Thr chr16 88333131 88333134 VAR_017503 - O15360:p.Asp1359Tyr chr16 88333128 88333131 VAR_017504 - O15360:p.Met1360Ile chr16 88332850 88332853 VAR_038021 - O15360:p.Arg1400His chr16 88332799 88332802 VAR_009658 - O15360:p.His1417Asp chr9 95091050 95091053 VAR_005225 - Q00597:p.Ser26Phe chr9 95089278 95089281 VAR_016339 - Q00597:p.Ile80Thr chr9 95013912 95013915 VAR_005226 - Q00597:p.Gly139Glu chr9 94991875 94991878 VAR_005227 - Q00597:p.Leu190Phe chr9 94991860 94991863 VAR_005228 - Q00597:p.Asp195Val chr9 94966982 94966985 VAR_005229 - Q00597:p.Ile312Val chr9 94949088 94949091 VAR_005230 - Q00597:p.Val449Met chr9 94949040 94949043 VAR_005231 - Q00597:p.Gln465Arg chr9 94948947 94948950 VAR_005232 - Q00597:p.Leu496Arg chr9 94943558 94943561 VAR_005233 - Q00597:p.Leu554Pro chr6 35531517 35531520 VAR_023372 + Q9HB96:p.Arg89Leu chr6 35531802 35531805 VAR_038022 + Q9HB96:p.Pro184Gln chr6 35531862 35531865 VAR_023373 + Q9HB96:p.Ser204Leu chr6 35534099 35534102 VAR_023374 + Q9HB96:p.Gly340Arg chr6 35534108 35534111 VAR_023375 + Q9HB96:p.Arg343Gln chr6 35538663 35538666 VAR_023376 + Q9HB96:p.Ala502Thr chr11 22602972 22602975 VAR_022270 - Q9NPI8:p.Pro320Leu chr9 35068695 35068698 VAR_017495 - O15287:p.Leu71Pro chr9 35066762 35066765 VAR_021103 - O15287:p.Gly294Glu chr9 35066753 35066756 VAR_020311 - O15287:p.Thr297Ile chr9 35066514 35066517 VAR_021104 - O15287:p.Pro330Ser chr9 35065967 35065970 VAR_021105 - O15287:p.Ser378Leu chr9 35065604 35065607 VAR_021106 - O15287:p.Lys430Glu chr9 35065020 35065023 VAR_021107 - O15287:p.Arg513Gln chr9 35064164 35064167 VAR_021108 - O15287:p.Ser603Phe chr9 35064152 35064155 VAR_035864 - O15287:p.Ala607Thr chr15 87604952 87604955 VAR_032689 + Q9NVI1:p.Pro55Leu chr15 87636985 87636988 VAR_027278 + Q9NVI1:p.Gln686Lys chr17 57292002 57292005 VAR_020896 - Q9BX63:p.Pro47Ala chr17 57279351 57279354 VAR_020897 - Q9BX63:p.Arg173Cys chr17 57279291 57279294 VAR_020898 - Q9BX63:p.Val193Ile chr17 57279285 57279288 VAR_020899 - Q9BX63:p.Leu195Pro chr17 57240762 57240765 VAR_023700 - Q9BX63:p.Gln255His chr17 57240735 57240738 VAR_023701 - Q9BX63:p.Arg264Trp chr17 57240630 57240633 VAR_020900 - Q9BX63:p.Met299Ile chr17 57233488 57233491 VAR_023702 - Q9BX63:p.Ala349Pro chr17 57231325 57231328 VAR_020901 - Q9BX63:p.Arg419Trp chr17 57216447 57216450 VAR_020902 - Q9BX63:p.Phe531Val chr17 57216420 57216423 VAR_020903 - Q9BX63:p.Gln540Leu chr17 57208699 57208702 VAR_023703 - Q9BX63:p.Trp647Cys chr17 57176710 57176713 VAR_023704 - Q9BX63:p.Arg707Cys chr17 57125651 57125654 VAR_020904 - Q9BX63:p.Cys832Tyr chr17 57118078 57118081 VAR_020906 - Q9BX63:p.Val935Gly chr17 57116086 57116089 VAR_020907 - Q9BX63:p.Pro1034Leu chr10 127658841 127658844 VAR_027896 + Q8TC84:p.Arg46Ser chr10 127687943 127687946 VAR_024176 + Q8TC84:p.Leu329Val chr19 38159251 38159254 VAR_029828 + Q9BTP7:p.Ser158Leu chr19 38159353 38159356 VAR_029829 + Q9BTP7:p.Ile192Thr chr13 97881531 97881534 VAR_035851 + Q9Y4F1:p.Arg714Leu chr7 150212063 150212066 VAR_042200 - Q14296:p.Val424Leu chr7 150211954 150211957 VAR_021970 - Q14296:p.Ala436Val chrX 150555186 150555189 VAR_016917 + Q969F0:p.Ala10Val chrX 150555258 150555261 VAR_016918 + Q969F0:p.Ile34Thr chrX 150560973 150560976 VAR_016919 + Q969F0:p.Ser125Arg chr16 52480337 52480340 VAR_032078 + Q9C0B1:p.Ala405Val chr1 15842238 15842241 VAR_022842 + Q8WUP2:p.Ser191Phe chr2 56016631 56016634 VAR_009512 - Q12805:p.Ile220Phe chr2 56009874 56009877 VAR_009513 - Q12805:p.Arg345Trp chr11 65395399 65395402 VAR_027019 - O95967:p.Glu57Lys chr11 65392626 65392629 VAR_027020 - O95967:p.Ile259Val chr14 91473242 91473245 VAR_019814 - Q9UBX5:p.Val60Leu chr14 91473209 91473212 VAR_019815 - Q9UBX5:p.Arg71Gln chr14 91473161 91473164 VAR_019816 - Q9UBX5:p.Pro87Ser chr14 91427429 91427432 VAR_019817 - Q9UBX5:p.Ile169Thr chr14 91423347 91423350 VAR_017153 - Q9UBX5:p.Ser227Pro chr14 91413715 91413718 VAR_019818 - Q9UBX5:p.Arg351Trp chr14 91413679 91413682 VAR_019819 - Q9UBX5:p.Ala363Thr chr14 91413676 91413679 VAR_026986 - Q9UBX5:p.Asp364Tyr chr14 91406431 91406434 VAR_019820 - Q9UBX5:p.Gly412Glu chr2 112638927 112638930 VAR_037689 + Q53RD9:p.Val119Met chr15 46724198 46724201 VAR_023859 - P35555:p.Tyr20Cys chr15 46724177 46724180 VAR_014663 - P35555:p.Ala27Thr chr15 46692559 46692562 VAR_017967 - P35555:p.Arg62Cys chr15 46690295 46690298 VAR_017968 - P35555:p.Cys89Phe chr15 46690229 46690232 VAR_002276 - P35555:p.Cys111Arg chr15 46690220 46690223 VAR_017969 - P35555:p.Arg114Cys chr15 46690217 46690220 VAR_017970 - P35555:p.Ser115Cys chr15 46679703 46679706 VAR_002277 - P35555:p.Arg122Cys chr15 46679700 46679703 VAR_023860 - P35555:p.Cys123Tyr chr15 46679682 46679685 VAR_002278 - P35555:p.Cys129Tyr chr15 46675847 46675850 VAR_017971 - P35555:p.Cys154Ser chr15 46675811 46675814 VAR_002279 - P35555:p.Cys166Phe chr15 46675811 46675814 VAR_002280 - P35555:p.Cys166Ser chr15 46675778 46675781 VAR_023861 - P35555:p.Cys177Arg chr15 46617184 46617187 VAR_002281 - P35555:p.Trp217Gly chr15 46617163 46617166 VAR_023862 - P35555:p.Cys224Arg chr15 46617115 46617118 VAR_017972 - P35555:p.Arg240Cys chr15 46600196 46600199 VAR_017973 - P35555:p.Trp366Cys chr15 46595681 46595684 VAR_023863 - P35555:p.Arg439Gly chr15 46594915 46594918 VAR_002282 - P35555:p.Cys476Gly chr15 46593113 46593116 VAR_010776 - P35555:p.Cys504Phe chr15 46593104 46593107 VAR_023864 - P35555:p.507del chr15 46589623 46589626 VAR_023865 - P35555:p.Cys541Tyr chr15 46589611 46589614 VAR_002284 - P35555:p.Arg545Cys chr15 46589602 46589605 VAR_002285 - P35555:p.Asn548Ile chr15 46589566 46589569 VAR_017974 - P35555:p.Gly560Ser chr15 46589536 46589539 VAR_017975 - P35555:p.Cys570Tyr chr15 46588146 46588149 VAR_002286 - P35555:p.Cys587Tyr chr15 46588131 46588134 VAR_017976 - P35555:p.Gly592Asp chr15 46588119 46588122 VAR_017977 - P35555:p.Cys596Tyr chr15 46588113 46588116 VAR_017978 - P35555:p.Cys598Trp chr15 46584592 46584595 VAR_002287 - P35555:p.Arg627Cys chr15 46584589 46584592 VAR_023866 - P35555:p.Cys628Lys chr15 46584574 46584589 VAR_023867 - P35555:p.629_633del chr15 46584568 46584571 VAR_023868 - P35555:p.Tyr635Cys chr15 46584565 46584568 VAR_023869 - P35555:p.Arg636Ile chr15 46584517 46584520 VAR_017979 - P35555:p.Cys652Ser chr15 46583405 46583408 VAR_002288 - P35555:p.Cys661Arg chr15 46583405 46583408 VAR_017981 - P35555:p.Cys661Tyr chr15 46583345 46583348 VAR_017982 - P35555:p.Ser681Tyr chr15 46583339 46583342 VAR_017983 - P35555:p.Cys683Arg chr15 46583333 46583336 VAR_017984 - P35555:p.Cys685Trp chr15 46578507 46578510 VAR_002290 - P35555:p.Cys711Tyr chr15 46576845 46576848 VAR_017986 - P35555:p.Cys734Phe chr15 46576809 46576812 VAR_002292 - P35555:p.Tyr746Cys chr15 46576803 46576806 VAR_017987 - P35555:p.Cys748Tyr chr15 46576797 46576800 VAR_002293 - P35555:p.Cys750Gly chr15 46575679 46575682 VAR_017988 - P35555:p.Cys776Gly chr15 46575679 46575682 VAR_017989 - P35555:p.Cys776Tyr chr15 46575664 46575667 VAR_017990 - P35555:p.Cys781Arg chr15 46575664 46575667 VAR_023870 - P35555:p.Cys781Tyr chr15 46575048 46575051 VAR_017991 - P35555:p.Cys816Ser chr15 46575000 46575003 VAR_023871 - P35555:p.Cys832Tyr chr15 46574702 46574705 VAR_002294 - P35555:p.Cys862Arg chr15 46574618 46574621 VAR_023872 - P35555:p.Cys890Gly chr15 46574618 46574621 VAR_017992 - P35555:p.Cys890Arg chr15 46573696 46573699 VAR_017993 - P35555:p.Cys908Arg chr15 46572064 46572067 VAR_017994 - P35555:p.Glu913Gly chr15 46572040 46572043 VAR_017995 - P35555:p.Cys921Gly chr15 46572025 46572028 VAR_002295 - P35555:p.Cys926Arg chr15 46569469 46569472 VAR_002296 - P35555:p.Val984Ile chr15 46569466 46569469 VAR_018319 - P35555:p.Gly985Glu chr15 46569466 46569469 VAR_017996 - P35555:p.Gly985Arg chr15 46569433 46569436 VAR_002297 - P35555:p.Cys996Arg chr15 46569382 46569385 VAR_002298 - P35555:p.Gly1013Arg chr15 46569352 46569355 VAR_002299 - P35555:p.Lys1023Asn chr15 46567935 46567938 VAR_002300 - P35555:p.Lys1043Arg chr15 46567932 46567935 VAR_017997 - P35555:p.Cys1044Tyr chr15 46567920 46567923 VAR_002301 - P35555:p.Ile1048Thr chr15 46567920 46567923 VAR_002302 - P35555:p.1048del chr15 46567905 46567908 VAR_002303 - P35555:p.Cys1053Arg chr15 46567899 46567902 VAR_002304 - P35555:p.Cys1055Gly chr15 46567899 46567902 VAR_017998 - P35555:p.Cys1055Trp chr15 46567899 46567902 VAR_017999 - P35555:p.Cys1055Tyr chr15 46567890 46567893 VAR_023873 - P35555:p.Gly1058Asp chr15 46567890 46567893 VAR_002305 - P35555:p.Gly1058Gly chr15 46567722 46567725 VAR_002306 - P35555:p.Asp1072Gly chr15 46567719 46567722 VAR_002307 - P35555:p.Glu1073Lys chr15 46567716 46567719 VAR_002308 - P35555:p.Cys1074Arg chr15 46567680 46567683 VAR_002309 - P35555:p.Cys1086Trp chr15 46567635 46567638 VAR_018000 - P35555:p.Tyr1101Cys chr15 46566912 46566915 VAR_002310 - P35555:p.Cys1117Gly chr15 46566912 46566915 VAR_002311 - P35555:p.Cys1117Tyr chr15 46566882 46566885 VAR_002312 - P35555:p.Gly1127Ser chr15 46566879 46566882 VAR_018001 - P35555:p.Val1128Ile chr15 46566876 46566879 VAR_010777 - P35555:p.Cys1129Tyr chr15 46566870 46566873 VAR_002313 - P35555:p.Asn1131Tyr chr15 46566852 46566855 VAR_002314 - P35555:p.Arg1137Pro chr15 46566819 46566822 VAR_002315 - P35555:p.Pro1148Ala chr15 46566804 46566807 VAR_023875 - P35555:p.Cys1153Ser chr15 46566804 46566807 VAR_002316 - P35555:p.Cys1153Tyr chr15 46566642 46566645 VAR_002318 - P35555:p.Arg1170His chr15 46566639 46566642 VAR_002319 - P35555:p.Cys1171Trp chr15 46566633 46566636 VAR_002320 - P35555:p.Asn1173Lys chr15 46564974 46564977 VAR_018002 - P35555:p.Glu1200Gly chr15 46564941 46564944 VAR_023876 - P35555:p.1211del chr15 46564917 46564920 VAR_023877 - P35555:p.Tyr1219Cys chr15 46564905 46564908 VAR_002321 - P35555:p.Cys1223Tyr chr15 46563418 46563421 VAR_002322 - P35555:p.Cys1242Tyr chr15 46563397 46563400 VAR_002323 - P35555:p.Cys1249Ser chr15 46563361 46563364 VAR_010778 - P35555:p.Tyr1261Cys chr15 46563361 46563364 VAR_023878 - P35555:p.Tyr1261Asp chr15 46563349 46563352 VAR_018320 - P35555:p.Cys1265Arg chr15 46563310 46563313 VAR_023879 - P35555:p.Cys1278Ser chr15 46561255 46561258 VAR_023880 - P35555:p.Cys1284Gly chr15 46554128 46554131 VAR_018003 - P35555:p.Glu1325Gln chr15 46554104 46554107 VAR_023881 - P35555:p.Cys1333Ser chr15 46554092 46554095 VAR_018004 - P35555:p.Ala1337Pro chr15 46554086 46554089 VAR_018005 - P35555:p.Cys1339Tyr chr15 46553855 46553858 VAR_018006 - P35555:p.Glu1366Lys chr15 46553831 46553834 VAR_018007 - P35555:p.Cys1374Ser chr15 46553807 46553810 VAR_002324 - P35555:p.Asn1382Ser chr15 46553786 46553789 VAR_018008 - P35555:p.Cys1389Arg chr15 46553765 46553774 VAR_018009 - P35555:p.1394_1396del chr15 46553747 46553750 VAR_023882 - P35555:p.Cys1402Arg chr15 46552103 46552106 VAR_018010 - P35555:p.Pro1424Ala chr15 46552103 46552106 VAR_023883 - P35555:p.Pro1424Ser chr15 46552088 46552091 VAR_018011 - P35555:p.Cys1429Ser chr15 46550156 46550159 VAR_023884 - P35555:p.Gly1475Glu chr15 46550156 46550159 VAR_023885 - P35555:p.Gly1475Ser chr15 46547943 46547946 VAR_002326 - P35555:p.Cys1513Arg chr15 46547583 46547586 VAR_018012 - P35555:p.Arg1530Cys chr15 46547481 46547484 VAR_023886 - P35555:p.Cys1564Phe chr15 46547481 46547484 VAR_018013 - P35555:p.Cys1564Tyr chr15 46547445 46547448 VAR_023887 - P35555:p.Met1576Thr chr15 46545327 46545330 VAR_002327 - P35555:p.Cys1589Phe chr15 46545168 46545171 VAR_002328 - P35555:p.Cys1610Gly chr15 46545105 46545108 VAR_023888 - P35555:p.Cys1631Gly chr15 46543463 46543466 VAR_002329 - P35555:p.Cys1663Arg chr15 46543463 46543466 VAR_023889 - P35555:p.Cys1663Tyr chr15 46542697 46542721 VAR_018014 - P35555:p.1692_1699del chr15 46536237 46536240 VAR_018015 - P35555:p.Cys1770Phe chr15 46536177 46536180 VAR_018016 - P35555:p.Arg1790Pro chr15 46536174 46536177 VAR_023890 - P35555:p.Cys1791Arg chr15 46536174 46536177 VAR_018017 - P35555:p.Cys1791Tyr chr15 46536168 46536171 VAR_018018 - P35555:p.Cys1793Trp chr15 46536159 46536162 VAR_018019 - P35555:p.Gly1796Glu chr15 46536129 46536132 VAR_018020 - P35555:p.Cys1806Ser chr15 46536129 46536132 VAR_023891 - P35555:p.Cys1806Tyr chr15 46532096 46532099 VAR_010779 - P35555:p.Cys1833Ser chr15 46532090 46532093 VAR_018021 - P35555:p.Cys1835Tyr chr15 46532084 46532087 VAR_002330 - P35555:p.Pro1837Ser chr15 46528299 46528302 VAR_023892 - P35555:p.Cys1876Tyr chr15 46528266 46528269 VAR_023893 - P35555:p.Thr1887Ile chr15 46526303 46526306 VAR_002331 - P35555:p.Asn1893Lys chr15 46526297 46526300 VAR_023894 - P35555:p.Cys1895Arg chr15 46526282 46526285 VAR_023895 - P35555:p.Cys1900Tyr chr15 46526255 46526258 VAR_018022 - P35555:p.Ile1909Thr chr15 46526237 46526240 VAR_018023 - P35555:p.Arg1915Ser chr15 46526198 46526201 VAR_023896 - P35555:p.Cys1928Gly chr15 46526198 46526201 VAR_002332 - P35555:p.Cys1928Arg chr15 46526198 46526201 VAR_023897 - P35555:p.Cys1928Tyr chr15 46524988 46524991 VAR_018024 - P35555:p.1931del chr15 46524868 46524871 VAR_018025 - P35555:p.Cys1971Tyr chr15 46524135 46524138 VAR_018026 - P35555:p.Cys1977Tyr chr15 46524072 46524075 VAR_018027 - P35555:p.Cys1998Tyr chr15 46521258 46521261 VAR_023898 - P35555:p.Cys2038Tyr chr15 46517314 46517317 VAR_023899 - P35555:p.Cys2085Arg chr15 46517272 46517275 VAR_002333 - P35555:p.Cys2099Trp chr15 46517266 46517269 VAR_018028 - P35555:p.Thr2101Met chr15 46516856 46516859 VAR_018029 - P35555:p.Cys2111Arg chr15 46516856 46516859 VAR_002334 - P35555:p.Cys2111Tyr chr15 46516519 46516522 VAR_010780 - P35555:p.Cys2142Tyr chr15 46516513 46516516 VAR_002336 - P35555:p.Asn2144Ser chr15 46516492 46516495 VAR_002337 - P35555:p.Cys2151Trp chr15 46516483 46516486 VAR_018030 - P35555:p.Pro2154Arg chr15 46516465 46516468 VAR_023900 - P35555:p.Ala2160Pro chr15 46512430 46512433 VAR_023901 - P35555:p.Cys2221Phe chr15 46512430 46512433 VAR_018031 - P35555:p.Cys2221Gly chr15 46512430 46512433 VAR_002338 - P35555:p.Cys2221Ser chr15 46512424 46512427 VAR_018032 - P35555:p.Asn2223His chr15 46510277 46510280 VAR_023902 - P35555:p.Cys2251Arg chr15 46510256 46510259 VAR_002339 - P35555:p.Cys2258Arg chr15 46510223 46510226 VAR_018033 - P35555:p.Ile2269Thr chr15 46510184 46510187 VAR_002340 - P35555:p.Arg2282Trp chr15 46507910 46507913 VAR_002341 - P35555:p.Cys2307Ser chr15 46507254 46507257 VAR_018034 - P35555:p.Arg2335Trp chr15 46507242 46507245 VAR_018035 - P35555:p.Cys2339Tyr chr15 46507104 46507107 VAR_023903 - P35555:p.Ala2385Thr chr15 46505339 46505342 VAR_018036 - P35555:p.Cys2406Tyr chr15 46505231 46505234 VAR_018037 - P35555:p.Cys2442Trp chr15 46504969 46504972 VAR_002342 - P35555:p.Glu2447Lys chr15 46504888 46504891 VAR_018038 - P35555:p.Tyr2474Cys chr15 46501543 46501546 VAR_002343 - P35555:p.Cys2489Arg chr15 46501510 46501513 VAR_023904 - P35555:p.Cys2500Arg chr15 46501510 46501513 VAR_023905 - P35555:p.Cys2500Tyr chr15 46501477 46501480 VAR_002344 - P35555:p.Cys2511Arg chr15 46501140 46501143 VAR_023906 - P35555:p.Cys2535Trp chr15 46501137 46501140 VAR_023907 - P35555:p.Gly2536Arg chr15 46500284 46500287 VAR_023908 - P35555:p.Glu2570Lys chr15 46500281 46500284 VAR_023909 - P35555:p.Cys2571Arg chr15 46500251 46500254 VAR_018039 - P35555:p.Cys2581Phe chr15 46500239 46500242 VAR_018040 - P35555:p.Ile2585Thr chr15 46500218 46500221 VAR_023910 - P35555:p.Cys2592Ser chr15 46500179 46500182 VAR_023911 - P35555:p.Cys2605Arg chr15 46500179 46500182 VAR_023912 - P35555:p.Cys2605Tyr chr15 46495245 46495248 VAR_023913 - P35555:p.Glu2610Lys chr15 46495221 46495224 VAR_018041 - P35555:p.Gly2618Arg chr15 46495206 46495209 VAR_002345 - P35555:p.His2623Pro chr15 46495203 46495206 VAR_018042 - P35555:p.Asn2624Lys chr15 46495194 46495197 VAR_002346 - P35555:p.Gly2627Arg chr15 46495188 46495191 VAR_023914 - P35555:p.Tyr2629Cys chr15 46495119 46495122 VAR_018043 - P35555:p.Cys2652Gly chr15 46495086 46495089 VAR_023915 - P35555:p.Cys2663Ser chr15 46495071 46495074 VAR_018044 - P35555:p.Gly2668Cys chr15 46495035 46495038 VAR_002347 - P35555:p.Arg2680Cys chr15 46492105 46492108 VAR_002348 - P35555:p.Arg2726Trp chr19 8116814 8116817 VAR_019493 - Q75N90:p.Gly119Ala chr19 8107119 8107122 VAR_019494 - Q75N90:p.Arg473Gln chr19 8094818 8094821 VAR_019496 - Q75N90:p.Arg935Leu chr19 8094809 8094812 VAR_019497 - Q75N90:p.Val938Phe chr19 8089868 8089871 VAR_019498 - Q75N90:p.Arg1083Trp chr19 8082942 8082945 VAR_019499 - Q75N90:p.Ser1293Asn chr19 8082637 8082640 VAR_019500 - Q75N90:p.Val1326Ile chr19 8067448 8067451 VAR_019502 - Q75N90:p.Arg1806Gln chr19 8066896 8066899 VAR_019503 - Q75N90:p.Asn1869Lys chr19 8066331 8066334 VAR_019504 - Q75N90:p.Leu1904Pro chr19 8065360 8065363 VAR_019505 - Q75N90:p.Pro1958His chr17 18588348 18588351 VAR_038341 + Q5XX13:p.Ile23Asn chr10 103288088 103288091 VAR_022027 + Q9Y297:p.Ala543Ser chr10 103300562 103300565 VAR_020119 + Q9Y297:p.Pro592His chr8 28377164 28377167 VAR_020409 - Q8IX29:p.Arg75Gln chr8 28360687 28360690 VAR_024442 - Q8IX29:p.Met254Ile chr6 146169210 146169213 VAR_036072 - Q8TB52:p.Ser8Cys chr6 146168109 146168112 VAR_024443 - Q8TB52:p.Val375Met chr6 146167485 146167488 VAR_020410 - Q8TB52:p.His583Gln chr14 54888268 54888271 VAR_021489 + Q9NWN3:p.Ile470Asn chr14 54888457 54888460 VAR_021490 + Q9NWN3:p.Leu533Pro chr5 147785312 147785315 VAR_028099 + Q6PIJ6:p.Ser592Pro chr17 6623938 6623941 VAR_024444 + Q8N4B4:p.Pro10Ser chr17 6624601 6624604 VAR_024445 + Q8N4B4:p.Leu231Phe chr17 6630885 6630888 VAR_024446 + Q8N4B4:p.Ile363Met chr1 16323211 16323214 VAR_024447 - Q6P3S6:p.Pro471Ala chr6 153388652 153388655 VAR_024440 - Q9UKT4:p.Gln107Glu chr1 11667690 11667693 VAR_022158 + Q9NRD1:p.Pro201Thr chr4 175533445 175533448 VAR_036157 - Q9NRD0:p.Leu269Ile chr3 33391801 33391804 VAR_036071 + Q9UKC9:p.Val226Met chr4 153690215 153690218 VAR_017812 - Q969H0:p.Glu115Lys chr4 153690209 153690212 VAR_033030 - Q969H0:p.Glu117Lys chr4 153690161 153690164 VAR_017813 - Q969H0:p.Arg133Gly chr4 153690128 153690131 VAR_017814 - Q969H0:p.Thr144Arg chr4 153606987 153606990 VAR_017815 - Q969H0:p.Arg465Cys chr4 153606987 153606990 VAR_035880 - Q969H0:p.Arg465His chr4 153604891 153604894 VAR_017816 - Q969H0:p.Arg505Leu chr4 153603049 153603052 VAR_035881 - Q969H0:p.Ser582Leu chr4 153601757 153601760 VAR_017817 - Q969H0:p.Ser668Gly chr19 7669245 7669248 VAR_035387 - P06734:p.Arg62Trp chr19 7660192 7660195 VAR_035388 - P06734:p.Arg284Gln chr1 156086963 156086966 VAR_020091 + P12319:p.Lys84Arg chr1 156087014 156087017 VAR_020092 + P12319:p.Ser101Asn chr11 59619678 59619681 VAR_003965 + Q01362:p.Glu237Gly chr1 158292798 158292801 VAR_003955 + P12318:p.His167Arg chr1 158331386 158331389 VAR_008800 - P08637:p.Leu66His chr1 158331386 158331389 VAR_008799 - P08637:p.Leu66Arg chr1 158327651 158327654 VAR_008801 - P08637:p.Phe157Val chr1 158327594 158327597 VAR_003960 - P08637:p.Phe176Val chr1 158331266 158331269 VAR_003964 - O75015:p.Ile106Val chr19 45100658 45100661 VAR_028903 - Q9Y6R7:p.Val1340Leu chr19 45097837 45097840 VAR_028904 - Q9Y6R7:p.Gly1616Val chr19 45097834 45097837 VAR_028905 - Q9Y6R7:p.Met1617Val chr19 45091267 45091270 VAR_028906 - Q9Y6R7:p.Asn2089Asp chr19 45084405 45084408 VAR_028907 - Q9Y6R7:p.Glu2646Asp chr19 45084402 45084405 VAR_028908 - Q9Y6R7:p.Glu2647Lys chr19 45083846 45083849 VAR_028909 - Q9Y6R7:p.Ala2793Val chr19 45081579 45081582 VAR_028910 - Q9Y6R7:p.Val2814Ala chr19 45075657 45075660 VAR_028911 - Q9Y6R7:p.Gly3264Ser chr19 45068501 45068504 VAR_028912 - Q9Y6R7:p.His3920Gln chr19 45065872 45065875 VAR_028913 - Q9Y6R7:p.Val4015Ala chr19 45062220 45062223 VAR_028914 - Q9Y6R7:p.Gly4095Asp chr19 45055763 45055766 VAR_028916 - Q9Y6R7:p.Asp4906His chr1 146572999 146573002 VAR_019522 + P12314:p.Leu105Pro chr5 72384027 72384030 VAR_029636 + Q0JRZ9:p.Met371Val chr9 135030896 135030899 VAR_024450 - O00602:p.Tyr126His chr9 135030349 135030352 VAR_036341 - O00602:p.Tyr175Cys chr1 156598497 156598500 VAR_031090 + Q6DN72:p.Ser427Gly chr1 158414741 158414744 VAR_025646 + Q7L513:p.Arg349Gln chr5 141006365 141006368 VAR_030692 - Q86WN1:p.Asn344Lys chr5 141001278 141001281 VAR_030693 - Q86WN1:p.Pro681Leu chr8 11703744 11703747 VAR_011786 + P37268:p.Lys45Arg chr8 11733446 11733449 VAR_011787 + P37268:p.Leu392Pro chr20 6013727 6013730 VAR_014398 - Q9BQL6:p.Arg526Lys chr20 6012802 6012805 VAR_014399 - Q9BQL6:p.Ala534Thr chr5 108199307 108199310 VAR_041691 + P16591:p.Val128Phe chr5 108261421 108261424 VAR_041692 + P16591:p.Glu404Gln chr5 108261445 108261448 VAR_041693 + P16591:p.Met412Val chr5 108309807 108309810 VAR_006282 + P16591:p.Leu439Val chr5 108309819 108309822 VAR_041694 + P16591:p.Ala443Pro chr5 108318376 108318379 VAR_041695 + P16591:p.Trp460Cys chr5 108551142 108551145 VAR_041696 + P16591:p.Glu813Gln chr4 74673123 74673126 VAR_033928 + P02771:p.Lys187Gln chr4 74684571 74684574 VAR_012049 + P02771:p.Ala570Gly chr3 187821142 187821145 VAR_012474 + P02765:p.Asp276Asn chr3 187821265 187821268 VAR_012475 + P02765:p.Arg317Cys chr3 187846747 187846750 VAR_024449 + Q9UGM5:p.Gly202Ser chr11 124856681 124856684 VAR_020461 - Q99689:p.Asp123Glu chr19 40534924 40534927 VAR_020076 + O14842:p.Arg211His chr19 40633086 40633089 VAR_011861 + O15552:p.Leu211His chrX 54380080 54380083 VAR_019268 - P98174:p.Ser205Ile chrX 54379634 54379637 VAR_019269 - P98174:p.Pro312Leu chrX 54378291 54378294 VAR_019270 - P98174:p.Glu380Ala chrX 54377248 54377251 VAR_019271 - P98174:p.Arg443His chrX 54374974 54374977 VAR_015236 - P98174:p.Arg522His chrX 54365685 54365688 VAR_015237 - P98174:p.Arg610Gln chr6 37084612 37084615 VAR_021491 + Q7Z6J4:p.Gln32His chr9 92848002 92848005 VAR_021492 + Q5JSP0:p.Val275Ile chr12 32646416 32646419 VAR_034957 + Q96M96:p.Met298Arg chr12 94106756 94106759 VAR_024286 - Q6ZV73:p.Gln257Arg chr5 44424223 44424226 VAR_029888 - O15520:p.Cys106Phe chr5 44341012 44341015 VAR_029889 - O15520:p.Ile156Arg chr17 7286714 7286717 VAR_018886 + Q92914:p.Arg163Gly chrX 137443147 137443150 VAR_020945 - Q92913:p.Lys197Gln chr13 101366870 101366873 VAR_022735 - Q92915:p.Gly42Cys chr13 101177134 101177137 VAR_022736 - Q92915:p.Phe145Ser chr5 141973813 141973816 VAR_021357 - P05230:p.Gly21Glu chr8 16897576 16897579 VAR_020946 - Q9NP95:p.Gly116Arg chr8 16895062 16895065 VAR_020947 - Q9NP95:p.Pro175Ala chr8 16894969 16894972 VAR_020948 - Q9NP95:p.Asp206Asn chr12 4349997 4350000 VAR_010717 - Q9GZV9:p.Arg176Gln chr12 4349988 4349991 VAR_010719 - Q9GZV9:p.Arg179Gln chr12 4349988 4349991 VAR_010718 - Q9GZV9:p.Arg179Trp chr12 4349940 4349943 VAR_018887 - Q9GZV9:p.Pro195Ser chr12 4349808 4349811 VAR_010720 - Q9GZV9:p.Thr239Met chr11 69334505 69334508 VAR_031848 - P11487:p.Ser156Pro chr4 81545316 81545319 VAR_025174 + P12034:p.Met54Val chr12 4424889 4424892 VAR_018882 - P10767:p.Val36Ala chr12 4424808 4424811 VAR_018883 - P10767:p.Ala63Val chr12 4413746 4413749 VAR_018884 - P10767:p.Asp174Val chr12 4413695 4413698 VAR_018885 - P10767:p.Arg191Trp chr13 21153182 21153185 VAR_020944 + P31371:p.Ile94Val chr10 93658088 93658091 VAR_026888 - Q8TAT2:p.Glu206Val chr8 38434055 38434058 VAR_019290 - P11362:p.Arg22Ser chr8 38406570 38406573 VAR_030968 - P11362:p.Gly48Ser chr8 38406483 38406486 VAR_030969 - P11362:p.Asn77Lys chr8 38406480 38406483 VAR_030970 - P11362:p.Arg78Cys chr8 38406423 38406426 VAR_017885 - P11362:p.Gly97Asp chr8 38406417 38406420 VAR_017886 - P11362:p.Tyr99Cys chr8 38406411 38406414 VAR_030971 - P11362:p.Cys101Phe chr8 38406408 38406411 VAR_030972 - P11362:p.Val102Ile chr8 38405093 38405096 VAR_042201 - P11362:p.Ser125Leu chr8 38405081 38405084 VAR_030973 - P11362:p.Asp129Ala chr8 38404715 38404718 VAR_017887 - P11362:p.Ala167Ser chr8 38404682 38404685 VAR_030974 - P11362:p.Cys178Ser chr8 38402902 38402905 VAR_030975 - P11362:p.Trp213Gly chr8 38402869 38402872 VAR_030976 - P11362:p.Asp224His chr8 38402830 38402833 VAR_030977 - P11362:p.Gly237Asp chr8 38402830 38402833 VAR_030978 - P11362:p.Gly237Ser chr8 38402806 38402809 VAR_030979 - P11362:p.Leu245Pro chr8 38401369 38401372 VAR_030980 - P11362:p.Arg250Trp chr8 38401363 38401366 VAR_004111 - P11362:p.Pro252Arg chr8 38401363 38401366 VAR_042202 - P11362:p.Pro252Thr chr8 38401357 38401360 VAR_030981 - P11362:p.Arg254Gln chr8 38401309 38401312 VAR_030982 - P11362:p.Gly270Asp chr8 38401300 38401303 VAR_030983 - P11362:p.Val273Met chr8 38401297 38401300 VAR_030984 - P11362:p.Glu274Gly chr8 38401288 38401291 VAR_017888 - P11362:p.Cys277Tyr chr8 38401270 38401273 VAR_030985 - P11362:p.Pro283Arg chr8 38401219 38401222 VAR_030986 - P11362:p.Ile300Thr chr8 38398562 38398565 VAR_030987 - P11362:p.Asn330Ile chr8 38398556 38398559 VAR_030988 - P11362:p.Ser332Cys chr8 38398535 38398538 VAR_030989 - P11362:p.Tyr339Cys chr8 38398523 38398526 VAR_030990 - P11362:p.Ala343Val chr8 38398514 38398517 VAR_030991 - P11362:p.Ser346Cys chr8 38396393 38396396 VAR_030992 - P11362:p.Pro366Leu chr8 38396369 38396372 VAR_030993 - P11362:p.Tyr374Cys chr8 38396348 38396351 VAR_030994 - P11362:p.Cys381Arg chr8 38394083 38394086 VAR_030995 - P11362:p.Ala520Thr chr8 38394029 38394032 VAR_030996 - P11362:p.Ile538Val chr8 38392577 38392580 VAR_017889 - P11362:p.Val607Met chr8 38391567 38391570 VAR_030997 - P11362:p.His621Arg chr8 38391564 38391567 VAR_030998 - P11362:p.Arg622Gly chr8 38391564 38391567 VAR_030999 - P11362:p.Arg622Gln chr8 38391289 38391292 VAR_042203 - P11362:p.Val664Leu chr8 38391283 38391286 VAR_017890 - P11362:p.Trp666Arg chr8 38390957 38390960 VAR_031000 - P11362:p.Ser685Phe chr8 38390951 38390954 VAR_031001 - P11362:p.Gly687Arg chr8 38390933 38390936 VAR_031002 - P11362:p.Ile693Phe chr8 38390903 38390906 VAR_031003 - P11362:p.Gly703Arg chr8 38390903 38390906 VAR_031004 - P11362:p.Gly703Ser chr8 38390855 38390858 VAR_017891 - P11362:p.Met719Arg chr8 38390846 38390849 VAR_031005 - P11362:p.Pro722His chr8 38390846 38390849 VAR_031006 - P11362:p.Pro722Ser chr8 38390840 38390843 VAR_031007 - P11362:p.Asn724Lys chr8 38390649 38390652 VAR_031008 - P11362:p.Pro745Ser chr8 38390464 38390467 VAR_031009 - P11362:p.Leu769Val chr8 38390455 38390458 VAR_017892 - P11362:p.Pro772Ser chr8 38390386 38390389 VAR_031010 - P11362:p.Val795Ile chr8 38390317 38390320 VAR_019291 - P11362:p.Gly818Arg chr8 38390305 38390308 VAR_019292 - P11362:p.Arg822Cys chr10 123343303 123343306 VAR_017258 - P21802:p.Arg6Pro chr10 123315146 123315149 VAR_042204 - P21802:p.Ser57Leu chr10 123315002 123315005 VAR_004112 - P21802:p.Tyr105Cys chr10 123300901 123300904 VAR_017259 - P21802:p.Ala172Phe chr10 123300859 123300862 VAR_017260 - P21802:p.Met186Thr chr10 123300808 123300811 VAR_036380 - P21802:p.Arg203Cys chr10 123269662 123269668 VAR_004116 - P21802:p.Ser252_Pro253delinsPheSer chr10 123269665 123269668 VAR_004114 - P21802:p.Ser252Phe chr10 123269665 123269668 VAR_004113 - P21802:p.Ser252Leu chr10 123269665 123269668 VAR_004115 - P21802:p.Ser252Trp chr10 123269662 123269665 VAR_004117 - P21802:p.Pro253Arg chr10 123269632 123269635 VAR_017261 - P21802:p.Pro263Leu chr10 123269620 123269623 VAR_004118 - P21802:p.Ser267Pro chr10 123269617 123269620 VAR_004119 - P21802:p.Thr268Thr chr10 123269605 123269608 VAR_042205 - P21802:p.Gly272Val chr10 123269602 123269605 VAR_017262 - P21802:p.273del chr10 123269593 123269596 VAR_004120 - P21802:p.Phe276Val chr10 123269587 123269590 VAR_004121 - P21802:p.Cys278Phe chr10 123269587 123269590 VAR_017263 - P21802:p.Cys278Tyr chr10 123269578 123269581 VAR_017264 - P21802:p.Tyr281Cys chr10 123269572 123269575 VAR_042206 - P21802:p.Asp283Asn chr10 123269554 123269563 VAR_004122 - P21802:p.287_289del chr10 123269557 123269560 VAR_017265 - P21802:p.Ile288Ser chr10 123269554 123269557 VAR_004123 - P21802:p.Gln289Pro chr10 123269551 123269554 VAR_004124 - P21802:p.Trp290Cys chr10 123269551 123269554 VAR_017266 - P21802:p.Trp290Gly chr10 123269551 123269554 VAR_004125 - P21802:p.Trp290Arg chr10 123269545 123269548 VAR_004126 - P21802:p.Lys292Glu chr10 123269518 123269521 VAR_004127 - P21802:p.Tyr301Cys chr10 123266964 123266967 VAR_004128 - P21802:p.Ala314Ser chr10 123266961 123266964 VAR_017267 - P21802:p.Ala315Ser chr10 123266943 123266946 VAR_004129 - P21802:p.Asp321Ala chr10 123266922 123266925 VAR_004130 - P21802:p.Tyr328Cys chr10 123266913 123266916 VAR_004131 - P21802:p.Asn331Ile chr10 123266895 123266898 VAR_004132 - P21802:p.Ala337Ala chr10 123266895 123266898 VAR_017268 - P21802:p.Ala337Pro chr10 123266892 123266895 VAR_004133 - P21802:p.Gly338Glu chr10 123266892 123266895 VAR_015011 - P21802:p.Gly338Arg chr10 123266886 123266889 VAR_017269 - P21802:p.Tyr340Cys chr10 123266886 123266889 VAR_004134 - P21802:p.Tyr340His chr10 123266883 123266886 VAR_004135 - P21802:p.Thr341Pro chr10 123266880 123266883 VAR_004136 - P21802:p.Cys342Phe chr10 123266880 123266883 VAR_017270 - P21802:p.Cys342Gly chr10 123266880 123266883 VAR_004137 - P21802:p.Cys342Arg chr10 123266880 123266883 VAR_004138 - P21802:p.Cys342Ser chr10 123266880 123266883 VAR_017271 - P21802:p.Cys342Trp chr10 123266880 123266883 VAR_004139 - P21802:p.Cys342Tyr chr10 123266874 123266877 VAR_004140 - P21802:p.Ala344Gly chr10 123266874 123266877 VAR_004141 - P21802:p.Ala344Pro chr10 123266865 123266868 VAR_004142 - P21802:p.Ser347Cys chr10 123266853 123266856 VAR_004143 - P21802:p.Ser351Cys chr10 123266844 123266847 VAR_004144 - P21802:p.Ser354Cys chr10 123266844 123266847 VAR_017272 - P21802:p.Ser354Tyr chr10 123266832 123266841 VAR_004145 - P21802:p.356_358del chr10 123266829 123266832 VAR_004146 - P21802:p.Val359Phe chr10 123264791 123264794 VAR_017274 - P21802:p.Ser372Cys chr10 123264782 123264785 VAR_017275 - P21802:p.Tyr375Cys chr10 123264755 123264758 VAR_004147 - P21802:p.Gly384Arg chr10 123248092 123248095 VAR_023788 - P21802:p.Lys526Glu chr10 123248023 123248026 VAR_017276 - P21802:p.Asn549His chr10 123246203 123246206 VAR_017277 - P21802:p.Glu565Gly chr10 123246059 123246062 VAR_015012 - P21802:p.Gly613Arg chr10 123237596 123237599 VAR_029884 - P21802:p.Ala628Thr chr10 123237557 123237560 VAR_017278 - P21802:p.Lys641Arg chr10 123237536 123237539 VAR_029885 - P21802:p.Ala648Thr chr10 123237530 123237536 VAR_029886 - P21802:p.Arg649_Asp650delinsSer chr10 123237503 123237506 VAR_017279 - P21802:p.Lys659Asn chr10 123236925 123236928 VAR_017280 - P21802:p.Gly663Glu chr10 123236880 123236883 VAR_017281 - P21802:p.Arg678Gly chr4 1768294 1768297 VAR_022167 + P22607:p.Gly65Arg chr4 1768336 1768339 VAR_042207 + P22607:p.Thr79Ser chr4 1770643 1770646 VAR_042208 + P22607:p.Cys228Arg chr4 1770794 1770797 VAR_004148 + P22607:p.Arg248Cys chr4 1770797 1770800 VAR_004149 + P22607:p.Ser249Cys chr4 1770800 1770803 VAR_004150 + P22607:p.Pro250Arg chr4 1772682 1772685 VAR_018388 + P22607:p.Glu322Lys chr4 1772730 1772733 VAR_042209 + P22607:p.Thr338Met chr4 1773319 1773322 VAR_004151 + P22607:p.Gly370Cys chr4 1773322 1773325 VAR_004152 + P22607:p.Ser371Cys chr4 1773328 1773331 VAR_004153 + P22607:p.Tyr373Cys chr4 1773334 1773337 VAR_004154 + P22607:p.Gly375Cys chr4 1773349 1773352 VAR_004155 + P22607:p.Gly380Arg chr4 1773361 1773364 VAR_022168 + P22607:p.Phe384Leu chr4 1773382 1773385 VAR_004156 + P22607:p.Ala391Glu chr4 1773835 1773838 VAR_022169 + P22607:p.Ala441Thr chr4 1774518 1774521 VAR_029887 + P22607:p.Asp513Asn chr4 1774593 1774596 VAR_004157 + P22607:p.Ile538Val chr4 1774599 1774602 VAR_004158 + P22607:p.Asn540Lys chr4 1774599 1774602 VAR_018389 + P22607:p.Asn540Ser chr4 1774599 1774602 VAR_004159 + P22607:p.Asn540Thr chr4 1775032 1775035 VAR_029108 + P22607:p.Arg621His chr4 1775107 1775110 VAR_042210 + P22607:p.Asp646Asn chr4 1775119 1775122 VAR_004160 + P22607:p.Lys650Glu chr4 1775119 1775122 VAR_004161 + P22607:p.Lys650Met chr4 1775119 1775122 VAR_018390 + P22607:p.Lys650Gln chr4 1775621 1775624 VAR_022170 + P22607:p.Ala717Thr chr4 1775793 1775796 VAR_022171 + P22607:p.Ile726Phe chr5 176449236 176449239 VAR_029185 + P22455:p.Val10Ile chr5 176450401 176450404 VAR_042211 + P22455:p.Pro136Leu chr5 176450642 176450645 VAR_042212 + P22455:p.Thr179Ala chr5 176452848 176452851 VAR_014797 + P22455:p.Gly388Arg chr5 176454962 176454965 VAR_042213 + P22455:p.Asp516Asn chr7 76473602 76473605 VAR_013066 - Q14314:p.Gly53Glu chr4 1008533 1008536 VAR_022642 + Q8N441:p.Pro362Gln chr4 1008839 1008842 VAR_024316 + Q8N441:p.Pro464Leu chrX 30849367 30849370 VAR_033929 - Q9BXU8:p.Gln120His chr6 97165294 97165297 VAR_022824 + Q5TD97:p.Val211Met chr1 193696541 193696544 VAR_035827 + Q9BXR6:p.Asn216Ser chr4 155869426 155869429 VAR_011609 - P02671:p.Ile6Val chr4 155868295 155868298 VAR_002390 - P02671:p.Asp26Asn chr4 155868280 155868283 VAR_002391 - P02671:p.Gly31Val chr4 155868268 155868271 VAR_002392 - P02671:p.Arg35Cys chr4 155868268 155868271 VAR_002393 - P02671:p.Arg35His chr4 155868262 155868265 VAR_002394 - P02671:p.Pro37Leu chr4 155868259 155868262 VAR_002397 - P02671:p.Arg38Gly chr4 155868259 155868262 VAR_002395 - P02671:p.Arg38Asn chr4 155868259 155868262 VAR_002396 - P02671:p.Arg38Ser chr4 155868256 155868259 VAR_010730 - P02671:p.Val39Asp chr4 155867715 155867718 VAR_002398 - P02671:p.Ser66Thr chr4 155866298 155866301 VAR_002399 - P02671:p.Arg160Ser chr4 155865192 155865195 VAR_011610 - P02671:p.Thr331Ala chr4 155864847 155864850 VAR_014168 - P02671:p.Lys446Glu chr4 155864826 155864829 VAR_002400 - P02671:p.Ser453Asn chr4 155864817 155864820 VAR_011611 - P02671:p.Thr456Ala chr4 155864550 155864553 VAR_010731 - P02671:p.Glu545Val chr4 155864466 155864469 VAR_002401 - P02671:p.Arg573Cys chr4 155864466 155864469 VAR_010732 - P02671:p.Arg573Leu chr4 155841778 155841781 VAR_014169 + P02675:p.Lys2Glu chr4 155844564 155844756 VAR_002402 + P02675:p.39_102del chr4 155844579 155844582 VAR_002403 + P02675:p.Arg44Cys chr4 155844582 155844585 VAR_002404 + P02675:p.Gly45Arg chr4 155844669 155844672 VAR_002405 + P02675:p.Arg74Cys chr4 155844741 155844744 VAR_002406 + P02675:p.Ala98Thr chr4 155844747 155844750 VAR_013091 + P02675:p.Pro100Ser chr4 155846366 155846369 VAR_013092 + P02675:p.Asn170His chr4 155846444 155846447 VAR_016908 + P02675:p.Arg196Cys chr4 155847211 155847214 VAR_013093 + P02675:p.Pro265Leu chr4 155848404 155848407 VAR_002407 + P02675:p.Ala365Thr chr4 155848458 155848461 VAR_016909 + P02675:p.Leu383Arg chr4 155849218 155849221 VAR_016910 + P02675:p.Gly430Asp chr4 155849362 155849365 VAR_002408 + P02675:p.Arg478Lys chr4 155888935 155888938 VAR_033930 - P02679:p.Tyr140His chr4 155888479 155888482 VAR_014170 - P02679:p.Gly191Arg chr4 155885687 155885690 VAR_002409 - P02679:p.Arg301Cys chr4 155885687 155885690 VAR_002410 - P02679:p.Arg301His chr4 155885636 155885639 VAR_002411 - P02679:p.Gly318Val chr4 155885588 155885591 VAR_002413 - P02679:p.Asn334Ile chr4 155885588 155885591 VAR_002412 - P02679:p.Asn334Lys chr4 155885585 155885588 VAR_015853 - P02679:p.Gly335Asp chr4 155885582 155885585 VAR_002414 - P02679:p.Met336Thr chr4 155885552 155885558 VAR_002415 - P02679:p.345_346del chr4 155885525 155885528 VAR_002416 - P02679:p.Gln355Arg chr4 155885522 155885525 VAR_002418 - P02679:p.Asp356Val chr4 155885522 155885525 VAR_002417 - P02679:p.Asp356Tyr chr4 155885501 155885504 VAR_002419 - P02679:p.Asn363Lys chr4 155883800 155883803 VAR_002421 - P02679:p.Ser384Cys chr4 155883749 155883752 VAR_002422 - P02679:p.Arg401Gly chr4 155883722 155883725 VAR_014171 - P02679:p.Met410Val chr2 164293560 164293563 VAR_027613 - Q5HY92:p.Ser96Leu chr2 164292504 164292507 VAR_027614 - Q5HY92:p.Arg448Cys chr2 164292153 164292156 VAR_027615 - Q5HY92:p.Lys565Arg chr1 149090126 149090129 VAR_033931 - P20930:p.Gly3436Ala chr7 55524604 55524607 VAR_036962 - Q75LS8:p.Val125Gly chr11 63766495 63766501 VAR_006410 + P26885:p.Thr21_Ala22delinsSer chr11 63766507 63766510 VAR_006411 + P26885:p.Ala25Thr chr11 63767502 63767505 VAR_006412 + P26885:p.Cys97Tyr chr19 51950706 51950709 VAR_019272 + Q9H9S5:p.Arg54Trp chr19 51950886 51950889 VAR_018280 + Q9H9S5:p.Ala114Gly chr19 51950973 51950985 VAR_018281 + Q9H9S5:p.143_146del chr19 51950973 51950976 VAR_018282 + Q9H9S5:p.Arg143Ser chr19 51951195 51951198 VAR_018283 + Q9H9S5:p.Pro217Thr chr19 51951207 51951210 VAR_018284 + Q9H9S5:p.Ser221Arg chr19 51951372 51951375 VAR_018285 + Q9H9S5:p.Leu276Ile chr19 51951465 51951468 VAR_022850 + Q9H9S5:p.Tyr307Asn chr19 51951471 51951474 VAR_018286 + Q9H9S5:p.Tyr309Cys chr19 51951480 51951483 VAR_018287 + Q9H9S5:p.Arg312Cys chr19 51951489 51951492 VAR_018288 + Q9H9S5:p.Pro315Thr chr19 51951492 51951495 VAR_018289 + Q9H9S5:p.Pro316Arg chr19 51951492 51951495 VAR_022851 + Q9H9S5:p.Pro316Ser chr19 51951498 51951501 VAR_022852 + Q9H9S5:p.Cys318Tyr chr19 51951528 51951531 VAR_018290 + Q9H9S5:p.Tyr328Ser chr19 51951561 51951564 VAR_018292 + Q9H9S5:p.Arg339His chr19 51951561 51951564 VAR_018291 + Q9H9S5:p.Arg339Leu chr19 51951624 51951627 VAR_022853 + Q9H9S5:p.Asp360Asn chr19 51951747 51951750 VAR_018293 + Q9H9S5:p.Asp401Asn chr19 51951759 51951762 VAR_022854 + Q9H9S5:p.Val405Leu chr19 51951888 51951891 VAR_018294 + Q9H9S5:p.Pro448Leu chr19 51951909 51951912 VAR_022855 + Q9H9S5:p.Ala455Asp chr19 51951930 51951933 VAR_022856 + Q9H9S5:p.Pro462Ser chr19 51951939 51951942 VAR_018295 + Q9H9S5:p.Tyr465Ser chr9 105446053 105446056 VAR_033926 + O75072:p.Gly125Ser chr9 105446215 105446218 VAR_039287 + O75072:p.Arg179Thr chr9 105446287 105446290 VAR_033927 + O75072:p.Arg203Gln chr9 105449679 105449682 VAR_036334 + O75072:p.Asp225Glu chr9 105449679 105449682 VAR_036335 + O75072:p.Asp225Asn chr9 105449754 105449757 VAR_018278 + O75072:p.Cys250Gly chr9 105459802 105459805 VAR_039288 + O75072:p.Arg307Gln chr9 105461796 105461799 VAR_039289 + O75072:p.Gln358Pro chr9 105477049 105477052 VAR_018279 + O75072:p.Asn446Asp chr6 160135211 160135214 VAR_036854 + Q15007:p.Glu84Asp chr17 17071939 17071942 VAR_025356 - Q8NFG4:p.Ser79Trp chr17 17066604 17066607 VAR_025357 - Q8NFG4:p.Ala238Val chr17 17063159 17063162 VAR_025358 - Q8NFG4:p.Arg320Gln chr17 17061107 17061110 VAR_025359 - Q8NFG4:p.Arg392Gly chr17 17059323 17059326 VAR_025360 - Q8NFG4:p.Ala444Ser chr17 17059320 17059323 VAR_025361 - Q8NFG4:p.Ala445Thr chrX 153120343 153120346 VAR_022734 - P21333:p.Ala39Gly chrX 153120214 153120217 VAR_015699 - P21333:p.Glu82Val chrX 153120154 153120157 VAR_031305 - P21333:p.Met102Val chrX 153117294 153117297 VAR_031306 - P21333:p.Ala128Val chrX 153117231 153117234 VAR_031307 - P21333:p.Ser149Phe chrX 153117168 153117171 VAR_015713 - P21333:p.Gln170Pro chrX 153117162 153117165 VAR_015714 - P21333:p.Leu172Phe chrX 153117090 153117093 VAR_015715 - P21333:p.Arg196Gly chrX 153117090 153117093 VAR_015716 - P21333:p.Arg196Trp chrX 153117078 153117081 VAR_015717 - P21333:p.Ala200Ser chrX 153117069 153117072 VAR_031308 - P21333:p.Asp203Tyr chrX 153117057 153117060 VAR_015700 - P21333:p.Pro207Leu chrX 153116717 153116720 VAR_015701 - P21333:p.Glu254Lys chrX 153116660 153116663 VAR_015718 - P21333:p.Ala273Pro chrX 153115973 153115976 VAR_012831 - P21333:p.Val320Ala chrX 153115640 153115643 VAR_012832 - P21333:p.Phe370Leu chrX 153114457 153114460 VAR_031309 - P21333:p.Val528Met chrX 153114385 153114388 VAR_012833 - P21333:p.Val552Ala chrX 153114376 153114379 VAR_015719 - P21333:p.Thr555Lys chrX 153113794 153113797 VAR_012834 - P21333:p.Leu656Phe chrX 153110693 153110696 VAR_031310 - P21333:p.Ser1012Leu chrX 153109532 153109535 VAR_015702 - P21333:p.Asp1159Ala chrX 153109457 153109460 VAR_015720 - P21333:p.Asp1184Glu chrX 153109451 153109454 VAR_015721 - P21333:p.Ser1186Leu chrX 153109445 153109448 VAR_015703 - P21333:p.Ala1188Thr chrX 153109412 153109415 VAR_015704 - P21333:p.Ser1199Leu chrX 153108506 153108509 VAR_032083 - P21333:p.Ala1419Gly chrX 153106733 153106736 VAR_015722 - P21333:p.1620del chrX 153106682 153106691 VAR_031311 - P21333:p.1635_1637del chrX 153106658 153106661 VAR_015723 - P21333:p.Cys1645Phe chrX 153104072 153104075 VAR_031312 - P21333:p.Gly1728Cys chrX 153103851 153103854 VAR_012835 - P21333:p.Ala1764Thr chr3 58038000 58038003 VAR_033069 + O75369:p.Phe161Cys chr3 58038021 58038024 VAR_033070 + O75369:p.Gly168Ser chr3 58038030 58038033 VAR_033071 + O75369:p.Leu171Arg chr3 58038036 58038039 VAR_033072 + O75369:p.Ala173Val chr3 58039503 58039506 VAR_033073 + O75369:p.Ser188Pro chr3 58039545 58039548 VAR_033074 + O75369:p.Met202Val chr3 58042434 58042437 VAR_033075 + O75369:p.Glu227Lys chr3 58042455 58042458 VAR_033076 + O75369:p.Leu234Val chr3 58042458 58042461 VAR_033077 + O75369:p.Ser235Pro chr3 58058677 58058680 VAR_033078 + O75369:p.Gly361Ser chr3 58058683 58058686 VAR_033079 + O75369:p.Gly363Glu chr3 58065931 58065934 VAR_035917 + O75369:p.Arg566Gln chr3 58069269 58069272 VAR_035918 + O75369:p.Asn663Lys chr3 58069996 58069999 VAR_035919 + O75369:p.Thr703Lys chr3 58070393 58070396 VAR_033080 + O75369:p.Gly751Arg chr3 58082195 58082198 VAR_017182 + O75369:p.Val1018Met chr3 58084267 58084270 VAR_031392 + O75369:p.Glu1179Lys chr3 58091575 58091578 VAR_033081 + O75369:p.Leu1431Arg chr3 58095467 58095470 VAR_035920 + O75369:p.Ala1534Gly chr3 58096784 58096787 VAR_033082 + O75369:p.1571del chr3 58096829 58096832 VAR_033083 + O75369:p.Gly1586Arg chr3 58096847 58096850 VAR_033084 + O75369:p.Val1592Asp chr3 58096880 58096883 VAR_033085 + O75369:p.Pro1603Leu chr3 58099257 58099260 VAR_033086 + O75369:p.Gly1691Ser chr3 58106761 58106764 VAR_033087 + O75369:p.Gly1834Arg chr7 128082683 128082686 VAR_015705 + Q14315:p.Arg1567Gln chr7 128087760 128087763 VAR_015708 + Q14315:p.Lys2135Arg chr7 128092107 128092110 VAR_015710 + Q14315:p.Ser2626Asn chr7 128092140 128092143 VAR_015711 + Q14315:p.Lys2637Gln chr20 14254952 14254955 VAR_017152 - Q9NZU0:p.His400Gln chr1 167968495 167968498 VAR_015358 + Q01740:p.His97Gln chr1 167981621 167981624 VAR_022204 + Q01740:p.Arg223Gln chr1 167981633 167981636 VAR_022205 + Q01740:p.Ser227Thr chr1 167982853 167982856 VAR_015359 + Q01740:p.Ile303Thr chr1 167982853 167982856 VAR_015360 + Q01740:p.Ile303Val chr1 167982910 167982913 VAR_022206 + Q01740:p.Ile322Val chr1 167982925 167982928 VAR_022207 + Q01740:p.Phe327Leu chr1 167983063 167983066 VAR_022208 + Q01740:p.Lys373Arg chr1 167986161 167986164 VAR_022209 + Q01740:p.Arg474His chr1 167793526 167793529 VAR_042705 + P31513:p.Glu24Asp chr1 167793550 167793553 VAR_037306 + P31513:p.Glu32Lys chr1 167804604 167804607 VAR_008146 + P31513:p.Ala52Thr chr1 167804631 167804634 VAR_042706 + P31513:p.Asn61Lys chr1 167804631 167804634 VAR_037307 + P31513:p.Asn61Ser chr1 167804646 167804649 VAR_002423 + P31513:p.Met66Ile chr1 167808545 167808548 VAR_015364 + P31513:p.Asp132His chr1 167808608 167808611 VAR_002424 + P31513:p.Pro153Leu chr1 167808623 167808626 VAR_002425 + P31513:p.Glu158Lys chr1 167808984 167808987 VAR_018345 + P31513:p.Asp198Glu chr1 167809005 167809008 VAR_018346 + P31513:p.Arg205Cys chr1 167811737 167811740 VAR_002426 + P31513:p.Val257Met chr1 167814805 167814808 VAR_014845 + P31513:p.Val277Ala chr1 167814898 167814901 VAR_002427 + P31513:p.Glu308Gly chr1 167815054 167815057 VAR_015365 + P31513:p.Leu360Pro chr1 167815060 167815063 VAR_014846 + P31513:p.Glu362Gln chr1 167815135 167815138 VAR_008147 + P31513:p.Arg387Leu chr1 167817067 167817070 VAR_042707 + P31513:p.Lys416Asn chr1 167817940 167817943 VAR_037308 + P31513:p.Met434Ile chr1 167818114 167818117 VAR_008145 + P31513:p.Arg492Trp chr1 167818147 167818150 VAR_015366 + P31513:p.Gly503Arg chr1 168020730 168020733 VAR_015367 + P31512:p.Ile37Thr chr1 168035346 168035349 VAR_015368 + P31512:p.Val323Ala chr1 168035394 168035397 VAR_015369 + P31512:p.Glu339Gln chr1 168035493 168035496 VAR_022305 + P31512:p.Gly372Ser chr1 168042564 168042567 VAR_022306 + P31512:p.Phe536Leu chr1 168042588 168042591 VAR_022307 + P31512:p.Leu544Arg chr1 143886627 143886630 VAR_022308 - P49326:p.Pro400Ala chr1 143883525 143883528 VAR_015370 - P49326:p.Pro457Leu chr1 143883378 143883381 VAR_022309 - P49326:p.Arg506Ser chrX 146793793 146793796 VAR_031254 + Q8N0W7:p.Ala142Val chrX 146717025 146717028 VAR_029278 + Q06787:p.Ala145Ser chrX 146723597 146723600 VAR_005234 + Q06787:p.Ile304Asn chrX 146732098 146732101 VAR_005235 + Q06787:p.Arg546His chr9 129742338 129742341 VAR_029388 - Q96RU3:p.Ser490Asn chr6 159621386 159621389 VAR_031826 + Q4ZHG4:p.Thr386Ala chr6 159623341 159623344 VAR_031827 + Q4ZHG4:p.Glu411Gln chr6 159624961 159624964 VAR_031828 + Q4ZHG4:p.Gln951Glu chr6 159625492 159625495 VAR_031829 + Q4ZHG4:p.Asp1128Glu chr6 159625735 159625738 VAR_031830 + Q4ZHG4:p.Leu1209Pro chr6 159625792 159625795 VAR_031831 + Q4ZHG4:p.Gln1228Arg chr6 159631288 159631291 VAR_031832 + Q4ZHG4:p.Thr1446Lys chr6 159640510 159640513 VAR_031833 + Q4ZHG4:p.Thr1516Ala chr8 106500594 106500597 VAR_017942 + Q8WW38:p.Glu30Gly chr8 106882692 106882695 VAR_024178 + Q8WW38:p.Ala403Gly chr8 106883454 106883457 VAR_017943 + Q8WW38:p.Ser657Gly chr8 106883829 106883832 VAR_017944 + Q8WW38:p.Glu782Asp chr8 106884648 106884651 VAR_030760 + Q8WW38:p.Ala1055Val chr11 49186468 49186471 VAR_036398 - Q04609:p.Ala23Thr chr11 49142847 49142850 VAR_012736 - Q04609:p.His475Tyr chr11 49132362 49132365 VAR_028882 - Q04609:p.Val627Leu chr11 71584423 71584426 VAR_011963 + P15328:p.Trp160Cys chr19 50663780 50663783 VAR_022286 + P53539:p.Gly33Ser chr14 37131490 37131493 VAR_013457 - P55317:p.Ala83Thr chr14 37131364 37131367 VAR_015184 - P55317:p.125del chr20 22510877 22510880 VAR_008858 - Q9Y261:p.Ala328Val chr19 51067373 51067376 VAR_008859 + P55318:p.Gly91Arg chr6 1555922 1555925 VAR_007944 + Q12948:p.Ser82Thr chr6 1555937 1555940 VAR_007945 + Q12948:p.Ile87Met chr6 1556012 1556015 VAR_007815 + Q12948:p.Phe112Ser chr6 1556054 1556057 VAR_007816 + Q12948:p.Ile126Met chr6 1556069 1556072 VAR_007817 + Q12948:p.Ser131Leu chr6 1556159 1556162 VAR_018150 + Q12948:p.Met161Lys chr16 85158814 85158817 VAR_018418 + Q99958:p.Ser125Leu chr9 107717 107720 VAR_028177 - Q12950:p.Ile134Phe chr9 107663 107666 VAR_028179 - Q12950:p.Ile152Val chr1 47594592 47594595 VAR_026234 + Q13461:p.Gly196Ala chr1 47594904 47594907 VAR_026235 + Q13461:p.Ser300Gly chr8 145671187 145671190 VAR_011381 - O75593:p.Ser113Thr chr8 145671151 145671154 VAR_011382 - O75593:p.Thr125Ser chr12 8091854 8091857 VAR_021842 + Q9P0K8:p.Pro310Ser chr3 140148088 140148091 VAR_021196 - P58012:p.Ser58Leu chr3 140148064 140148067 VAR_021197 - P58012:p.Ala66Val chr3 140148055 140148058 VAR_021198 - P58012:p.Glu69Lys chr3 140148010 140148013 VAR_016883 - P58012:p.Ile84Ser chr3 140148007 140148010 VAR_016884 - P58012:p.85del chr3 140147950 140147953 VAR_021199 - P58012:p.His104Arg chr3 140147947 140147950 VAR_021200 - P58012:p.Asn105Ser chr3 140147944 140147947 VAR_016885 - P58012:p.Leu106Phe chr3 140147935 140147938 VAR_016886 - P58012:p.Asn109Lys chr3 140147725 140147728 VAR_021201 - P58012:p.Ala179Gly chr3 140147701 140147704 VAR_015181 - P58012:p.Gly187Asp chr3 140147683 140147686 VAR_021202 - P58012:p.Lys193Arg chr3 140147617 140147620 VAR_021203 - P58012:p.Tyr215Cys chr3 140147611 140147614 VAR_016887 - P58012:p.Ser217Phe chr3 140147560 140147563 VAR_037303 - P58012:p.Ala234Ala chr3 140147560 140147563 VAR_010782 - P58012:p.Ala234Ala chr3 140147560 140147563 VAR_025306 - P58012:p.Ala234Ala chr3 140147488 140147491 VAR_021204 - P58012:p.Tyr258Asn chr3 140147407 140147410 VAR_015182 - P58012:p.Pro285Ser chr12 2843806 2843809 VAR_025239 - Q08050:p.Ala402Glu chr12 2839006 2839009 VAR_025240 - Q08050:p.Phe450Leu chr12 2838427 2838430 VAR_020024 - Q08050:p.Ser643Pro chr12 2838349 2838352 VAR_025241 - Q08050:p.Pro669Arg chr12 2838337 2838340 VAR_025242 - Q08050:p.Pro673Leu chr17 23875728 23875731 VAR_020025 + O15353:p.Arg69Cys chr17 23881909 23881912 VAR_010376 + O15353:p.Ala283Val chr17 23885946 23885949 VAR_021843 + O15353:p.Arg411Trp chr17 23888428 23888431 VAR_020026 + O15353:p.Ala599Pro chr7 113896079 113896082 VAR_012278 + O15409:p.Arg553His chrX 48868323 48868326 VAR_011330 - Q9BZS1:p.251del chrX 48864552 48864555 VAR_023569 - Q9BZS1:p.Ile363Val chrX 48864528 48864531 VAR_011331 - Q9BZS1:p.Phe371Cys chrX 48864309 48864312 VAR_011332 - Q9BZS1:p.Ala384Thr chrX 48864270 48864273 VAR_011333 - Q9BZS1:p.Arg397Trp chr6 41666018 41666021 VAR_036219 + Q8IVH2:p.Ala464Thr chr6 1258116 1258119 VAR_031606 + Q9C009:p.Thr60Pro chr6 1258119 1258122 VAR_031607 + Q9C009:p.Gln61Pro chrX 55534020 55534023 VAR_028731 + Q6PJQ5:p.Val286Ala chr20 29896130 29896133 VAR_021844 - O43638:p.Pro292Ala chr19 56941483 56941486 VAR_003477 - P21462:p.Asn192Lys chr1 117241499 117241502 VAR_024496 + Q9P2B2:p.Val837Ile chr9 68897661 68897664 VAR_016065 + Q16595:p.Leu106Ser chr9 68897709 68897712 VAR_002428 + Q16595:p.Asp122Tyr chr9 68909410 68909413 VAR_002429 + Q16595:p.Gly130Val chr9 68909482 68909485 VAR_002430 + Q16595:p.Ile154Phe chr9 68909485 68909488 VAR_002431 + Q16595:p.Trp155Arg chr9 68917091 68917094 VAR_008139 + Q16595:p.Arg165Cys chr9 68917142 68917145 VAR_008140 + Q16595:p.Leu182Phe chr9 68917190 68917193 VAR_016066 + Q16595:p.Leu198Arg chr13 38161788 38161791 VAR_033933 + Q5SZK8:p.Val770Met chr13 38162082 38162085 VAR_033934 + Q5SZK8:p.Leu868Val chr13 38162595 38162598 VAR_033935 + Q5SZK8:p.Met1039Lys chr13 38162613 38162616 VAR_037569 + Q5SZK8:p.Ile1045Ser chr13 38162688 38162691 VAR_033936 + Q5SZK8:p.Phe1070Ser chr13 38164482 38164485 VAR_037570 + Q5SZK8:p.Arg1668His chr13 38241821 38241824 VAR_033937 + Q5SZK8:p.Arg1840Trp chr13 38256839 38256842 VAR_023201 + Q5SZK8:p.Glu1972Lys chr13 38320623 38320626 VAR_023202 + Q5SZK8:p.Arg2066Cys chr13 38322251 38322254 VAR_023203 + Q5SZK8:p.Thr2153Ser chr13 38328312 38328315 VAR_023204 + Q5SZK8:p.Thr2326Ile chr13 38350991 38350994 VAR_037571 + Q5SZK8:p.Ala2962Val chr4 191248527 191248530 VAR_033938 + Q14331:p.Lys66Glu chr19 54161385 54161388 VAR_026633 + P02792:p.Ala96Thr chr6 116487867 116487870 VAR_041702 - P42685:p.Ile100Val chr6 116431832 116431835 VAR_006283 - P42685:p.Gly122Arg chr6 116431799 116431802 VAR_041703 - P42685:p.Ser133Leu chr6 168281061 168281064 VAR_027099 - Q8N878:p.Arg274Cys chrX 130960264 130960267 VAR_028951 - Q6ZUT3:p.Gly24Glu chrX 130960264 130960267 VAR_028952 - Q6ZUT3:p.Gly24Arg chrX 130945553 130945556 VAR_028953 - Q6ZUT3:p.Leu142Arg chrX 130944130 130944133 VAR_028954 - Q6ZUT3:p.Asn221Asp chrX 130944115 130944118 VAR_028955 - Q6ZUT3:p.Ala226Thr chrX 130944100 130944103 VAR_028956 - Q6ZUT3:p.Leu231Val chrX 130942032 130942035 VAR_028957 - Q6ZUT3:p.Ala266Pro chrX 130942017 130942020 VAR_028958 - Q6ZUT3:p.Cys271Tyr chrX 130941987 130941990 VAR_028959 - Q6ZUT3:p.Ser281Leu chrX 130941927 130941930 VAR_028960 - Q6ZUT3:p.Tyr301Cys chrX 130939598 130939601 VAR_028961 - Q6ZUT3:p.Ser340Leu chrX 130938175 130938178 VAR_028962 - Q6ZUT3:p.Arg468His chr10 49065325 49065328 VAR_035446 - Q68DX3:p.Arg727Trp chr6 41847150 41847153 VAR_033855 - O43559:p.Pro221Leu chr8 95513756 95513759 VAR_019301 - O95073:p.Arg226Lys chr14 44045154 44045157 VAR_035678 - Q5H9T9:p.Thr262Arg chr7 126827927 126827930 VAR_022021 + Q9NQT6:p.Ala24Ser chr7 126833546 126833549 VAR_033939 + Q9NQT6:p.His428Leu chr19 4263041 4263044 VAR_038385 + Q9BTV5:p.Leu232Val chr11 30210082 30210085 VAR_012047 + P01225:p.Ser20Ile chr11 30211737 30211740 VAR_033015 + P01225:p.Cys69Gly chr15 37850037 37850040 VAR_038124 - Q8NA03:p.Asn64Asp chr15 37793062 37793065 VAR_038125 - Q8NA03:p.Arg354His chr15 37793002 37793005 VAR_038126 - Q8NA03:p.Glu374Gly chr15 37697720 37697723 VAR_038127 - Q8NA03:p.Cys402Arg chr15 37697693 37697696 VAR_038128 - Q8NA03:p.Leu411Phe chr15 37697342 37697345 VAR_038129 - Q8NA03:p.Gly528Ala chr5 132680178 132680181 VAR_027727 - Q6MZW2:p.Arg158His chr21 46396284 46396287 VAR_015887 - O95954:p.Arg135Cys chr21 46394469 46394472 VAR_015888 - O95954:p.Arg299Pro chr21 46382978 46382981 VAR_015889 - O95954:p.Ala438Glu chr3 127333014 127333017 VAR_036101 - O75891:p.Ala511Val chr1 23940052 23940055 VAR_016233 - P04066:p.Pro10Arg chr1 23939887 23939890 VAR_002442 - P04066:p.Gly65Asp chr1 23939878 23939881 VAR_002443 - P04066:p.Ser68Leu chr1 23926317 23926320 VAR_016234 - P04066:p.Cys269Ser chr1 23926266 23926269 VAR_002444 - P04066:p.Gln286Arg chr1 23917899 23917902 VAR_016235 - P04066:p.Leu410Arg chr16 69058309 69058312 VAR_021327 + Q8N0W3:p.Val146Met chr16 69064540 69064543 VAR_021328 + Q8N0W3:p.Ala521Thr chr16 69064690 69064693 VAR_021329 + Q8N0W3:p.Arg571His chr16 69066043 69066046 VAR_021330 + Q8N0W3:p.Pro701Leu chr16 69067101 69067104 VAR_021331 + Q8N0W3:p.Ala858Thr chr16 69067110 69067113 VAR_021332 + Q8N0W3:p.Val861Met chr16 69069734 69069737 VAR_021333 + Q8N0W3:p.Arg901Trp chr16 69069848 69069851 VAR_021334 + Q8N0W3:p.Arg939Gln chr16 69069848 69069851 VAR_021335 + Q8N0W3:p.Arg939Trp chr1 238003000 238003003 VAR_013497 - P07954:p.Asn107Thr chr1 238002970 238002973 VAR_013498 - P07954:p.Ala117Pro chr1 238001322 238001325 VAR_013499 - P07954:p.His180Arg chr1 238001307 238001310 VAR_013500 - P07954:p.Gln185Arg chr1 237997991 237997994 VAR_002445 - P07954:p.Lys230Arg chr1 237997982 237997985 VAR_013501 - P07954:p.Arg233His chr1 237995401 237995404 VAR_013502 - P07954:p.Gly282Val chr1 237993566 237993569 VAR_002446 - P07954:p.Ala308Thr chr1 237993554 237993557 VAR_002447 - P07954:p.Phe312Cys chr1 237993506 237993509 VAR_013503 - P07954:p.Met328Arg chr1 237989892 237989895 VAR_002448 - P07954:p.Asp425Val chr16 31108045 31108048 VAR_035481 + P35637:p.Lys312Gln chr10 75202247 75202250 VAR_034763 + Q495W5:p.Ser51Ala chr19 53946314 53946317 VAR_022268 - P19526:p.Ala12Val chr19 53945906 53945909 VAR_020536 - P19526:p.Asp148Tyr chr19 53945888 53945891 VAR_003417 - P19526:p.Tyr154Cys chr19 53945888 53945891 VAR_020537 - P19526:p.Tyr154His chr19 53945858 53945861 VAR_009708 - P19526:p.Leu164His chr19 53945837 53945840 VAR_003418 - P19526:p.Trp171Cys chr19 53945627 53945630 VAR_020538 - P19526:p.Tyr241His chr19 53945624 53945627 VAR_009709 - P19526:p.Leu242Arg chr19 53945573 53945576 VAR_003419 - P19526:p.Val259Glu chr19 53945405 53945408 VAR_003420 - P19526:p.Ala315Val chr19 53945306 53945309 VAR_020539 - P19526:p.Glu348Lys chr19 53945303 53945306 VAR_003421 - P19526:p.Trp349Cys chr19 53898097 53898100 VAR_003422 + Q10981:p.Ile25Val chr19 53898436 53898439 VAR_003423 + Q10981:p.Arg138Cys chr19 53898442 53898445 VAR_003424 + Q10981:p.Ile140Phe chr19 53898538 53898541 VAR_003425 + Q10981:p.Asp172Asn chr19 53898796 53898799 VAR_022187 + Q10981:p.Gly258Ser chr19 5795835 5795838 VAR_022200 - P21217:p.Gly5Ser chr19 5795790 5795793 VAR_003426 - P21217:p.Leu20Arg chr19 5795544 5795547 VAR_007960 - P21217:p.Gln102Lys chr19 5795478 5795481 VAR_007961 - P21217:p.Ser124Ala chr19 5795370 5795373 VAR_022201 - P21217:p.Arg160Cys chr19 5795364 5795367 VAR_007962 - P21217:p.Asp162Asn chr19 5795340 5795343 VAR_003428 - P21217:p.Gly170Ser chr19 5795181 5795184 VAR_007963 - P21217:p.Gly223Arg chr19 5795040 5795043 VAR_007964 - P21217:p.Val270Met chr19 5794875 5794878 VAR_022202 - P21217:p.Thr325Met chr19 5794869 5794872 VAR_022203 - P21217:p.Arg327Gln chr19 5794842 5794845 VAR_003429 - P21217:p.Asp336Ala chr19 5794782 5794785 VAR_003430 - P21217:p.Ile356Lys chr19 5818175 5818178 VAR_022122 - Q11128:p.Pro187Leu chr19 5783206 5783209 VAR_024463 - P51993:p.Pro124Ser chr19 5782888 5782891 VAR_024464 - P51993:p.Gln230Lys chr14 65205914 65205917 VAR_033537 + Q9BYC5:p.Thr267Lys chr6 96758823 96758826 VAR_030575 + Q9Y231:p.Trp358Gly chr7 102147552 102147555 VAR_031426 - Q8NEE6:p.Gly313Ala chr7 102111894 102111897 VAR_031427 - Q8NEE6:p.Ile535Val chr7 102089198 102089201 VAR_031428 - Q8NEE6:p.Tyr565Cys chr7 102047871 102047874 VAR_031429 - Q8NEE6:p.Asp692Gly chr16 684638 684641 VAR_028163 - Q8N461:p.Leu429Pro chr15 61676986 61676989 VAR_033940 + Q6P050:p.Val109Leu chr3 182151853 182151856 VAR_036050 + P51114:p.Ala233Thr chr3 182168626 182168629 VAR_016077 + P51114:p.Asp429Asn chr3 182176755 182176758 VAR_014890 + P51114:p.Ala614Val chr11 125648455 125648458 VAR_033856 + Q96CU9:p.Val145Ile chr11 125651553 125651556 VAR_030192 + Q96CU9:p.Ala343Pro chr19 40340204 40340207 VAR_012349 + Q96DB9:p.Ser35Ala chr3 45984983 45984986 VAR_027007 - Q9BQS8:p.Arg282His chr3 45984866 45984869 VAR_027008 - Q9BQS8:p.Gly321Ala chr3 45984686 45984689 VAR_027009 - Q9BQS8:p.Thr381Met chr3 45983792 45983795 VAR_027010 - Q9BQS8:p.Ala679Val chr3 45982826 45982829 VAR_027011 - Q9BQS8:p.Asn1001Asp chr6 112128132 112128135 VAR_041704 - P06241:p.Val243Leu chr6 112122313 112122316 VAR_041705 - P06241:p.Gly410Arg chr6 112102464 112102467 VAR_014661 - P06241:p.Ile445Phe chr6 112089730 112089733 VAR_041706 - P06241:p.Asp506Glu chr2 209016347 209016350 VAR_025309 + Q9Y2I7:p.Lys1103Arg chr11 86341130 86341133 VAR_038947 - Q9ULV1:p.Met105Val chr11 86340974 86340977 VAR_038948 - Q9ULV1:p.Met157Val chr11 86340137 86340140 VAR_036413 - Q9ULV1:p.Lys436Thr chr11 86339963 86339969 VAR_017777 - Q9ULV1:p.493_494del chr2 202724945 202724948 VAR_033024 + O75084:p.Gly24Ser chr2 202725461 202725464 VAR_033941 + O75084:p.Gly196Glu chr2 202726334 202726337 VAR_033942 + O75084:p.Ala487Val chr12 121711777 121711780 VAR_038713 - Q8TDS4:p.Arg311Cys chr12 121711759 121711762 VAR_038714 - Q8TDS4:p.Met317Ile chr12 121725114 121725117 VAR_038720 - P49019:p.Gly350Ser chr14 30137497 30137500 VAR_027273 + Q7L622:p.Arg232His chr4 76927939 76927942 VAR_036128 - Q9UN86:p.Pro434Leu chr12 6515954 6515957 VAR_018889 + P04406:p.Ala22Gly chr22 29277846 29277849 VAR_013684 - Q99999:p.Val29Met chr7 99402603 99402606 VAR_021989 - Q96RP7:p.Arg353Gln chr7 99402261 99402264 VAR_033736 - Q96RP7:p.Ala467Val chr17 38306476 38306479 VAR_009202 + P35575:p.Gln20Arg chr17 38306530 38306533 VAR_005237 + P35575:p.Asp38Val chr17 38306578 38306581 VAR_009203 + P35575:p.Gln54Pro chr17 38306647 38306649 VAR_005238 + P35575:p.Trp77Arg chr17 38309473 38309474 VAR_005238 + P35575:p.Trp77Arg chr17 38309483 38309486 VAR_009204 + P35575:p.Gly81Arg chr17 38309489 38309492 VAR_005239 + P35575:p.Arg83Cys chr17 38309489 38309492 VAR_005240 + P35575:p.Arg83His chr17 38309489 38309492 VAR_005241 + P35575:p.Arg83Ile chr17 38309564 38309567 VAR_009205 + P35575:p.Thr108Ile chr17 38309570 38309573 VAR_005242 + P35575:p.Glu110Lys chr17 38313070 38313073 VAR_035922 + P35575:p.Pro116Leu chr17 38313094 38313097 VAR_005243 + P35575:p.Ala124Thr chr17 38314864 38314867 VAR_009206 + P35575:p.Trp156Leu chr17 38314894 38314897 VAR_005244 + P35575:p.Val166Gly chr17 38314948 38314951 VAR_005245 + P35575:p.Gly184Glu chr17 38314960 38314961 VAR_009207 + P35575:p.Gly188Asp chr17 38316457 38316459 VAR_009207 + P35575:p.Gly188Asp chr17 38314960 38314961 VAR_005246 + P35575:p.Gly188Arg chr17 38316457 38316459 VAR_005246 + P35575:p.Gly188Arg chr17 38316525 38316528 VAR_005247 + P35575:p.Leu211Pro chr17 38316558 38316561 VAR_005248 + P35575:p.Gly222Arg chr17 38316690 38316693 VAR_005249 + P35575:p.Gly266Val chr17 38316702 38316705 VAR_005250 + P35575:p.Gly270Val chr17 38316777 38316780 VAR_005251 + P35575:p.Arg295Cys chr17 38316873 38316876 VAR_005252 + P35575:p.327del chr17 38316906 38316909 VAR_005253 + P35575:p.Val338Phe chr17 38316915 38316918 VAR_005254 + P35575:p.Ile341Asn chrX 153338038 153338041 VAR_002450 - P11413:p.Val12Leu chrX 153337978 153337981 VAR_002451 - P11413:p.His32Arg chrX 153337969 153337972 VAR_002452 - P11413:p.35del chrX 153328085 153328088 VAR_002453 - P11413:p.Ala44Gly chrX 153328073 153328076 VAR_002454 - P11413:p.Ile48Thr chrX 153327948 153327951 VAR_002455 - P11413:p.Asp58Asn chrX 153327918 153327921 VAR_002456 - P11413:p.Val68Met chrX 153327912 153327915 VAR_002457 - P11413:p.Tyr70His chrX 153327897 153327900 VAR_002458 - P11413:p.Leu75Pro chrX 153327879 153327882 VAR_002460 - P11413:p.Arg81Cys chrX 153327879 153327882 VAR_002459 - P11413:p.Arg81His chrX 153327253 153327256 VAR_002461 - P11413:p.Ser106Cys chrX 153327193 153327196 VAR_002462 - P11413:p.Asn126Asp chrX 153327187 153327190 VAR_002463 - P11413:p.Leu128Pro chrX 153327178 153327181 VAR_002464 - P11413:p.Gly131Val chrX 153327103 153327106 VAR_002465 - P11413:p.Glu156Lys chrX 153326411 153326414 VAR_002467 - P11413:p.Gly163Asp chrX 153326411 153326414 VAR_002466 - P11413:p.Gly163Ser chrX 153326405 153326408 VAR_002468 - P11413:p.Asn165Asp chrX 153326402 153326405 VAR_002469 - P11413:p.Arg166His chrX 153326372 153326375 VAR_002470 - P11413:p.Asp176Gly chrX 153326357 153326360 VAR_002471 - P11413:p.Asp181Val chrX 153326354 153326357 VAR_002472 - P11413:p.Arg182Trp chrX 153326336 153326339 VAR_002473 - P11413:p.Ser188Phe chrX 153326306 153326309 VAR_002474 - P11413:p.Arg198Cys chrX 153326306 153326309 VAR_002475 - P11413:p.Arg198Pro chrX 153326264 153326267 VAR_002476 - P11413:p.Met212Val chrX 153326261 153326264 VAR_002477 - P11413:p.Val213Leu chrX 153326075 153326078 VAR_002478 - P11413:p.Phe216Leu chrX 153326042 153326045 VAR_002480 - P11413:p.Arg227Leu chrX 153326042 153326045 VAR_002479 - P11413:p.Arg227Gln chrX 153325994 153326000 VAR_002481 - P11413:p.242_243del chrX 153325536 153325539 VAR_002483 - P11413:p.Glu274Lys chrX 153325524 153325527 VAR_002484 - P11413:p.Ser278Phe chrX 153325521 153325524 VAR_002485 - P11413:p.Thr279Ser chrX 153325512 153325515 VAR_002486 - P11413:p.Asp282His chrX 153325503 153325506 VAR_002487 - P11413:p.Arg285His chrX 153325038 153325041 VAR_002488 - P11413:p.Val291Met chrX 153324960 153324963 VAR_002489 - P11413:p.Glu317Lys chrX 153324945 153324948 VAR_020535 - P11413:p.Tyr322His chrX 153324942 153324945 VAR_002490 - P11413:p.Leu323Pro chrX 153324906 153324909 VAR_002491 - P11413:p.Ala335Thr chrX 153324885 153324888 VAR_002492 - P11413:p.Leu342Phe chrX 153324713 153324716 VAR_002493 - P11413:p.Pro353Ser chrX 153324683 153324686 VAR_002494 - P11413:p.Asn363Lys chrX 153324617 153324620 VAR_002495 - P11413:p.Cys385Arg chrX 153324614 153324617 VAR_002496 - P11413:p.Lys386Glu chrX 153324611 153324614 VAR_002498 - P11413:p.Arg387Cys chrX 153324611 153324614 VAR_002497 - P11413:p.Arg387His chrX 153324593 153324596 VAR_002499 - P11413:p.Arg393His chrX 153324590 153324593 VAR_002500 - P11413:p.Val394Leu chrX 153324584 153324587 VAR_002501 - P11413:p.Pro396Leu chrX 153324578 153324581 VAR_002502 - P11413:p.Glu398Lys chrX 153324542 153324545 VAR_002503 - P11413:p.Gly410Cys chrX 153324542 153324545 VAR_002504 - P11413:p.Gly410Asp chrX 153324524 153324527 VAR_002505 - P11413:p.Glu416Lys chrX 153324351 153324354 VAR_002506 - P11413:p.Arg439Pro chrX 153324348 153324351 VAR_002507 - P11413:p.Leu440Phe chrX 153324327 153324330 VAR_002508 - P11413:p.Gly447Arg chrX 153324321 153324324 VAR_002509 - P11413:p.Gln449His chrX 153324306 153324309 VAR_002510 - P11413:p.Arg454Cys chrX 153324306 153324309 VAR_002511 - P11413:p.Arg454His chrX 153324186 153324189 VAR_002512 - P11413:p.Arg459Leu chrX 153324186 153324189 VAR_002513 - P11413:p.Arg459Pro chrX 153324174 153324177 VAR_002514 - P11413:p.Arg463His chrX 153324002 153324005 VAR_002515 - P11413:p.Gly488Val chr1 9258174 9258177 VAR_026487 + O95479:p.Arg453Gln chr19 39548023 39548026 VAR_002516 + P06744:p.Thr5Ile chr19 39548068 39548071 VAR_002517 + P06744:p.His20Pro chr19 39549536 39549539 VAR_002518 + P06744:p.Arg75Gly chr19 39549560 39549563 VAR_002519 + P06744:p.Arg83Trp chr19 39551345 39551348 VAR_002521 + P06744:p.Val101Met chr19 39560319 39560322 VAR_002520 + P06744:p.Gly159Ser chr19 39560575 39560578 VAR_002522 + P06744:p.Thr195Ile chr19 39560614 39560617 VAR_018816 + P06744:p.Ile208Thr chr19 39561714 39561717 VAR_002523 + P06744:p.Thr224Met chr19 39576004 39576007 VAR_002524 + P06744:p.Arg273His chr19 39576019 39576022 VAR_002525 + P06744:p.Ser278Leu chr19 39576504 39576507 VAR_002526 + P06744:p.Ala300Pro chr19 39576670 39576673 VAR_033943 + P06744:p.Arg308His chr19 39576763 39576766 VAR_002527 + P06744:p.Leu339Pro chr19 39576775 39576778 VAR_002528 + P06744:p.Gln343Arg chr19 39576787 39576790 VAR_002529 + P06744:p.Arg347Cys chr19 39576787 39576790 VAR_002530 + P06744:p.Arg347His chr19 39579105 39579108 VAR_002531 + P06744:p.Thr375Arg chr19 39579147 39579150 VAR_002532 + P06744:p.His389Arg chr19 39582315 39582318 VAR_002533 + P06744:p.Arg472His chr19 39582360 39582363 VAR_002534 + P06744:p.Leu487Phe chr19 39582471 39582474 VAR_002535 + P06744:p.Glu495Lys chr19 39582652 39582655 VAR_002536 + P06744:p.Leu517Val chr19 39582676 39582679 VAR_002537 + P06744:p.Ile525Thr chr19 39582718 39582721 VAR_002538 + P06744:p.Asp539Asn chr12 99520431 99520434 VAR_033944 + Q86XJ1:p.Leu461Ser chr12 99520548 99520551 VAR_033945 + Q86XJ1:p.Pro500Thr chr9 89450313 89450316 VAR_018888 + O95257:p.Gly112Ser chr4 144694408 144694411 VAR_036132 + Q13480:p.Tyr83Cys chr4 144717093 144717096 VAR_025261 + Q13480:p.Pro311Leu chr4 144717321 144717324 VAR_036133 + Q13480:p.Thr387Asn chr11 77615333 77615336 VAR_020407 - Q9UQC2:p.Pro344Leu chr15 48389194 48389197 VAR_035613 - Q06547:p.Pro31Ala chr21 26058459 26058462 VAR_020315 + Q06546:p.Ala291Val chr21 26058865 26058868 VAR_020316 + Q06546:p.Glu345Lys chr6 29708081 29708084 VAR_010146 - Q9UBS5:p.Ala20Val chr6 29689097 29689100 VAR_010147 - Q9UBS5:p.Gly489Ser chr9 98204560 98204563 VAR_010148 - O75899:p.Tyr628Phe chr9 98135674 98135677 VAR_010149 - O75899:p.Thr869Ala chr16 8747453 8747456 VAR_018979 + P80404:p.Gln56Arg chr16 8769604 8769607 VAR_008883 + P80404:p.Arg220Lys chrX 49158918 49158921 VAR_027767 - O75459:p.Leu75Pro chr14 87501677 87501680 VAR_013964 - P54803:p.Tyr319Cys chr14 87470930 87470933 VAR_013969 - P54803:p.Thr652Arg chr1 23870728 23870731 VAR_037733 - Q14376:p.Ala25Val chr1 23870701 23870704 VAR_002539 - Q14376:p.Asn34Ser chr1 23870683 23870686 VAR_037734 - Q14376:p.Arg40Cys chr1 23870440 23870443 VAR_037735 - Q14376:p.Asp69Glu chr1 23869993 23869996 VAR_002540 - Q14376:p.Gly90Glu chr1 23869981 23869984 VAR_010058 - Q14376:p.Val94Met chr1 23869954 23869957 VAR_002541 - Q14376:p.Asp103Gly chr1 23869523 23869526 VAR_037736 - Q14376:p.Glu165Lys chr1 23869511 23869514 VAR_037737 - Q14376:p.Arg169Trp chr1 23868931 23868934 VAR_002542 - Q14376:p.Ala180Val chr1 23868922 23868925 VAR_002543 - Q14376:p.Leu183Pro chr1 23868570 23868573 VAR_037738 - Q14376:p.Arg239Trp chr1 23868516 23868519 VAR_002544 - Q14376:p.Lys257Arg chr1 23868028 23868031 VAR_037739 - Q14376:p.Gly302Asp chr1 23867995 23867998 VAR_002545 - Q14376:p.Leu313Met chr1 23867977 23867980 VAR_002546 - Q14376:p.Gly319Glu chr1 23867786 23867789 VAR_037740 - Q14376:p.Arg335His chr17 71272728 71272731 VAR_008514 - P51570:p.Pro28Thr chr17 71272716 71272719 VAR_002547 - P51570:p.Val32Met chr17 71272704 71272707 VAR_023486 - P51570:p.Gly36Arg chr17 71272680 71272683 VAR_023487 - P51570:p.His44Tyr chr17 71271723 71271726 VAR_023488 - P51570:p.Arg68Cys chr17 71270748 71270751 VAR_023489 - P51570:p.Ile184Met chr17 71270706 71270709 VAR_015746 - P51570:p.Ala198Val chr17 71270455 71270458 VAR_023490 - P51570:p.Arg239Gln chr17 71266246 71266249 VAR_023491 - P51570:p.Gly274Asp chr17 71266204 71266207 VAR_023492 - P51570:p.Thr288Met chr17 71265978 71265981 VAR_023493 - P51570:p.Val338Ala chr17 71265954 71265957 VAR_023494 - P51570:p.Gly346Ser chr17 71265945 71265948 VAR_023495 - P51570:p.Gly349Ser chr17 71265758 71265761 VAR_023496 - P51570:p.Ala384Pro chr2 38828620 38828623 VAR_024451 + Q96C23:p.Asn190Tyr chr16 87450741 87450744 VAR_024873 - P34059:p.Leu15Met chr16 87450732 87450738 VAR_024874 - P34059:p.17_18del chr16 87450717 87450720 VAR_024875 - P34059:p.Gly23Arg chr16 87450678 87450681 VAR_024876 - P34059:p.Leu36Pro chr16 87436735 87436738 VAR_024877 - P34059:p.Met41Leu chr16 87436732 87436735 VAR_024878 - P34059:p.Gly42Glu chr16 87436717 87436720 VAR_007172 - P34059:p.Gly47Arg chr16 87436693 87436705 VAR_024879 - P34059:p.52_55del chr16 87436699 87436702 VAR_024880 - P34059:p.Ser53Phe chr16 87436678 87436681 VAR_007173 - P34059:p.Asp60Asn chr16 87436675 87436678 VAR_024881 - P34059:p.Arg61Trp chr16 87436657 87436660 VAR_007174 - P34059:p.Leu67Met chr16 87436651 87436654 VAR_024882 - P34059:p.Phe69Val chr16 87436636 87436648 VAR_024883 - P34059:p.Asn71_Ser74delinsThr chr16 87436627 87436630 VAR_007175 - P34059:p.Pro77Arg chr16 87436621 87436624 VAR_024884 - P34059:p.Cys79Tyr chr16 87436618 87436621 VAR_007177 - P34059:p.Ser80Leu chr16 87435854 87435857 VAR_007178 - P34059:p.Arg90Trp chr16 87435842 87435845 VAR_007179 - P34059:p.Arg94Cys chr16 87435842 87435845 VAR_007180 - P34059:p.Arg94Gly chr16 87435842 87435845 VAR_024885 - P34059:p.Arg94Leu chr16 87435836 87435839 VAR_007181 - P34059:p.Gly96Cys chr16 87435836 87435839 VAR_007182 - P34059:p.Gly96Val chr16 87435833 87435836 VAR_007183 - P34059:p.Phe97Val chr16 87434989 87434992 VAR_007184 - P34059:p.Gln111Arg chr16 87434983 87434986 VAR_007185 - P34059:p.Ile113Phe chr16 87434974 87434977 VAR_024887 - P34059:p.Gly116Ser chr16 87434947 87434950 VAR_007186 - P34059:p.Pro125Leu chr16 87434917 87434920 VAR_007187 - P34059:p.Ser135Arg chr16 87434908 87434911 VAR_007188 - P34059:p.Val138Ala chr16 87434905 87434908 VAR_007189 - P34059:p.Gly139Ser chr16 87431646 87431649 VAR_024889 - P34059:p.His150Tyr chr16 87431643 87431646 VAR_007191 - P34059:p.Pro151Leu chr16 87431643 87431646 VAR_007192 - P34059:p.Pro151Ser chr16 87431631 87431634 VAR_024890 - P34059:p.Gly155Glu chr16 87431631 87431634 VAR_007193 - P34059:p.Gly155Arg chr16 87431628 87431631 VAR_007194 - P34059:p.Phe156Cys chr16 87431628 87431631 VAR_007195 - P34059:p.Phe156Ser chr16 87431610 87431613 VAR_024891 - P34059:p.Ser162Phe chr16 87431604 87431607 VAR_024892 - P34059:p.Asn164Thr chr16 87431598 87431601 VAR_007196 - P34059:p.His166Gln chr16 87431595 87431598 VAR_024893 - P34059:p.Phe167Val chr16 87431592 87431595 VAR_007197 - P34059:p.Gly168Arg chr16 87431583 87431586 VAR_024894 - P34059:p.Asp171Ala chr16 87431562 87431565 VAR_007198 - P34059:p.Ile178Val chr16 87431559 87431562 VAR_007199 - P34059:p.Pro179His chr16 87431559 87431562 VAR_007200 - P34059:p.Pro179Leu chr16 87431559 87431562 VAR_024895 - P34059:p.Pro179Ser chr16 87431541 87431544 VAR_007201 - P34059:p.Glu185Gly chr16 87430142 87430145 VAR_007202 - P34059:p.Thr200Met chr16 87430133 87430136 VAR_024896 - P34059:p.Ala203Val chr16 87430130 87430133 VAR_007203 - P34059:p.Asn204Lys chr16 87429701 87429704 VAR_007204 - P34059:p.Trp230Gly chr16 87429698 87429701 VAR_007205 - P34059:p.Ala231Gly chr16 87429692 87429695 VAR_024897 - P34059:p.Asp233Asn chr16 87429674 87429677 VAR_024898 - P34059:p.Val239Phe chr16 87429650 87429653 VAR_007206 - P34059:p.Gly247Asp chr16 87429248 87429251 VAR_007207 - P34059:p.Ala257Thr chr16 87429242 87429245 VAR_007208 - P34059:p.Arg259Gln chr16 87429239 87429242 VAR_024900 - P34059:p.Glu260Asp chr16 87429158 87429185 VAR_007209 - P34059:p.279_287del chr16 87429167 87429170 VAR_007210 - P34059:p.Phe284Val chr16 87429164 87429167 VAR_024901 - P34059:p.285del chr16 87429158 87429161 VAR_007211 - P34059:p.Ser287Leu chr16 87429149 87429152 VAR_007212 - P34059:p.Gly290Ser chr16 87429146 87429149 VAR_007213 - P34059:p.Ala291Asp chr16 87429146 87429149 VAR_007214 - P34059:p.Ala291Thr chr16 87429134 87429137 VAR_007215 - P34059:p.Ser295Phe chr16 87426005 87426008 VAR_007216 - P34059:p.Gly301Cys chr16 87425987 87425990 VAR_024902 - P34059:p.Leu307Pro chr16 87425981 87425984 VAR_007217 - P34059:p.Gly309Arg chr16 87425978 87425981 VAR_024903 - P34059:p.Lys310Asn chr16 87425972 87425975 VAR_007218 - P34059:p.Thr312Ser chr16 87425954 87425957 VAR_007219 - P34059:p.Met318Arg chr16 87425933 87425936 VAR_024904 - P34059:p.Trp325Cys chr16 87425933 87425936 VAR_007220 - P34059:p.325del chr16 87420729 87420732 VAR_024905 - P34059:p.Gly340Asp chr16 87420726 87420729 VAR_024906 - P34059:p.Ser341Arg chr16 87420720 87420723 VAR_007221 - P34059:p.Met343Arg chr16 87420717 87420720 VAR_007222 - P34059:p.Asp344Glu chr16 87420717 87420720 VAR_007223 - P34059:p.Asp344Asn chr16 87420714 87420717 VAR_024907 - P34059:p.Leu345Pro chr16 87420711 87420714 VAR_007224 - P34059:p.Phe346Leu chr16 87420696 87420699 VAR_007225 - P34059:p.Ala351Val chr16 87420693 87420696 VAR_024908 - P34059:p.Leu352Pro chr16 87420678 87420681 VAR_024909 - P34059:p.Pro357Leu chr16 87420666 87420669 VAR_007226 - P34059:p.Arg361Gly chr16 87420642 87420645 VAR_024910 - P34059:p.Leu369Pro chr16 87420621 87420624 VAR_007227 - P34059:p.Arg376Gln chr16 87418759 87418762 VAR_007228 - P34059:p.Arg386Cys chr16 87418759 87418762 VAR_024913 - P34059:p.Arg386His chr16 87418753 87418756 VAR_024914 - P34059:p.Asp388Asn chr16 87418744 87418747 VAR_007229 - P34059:p.Met391Val chr16 87418741 87418744 VAR_024915 - P34059:p.Ala392Val chr16 87418738 87418741 VAR_007230 - P34059:p.Ala393Ser chr16 87418732 87418735 VAR_007231 - P34059:p.Leu395Pro chr16 87418732 87418735 VAR_007232 - P34059:p.Leu395Val chr16 87418723 87418726 VAR_024916 - P34059:p.His398Asp chr16 87418714 87418717 VAR_024917 - P34059:p.His401Tyr chr16 87418705 87418711 VAR_024918 - P34059:p.403_404del chr16 87418696 87418699 VAR_007233 - P34059:p.Asn407His chr16 87418690 87418693 VAR_007234 - P34059:p.Trp409Ser chr16 87416511 87416514 VAR_007235 - P34059:p.Glu450Val chr16 87416505 87416508 VAR_024919 - P34059:p.Phe452Ile chr16 87412020 87412023 VAR_007236 - P34059:p.Ala459Val chr16 87411987 87411990 VAR_024920 - P34059:p.Ser470Pro chr16 87411945 87411948 VAR_024921 - P34059:p.Pro484Ser chr16 87411936 87411939 VAR_007237 - P34059:p.Asn487Ser chr16 87411933 87411936 VAR_007238 - P34059:p.Val488Met chr16 87411915 87411918 VAR_007239 - P34059:p.Met494Val chr16 87408386 87408389 VAR_036493 - P34059:p.Pro510Thr chr19 61385429 61385432 VAR_020426 + Q9UBC7:p.Ile72Met chr18 31526222 31526225 VAR_033946 + Q10472:p.Tyr414Asp chr1 226721882 226721885 VAR_019575 + Q10471:p.Val554Met chr2 157940330 157940333 VAR_019578 + Q7Z7M9:p.Pro77Leu chr2 157966311 157966314 VAR_019579 + Q7Z7M9:p.Gln489His chr2 157966365 157966368 VAR_035991 + Q7Z7M9:p.Glu507Asp chr2 157981643 157981646 VAR_035992 + Q7Z7M9:p.Leu692Phe chr12 50039281 50039284 VAR_019580 - Q8NCL4:p.Val423Ile chr12 4700260 4700263 VAR_019581 + Q9NY28:p.Tyr53Asp chr12 4700260 4700263 VAR_019582 + Q9NY28:p.Tyr53Asn chr12 4723966 4723969 VAR_033947 + Q9NY28:p.Glu234Lys chr12 4724065 4724068 VAR_019583 + Q9NY28:p.Glu267Gly chr12 4724928 4724931 VAR_019584 + Q9NY28:p.Phe312Ser chr12 4725003 4725006 VAR_019585 + Q9NY28:p.Ala337Val chr12 4740522 4740525 VAR_019586 + Q9NY28:p.Asp438Gly chr12 4743423 4743426 VAR_019587 + Q9NY28:p.Val515Phe chr12 4751940 4751943 VAR_019588 + Q9NY28:p.Val611Met chr9 34636782 34636783 VAR_002548 + P07902:p.Asp28Tyr chr9 34637085 34637087 VAR_002548 + P07902:p.Asp28Tyr chr9 34637096 34637099 VAR_002549 + P07902:p.Ile32Asn chr9 34637114 34637117 VAR_002550 + P07902:p.Gln38Pro chr9 34637132 34637135 VAR_002551 + P07902:p.Val44Leu chr9 34637132 34637135 VAR_002552 + P07902:p.Val44Met chr9 34637135 34637138 VAR_008042 + P07902:p.Ser45Leu chr9 34637153 34637156 VAR_002553 + P07902:p.Arg51Leu chr9 34637153 34637156 VAR_023328 + P07902:p.Arg51Gln chr9 34637165 34637168 VAR_002554 + P07902:p.Gly55Cys chr9 34637186 34637189 VAR_002555 + P07902:p.Leu62Met chr9 34637201 34637204 VAR_002556 + P07902:p.Arg67Cys chr9 34637222 34637225 VAR_002557 + P07902:p.Leu74Pro chr9 34637243 34637246 VAR_002558 + P07902:p.Ala81Thr chr9 34637524 34637527 VAR_002559 + P07902:p.Asn97Ser chr9 34637527 34637530 VAR_002560 + P07902:p.Asp98Asn chr9 34637661 34637664 VAR_002561 + P07902:p.Asp113Asn chr9 34637664 34637667 VAR_002562 + P07902:p.His114Leu chr9 34637673 34637676 VAR_002563 + P07902:p.Phe117Ser chr9 34637676 34637679 VAR_002564 + P07902:p.Gln118His chr9 34637691 34637694 VAR_002565 + P07902:p.Arg123Gly chr9 34637691 34637694 VAR_002566 + P07902:p.Arg123Gln chr9 34637697 34637700 VAR_002567 + P07902:p.Val125Ala chr9 34637829 34637832 VAR_002568 + P07902:p.Lys127Glu chr9 34637835 34637838 VAR_008043 + P07902:p.Met129Thr chr9 34637838 34637841 VAR_002569 + P07902:p.Cys130Tyr chr9 34637844 34637847 VAR_002570 + P07902:p.His132Tyr chr9 34637853 34637856 VAR_002571 + P07902:p.Ser135Leu chr9 34637853 34637856 VAR_023329 + P07902:p.Ser135Trp chr9 34637862 34637865 VAR_002572 + P07902:p.Thr138Met chr9 34637865 34637868 VAR_002573 + P07902:p.Leu139Pro chr9 34637874 34637877 VAR_002574 + P07902:p.Met142Lys chr9 34637874 34637877 VAR_002575 + P07902:p.Met142Val chr9 34637877 34637880 VAR_002576 + P07902:p.Ser143Leu chr9 34637892 34637895 VAR_002577 + P07902:p.Arg148Gly chr9 34637892 34637895 VAR_002578 + P07902:p.Arg148Gln chr9 34637892 34637895 VAR_002579 + P07902:p.Arg148Trp chr9 34637898 34637901 VAR_002580 + P07902:p.Val150Leu chr9 34637901 34637904 VAR_002581 + P07902:p.Val151Ala chr9 34637910 34637913 VAR_002582 + P07902:p.Trp154Gly chr9 34637949 34637952 VAR_008044 + P07902:p.Trp167Arg chr9 34638114 34638117 VAR_002583 + P07902:p.Phe171Ser chr9 34638138 34638141 VAR_002584 + P07902:p.Gly179Asp chr9 34638150 34638153 VAR_002585 + P07902:p.Pro183Thr chr9 34638153 34638156 VAR_002586 + P07902:p.His184Gln chr9 34638165 34638168 VAR_002587 + P07902:p.Gln188Arg chr9 34638339 34638342 VAR_002588 + P07902:p.Ser192Asn chr9 34638345 34638348 VAR_002589 + P07902:p.Phe194Leu chr9 34638348 34638351 VAR_002590 + P07902:p.Leu195Pro chr9 34638357 34638360 VAR_002591 + P07902:p.Ile198Met chr9 34638357 34638360 VAR_002592 + P07902:p.Ile198Thr chr9 34638360 34638363 VAR_002593 + P07902:p.Ala199Thr chr9 34638366 34638369 VAR_002594 + P07902:p.Arg201His chr9 34638372 34638375 VAR_002595 + P07902:p.Glu203Lys chr9 34638375 34638378 VAR_008045 + P07902:p.Arg204Pro chr9 34638390 34638393 VAR_002596 + P07902:p.Tyr209Cys chr9 34638390 34638393 VAR_002597 + P07902:p.Tyr209Ser chr9 34638399 34638402 VAR_002598 + P07902:p.Gln212His chr9 34638414 34638417 VAR_002599 + P07902:p.Leu217Pro chr9 34638441 34638444 VAR_002600 + P07902:p.Leu226Pro chr9 34638450 34638453 VAR_023330 + P07902:p.Lys229Asn chr9 34638761 34638764 VAR_002601 + P07902:p.Arg231His chr9 34638815 34638818 VAR_002602 + P07902:p.Trp249Arg chr9 34638821 34638824 VAR_002603 + P07902:p.Tyr251Cys chr9 34638821 34638824 VAR_002604 + P07902:p.Tyr251Ser chr9 34638824 34638827 VAR_023331 + P07902:p.Gln252His chr9 34638842 34638845 VAR_002605 + P07902:p.Arg258Cys chr9 34638845 34638848 VAR_002606 + P07902:p.Arg259Trp chr9 34638854 34638857 VAR_002607 + P07902:p.Arg262Pro chr9 34638857 34638860 VAR_008046 + P07902:p.263del chr9 34638884 34638887 VAR_008047 + P07902:p.Arg272Gly chr9 34639017 34639020 VAR_002608 + P07902:p.Leu282Val chr9 34639026 34639029 VAR_002609 + P07902:p.Lys285Asn chr9 34639038 34639041 VAR_002610 + P07902:p.Leu289Arg chr9 34639044 34639047 VAR_002611 + P07902:p.Glu291Lys chr9 34639053 34639056 VAR_008048 + P07902:p.Phe294Tyr chr9 34639423 34639426 VAR_002612 + P07902:p.Glu308Lys chr9 34639441 34639444 VAR_002613 + P07902:p.Asn314Asp chr9 34639450 34639453 VAR_002614 + P07902:p.Gln317His chr9 34639450 34639453 VAR_002615 + P07902:p.Gln317Arg chr9 34639456 34639459 VAR_002616 + P07902:p.His319Gln chr9 34639459 34639462 VAR_002617 + P07902:p.Ala320Thr chr9 34639468 34639471 VAR_002618 + P07902:p.Tyr323Asp chr9 34639468 34639471 VAR_002619 + P07902:p.Tyr323His chr9 34639471 34639474 VAR_002620 + P07902:p.Pro324Ser chr9 34639474 34639477 VAR_002621 + P07902:p.Pro325Leu chr9 34639483 34639486 VAR_002622 + P07902:p.Arg328His chr9 34639486 34639489 VAR_002623 + P07902:p.Ser329Phe chr9 34639489 34639492 VAR_002624 + P07902:p.Ala330Val chr9 34639498 34639501 VAR_002625 + P07902:p.Arg333Gly chr9 34639498 34639501 VAR_002626 + P07902:p.Arg333Gln chr9 34639498 34639501 VAR_002627 + P07902:p.Arg333Trp chr9 34639501 34639504 VAR_002628 + P07902:p.Lys334Arg chr9 34639507 34639510 VAR_002629 + P07902:p.Met336Leu chr9 34639531 34639534 VAR_002630 + P07902:p.Gln344Lys chr9 34639549 34639552 VAR_002631 + P07902:p.Thr350Ala chr19 1348441 1348444 VAR_025723 - Q14353:p.Thr209Met chr11 62158966 62158969 VAR_024529 - Q14697:p.Arg154Trp chr11 62158909 62158912 VAR_022086 - Q14697:p.Arg173Gln chr16 79906261 79906264 VAR_010759 + Q9H2C0:p.Arg15Ser chr16 79906372 79906375 VAR_010760 + Q9H2C0:p.Ser52Gly chr16 79942755 79942758 VAR_010761 + Q9H2C0:p.Ser79Leu chr16 79942764 79942767 VAR_010762 + Q9H2C0:p.Val82Phe chr16 79942776 79942779 VAR_015680 + Q9H2C0:p.Ile86Phe chr16 79945639 79945642 VAR_010763 + Q9H2C0:p.Arg138His chr16 79948061 79948064 VAR_010764 + Q9H2C0:p.Arg269Gln chr16 79948988 79948991 VAR_010765 + Q9H2C0:p.Leu309Arg chr16 79954914 79954917 VAR_015681 + Q9H2C0:p.Gly368Arg chr16 79956109 79956112 VAR_015560 + Q9H2C0:p.Ile423Thr chr16 79956537 79956540 VAR_010757 + Q9H2C0:p.Glu486Lys chr16 79968540 79968543 VAR_010766 + Q9H2C0:p.Arg545Cys chr16 79968615 79968618 VAR_010767 + Q9H2C0:p.Cys570Tyr chr16 88630333 88630336 VAR_016006 + O95995:p.Glu199Lys chrX 101715928 101715931 VAR_026579 + Q5JY77:p.Ala315Gly chr11 6237842 6237845 VAR_014684 + P32239:p.Leu37Phe chr11 6247695 6247698 VAR_014685 + P32239:p.Val125Ile chr11 6248132 6248135 VAR_014686 + P32239:p.Arg215His chr11 6248959 6248962 VAR_014687 + P32239:p.Arg319Gln chrX 48406992 48406995 VAR_010115 + P15976:p.Val205Met chrX 48407001 48407004 VAR_012706 + P15976:p.Gly208Ser chrX 48407025 48407028 VAR_033114 + P15976:p.Arg216Gln chrX 48407031 48407034 VAR_012707 + P15976:p.Asp218Gly chrX 48407031 48407034 VAR_033115 + P15976:p.Asp218Tyr chr10 8140755 8140758 VAR_019202 + P23771:p.Gly242Ser chr10 8146005 8146008 VAR_017818 + P23771:p.Trp274Arg chr10 8155755 8155758 VAR_033025 + P23771:p.Arg366Leu chr7 91721853 91721856 VAR_032533 + Q8WUU5:p.Gly54Ser chr15 43448969 43448972 VAR_020305 - P50440:p.Gln110His chr12 6822620 6822623 VAR_014756 + P16520:p.Asp76Asn chr12 6825124 6825127 VAR_014757 + P16520:p.Gly272Ser chr12 6825148 6825151 VAR_029304 + P16520:p.Leu280Phe chr12 6826269 6826272 VAR_029305 + P16520:p.Gly324Glu chr12 6826314 6826317 VAR_014758 + P16520:p.Trp339Leu chr7 93184803 93184806 VAR_033949 + P63211:p.Glu50Lys chr9 133067293 133067296 VAR_022452 - Q8N5D6:p.Leu20Phe chr9 133067290 133067293 VAR_025068 - Q8N5D6:p.Ser21Gly chr9 133060240 133060243 VAR_025069 - Q8N5D6:p.Leu79Pro chr9 133059072 133059075 VAR_025070 - Q8N5D6:p.Arg163Trp chr9 133058961 133058964 VAR_025071 - Q8N5D6:p.Asp200Asn chr9 133058847 133058850 VAR_025072 - Q8N5D6:p.Gln238Pro chr9 133058817 133058820 VAR_025073 - Q8N5D6:p.Thr248Ile chr9 133058688 133058691 VAR_025074 - Q8N5D6:p.Ile291Phe chr1 89237984 89237987 VAR_033950 - P32455:p.Ile78Val chr1 89236677 89236680 VAR_033951 - P32455:p.Glu166Asp chr1 89186731 89186734 VAR_029084 - Q9H0R5:p.Val526Ala chr1 89371104 89371107 VAR_028283 - Q96PP9:p.Lys125Glu chr1 89367801 89367804 VAR_028284 - Q96PP9:p.Ile379Val chr1 89364120 89364123 VAR_028285 - Q96PP9:p.Tyr541Asn chr1 89364117 89364120 VAR_033952 - Q96PP9:p.Met542Ile chr1 89364108 89364111 VAR_033953 - Q96PP9:p.Met545Ile chr1 89364108 89364111 VAR_033954 - Q96PP9:p.Met545Leu chr1 89364105 89364108 VAR_033955 - Q96PP9:p.Glu546Lys chr1 89364096 89364099 VAR_028286 - Q96PP9:p.Leu549Met chr1 89364090 89364093 VAR_028288 - Q96PP9:p.Glu551Gly chr1 89364090 89364093 VAR_028287 - Q96PP9:p.Glu551Lys chr1 89447154 89447157 VAR_033956 - Q96PP8:p.Thr35Met chr1 89558171 89558174 VAR_037750 + Q6ZN66:p.Thr278Ile chr1 89559392 89559395 VAR_037751 + Q6ZN66:p.Ala331Ser chr1 89559431 89559434 VAR_037752 + Q6ZN66:p.Leu344Phe chr1 89559464 89559467 VAR_037753 + Q6ZN66:p.Met355Val chr1 89561761 89561764 VAR_037754 + Q6ZN66:p.Asp520Val chr1 89309915 89309918 VAR_037688 - Q8N8V2:p.Gly618Arg chr5 161255356 161255359 VAR_013642 + P14867:p.Ala322Asp chr5 161049227 161049230 VAR_036033 + Q16445:p.Pro180His chr5 161049248 161049251 VAR_036782 + Q16445:p.Thr187Met chr5 161061204 161061207 VAR_036783 + Q16445:p.Pro404Ser chr4 47268798 47268801 VAR_000302 + P18505:p.His421Gln chr4 47268822 47268825 VAR_035441 + P18505:p.Ile429Asn chr5 161453547 161453550 VAR_014265 + P18507:p.Arg82Gln chr5 161457422 161457425 VAR_038602 + P18507:p.Arg177Gly chr5 161508750 161508753 VAR_014266 + P18507:p.Lys328Met chr15 25446361 25446364 VAR_033957 + Q99928:p.Thr352Ala chr5 170171687 170171690 VAR_020323 + O00591:p.Phe391Leu chr5 170171762 170171765 VAR_036034 + O00591:p.His416Arg chr6 89983679 89983682 VAR_024361 - P24046:p.His21Arg chrX 151477266 151477269 VAR_030761 + Q9UN88:p.Leu15Ile chrX 151491844 151491847 VAR_030762 + Q9UN88:p.Phe478Ile chr7 126818929 126818932 VAR_021902 - Q96CN9:p.Arg86Trp chr7 126818926 126818929 VAR_020157 - Q96CN9:p.Cys87Trp chr2 108561583 108561586 VAR_016101 + Q8IWJ2:p.Arg1197Gly chr19 12863778 12863781 VAR_000366 + Q92947:p.Arg88Cys chr19 12863937 12863940 VAR_000367 + Q92947:p.Arg94Leu chr19 12863958 12863961 VAR_000368 + Q92947:p.Gly101Arg chr19 12865304 12865307 VAR_000369 + Q92947:p.Cys115Tyr chr19 12865325 12865328 VAR_000370 + Q92947:p.Ala122Val chr19 12865343 12865346 VAR_000371 + Q92947:p.Arg128Gly chr19 12865373 12865376 VAR_000372 + Q92947:p.Arg138Gly chr19 12865376 12865379 VAR_000373 + Q92947:p.Ser139Leu chr19 12865403 12865406 VAR_000374 + Q92947:p.Val148Ile chr19 12865442 12865445 VAR_000375 + Q92947:p.Arg161Gln chr19 12867831 12867834 VAR_000376 + Q92947:p.Gly178Arg chr19 12867834 12867837 VAR_000377 + Q92947:p.Leu179Arg chr19 12867870 12867873 VAR_000378 + Q92947:p.Met191Thr chr19 12867882 12867885 VAR_000379 + Q92947:p.Ala195Thr chr19 12868061 12868064 VAR_000380 + Q92947:p.Arg227Pro chr19 12868088 12868091 VAR_000381 + Q92947:p.Phe236Leu chr19 12868151 12868154 VAR_000382 + Q92947:p.Arg257Gln chr19 12868151 12868154 VAR_000383 + Q92947:p.Arg257Trp chr19 12868178 12868181 VAR_000384 + Q92947:p.Met266Val chr19 12868214 12868217 VAR_000385 + Q92947:p.Pro278Ser chr19 12868229 12868232 VAR_000386 + Q92947:p.Leu283Pro chr19 12868747 12868750 VAR_000387 + Q92947:p.Ala293Thr chr19 12868750 12868753 VAR_000388 + Q92947:p.Arg294Trp chr19 12868753 12868756 VAR_000389 + Q92947:p.Tyr295His chr19 12868762 12868765 VAR_000390 + Q92947:p.Ala298Thr chr19 12868762 12868765 VAR_000391 + Q92947:p.Ala298Val chr19 12868783 12868786 VAR_000392 + Q92947:p.Ser305Leu chr19 12868792 12868795 VAR_000393 + Q92947:p.Cys308Ser chr19 12868795 12868798 VAR_000394 + Q92947:p.Leu309Trp chr19 12868807 12868810 VAR_000395 + Q92947:p.Arg313Trp chr19 12869156 12869159 VAR_000396 + Q92947:p.Gln333Glu chr19 12869204 12869207 VAR_000397 + Q92947:p.Ala349Thr chr19 12869219 12869222 VAR_000398 + Q92947:p.Gly354Arg chr19 12869219 12869222 VAR_000399 + Q92947:p.Gly354Ser chr19 12869222 12869225 VAR_000400 + Q92947:p.Arg355Cys chr19 12869222 12869225 VAR_000401 + Q92947:p.Arg355His chr19 12869526 12869529 VAR_000402 + Q92947:p.Glu365Lys chr19 12869556 12869559 VAR_000403 + Q92947:p.Cys375Arg chr19 12869577 12869580 VAR_000404 + Q92947:p.Ala382Thr chr19 12869580 12869583 VAR_000405 + Q92947:p.Arg383Cys chr19 12869580 12869583 VAR_000406 + Q92947:p.Arg383His chr19 12869589 12869592 VAR_000407 + Q92947:p.Arg386Gln chr19 12869601 12869604 VAR_000409 + Q92947:p.Gly390Ala chr19 12869601 12869604 VAR_000408 + Q92947:p.Gly390Arg chr19 12869607 12869610 VAR_000410 + Q92947:p.Asn392Asp chr19 12869631 12869634 VAR_000411 + Q92947:p.Val400Met chr19 12869637 12869640 VAR_000413 + Q92947:p.Arg402Gln chr19 12869637 12869640 VAR_000412 + Q92947:p.Arg402Trp chr19 12869640 12869643 VAR_000414 + Q92947:p.His403Arg chr19 12869649 12869652 VAR_000415 + Q92947:p.Asn406Lys chr19 12869652 12869655 VAR_000416 + Q92947:p.Leu407Pro chr19 12869673 12869676 VAR_000417 + Q92947:p.Glu414Lys chr19 12871283 12871286 VAR_000418 + Q92947:p.Thr416Ile chr19 12871298 12871301 VAR_000419 + Q92947:p.Ala421Thr chr19 12871298 12871301 VAR_000420 + Q92947:p.Ala421Val chr19 12871322 12871325 VAR_000421 + Q92947:p.Thr429Met chr19 12871334 12871337 VAR_000422 + Q92947:p.Ala433Glu chr14 54439086 54439089 VAR_002632 - P30793:p.Gly15Asp chr14 54439062 54439065 VAR_002633 - P30793:p.Pro23Leu chr14 54438918 54438921 VAR_016888 - P30793:p.Leu71Gln chr14 54438909 54438912 VAR_016889 - P30793:p.Ala74Val chr14 54438894 54438897 VAR_002634 - P30793:p.Leu79Pro chr14 54438882 54438885 VAR_016890 - P30793:p.Gly83Ala chr14 54438864 54438870 VAR_016891 - P30793:p.88_89del chr14 54438867 54438870 VAR_002635 - P30793:p.Arg88Pro chr14 54438867 54438870 VAR_002636 - P30793:p.Arg88Trp chr14 54438861 54438864 VAR_016892 - P30793:p.Gly90Val chr14 54438825 54438828 VAR_002637 - P30793:p.Met102Lys chr14 54438825 54438828 VAR_016893 - P30793:p.Met102Arg chr14 54438807 54438810 VAR_016894 - P30793:p.Gly108Asp chr14 54401845 54401848 VAR_002638 - P30793:p.Asp134Val chr14 54401842 54401845 VAR_016896 - P30793:p.Ile135Lys chr14 54401824 54401827 VAR_016897 - P30793:p.Cys141Arg chr14 54401824 54401827 VAR_002639 - P30793:p.Cys141Trp chr14 54401815 54401818 VAR_002640 - P30793:p.His144Pro chr14 54396198 54396201 VAR_002641 - P30793:p.His153Pro chr14 54396168 54396171 VAR_016898 - P30793:p.Leu163Arg chr14 54383579 54383582 VAR_016899 - P30793:p.Ser176Thr chr14 54383573 54383576 VAR_002642 - P30793:p.Arg178Ser chr14 54383567 54383570 VAR_016900 - P30793:p.Gln180Arg chr14 54382309 54382312 VAR_002643 - P30793:p.Arg184His chr14 54382303 54382306 VAR_002644 - P30793:p.Thr186Lys chr14 54382288 54382291 VAR_016901 - P30793:p.Val191Ile chr14 54382264 54382267 VAR_016902 - P30793:p.Pro199Leu chr14 54382258 54382261 VAR_002645 - P30793:p.Gly201Glu chr14 54382252 54382255 VAR_002646 - P30793:p.Gly203Arg chr14 54380604 54380607 VAR_002647 - P30793:p.Met211Ile chr14 54380604 54380607 VAR_016903 - P30793:p.Met211Val chr14 54380598 54380601 VAR_016904 - P30793:p.Met213Val chr14 54380574 54380577 VAR_016905 - P30793:p.Met221Thr chr14 54380565 54380568 VAR_002648 - P30793:p.Lys224Arg chr14 54380535 54380538 VAR_002649 - P30793:p.Phe234Ser chr14 54380514 54380517 VAR_016906 - P30793:p.Arg241Trp chr14 54380490 54380493 VAR_016907 - P30793:p.Arg249Ser chr2 27632091 27632094 VAR_018849 + Q14397:p.Glu77Gly chr2 27640250 27640253 VAR_018850 + Q14397:p.Gly256Ser chr2 27657022 27657025 VAR_018851 + Q14397:p.Arg540Gln chr5 74360655 74360658 VAR_032444 - Q9P109:p.Val321Ile chr5 74360301 74360304 VAR_032445 - Q9P109:p.Pro439Ser chr10 135001934 135001937 VAR_022126 - Q9BSJ2:p.Ala111Thr chr1 222659232 222659235 VAR_019615 - Q9H3P7:p.Glu187Asp chr22 48967067 48967070 VAR_031594 - Q96RT7:p.Leu567Ser chr5 142760528 142760531 VAR_014140 - P04150:p.Arg23Lys chr5 142760510 142760513 VAR_015628 - P04150:p.Phe29Leu chr5 142760402 142760405 VAR_014622 - P04150:p.Phe65Val chr5 142760261 142760264 VAR_015629 - P04150:p.Leu112Phe chr5 142759898 142759901 VAR_015630 - P04150:p.Asp233Asn chr5 142759508 142759511 VAR_004675 - P04150:p.Asn363Ser chr5 142673847 142673850 VAR_015631 - P04150:p.Cys421Tyr chr5 142669891 142669894 VAR_013472 - P04150:p.Arg477His chr5 142660312 142660315 VAR_015632 - P04150:p.Ile559Asn chr5 142660276 142660279 VAR_025014 - P04150:p.Val571Ala chr5 142655317 142655320 VAR_004676 - P04150:p.Asp641Val chr5 142642469 142642472 VAR_013473 - P04150:p.Gly679Ser chr5 142641793 142641796 VAR_004677 - P04150:p.Val729Ile chr5 142641739 142641742 VAR_015633 - P04150:p.Ile747Met chr5 142641721 142641724 VAR_004678 - P04150:p.Leu753Phe chr2 74602039 74602042 VAR_019361 - Q13724:p.Glu236Gln chr2 74602030 74602033 VAR_019362 - Q13724:p.Asp239Asn chr2 74601112 74601115 VAR_018966 - Q13724:p.Arg486Thr chr2 74600614 74600617 VAR_018967 - Q13724:p.Phe652Leu chr3 49434672 49434675 VAR_007951 - P48728:p.His42Arg chr3 49434657 49434660 VAR_007952 - P48728:p.Gly47Arg chr3 49432683 49432686 VAR_016847 - P48728:p.Asn145Ile chr3 49431759 49431762 VAR_016848 - P48728:p.Glu211Lys chr3 49431477 49431480 VAR_007953 - P48728:p.Gly269Asp chr3 49431456 49431459 VAR_007954 - P48728:p.Asp276His chr3 49430327 49430330 VAR_007955 - P48728:p.Arg320His chr11 106063640 106063643 VAR_036420 - P33402:p.Glu681Val chr11 106063628 106063631 VAR_036421 - P33402:p.Asn685Thr chr20 42320534 42320537 VAR_036556 + Q96MZ0:p.Arg141Trp chr8 75434973 75434976 VAR_017184 + Q8TB36:p.Arg120Gln chr8 75435096 75435099 VAR_017185 + Q8TB36:p.Arg161His chr8 75438923 75438926 VAR_017186 + Q8TB36:p.Arg282Cys chr8 75439007 75439010 VAR_017187 + Q8TB36:p.Arg310Gln chr20 5504510 5504513 VAR_022060 - Q9NPB8:p.Thr273Ile chr1 100039108 100039111 VAR_032084 + P35573:p.Thr38Ala chr1 100047996 100047999 VAR_028051 + P35573:p.Gln229Arg chr1 100052806 100052809 VAR_009621 + P35573:p.Arg387Gln chr1 100058967 100058970 VAR_028052 + P35573:p.Ala701Ser chr1 100068867 100068870 VAR_032085 + P35573:p.Ser962Cys chr1 100070123 100070126 VAR_020389 + P35573:p.Pro1067Ser chr1 100073945 100073948 VAR_009230 + P35573:p.Gly1115Arg chr1 100078279 100078282 VAR_028053 + P35573:p.Ile1144Asn chr1 100088344 100088347 VAR_028054 + P35573:p.Arg1253His chr1 100091180 100091183 VAR_009622 + P35573:p.Glu1343Lys chr1 100094068 100094071 VAR_009231 + P35573:p.Gly1448Arg chr1 100094285 100094288 VAR_028055 + P35573:p.Arg1487Gly chr12 7733851 7733854 VAR_020064 - Q9NR23:p.Val328Leu chr20 33488633 33488636 VAR_037977 - P43026:p.Arg163Gly chr20 33488603 33488606 VAR_037978 - P43026:p.Met173Val chr20 33485798 33485801 VAR_026120 - P43026:p.Ser276Ala chr20 33485426 33485429 VAR_017407 - P43026:p.Cys400Tyr chr20 33485315 33485318 VAR_037979 - P43026:p.437del chr20 33485312 33485315 VAR_026545 - P43026:p.Arg438Leu chr20 33485309 33485312 VAR_037980 - P43026:p.Ser439Thr chr20 33485306 33485309 VAR_037981 - P43026:p.His440Leu chr20 33485303 33485306 VAR_017408 - P43026:p.Leu441Pro chr20 33485201 33485204 VAR_037982 - P43026:p.Ser475Asn chr20 33485153 33485156 VAR_037983 - P43026:p.Glu491Lys chr8 97241766 97241769 VAR_023599 - Q6KF10:p.Lys110Glu chr2 190752663 190752666 VAR_014475 - O14793:p.Ala55Thr chr2 190750581 190750584 VAR_014476 - O14793:p.Lys153Arg chrX 153234645 153234648 VAR_008131 + P31150:p.Arg423Pro chr5 37870592 37870595 VAR_009494 - P39905:p.Pro21Ser chr5 37851866 37851869 VAR_009495 - P39905:p.Arg93Trp chr5 37851695 37851698 VAR_009496 - P39905:p.Asp150Asn chr5 37851683 37851686 VAR_009497 - P39905:p.Thr154Ser chr5 37851512 37851515 VAR_018152 - P39905:p.Ile211Met chr2 224682097 224682100 VAR_036027 - P07093:p.Lys204Asn chr11 74829888 74829891 VAR_027733 - Q8WTR4:p.Ala480Thr chr9 121141756 121141759 VAR_036337 + P06396:p.Ser22Leu chr9 121144777 121144780 VAR_024690 + P06396:p.Ala129Thr chr9 121152611 121152614 VAR_036338 + P06396:p.Thr201Ile chr9 121152650 121152653 VAR_007718 + P06396:p.Asp214Asn chr9 121152650 121152653 VAR_007719 + P06396:p.Asp214Tyr chr9 121169229 121169232 VAR_036339 + P06396:p.Ser611Asn chr9 121170808 121170811 VAR_033958 + P06396:p.Arg668Leu chr2 38920598 38920601 VAR_020391 + Q8WXD5:p.Gly140Asp chr6 24885495 24885498 VAR_033959 + O75496:p.Asn15His chr6 24888869 24888872 VAR_024233 + O75496:p.Asn18Thr chr6 24889695 24889698 VAR_033960 + O75496:p.Leu48Phe chr6 24889713 24889716 VAR_033961 + O75496:p.Arg54Trp chr8 95341778 95341781 VAR_020097 - P55040:p.Arg43Gly chr17 40348239 40348242 VAR_017464 - P14136:p.Pro47Leu chr17 40348152 40348155 VAR_017465 - P14136:p.Leu76Phe chr17 40348149 40348152 VAR_017466 - P14136:p.Asn77Tyr chr17 40348146 40348149 VAR_017477 - P14136:p.Asp78Glu chr17 40348143 40348146 VAR_017467 - P14136:p.Arg79Cys chr17 40348143 40348146 VAR_017468 - P14136:p.Arg79His chr17 40348116 40348119 VAR_017469 - P14136:p.Arg88Cys chr17 40348116 40348119 VAR_017470 - P14136:p.Arg88Ser chr17 40346273 40346276 VAR_017478 - P14136:p.Glu223Gln chr17 40346225 40346228 VAR_017471 - P14136:p.Arg239Cys chr17 40346225 40346228 VAR_017472 - P14136:p.Arg239His chr17 40346210 40346213 VAR_017473 - P14136:p.Ala244Val chr17 40346168 40346171 VAR_017474 - P14136:p.Arg258Pro chr17 40344586 40344589 VAR_017479 - P14136:p.Asp295Asn chr17 40344170 40344173 VAR_017475 - P14136:p.Glu362Asp chr17 40340966 40340969 VAR_017476 - P14136:p.Arg416Trp chr9 132894724 132894727 VAR_035556 + Q5VTD9:p.Arg231His chr1 92653729 92653732 VAR_016212 - Q99684:p.Asn382Ser chr1 92653666 92653669 VAR_016213 - Q99684:p.Lys403Arg chr5 179673430 179673433 VAR_013311 - O94808:p.Ile471Val chr10 118020402 118020405 VAR_012488 - P56159:p.Tyr85Asn chr10 117839340 117839343 VAR_012489 - P56159:p.Thr366Ala chr10 117839325 117839328 VAR_018261 - P56159:p.Leu371Arg chr6 55324221 55324224 VAR_036234 + Q6UXV0:p.Asp195His chr12 99053462 99053465 VAR_038142 - Q9HBQ8:p.Ala110Val chr16 23397209 23397212 VAR_028275 - Q9UJY4:p.Ala424Pro chr17 70747108 70747111 VAR_036524 - Q9NZ52:p.Pro574Leu chrX 55172792 55172795 VAR_027097 - Q5JUK9:p.Asn35Asp chrX 55172738 55172741 VAR_027098 - Q5JUK9:p.Gly53Ser chr8 64113863 64113866 VAR_014697 - Q92820:p.Cys6Arg chr8 64113788 64113791 VAR_029230 - Q92820:p.Ala31Thr chr8 64101316 64101319 VAR_029231 - Q92820:p.Thr151Ile chr22 23331752 23331755 VAR_025545 + P19440:p.Ser51Leu chr22 23331755 23331758 VAR_018373 + P19440:p.Lys52Glu chr22 23340994 23340997 VAR_018374 + P19440:p.Ala177Val chr22 23343707 23343710 VAR_018372 + P19440:p.Val272Ala chr22 23348418 23348421 VAR_025546 + P19440:p.Asn419Asp chr17 4410445 4410448 VAR_038138 - Q6P531:p.Arg40Trp chr17 4409770 4409773 VAR_038139 - Q6P531:p.Ala58Val chr22 21313808 21313811 VAR_035113 + Q14390:p.Glu70Gly chr11 782427 782430 VAR_022737 - Q9H936:p.Pro206Leu chr7 30781763 30781766 VAR_036223 + Q02643:p.Ala45Thr chr7 30781925 30781928 VAR_033962 + Q02643:p.Ala57Thr chr7 30782813 30782816 VAR_033963 + Q02643:p.Glu121Asp chr7 30784036 30784039 VAR_015796 + Q02643:p.Leu144His chr7 30784878 30784881 VAR_015797 + Q02643:p.Ala176Val chr7 30786905 30786908 VAR_015798 + Q02643:p.Ala222Glu chr7 30786914 30786917 VAR_033964 + Q02643:p.Val225Ile chr7 30786965 30786968 VAR_015799 + Q02643:p.Phe242Cys chr3 10303451 10303454 VAR_029135 - Q9UBU3:p.Gln90Leu chr5 42724777 42724780 VAR_018426 + P10912:p.Cys56Ser chr5 42724783 42724786 VAR_018427 + P10912:p.Ser58Leu chr5 42724795 42724798 VAR_002708 + P10912:p.Glu62Lys chr5 42724813 42724816 VAR_018428 + P10912:p.Trp68Arg chr5 42724876 42724878 VAR_002709 + P10912:p.Arg89Lys chr5 42730775 42730776 VAR_002709 + P10912:p.Arg89Lys chr5 42730848 42730851 VAR_002710 + P10912:p.Phe114Ser chr5 42730935 42730938 VAR_002711 + P10912:p.Val143Ala chr5 42735687 42735690 VAR_018429 + P10912:p.Pro149Gln chr5 42735726 42735729 VAR_002712 + P10912:p.Val162Asp chr5 42735726 42735729 VAR_020002 + P10912:p.Val162Phe chr5 42735726 42735729 VAR_018430 + P10912:p.Val162Ile chr5 42735750 42735753 VAR_002713 + P10912:p.Asp170His chr5 42735753 42735756 VAR_018431 + P10912:p.Ile171Thr chr5 42735756 42735759 VAR_018432 + P10912:p.Gln172Pro chr5 42735759 42735762 VAR_018433 + P10912:p.Val173Gly chr5 42735777 42735780 VAR_002714 + P10912:p.Arg179Cys chr5 42735777 42735780 VAR_013937 + P10912:p.Arg179His chr5 42747122 42747125 VAR_018434 + P10912:p.Tyr226Cys chr5 42747131 42747134 VAR_002715 + P10912:p.Arg229Gly chr5 42747131 42747134 VAR_013938 + P10912:p.Arg229His chr5 42747170 42747173 VAR_002716 + P10912:p.Glu242Asp chr5 42747176 42747179 VAR_018435 + P10912:p.Ser244Ile chr5 42747230 42747231 VAR_018436 + P10912:p.Asp262Asn chr5 42749287 42749289 VAR_018436 + P10912:p.Asp262Asn chr5 42754683 42754686 VAR_013939 + P10912:p.Cys440Phe chr5 42754758 42754761 VAR_032704 + P10912:p.Glu465Lys chr5 42754848 42754851 VAR_013940 + P10912:p.Pro495Thr chr5 42754995 42754998 VAR_013941 + P10912:p.Ile544Leu chr5 42755100 42755103 VAR_013942 + P10912:p.Pro579Thr chr3 173648293 173648296 VAR_032705 - Q92847:p.Ala204Glu chr10 99959556 99959559 VAR_023092 + Q7Z5L2:p.His566Arg chr10 99981396 99981399 VAR_023093 + Q7Z5L2:p.His656Arg chr7 149855235 149855238 VAR_036301 + Q8WWP7:p.Val166Glu chr7 149827502 149827505 VAR_017305 + Q9UG22:p.His161Arg chr7 149707187 149707190 VAR_017306 + Q9NUV9:p.Glu128Asp chr1 78223979 78223982 VAR_027084 + Q8TF65:p.Ser61Phe chr1 78297105 78297108 VAR_027085 + Q8TF65:p.Leu206Pro chr19 50869192 50869195 VAR_029333 + P48546:p.Arg136Trp chr19 50869909 50869912 VAR_011808 + P48546:p.Ala207Val chr19 50872196 50872199 VAR_011809 + P48546:p.Leu262Val chr19 50873231 50873234 VAR_011810 + P48546:p.Glu354Gln chr17 44394128 44394131 VAR_021897 - P09681:p.Ser103Gly chr17 44393260 44393263 VAR_033973 - P09681:p.Asn146Ser chr12 108853697 108853700 VAR_024368 - Q14161:p.Asn387Ser chr1 152022894 152022897 VAR_003255 - P04062:p.Val54Leu chr1 152022891 152022894 VAR_032394 - P04062:p.Cys55Ser chr1 152022867 152022870 VAR_032395 - P04062:p.Asp63Asn chr1 152022828 152022831 VAR_003256 - P04062:p.Phe76Val chr1 152022816 152022819 VAR_009033 - P04062:p.Glu80Lys chr1 152022810 152022813 VAR_003257 - P04062:p.Thr82Ile chr1 152022801 152022804 VAR_003258 - P04062:p.Gly85Glu chr1 152022795 152022798 VAR_032197 - P04062:p.Arg87Gln chr1 152022795 152022798 VAR_003259 - P04062:p.Arg87Trp chr1 152022780 152022783 VAR_032396 - P04062:p.Met92Thr chr1 152022579 152022582 VAR_003260 - P04062:p.Lys118Asn chr1 152022546 152022549 VAR_032397 - P04062:p.Ala129Thr chr1 152022495 152022498 VAR_009034 - P04062:p.Ser146Leu chr1 152021500 152021503 VAR_032398 - P04062:p.Asn156Asp chr1 152021494 152021497 VAR_032399 - P04062:p.Ile158Ser chr1 152021494 152021497 VAR_003262 - P04062:p.Ile158Thr chr1 152021491 152021494 VAR_003263 - P04062:p.Arg159Gln chr1 152021491 152021494 VAR_003264 - P04062:p.Arg159Trp chr1 152021485 152021488 VAR_032198 - P04062:p.Pro161Leu chr1 152021485 152021488 VAR_003265 - P04062:p.Pro161Ser chr1 152021482 152021485 VAR_032199 - P04062:p.Met162Val chr1 152021470 152021473 VAR_032200 - P04062:p.Asp166Val chr1 152021458 152021461 VAR_009035 - P04062:p.Arg170Cys chr1 152021458 152021461 VAR_009036 - P04062:p.Arg170Leu chr1 152021449 152021452 VAR_032400 - P04062:p.Thr173Ile chr1 152021449 152021452 VAR_003266 - P04062:p.Thr173Pro chr1 152021443 152021446 VAR_032401 - P04062:p.Ala175Glu chr1 152021431 152021434 VAR_003267 - P04062:p.Asp179His chr1 152021380 152021383 VAR_003268 - P04062:p.Lys196Gln chr1 152021164 152021167 VAR_009037 - P04062:p.Pro198Leu chr1 152021164 152021167 VAR_032402 - P04062:p.Pro198Thr chr1 152021158 152021161 VAR_032201 - P04062:p.Ile200Asn chr1 152021158 152021161 VAR_010059 - P04062:p.Ile200Ser chr1 152021155 152021158 VAR_032403 - P04062:p.His201Pro chr1 152021131 152021134 VAR_032404 - P04062:p.Arg209Cys chr1 152021131 152021134 VAR_003269 - P04062:p.Arg209Pro chr1 152021119 152021122 VAR_032202 - P04062:p.Leu213Phe chr1 152021113 152021116 VAR_003270 - P04062:p.Ala215Asp chr1 152021107 152021110 VAR_003271 - P04062:p.Pro217Ser chr1 152021095 152021098 VAR_032405 - P04062:p.Pro221Leu chr1 152021095 152021098 VAR_003272 - P04062:p.Pro221Thr chr1 152021089 152021092 VAR_003273 - P04062:p.Trp223Arg chr1 152021086 152021089 VAR_032203 - P04062:p.Leu224Phe chr1 152021077 152021080 VAR_003275 - P04062:p.Asn227Lys chr1 152021077 152021080 VAR_003274 - P04062:p.Asn227Ser chr1 152021074 152021077 VAR_010060 - P04062:p.Gly228Val chr1 152021071 152021074 VAR_009038 - P04062:p.Ala229Glu chr1 152021071 152021074 VAR_032406 - P04062:p.Ala229Thr chr1 152021068 152021071 VAR_032407 - P04062:p.Val230Glu chr1 152021068 152021071 VAR_003276 - P04062:p.Val230Gly chr1 152021062 152021065 VAR_032204 - P04062:p.Gly232Glu chr1 152021056 152021059 VAR_003277 - P04062:p.Gly234Glu chr1 152021056 152021059 VAR_009039 - P04062:p.Gly234Trp chr1 152021053 152021056 VAR_003278 - P04062:p.Ser235Pro chr1 152021047 152021050 VAR_032205 - P04062:p.Lys237Glu chr1 152021035 152021038 VAR_010061 - P04062:p.Gly241Glu chr1 152021035 152021038 VAR_003279 - P04062:p.Gly241Arg chr1 152021026 152021029 VAR_010062 - P04062:p.Tyr244Cys chr1 152021005 152021008 VAR_003280 - P04062:p.Tyr251His chr1 152021002 152021005 VAR_003281 - P04062:p.Phe252Ile chr1 152020438 152020441 VAR_003282 - P04062:p.Phe255Tyr chr1 152020393 152020396 VAR_032408 - P04062:p.Thr270Arg chr1 152020375 152020378 VAR_003283 - P04062:p.Ser276Pro chr1 152020333 152020336 VAR_032409 - P04062:p.Phe290Leu chr1 152020321 152020324 VAR_009040 - P04062:p.His294Gln chr1 152020315 152020318 VAR_003284 - P04062:p.Arg296Gln chr1 152020309 152020312 VAR_009041 - P04062:p.Phe298Leu chr1 152020294 152020297 VAR_032206 - P04062:p.Leu303Ile chr1 152020291 152020294 VAR_010063 - P04062:p.Gly304Asp chr1 152020288 152020291 VAR_003285 - P04062:p.Pro305Arg chr1 152020273 152020276 VAR_032410 - P04062:p.Ser310Gly chr1 152020273 152020276 VAR_010064 - P04062:p.Ser310Asn chr1 152020231 152020234 VAR_003286 - P04062:p.Arg324Cys chr1 152020231 152020234 VAR_009042 - P04062:p.Arg324His chr1 152020219 152020222 VAR_003287 - P04062:p.Pro328Leu chr1 152019306 152019309 VAR_003288 - P04062:p.Lys342Ile chr1 152019303 152019306 VAR_009043 - P04062:p.Tyr343Cys chr1 152019288 152019291 VAR_003289 - P04062:p.Ala348Val chr1 152019282 152019285 VAR_009044 - P04062:p.His350Arg chr1 152019279 152019282 VAR_003290 - P04062:p.Trp351Cys chr1 152019276 152019279 VAR_003291 - P04062:p.Tyr352His chr1 152019270 152019273 VAR_003292 - P04062:p.Asp354His chr1 152019261 152019264 VAR_003293 - P04062:p.Ala357Asp chr1 152019246 152019249 VAR_003294 - P04062:p.Thr362Ile chr1 152019243 152019246 VAR_003295 - P04062:p.Leu363Pro chr1 152019240 152019243 VAR_003296 - P04062:p.Gly364Arg chr1 152019237 152019240 VAR_003297 - P04062:p.Glu365Lys chr1 152019228 152019231 VAR_032411 - P04062:p.Arg368His chr1 152019192 152019195 VAR_009045 - P04062:p.Ala380Thr chr1 152019189 152019192 VAR_003298 - P04062:p.Cys381Gly chr1 152019168 152019171 VAR_032207 - P04062:p.Glu388Lys chr1 152019159 152019162 VAR_010065 - P04062:p.Val391Leu chr1 152019156 152019159 VAR_010066 - P04062:p.Arg392Gly chr1 152019156 152019159 VAR_032208 - P04062:p.Arg392Trp chr1 152019138 152019141 VAR_003299 - P04062:p.Arg398Gln chr1 152019132 152019135 VAR_032412 - P04062:p.Met400Ile chr1 152019126 152019129 VAR_032209 - P04062:p.Tyr402Cys chr1 152019123 152019126 VAR_003300 - P04062:p.Ser403Thr chr1 152019117 152019120 VAR_010067 - P04062:p.Ser405Gly chr1 152019117 152019120 VAR_009046 - P04062:p.Ser405Asn chr1 152019108 152019111 VAR_003301 - P04062:p.Thr408Met chr1 152018705 152018708 VAR_003302 - P04062:p.Asn409Ser chr1 152018702 152018705 VAR_032210 - P04062:p.Leu410Val chr1 152018690 152018693 VAR_010068 - P04062:p.Val414Leu chr1 152018684 152018687 VAR_003303 - P04062:p.Gly416Ser chr1 152018681 152018684 VAR_003304 - P04062:p.Trp417Gly chr1 152018675 152018678 VAR_003305 - P04062:p.Asp419Ala chr1 152018675 152018678 VAR_032211 - P04062:p.Asp419His chr1 152018675 152018678 VAR_003306 - P04062:p.Asp419Asn chr1 152018669 152018672 VAR_032212 - P04062:p.Asn421Lys chr1 152018654 152018657 VAR_010069 - P04062:p.Pro426Leu chr1 152018648 152018651 VAR_003307 - P04062:p.Gly428Glu chr1 152018645 152018648 VAR_032213 - P04062:p.Gly429Arg chr1 152018642 152018645 VAR_003308 - P04062:p.Pro430Leu chr1 152018639 152018642 VAR_003309 - P04062:p.Asn431Ile chr1 152018636 152018639 VAR_009047 - P04062:p.Trp432Arg chr1 152018633 152018636 VAR_003310 - P04062:p.Val433Leu chr1 152018627 152018630 VAR_003311 - P04062:p.Asn435Thr chr1 152018624 152018627 VAR_032214 - P04062:p.Phe436Ser chr1 152018621 152018624 VAR_009048 - P04062:p.Val437Phe chr1 152018621 152018624 VAR_010070 - P04062:p.Val437Leu chr1 152018618 152018621 VAR_003312 - P04062:p.Asp438Asn chr1 152018618 152018621 VAR_032413 - P04062:p.Asp438Tyr chr1 152018612 152018615 VAR_010071 - P04062:p.Pro440Leu chr1 152018609 152018612 VAR_032414 - P04062:p.Ile441Phe chr1 152018609 152018612 VAR_010072 - P04062:p.Ile441Thr chr1 152018588 152018591 VAR_003313 - P04062:p.Asp448His chr1 152018588 152018591 VAR_003314 - P04062:p.Asp448Val chr1 152018582 152018585 VAR_010073 - P04062:p.Phe450Ile chr1 152018579 152018582 VAR_003315 - P04062:p.Tyr451His chr1 152018576 152018579 VAR_010074 - P04062:p.Lys452Gln chr1 152018570 152018573 VAR_003316 - P04062:p.Pro454Arg chr1 152018567 152018570 VAR_032215 - P04062:p.Met455Val chr1 152018564 152018567 VAR_003317 - P04062:p.Phe456Val chr1 152018561 152018564 VAR_003318 - P04062:p.Tyr457Cys chr1 152018552 152018555 VAR_032415 - P04062:p.Gly460Asp chr1 152018171 152018174 VAR_003319 - P04062:p.Lys464Glu chr1 152018114 152018117 VAR_003321 - P04062:p.Leu483Pro chr1 152018114 152018117 VAR_003320 - P04062:p.Leu483Arg chr1 152018108 152018111 VAR_003322 - P04062:p.Ala485Pro chr1 152018093 152018096 VAR_032416 - P04062:p.His490Arg chr1 152018078 152018081 VAR_003323 - P04062:p.Ala495Pro chr1 152018063 152018066 VAR_032216 - P04062:p.Leu500Pro chr1 152018060 152018063 VAR_009049 - P04062:p.Asn501Lys chr1 152017942 152017945 VAR_003325 - P04062:p.Leu509Pro chr1 152017930 152017933 VAR_009050 - P04062:p.Asp513Tyr chr1 152017918 152017921 VAR_003326 - P04062:p.Gly517Ser chr1 152017879 152017882 VAR_010075 - P04062:p.Thr530Ile chr1 152017864 152017867 VAR_003327 - P04062:p.Arg535Cys chr1 152017864 152017867 VAR_003328 - P04062:p.Arg535His chr9 36239271 36239274 VAR_021771 - Q9Y223:p.Pro27Ser chr9 36239244 36239247 VAR_017945 - Q9Y223:p.Pro36Leu chr9 36236247 36236250 VAR_021772 - Q9Y223:p.His132Gln chr9 36236157 36236160 VAR_021773 - Q9Y223:p.Arg162Cys chr9 36236130 36236133 VAR_021774 - Q9Y223:p.Met171Val chr9 36236115 36236118 VAR_021775 - Q9Y223:p.Asp176Val chr9 36236112 36236115 VAR_021776 - Q9Y223:p.Arg177Cys chr9 36236043 36236046 VAR_017946 - Q9Y223:p.Ile200Phe chr9 36226949 36226952 VAR_021778 - Q9Y223:p.Val216Ala chr9 36226922 36226925 VAR_017947 - Q9Y223:p.Asp225Asn chr9 36226859 36226862 VAR_017948 - Q9Y223:p.Arg246Gln chr9 36226859 36226862 VAR_017949 - Q9Y223:p.Arg246Trp chr9 36224109 36224112 VAR_017950 - Q9Y223:p.Arg263Leu chr9 36224100 36224103 VAR_017951 - Q9Y223:p.Arg266Gln chr9 36224100 36224103 VAR_017952 - Q9Y223:p.Arg266Trp chr9 36223989 36223992 VAR_017953 - Q9Y223:p.Cys303Val chr9 36223980 36223983 VAR_021779 - Q9Y223:p.Arg306Gln chr9 36219094 36219097 VAR_021780 - Q9Y223:p.Val331Ala chr9 36217391 36217394 VAR_017954 - Q9Y223:p.Asp378Tyr chr9 36213400 36213403 VAR_017955 - Q9Y223:p.Ala460Val chr9 36212990 36212993 VAR_021781 - Q9Y223:p.Ile472Thr chr9 36212849 36212852 VAR_021782 - Q9Y223:p.Asn519Ser chr9 36212834 36212837 VAR_017956 - Q9Y223:p.Ala524Val chr9 36212822 36212825 VAR_017957 - Q9Y223:p.Phe528Cys chr9 36209979 36209982 VAR_017958 - Q9Y223:p.Ile557Thr chr9 36209934 36209937 VAR_017959 - Q9Y223:p.Val572Leu chr9 36209922 36209925 VAR_017960 - Q9Y223:p.Gly576Glu chr9 36209889 36209892 VAR_017961 - Q9Y223:p.Ile587Thr chr9 36209850 36209853 VAR_021783 - Q9Y223:p.Ala600Thr chr9 36208222 36208225 VAR_021784 - Q9Y223:p.Ala630Thr chr9 36208219 36208222 VAR_017962 - Q9Y223:p.Ala631Thr chr9 36208219 36208222 VAR_017963 - Q9Y223:p.Ala631Val chr9 36207505 36207508 VAR_017964 - Q9Y223:p.Tyr675His chr9 36207442 36207445 VAR_017965 - Q9Y223:p.Val696Met chr9 36207394 36207397 VAR_017966 - Q9Y223:p.Met712Thr chr3 52300145 52300148 VAR_032285 + Q8IVS8:p.Leu170Val chr3 52301789 52301792 VAR_032286 + Q8IVS8:p.Thr394Ile chr15 49462929 49462932 VAR_027039 + Q6ZMI3:p.Ser141Asn chr9 128357427 128357430 VAR_024056 + Q53GS7:p.Gly130Asp chr9 128357469 128357472 VAR_043874 + Q53GS7:p.Thr144Thr chr9 128365508 128365511 VAR_024057 + Q53GS7:p.Ile243Val chr9 128378245 128378248 VAR_043875 + Q53GS7:p.Arg569His chr9 128378308 128378311 VAR_024058 + Q53GS7:p.Arg590Gln chr9 128379890 128379893 VAR_043876 + Q53GS7:p.Val617Met chr9 128382955 128382958 VAR_043877 + Q53GS7:p.Ile684Thr chr3 81780817 81780820 VAR_022109 - Q04446:p.Arg190Gly chr3 81780715 81780718 VAR_022429 - Q04446:p.Leu224Pro chr3 81778243 81778246 VAR_022430 - Q04446:p.Phe257Leu chr3 81774818 81774821 VAR_034747 - Q04446:p.Thr265Ser chr3 81774626 81774629 VAR_022431 - Q04446:p.Tyr329Ser chr3 81709862 81709865 VAR_034749 - Q04446:p.Thr507Ala chr3 81709838 81709841 VAR_022432 - Q04446:p.Arg515Cys chr3 81709838 81709841 VAR_022433 - Q04446:p.Arg515His chr3 81709811 81709814 VAR_022434 - Q04446:p.Arg524Gln chr3 81668919 81668922 VAR_022435 - Q04446:p.His545Arg chr3 81667085 81667088 VAR_022436 - Q04446:p.His628Arg chr12 56145840 56145843 VAR_035557 + P08151:p.Pro210Ala chr12 56149711 56149714 VAR_035558 + P08151:p.Thr514Ile chr12 56151238 56151241 VAR_035559 + P08151:p.Glu817Gln chr12 56151439 56151442 VAR_015114 + P08151:p.Asp884Ala chr12 56151586 56151589 VAR_015115 + P08151:p.Gly933Asp chr12 56152087 56152090 VAR_015116 + P08151:p.Glu1100Gln chr1 53772125 53772128 VAR_033544 - Q8NBF1:p.Phe157Leu chr16 4327424 4327427 VAR_032256 + Q9BZE0:p.Thr492Ala chr1 92444031 92444034 VAR_017241 - Q92990:p.393del chr1 179085346 179085349 VAR_026560 - P15104:p.Arg324Cys chr1 179085295 179085298 VAR_026561 - P15104:p.Arg341Cys chr17 619888 619891 VAR_031128 - Q9HC38:p.Met282Ile chr17 9670168 9670171 VAR_033967 + O95838:p.His22Leu chr17 9733492 9733495 VAR_033968 + O95838:p.Asp470Asn chr17 9733651 9733654 VAR_033969 + O95838:p.Arg523His chr2 127130090 127130093 VAR_003193 + P04921:p.Asn8Ser chr2 127130108 127130111 VAR_003194 + P04921:p.Leu14Phe chr2 127164077 127164080 VAR_003195 + P04921:p.Ala23Ser chr2 127169930 127169933 VAR_021342 + P04921:p.Lys124Glu chrX 30473815 30473818 VAR_001374 + P32189:p.Ser185Asn chrX 30474421 30474424 VAR_001375 + P32189:p.Asn232His chrX 30485357 30485360 VAR_015433 + P32189:p.Asn288Asp chrX 30497281 30497284 VAR_001376 + P32189:p.Ala376Thr chrX 30498493 30498496 VAR_001377 + P32189:p.Asp440Val chrX 30501897 30501900 VAR_010138 + P32189:p.Trp503Arg chr21 42840289 42840292 VAR_017110 + P57057:p.Asp247Asn chr5 151211239 151211242 VAR_000296 - P23415:p.Ile272Asn chr5 151211221 151211224 VAR_010112 - P23415:p.Pro278Thr chr5 151211215 151211218 VAR_010113 - P23415:p.Arg280His chr5 151211173 151211176 VAR_000297 - P23415:p.Gln294His chr5 151211158 151211161 VAR_000298 - P23415:p.Arg299Leu chr5 151211158 151211161 VAR_000299 - P23415:p.Arg299Gln chr5 151211143 151211146 VAR_000300 - P23415:p.Lys304Glu chr5 151188812 151188815 VAR_000301 - P23415:p.Tyr307Cys chr5 151182516 151182519 VAR_010114 - P23415:p.Arg428His chr4 158417705 158417706 VAR_035070 + P48167:p.Gly251Asp chr4 158422563 158422565 VAR_035070 + P48167:p.Gly251Asp chr1 189798445 189798448 VAR_025234 - Q9NS18:p.Lys95Glu chr10 131824734 131824737 VAR_016875 + O76003:p.Gln21His chr10 131849139 131849142 VAR_016876 + O76003:p.Pro123Ser chr14 95080176 95080179 VAR_026125 + Q86SX6:p.Ala146Thr chr7 151237875 151237878 VAR_019589 + Q8NCW6:p.Pro151Ser chr7 151239979 151239982 VAR_019590 + Q8NCW6:p.Asp197Tyr chr3 16236423 16236426 VAR_019593 + Q8N3T1:p.His510Tyr chr17 18172818 18172821 VAR_022010 - P34896:p.Leu474Phe chrX 2771344 2771347 VAR_010401 + O15488:p.Ala270Val chrX 2772929 2772932 VAR_024457 + O15488:p.His313Arg chrX 2773109 2773112 VAR_031224 + O15488:p.Arg373Cys chr11 58361386 58361389 VAR_031296 - Q8WU03:p.Pro82Ser chr11 58358882 58358885 VAR_031297 - Q8WU03:p.Glu160Lys chr11 58358858 58358861 VAR_031298 - Q8WU03:p.Leu168Ile chr8 143919621 143919624 VAR_020174 + Q99445:p.Arg54Cys chr3 49735432 49735435 VAR_035372 - Q9Y5P6:p.His126Asp chr3 49735041 49735044 VAR_035373 - Q9Y5P6:p.Gln184Arg chr6 16398673 16398676 VAR_003969 + P36959:p.Ala234Thr chr6 16398739 16398742 VAR_003970 + P36959:p.Phe256Ile chr17 60441307 60441310 VAR_017160 - Q14344:p.Val221Leu chr20 56863020 56863023 VAR_028777 + Q5JWF2:p.Ala436Asp chr20 56863023 56863026 VAR_028778 + Q5JWF2:p.Ala437Ala chr20 56863089 56863092 VAR_028779 + Q5JWF2:p.Pro459Arg chr20 56919234 56919237 VAR_034744 + P63092:p.382del chr3 50205574 50205577 VAR_009279 + P11488:p.Gly38Asp chr1 109861012 109861015 VAR_014783 - P19087:p.Gly183Asp chr22 18164092 18164095 VAR_024698 - Q9BYB4:p.Trp239Gly chr22 18150881 18150884 VAR_035882 - Q9BYB4:p.Ala296Thr chr9 133011614 133011617 VAR_035822 - Q12967:p.Arg496Leu chr2 85836385 85836388 VAR_027868 + P22749:p.Thr119Ile chr6 43036630 43036633 VAR_012766 + Q14749:p.Leu50Pro chr6 43038563 43038566 VAR_019840 + Q14749:p.Asn141Ser chr6 43038864 43038867 VAR_012767 + Q14749:p.His177Asn chr1 227707835 227707838 VAR_006357 + O15228:p.Arg211Cys chr1 227707835 227707838 VAR_006358 + O15228:p.Arg211His chr1 227713441 227713444 VAR_030696 + O15228:p.Val495Ile chr1 227714824 227714827 VAR_025897 + O15228:p.Asp519Gly chr1 227717713 227717716 VAR_030697 + O15228:p.Tyr586His chr12 100726909 100726912 VAR_027509 - Q3T906:p.Lys4Gln chr12 100666720 100666723 VAR_027510 - Q3T906:p.Ile348Leu chr12 100666329 100666332 VAR_025416 - Q3T906:p.Asp407Ala chr12 100661176 100661179 VAR_025417 - Q3T906:p.Ala662Gly chr12 100643472 100643475 VAR_027511 - Q3T906:p.Lys1236Met chr4 68448789 68448792 VAR_019311 - P30968:p.Asn10Lys chr4 68448549 68448552 VAR_019312 - P30968:p.Glu90Lys chr4 68448501 68448504 VAR_019313 - P30968:p.Gln106Arg chr4 68448432 68448435 VAR_019314 - P30968:p.Ala129Asp chr4 68448402 68448405 VAR_019315 - P30968:p.Arg139His chr4 68448315 68448318 VAR_019316 - P30968:p.Ser168Arg chr4 68448306 68448309 VAR_019317 - P30968:p.Ala171Thr chr4 68439142 68439145 VAR_019318 - P30968:p.Ser217Arg chr4 68435164 68435167 VAR_019319 - P30968:p.Arg262Gln chr4 68435098 68435101 VAR_019320 - P30968:p.Tyr284Cys chr1 166077524 166077527 VAR_028142 + Q9H2G9:p.Gln40Arg chr1 166079342 166079345 VAR_028143 + Q9H2G9:p.Arg196Gln chr9 128099289 128099292 VAR_033974 - Q08379:p.Arg890Gly chr12 132003671 132003674 VAR_020153 - Q08378:p.Gly70Glu chr12 131995212 131995215 VAR_021901 - Q08378:p.Pro264Leu chr12 131967760 131967763 VAR_020154 - Q08378:p.Lys1185Arg chr3 37341462 37341465 VAR_033975 + Q13439:p.Gln1028Lys chr3 37343034 37343037 VAR_033976 + Q13439:p.Asn1552Ser chr3 122918502 122918505 VAR_036096 - Q14789:p.Gln348His chr3 122899311 122899314 VAR_020155 - Q14789:p.Thr911Ser chr3 122899212 122899215 VAR_036097 - Q14789:p.Ala944Gly chr3 122898408 122898411 VAR_020156 - Q14789:p.Tyr1212Cys chr3 122898297 122898300 VAR_031671 - Q14789:p.Pro1249Ser chr3 122896905 122896908 VAR_031672 - Q14789:p.Cys1713Phe chr3 122896749 122896752 VAR_031673 - Q14789:p.Gly1765Asp chr3 169233249 169233252 VAR_036611 - O00461:p.Ala312Val chr8 25336715 25336718 VAR_013943 - P01148:p.Trp16Ser chr1 152548082 152548085 VAR_024320 - Q3T8J9:p.Met1418Val chr17 42363567 42363570 VAR_024471 + O14653:p.Arg67Lys chr9 129928252 129928255 VAR_030863 + Q5VW38:p.Ala189Pro chr6 47754799 47754802 VAR_024473 + Q8IZF7:p.Gln148Arg chr6 47757652 47757655 VAR_024474 + Q8IZF7:p.Ile467Val chr2 26448342 26448345 VAR_024475 - Q8IZF5:p.Ala404Thr chrX 129244029 129244032 VAR_037221 - Q8TDV5:p.Ser309Leu chr4 22066433 22066436 VAR_033971 - Q8IWK6:p.Val1043Met chr4 22066064 22066067 VAR_033972 - Q8IWK6:p.Val1166Gly chr14 59001682 59001685 VAR_024259 - Q8IZ08:p.Gln5Pro chrX 9519188 9519191 VAR_005519 - P51810:p.290del chr1 6248202 6248205 VAR_023741 - Q6NV75:p.Arg209His chr1 68315604 68315607 VAR_029991 - Q5T9L3:p.Val465Ile chr13 94052275 94052278 VAR_035925 + Q86V85:p.Thr32Asn chr12 55676304 55676307 VAR_033464 + O15218:p.Cys349Arg chr17 4776892 4776895 VAR_011909 + P07359:p.Arg72His chr17 4776895 4776898 VAR_014206 + P07359:p.Leu73Phe chr17 4776919 4776922 VAR_005256 + P07359:p.Cys81Arg chr17 4776934 4776937 VAR_013511 + P07359:p.Leu86Phe chr17 4777111 4777114 VAR_014207 + P07359:p.Leu145Pro chr17 4777159 4777162 VAR_005257 + P07359:p.Thr161Met chr17 4777192 4777195 VAR_005258 + P07359:p.Ala172Val chr17 4777261 4777264 VAR_005259 + P07359:p.195del chr17 4777351 4777354 VAR_005260 + P07359:p.Cys225Ser chr17 4777423 4777426 VAR_019657 + P07359:p.Gly249Ser chr17 4777423 4777426 VAR_005261 + P07359:p.Gly249Val chr17 4777438 4777441 VAR_011910 + P07359:p.Ala254Ser chr17 4777441 4777444 VAR_005262 + P07359:p.Met255Val chr22 18086256 18086259 VAR_025000 + P13224:p.Tyr113Cys chr22 18086316 18086319 VAR_025001 + P13224:p.Ala133Pro chr1 163774417 163774420 VAR_020079 - Q99795:p.Asp20Asn chr2 241124147 241124150 VAR_036044 + P35052:p.Ala337Asp chr7 99417893 99417896 VAR_036045 - Q8N158:p.Asp200Asn chrX 132613172 132613175 VAR_021385 - P51654:p.Trp296Arg chrX 132164391 132164394 VAR_016191 - O75487:p.Glu391Asp chrX 132162855 132162858 VAR_016192 - O75487:p.Ala442Val chr12 12994531 12994534 VAR_018297 - Q9NZD1:p.Ala18Asp chr13 91143578 91143581 VAR_024228 + P78333:p.Ala155Val chr6 117237394 117237397 VAR_023966 - Q5T6X5:p.Pro91Ser chr13 93832749 93832752 VAR_024229 + Q9Y625:p.Val412Met chr3 32155103 32155106 VAR_044044 + Q8N335:p.Glu83Lys chr3 32156726 32156729 VAR_044045 + Q8N335:p.Ile124Val chr3 32163143 32163146 VAR_032114 + Q8N335:p.Leu178Phe chr3 32175569 32175572 VAR_044046 + Q8N335:p.Arg273Cys chr3 32175590 32175593 VAR_044047 + Q8N335:p.Ala280Val chr12 48784741 48784744 VAR_029492 + P21695:p.Ile54Val chr12 48785714 48785717 VAR_029493 + P21695:p.Ala113Pro chr7 904650 904653 VAR_033319 + Q99527:p.Pro16Leu chr3 130263298 130263301 VAR_024996 + P14770:p.Leu7Pro chr3 130263349 130263352 VAR_024997 + P14770:p.Cys24Arg chr3 130263388 130263391 VAR_005263 + P14770:p.Asp37Gly chr3 130263445 130263448 VAR_024998 + P14770:p.Leu56Pro chr3 130263460 130263463 VAR_005264 + P14770:p.Asn61Ser chr3 130263490 130263493 VAR_024999 + P14770:p.Phe71Ser chr3 130263616 130263619 VAR_025008 + P14770:p.Cys113Tyr chr3 130263745 130263748 VAR_025009 + P14770:p.Ala156Thr chr7 23067131 23067134 VAR_036262 + Q14956:p.Ala110Asp chr7 23072879 23072882 VAR_012076 + Q14956:p.Ser195Cys chr7 23072885 23072888 VAR_012077 + Q14956:p.Asn197His chr7 23086954 23086957 VAR_036263 + Q14956:p.Ser531Ile chr3 99733675 99733678 VAR_020075 + P49685:p.Pro37Ser chr2 206866556 206866559 VAR_023839 - P46091:p.Ile307Val chr19 55966647 55966650 VAR_011860 + O75388:p.Phe327Leu chr2 241289431 241289434 VAR_013601 + Q9HC97:p.Ala25Thr chr2 241289443 241289446 VAR_013602 + Q9HC97:p.Val29Ile chr2 241289584 241289587 VAR_033467 + Q9HC97:p.Val76Met chr2 241289680 241289683 VAR_013603 + Q9HC97:p.Thr108Met chr2 241289731 241289734 VAR_013604 + Q9HC97:p.Arg125Ser chr2 241290115 241290118 VAR_013605 + Q9HC97:p.Thr253Met chr2 241290238 241290241 VAR_013606 + Q9HC97:p.Ser294Arg chr2 133008494 133008497 VAR_022067 + O43194:p.Ala50Val chr1 27405107 27405110 VAR_011859 + P46089:p.Arg222His chr19 40554233 40554236 VAR_033468 + O15529:p.Cys45Arg chr19 40554779 40554782 VAR_033469 + O15529:p.Val227Leu chr19 40554866 40554869 VAR_033470 + O15529:p.Val256Ala chr2 105316851 105316854 VAR_035759 + Q9Y5Y3:p.Ser7Cys chr2 231600597 231600600 VAR_024257 - Q9Y2T6:p.Gly195Val chr16 56242659 56242662 VAR_026242 + Q9Y653:p.Arg38Trp chr16 56242809 56242812 VAR_026243 + Q9Y653:p.Tyr88Cys chr16 56242818 56242821 VAR_026244 + Q9Y653:p.Cys91Ser chr16 56246883 56246886 VAR_017910 + Q9Y653:p.Ser281Arg chr16 56247303 56247306 VAR_017911 + Q9Y653:p.Gln306His chr16 56247656 56247659 VAR_026245 + Q9Y653:p.Cys346Ser chr2 53993196 53993199 VAR_033471 - O95800:p.Ala116Thr chr2 53993064 53993067 VAR_033472 - O95800:p.Cys160Gly chr2 53992245 53992248 VAR_033473 - O95800:p.Leu433Val chr4 8701380 8701383 VAR_024258 + Q96P69:p.Arg201Ser chr4 8707056 8707059 VAR_033474 + Q96P69:p.Ala330Thr chr4 8707092 8707095 VAR_033475 + Q96P69:p.Arg342His chr12 121739637 121739640 VAR_025151 - Q9BXC0:p.His43Gln chr12 121739007 121739010 VAR_025152 - Q9BXC0:p.Asp253Glu chr5 89950679 89950682 VAR_025995 + Q8WXG9:p.Leu127Arg chr5 89958855 89958858 VAR_025996 + Q8WXG9:p.Arg249Lys chr5 89979324 89979327 VAR_025997 + Q8WXG9:p.Leu1093Phe chr5 90015272 90015275 VAR_025998 + Q8WXG9:p.Thr1927Met chr5 90015344 90015347 VAR_025999 + Q8WXG9:p.Val1951Ile chr5 90015446 90015449 VAR_026000 + Q8WXG9:p.Asn1985Asp chr5 90015452 90015455 VAR_026001 + Q8WXG9:p.Pro1987Leu chr5 90015503 90015506 VAR_026002 + Q8WXG9:p.Leu2004Phe chr5 90021636 90021639 VAR_026003 + Q8WXG9:p.Tyr2232Cys chr5 90024258 90024261 VAR_026004 + Q8WXG9:p.Asn2345Ser chr5 90025463 90025466 VAR_026005 + Q8WXG9:p.Gly2379Ala chr5 90026078 90026081 VAR_026006 + Q8WXG9:p.Asn2584Ser chr5 90035964 90035967 VAR_026007 + Q8WXG9:p.Ser2764Leu chr5 90036992 90036995 VAR_026008 + Q8WXG9:p.Ala2803Thr chr5 90052532 90052535 VAR_026009 + Q8WXG9:p.Ala3217Val chr5 90052625 90052628 VAR_026010 + Q8WXG9:p.Gly3248Asp chr5 90060490 90060493 VAR_026011 + Q8WXG9:p.Glu3471Lys chr5 90142862 90142865 VAR_026012 + Q8WXG9:p.Glu5344Gly chr5 90155112 90155115 VAR_026013 + Q8WXG9:p.Thr5438Ala chr17 7156864 7156867 VAR_021972 - Q13227:p.Thr306Ala chr19 38292602 38292605 VAR_032303 + Q9BRR8:p.Leu476Pro chr19 38297138 38297141 VAR_032304 + Q9BRR8:p.His724Arg chr19 38297150 38297153 VAR_032305 + Q9BRR8:p.Leu728Ser chr19 38309438 38309441 VAR_032306 + Q9BRR8:p.Glu909Lys chr11 118477548 118477551 VAR_036422 - Q9H3H5:p.Met9Ile chr11 118476314 118476317 VAR_017243 - Q9H3H5:p.Tyr170Cys chr11 118472965 118472968 VAR_011391 - Q9H3H5:p.Ile393Val chr6 28607544 28607547 VAR_012040 + O75715:p.Leu85Val chr14 24170119 24170122 VAR_018381 - P10144:p.Tyr247His chr14 24146744 24146747 VAR_014556 - P20718:p.Arg84Gln chr22 38691549 38691552 VAR_012079 + O75791:p.Leu319Phe chr2 10052064 10052067 VAR_025663 + Q9NZI5:p.Asn191Ser chr2 10076927 10076930 VAR_025664 + Q9NZI5:p.Val397Ile chr9 37419742 37419745 VAR_032762 + Q9UBQ7:p.Arg170Gln chr4 158615478 158615481 VAR_000303 + P42262:p.Gln607Arg chr4 158615481 158615484 VAR_037055 + P42262:p.Gln608Arg chrX 122264147 122264150 VAR_043484 + P42263:p.Arg450Gln chrX 122276859 122276862 VAR_023579 + P42263:p.Phe525Leu chrX 122287339 122287342 VAR_043485 + P42263:p.Arg631Ser chrX 122324289 122324292 VAR_043486 + P42263:p.Met706Thr chrX 122342241 122342244 VAR_043487 + P42263:p.Gly833Arg chr10 87474359 87474362 VAR_022011 - Q9ULK0:p.Val529Ile chr4 94389171 94389174 VAR_035697 + O43424:p.Thr209Asn chr21 29937118 29937121 VAR_012751 - P39086:p.Ala332Val chr21 29875619 29875622 VAR_000304 - P39086:p.Gln636Arg chr21 29855900 29855903 VAR_012041 - P39086:p.Ile757Val chr21 29849264 29849267 VAR_012752 - P39086:p.Arg862Gln chr21 29847893 29847896 VAR_012042 - P39086:p.Ala870Val chr21 29847797 29847800 VAR_012043 - P39086:p.Leu902Ser chr6 102231207 102231210 VAR_035694 + Q13002:p.Glu187Gln chr6 102444381 102444384 VAR_000305 + Q13002:p.Ile567Val chr6 102444393 102444396 VAR_000306 + Q13002:p.Tyr571Cys chr6 102479280 102479283 VAR_000307 + Q13002:p.Gln621Arg chr6 102622950 102622953 VAR_037633 + Q13002:p.Met867Ile chr8 145137697 145137700 VAR_037875 + Q7Z429:p.Ser107Asn chr14 35222925 35222928 VAR_019804 - Q6GYQ0:p.Thr931Ala chr3 115146955 115146958 VAR_032302 + Q8IYS0:p.Leu644Pro chr6 146392445 146392448 VAR_028184 + Q13255:p.Ser34Tyr chr6 146522328 146522331 VAR_028185 + Q13255:p.Arg285Lys chr6 146761953 146761956 VAR_036194 + Q13255:p.Arg696Trp chr6 146762088 146762091 VAR_028186 + Q13255:p.Glu741Asp chr6 146762517 146762520 VAR_028187 + Q13255:p.Gly884Glu chr6 146796824 146796827 VAR_024482 + Q13255:p.Val929Ile chr5 178354101 178354104 VAR_030756 - O15303:p.Gly150Ser chr5 178351621 178351624 VAR_036195 - O15303:p.Ser191Phe chr5 178342609 178342612 VAR_030757 - O15303:p.Glu781Lys chr3 7469415 7469418 VAR_003584 + Q14831:p.Tyr433Phe chr7 126477179 126477182 VAR_014446 - O00222:p.Ser10Cys chr7 126477146 126477149 VAR_014447 - O00222:p.Phe21Cys chr7 126004050 126004053 VAR_014448 - O00222:p.Arg392Gln chr7 125767742 125767745 VAR_014449 - O00222:p.Val548Gly chr17 39785363 39785366 VAR_014830 + P28799:p.Gly515Ala chr19 43603404 43603407 VAR_038145 - Q8TDF6:p.Gln120Leu chr19 43602684 43602687 VAR_038146 - Q8TDF6:p.Val145Ala chr9 125078760 125078763 VAR_025815 - P11021:p.Asn543His chr22 17512209 17512212 VAR_008549 - O15499:p.Arg47Cys chr19 52940673 52940676 VAR_024456 + Q9NZM5:p.Ser16Arg chr19 52950527 52950530 VAR_011486 + Q9NZM5:p.Gln389Arg chr17 35375517 35375520 VAR_035010 + Q96QA5:p.Arg18Gln chr17 35376211 35376214 VAR_035012 + Q96QA5:p.Glu130Lys chr16 84252490 84252493 VAR_035926 + Q14687:p.Arg627Trp chr16 84257129 84257132 VAR_029546 + Q14687:p.Val936Ala chr16 84262142 84262145 VAR_029547 + Q14687:p.Arg1153Gln chr1 94072218 94072221 VAR_021063 - P48507:p.Ile209Met chr6 53495269 53495272 VAR_014884 - P48506:p.Leu55Ser chr6 53493599 53493602 VAR_021110 - P48506:p.Arg127Cys chr6 53488951 53488954 VAR_015403 - P48506:p.Pro158Leu chr6 53479756 53479759 VAR_013514 - P48506:p.His370Leu chr6 53478157 53478160 VAR_021100 - P48506:p.Pro462Ser chr20 33003238 33003241 VAR_003602 - P48637:p.Ala26Asp chr20 32993220 32993223 VAR_003603 - P48637:p.Leu188Pro chr20 32988438 32988441 VAR_003604 - P48637:p.Asp219Ala chr20 32988438 32988441 VAR_003605 - P48637:p.Asp219Gly chr20 32988285 32988288 VAR_025047 - P48637:p.Arg236Gln chr20 32988231 32988234 VAR_003606 - P48637:p.Leu254Arg chr20 32987072 32987075 VAR_003607 - P48637:p.Arg267Trp chr20 32987063 32987066 VAR_003608 - P48637:p.Tyr270Cys chr20 32987063 32987066 VAR_003609 - P48637:p.Tyr270His chr20 32983582 32983585 VAR_003610 - P48637:p.Arg283Cys chr20 32983573 32983576 VAR_003611 - P48637:p.Leu286Gln chr20 32983441 32983444 VAR_003612 - P48637:p.Arg330Cys chr20 32980405 32980408 VAR_025048 - P48637:p.Lys437Glu chr20 32980324 32980327 VAR_003613 - P48637:p.Gly464Val chr20 32980309 32980312 VAR_003614 - P48637:p.Asp469Glu chr8 30685163 30685166 VAR_019079 - P00390:p.Arg153Cys chr8 30673450 30673453 VAR_019081 - P00390:p.Ile261Val chr8 30666369 30666372 VAR_019082 - P00390:p.Glu297Asp chr8 30666318 30666321 VAR_014554 - P00390:p.Pro314His chr6 52771967 52771970 VAR_033978 - P08263:p.Thr19Ile chr6 52725694 52725697 VAR_014495 - P09210:p.Pro110Ser chr6 52725688 52725691 VAR_012205 - P09210:p.Ser112Thr chr6 52724432 52724435 VAR_014496 - P09210:p.Val149Ala chr6 52723372 52723375 VAR_012206 - P09210:p.Glu210Ala chr6 52957334 52957337 VAR_022210 - O15217:p.Leu100Pro chr6 52955387 52955390 VAR_022211 - O15217:p.Thr163Ala chr6 52809099 52809102 VAR_024483 - Q7RTV2:p.Val55Ile chr1 109945177 109945180 VAR_003617 + P09488:p.Lys173Asn chr1 109947929 109947932 VAR_014497 + P09488:p.Ser210Thr chr1 109991740 109991743 VAR_014498 - P21266:p.Val224Ile chr1 109911056 109911059 VAR_033979 + Q03013:p.Ser2Pro chr1 109913684 109913687 VAR_033980 + Q03013:p.Ala160Val chr10 106009435 106009438 VAR_029269 + P78417:p.Ser86Cys chr10 106012777 106012780 VAR_016811 + P78417:p.Ala140Asp chr10 106012822 106012825 VAR_016813 + P78417:p.155del chr10 106017048 106017051 VAR_024484 + P78417:p.Glu208Lys chr10 106017132 106017135 VAR_026583 + P78417:p.Ala236Val chr10 106029174 106029177 VAR_016812 + Q9H4Y5:p.Asn142Asp chr22 22708722 22708725 VAR_014501 - P30711:p.Ala21Thr chr22 22701480 22701483 VAR_014502 - P30711:p.Asp141Asn chr22 22701396 22701399 VAR_014503 - P30711:p.Val169Ile chr22 22701384 22701387 VAR_014504 - P30711:p.Glu173Lys chr22 22649678 22649681 VAR_033982 + P30712:p.Met139Ile chr7 73414191 73414194 VAR_013446 + Q9UHL9:p.Met652Val chr2 144733290 144733293 VAR_037136 - Q4AE62:p.Met137Ile chr20 60202009 60202012 VAR_033983 + Q9H4K7:p.Gly47Ser chr20 44787322 44787325 VAR_029535 + O95528:p.Ser81Arg chr20 44787397 44787400 VAR_029536 + O95528:p.Ala106Ser chr20 44787475 44787478 VAR_042417 + O95528:p.Arg132Trp chr20 44787505 44787508 VAR_042418 + O95528:p.Gly142Val chr20 44787697 44787700 VAR_029335 + O95528:p.Ala206Thr chr20 44787754 44787757 VAR_042419 + O95528:p.Arg225His chr20 44787772 44787775 VAR_042420 + O95528:p.Arg231Gln chr20 44787817 44787820 VAR_042421 + O95528:p.Gly246Glu chr20 44788357 44788360 VAR_042422 + O95528:p.Gly426Trp chr20 44788929 44788932 VAR_042423 + O95528:p.Glu437Lys chr20 44788953 44788956 VAR_042424 + O95528:p.Gly445Glu chr20 44795805 44795808 VAR_024652 + O95528:p.Thr518Ala chr20 44795862 44795865 VAR_029537 + O95528:p.Ile537Val chr3 172215126 172215129 VAR_007169 - P11168:p.Pro68Leu chr3 172215027 172215030 VAR_014718 - P11168:p.Val101Ile chr3 172215000 172215003 VAR_014719 - P11168:p.Thr110Ile chr3 172207659 172207662 VAR_018650 - P11168:p.Val197Ile chr3 172199558 172199561 VAR_018651 - P11168:p.Leu389Pro chr3 172198806 172198809 VAR_018652 - P11168:p.Pro417Leu chr3 172198788 172198791 VAR_018653 - P11168:p.Val423Glu chr3 172198534 172198537 VAR_014720 - P11168:p.Leu478Val chr17 7127596 7127599 VAR_012060 + P14672:p.Thr78Ser chr17 7129181 7129184 VAR_020336 + P14672:p.Ala358Val chr17 7129771 7129774 VAR_007170 + P14672:p.Val383Ile chr17 7129777 7129780 VAR_007171 + P14672:p.Ile385Thr chr22 45025194 45025197 VAR_032816 + Q9NYZ3:p.Thr181Ala chr22 45025251 45025254 VAR_032817 + Q9NYZ3:p.Ala200Val chr22 45028670 45028673 VAR_032818 + Q9NYZ3:p.Ala274Thr chr22 45030398 45030401 VAR_032819 + Q9NYZ3:p.Ser322Asn chr22 45039616 45039619 VAR_032820 + Q9NYZ3:p.Asp463Glu chr22 45039637 45039640 VAR_021973 + Q9NYZ3:p.Ser470Leu chr22 45045806 45045809 VAR_032821 + Q9NYZ3:p.Ala635Thr chr6 42249476 42249479 VAR_010648 + P43080:p.Pro50Leu chr6 42254088 42254091 VAR_001372 + P43080:p.Tyr99Cys chr6 42254975 42254978 VAR_012987 + P43080:p.Glu155Gly chr6 42261405 42261408 VAR_009127 - Q9UMX6:p.Glu155Asp chr17 7847243 7847246 VAR_003435 + Q02846:p.Ala52Ser chr17 7847402 7847405 VAR_023770 + Q02846:p.Cys105Tyr chr17 7848145 7848148 VAR_023771 + Q02846:p.Leu325Pro chr17 7848154 7848157 VAR_042229 + Q02846:p.Ala328Val chr17 7850462 7850465 VAR_009129 + Q02846:p.Ala362Ser chr17 7850669 7850672 VAR_042230 + Q02846:p.Gly431Asp chr17 7851523 7851526 VAR_042231 + Q02846:p.Val507Met chr17 7853572 7853575 VAR_009131 + Q02846:p.Phe565Ser chr17 7853596 7853599 VAR_009130 + Q02846:p.Ile573Val chr17 7856612 7856615 VAR_042232 + Q02846:p.Ala693Glu chr17 7856636 7856639 VAR_009132 + Q02846:p.Pro701Ser chr17 7858002 7858005 VAR_009133 + Q02846:p.Leu782His chr17 7858739 7858748 VAR_003438 + Q02846:p.Glu837_Thr839delinsAspCysMet chr17 7858739 7858742 VAR_003436 + Q02846:p.Glu837Asp chr17 7858742 7858745 VAR_003437 + Q02846:p.Arg838Cys chr17 7858742 7858745 VAR_015373 + Q02846:p.Arg838His chr17 7858802 7858805 VAR_009134 + Q02846:p.Pro858Ser chr17 7859460 7859463 VAR_009135 + Q02846:p.Leu954Pro chrX 108525280 108525283 VAR_036419 - P51841:p.Arg10Pro chrX 108525190 108525193 VAR_042233 - P51841:p.Ser40Cys chrX 108524830 108524833 VAR_042234 - P51841:p.Ile160Asn chrX 108524620 108524623 VAR_042235 - P51841:p.Arg230Trp chrX 108514695 108514698 VAR_009136 - P51841:p.Leu284Pro chrX 108514632 108514635 VAR_042236 - P51841:p.Arg305Gln chrX 108514623 108514626 VAR_030633 - P51841:p.Tyr308Cys chrX 108503125 108503128 VAR_030634 - P51841:p.Gln380His chrX 108502963 108502966 VAR_042237 - P51841:p.Gly434Arg chrX 108479767 108479770 VAR_042238 - P51841:p.Gly568Asp chrX 108458449 108458452 VAR_030635 - P51841:p.Arg628Gln chrX 108453795 108453798 VAR_042239 - P51841:p.Val677Leu chrX 108444756 108444759 VAR_042240 - P51841:p.Glu794Lys chrX 108434582 108434585 VAR_042241 - P51841:p.Ala1010Val chrX 108425535 108425538 VAR_042242 - P51841:p.Lys1052Arg chrX 108425526 108425529 VAR_042243 - P51841:p.Glu1055Asp chr4 44523391 44523394 VAR_028895 + Q8N442:p.Leu58Pro chr4 44530997 44531000 VAR_028896 + Q8N442:p.Thr329Ile chr19 54182430 54182433 VAR_037958 - P13807:p.Ile108Met chr19 54182364 54182367 VAR_014727 - P13807:p.Lys130Glu chr19 54177880 54177883 VAR_014728 - P13807:p.Asn283Ser chr19 54176690 54176693 VAR_014729 - P13807:p.Glu359Gly chr19 54173052 54173055 VAR_014730 - P13807:p.Met416Val chr19 54169718 54169721 VAR_007859 - P13807:p.Gly464Ser chr19 54164876 54164879 VAR_014731 - P13807:p.Glu619Gln chr19 54164497 54164500 VAR_014732 - P13807:p.Pro691Ala chr20 23293842 23293845 VAR_024212 + Q9H116:p.Gln275Pro chr6 26164581 26164584 VAR_003618 - P16403:p.Ala18Val chr6 26264978 26264981 VAR_036203 + P10412:p.Ala128Val chr6 27943028 27943031 VAR_036204 - P16401:p.Gly86Asp chr2 20746123 20746126 VAR_037741 - Q53T59:p.Val260Met chr2 20745384 20745387 VAR_037742 - Q53T59:p.Gly273Arg chr2 20740509 20740512 VAR_037743 - Q53T59:p.Pro348Arg chr2 20740389 20740392 VAR_037744 - Q53T59:p.Ala388Thr chr1 146672380 146672383 VAR_035802 - Q8IUE6:p.Ala53Thr chr6 27891127 27891130 VAR_036205 + Q99879:p.His110Tyr chr1 146617510 146617513 VAR_036206 + P62805:p.Glu64Gln chr13 96282829 96282832 VAR_028159 + Q8IZP7:p.Lys265Arg chr6 32713234 32713237 VAR_033414 + P01907:p.Leu8Met chr6 32713243 32713246 VAR_033415 + P01907:p.Ala11Thr chr6 32713261 32713264 VAR_033416 + P01907:p.Val17Met chr6 32713264 32713267 VAR_033417 + P01907:p.Met18Thr chr6 32713285 32713288 VAR_033418 + P01907:p.Asp25Gly chr6 32717081 32717084 VAR_033419 + P01907:p.Cys34Tyr chr6 32717102 32717105 VAR_033420 + P01907:p.Phe41Ser chr6 32717123 32717126 VAR_033421 + P01907:p.Tyr48Phe chr6 32717126 32717129 VAR_033422 + P01907:p.Thr49Ser chr6 32717150 32717153 VAR_033423 + P01907:p.Gln57Glu chr6 32717189 32717192 VAR_033424 + P01907:p.Arg70Gln chr6 32717782 32717785 VAR_033425 + P01907:p.Thr130Ile chr6 32717848 32717851 VAR_033426 + P01907:p.Gln152His chr6 32718378 32718381 VAR_033427 + P01907:p.Ala210Thr chr6 32718438 32718441 VAR_033428 + P01907:p.Met230Val chr6 32718462 32718465 VAR_033429 + P01907:p.Phe238Leu chr6 32718471 32718474 VAR_033430 + P01907:p.Gln241Arg chr6 32822059 32822062 VAR_033431 + P01906:p.Val227Ala chr10 115325689 115325692 VAR_023399 + Q14520:p.Val90Ile chr10 115333046 115333049 VAR_023400 + Q14520:p.Glu393Gln chr10 115338034 115338037 VAR_023401 + Q14520:p.Gly534Glu chr6 105414159 105414162 VAR_031180 - Q8IYU2:p.Arg17His chr6 105339839 105339842 VAR_031181 - Q8IYU2:p.Ile374Thr chr8 22040888 22040891 VAR_027806 - O43593:p.Gly337Asp chr8 22037161 22037164 VAR_005265 - O43593:p.Arg620Gln chr8 22037122 22037125 VAR_035927 - O43593:p.Arg633Gln chr8 22033803 22033806 VAR_027807 - O43593:p.Pro924Leu chr8 22032682 22032685 VAR_016222 - O43593:p.Asp1012Asn chr8 22032652 22032655 VAR_005266 - O43593:p.Thr1022Ala chr8 22029856 22029859 VAR_005267 - O43593:p.Val1136Asp chr17 3574203 3574206 VAR_040540 + Q8TF76:p.Val76Glu chr17 3574410 3574413 VAR_040542 + Q8TF76:p.Arg145His chr17 3574824 3574827 VAR_040543 + Q8TF76:p.Gly283Ser chr17 3574878 3574881 VAR_040544 + Q8TF76:p.Gln301Leu chr17 3575241 3575244 VAR_027408 + Q8TF76:p.Asn422Asp chr17 3576093 3576096 VAR_040545 + Q8TF76:p.Met706Val chr2 172666727 172666730 VAR_035997 + O14929:p.Ala317Pro chr6 32834764 32834767 VAR_008115 - P01918:p.Asp167Gly chr6 33156434 33156437 VAR_033432 + P04440:p.Leu37Val chr6 33156437 33156440 VAR_033433 + P04440:p.Phe38Tyr chr6 33156443 33156446 VAR_033434 + P04440:p.Gly40Val chr6 33156509 33156512 VAR_033435 + P04440:p.Glu62Gln chr6 33156515 33156518 VAR_033436 + P04440:p.Phe64Tyr chr6 33156518 33156521 VAR_033437 + P04440:p.Ala65Val chr6 33156578 33156581 VAR_033438 + P04440:p.Ala85Glu chr6 33156581 33156584 VAR_033439 + P04440:p.Glu86Asp chr6 33156617 33156620 VAR_033440 + P04440:p.Lys98Glu chr6 33156617 33156620 VAR_033441 + P04440:p.Lys98Arg chr6 33156638 33156641 VAR_033443 + P04440:p.Met105Ile chr6 33156638 33156641 VAR_033442 + P04440:p.Met105Val chr6 33156665 33156668 VAR_033444 + P04440:p.Gly114Glu chr6 33156668 33156671 VAR_033445 + P04440:p.Pro115Ala chr6 33156671 33156674 VAR_033446 + P04440:p.Met116Val chr6 33160958 33160961 VAR_033447 + P04440:p.Leu207Met chr6 33161616 33161619 VAR_033448 + P04440:p.Ile244Thr chr3 123979315 123979318 VAR_031703 - Q96EW2:p.Ser64Ala chr16 162914 162917 VAR_002719 + P69905:p.Val2Glu chr16 162917 162920 VAR_002720 + P69905:p.Leu3Arg chr16 162926 162929 VAR_002721 + P69905:p.Ala6Asp chr16 162926 162929 VAR_002722 + P69905:p.Ala6Pro chr16 162929 162932 VAR_002723 + P69905:p.Asp7Ala chr16 162929 162932 VAR_002724 + P69905:p.Asp7Gly chr16 162929 162932 VAR_002725 + P69905:p.Asp7Asn chr16 162929 162932 VAR_002726 + P69905:p.Asp7Val chr16 162929 162932 VAR_002727 + P69905:p.Asp7Tyr chr16 162932 162935 VAR_002728 + P69905:p.Lys8Glu chr16 162938 162941 VAR_038149 + P69905:p.Asn10Thr chr16 162941 162944 VAR_014605 + P69905:p.Val11Phe chr16 162944 162947 VAR_002729 + P69905:p.Lys12Glu chr16 162947 162950 VAR_002730 + P69905:p.Ala13Asp chr16 162950 162953 VAR_038150 + P69905:p.Ala14Pro chr16 162953 162956 VAR_002731 + P69905:p.Trp15Arg chr16 162956 162959 VAR_002732 + P69905:p.Gly16Arg chr16 162959 162962 VAR_002733 + P69905:p.Lys17Met chr16 162959 162962 VAR_002734 + P69905:p.Lys17Asn chr16 162965 162968 VAR_002735 + P69905:p.Gly19Asp chr16 162965 162968 VAR_002736 + P69905:p.Gly19Arg chr16 162968 162971 VAR_002737 + P69905:p.Ala20Asp chr16 162968 162971 VAR_002738 + P69905:p.Ala20Glu chr16 162971 162974 VAR_002739 + P69905:p.His21Gln chr16 162971 162974 VAR_002740 + P69905:p.His21Arg chr16 162974 162977 VAR_002741 + P69905:p.Ala22Asp chr16 162974 162977 VAR_002742 + P69905:p.Ala22Pro chr16 162977 162980 VAR_002743 + P69905:p.Gly23Asp chr16 162980 162983 VAR_002744 + P69905:p.Glu24Gly chr16 162980 162983 VAR_002745 + P69905:p.Glu24Lys chr16 162983 162986 VAR_002746 + P69905:p.Tyr25His chr16 162989 162992 VAR_002747 + P69905:p.Ala27Glu chr16 162989 162992 VAR_025387 + P69905:p.Ala27Val chr16 162992 162995 VAR_002748 + P69905:p.Glu28Asp chr16 162992 162995 VAR_002749 + P69905:p.Glu28Gly chr16 162992 162995 VAR_002750 + P69905:p.Glu28Val chr16 163001 163004 VAR_002751 + P69905:p.Glu31Lys chr16 163004 163006 VAR_025002 + P69905:p.Arg32Lys chr16 163123 163124 VAR_025002 + P69905:p.Arg32Lys chr16 163004 163006 VAR_002752 + P69905:p.Arg32Ser chr16 163123 163124 VAR_002752 + P69905:p.Arg32Ser chr16 163130 163133 VAR_002753 + P69905:p.Leu35Arg chr16 163139 163142 VAR_002755 + P69905:p.Pro38Pro chr16 163139 163142 VAR_002754 + P69905:p.Pro38Arg chr16 163148 163151 VAR_002756 + P69905:p.Lys41Met chr16 163151 163154 VAR_002757 + P69905:p.Thr42Ser chr16 163157 163160 VAR_002758 + P69905:p.Phe44Leu chr16 163160 163163 VAR_002759 + P69905:p.Pro45Leu chr16 163160 163163 VAR_002760 + P69905:p.Pro45Arg chr16 163163 163166 VAR_002761 + P69905:p.His46Gln chr16 163163 163166 VAR_002762 + P69905:p.His46Arg chr16 163169 163172 VAR_002763 + P69905:p.Asp48Ala chr16 163169 163172 VAR_002764 + P69905:p.Asp48Gly chr16 163169 163172 VAR_002765 + P69905:p.Asp48His chr16 163169 163172 VAR_002766 + P69905:p.Asp48Tyr chr16 163172 163175 VAR_002767 + P69905:p.Leu49Arg chr16 163175 163178 VAR_002768 + P69905:p.Ser50Arg chr16 163178 163181 VAR_002769 + P69905:p.His51Arg chr16 163181 163184 VAR_002770 + P69905:p.Gly52Asp chr16 163181 163184 VAR_002771 + P69905:p.Gly52Arg chr16 163187 163190 VAR_002772 + P69905:p.Ala54Asp chr16 163190 163193 VAR_002773 + P69905:p.Gln55Arg chr16 163196 163199 VAR_002774 + P69905:p.Lys57Arg chr16 163196 163199 VAR_002775 + P69905:p.Lys57Thr chr16 163199 163202 VAR_002776 + P69905:p.Gly58Arg chr16 163202 163205 VAR_025388 + P69905:p.His59Gln chr16 163202 163205 VAR_002777 + P69905:p.His59Tyr chr16 163205 163208 VAR_002778 + P69905:p.Gly60Asp chr16 163205 163208 VAR_002779 + P69905:p.Gly60Val chr16 163208 163211 VAR_002780 + P69905:p.Lys61Asn chr16 163208 163211 VAR_002781 + P69905:p.61del chr16 163211 163214 VAR_002782 + P69905:p.Lys62Asn chr16 163211 163214 VAR_002783 + P69905:p.Lys62Thr chr16 163214 163217 VAR_002784 + P69905:p.Val63Met chr16 163217 163220 VAR_002785 + P69905:p.Ala64Asp chr16 163220 163223 VAR_002786 + P69905:p.Asp65Tyr chr16 163232 163235 VAR_002787 + P69905:p.Asn69Lys chr16 163241 163244 VAR_002788 + P69905:p.Ala72Glu chr16 163241 163244 VAR_002789 + P69905:p.Ala72Val chr16 163244 163247 VAR_002790 + P69905:p.His73Arg chr16 163250 163253 VAR_002791 + P69905:p.Asp75Ala chr16 163250 163253 VAR_002792 + P69905:p.Asp75Gly chr16 163250 163253 VAR_002793 + P69905:p.Asp75Asn chr16 163253 163256 VAR_002794 + P69905:p.Asp76Ala chr16 163253 163256 VAR_002795 + P69905:p.Asp76His chr16 163256 163259 VAR_002796 + P69905:p.Met77Lys chr16 163256 163259 VAR_002797 + P69905:p.Met77Thr chr16 163259 163262 VAR_002798 + P69905:p.Pro78Arg chr16 163262 163265 VAR_002799 + P69905:p.Asn79His chr16 163262 163265 VAR_002800 + P69905:p.Asn79Lys chr16 163265 163268 VAR_012662 + P69905:p.Ala80Gly chr16 163268 163271 VAR_002801 + P69905:p.Leu81Arg chr16 163271 163274 VAR_002802 + P69905:p.Ser82Cys chr16 163274 163277 VAR_002803 + P69905:p.Ala83Asp chr16 163280 163283 VAR_002804 + P69905:p.Ser85Arg chr16 163283 163286 VAR_002805 + P69905:p.Asp86Val chr16 163283 163286 VAR_002806 + P69905:p.Asp86Tyr chr16 163286 163289 VAR_002807 + P69905:p.Leu87Arg chr16 163289 163292 VAR_002808 + P69905:p.His88Asn chr16 163289 163292 VAR_002809 + P69905:p.His88Arg chr16 163292 163295 VAR_002810 + P69905:p.Ala89Ser chr16 163298 163301 VAR_002811 + P69905:p.Lys91Met chr16 163301 163304 VAR_002812 + P69905:p.Leu92Pro chr16 163304 163307 VAR_002813 + P69905:p.Arg93Gln chr16 163304 163307 VAR_020775 + P69905:p.Arg93Trp chr16 163310 163313 VAR_025389 + P69905:p.Asp95Ala chr16 163310 163313 VAR_002814 + P69905:p.Asp95Tyr chr16 163313 163316 VAR_002815 + P69905:p.Pro96Ala chr16 163313 163316 VAR_002816 + P69905:p.Pro96Thr chr16 163319 163322 VAR_002817 + P69905:p.Asn98Lys chr16 163325 163328 VAR_002818 + P69905:p.Lys100Glu chr16 163476 163479 VAR_002819 + P69905:p.Ser103Arg chr16 163479 163482 VAR_002820 + P69905:p.His104Arg chr16 163479 163482 VAR_025390 + P69905:p.His104Tyr chr16 163497 163500 VAR_002821 + P69905:p.Leu110Arg chr16 163500 163503 VAR_002822 + P69905:p.Ala111Asp chr16 163506 163509 VAR_002823 + P69905:p.His113Asp chr16 163509 163512 VAR_002824 + P69905:p.Leu114His chr16 163512 163515 VAR_002825 + P69905:p.Pro115Leu chr16 163512 163515 VAR_002826 + P69905:p.Pro115Arg chr16 163512 163515 VAR_002827 + P69905:p.Pro115Ser chr16 163515 163518 VAR_002828 + P69905:p.Ala116Asp chr16 163518 163521 VAR_002829 + P69905:p.Glu117Ala chr16 163518 163521 VAR_002830 + P69905:p.Glu117Glu chr16 163521 163524 VAR_002831 + P69905:p.Phe118Phe chr16 163524 163527 VAR_002832 + P69905:p.Thr119Thr chr16 163530 163533 VAR_002833 + P69905:p.Ala121Glu chr16 163533 163536 VAR_002834 + P69905:p.Val122Met chr16 163536 163539 VAR_002835 + P69905:p.His123Gln chr16 163545 163548 VAR_002836 + P69905:p.Leu126Pro chr16 163545 163548 VAR_025391 + P69905:p.Leu126Arg chr16 163548 163551 VAR_025392 + P69905:p.Asp127Gly chr16 163548 163551 VAR_002837 + P69905:p.Asp127Val chr16 163548 163551 VAR_002838 + P69905:p.Asp127Tyr chr16 163551 163554 VAR_002839 + P69905:p.Lys128Asn chr16 163557 163560 VAR_002840 + P69905:p.Leu130Pro chr16 163560 163563 VAR_002842 + P69905:p.Ala131Asp chr16 163560 163563 VAR_002841 + P69905:p.Ala131Pro chr16 163563 163566 VAR_002843 + P69905:p.Ser132Pro chr16 163569 163572 VAR_002844 + P69905:p.Ser134Arg chr16 163575 163578 VAR_002845 + P69905:p.Val136Glu chr16 163578 163581 VAR_002846 + P69905:p.Leu137Met chr16 163578 163581 VAR_002847 + P69905:p.Leu137Pro chr16 163578 163581 VAR_035242 + P69905:p.Leu137Arg chr16 163584 163587 VAR_002848 + P69905:p.Ser139Pro chr16 163587 163590 VAR_002849 + P69905:p.Lys140Glu chr16 163587 163590 VAR_002850 + P69905:p.Lys140Thr chr16 163590 163593 VAR_002851 + P69905:p.Tyr141His chr16 163593 163596 VAR_002852 + P69905:p.Arg142Cys chr16 163593 163596 VAR_002854 + P69905:p.Arg142His chr16 163593 163596 VAR_002853 + P69905:p.Arg142Leu chr16 163593 163596 VAR_002855 + P69905:p.Arg142Pro chr11 5204821 5204824 VAR_002856 - P68871:p.Val2Ala chr11 5204818 5204821 VAR_002857 - P68871:p.His3Leu chr11 5204818 5204821 VAR_002858 - P68871:p.His3Gln chr11 5204818 5204821 VAR_002859 - P68871:p.His3Arg chr11 5204818 5204821 VAR_002860 - P68871:p.His3Tyr chr11 5204809 5204812 VAR_002861 - P68871:p.Pro6Arg chr11 5204806 5204809 VAR_002862 - P68871:p.Glu7Ala chr11 5204806 5204809 VAR_002864 - P68871:p.Glu7Lys chr11 5204806 5204809 VAR_002865 - P68871:p.Glu7Gln chr11 5204806 5204809 VAR_002863 - P68871:p.Glu7Val chr11 5204803 5204806 VAR_002866 - P68871:p.Glu8Gly chr11 5204803 5204806 VAR_002867 - P68871:p.Glu8Lys chr11 5204800 5204803 VAR_002868 - P68871:p.Lys9Glu chr11 5204800 5204803 VAR_002869 - P68871:p.Lys9Gln chr11 5204800 5204803 VAR_002870 - P68871:p.Lys9Thr chr11 5204797 5204800 VAR_002871 - P68871:p.Ser10Cys chr11 5204794 5204797 VAR_002872 - P68871:p.Ala11Asp chr11 5204794 5204797 VAR_025393 - P68871:p.Ala11Val chr11 5204791 5204794 VAR_002873 - P68871:p.Val12Asp chr11 5204791 5204794 VAR_002874 - P68871:p.Val12Ile chr11 5204785 5204788 VAR_002875 - P68871:p.Ala14Asp chr11 5204782 5204785 VAR_002876 - P68871:p.Leu15Pro chr11 5204782 5204785 VAR_002877 - P68871:p.Leu15Arg chr11 5204779 5204782 VAR_002878 - P68871:p.Trp16Gly chr11 5204779 5204782 VAR_002879 - P68871:p.Trp16Arg chr11 5204776 5204779 VAR_002880 - P68871:p.Gly17Asp chr11 5204776 5204779 VAR_002881 - P68871:p.Gly17Arg chr11 5204773 5204776 VAR_002882 - P68871:p.Lys18Glu chr11 5204773 5204776 VAR_002883 - P68871:p.Lys18Asn chr11 5204773 5204776 VAR_002884 - P68871:p.Lys18Gln chr11 5204770 5204773 VAR_002885 - P68871:p.Val19Met chr11 5204767 5204770 VAR_002886 - P68871:p.Asn20Asp chr11 5204767 5204770 VAR_002887 - P68871:p.Asn20Lys chr11 5204767 5204770 VAR_002888 - P68871:p.Asn20Ser chr11 5204764 5204767 VAR_002889 - P68871:p.Val21Met chr11 5204761 5204764 VAR_002890 - P68871:p.Asp22Gly chr11 5204761 5204764 VAR_002892 - P68871:p.Asp22His chr11 5204761 5204764 VAR_002891 - P68871:p.Asp22Asn chr11 5204761 5204764 VAR_002893 - P68871:p.Asp22Tyr chr11 5204758 5204761 VAR_002894 - P68871:p.Glu23Ala chr11 5204758 5204761 VAR_002895 - P68871:p.Glu23Gly chr11 5204758 5204761 VAR_002896 - P68871:p.Glu23Lys chr11 5204758 5204761 VAR_002897 - P68871:p.Glu23Gln chr11 5204758 5204761 VAR_002898 - P68871:p.Glu23Val chr11 5204755 5204758 VAR_002899 - P68871:p.Val24Asp chr11 5204755 5204758 VAR_002900 - P68871:p.Val24Phe chr11 5204755 5204758 VAR_002901 - P68871:p.Val24Gly chr11 5204752 5204755 VAR_002902 - P68871:p.Gly25Asp chr11 5204752 5204755 VAR_002903 - P68871:p.Gly25Arg chr11 5204752 5204755 VAR_002904 - P68871:p.Gly25Val chr11 5204749 5204752 VAR_002905 - P68871:p.Gly26Asp chr11 5204749 5204752 VAR_002906 - P68871:p.Gly26Arg chr11 5204746 5204749 VAR_002907 - P68871:p.Glu27Lys chr11 5204746 5204749 VAR_002908 - P68871:p.Glu27Val chr11 5204743 5204746 VAR_002909 - P68871:p.Ala28Asp chr11 5204743 5204746 VAR_002910 - P68871:p.Ala28Ser chr11 5204743 5204746 VAR_002911 - P68871:p.Ala28Val chr11 5204740 5204743 VAR_002912 - P68871:p.Leu29Pro chr11 5204740 5204743 VAR_035236 - P68871:p.Leu29Gln chr11 5204737 5204740 VAR_002913 - P68871:p.Gly30Asp chr11 5204601 5204604 VAR_002915 - P68871:p.Leu32Pro chr11 5204598 5204601 VAR_002916 - P68871:p.Leu33Arg chr11 5204598 5204601 VAR_002917 - P68871:p.Leu33Val chr11 5204592 5204595 VAR_025394 - P68871:p.Val35Asp chr11 5204592 5204595 VAR_002918 - P68871:p.Val35Phe chr11 5204592 5204595 VAR_025395 - P68871:p.Val35Leu chr11 5204589 5204592 VAR_002919 - P68871:p.Tyr36Phe chr11 5204586 5204589 VAR_002920 - P68871:p.Pro37Arg chr11 5204586 5204589 VAR_002921 - P68871:p.Pro37Ser chr11 5204586 5204589 VAR_002922 - P68871:p.Pro37Thr chr11 5204583 5204586 VAR_002923 - P68871:p.Trp38Gly chr11 5204583 5204586 VAR_002925 - P68871:p.Trp38Arg chr11 5204583 5204586 VAR_002924 - P68871:p.Trp38Ser chr11 5204580 5204583 VAR_002926 - P68871:p.Thr39Asn chr11 5204577 5204580 VAR_002927 - P68871:p.Gln40Glu chr11 5204577 5204580 VAR_002928 - P68871:p.Gln40Lys chr11 5204577 5204580 VAR_002929 - P68871:p.Gln40Arg chr11 5204571 5204574 VAR_002930 - P68871:p.Phe42Tyr chr11 5204571 5204574 VAR_035237 - P68871:p.42del chr11 5204568 5204571 VAR_002931 - P68871:p.Phe43Leu chr11 5204568 5204571 VAR_035239 - P68871:p.Phe43Ser chr11 5204568 5204571 VAR_035238 - P68871:p.43del chr11 5204565 5204568 VAR_002932 - P68871:p.Glu44Gln chr11 5204562 5204565 VAR_002933 - P68871:p.Ser45Cys chr11 5204559 5204562 VAR_002934 - P68871:p.Phe46Ser chr11 5204556 5204559 VAR_002935 - P68871:p.Gly47Glu chr11 5204553 5204556 VAR_002936 - P68871:p.Asp48Ala chr11 5204553 5204556 VAR_002937 - P68871:p.Asp48Gly chr11 5204553 5204556 VAR_002938 - P68871:p.Asp48Tyr chr11 5204550 5204553 VAR_002939 - P68871:p.Leu49Pro chr11 5204547 5204550 VAR_002940 - P68871:p.Ser50Phe chr11 5204544 5204547 VAR_002941 - P68871:p.Thr51Lys chr11 5204541 5204544 VAR_002942 - P68871:p.Pro52Arg chr11 5204538 5204541 VAR_002943 - P68871:p.Asp53Ala chr11 5204538 5204541 VAR_002944 - P68871:p.Asp53His chr11 5204532 5204535 VAR_002945 - P68871:p.Val55Asp chr11 5204529 5204532 VAR_002946 - P68871:p.Met56Lys chr11 5204526 5204529 VAR_002947 - P68871:p.Gly57Arg chr11 5204523 5204526 VAR_002948 - P68871:p.Asn58Lys chr11 5204520 5204523 VAR_002949 - P68871:p.Pro59Arg chr11 5204517 5204520 VAR_002950 - P68871:p.Lys60Glu chr11 5204514 5204517 VAR_002951 - P68871:p.Val61Ala chr11 5204511 5204514 VAR_002952 - P68871:p.Lys62Glu chr11 5204511 5204514 VAR_002953 - P68871:p.Lys62Met chr11 5204511 5204514 VAR_002954 - P68871:p.Lys62Asn chr11 5204508 5204511 VAR_002955 - P68871:p.Ala63Asp chr11 5204508 5204511 VAR_002956 - P68871:p.Ala63Pro chr11 5204505 5204508 VAR_002957 - P68871:p.His64Tyr chr11 5204499 5204502 VAR_002958 - P68871:p.Lys66Met chr11 5204499 5204502 VAR_002959 - P68871:p.Lys66Asn chr11 5204499 5204502 VAR_002960 - P68871:p.Lys66Gln chr11 5204496 5204499 VAR_002961 - P68871:p.Lys67Thr chr11 5204493 5204496 VAR_002962 - P68871:p.Val68Ala chr11 5204493 5204496 VAR_035240 - P68871:p.Val68Asp chr11 5204493 5204496 VAR_040060 - P68871:p.Val68Gly chr11 5204493 5204496 VAR_002963 - P68871:p.Val68Met chr11 5204490 5204493 VAR_002964 - P68871:p.Leu69His chr11 5204490 5204493 VAR_002965 - P68871:p.Leu69Pro chr11 5204487 5204490 VAR_002966 - P68871:p.Gly70Asp chr11 5204487 5204490 VAR_002967 - P68871:p.Gly70Arg chr11 5204487 5204490 VAR_002968 - P68871:p.Gly70Ser chr11 5204484 5204487 VAR_002969 - P68871:p.Ala71Asp chr11 5204481 5204484 VAR_002970 - P68871:p.Phe72Ser chr11 5204475 5204478 VAR_002971 - P68871:p.Asp74Gly chr11 5204475 5204478 VAR_002972 - P68871:p.Asp74Val chr11 5204475 5204478 VAR_002973 - P68871:p.Asp74Tyr chr11 5204472 5204475 VAR_002974 - P68871:p.Gly75Arg chr11 5204472 5204475 VAR_002975 - P68871:p.Gly75Val chr11 5204469 5204472 VAR_002976 - P68871:p.Leu76Pro chr11 5204469 5204472 VAR_002977 - P68871:p.Leu76Arg chr11 5204466 5204469 VAR_002978 - P68871:p.Ala77Asp chr11 5204463 5204466 VAR_002979 - P68871:p.His78Asp chr11 5204463 5204466 VAR_002980 - P68871:p.His78Arg chr11 5204463 5204466 VAR_002981 - P68871:p.His78Tyr chr11 5204460 5204463 VAR_002982 - P68871:p.Leu79Arg chr11 5204457 5204460 VAR_002983 - P68871:p.Asp80Tyr chr11 5204454 5204457 VAR_002984 - P68871:p.Asn81Lys chr11 5204451 5204454 VAR_012663 - P68871:p.Leu82His chr11 5204451 5204454 VAR_002985 - P68871:p.Leu82Arg chr11 5204448 5204451 VAR_002986 - P68871:p.Lys83Met chr11 5204448 5204451 VAR_012664 - P68871:p.Lys83Asn chr11 5204445 5204448 VAR_025396 - P68871:p.Gly84Asp chr11 5204445 5204448 VAR_002987 - P68871:p.Gly84Arg chr11 5204442 5204445 VAR_002988 - P68871:p.Thr85Ile chr11 5204436 5204439 VAR_002989 - P68871:p.Ala87Asp chr11 5204433 5204436 VAR_002990 - P68871:p.Thr88Ile chr11 5204433 5204436 VAR_002991 - P68871:p.Thr88Lys chr11 5204433 5204436 VAR_002992 - P68871:p.Thr88Pro chr11 5204430 5204433 VAR_002993 - P68871:p.Leu89Pro chr11 5204430 5204433 VAR_002994 - P68871:p.Leu89Arg chr11 5204427 5204430 VAR_002995 - P68871:p.Ser90Asn chr11 5204427 5204430 VAR_002996 - P68871:p.Ser90Arg chr11 5204424 5204427 VAR_002997 - P68871:p.Glu91Asp chr11 5204424 5204427 VAR_002998 - P68871:p.Glu91Lys chr11 5204421 5204424 VAR_002999 - P68871:p.Leu92Pro chr11 5204421 5204424 VAR_003000 - P68871:p.Leu92Arg chr11 5204418 5204421 VAR_003001 - P68871:p.His93Asp chr11 5204418 5204421 VAR_003002 - P68871:p.His93Asn chr11 5204418 5204421 VAR_003003 - P68871:p.His93Pro chr11 5204418 5204421 VAR_003004 - P68871:p.His93Gln chr11 5204415 5204418 VAR_003005 - P68871:p.Cys94Arg chr11 5204412 5204415 VAR_003006 - P68871:p.Asp95Gly chr11 5204412 5204415 VAR_003007 - P68871:p.Asp95His chr11 5204412 5204415 VAR_003008 - P68871:p.Asp95Asn chr11 5204409 5204412 VAR_003009 - P68871:p.Lys96Met chr11 5204409 5204412 VAR_003010 - P68871:p.Lys96Asn chr11 5204406 5204409 VAR_003011 - P68871:p.Leu97Pro chr11 5204406 5204409 VAR_003012 - P68871:p.Leu97Val chr11 5204403 5204406 VAR_003013 - P68871:p.His98Leu chr11 5204403 5204406 VAR_003014 - P68871:p.His98Pro chr11 5204403 5204406 VAR_003015 - P68871:p.His98Gln chr11 5204403 5204406 VAR_003016 - P68871:p.His98Tyr chr11 5204400 5204403 VAR_003017 - P68871:p.Val99Gly chr11 5204397 5204400 VAR_003018 - P68871:p.Asp100Glu chr11 5204394 5204397 VAR_003019 - P68871:p.Pro101Leu chr11 5204394 5204397 VAR_003020 - P68871:p.Pro101Arg chr11 5204391 5204394 VAR_003021 - P68871:p.Glu102Asp chr11 5204391 5204394 VAR_003022 - P68871:p.Glu102Gly chr11 5204391 5204394 VAR_003023 - P68871:p.Glu102Lys chr11 5204391 5204394 VAR_003024 - P68871:p.Glu102Gln chr11 5204388 5204391 VAR_003025 - P68871:p.Asn103Ser chr11 5204388 5204391 VAR_003026 - P68871:p.Asn103Tyr chr11 5204385 5204388 VAR_003027 - P68871:p.Phe104Leu chr11 5204382 5204385 VAR_003028 - P68871:p.Arg105Ser chr11 5204382 5204385 VAR_003029 - P68871:p.Arg105Thr chr11 5203523 5203526 VAR_003030 - P68871:p.Gly108Arg chr11 5203520 5203523 VAR_003031 - P68871:p.Asn109Lys chr11 5203517 5203520 VAR_003032 - P68871:p.Val110Met chr11 5203514 5203517 VAR_003033 - P68871:p.Leu111Pro chr11 5203511 5203514 VAR_003034 - P68871:p.Val112Ala chr11 5203508 5203511 VAR_025397 - P68871:p.Cys113Phe chr11 5203508 5203511 VAR_003035 - P68871:p.Cys113Arg chr11 5203508 5203511 VAR_003036 - P68871:p.Cys113Tyr chr11 5203502 5203505 VAR_010144 - P68871:p.Leu115Met chr11 5203502 5203505 VAR_010145 - P68871:p.Leu115Pro chr11 5203499 5203502 VAR_003037 - P68871:p.Ala116Asp chr11 5203499 5203502 VAR_003038 - P68871:p.Ala116Pro chr11 5203496 5203499 VAR_025398 - P68871:p.His117Leu chr11 5203496 5203499 VAR_003039 - P68871:p.His117Gln chr11 5203493 5203496 VAR_003040 - P68871:p.His118Pro chr11 5203493 5203496 VAR_003041 - P68871:p.His118Arg chr11 5203493 5203496 VAR_025399 - P68871:p.His118Tyr chr11 5203487 5203490 VAR_003042 - P68871:p.Gly120Ala chr11 5203484 5203487 VAR_003043 - P68871:p.Lys121Glu chr11 5203484 5203487 VAR_003044 - P68871:p.Lys121Ile chr11 5203484 5203487 VAR_003045 - P68871:p.Lys121Gln chr11 5203481 5203484 VAR_003046 - P68871:p.Glu122Ala chr11 5203481 5203484 VAR_003047 - P68871:p.Glu122Gly chr11 5203481 5203484 VAR_003049 - P68871:p.Glu122Lys chr11 5203481 5203484 VAR_003048 - P68871:p.Glu122Gln chr11 5203481 5203484 VAR_003050 - P68871:p.Glu122Val chr11 5203475 5203478 VAR_003051 - P68871:p.Thr124Ile chr11 5203472 5203475 VAR_003053 - P68871:p.Pro125Gln chr11 5203472 5203475 VAR_003052 - P68871:p.Pro125Arg chr11 5203472 5203475 VAR_003054 - P68871:p.Pro125Ser chr11 5203466 5203469 VAR_003055 - P68871:p.Val127Ala chr11 5203466 5203469 VAR_003057 - P68871:p.Val127Glu chr11 5203466 5203469 VAR_003056 - P68871:p.Val127Gly chr11 5203463 5203466 VAR_003058 - P68871:p.Gln128Glu chr11 5203463 5203466 VAR_003059 - P68871:p.Gln128Lys chr11 5203460 5203463 VAR_003060 - P68871:p.Ala129Asp chr11 5203457 5203460 VAR_003061 - P68871:p.Ala130Pro chr11 5203457 5203460 VAR_003062 - P68871:p.Ala130Val chr11 5203454 5203457 VAR_003063 - P68871:p.Tyr131Asp chr11 5203454 5203457 VAR_003064 - P68871:p.Tyr131Ser chr11 5203451 5203454 VAR_003065 - P68871:p.Gln132Glu chr11 5203451 5203454 VAR_003066 - P68871:p.Gln132Lys chr11 5203451 5203454 VAR_003067 - P68871:p.Gln132Pro chr11 5203451 5203454 VAR_003068 - P68871:p.Gln132Arg chr11 5203448 5203451 VAR_003069 - P68871:p.Lys133Asn chr11 5203448 5203451 VAR_003070 - P68871:p.Lys133Gln chr11 5203445 5203448 VAR_003071 - P68871:p.Val134Leu chr11 5203442 5203445 VAR_003072 - P68871:p.Val135Glu chr11 5203439 5203442 VAR_003073 - P68871:p.Ala136Glu chr11 5203439 5203442 VAR_003074 - P68871:p.Ala136Pro chr11 5203436 5203439 VAR_003075 - P68871:p.Gly137Asp chr11 5203430 5203433 VAR_003076 - P68871:p.Ala139Pro chr11 5203427 5203430 VAR_003077 - P68871:p.Asn140Asp chr11 5203427 5203430 VAR_003078 - P68871:p.Asn140Lys chr11 5203427 5203430 VAR_025335 - P68871:p.Asn140Ser chr11 5203427 5203430 VAR_003079 - P68871:p.Asn140Tyr chr11 5203424 5203427 VAR_003080 - P68871:p.Ala141Asp chr11 5203424 5203427 VAR_003081 - P68871:p.Ala141Thr chr11 5203424 5203427 VAR_003082 - P68871:p.Ala141Val chr11 5203421 5203424 VAR_003083 - P68871:p.Leu142Arg chr11 5203418 5203421 VAR_003084 - P68871:p.Ala143Asp chr11 5203415 5203418 VAR_003085 - P68871:p.His144Asp chr11 5203415 5203418 VAR_003087 - P68871:p.His144Pro chr11 5203415 5203418 VAR_003086 - P68871:p.His144Gln chr11 5203415 5203418 VAR_003088 - P68871:p.His144Arg chr11 5203412 5203415 VAR_003089 - P68871:p.Lys145Glu chr11 5203409 5203412 VAR_003090 - P68871:p.Tyr146Cys chr11 5203409 5203412 VAR_003091 - P68871:p.Tyr146His chr11 5203406 5203409 VAR_003092 - P68871:p.His147Asp chr11 5203406 5203409 VAR_003093 - P68871:p.His147Leu chr11 5203406 5203409 VAR_003094 - P68871:p.His147Pro chr11 5203406 5203409 VAR_003095 - P68871:p.His147Gln chr11 5212233 5212236 VAR_003096 - P02042:p.Val2Ala chr11 5212230 5212233 VAR_030499 - P02042:p.His3Leu chr11 5212230 5212233 VAR_003097 - P02042:p.His3Arg chr11 5212224 5212227 VAR_018740 - P02042:p.Thr5Ile chr11 5212224 5212227 VAR_018741 - P02042:p.Thr5Ser chr11 5212206 5212209 VAR_030500 - P02042:p.Ala11Asp chr11 5212203 5212206 VAR_030501 - P02042:p.Val12Gly chr11 5212200 5212203 VAR_003098 - P02042:p.Asn13Lys chr11 5212188 5212191 VAR_003099 - P02042:p.Gly17Arg chr11 5212176 5212179 VAR_003100 - P02042:p.Val21Glu chr11 5212170 5212173 VAR_003101 - P02042:p.Ala23Glu chr11 5212164 5212167 VAR_003102 - P02042:p.Gly25Asp chr11 5212161 5212164 VAR_003103 - P02042:p.Gly26Asp chr11 5212158 5212161 VAR_003104 - P02042:p.Glu27Asp chr11 5212155 5212158 VAR_003105 - P02042:p.Ala28Ser chr11 5212000 5212003 VAR_030502 - P02042:p.Pro37His chr11 5211979 5211982 VAR_003106 - P02042:p.Glu44Gly chr11 5211979 5211982 VAR_003107 - P02042:p.Glu44Lys chr11 5211967 5211970 VAR_003108 - P02042:p.Asp48Val chr11 5211955 5211958 VAR_003109 - P02042:p.Pro52Arg chr11 5211937 5211940 VAR_030503 - P02042:p.Asn58Lys chr11 5211901 5211904 VAR_003110 - P02042:p.Gly70Arg chr11 5211898 5211901 VAR_030504 - P02042:p.Ala71Gly chr11 5211883 5211886 VAR_003111 - P02042:p.Leu76Val chr11 5211853 5211856 VAR_030505 - P02042:p.Phe86Ser chr11 5211847 5211850 VAR_030506 - P02042:p.Gln88Lys chr11 5211844 5211847 VAR_030507 - P02042:p.Leu89Val chr11 5211838 5211841 VAR_003112 - P02042:p.Glu91Val chr11 5211829 5211832 VAR_014277 - P02042:p.Cys94Gly chr11 5211814 5211817 VAR_003113 - P02042:p.Val99Met chr11 5211811 5211814 VAR_003114 - P02042:p.Asp100Asn chr11 5211796 5211799 VAR_030508 - P02042:p.Arg105Ser chr11 5210862 5210865 VAR_003115 - P02042:p.Arg117Cys chr11 5210862 5210865 VAR_003116 - P02042:p.Arg117His chr11 5210859 5210862 VAR_003117 - P02042:p.Asn118Asp chr11 5210847 5210850 VAR_003118 - P02042:p.Glu122Val chr11 5210835 5210838 VAR_003119 - P02042:p.Gln126Glu chr11 5210811 5210814 VAR_030509 - P02042:p.Val134Ala chr11 5210802 5210805 VAR_003120 - P02042:p.Gly137Asp chr11 5210790 5210793 VAR_030510 - P02042:p.Ala141Val chr11 5210787 5210790 VAR_003121 - P02042:p.Leu142Pro chr11 5210784 5210787 VAR_003122 - P02042:p.Ala143Asp chr11 5210772 5210775 VAR_014278 - P02042:p.His147Arg chr11 5232525 5232528 VAR_003124 - P69891:p.His3Gln chr11 5232516 5232519 VAR_003125 - P69891:p.Glu6Lys chr11 5232513 5232516 VAR_003127 - P69891:p.Glu7Gly chr11 5232513 5232516 VAR_003128 - P69891:p.Glu7Gln chr11 5232495 5232498 VAR_003130 - P69891:p.Thr13Arg chr11 5232465 5232468 VAR_003135 - P69891:p.Asp23Gly chr11 5232456 5232459 VAR_003138 - P69891:p.Gly26Arg chr11 5232301 5232304 VAR_003141 - P69891:p.Pro37Arg chr11 5232298 5232301 VAR_003142 - P69891:p.Trp38Gly chr11 5232292 5232295 VAR_003143 - P69891:p.Gln40Arg chr11 5232289 5232292 VAR_003145 - P69891:p.Arg41Lys chr11 5232280 5232283 VAR_003147 - P69891:p.Asp44Asn chr11 5232250 5232253 VAR_003149 - P69891:p.Ala54Asp chr11 5232226 5232229 VAR_003153 - P69891:p.Lys62Glu chr11 5232193 5232196 VAR_003158 - P69891:p.Gly73Arg chr11 5232190 5232193 VAR_003160 - P69891:p.Asp74His chr11 5232190 5232193 VAR_003159 - P69891:p.Asp74Asn chr11 5232184 5232187 VAR_003161 - P69891:p.Ile76Thr chr11 5232172 5232175 VAR_003163 - P69891:p.Asp80Asn chr11 5232169 5232172 VAR_003165 - P69891:p.Asp81Asn chr11 5232169 5232172 VAR_003164 - P69891:p.Asp81Tyr chr11 5232118 5232121 VAR_003168 - P69891:p.His98Arg chr11 5226242 5226245 VAR_003173 - P69891:p.Glu122Lys chr11 5226221 5226224 VAR_003175 - P69891:p.Ala129Thr chr11 5226203 5226206 VAR_003177 - P69891:p.Val135Met chr11 5232528 5232531 VAR_003123 - P69892:p.Gly2Cys chr11 5232516 5232519 VAR_003126 - P69892:p.Glu6Gly chr11 5232510 5232513 VAR_003129 - P69892:p.Asp8Asn chr11 5232507 5232510 VAR_020643 - P69892:p.Lys9Glu chr11 5232507 5232510 VAR_020644 - P69892:p.Lys9Gln chr11 5232495 5232498 VAR_020645 - P69892:p.Thr13Arg chr11 5232486 5232489 VAR_003131 - P69892:p.Trp16Arg chr11 5232483 5232486 VAR_003132 - P69892:p.Gly17Arg chr11 5232480 5232483 VAR_020646 - P69892:p.Lys18Asn chr11 5232474 5232477 VAR_020647 - P69892:p.Asn20Lys chr11 5232471 5232474 VAR_030496 - P69892:p.Val21Ala chr11 5232468 5232471 VAR_003133 - P69892:p.Glu22Lys chr11 5232468 5232471 VAR_003134 - P69892:p.Glu22Gln chr11 5232465 5232468 VAR_020648 - P69892:p.Asp23Gly chr11 5232465 5232468 VAR_003136 - P69892:p.Asp23Val chr11 5232456 5232459 VAR_003137 - P69892:p.Gly26Glu chr11 5232453 5232456 VAR_003139 - P69892:p.Glu27Lys chr11 5232307 5232310 VAR_003140 - P69892:p.Val35Ile chr11 5232295 5232298 VAR_030497 - P69892:p.Thr39Pro chr11 5232289 5232292 VAR_003144 - P69892:p.Arg41Gly chr11 5232289 5232292 VAR_020649 - P69892:p.Arg41Lys chr11 5232286 5232289 VAR_003146 - P69892:p.Phe42Ser chr11 5232277 5232280 VAR_003148 - P69892:p.Ser45Arg chr11 5232244 5232247 VAR_003150 - P69892:p.Met56Arg chr11 5232232 5232235 VAR_003151 - P69892:p.Lys60Glu chr11 5232232 5232235 VAR_003152 - P69892:p.Lys60Gln chr11 5232220 5232223 VAR_025336 - P69892:p.His64Leu chr11 5232220 5232223 VAR_003154 - P69892:p.His64Tyr chr11 5232214 5232217 VAR_003155 - P69892:p.Lys66Asn chr11 5232211 5232214 VAR_003157 - P69892:p.Lys67Gln chr11 5232211 5232214 VAR_003156 - P69892:p.Lys67Arg chr11 5232193 5232196 VAR_020650 - P69892:p.Gly73Arg chr11 5232184 5232187 VAR_020651 - P69892:p.Ile76Thr chr11 5232184 5232187 VAR_030498 - P69892:p.Ile76Val chr11 5232178 5232181 VAR_003162 - P69892:p.His78Arg chr11 5232169 5232172 VAR_020652 - P69892:p.Asp81Asn chr11 5232133 5232136 VAR_003166 - P69892:p.His93Tyr chr11 5232127 5232130 VAR_003167 - P69892:p.Asp95Asn chr11 5232106 5232109 VAR_003169 - P69892:p.Glu102Lys chr11 5232097 5232100 VAR_003170 - P69892:p.Lys105Asn chr11 5231172 5231175 VAR_003171 - P69892:p.His118Arg chr11 5231169 5231172 VAR_015740 - P69892:p.Phe119Leu chr11 5231163 5231166 VAR_003172 - P69892:p.Lys121Gln chr11 5231160 5231163 VAR_020653 - P69892:p.Glu122Lys chr11 5231148 5231151 VAR_003174 - P69892:p.Glu126Ala chr11 5231133 5231136 VAR_003176 - P69892:p.Trp131Gly chr11 5231085 5231088 VAR_003179 - P69892:p.His147Tyr chrX 53342076 53342079 VAR_015987 - Q99714:p.Leu122Val chrX 53342052 53342055 VAR_015988 - Q99714:p.Arg130Cys chrX 53341417 53341420 VAR_032093 - Q99714:p.Asn247Ser chr4 109268809 109268812 VAR_024079 + Q16836:p.Ala40Thr chr4 109288554 109288557 VAR_024080 + Q16836:p.Asp57Glu chr4 109311997 109312000 VAR_024081 + Q16836:p.Pro258Leu chrX 152741204 152741207 VAR_019813 - P51610:p.Ser1164Pro chr12 102978778 102978781 VAR_033984 + Q9Y5Z7:p.Gly268Ala chr20 30123192 30123195 VAR_041707 + P08631:p.Ala44Thr chr20 30125265 30125268 VAR_041708 + P08631:p.Met105Leu chr20 30145428 30145431 VAR_041709 + P08631:p.Asp399Gly chr20 30152905 30152908 VAR_033836 + P08631:p.Pro502Gln chr15 71404769 71404772 VAR_026534 - Q9Y3Q4:p.Asp553Asn chr15 71403609 71403612 VAR_026535 - Q9Y3Q4:p.Ser672Arg chr22 48986876 48986879 VAR_015067 - Q969S8:p.Gly584Cys chr2 239760762 239760765 VAR_036042 - P56524:p.Pro727Arg chr12 46478846 46478849 VAR_036043 - Q8WUI4:p.Val43Met chr6 125663396 125663399 VAR_037238 - Q7Z4H3:p.Arg64Cys chr18 42914919 42914922 VAR_032289 - Q9H0R4:p.Arg85Gln chr9 113215750 113215753 VAR_032298 - Q9BSH5:p.Gly146Glu chr4 3113661 3113670 VAR_005268 + P42858:p.38_40del chr1 233047699 233047702 VAR_010939 - Q9H583:p.Asn1694Ser chr1 233045232 233045235 VAR_010940 - Q9H583:p.Val1854Ala chr1 233044658 233044661 VAR_010941 - Q9H583:p.Asn1967Asp chr1 233043965 233043968 VAR_010942 - Q9H583:p.Glu2017Gly chr16 48670292 48670295 VAR_033989 + Q7Z4Q2:p.Arg302Ser chr11 124298889 124298892 VAR_034731 - Q14CZ8:p.Met218Val chr10 93160229 93160232 VAR_026836 + Q5U5R9:p.Pro19Ala chr6 101403107 101403110 VAR_034859 - Q8N3C0:p.Leu146Phe chr6 101205236 101205239 VAR_034860 - Q8N3C0:p.Val1050Ile chr6 101144559 101144562 VAR_034861 - Q8N3C0:p.Cys1800Trp chr6 101072724 101072727 VAR_034862 - Q8N3C0:p.Val1930Met chr6 101070866 101070869 VAR_034863 - Q8N3C0:p.Ser1995Cys chr6 101064063 101064066 VAR_034864 - Q8N3C0:p.Tyr2176Cys chr9 113231453 113231456 VAR_003635 - P13716:p.Arg240Trp chr11 118464192 118464195 VAR_025558 + P08397:p.Met18Ile chr11 118464204 118464207 VAR_003638 + P08397:p.Arg22Cys chr11 118464210 118464213 VAR_011001 + P08397:p.Gly24Ser chr11 118464216 118464219 VAR_011002 + P08397:p.Arg26Cys chr11 118464216 118464219 VAR_003639 + P08397:p.Arg26His chr11 118464222 118464225 VAR_011003 + P08397:p.Ser28Asn chr11 118464557 118464560 VAR_011004 + P08397:p.Ala31Pro chr11 118464557 118464560 VAR_003640 + P08397:p.Ala31Thr chr11 118464566 118464569 VAR_003641 + P08397:p.Gln34Lys chr11 118464566 118464569 VAR_011005 + P08397:p.Gln34Pro chr11 118464566 118464569 VAR_025559 + P08397:p.Gln34Arg chr11 118464569 118464572 VAR_011006 + P08397:p.Thr35Met chr11 118464590 118464593 VAR_011007 + P08397:p.Leu42Ser chr11 118465003 118465006 VAR_003642 + P08397:p.Ala55Ser chr11 118465021 118465024 VAR_011008 + P08397:p.Asp61Asn chr11 118465021 118465024 VAR_025560 + P08397:p.Asp61Tyr chr11 118465157 118465160 VAR_025561 + P08397:p.Thr78Pro chr11 118465163 118465166 VAR_025562 + P08397:p.Glu80Gly chr11 118465166 118465169 VAR_025563 + P08397:p.Leu81Pro chr11 118465178 118465181 VAR_011009 + P08397:p.Leu85Arg chr11 118465181 118465184 VAR_025564 + P08397:p.Glu86Val chr11 118465603 118465606 VAR_011010 + P08397:p.Val90Gly chr11 118465609 118465612 VAR_025565 + P08397:p.Leu92Pro chr11 118465612 118465615 VAR_003643 + P08397:p.Val93Phe chr11 118465612 118465615 VAR_025566 + P08397:p.93del chr11 118465621 118465624 VAR_025567 + P08397:p.Ser96Phe chr11 118465627 118465630 VAR_003644 + P08397:p.Lys98Arg chr11 118465630 118465633 VAR_025568 + P08397:p.Asp99Gly chr11 118465630 118465633 VAR_025569 + P08397:p.Asp99His chr11 118465630 118465633 VAR_025570 + P08397:p.Asp99Asn chr11 118465666 118465669 VAR_003645 + P08397:p.Gly111Arg chr11 118465672 118465675 VAR_025571 + P08397:p.Ile113Thr chr11 118465910 118465913 VAR_003646 + P08397:p.Arg116Gln chr11 118465910 118465913 VAR_003647 + P08397:p.Arg116Trp chr11 118465919 118465922 VAR_003648 + P08397:p.Pro119Leu chr11 118465928 118465931 VAR_025572 + P08397:p.Ala122Gly chr11 118465934 118465937 VAR_011011 + P08397:p.Val124Asp chr11 118466131 118466134 VAR_003649 + P08397:p.Arg149Leu chr11 118466131 118466134 VAR_003650 + P08397:p.Arg149Gln chr11 118466140 118466143 VAR_009223 + P08397:p.152del chr11 118467332 118467335 VAR_003651 + P08397:p.Arg167Gln chr11 118467332 118467335 VAR_003652 + P08397:p.Arg167Trp chr11 118467350 118467353 VAR_003653 + P08397:p.Arg173Gln chr11 118467350 118467353 VAR_003654 + P08397:p.Arg173Trp chr11 118467362 118467365 VAR_003655 + P08397:p.Leu177Arg chr11 118467365 118467368 VAR_011012 + P08397:p.Asp178Asn chr11 118467416 118467419 VAR_003656 + P08397:p.Arg195Cys chr11 118467434 118467437 VAR_003657 + P08397:p.Arg201Trp chr11 118467437 118467440 VAR_011013 + P08397:p.Val202Leu chr11 118468056 118468059 VAR_011014 + P08397:p.Glu209Lys chr11 118468065 118468068 VAR_025573 + P08397:p.Met212Val chr11 118468077 118468080 VAR_011015 + P08397:p.Gly216Asp chr11 118468080 118468083 VAR_011016 + P08397:p.Gln217His chr11 118468080 118468083 VAR_011017 + P08397:p.Gln217Leu chr11 118468326 118468329 VAR_011018 + P08397:p.Ala219Asp chr11 118468335 118468338 VAR_003658 + P08397:p.Val222Met chr11 118468338 118468341 VAR_003659 + P08397:p.Glu223Lys chr11 118468344 118468347 VAR_003660 + P08397:p.Arg225Gly chr11 118468344 118468347 VAR_025574 + P08397:p.Arg225Gln chr11 118468377 118468380 VAR_025575 + P08397:p.Gly236Ser chr11 118468383 118468386 VAR_003661 + P08397:p.Leu238Arg chr11 118468401 118468404 VAR_025576 + P08397:p.Leu244Pro chr11 118468404 118468407 VAR_003662 + P08397:p.Leu245Arg chr11 118468410 118468413 VAR_003663 + P08397:p.Cys247Phe chr11 118468410 118468413 VAR_003664 + P08397:p.Cys247Arg chr11 118468413 118468416 VAR_011019 + P08397:p.Ile248Ile chr11 118468419 118468422 VAR_003665 + P08397:p.Glu250Ala chr11 118468419 118468422 VAR_003666 + P08397:p.Glu250Lys chr11 118468419 118468422 VAR_011020 + P08397:p.Glu250Gln chr11 118468419 118468422 VAR_011021 + P08397:p.Glu250Val chr11 118468425 118468428 VAR_003667 + P08397:p.Ala252Thr chr11 118468425 118468428 VAR_003668 + P08397:p.Ala252Val chr11 118468431 118468434 VAR_025577 + P08397:p.Leu254Pro chr11 118468437 118468440 VAR_003669 + P08397:p.His256Asn chr11 118468437 118468440 VAR_011022 + P08397:p.His256Tyr chr11 118468683 118468686 VAR_025578 + P08397:p.Gly260Asp chr11 118468686 118468689 VAR_025579 + P08397:p.Cys261Tyr chr11 118468704 118468707 VAR_011023 + P08397:p.Val267Met chr11 118468710 118468713 VAR_003670 + P08397:p.Thr269Ile chr11 118468713 118468716 VAR_011024 + P08397:p.Ala270Asp chr11 118468713 118468716 VAR_011025 + P08397:p.Ala270Gly chr11 118468725 118468728 VAR_003671 + P08397:p.Gly274Arg chr11 118468860 118468863 VAR_003672 + P08397:p.Leu278Pro chr11 118468866 118468869 VAR_003673 + P08397:p.Gly280Arg chr11 118468869 118468872 VAR_011026 + P08397:p.281del chr11 118469101 118469113 VAR_011027 + P08397:p.329_332del chr11 118469119 118469122 VAR_011028 + P08397:p.Gly335Asp chr11 118469119 118469122 VAR_011029 + P08397:p.Gly335Ser chr11 118469143 118469146 VAR_025580 + P08397:p.Leu343Pro chr10 127495049 127495052 VAR_021615 - P10746:p.Val3Phe chr10 127495046 127495049 VAR_003674 - P10746:p.Leu4Phe chr10 127495001 127495004 VAR_003675 - P10746:p.Tyr19Cys chr10 127494741 127494744 VAR_021616 - P10746:p.Ser47Pro chr10 127493677 127493680 VAR_003676 - P10746:p.Pro53Leu chr10 127493650 127493653 VAR_003677 - P10746:p.Thr62Ala chr10 127493638 127493641 VAR_003678 - P10746:p.Ala66Val chr10 127493629 127493632 VAR_021617 - P10746:p.Ala69Thr chr10 127493617 127493620 VAR_003679 - P10746:p.Cys73Arg chr10 127490794 127490797 VAR_003681 - P10746:p.Val99Ala chr10 127490779 127490782 VAR_003682 - P10746:p.Ala104Val chr10 127485978 127485981 VAR_021618 - P10746:p.Ile129Thr chr10 127473534 127473537 VAR_013558 - P10746:p.Gly188Arg chr10 127473534 127473537 VAR_021619 - P10746:p.Gly188Trp chr10 127473465 127473471 VAR_021620 - P10746:p.Glu210_Leu211delins chr10 127473462 127473465 VAR_003683 - P10746:p.Ser212Pro chr10 127473441 127473444 VAR_021621 - P10746:p.Ile219Ser chr10 127467549 127467552 VAR_003684 - P10746:p.Gly225Ser chr10 127467540 127467543 VAR_003685 - P10746:p.Thr228Met chr3 99794633 99794636 VAR_023444 - P36551:p.Val135Ala chr3 99794534 99794555 VAR_002151 - P36551:p.162_168del chr3 99792678 99792681 VAR_002152 - P36551:p.Gly189Ser chr3 99792654 99792657 VAR_002153 - P36551:p.Gly197Trp chr3 99792642 99792645 VAR_002154 - P36551:p.Glu201Lys chr3 99792621 99792624 VAR_019067 - P36551:p.Ser208Phe chr3 99792603 99792606 VAR_023445 - P36551:p.Leu214Arg chr3 99792229 99792232 VAR_023446 - P36551:p.Pro249Arg chr3 99792229 99792232 VAR_002155 - P36551:p.Pro249Ser chr3 99790383 99790386 VAR_002156 - P36551:p.Asn272His chr3 99790359 99790362 VAR_002157 - P36551:p.Gly280Arg chr3 99790317 99790320 VAR_002158 - P36551:p.Val294Ile chr3 99790314 99790317 VAR_002159 - P36551:p.His295Asp chr3 99787162 99787165 VAR_019068 - P36551:p.Arg328Cys chr3 99787153 99787156 VAR_002160 - P36551:p.Arg331Trp chr3 99786976 99786979 VAR_002161 - P36551:p.390del chr3 99783005 99783008 VAR_002162 - P36551:p.Lys404Glu chr3 99782300 99782303 VAR_002163 - P36551:p.Trp427Arg chr3 99782240 99782243 VAR_019069 - P36551:p.Arg447Cys chr18 53398331 53398334 VAR_002383 - P22830:p.Gly55Cys chr18 53398310 53398313 VAR_030553 - P22830:p.Pro62Arg chr18 53391576 53391579 VAR_030554 - P22830:p.Ile71Lys chr18 53391501 53391504 VAR_012028 - P22830:p.Arg96Gln chr18 53389667 53389670 VAR_030555 - P22830:p.Gln139Leu chr18 53389631 53389634 VAR_030556 - P22830:p.Ser151Pro chr18 53384740 53384743 VAR_030557 - P22830:p.Glu178Lys chr18 53384728 53384731 VAR_030558 - P22830:p.Leu182Arg chr18 53384716 53384719 VAR_002384 - P22830:p.Ile186Thr chr18 53384701 53384704 VAR_030559 - P22830:p.Tyr191His chr18 53384698 53384701 VAR_030560 - P22830:p.Pro192Thr chr18 53377470 53377473 VAR_030561 - P22830:p.Cys236Tyr chr18 53377398 53377401 VAR_030562 - P22830:p.Phe260Leu chr18 53377377 53377380 VAR_002385 - P22830:p.Met267Ile chr18 53373137 53373140 VAR_030563 - P22830:p.Thr283Ile chr18 53373122 53373125 VAR_030564 - P22830:p.Met288Lys chr18 53372564 53372567 VAR_030565 - P22830:p.Pro334Leu chr18 53369595 53369598 VAR_030566 - P22830:p.Val362Gly chr18 53369544 53369547 VAR_030567 - P22830:p.Lys379Asn chr18 53369055 53369058 VAR_002386 - P22830:p.His386Pro chr18 53368995 53368998 VAR_030568 - P22830:p.Cys406Ser chr18 53368995 53368998 VAR_030569 - P22830:p.Cys406Tyr chr18 53368980 53368992 VAR_030570 - P22830:p.Asn408_Cys411delinsLysSerValGly chr18 53368962 53368965 VAR_002387 - P22830:p.Phe417Ser chr18 53368962 53368965 VAR_030571 - P22830:p.417del chr11 6418057 6418060 VAR_033990 - P02790:p.Arg83Trp chr22 19458172 19458175 VAR_011746 + P05546:p.Ala7Thr chr22 19458331 19458334 VAR_011747 + P05546:p.His60Pro chr22 19458775 19458778 VAR_007112 + P05546:p.Arg208His chr22 19458862 19458865 VAR_011748 + P05546:p.Lys237Arg chr22 19465731 19465734 VAR_011749 + P05546:p.Thr442Met chr19 40467704 40467707 VAR_042512 + P81172:p.Arg59Gly chr19 40467737 40467740 VAR_042513 + P81172:p.Cys70Arg chr19 40467740 40467743 VAR_026648 + P81172:p.Gly71Asp chr19 40467761 40467764 VAR_042514 + P81172:p.Cys78Tyr chrX 65201809 65201812 VAR_024379 + Q9BQS7:p.Ala595Thr chr16 55526647 55526650 VAR_024277 + Q15011:p.Arg50His chr7 35451216 35451219 VAR_031183 - Q9BSE4:p.His200Leu chr2 238929488 238929491 VAR_019540 - Q96HZ4:p.Arg218Gln chr3 57207542 57207545 VAR_010400 - Q9UBX0:p.Asn125Ser chr3 57207342 57207345 VAR_010225 - Q9UBX0:p.Arg160Cys chr15 70455292 70455295 VAR_003202 - P06865:p.Pro25Ser chr15 70455250 70455253 VAR_003203 - P06865:p.Leu39Arg chr15 70434984 70434987 VAR_022439 - P06865:p.Leu127Phe chr15 70434984 70434987 VAR_003204 - P06865:p.Leu127Arg chr15 70432534 70432537 VAR_003205 - P06865:p.Arg166Gly chr15 70432522 70432525 VAR_003206 - P06865:p.Arg170Gln chr15 70432522 70432525 VAR_003207 - P06865:p.Arg170Trp chr15 70432498 70432501 VAR_003208 - P06865:p.Arg178Cys chr15 70432498 70432501 VAR_003209 - P06865:p.Arg178His chr15 70432498 70432501 VAR_003210 - P06865:p.Arg178Leu chr15 70432492 70432495 VAR_003211 - P06865:p.Tyr180His chr15 70430623 70430626 VAR_003212 - P06865:p.Val192Leu chr15 70430611 70430614 VAR_003213 - P06865:p.Asn196Ser chr15 70430608 70430611 VAR_003214 - P06865:p.Lys197Thr chr15 70430599 70430602 VAR_003215 - P06865:p.Val200Met chr15 70430587 70430590 VAR_003216 - P06865:p.His204Arg chr15 70430569 70430572 VAR_003217 - P06865:p.Ser210Phe chr15 70430566 70430569 VAR_003218 - P06865:p.Phe211Ser chr15 70430039 70430042 VAR_022440 - P06865:p.Ser226Phe chr15 70429976 70429979 VAR_003219 - P06865:p.Arg247Trp chr15 70429970 70429973 VAR_003220 - P06865:p.Arg249Trp chr15 70429967 70429970 VAR_003221 - P06865:p.Gly250Asp chr15 70429967 70429970 VAR_003222 - P06865:p.Gly250Ser chr15 70429961 70429964 VAR_003223 - P06865:p.Arg252His chr15 70429961 70429964 VAR_017188 - P06865:p.Arg252Leu chr15 70429943 70429946 VAR_003224 - P06865:p.Asp258His chr15 70428622 70428625 VAR_003226 - P06865:p.Ser279Pro chr15 70428574 70428577 VAR_017189 - P06865:p.Asn295Ser chr15 70428556 70428559 VAR_003227 - P06865:p.Met301Arg chr15 70428547 70428550 VAR_003228 - P06865:p.304del chr15 70428517 70428520 VAR_022442 - P06865:p.Asp314Val chr15 70428499 70428502 VAR_003229 - P06865:p.320del chr15 70427510 70427513 VAR_003230 - P06865:p.Ile335Phe chr15 70427459 70427477 VAR_003231 - P06865:p.347_352del chr15 70426078 70426081 VAR_003232 - P06865:p.Val391Met chr15 70426054 70426057 VAR_003233 - P06865:p.Asn399Asp chr15 70425991 70425994 VAR_003234 - P06865:p.Trp420Cys chr15 70425688 70425691 VAR_003236 - P06865:p.Gly454Ser chr15 70425685 70425688 VAR_003237 - P06865:p.Gly455Arg chr15 70425676 70425679 VAR_003238 - P06865:p.Cys458Tyr chr15 70424920 70424923 VAR_003240 - P06865:p.Glu482Lys chr15 70424914 70424917 VAR_003241 - P06865:p.Leu484Gln chr15 70424911 70424914 VAR_003242 - P06865:p.Trp485Arg chr15 70424869 70424872 VAR_003243 - P06865:p.Arg499Cys chr15 70424869 70424872 VAR_003244 - P06865:p.Arg499His chr15 70424854 70424857 VAR_003245 - P06865:p.Arg504Cys chr15 70424854 70424857 VAR_003246 - P06865:p.Arg504His chr5 74020969 74020972 VAR_003248 + P07686:p.Lys121Arg chr5 74028636 74028639 VAR_003249 + P07686:p.Ile207Val chr5 74036892 74036895 VAR_011704 + P07686:p.Ser255Arg chr5 74047113 74047116 VAR_003250 + P07686:p.Cys309Tyr chr5 74050383 74050386 VAR_003251 + P07686:p.Pro417Leu chr5 74050500 74050503 VAR_003252 + P07686:p.Tyr456Ser chr5 74052224 74052227 VAR_011705 + P07686:p.Pro504Ser chr5 74052227 74052230 VAR_003253 + P07686:p.Arg505Gln chr5 74052314 74052317 VAR_003254 + P07686:p.Cys534Tyr chr5 74052711 74052714 VAR_011706 + P07686:p.Ala543Thr chr6 126117342 126117345 VAR_026974 + Q9UBP5:p.Thr96Ala chr6 126117348 126117351 VAR_026975 + Q9UBP5:p.Asp98Ala chr6 126117354 126117357 VAR_026976 + Q9UBP5:p.Leu100Ser chr6 126122044 126122047 VAR_026977 + Q9UBP5:p.Val140Met chr6 26195662 26195665 VAR_042506 + Q30201:p.Arg6Ser chr6 26199097 26199100 VAR_042507 + Q30201:p.Gly43Asp chr6 26199127 26199130 VAR_008111 + Q30201:p.Val53Met chr6 26199145 26199148 VAR_008112 + Q30201:p.Val59Met chr6 26199157 26199160 VAR_004396 + Q30201:p.His63Asp chr6 26199163 26199166 VAR_004397 + Q30201:p.Ser65Cys chr6 26199166 26199169 VAR_042508 + Q30201:p.Arg66Cys chr6 26199247 26199250 VAR_008729 + Q30201:p.Gly93Arg chr6 26199283 26199286 VAR_008730 + Q30201:p.Ile105Thr chr6 26199558 26199561 VAR_008113 + Q30201:p.Gln127His chr6 26199705 26199708 VAR_042509 + Q30201:p.Ala176Val chr6 26200923 26200926 VAR_020270 + Q30201:p.Thr217Ile chr6 26200944 26200947 VAR_042510 + Q30201:p.Arg224Gly chr6 26201103 26201106 VAR_008731 + Q30201:p.Glu277Lys chr6 26201118 26201121 VAR_004398 + Q30201:p.Cys282Tyr chr6 26201121 26201124 VAR_037304 + Q30201:p.Gln283Pro chr6 26201157 26201160 VAR_042511 + Q30201:p.Val295Ala chr6 26201420 26201423 VAR_008114 + Q30201:p.Arg330Met chr3_random 25662 25665 VAR_009618 + Q93099:p.Leu25Pro chr3_random 26515 26518 VAR_005272 + Q93099:p.Glu42Ala chr3_random 30937 30940 VAR_005273 + Q93099:p.Trp60Gly chr3_random 30943 30946 VAR_005274 + Q93099:p.Tyr62Cys chr3_random 48823 48826 VAR_005275 + Q93099:p.Trp97Gly chr3_random 50624 50627 VAR_005276 + Q93099:p.Ala122Asp chr3_random 53579 53582 VAR_005277 + Q93099:p.Asp153Gly chr3_random 54427 54430 VAR_005278 + Q93099:p.Gly161Arg chr3_random 54448 54451 VAR_009619 + Q93099:p.Glu168Lys chr3_random 55117 55120 VAR_005279 + Q93099:p.Ser189Ile chr3_random 55198 55201 VAR_005280 + Q93099:p.Ile216Thr chr3_random 57048 57051 VAR_005281 + Q93099:p.Arg225His chr3_random 57054 57057 VAR_005282 + Q93099:p.Phe227Ser chr3_random 57063 57066 VAR_005283 + Q93099:p.Pro230Ser chr3_random 57063 57066 VAR_005284 + Q93099:p.Pro230Thr chr3_random 59808 59811 VAR_009620 + Q93099:p.Gly270Arg chr3_random 59871 59874 VAR_005285 + Q93099:p.Asp291Glu chr3_random 62905 62908 VAR_005286 + Q93099:p.Val300Gly chr3_random 62995 62998 VAR_008744 + Q93099:p.Arg330Ser chr3_random 68234 68237 VAR_005287 + Q93099:p.Met368Val chr3_random 68243 68246 VAR_008745 + Q93099:p.His371Arg chr4 3483080 3483083 VAR_033651 + Q04756:p.Val225Met chr4 3483098 3483101 VAR_033652 + Q04756:p.Phe231Leu chr4 3486619 3486622 VAR_024294 + Q04756:p.Arg509His chr4 3488076 3488079 VAR_024295 + Q04756:p.Arg644Gln chr7 81031178 81031181 VAR_014570 - P14210:p.Ser153Ile chr7 81003699 81003702 VAR_019199 - P14210:p.Glu304Lys chr7 81003621 81003624 VAR_019200 - P14210:p.Asp330Tyr chr3 42710151 42710154 VAR_014947 - Q9HCP6:p.Met403Val chr1 206966277 206966280 VAR_024743 + Q5VTY9:p.Ser182Asn chr1 207185360 207185363 VAR_024744 + Q5VTY9:p.Gly448Glu chr1 207185366 207185369 VAR_024745 + Q5VTY9:p.Asn450Ser chr4 145985880 145985883 VAR_021518 + Q96QV1:p.Val341Ile chr3 109554986 109554989 VAR_027487 + Q9UM44:p.Ile30Thr chr3 109563904 109563907 VAR_027488 + Q9UM44:p.Asn344Lys chr3 109563964 109563967 VAR_027489 + Q9UM44:p.Ser364Arg chr14 61283460 61283463 VAR_015854 + Q16665:p.Thr796Ala chr12 121868900 121868903 VAR_020043 + O75146:p.Val782Met chr19 45587331 45587334 VAR_040554 - Q8NE63:p.Ala106Thr chr19 45581838 45581841 VAR_040555 - Q8NE63:p.Val171Met chr19 45578831 45578834 VAR_030578 - Q8NE63:p.Arg302Gln chr19 45578594 45578597 VAR_040556 - Q8NE63:p.Thr381Met chr19 45578579 45578582 VAR_040557 - Q8NE63:p.Ala386Thr chr19 45578519 45578522 VAR_040558 - Q8NE63:p.Ser406Arg chr19 45578474 45578477 VAR_040559 - Q8NE63:p.Gly421Ser chr19 45578294 45578297 VAR_040560 - Q8NE63:p.Arg481Cys chr16 29912136 29912139 VAR_028115 - Q9BW71:p.Gly521Trp chr4 71079661 71079664 VAR_005288 + P15516:p.Arg41Gln chr4 71079679 71079694 VAR_005289 + P15516:p.47_51del chr17 50753107 50753110 VAR_008515 + Q16534:p.Ile253Phe chr20 29606259 29606262 VAR_014274 + Q8TCT9:p.Ala259Pro chr1 182716186 182716189 VAR_024811 + Q96RW7:p.Ala1624Val chr1 182756297 182756300 VAR_024812 + Q96RW7:p.Met2327Ile chr1 182758129 182758132 VAR_024813 + Q96RW7:p.Ile2418Thr chr1 182782072 182782075 VAR_024814 + Q96RW7:p.Glu2893Gly chr1 182823759 182823762 VAR_024815 + Q96RW7:p.His4084Tyr chr1 182845383 182845386 VAR_024816 + Q96RW7:p.Ala4720Thr chr1 182865901 182865904 VAR_024817 + Q96RW7:p.Asp5087Val chr1 182879293 182879296 VAR_024818 + Q96RW7:p.Gln5345Arg chr1 120019233 120019236 VAR_032757 - P54868:p.Val54Met chr1 120018894 120018897 VAR_032758 - P54868:p.Tyr167Cys chr1 120018873 120018876 VAR_032711 - P54868:p.Phe174Leu chr1 120014577 120014580 VAR_032759 - P54868:p.Gly212Arg chr1 120005493 120005496 VAR_032760 - P54868:p.Arg500His chr5 74687954 74687957 VAR_011954 + P04035:p.Ile638Val chr7 154750908 154750911 VAR_021985 + P19622:p.Leu121Phe chr1 23892326 23892329 VAR_003744 - P35914:p.Arg41Gln chr1 23892323 23892326 VAR_003745 - P35914:p.Asp42Glu chr1 23892323 23892326 VAR_003746 - P35914:p.Asp42Gly chr1 23892323 23892326 VAR_003747 - P35914:p.Asp42His chr1 23889313 23889316 VAR_003748 - P35914:p.Val70Leu chr1 23879981 23879984 VAR_003749 - P35914:p.His233Arg chr1 23876234 23876237 VAR_014202 - P35914:p.Glu279Lys chr1 26484118 26484121 VAR_003716 + P05204:p.Glu7Lys chr5 162829227 162829230 VAR_024155 + O75330:p.Arg92Cys chr5 162833651 162833654 VAR_031661 + O75330:p.Asn305Lys chr5 162833732 162833735 VAR_024156 + O75330:p.Arg332His chr5 162835092 162835095 VAR_020044 + O75330:p.Val368Ala chr5 162842292 162842295 VAR_024157 + O75330:p.Ala484Val chr22 34101738 34101741 VAR_019165 + P09601:p.Asp7His chr22 34107402 34107405 VAR_022156 + P09601:p.Pro106Leu chr16 4497918 4497921 VAR_021067 + P30519:p.Arg137Gln chr16 4497945 4497948 VAR_021068 + P30519:p.Pro146Leu chr12 119879324 119879327 VAR_010537 + P20823:p.Leu12His chr12 119879348 119879351 VAR_012483 + P20823:p.Gly20Arg chr12 119879369 119879372 VAR_007905 + P20823:p.Ile27Leu chr12 119879381 119879384 VAR_010538 + P20823:p.Gly31Asp chr12 119879432 119879435 VAR_010539 + P20823:p.Glu48Lys chr12 119879582 119879585 VAR_010540 + P20823:p.Ala98Val chr12 119879609 119879612 VAR_010541 + P20823:p.Leu107Arg chr12 119889377 119889380 VAR_010542 + P20823:p.Lys117Glu chr12 119889392 119889395 VAR_003756 + P20823:p.Tyr122Cys chr12 119889407 119889410 VAR_033088 + P20823:p.Asn127Tyr chr12 119889410 119889413 VAR_010543 + P20823:p.Ile128Asn chr12 119889413 119889416 VAR_010544 + P20823:p.Pro129Thr chr12 119889419 119889422 VAR_010545 + P20823:p.Arg131Gln chr12 119889419 119889422 VAR_010546 + P20823:p.Arg131Trp chr12 119889425 119889428 VAR_010547 + P20823:p.Val133Met chr12 119889452 119889455 VAR_003757 + P20823:p.Ser142Phe chr12 119889455 119889458 VAR_010548 + P20823:p.His143Tyr chr12 119889500 119889503 VAR_010549 + P20823:p.Lys158Asn chr12 119889503 119889506 VAR_003758 + P20823:p.Arg159Gln chr12 119889503 119889506 VAR_010550 + P20823:p.Arg159Trp chr12 119889509 119889512 VAR_010551 + P20823:p.Ala161Thr chr12 119889521 119889524 VAR_033089 + P20823:p.Trp165Cys chr12 119894086 119894089 VAR_010552 + P20823:p.Gly191Asp chr12 119894113 119894116 VAR_010553 + P20823:p.Arg200Trp chr12 119894122 119894125 VAR_010554 + P20823:p.Arg203Cys chr12 119894122 119894125 VAR_012484 + P20823:p.Arg203His chr12 119894128 119894131 VAR_010555 + P20823:p.Lys205Gln chr12 119894131 119894134 VAR_033090 + P20823:p.Trp206Cys chr12 119894131 119894134 VAR_033091 + P20823:p.Trp206Leu chr12 119894200 119894203 VAR_010556 + P20823:p.Arg229Gln chr12 119894224 119894227 VAR_033092 + P20823:p.Asn237Ser chr12 119894693 119894696 VAR_010557 + P20823:p.Cys241Gly chr12 119894702 119894705 VAR_033093 + P20823:p.Arg244Gly chr12 119894720 119894723 VAR_033094 + P20823:p.Gln250Pro chr12 119894732 119894735 VAR_010558 + P20823:p.Leu254Met chr12 119894747 119894750 VAR_010559 + P20823:p.Val259Asp chr12 119894750 119894753 VAR_010560 + P20823:p.Thr260Met chr12 119894759 119894762 VAR_010561 + P20823:p.Arg263Cys chr12 119894774 119894777 VAR_033095 + P20823:p.Phe268Cys chr12 119894783 119894786 VAR_010562 + P20823:p.Arg271Trp chr12 119894786 119894789 VAR_010563 + P20823:p.Arg272Cys chr12 119894786 119894789 VAR_003759 + P20823:p.Arg272His chr12 119894789 119894792 VAR_033096 + P20823:p.Lys273Glu chr12 119894927 119894928 VAR_010564 + P20823:p.Gly319Ser chr12 119896784 119896786 VAR_010564 + P20823:p.Gly319Ser chr12 119897198 119897201 VAR_010565 + P20823:p.Gly415Arg chr12 119897249 119897252 VAR_012485 + P20823:p.Ser432Cys chr12 119898025 119898028 VAR_003760 + P20823:p.Pro447Leu chr12 119898145 119898148 VAR_007906 + P20823:p.Ser487Asn chr12 119899828 119899831 VAR_010566 + P20823:p.His514Arg chr12 119899843 119899846 VAR_010567 + P20823:p.Pro519Leu chr12 119899897 119899900 VAR_010568 + P20823:p.Thr537Arg chr12 119900128 119900131 VAR_003761 + P20823:p.Arg583Gly chr12 119900128 119900131 VAR_010570 + P20823:p.Arg583Gln chr12 119901598 119901601 VAR_010571 + P20823:p.Ser594Ile chr12 119901670 119901673 VAR_012486 + P20823:p.Ile618Met chr12 119901673 119901676 VAR_010572 + P20823:p.Glu619Lys chr12 119901676 119901679 VAR_010573 + P20823:p.Thr620Ile chr17 33135239 33135242 VAR_017665 - P35680:p.Ser465Arg chr17 33135158 33135161 VAR_012058 - P35680:p.Gly492Ser chr20 42475767 42475770 VAR_004668 + P41235:p.Arg136Trp chr20 42475776 42475779 VAR_004669 + P41235:p.Thr139Ile chr20 42481827 42481830 VAR_010600 + P41235:p.Val264Met chr20 42481890 42481893 VAR_010601 + P41235:p.Glu285Gln chr20 42490462 42490465 VAR_004670 + P41235:p.Val402Ile chr20 42491626 42491629 VAR_011785 + P41235:p.Pro445Ser chr15 50869148 50869151 VAR_010729 - Q9UBC0:p.Pro75Ala chr2 138593379 138593382 VAR_010252 + P50135:p.Thr105Ile chr1 12841634 12841637 VAR_033723 - O60812:p.Val258Asp chr10 69768952 69768955 VAR_020333 + P31942:p.Asn163Ser chr19 46462518 46462521 VAR_025606 + Q9BUJ2:p.Gly91Cys chr19 18901311 18901314 VAR_017410 - Q9NSC5:p.Ser342Arg chr1 60036174 60036177 VAR_035709 + Q9UJC3:p.Ser433Leu chr19 12747233 12747236 VAR_017575 - Q96ED9:p.Gly10Arg chr19 12737963 12737966 VAR_017576 - Q96ED9:p.His488Gln chr8 42938655 42938658 VAR_035710 + Q86VS8:p.Gln221Arg chr17 37978902 37978905 VAR_037841 - Q9P2W1:p.Tyr163Asn chr1 147492104 147492107 VAR_031801 - Q86X24:p.Thr267Ile chr19 60482707 60482716 VAR_023645 - Q9NZL4:p.25_27del chr5 82973136 82973139 VAR_036168 - P10915:p.Arg333His chrX 133319879 133319882 VAR_006750 + P00492:p.Gly7Asp chrX 133319882 133319885 VAR_006751 + P00492:p.Val8Gly chrX 133332926 133332929 VAR_006752 + P00492:p.Gly16Asp chrX 133332926 133332929 VAR_006753 + P00492:p.Gly16Ser chrX 133332938 133332941 VAR_006754 + P00492:p.Asp20Val chrX 133332947 133332950 VAR_006755 + P00492:p.Cys23Trp chrX 133332962 133332965 VAR_012312 + P00492:p.28del chrX 133333001 133333004 VAR_006756 + P00492:p.Leu41Pro chrX 133333004 133333007 VAR_006757 + P00492:p.Ile42Phe chrX 133333004 133333007 VAR_006758 + P00492:p.Ile42Thr chrX 133333007 133333013 VAR_006759 + P00492:p.Met43_Asp44delinsArgAsn chrX 133333013 133333015 VAR_006760 + P00492:p.Arg45Lys chrX 133334730 133334731 VAR_006760 + P00492:p.Arg45Lys chrX 133334737 133334740 VAR_006761 + P00492:p.Arg48His chrX 133334743 133334746 VAR_006763 + P00492:p.Ala50Pro chrX 133334743 133334746 VAR_006762 + P00492:p.Ala50Val chrX 133334746 133334749 VAR_006764 + P00492:p.Arg51Gly chrX 133334746 133334749 VAR_006765 + P00492:p.Arg51Pro chrX 133334749 133334752 VAR_006766 + P00492:p.Asp52Gly chrX 133334752 133334755 VAR_006767 + P00492:p.Val53Ala chrX 133334752 133334755 VAR_006768 + P00492:p.Val53Met chrX 133334755 133334758 VAR_006769 + P00492:p.Met54Leu chrX 133334764 133334767 VAR_006770 + P00492:p.Met57Thr chrX 133334767 133334770 VAR_006771 + P00492:p.Gly58Arg chrX 133334776 133334779 VAR_006772 + P00492:p.His61Arg chrX 133334803 133334806 VAR_006773 + P00492:p.Gly70Glu chrX 133334806 133334809 VAR_006774 + P00492:p.Gly71Arg chrX 133334815 133334818 VAR_006775 + P00492:p.Phe74Leu chrX 133334827 133334830 VAR_006776 + P00492:p.Leu78Val chrX 133334833 133334836 VAR_006777 + P00492:p.Asp80Val chrX 133334905 133334908 VAR_006778 + P00492:p.Ser104Arg chrX 133346023 133346026 VAR_006779 + P00492:p.Ser110Leu chrX 133349740 133349743 VAR_006780 + P00492:p.Val130Asp chrX 133349743 133349746 VAR_006781 + P00492:p.Leu131Ser chrX 133349746 133349749 VAR_006782 + P00492:p.Ile132Met chrX 133349746 133349749 VAR_006783 + P00492:p.Ile132Thr chrX 133353057 133353060 VAR_006784 + P00492:p.Asp135Gly chrX 133353081 133353084 VAR_006785 + P00492:p.Met143Lys chrX 133353081 133353084 VAR_006786 + P00492:p.Met143Met chrX 133353135 133353138 VAR_006787 + P00492:p.Ala161Ser chrX 133353138 133353140 VAR_006788 + P00492:p.Ser162Arg chrX 133357939 133357940 VAR_006788 + P00492:p.Ser162Arg chrX 133357955 133357958 VAR_006789 + P00492:p.Thr168Ile chrX 133357979 133357982 VAR_006790 + P00492:p.Pro176Leu chrX 133357982 133357985 VAR_006791 + P00492:p.Asp177Val chrX 133357982 133357985 VAR_006792 + P00492:p.Asp177Tyr chrX 133358159 133358165 VAR_006794 + P00492:p.Val179_Gly180delinsGlyArg chrX 133358159 133358162 VAR_006793 + P00492:p.179del chrX 133358171 133358174 VAR_006796 + P00492:p.Ile183Thr chrX 133358186 133358189 VAR_006795 + P00492:p.Val188Ala chrX 133358204 133358207 VAR_006797 + P00492:p.Asp194Glu chrX 133358204 133358207 VAR_006798 + P00492:p.Asp194Asn chrX 133358207 133358210 VAR_006799 + P00492:p.Tyr195Cys chrX 133358219 133358222 VAR_006800 + P00492:p.Phe199Val chrX 133358225 133358228 VAR_006801 + P00492:p.Asp201Gly chrX 133358225 133358228 VAR_006802 + P00492:p.Asp201Asn chrX 133358225 133358228 VAR_006803 + P00492:p.Asp201Tyr chrX 133359579 133359582 VAR_006804 + P00492:p.His204Asp chrX 133359579 133359582 VAR_006805 + P00492:p.His204Arg chrX 133359585 133359588 VAR_006806 + P00492:p.Cys206Tyr chr10 100185471 100185474 VAR_007950 - Q92902:p.55del chr10 100185116 100185119 VAR_014887 - Q92902:p.Glu100Asp chr10 100180987 100180990 VAR_014888 - Q92902:p.Ala186Val chr10 100179555 100179558 VAR_005290 - Q92902:p.Gly283Trp chr10 100173591 100173594 VAR_038378 - Q92902:p.Ala480Thr chr10 100173558 100173561 VAR_005291 - Q92902:p.Pro491Arg chr10 100169839 100169842 VAR_005292 - Q92902:p.Gln603Arg chr10 100167971 100167974 VAR_005293 - Q92902:p.Val630Ile chr3 150341611 150341614 VAR_038379 + Q969F9:p.Glu275Lys chr3 150351108 150351111 VAR_035928 + Q969F9:p.Arg397Gln chr3 150351108 150351111 VAR_013251 + Q969F9:p.Arg397Trp chr22 25186764 25186767 VAR_025006 - Q9NQG7:p.Glu229Gly chr22 25184820 25184823 VAR_024158 - Q9NQG7:p.Leu443Val chr22 25184493 25184496 VAR_025007 - Q9NQG7:p.Val552Met chr22 25178992 25178995 VAR_024159 - Q9NQG7:p.His606Tyr chr22 25178458 25178461 VAR_021836 - Q9NQG7:p.Gln625His chr11 18275753 18275756 VAR_015513 - Q9UPZ3:p.Leu417Met chr10 100471414 100471417 VAR_030472 - Q8WWQ2:p.Ala315Thr chr10 100209362 100209365 VAR_023601 - Q8WWQ2:p.Tyr579Phe chr4 84589115 84589118 VAR_023600 - Q9Y251:p.Asn260Ser chr16 70647639 70648862 VAR_017112 + P00738:p.29_87del chr16 70651645 70651648 VAR_005294 + P00738:p.Asn193Asp chr16 70651648 70651651 VAR_017113 + P00738:p.Glu194Lys chr16 70652257 70652260 VAR_017114 + P00738:p.Asp397His chr3 187870479 187870482 VAR_020488 + P04196:p.Asp118Gly chr3 187872259 187872262 VAR_022080 + P04196:p.Ile180Thr chr3 187873328 187873331 VAR_014528 + P04196:p.Pro204Ser chr3 187877813 187877816 VAR_020489 + P04196:p.His340Arg chr3 187878101 187878104 VAR_024427 + P04196:p.Gly436Arg chr3 187878137 187878140 VAR_024428 + P04196:p.Arg448Cys chr3 187878272 187878275 VAR_024429 + P04196:p.Asn493Ile chr3 11276530 11276533 VAR_033476 + P35367:p.Gly270Glu chr3 11276875 11276878 VAR_035761 + P35367:p.Asp385Glu chr5 175043490 175043493 VAR_009958 + P25021:p.Asn217Asp chr5 175043532 175043535 VAR_009959 + P25021:p.Lys231Arg chr5 175043643 175043646 VAR_009960 + P25021:p.Val268Met chr20 60224954 60224957 VAR_012235 - Q9Y5N1:p.Ala280Val chr18 20310762 20310765 VAR_033477 + Q9H3N8:p.Ala138Val chr18 20310966 20310969 VAR_033478 + Q9H3N8:p.His206Arg chr11 63013014 63013017 VAR_024486 - Q96KN8:p.Ala93Pro chr11 117812524 117812527 VAR_021317 + Q03164:p.Ala30Gly chr11 117812593 117812596 VAR_021318 + Q03164:p.Ala53Val chr11 117848587 117848590 VAR_021319 + Q03164:p.Glu502Lys chr11 117878780 117878783 VAR_021320 + Q03164:p.Ser2319Thr chr11 117878885 117878888 VAR_021321 + Q03164:p.Pro2354Arg chr11 117878984 117878987 VAR_021322 + Q03164:p.Gln2387Arg chr11 117895544 117895547 VAR_021323 + Q03164:p.Val3714Ile chr11 117895885 117895888 VAR_021324 + Q03164:p.Ser3773Ala chr4 11077832 11077835 VAR_021515 - O14792:p.Pro22Thr chr6 31887704 31887707 VAR_025841 - P34931:p.Ala8Pro chr6 31886924 31886927 VAR_025842 - P34931:p.Ala268Thr chr6 31886846 31886849 VAR_025843 - P34931:p.Asp294Gly chr6 31886291 31886294 VAR_025844 - P34931:p.Thr479Met chr6 31886249 31886252 VAR_003820 - P34931:p.Thr493Met chr6 31886054 31886057 VAR_025845 - P34931:p.Glu558Ala chr6 31885922 31885925 VAR_025846 - P34931:p.Glu602Lys chr4 129080660 129080663 VAR_031214 + O95757:p.Asn216Thr chr6 31891794 31891797 VAR_032152 + P08107:p.Ile95Val chr6 31891839 31891842 VAR_029053 + P08107:p.Glu110Asp chr6 31892910 31892913 VAR_032153 + P08107:p.Ala467Val chr6 31893006 31893009 VAR_029054 + P08107:p.Asn499Ser chr14 64077890 64077893 VAR_032706 + P54652:p.Cys191Ser chr14 64078805 64078808 VAR_032707 + P54652:p.Lys496Glu chr1 158308094 158308097 VAR_024182 + P17066:p.Leu198Phe chr1 158309186 158309189 VAR_024183 + P17066:p.Asp562Glu chr10 14930644 14930647 VAR_036347 + Q0VDF9:p.Ala85Val chr7 75577783 75577786 VAR_018506 + P04792:p.Arg127Trp chr7 75577807 75577810 VAR_018507 + P04792:p.Ser135Phe chr7 75577810 75577813 VAR_018508 + P04792:p.Arg136Trp chr7 75577973 75577976 VAR_018509 + P04792:p.Thr151Ile chr7 75578066 75578069 VAR_018510 + P04792:p.Pro182Leu chr11 111289610 111289613 VAR_016316 + Q16082:p.Gly111Ser chr12 118080035 118080038 VAR_042244 + Q9UJY1:p.Gly67Ser chr12 118080068 118080071 VAR_042245 + Q9UJY1:p.Arg78Met chr12 118087602 118087605 VAR_018504 + Q9UJY1:p.Lys141Glu chr12 118087602 118087605 VAR_018505 + Q9UJY1:p.Lys141Asn chr17 37528397 37528400 VAR_022054 + Q9BQS6:p.Gln2Pro chr11 20354713 20354716 VAR_023713 + Q9BUP3:p.Arg106Ser chr11 20354719 20354722 VAR_023714 + Q9BUP3:p.Asp108Tyr chr11 20354743 20354746 VAR_023715 + Q9BUP3:p.Ala116Thr chr11 20354797 20354800 VAR_023716 + Q9BUP3:p.Gly134Val chr11 20354827 20354830 VAR_023717 + Q9BUP3:p.Leu144Ile chr22 18474711 18474714 VAR_033721 - Q8IZ69:p.Ser602Arg chr22 18474705 18474708 VAR_035482 - Q8IZ69:p.Pro604Ser chr2 74669208 74669211 VAR_027349 + O43464:p.Ala141Ser chr2 74671479 74671482 VAR_027350 + O43464:p.Gly399Ser chrX 135318855 135318858 VAR_027362 + O43719:p.Gly478Ala chr6 601554 601557 VAR_031206 - Q8NHY5:p.His130Gln chr6 601341 601344 VAR_031207 - Q8NHY5:p.Gln201Arg chr7 47789653 47789656 VAR_033999 - O60921:p.Ser126Gly chr7 47789590 47789593 VAR_025414 - O60921:p.Gln147Lys chr7 47780739 47780742 VAR_025415 - O60921:p.Asp221Glu chr12 94889022 94889025 VAR_022915 - P42357:p.Arg206Thr chr12 94889016 94889019 VAR_022916 - P42357:p.Arg208Leu chr12 94886716 94886719 VAR_022917 - P42357:p.Pro259Leu chr12 94883397 94883400 VAR_022918 - P42357:p.Arg322Pro chr12 94877079 94877082 VAR_006042 - P42357:p.Val439Ile chr3 127709320 127709323 VAR_034000 - Q96N76:p.Arg188Trp chr3 127702790 127702793 VAR_034001 - Q96N76:p.Ser311Thr chr3 127700906 127700909 VAR_042732 - Q96N76:p.Arg429Cys chr7 27012561 27012564 VAR_017773 - P31271:p.Ala125Ala chr7 27012549 27012552 VAR_017774 - P31271:p.Ala129Ala chr7 27011110 27011113 VAR_017775 - P31271:p.Gln371Leu chr7 27011107 27011110 VAR_017776 - P31271:p.Asn372His chr7 26908204 26908207 VAR_030576 - P49639:p.Glu189Ala chr7 26914127 26914130 VAR_011880 - O43364:p.Met196Leu chr7 26923373 26923376 VAR_036264 - O43365:p.Asp42Asn chr7 26923106 26923109 VAR_036265 - O43365:p.Ala131Thr chr7 26943481 26943484 VAR_036266 - Q00056:p.Gly37Asp chr7 26943382 26943385 VAR_028414 - Q00056:p.Thr70Pro chr7 26943172 26943175 VAR_028415 - Q00056:p.Leu140Pro chr7 26943058 26943061 VAR_028416 - Q00056:p.Leu178Phe chr7 26942293 26942296 VAR_028417 - Q00056:p.Thr251Pro chr7 26942095 26942098 VAR_028418 - Q00056:p.Pro317Ser chr17 44160831 44160834 VAR_031849 - Q92826:p.Thr41Met chr17 43963184 43963187 VAR_003817 - P14653:p.Ala27Ala chr12 52653679 52653682 VAR_031850 + O43248:p.Pro130Ser chr12 52653955 52653958 VAR_034002 + O43248:p.Ala222Val chr12 52619104 52619107 VAR_012357 + P31276:p.Ser50Ile chr12 52680497 52680500 VAR_036267 + P31274:p.Gly87Ser chr2 176798322 176798325 VAR_031647 + P31277:p.Gly245Asp chr2 176783269 176783290 VAR_031649 + P35453:p.49_55del chr2 176783269 176783275 VAR_031648 + P35453:p.49_50del chr2 176880275 176880278 VAR_034003 + Q9GZZ0:p.Ala296Thr chr2 176813807 176813810 VAR_031851 + P28356:p.259del chr10 70814108 70814111 VAR_009878 + P19367:p.Leu529Ser chr10 70821888 70821891 VAR_023780 + P19367:p.Thr680Ser chr10 70824817 70824820 VAR_023781 + P19367:p.Leu776Met chr2 75011129 75011132 VAR_003691 + P52789:p.Gln142His chr2 75011147 75011150 VAR_010577 + P52789:p.Leu148Phe chr2 75013175 75013178 VAR_020504 + P52789:p.Arg274Cys chr2 75016011 75016014 VAR_020505 + P52789:p.Ala314Pro chr2 75016011 75016014 VAR_010578 + P52789:p.Ala314Val chr2 75016062 75016065 VAR_020506 + P52789:p.Thr331Ile chr2 75017494 75017497 VAR_010579 + P52789:p.Arg353Cys chr2 75017596 75017599 VAR_020507 + P52789:p.Ala387Ser chr2 75019269 75019272 VAR_010580 + P52789:p.Arg497Gln chr2 75026787 75026790 VAR_010581 + P52789:p.Arg775Gln chr2 75028051 75028054 VAR_020508 + P52789:p.Arg801Gln chr2 75028180 75028183 VAR_010582 + P52789:p.Arg844Lys chr2 75029609 75029612 VAR_020509 + P52789:p.Asp881Asn chr5 176249058 176249061 VAR_034004 - P52790:p.Gly281Arg chr5 176247217 176247220 VAR_036186 - P52790:p.Arg480Trp chr5 176247160 176247163 VAR_036187 - P52790:p.Ala499Val chr7 44001780 44001783 VAR_003692 - P35557:p.Asp4Asn chr7 44001759 44001762 VAR_010583 - P35557:p.Ala11Thr chr7 43966239 43966242 VAR_010584 - P35557:p.Arg36Trp chr7 43966188 43966191 VAR_010585 - P35557:p.Ala53Ser chr7 43965232 43965235 VAR_003694 - P35557:p.Gly80Ala chr7 43965232 43965235 VAR_003695 - P35557:p.Gly80Ser chr7 43965151 43965154 VAR_003696 - P35557:p.Met107Thr chr7 43965148 43965151 VAR_010586 - P35557:p.Tyr108His chr7 43965142 43965145 VAR_012352 - P35557:p.Ile110Thr chr7 43965115 43965118 VAR_012353 - P35557:p.Ala119Asp chr7 43963884 43963887 VAR_003697 - P35557:p.Ser131Pro chr7 43963866 43963869 VAR_010587 - P35557:p.His137Arg chr7 43963827 43963830 VAR_010588 - P35557:p.Phe150Ser chr7 43962894 43962897 VAR_012350 - P35557:p.Leu164Pro chr7 43962882 43962885 VAR_010589 - P35557:p.Thr168Pro chr7 43962861 43962864 VAR_003698 - P35557:p.Gly175Arg chr7 43962840 43962843 VAR_003699 - P35557:p.Val182Met chr7 43962822 43962825 VAR_003700 - P35557:p.Ala188Thr chr7 43962668 43962671 VAR_003701 - P35557:p.Val203Ala chr7 43962650 43962653 VAR_010590 - P35557:p.Thr209Met chr7 43962647 43962650 VAR_012351 - P35557:p.Met210Lys chr7 43962647 43962650 VAR_010591 - P35557:p.Met210Thr chr7 43962638 43962641 VAR_010592 - P35557:p.Cys213Arg chr7 43962614 43962617 VAR_003702 - P35557:p.Glu221Lys chr7 43962599 43962602 VAR_003703 - P35557:p.Val226Met chr7 43960667 43960670 VAR_003705 - P35557:p.Thr228Met chr7 43960583 43960586 VAR_003706 - P35557:p.Glu256Lys chr7 43960580 43960583 VAR_003707 - P35557:p.Trp257Arg chr7 43960574 43960577 VAR_010593 - P35557:p.Ala259Thr chr7 43960568 43960571 VAR_010594 - P35557:p.Gly261Glu chr7 43960568 43960571 VAR_003708 - P35557:p.Gly261Arg chr7 43960514 43960517 VAR_003709 - P35557:p.Glu279Gln chr7 43959423 43959426 VAR_003710 - P35557:p.Gly299Arg chr7 43959420 43959423 VAR_003712 - P35557:p.Glu300Lys chr7 43959420 43959423 VAR_003711 - P35557:p.Glu300Gln chr7 43959393 43959396 VAR_003713 - P35557:p.Leu309Pro chr7 43959312 43959315 VAR_010595 - P35557:p.Ser336Leu chr7 43958487 43958490 VAR_010596 - P35557:p.Val367Met chr7 43958442 43958445 VAR_010597 - P35557:p.Cys382Tyr chr7 43958436 43958439 VAR_010598 - P35557:p.Ala384Thr chr7 43958433 43958436 VAR_012354 - P35557:p.Gly385Val chr7 43958412 43958415 VAR_010599 - P35557:p.Arg392Cys chr7 43958346 43958349 VAR_003714 - P35557:p.Lys414Glu chr7 43958007 43958010 VAR_003715 - P35557:p.Val455Met chr3 50314587 50314590 VAR_023643 - Q12794:p.Glu268Lys chr3 50307698 50307701 VAR_027263 - O43820:p.His113Tyr chr7 22791301 22791304 VAR_030647 - Q9BYI3:p.Leu53Pro chr1 222323291 222323294 VAR_023303 + P07099:p.Arg43Thr chr1 222323294 222323297 VAR_018347 + P07099:p.Glu44Gln chr1 222323309 222323312 VAR_013298 + P07099:p.Arg49Cys chr1 222326367 222326370 VAR_005295 + P07099:p.Tyr113His chr1 222333139 222333142 VAR_005296 + P07099:p.His139Arg chr1 222334319 222334322 VAR_013299 + P07099:p.Leu260Pro chr1 222334394 222334397 VAR_023304 + P07099:p.Val285Leu chr1 222339600 222339603 VAR_005297 + P07099:p.Thr396Ile chr1 222339636 222339639 VAR_023305 + P07099:p.Thr408Met chr1 222339768 222339771 VAR_023306 + P07099:p.Leu452Gln chr1 222339774 222339777 VAR_013300 + P07099:p.Arg454Gln chr8 27417157 27417160 VAR_033991 + P34913:p.Arg103Cys chr8 27429780 27429783 VAR_014852 + P34913:p.Arg287Gln chr8 27450253 27450256 VAR_022613 + P34913:p.Arg403Arg chr1 43586216 43586219 VAR_032611 - Q5T013:p.Asp239Asn chr11 125274563 125274566 VAR_031866 + Q96M11:p.Cys31Arg chr11 125275103 125275106 VAR_031867 + Q96M11:p.Asp211Gly chr15 41881218 41881221 VAR_030335 + Q9NX55:p.Ser151Pro chrX 37606510 37606513 VAR_028810 + O75409:p.Val68Ile chr11 117364419 117364422 VAR_016294 + Q13651:p.Leu61Val chr11 117365514 117365517 VAR_016295 + Q13651:p.Val113Ile chr11 117369272 117369275 VAR_016296 + Q13651:p.Ser159Gly chr11 117370019 117370022 VAR_016297 + Q13651:p.Arg212Gln chr11 117370055 117370058 VAR_020004 + Q13651:p.Ile224Val chr11 117375086 117375089 VAR_016299 + Q13651:p.Ser420Leu chr21 33562657 33562660 VAR_020666 + Q08334:p.Lys47Glu chr9 34646766 34646769 VAR_019821 + Q14626:p.Pro65Thr chr9 34650863 34650866 VAR_019822 + Q14626:p.Arg395Trp chr19 18058624 18058627 VAR_021281 - P42701:p.Pro3Gln chr19 18054057 18054060 VAR_021282 - P42701:p.Pro47Ser chr19 18049406 18049409 VAR_021283 - P42701:p.Arg156His chr19 18047619 18047622 VAR_015577 - P42701:p.Arg213Trp chr19 18047616 18047619 VAR_021284 - P42701:p.Gln214Arg chr19 18043925 18043928 VAR_021285 - P42701:p.His339Gln chr19 18041449 18041452 VAR_011986 - P42701:p.Met365Thr chr19 18041410 18041413 VAR_011987 - P42701:p.Gly378Arg chr1 67498108 67498111 VAR_021278 + Q99665:p.Met13Val chr1 67504518 67504521 VAR_021279 + Q99665:p.Arg149Gln chr1 67505976 67505979 VAR_014805 + Q99665:p.Ile185Val chr1 67506024 67506027 VAR_019525 + Q99665:p.Thr201Ile chr1 67508492 67508495 VAR_019526 + Q99665:p.Arg313Gly chr1 67528792 67528793 VAR_014806 + Q99665:p.Gly420Arg chr1 67545528 67545530 VAR_014806 + Q99665:p.Gly420Arg chr1 67545545 67545548 VAR_014807 + Q99665:p.Gln426His chr1 67545662 67545665 VAR_014808 + Q99665:p.Gly465Asp chr1 67564299 67564302 VAR_016097 + Q99665:p.Ala625Val chr1 67573361 67573364 VAR_019527 + Q99665:p.His720Arg chr1 67573625 67573628 VAR_021280 + Q99665:p.Leu808Arg chrX 114072030 114072033 VAR_021256 - Q14627:p.Trp111Arg chr10 6042372 6042375 VAR_020967 - Q13261:p.Asn182Thr chr22 15963761 15963764 VAR_027966 + Q96F46:p.Ala367Val chr22 15964400 15964403 VAR_027967 + Q96F46:p.Arg580His chr3 53867869 53867872 VAR_019209 + Q9NRM6:p.Phe278Leu chr3 53874216 53874219 VAR_019210 + Q9NRM6:p.Ile451Thr chr3 53874237 53874240 VAR_019211 + Q9NRM6:p.Asn458Ser chr3 53874360 53874363 VAR_019212 + Q9NRM6:p.Cys499Arg chr3 57113457 57113460 VAR_023478 - Q8NFM7:p.Thr255Met chr3 57111622 57111625 VAR_023479 - Q8NFM7:p.Val301Met chr3 9923772 9923775 VAR_036956 + Q8NFR9:p.Tyr219Cys chr3 9928257 9928260 VAR_036957 + Q8NFR9:p.Pro402Ser chr3 9930660 9930663 VAR_036958 + Q8NFR9:p.Ser417Thr chr2 102520293 102520296 VAR_034005 + O95256:p.Val350Ile chr1 153510127 153510130 VAR_038171 - Q9H9L3:p.Asn130Ser chr6 137524531 137524534 VAR_021493 - Q969J5:p.Leu16Pro chr6 137510623 137510626 VAR_021494 - Q969J5:p.Glu190Lys chr10 134309376 134309379 VAR_034006 + Q14642:p.Lys45Arg chr12 21422513 21422516 VAR_012080 + P10997:p.Ser53Gly chr2 217324160 217324163 VAR_018871 + P18065:p.Ala140Asp chr7 45733958 45733961 VAR_036279 - P17936:p.Thr7Met chr7 45733883 45733886 VAR_025262 - P17936:p.Ala32Gly chr7 45733811 45733814 VAR_025263 - P17936:p.Ala56Thr chr7 45730207 45730210 VAR_021974 - P17936:p.His158Pro chr7 45729434 45729437 VAR_025264 - P17936:p.Gly234Ser chr7 45727778 45727781 VAR_036280 - P17936:p.Arg252Cys chr17 35853636 35853639 VAR_011906 + P22692:p.Val42Gly chr2 217369231 217369234 VAR_019284 - P24593:p.Arg138Trp chr12 51780809 51780812 VAR_018932 + P24592:p.Arg128Gly chr12 51782143 51782146 VAR_020159 + P24592:p.Arg217Leu chr12 51782143 51782146 VAR_018933 + P24592:p.Arg217Gln chr12 51782200 51782203 VAR_011907 + P24592:p.Thr236Pro chr4 57817412 57817415 VAR_018959 - Q16270:p.Leu11Phe chr11 57123990 57123993 VAR_027374 + P05155:p.Asp39Glu chr11 57124041 57124044 VAR_027375 + P05155:p.Val56Ala chr11 57124263 57124266 VAR_027379 + P05155:p.Cys130Tyr chr11 57130189 57130192 VAR_007012 + P05155:p.273del chr11 57130488 57130491 VAR_011751 + P05155:p.Thr308Ser chr11 57138417 57138420 VAR_027380 + P05155:p.Thr394Pro chr19 10246538 10246541 VAR_010204 + P05362:p.Lys56Met chr19 10255287 10255290 VAR_014651 + P05362:p.Lys155Asn chr19 10255791 10255794 VAR_014186 + P05362:p.Gly241Arg chr19 10256095 10256098 VAR_014652 + P05362:p.Val315Met chr19 10256206 10256209 VAR_014653 + P05362:p.Pro352Leu chr19 10256466 10256469 VAR_014654 + P05362:p.Arg397Gln chr19 10256682 10256685 VAR_014187 + P05362:p.Lys469Glu chr19 10256795 10256798 VAR_016267 + P05362:p.Arg478Trp chr17 59436415 59436418 VAR_014655 - P13598:p.Ala37Thr chr17 59434787 59434790 VAR_014656 - P13598:p.Arg199His chr17 59433898 59433901 VAR_021920 - P13598:p.Arg256Gln chr19 10305601 10305604 VAR_024498 - P32942:p.Ser525Thr chr19 10258985 10258988 VAR_003912 + Q14773:p.Gln100Arg chr19 10259438 10259441 VAR_038721 + Q14773:p.Val208Leu chr11 77026347 77026350 VAR_015736 - P54105:p.Gln20His chr11 77008380 77008383 VAR_015737 - P54105:p.Met218Thr chr17 70520397 70520400 VAR_020045 + Q14197:p.Arg8Pro chr17 70527394 70527397 VAR_024604 + Q14197:p.Leu77Phe chr1 23630783 23630786 VAR_030739 - Q02535:p.Ser111Ala chr22 17401165 17401168 VAR_020046 - P98153:p.Val473Ala chr20 2592825 2592828 VAR_022660 - O43837:p.Ala3Val chr2 208938616 208938619 VAR_036013 - O75874:p.Arg132Cys chrX 148291561 148291564 VAR_026915 - P22304:p.Leu41Pro chrX 148291561 148291564 VAR_026914 - P22304:p.41del chrX 148291549 148291552 VAR_007313 - P22304:p.Asp45Asn chrX 148291540 148291543 VAR_007314 - P22304:p.Arg48Pro chrX 148291522 148291525 VAR_007315 - P22304:p.Tyr54Asp chrX 148291495 148291498 VAR_007316 - P22304:p.Asn63Asp chrX 148291480 148291483 VAR_007317 - P22304:p.Ala68Glu chrX 148291471 148291474 VAR_026916 - P22304:p.Ser71Asn chrX 148291471 148291474 VAR_008998 - P22304:p.Ser71Arg chrX 148291465 148291468 VAR_026917 - P22304:p.Leu73Phe chrX 148291447 148291450 VAR_007318 - P22304:p.Ala79Glu chrX 148290772 148290775 VAR_008999 - P22304:p.Ala82Glu chrX 148290772 148290775 VAR_026918 - P22304:p.Ala82Val chrX 148290763 148290766 VAR_026919 - P22304:p.Ala85Ser chrX 148290763 148290766 VAR_007319 - P22304:p.Ala85Thr chrX 148290760 148290763 VAR_007320 - P22304:p.Pro86Leu chrX 148290760 148290763 VAR_007321 - P22304:p.Pro86Gln chrX 148290760 148290763 VAR_007322 - P22304:p.Pro86Arg chrX 148290757 148290760 VAR_007323 - P22304:p.Ser87Asn chrX 148290754 148290757 VAR_007324 - P22304:p.Arg88Cys chrX 148290754 148290757 VAR_026920 - P22304:p.Arg88Gly chrX 148290754 148290757 VAR_007325 - P22304:p.Arg88His chrX 148290754 148290757 VAR_007326 - P22304:p.Arg88Leu chrX 148290754 148290757 VAR_007327 - P22304:p.Arg88Pro chrX 148290751 148290754 VAR_026921 - P22304:p.Val89Phe chrX 148290742 148290745 VAR_007328 - P22304:p.Leu92Pro chrX 148290736 148290739 VAR_007329 - P22304:p.Gly94Asp chrX 148290733 148290736 VAR_026922 - P22304:p.Arg95Gly chrX 148290733 148290736 VAR_026923 - P22304:p.Arg95Thr chrX 148290733 148290736 VAR_009000 - P22304:p.95del chrX 148290712 148290715 VAR_007330 - P22304:p.Leu102Arg chrX 148290694 148290697 VAR_007331 - P22304:p.Tyr108Cys chrX 148290694 148290697 VAR_026924 - P22304:p.Tyr108Ser chrX 148290673 148290676 VAR_007332 - P22304:p.Asn115Tyr chrX 148290667 148290670 VAR_026926 - P22304:p.Ser117Tyr chrX 148290667 148290670 VAR_026925 - P22304:p.117del chrX 148290664 148290667 VAR_007333 - P22304:p.Thr118Ile chrX 148290664 148290667 VAR_026927 - P22304:p.118del chrX 148290658 148290661 VAR_007334 - P22304:p.Pro120His chrX 148290658 148290661 VAR_007335 - P22304:p.Pro120Arg chrX 148290655 148290658 VAR_026928 - P22304:p.Gln121His chrX 148290655 148290658 VAR_026929 - P22304:p.Gln121Arg chrX 148290643 148290646 VAR_007336 - P22304:p.Glu125Val chrX 148290622 148290625 VAR_007337 - P22304:p.Ser132Trp chrX 148290616 148290619 VAR_007338 - P22304:p.Gly134Arg chrX 148290613 148290616 VAR_007339 - P22304:p.Lys135Asn chrX 148290613 148290616 VAR_007340 - P22304:p.Lys135Arg chrX 148290604 148290607 VAR_026930 - P22304:p.His138Asp chrX 148288325 148288327 VAR_026931 - P22304:p.Gly140Val chrX 148290600 148290601 VAR_026931 - P22304:p.Gly140Val chrX 148288316 148288319 VAR_007341 - P22304:p.Ser143Phe chrX 148288301 148288304 VAR_026932 - P22304:p.Asp148His chrX 148288268 148288271 VAR_007342 - P22304:p.His159Pro chrX 148288268 148288271 VAR_007343 - P22304:p.159del chrX 148288265 148288268 VAR_007344 - P22304:p.Pro160Arg chrX 148285561 148285564 VAR_026933 - P22304:p.Asn181Ile chrX 148285558 148285561 VAR_026934 - P22304:p.Leu182Pro chrX 148285552 148285555 VAR_007345 - P22304:p.Cys184Phe chrX 148285552 148285555 VAR_007346 - P22304:p.Cys184Trp chrX 148285516 148285519 VAR_007347 - P22304:p.Leu196Ser chrX 148285510 148285513 VAR_007348 - P22304:p.Asp198Gly chrX 148285489 148285492 VAR_026935 - P22304:p.Ala205Pro chrX 148285441 148285444 VAR_007349 - P22304:p.Leu221Pro chrX 148285432 148285435 VAR_007350 - P22304:p.Gly224Glu chrX 148285429 148285432 VAR_007351 - P22304:p.Tyr225Asp chrX 148285423 148285426 VAR_026936 - P22304:p.Lys227Met chrX 148285423 148285426 VAR_007352 - P22304:p.Lys227Gln chrX 148285420 148285423 VAR_007353 - P22304:p.Pro228Leu chrX 148285420 148285423 VAR_026937 - P22304:p.Pro228Thr chrX 148285417 148285420 VAR_026938 - P22304:p.His229Arg chrX 148285417 148285420 VAR_007354 - P22304:p.His229Tyr chrX 148285411 148285414 VAR_026939 - P22304:p.Pro231Leu chrX 148283758 148283761 VAR_007355 - P22304:p.Asp252Asn chrX 148283737 148283740 VAR_026940 - P22304:p.Leu259Pro chrX 148283722 148283725 VAR_009001 - P22304:p.Tyr264Asn chrX 148283719 148283722 VAR_026941 - P22304:p.Asn265Ile chrX 148283716 148283719 VAR_007356 - P22304:p.Pro266His chrX 148283716 148283719 VAR_007357 - P22304:p.Pro266Arg chrX 148283707 148283710 VAR_007358 - P22304:p.Asp269Val chrX 148283635 148283638 VAR_007359 - P22304:p.Gln293His chrX 148277712 148277715 VAR_026942 - P22304:p.Ser299Ile chrX 148277685 148277688 VAR_026943 - P22304:p.Asp308Glu chrX 148277685 148277688 VAR_026944 - P22304:p.Asp308Asn chrX 148277682 148277685 VAR_026945 - P22304:p.Thr309Ala chrX 148277670 148277673 VAR_026946 - P22304:p.Arg313Cys chrX 148277667 148277670 VAR_026947 - P22304:p.Leu314Pro chrX 148277610 148277613 VAR_007360 - P22304:p.Ser333Leu chrX 148277607 148277610 VAR_009002 - P22304:p.Asp334Gly chrX 148277607 148277610 VAR_026948 - P22304:p.Asp334Asn chrX 148277604 148277607 VAR_026949 - P22304:p.His335Arg chrX 148274386 148274388 VAR_026950 - P22304:p.Gly336Glu chrX 148277603 148277604 VAR_026950 - P22304:p.Gly336Glu chrX 148274386 148274388 VAR_026951 - P22304:p.Gly336Arg chrX 148277603 148277604 VAR_026951 - P22304:p.Gly336Arg chrX 148274383 148274386 VAR_007361 - P22304:p.Trp337Arg chrX 148274377 148274380 VAR_026952 - P22304:p.Leu339Arg chrX 148274374 148274377 VAR_007362 - P22304:p.Gly340Asp chrX 148274371 148274374 VAR_008134 - P22304:p.Glu341Lys chrX 148274368 148274371 VAR_008135 - P22304:p.His342Tyr chrX 148274359 148274362 VAR_007363 - P22304:p.Trp345Cys chrX 148274356 148274359 VAR_007364 - P22304:p.Ala346Asp chrX 148274356 148274359 VAR_007365 - P22304:p.Ala346Val chrX 148274353 148274356 VAR_007366 - P22304:p.Lys347Ile chrX 148274353 148274356 VAR_026953 - P22304:p.Lys347Gln chrX 148274353 148274356 VAR_007367 - P22304:p.Lys347Thr chrX 148274350 148274353 VAR_007368 - P22304:p.Tyr348His chrX 148274347 148274350 VAR_007369 - P22304:p.Ser349Ile chrX 148274320 148274323 VAR_007370 - P22304:p.Pro358Arg chrX 148270479 148270482 VAR_007371 - P22304:p.Leu403Arg chrX 148270458 148270461 VAR_026954 - P22304:p.Leu410Pro chrX 148270422 148270425 VAR_007372 - P22304:p.Cys422Gly chrX 148270422 148270425 VAR_026955 - P22304:p.Cys422Arg chrX 148270392 148270395 VAR_007373 - P22304:p.Cys432Tyr chrX 148270386 148270389 VAR_007374 - P22304:p.Glu434Lys chrX 148270293 148270296 VAR_009003 - P22304:p.Gln465Pro chrX 148270287 148270290 VAR_026956 - P22304:p.Pro467Leu chrX 148270284 148270287 VAR_007375 - P22304:p.Arg468Gly chrX 148270284 148270287 VAR_007376 - P22304:p.Arg468Leu chrX 148270284 148270287 VAR_007377 - P22304:p.Arg468Gln chrX 148270284 148270287 VAR_007378 - P22304:p.Arg468Trp chrX 148270281 148270284 VAR_007379 - P22304:p.Pro469His chrX 148270254 148270257 VAR_007380 - P22304:p.Asp478Gly chrX 148270254 148270257 VAR_007381 - P22304:p.Asp478Tyr chrX 148270248 148270251 VAR_026957 - P22304:p.Pro480Leu chrX 148270248 148270251 VAR_026958 - P22304:p.Pro480Gln chrX 148270248 148270251 VAR_026959 - P22304:p.Pro480Arg chrX 148270233 148270236 VAR_007382 - P22304:p.Ile485Lys chrX 148270233 148270236 VAR_007383 - P22304:p.Ile485Arg chrX 148270221 148270227 VAR_026960 - P22304:p.Met488_Gly489delinsIleAla chrX 148270218 148270221 VAR_026961 - P22304:p.Tyr490Ser chrX 148270215 148270218 VAR_008136 - P22304:p.Ser491Phe chrX 148270182 148270185 VAR_007384 - P22304:p.Trp502Cys chrX 148270182 148270185 VAR_007385 - P22304:p.Trp502Ser chrX 148270125 148270128 VAR_026962 - P22304:p.Glu521Lys chrX 148270125 148270128 VAR_007386 - P22304:p.Glu521Val chrX 148270119 148270122 VAR_007387 - P22304:p.Tyr523Cys chr4 984555 984567 VAR_003349 + P35475:p.16_19del chr4 985337 985340 VAR_020975 + P35475:p.Ala79Val chr4 986390 986393 VAR_003359 + P35475:p.Val279Ala chr4 986691 986697 VAR_003363 + P35475:p.349_350del chr4 987630 987633 VAR_003371 + P35475:p.445del chr4 987909 987912 VAR_003373 + P35475:p.Arg489Pro chr1 177789968 177789971 VAR_028404 + Q5VY09:p.Arg92His chr1 177790196 177790199 VAR_028405 + Q5VY09:p.Val168Ile chr1 177790274 177790277 VAR_028406 + Q5VY09:p.Arg194Gly chr1 177790298 177790301 VAR_028407 + Q5VY09:p.Gln202Arg chr1 177790547 177790550 VAR_028408 + Q5VY09:p.Pro285Ser chrX 23835517 23835520 VAR_002352 + P41091:p.Lys125Arg chr3 187986677 187986680 VAR_035838 + Q14240:p.Val181Leu chr1 21013296 21013299 VAR_034009 - O43432:p.Pro496Ala chr3 172108171 172108174 VAR_027943 - Q9GZV4:p.Glu42Asp chr14 102877097 102877100 VAR_036467 + P55010:p.Lys418Met chr14 93652572 93652575 VAR_028066 + P40305:p.Ser106Phe chr2 162963488 162963491 VAR_031226 - Q9BYX4:p.His460Arg chr2 162954329 162954332 VAR_021594 - Q9BYX4:p.His843Arg chr2 162949555 162949558 VAR_021595 - Q9BYX4:p.Ala946Thr chr9 21196970 21196973 VAR_029227 - P01566:p.Gly42Ala chr9 21217620 21217623 VAR_013020 - P01571:p.Ile184Arg chr9 21430533 21430536 VAR_024508 + P01562:p.Val10Ala chr9 21430914 21430917 VAR_013000 + P01562:p.Ala137Val chr9 21430992 21430995 VAR_025173 + P01562:p.Ala163Gly chr9 21177383 21177386 VAR_034010 - P05014:p.His49Pro chr9 21177308 21177311 VAR_013002 - P05014:p.Ala74Thr chr9 21177143 21177146 VAR_034011 - P05014:p.Val129Met chr9 21177119 21177122 VAR_013003 - P05014:p.Glu137Val chr9 21399583 21399586 VAR_021975 + P32881:p.Glu137Lys chr9 21067382 21067385 VAR_004016 - P01574:p.Cys162Tyr chr9 21067376 21067379 VAR_036330 - P01574:p.Trp164Cys chr12 66839575 66839578 VAR_004017 - P01579:p.Lys29Gln chr12 66835420 66835423 VAR_004018 - P01579:p.Arg160Gln chr9 27514622 27514625 VAR_032710 + Q9P0W0:p.Ile97Asn chr9 21131284 21131287 VAR_020028 - P05000:p.Arg95Ser chr3 50300640 50300643 VAR_029302 - Q12894:p.Arg438Gln chr11 59369433 59369436 VAR_022742 - P27352:p.Gln23Arg chr11 59368045 59368048 VAR_022743 - P27352:p.Ser46Leu chr11 59361328 59361331 VAR_022744 - P27352:p.Asn255Ser chr11 2124061 2124064 VAR_024844 + Q6U949:p.Ser106Ile chr11 2124079 2124082 VAR_024845 + Q6U949:p.Pro112Thr chr11 2124118 2124121 VAR_024846 + Q6U949:p.Phe125Val chr11 2124193 2124196 VAR_024847 + Q6U949:p.Thr150Ala chr12 101314089 101314092 VAR_013945 - P05019:p.Ala187Asp chr15 97068531 97068534 VAR_041424 + P08069:p.Val105Leu chr15 97068630 97068633 VAR_034891 + P08069:p.Arg138Gln chr15 97068651 97068654 VAR_034892 + P08069:p.Lys145Asn chr15 97260287 97260290 VAR_018855 + P08069:p.Val388Met chr15 97269497 97269500 VAR_034893 + P08069:p.Arg437His chr15 97272134 97272137 VAR_034894 + P08069:p.Arg511Gln chr15 97273988 97273991 VAR_041425 + P08069:p.Arg595His chr15 97274018 97274021 VAR_018856 + P08069:p.Arg605His chr15 97282912 97282915 VAR_034895 + P08069:p.Arg739Gln chr15 97283119 97283122 VAR_034896 + P08069:p.His808Arg chr15 97283179 97283182 VAR_034897 + P08069:p.Ala828Thr chr15 97284710 97284713 VAR_041426 + P08069:p.Asn857Ser chr15 97318101 97318104 VAR_041427 + P08069:p.Ala1338Thr chr15 97318128 97318131 VAR_041428 + P08069:p.Ala1347Val chr11 2110975 2110978 VAR_011959 - P01344:p.Lys120Asn chr11 2110816 2110819 VAR_011960 - P01344:p.Pro173Gln chr11 2110795 2110798 VAR_011961 - P01344:p.Lys180Asn chr19 51319134 51319137 VAR_034012 - Q6UXB1:p.Thr66Ser chr22 22240222 22240225 VAR_034869 - P15814:p.Pro142Leu chr3 152654212 152654215 VAR_032179 - Q6WRI0:p.Thr124Ile chr3 152654134 152654137 VAR_032180 - Q6WRI0:p.Tyr150Asp chr3 152648753 152648756 VAR_032181 - Q6WRI0:p.Pro571Ser chr3 152646869 152646872 VAR_032182 - Q6WRI0:p.Ser1199Ala chr3 152646356 152646359 VAR_032183 - Q6WRI0:p.Thr1370Ile chr3 152643807 152643810 VAR_032184 - Q6WRI0:p.Tyr1875His chr3 152637618 152637621 VAR_032185 - Q6WRI0:p.Arg2476Trp chr3 152637309 152637312 VAR_032186 - Q6WRI0:p.His2579Tyr chr3 120104353 120104356 VAR_038517 - Q5DX21:p.Glu333Asp chr1 18450120 18450123 VAR_035518 + Q96ID5:p.Thr467Met chr11 18699753 18699756 VAR_032000 - Q8N9C0:p.Ala94Pro chr11 18698396 18698399 VAR_032001 - Q8N9C0:p.Leu130Arg chr11 18694854 18694857 VAR_032002 - Q8N9C0:p.Val414Ile chr11 18693669 18693672 VAR_032003 - Q8N9C0:p.Arg472Gln chr11 18693576 18693579 VAR_032004 - Q8N9C0:p.Ser503Ile chr11 18692520 18692523 VAR_032005 - Q8N9C0:p.Met559Val chr11 18692038 18692041 VAR_032006 - Q8N9C0:p.Leu677Phe chr1 117266461 117266464 VAR_028371 + Q93033:p.Asn225Ser chr1 117272076 117272079 VAR_028373 + Q93033:p.Arg518Gln chr1 117272097 117272100 VAR_028374 + Q93033:p.Ser525Arg chr1 117288591 117288594 VAR_028375 + Q93033:p.Val965Ile chr1 117288660 117288663 VAR_028376 + Q93033:p.Arg988Cys chr2 219750556 219750559 VAR_015981 - Q14623:p.Pro46Leu chr2 219750409 219750412 VAR_015982 - Q14623:p.Glu95Lys chr2 219750394 219750397 VAR_015983 - Q14623:p.Asp100Glu chr2 219750394 219750397 VAR_015984 - Q14623:p.Asp100Asn chr2 219747843 219747846 VAR_015985 - Q14623:p.Glu131Lys chr2 219747666 219747669 VAR_015986 - Q14623:p.Val190Ala chr19 48914952 48914955 VAR_032008 + Q6NXR0:p.Asp135Asn chr19 44091255 44091258 VAR_020771 + Q15653:p.Arg339Trp chr8 42293531 42293534 VAR_035626 + O14920:p.Ala360Ser chr8 42293558 42293561 VAR_040567 + O14920:p.Gln369Arg chr8 42296318 42296321 VAR_040568 + O14920:p.Arg526Gln chr8 42297490 42297493 VAR_021124 + O14920:p.Arg554Trp chr8 42305811 42305814 VAR_040569 + O14920:p.Ala710Thr chr8 42305883 42305886 VAR_040570 + O14920:p.Phe734Leu chr1 203037941 203037944 VAR_038816 + Q14164:p.Glu128Lys chr1 203040798 203040801 VAR_038817 + Q14164:p.Ala371Thr chr1 203046747 203046750 VAR_040571 + Q14164:p.Thr483Met chr1 203046964 203046967 VAR_038818 + Q14164:p.Glu515Asp chr1 203049655 203049658 VAR_038819 + Q14164:p.Ile543Met chr1 203053445 203053448 VAR_038820 + Q14164:p.Ala602Val chr1 203055038 203055041 VAR_040572 + Q14164:p.Gly660Glu chr1 203057858 203057861 VAR_019989 + Q14164:p.Pro713Leu chr1 203334130 203334133 VAR_015883 - P22301:p.Gly15Arg chr19 60571494 60571497 VAR_016313 - P20809:p.Val108Met chr19 60571482 60571485 VAR_016314 - P20809:p.Arg112His chr5 158682904 158682907 VAR_020001 - P29460:p.Val33Ile chr15 79379386 79379389 VAR_019203 + Q14005:p.Arg188Gln chr15 79379437 79379440 VAR_019204 + Q14005:p.Ser205Leu chr15 79379800 79379803 VAR_034013 + Q14005:p.Ser326Thr chr15 79385321 79385324 VAR_019205 + Q14005:p.Asn446Lys chr2 102461977 102461978 VAR_014955 + Q13478:p.317del chr2 102465033 102465035 VAR_014955 + Q13478:p.317del chr1 203404350 203404353 VAR_013077 + Q9UHD0:p.Phe175Ser chr2 113255475 113255478 VAR_014304 - P01583:p.Arg85Gln chr2 113253451 113253454 VAR_014305 - P01583:p.Ala114Ser chr2 113253418 113253421 VAR_014600 - P01583:p.Asn125Asp chr2 113253379 113253382 VAR_014306 - P01583:p.Asp138Asn chr2 113251881 113251884 VAR_014601 - P01583:p.Asp176His chr2 113535954 113535957 VAR_023239 + Q9UBH0:p.Asn47Ser chr2 113479804 113479807 VAR_024504 + Q9UHA7:p.Gln12Arg chr2 113480467 113480470 VAR_025055 + Q9UHA7:p.Ile63Thr chr2 113481774 113481777 VAR_025056 + Q9UHA7:p.Gly134Arg chr2 113387607 113387610 VAR_014260 + Q9NZH6:p.Gly31Val chr2 113387640 113387643 VAR_014261 + Q9NZH6:p.Thr42Ala chr2 113391498 113391501 VAR_023334 + Q9NZH6:p.Pro108Leu chr2 113392413 113392416 VAR_023335 + Q9NZH6:p.Arg152Trp chr2 113392449 113392452 VAR_023336 + Q9NZH6:p.Trp164Arg chr2 113392611 113392614 VAR_023337 + Q9NZH6:p.Asp218Asn chr2 113504868 113504871 VAR_025057 - Q9NZH7:p.Arg36Cys chr2 113453860 113453863 VAR_024505 + Q9NZH8:p.Gln69Lys chr2 113548541 113548544 VAR_014262 + Q8WWZ1:p.Ile44Thr chr2 113548562 113548565 VAR_014263 + Q8WWZ1:p.Ala51Asp chr2 102240165 102240168 VAR_019131 + P14778:p.Ala124Gly chr2 102249602 102249605 VAR_029189 + P14778:p.Thr344Met chr2 102094644 102094647 VAR_019132 + P27930:p.Glu181Lys chr2 102099634 102099637 VAR_019133 + P27930:p.Glu292Lys chr16 27363426 27363429 VAR_014360 + Q9HBE5:p.Arg191Cys chr16 27367439 27367442 VAR_014361 + Q9HBE5:p.Ser318Arg chr16 27367937 27367940 VAR_014362 + Q9HBE5:p.Gly484Ser chr12 66928911 66928914 VAR_013078 - Q9GZX6:p.Ser158Gly chr1 67345830 67345833 VAR_029752 + Q5VWK5:p.Gln3His chr1 67417977 67417980 VAR_029754 + Q5VWK5:p.Arg381Gln chr1 203463299 203463302 VAR_011974 + Q13007:p.Tyr124His chr1 203463302 203463305 VAR_013097 + Q13007:p.His125Arg chr1 203463320 203463323 VAR_013098 + Q13007:p.Val131Leu chr19 4187995 4187998 VAR_024342 + Q14213:p.Val201Ile chr19 44480954 44480957 VAR_024506 + Q8IU54:p.Asn188Asp chr10 6094843 6094846 VAR_019280 - P01589:p.Ile272Thr chr22 35863006 35863009 VAR_021994 - P14784:p.Ser83Phe chr22 35849118 35849121 VAR_019998 - P14784:p.Asp391Glu chrX 70113850 70113853 VAR_002669 - P31785:p.Cys62Gly chrX 70113832 70113835 VAR_002670 - P31785:p.Glu68Gly chrX 70113832 70113835 VAR_002671 - P31785:p.Glu68Lys chrX 70113784 70113787 VAR_002672 - P31785:p.Asn84Lys chrX 70113769 70113772 VAR_002673 - P31785:p.Tyr89Cys chrX 70113513 70113516 VAR_002674 - P31785:p.Tyr105Cys chrX 70113501 70113504 VAR_020611 - P31785:p.Glu109Lys chrX 70113486 70113489 VAR_002675 - P31785:p.Gly114Asp chrX 70113483 70113486 VAR_002676 - P31785:p.Cys115Phe chrX 70113483 70113486 VAR_002677 - P31785:p.Cys115Arg chrX 70113459 70113462 VAR_002678 - P31785:p.His123Pro chrX 70113453 70113456 VAR_002679 - P31785:p.Tyr125Asn chrX 70113396 70113399 VAR_002680 - P31785:p.Gln144Pro chrX 70113161 70113164 VAR_002681 - P31785:p.Ile153Asn chrX 70113152 70113155 VAR_002682 - P31785:p.Ala156Val chrX 70113134 70113137 VAR_002683 - P31785:p.Leu162His chrX 70113104 70113107 VAR_002684 - P31785:p.Leu172Pro chrX 70113104 70113107 VAR_002685 - P31785:p.Leu172Gln chrX 70113074 70113077 VAR_002686 - P31785:p.Cys182Arg chrX 70113071 70113074 VAR_002687 - P31785:p.Leu183Ser chrX 70112189 70112192 VAR_002688 - P31785:p.Arg222Cys chrX 70112183 70112186 VAR_002689 - P31785:p.Arg224Trp chrX 70112177 70112180 VAR_002690 - P31785:p.Arg226Cys chrX 70112177 70112180 VAR_002691 - P31785:p.Arg226His chrX 70112174 70112177 VAR_002692 - P31785:p.Phe227Cys chrX 70112165 70112168 VAR_002693 - P31785:p.Leu230Pro chrX 70112162 70112165 VAR_002694 - P31785:p.Cys231Tyr chrX 70112159 70112162 VAR_002695 - P31785:p.Gly232Arg chrX 70112144 70112147 VAR_002696 - P31785:p.Trp237Trp chrX 70112135 70112138 VAR_002697 - P31785:p.Trp240Cys chrX 70112132 70112135 VAR_002698 - P31785:p.Ser241Ile chrX 70111513 70111516 VAR_002699 - P31785:p.Met270Arg chrX 70111192 70111195 VAR_002702 - P31785:p.Leu293Gln chr4 123735137 123735140 VAR_003967 - P60568:p.21del chr4 123735134 123735137 VAR_003968 - P60568:p.22del chr16 3059105 3059108 VAR_005506 + P24001:p.Asp152Asn chrX 1504519 1504522 VAR_021113 + P26951:p.Ala12Thr chrX 1511195 1511198 VAR_021114 + P26951:p.Glu77Gly chrX 1514887 1514890 VAR_021115 + P26951:p.Ser123Thr chrX 1541470 1541473 VAR_021116 + P26951:p.Val323Leu chr22 35650942 35650945 VAR_042521 + P32927:p.Glu249Gln chr22 35658156 35658159 VAR_014801 + P32927:p.Pro603Thr chr22 35658288 35658291 VAR_014802 + P32927:p.Gly647Val chr22 35658303 35658306 VAR_014803 + P32927:p.Val652Met chr22 35658435 35658438 VAR_042522 + P32927:p.Pro696Ser chr5 131424304 131424307 VAR_034014 + P08700:p.Arg3Cys chr5 131424340 131424343 VAR_013071 + P08700:p.Arg15His chr5 131424376 131424379 VAR_013072 + P08700:p.Pro27Ser chr5 131424573 131424576 VAR_034015 + P08700:p.Asn60Ser chr16 27263703 27263706 VAR_008034 + P24394:p.Ile75Val chr16 27281332 27281335 VAR_019999 + P24394:p.Ser387Leu chr16 27281371 27281374 VAR_011657 + P24394:p.Glu400Ala chr16 27281464 27281467 VAR_011658 + P24394:p.Cys431Arg chr16 27281479 27281482 VAR_011659 + P24394:p.Ser436Leu chr16 27281680 27281683 VAR_011660 + P24394:p.Ser503Pro chr16 27281899 27281902 VAR_008035 + P24394:p.Gln576Arg chr16 27281908 27281911 VAR_011661 + P24394:p.Val579Ile chr16 27282196 27282199 VAR_020000 + P24394:p.Pro675Ser chr16 27282427 27282430 VAR_011662 + P24394:p.Ser752Ala chr16 27282529 27282532 VAR_011663 + P24394:p.Ser786Pro chr5 132037719 132037722 VAR_020392 + P05112:p.Cys27Arg chr3 3114954 3114957 VAR_020654 - Q01344:p.Ile129Val chr3 3112051 3112054 VAR_020655 - Q01344:p.Val262Ala chr1 151240041 151240044 VAR_021995 + P08887:p.Asp358Ala chr7 22540376 22540379 VAR_013075 + P05231:p.Pro32Ser chr7 22544276 22544279 VAR_029266 + P05231:p.Asp162Glu chr7 22544276 22544279 VAR_013076 + P05231:p.Asp162Val chrX 154796861 154796864 VAR_038784 + Q01113:p.Arg63Lys chrX 154798781 154798784 VAR_014804 + Q01113:p.Glu239Gln chrX 154799531 154799534 VAR_033920 + Q01113:p.Tyr288Cys chr5 135256062 135256065 VAR_013079 - P15248:p.Thr117Met chr19 10642793 10642796 VAR_022159 + Q12906:p.Asp50His chr2 102413984 102413987 VAR_023749 + Q01638:p.Ala78Glu chr2 102300937 102300940 VAR_025259 + Q9HB29:p.Val352Ile chr2 102310224 102310227 VAR_025260 + Q9HB29:p.Leu550Pro chr17 63468852 63468855 VAR_013137 + P52292:p.Pro165Arg chr17 63471021 63471024 VAR_014453 + P52292:p.Thr430Pro chr13 49183057 49183060 VAR_014454 - O00505:p.Pro291Ser chr2 86312479 86312482 VAR_021530 - Q16891:p.Pro124Ser chr17 41278418 41278421 VAR_038048 + Q8IUH8:p.Arg123Gln chr17 41278958 41278961 VAR_038049 + Q8IUH8:p.His303Arg chr17 41279432 41279435 VAR_038050 + Q8IUH8:p.Arg461Pro chr17 41279462 41279465 VAR_038051 + Q8IUH8:p.Ile471Val chr17 41279852 41279855 VAR_038052 + Q8IUH8:p.Ser601Pro chr17 41279909 41279912 VAR_038053 + Q8IUH8:p.Gly620Arg chr17 41279978 41279981 VAR_038054 + Q8IUH8:p.Pro643Arg chr6 76717268 76717271 VAR_027793 - Q17R60:p.His518Asp chr6 76697520 76697523 VAR_027794 - Q17R60:p.Arg704Trp chr1 61965503 61965506 VAR_027988 + Q8NI35:p.Gly303Arg chr1 61969055 61969058 VAR_027989 + Q8NI35:p.Glu362Ala chr1 61973188 61973191 VAR_027990 + Q8NI35:p.Ile400Val chr1 62000748 62000751 VAR_027991 + Q8NI35:p.Gln599His chr1 62033839 62033842 VAR_022695 + Q8NI35:p.Cys744Arg chr1 62039255 62039258 VAR_027992 + Q8NI35:p.Glu779Lys chr1 62039258 62039261 VAR_027993 + Q8NI35:p.Glu780Lys chr1 62042098 62042101 VAR_027994 + Q8NI35:p.Ile870Met chr1 62092318 62092321 VAR_027995 + Q8NI35:p.Gly1178Ser chr1 62168033 62168036 VAR_027996 + Q8NI35:p.Arg1282His chr1 62228703 62228706 VAR_027997 + Q8NI35:p.Val1360Leu chr1 62291793 62291796 VAR_027998 + Q8NI35:p.Ala1504Pro chr21 33637568 33637571 VAR_002717 + P17181:p.Val168Leu chr21 33643396 33643399 VAR_020502 + P17181:p.Val307Ile chr21 33643650 33643653 VAR_020503 + P17181:p.Thr359Met chr21 33536118 33536121 VAR_020521 + P48551:p.Phe8Ser chr21 33536124 33536127 VAR_020522 + P48551:p.Phe10Val chr21 33546881 33546884 VAR_020523 + P48551:p.Ile196Val chr7 120185197 120185200 VAR_021263 + Q9NXR8:p.Asp20Gly chr6 137569809 137569812 VAR_019281 - P15260:p.Val61Ile chr6 137569107 137569110 VAR_017577 - P15260:p.Cys77Tyr chr6 137569077 137569080 VAR_017578 - P15260:p.Ile87Thr chr6 137569032 137569044 VAR_017579 - P15260:p.99_102del chr6 137561325 137561328 VAR_019282 - P15260:p.His335Pro chr6 137560929 137560932 VAR_019283 - P15260:p.Leu467Pro chr21 33709162 33709165 VAR_020003 + P38484:p.Thr58Arg chr21 33709180 33709183 VAR_002718 + P38484:p.Gln64Arg chr21 33721086 33721089 VAR_021383 + P38484:p.Glu147Lys chr21 33721149 33721152 VAR_023281 + P38484:p.Thr168Asn chr21 33721191 33721194 VAR_021384 + P38484:p.Lys182Glu chr21 33726455 33726482 VAR_023282 + P38484:p.222_230del chr2 220265330 220265333 VAR_034016 + P05111:p.Gly227Arg chr2 220265420 220265423 VAR_015110 + P05111:p.Ala257Thr chr12 56129976 56129979 VAR_024230 + P55103:p.Arg322Gln chr12 56135769 56135772 VAR_036198 + P58166:p.Arg62Thr chr12 56136487 56136490 VAR_036199 + P58166:p.Gln215His chr2 191061115 191061118 VAR_019669 + P49441:p.Thr228Ala chr11 15213759 15213762 VAR_027852 + Q1MX18:p.Gln450Arg chr7 154527721 154527724 VAR_027683 + O15503:p.Ala27Thr chr19 17793243 17793246 VAR_013231 - P51460:p.Ala24Gly chr19 17793186 17793189 VAR_013232 - P51460:p.Val43Leu chr19 17793168 17793171 VAR_013233 - P51460:p.Pro49Ser chr19 17788779 17788782 VAR_013235 - P51460:p.Pro93Leu chr19 17788752 17788755 VAR_013236 - P51460:p.Arg102Cys chr19 17788752 17788755 VAR_013237 - P51460:p.Arg102His chr19 17788728 17788731 VAR_017122 - P51460:p.Asn110Lys chr9 5175362 5175365 VAR_024329 - Q9Y581:p.Phe80Leu chr19 7218881 7218884 VAR_004079 - P06213:p.Asn42Lys chr19 7218842 7218845 VAR_004080 - P06213:p.Val55Ala chr19 7218833 7218836 VAR_004081 - P06213:p.Gly58Arg chr19 7218749 7218752 VAR_015907 - P06213:p.Asp86Gly chr19 7218740 7218743 VAR_015908 - P06213:p.Leu89Pro chr19 7218668 7218671 VAR_004082 - P06213:p.Arg113Pro chr19 7218650 7218653 VAR_015909 - P06213:p.Ala119Val chr19 7218647 7218650 VAR_031518 - P06213:p.Leu120Gln chr19 7218569 7218572 VAR_015539 - P06213:p.Ile146Met chr19 7218506 7218509 VAR_015910 - P06213:p.Val167Leu chr19 7135640 7135643 VAR_004083 - P06213:p.Pro220Leu chr19 7135616 7135619 VAR_041429 - P06213:p.Cys228Arg chr19 7135592 7135595 VAR_004084 - P06213:p.His236Arg chr19 7135520 7135523 VAR_004085 - P06213:p.Leu260Pro chr19 7135463 7135466 VAR_015540 - P06213:p.Arg279Cys chr19 7135463 7135466 VAR_031519 - P06213:p.Arg279His chr19 7135460 7135463 VAR_015911 - P06213:p.Cys280Tyr chr19 7135397 7135400 VAR_015912 - P06213:p.Cys301Tyr chr19 7135376 7135379 VAR_015913 - P06213:p.308del chr19 7125666 7125669 VAR_015914 - P06213:p.Ser350Leu chr19 7125630 7125633 VAR_015541 - P06213:p.362del chr19 7123410 7123413 VAR_031520 - P06213:p.Gly386Ser chr19 7123389 7123392 VAR_004086 - P06213:p.Gly393Arg chr19 7123341 7123344 VAR_004087 - P06213:p.Phe409Val chr19 7121713 7121716 VAR_015542 - P06213:p.Trp439Ser chr19 7121656 7121659 VAR_031521 - P06213:p.Asn458Asp chr19 7121569 7121572 VAR_004088 - P06213:p.Lys487Glu chr19 7121563 7121566 VAR_004089 - P06213:p.Asn489Ser chr19 7103882 7103885 VAR_041430 - P06213:p.Gln695Arg chr19 7094082 7094085 VAR_004090 - P06213:p.Arg762Ser chr19 7093935 7093938 VAR_041431 - P06213:p.Gly811Ser chr19 7092795 7092798 VAR_015917 - P06213:p.Thr858Ala chr19 7083235 7083238 VAR_015918 - P06213:p.Ile925Thr chr19 7083232 7083235 VAR_015919 - P06213:p.Arg926Trp chr19 7083199 7083202 VAR_015920 - P06213:p.Thr937Met chr19 7077616 7077619 VAR_015921 - P06213:p.Pro997Thr chr19 7076515 7076518 VAR_004091 - P06213:p.Val1012Met chr19 7076491 7076494 VAR_004092 - P06213:p.Arg1020Gln chr19 7076482 7076485 VAR_015922 - P06213:p.Ile1023Phe chr19 7076446 7076449 VAR_004093 - P06213:p.Gly1035Val chr19 7076386 7076389 VAR_015923 - P06213:p.Ala1055Val chr19 7076356 7076359 VAR_041432 - P06213:p.Leu1065Val chr19 7076326 7076329 VAR_004094 - P06213:p.Ala1075Asp chr19 7073973 7073976 VAR_015924 - P06213:p.Lys1095Glu chr19 7073901 7073904 VAR_015925 - P06213:p.Arg1119Trp chr19 7073724 7073727 VAR_015926 - P06213:p.Ile1143Thr chr19 7073679 7073682 VAR_015927 - P06213:p.Arg1158Gln chr19 7073679 7073682 VAR_015928 - P06213:p.Arg1158Trp chr19 7073670 7073673 VAR_004095 - P06213:p.Ala1161Thr chr19 7073667 7073670 VAR_004096 - P06213:p.Ala1162Glu chr19 7071749 7071752 VAR_004097 - P06213:p.Met1180Ile chr19 7071716 7071719 VAR_004098 - P06213:p.Arg1191Gln chr19 7071686 7071689 VAR_015929 - P06213:p.Arg1201Gln chr19 7071686 7071689 VAR_015930 - P06213:p.Arg1201Trp chr19 7071674 7071677 VAR_004099 - P06213:p.Pro1205Leu chr19 7071671 7071674 VAR_015931 - P06213:p.Glu1206Asp chr19 7071671 7071674 VAR_015932 - P06213:p.Glu1206Lys chr19 7070572 7070575 VAR_004101 - P06213:p.Trp1227Ser chr19 7068369 7068372 VAR_041433 - P06213:p.Thr1282Ala chr19 7068132 7068135 VAR_015933 - P06213:p.Tyr1361Cys chr19 7068081 7068084 VAR_015934 - P06213:p.Arg1378Gln chr11 2138675 2138678 VAR_003971 - P01308:p.His34Asp chr11 2138633 2138636 VAR_003972 - P01308:p.Phe48Ser chr11 2138630 2138633 VAR_003973 - P01308:p.Phe49Leu chr11 2137723 2137726 VAR_003974 - P01308:p.Arg89His chr11 2137723 2137726 VAR_003975 - P01308:p.Arg89Leu chr11 2137714 2137717 VAR_003976 - P01308:p.Val92Leu chr1 208540203 208540206 VAR_028963 - Q9NVH2:p.His425Arg chr9 100094952 100094955 VAR_022822 + Q9Y283:p.Pro482Arg chr9 100106670 100106673 VAR_022823 + Q9Y283:p.Leu493Ser chr1 223230670 223230673 VAR_023768 - P27987:p.Ser408Ala chr1 223230238 223230241 VAR_022380 - P27987:p.Pro552Gln chr10 59626046 59626049 VAR_022112 - Q8NFU5:p.Met349Ile chr14 94123581 94123584 VAR_013080 + P05154:p.Ser44Gly chr14 94123614 94123617 VAR_007100 + P05154:p.Ala55Val chr14 94123731 94123734 VAR_013082 + P05154:p.Gly94Val chr14 94123764 94123767 VAR_007101 + P05154:p.Lys105Glu chr14 94123794 94123797 VAR_013083 + P05154:p.Leu115Pro chr14 94123812 94123815 VAR_013900 + P05154:p.Pro121Ala chr14 94126159 94126162 VAR_013084 + P05154:p.Gly217Arg chr4 106675032 106675035 VAR_019723 - Q9H2U2:p.Lys282Asn chr10 71648531 71648534 VAR_036358 - Q15181:p.Lys57Asn chr2 237082675 237082678 VAR_031495 - Q86XH1:p.Lys452Arg chr7 2385107 2385110 VAR_031697 + Q6IPM2:p.His101Asn chr7 2417758 2417761 VAR_031698 + Q6IPM2:p.Ala546Val chr7 2418765 2418768 VAR_031699 + Q6IPM2:p.Arg587His chr7 2418792 2418795 VAR_031700 + Q6IPM2:p.Thr596Ala chr3 51904221 51904224 VAR_031414 - Q8N6M8:p.Arg114Gln chr3 199153907 199153910 VAR_031415 - Q9H095:p.Ala112Asp chr16 19707712 19707715 VAR_031416 + Q8N0W5:p.Leu220Pro chr3 12924999 12925002 VAR_027004 - Q6DN90:p.Val882Ile chr1 164745506 164745509 VAR_035020 + Q58WW2:p.Val547Ala chr12 64869409 64869412 VAR_035212 + Q9Y616:p.Pro22Leu chr12 64883792 64883795 VAR_040581 + Q9Y616:p.His57Arg chr12 64883873 64883876 VAR_040582 + Q9Y616:p.Gly84Ser chr12 64889516 64889519 VAR_035213 + Q9Y616:p.Pro111Ala chr12 64890211 64890214 VAR_035214 + Q9Y616:p.Val134Met chr12 64891566 64891569 VAR_040583 + Q9Y616:p.Ile171Val chr12 64908334 64908337 VAR_033901 + Q9Y616:p.Gly269Ser chr12 64908337 64908340 VAR_031077 + Q9Y616:p.Ile270Val chr12 64908391 64908394 VAR_040584 + Q9Y616:p.Ser288Leu chr12 64925144 64925147 VAR_040585 + Q9Y616:p.Arg384Gln chr12 64925165 64925168 VAR_040586 + Q9Y616:p.Met391Thr chr12 64925192 64925195 VAR_035215 + Q9Y616:p.Leu400Val chr12 64925279 64925282 VAR_035216 + Q9Y616:p.Arg429Gln chr12 64927870 64927873 VAR_040587 + Q9Y616:p.Asp482Asn chr12 42448193 42448196 VAR_040588 + Q9NWZ3:p.Ile5Val chr12 42451419 42451422 VAR_019354 + Q9NWZ3:p.Ser98Arg chr12 42462497 42462500 VAR_040589 + Q9NWZ3:p.Met355Val chr12 42463773 42463776 VAR_019355 + Q9NWZ3:p.His390Arg chr12 42463776 42463779 VAR_040590 + Q9NWZ3:p.Arg391His chr12 42466561 42466564 VAR_019356 + Q9NWZ3:p.Ala428Thr chr10 48009293 48009296 VAR_035929 - P10745:p.Arg530His chr19 54858460 54858463 VAR_011901 - Q14653:p.Arg96Gln chr19 54854869 54854872 VAR_011902 - Q14653:p.Glu377Lys chr19 54854719 54854722 VAR_011903 - Q14653:p.Ser427Thr chr1 206363147 206363150 VAR_014961 - O14896:p.Ala2Val chr1 206363135 206363138 VAR_030046 - O14896:p.Arg6Cys chr1 206363105 206363108 VAR_030047 - O14896:p.Ala16Val chr1 206363099 206363102 VAR_014962 - O14896:p.Val18Ala chr1 206363099 206363102 VAR_014963 - O14896:p.Val18Met chr1 206363087 206363090 VAR_030048 - O14896:p.Leu22Pro chr1 206363036 206363039 VAR_014964 - O14896:p.Pro39Ala chr1 206363018 206363021 VAR_030049 - O14896:p.Arg45Gln chr1 206358286 206358289 VAR_014965 - O14896:p.Trp60Gly chr1 206358283 206358286 VAR_014966 - O14896:p.Ala61Gly chr1 206358274 206358277 VAR_030050 - O14896:p.Thr64Ile chr1 206358268 206358271 VAR_014967 - O14896:p.Lys66Thr chr1 206358256 206358259 VAR_014968 - O14896:p.Gly70Arg chr1 206358238 206358241 VAR_014969 - O14896:p.Pro76Ser chr1 206358220 206358223 VAR_014970 - O14896:p.Gln82Lys chr1 206358214 206358217 VAR_014971 - O14896:p.Arg84Cys chr1 206358214 206358217 VAR_030051 - O14896:p.Arg84Gly chr1 206358214 206358217 VAR_014972 - O14896:p.Arg84His chr1 206358202 206358205 VAR_014973 - O14896:p.Asn88His chr1 206358199 206358202 VAR_014974 - O14896:p.Lys89Glu chr1 206358196 206358199 VAR_014975 - O14896:p.Ser90Gly chr1 206358172 206358175 VAR_014976 - O14896:p.Asp98His chr1 206358166 206358169 VAR_030052 - O14896:p.Thr100Ala chr1 206352544 206352547 VAR_014977 - O14896:p.Arg250Gln chr1 206352541 206352544 VAR_030053 - O14896:p.Leu251Pro chr1 206352475 206352478 VAR_014978 - O14896:p.Gln273Arg chr1 206352472 206352475 VAR_014979 - O14896:p.Val274Ile chr1 206352406 206352427 VAR_014980 - O14896:p.Phe290_Asp296delinsLeu chr1 206352412 206352415 VAR_014981 - O14896:p.Leu294Pro chr1 206352403 206352406 VAR_014982 - O14896:p.Val297Ile chr1 206352334 206352337 VAR_014983 - O14896:p.Lys320Glu chr1 206352331 206352334 VAR_014984 - O14896:p.Val321Met chr1 206352319 206352322 VAR_014985 - O14896:p.Gly325Glu chr1 206352259 206352262 VAR_014986 - O14896:p.Leu345Pro chr1 206352253 206352256 VAR_014987 - O14896:p.Cys347Phe chr1 206352247 206352250 VAR_030054 - O14896:p.Glu349Val chr1 206351478 206351481 VAR_014988 - O14896:p.Phe369Ser chr1 206351463 206351466 VAR_014989 - O14896:p.Cys374Trp chr1 206351421 206351424 VAR_014990 - O14896:p.Lys388Glu chr1 206350375 206350378 VAR_030055 - O14896:p.Pro396Ser chr1 206350363 206350366 VAR_030056 - O14896:p.Arg400Trp chr1 206350273 206350276 VAR_014991 - O14896:p.Asp430Asn chr11 604315 604318 VAR_027957 - Q92985:p.Lys179Glu chr11 603206 603209 VAR_034017 - Q92985:p.Gln412Arg chr16 84500162 84500165 VAR_036490 + Q02556:p.Arg81Lys chr16 84505614 84505617 VAR_036491 + Q02556:p.Ala197Thr chr1 156824582 156824585 VAR_034018 - P78508:p.Arg271Cys chr1 156824582 156824585 VAR_020339 - P78508:p.Arg271His chr17 21259262 21259265 VAR_024509 + Q14500:p.Arg6Gln chr2 233459002 233459005 VAR_043509 - O60928:p.Arg162Trp chr2 233458963 233458966 VAR_016193 - O60928:p.Thr175Ile chr2 233458618 233458621 VAR_043510 - O60928:p.Pro290Gln chr2 233458561 233458564 VAR_043511 - O60928:p.Gly309Cys chr19 53659399 53659402 VAR_034019 + Q9UNX9:p.Arg289Cys chr21 38593140 38593143 VAR_025523 + Q99712:p.Met30Leu chr21 38593263 38593266 VAR_036427 + Q99712:p.Ala71Thr chr21 38593344 38593347 VAR_019728 + Q99712:p.Gly98Asp chr17 65639853 65639856 VAR_024510 + Q9NPI9:p.Ile11Val chr11 128215189 128215192 VAR_001548 - P48048:p.Val72Glu chr11 128215183 128215186 VAR_001549 - P48048:p.Asp74Tyr chr11 128215108 128215111 VAR_001550 - P48048:p.Trp99Cys chr11 128215081 128215084 VAR_001551 - P48048:p.Asp108His chr11 128215075 128215078 VAR_001552 - P48048:p.Pro110Leu chr11 128215060 128215063 VAR_036426 - P48048:p.Ser115Phe chr11 128215039 128215042 VAR_001553 - P48048:p.Val122Glu chr11 128215033 128215036 VAR_019724 - P48048:p.Asn124Lys chr11 128214904 128214907 VAR_001554 - P48048:p.Gly167Glu chr11 128214811 128214814 VAR_001555 - P48048:p.Ala198Thr chr11 128214763 128214766 VAR_019725 - P48048:p.Ala214Val chr11 128214748 128214751 VAR_019726 - P48048:p.Ser219Arg chr11 128214460 128214463 VAR_001556 - P48048:p.Val315Gly chr11 128214334 128214337 VAR_019727 - P48048:p.Met357Thr chr17 65682973 65682976 VAR_017851 + P63252:p.Arg67Trp chr17 65682985 65682988 VAR_017852 + P63252:p.Asp71Val chr17 65683057 65683069 VAR_017853 + P63252:p.95_98del chr17 65683288 65683291 VAR_023842 + P63252:p.Asp172Asn chr17 65683330 65683333 VAR_017854 + P63252:p.Pro186Leu chr17 65683420 65683423 VAR_017855 + P63252:p.Asn216His chr17 65683426 65683429 VAR_017856 + P63252:p.Arg218Trp chr17 65683672 65683675 VAR_017857 + P63252:p.Gly300Val chr17 65683678 65683681 VAR_017858 + P63252:p.Val302Met chr17 65683714 65683720 VAR_017859 + P63252:p.314_315del chr1 156870593 156870596 VAR_023568 + Q92806:p.Ala366Val chrX 104817553 104817556 VAR_036592 + Q9NP60:p.Phe606Leu chr2 227488485 227488488 VAR_014853 - P35568:p.Pro158Arg chr2 227488332 227488335 VAR_014854 - P35568:p.Met209Thr chr2 227487423 227487426 VAR_005299 - P35568:p.Ala512Pro chr2 227487135 227487138 VAR_025320 - P35568:p.Thr608Arg chr2 227486790 227486793 VAR_005301 - P35568:p.723del chr2 227486532 227486535 VAR_014855 - P35568:p.Ser809Phe chr2 227486283 227486286 VAR_014856 - P35568:p.Ser892Gly chr2 227486046 227486049 VAR_005300 - P35568:p.Gly971Arg chr2 227485830 227485833 VAR_005302 - P35568:p.Ser1043Tyr chr2 227485674 227485677 VAR_005303 - P35568:p.Cys1095Tyr chr2 227485548 227485551 VAR_021837 - P35568:p.Asp1137Asn chr13 109234034 109234037 VAR_033992 - Q9Y4H2:p.His789Tyr chr13 109233764 109233767 VAR_021557 - Q9Y4H2:p.Gly879Ser chr13 109233755 109233758 VAR_021558 - Q9Y4H2:p.Gly882Ala chr13 109233404 109233407 VAR_033993 - Q9Y4H2:p.Val999Met chr13 109233230 109233233 VAR_014857 - Q9Y4H2:p.Gly1057Asp chrX 107785659 107785662 VAR_038042 - O14654:p.Ala20Val chrX 107785074 107785077 VAR_038043 - O14654:p.Gly215Glu chrX 107784048 107784051 VAR_038044 - O14654:p.Gly557Arg chr5 147191297 147191300 VAR_032011 - P00995:p.Leu12Phe chr5 147191291 147191294 VAR_011688 - P00995:p.Leu14Pro chr5 147187869 147187872 VAR_011689 - P00995:p.Asn34Ser chr5 147187806 147187809 VAR_011690 - P00995:p.Pro55Ser chr5 147184455 147184458 VAR_032012 - P00995:p.Arg67His chr9 33230224 33230227 VAR_011898 + O60575:p.Val7Ile chr5 147573689 147573692 VAR_034020 + Q6UWN8:p.Pro36Thr chr15 72254798 72254801 VAR_037454 + O14498:p.Asp183Asn chr1 143021865 143021868 VAR_027768 + O75578:p.Arg381Gln chr1 143024857 143024860 VAR_034026 + O75578:p.Arg668Trp chr1 143024926 143024929 VAR_027769 + O75578:p.Arg691His chr1 143025055 143025058 VAR_034027 + O75578:p.Ala702Thr chr1 143025124 143025127 VAR_027770 + O75578:p.Arg725Gln chr15 66415214 66415217 VAR_009889 - Q9UKX5:p.Val433Met chr15 66415100 66415103 VAR_020038 - Q9UKX5:p.Met471Leu chr15 66396698 66396701 VAR_020039 - Q9UKX5:p.Gln891Lys chr15 66390469 66390472 VAR_009893 - Q9UKX5:p.1030del chr5 52237477 52237480 VAR_034022 + P56199:p.Thr480Met chr5 52265499 52265502 VAR_034023 + P56199:p.Ile961Met chr5 52276565 52276568 VAR_034024 + P56199:p.Glu1108Gly chr5 52398831 52398834 VAR_029146 + P17301:p.Asn691Lys chr5 52406844 52406847 VAR_021855 + P17301:p.Asn927Ser chr5 52421562 52421565 VAR_020036 + P17301:p.Lys1127Gln chr10 15759624 15759627 VAR_018673 - P53708:p.Val216Leu chr10 15689744 15689747 VAR_034682 - P53708:p.Val567Leu chr10 15689714 15689717 VAR_018674 - P53708:p.Ser577Phe chr10 15689702 15689705 VAR_018675 - P53708:p.Gln581Pro chr10 15674276 15674279 VAR_018676 - P53708:p.Arg748His chr10 15613057 15613060 VAR_018677 - P53708:p.Ile993Val chr3 37758237 37758240 VAR_036073 + Q13797:p.Arg750Cys chr17 3607117 3607120 VAR_008884 - P38570:p.Asp360Glu chr17 3582488 3582491 VAR_020037 - P38570:p.Gln892His chr17 3579582 3579585 VAR_034025 - P38570:p.Arg950Trp chr17 3573748 3573751 VAR_008885 - P38570:p.Cys1041Ser chr16 30398014 30398017 VAR_025235 + P20701:p.Arg144His chr16 30400323 30400326 VAR_025236 + P20701:p.Arg214Trp chr16 30424065 30424068 VAR_025237 + P20701:p.Gln746Lys chr16 30425540 30425543 VAR_025238 + P20701:p.Arg791Thr chr2 187336971 187336974 VAR_024289 + P06756:p.Ile405Val chr2 187357922 187357925 VAR_031547 + P06756:p.Val783Ile chr16 31274818 31274820 VAR_018672 + P20702:p.Trp48Arg chr16 31275446 31275447 VAR_018672 + P20702:p.Trp48Arg chr16 31279174 31279177 VAR_031925 + P20702:p.Ala251Thr chr16 31282034 31282037 VAR_031926 + P20702:p.Pro517Arg chr16 31282124 31282127 VAR_031927 + P20702:p.Glu547Lys chr16 31298620 31298623 VAR_031928 + P20702:p.Phe971Leu chr21 45147822 45147825 VAR_003984 - P05107:p.Asp128Asn chr21 45147792 45147795 VAR_013402 - P05107:p.Ser138Pro chr21 45147759 45147762 VAR_003985 - P05107:p.Leu149Pro chr21 45146068 45146071 VAR_003986 - P05107:p.Gly169Arg chr21 45146041 45146044 VAR_003987 - P05107:p.Pro178Leu chr21 45145987 45145990 VAR_003988 - P05107:p.Lys196Thr chr21 45144740 45144743 VAR_013403 - P05107:p.Gly273Arg chr21 45144707 45144710 VAR_003989 - P05107:p.Gly284Ser chr21 45139343 45139346 VAR_003990 - P05107:p.Asn351Ser chr21 45139334 45139337 VAR_030035 - P05107:p.Gln354His chr21 45133737 45133740 VAR_003991 - P05107:p.Arg586Trp chr21 45133716 45133719 VAR_003992 - P05107:p.Arg593Cys chr17 71234901 71234904 VAR_010652 + P16144:p.Cys38Arg chr17 71235097 71235100 VAR_004006 + P16144:p.Cys61Tyr chr17 71235353 71235356 VAR_011292 + P16144:p.Arg98His chr17 71235452 71235455 VAR_011293 + P16144:p.Asp131Tyr chr17 71235527 71235530 VAR_004007 + P16144:p.Leu156Pro chr17 71237106 71237109 VAR_004008 + P16144:p.Cys245Gly chr17 71237931 71237934 VAR_004009 + P16144:p.Arg252Cys chr17 71237994 71237997 VAR_011294 + P16144:p.Gly273Asp chr17 71238024 71238027 VAR_011295 + P16144:p.Arg283Cys chr17 71238150 71238153 VAR_011296 + P16144:p.Val325Asp chr17 71238553 71238556 VAR_011297 + P16144:p.Leu336Pro chr17 71239892 71239895 VAR_027803 + P16144:p.Gln478His chr17 71243752 71243755 VAR_004010 + P16144:p.Cys562Arg chr17 71248116 71248119 VAR_011298 + P16144:p.Arg844Leu chr17 71250265 71250268 VAR_011299 + P16144:p.Gly931Asp chr17 71258526 71258529 VAR_011300 + P16144:p.His1216Gln chr17 71258666 71258669 VAR_011301 + P16144:p.Arg1225His chr17 71259896 71259899 VAR_004011 + P16144:p.Arg1281Trp chr3 125998333 125998336 VAR_024290 - P18084:p.Leu428Val chr7 20214955 20214958 VAR_034028 + P26012:p.Ser552Phe chr18 51047214 51047217 VAR_034704 - P15884:p.Arg576Gln chr18 51047214 51047217 VAR_034705 - P15884:p.Arg576Trp chrX 54668366 54668369 VAR_032042 - Q6UXX5:p.Gly387Arg chrX 54667844 54667847 VAR_032043 - Q6UXX5:p.Arg561Cys chrX 54664549 54664552 VAR_032044 - Q6UXX5:p.Trp1041Ser chrX 54660676 54660679 VAR_032045 - Q6UXX5:p.Gly1170Ala chr3 52836246 52836249 VAR_013836 - Q14624:p.Ile86Asn chr3 52827575 52827578 VAR_027871 - Q14624:p.Pro698Thr chr3 52826037 52826040 VAR_027873 - Q14624:p.Leu791Pro chr1 157664897 157664900 VAR_019924 - Q8WWA0:p.Val109Asp chr1 157659529 157659532 VAR_019925 - Q8WWA0:p.Arg313Pro chr1 157734037 157734040 VAR_019926 - Q8WWU7:p.Arg103His chrX 78425091 78425094 VAR_034029 - O43736:p.Ala72Val chrX 78422983 78422986 VAR_034030 - O43736:p.Arg230Thr chr13 47733355 47733358 VAR_010240 + Q9Y287:p.Ser266Phe chr13 47733355 47733358 VAR_010239 + Q9Y287:p.Ser266Ser chr2 231563672 231563675 VAR_022111 + Q9NQX7:p.Gly53Ser chr20 3141984 3141987 VAR_015576 + Q9BY32:p.Pro32Thr chr2 24443167 24443170 VAR_024287 - Q9NZM3:p.Thr253Ala chr2 24436606 24436609 VAR_024288 - Q9NZM3:p.Val290Ile chr2 24350697 24350700 VAR_020193 - Q9NZM3:p.Ile1286Thr chr2 24342832 24342835 VAR_021937 - Q9NZM3:p.Ala1533Thr chr15 38485458 38485461 VAR_015960 + P26440:p.Arg50Pro chr6 150811394 150811397 VAR_025785 + Q6PHW0:p.Leu260Pro chr12 297834 297837 VAR_032984 - P29375:p.Met865Thr chr12 287240 287243 VAR_032985 - P29375:p.Pro1190Ala chrX 53130568 53130571 VAR_032986 - P41229:p.Asp87Gly chrX 53124067 53124070 VAR_022730 - P41229:p.Ala388Pro chrX 53124025 53124028 VAR_022731 - P41229:p.Asp402Tyr chrX 53123747 53123750 VAR_032987 - P41229:p.Ser451Arg chrX 53113887 53113890 VAR_032988 - P41229:p.Phe642Leu chrX 53111328 53111331 VAR_022732 - P41229:p.Glu698Lys chrX 53111229 53111232 VAR_022733 - P41229:p.Leu731Phe chrX 53111084 53111087 VAR_032989 - P41229:p.Arg750Trp chrX 53111081 53111084 VAR_032990 - P41229:p.Tyr751Cys chrY 20257598 20257601 VAR_032991 - Q9BY66:p.Val1186Leu chr20 10602103 10602115 VAR_026296 - P78504:p.22_25del chr20 10601642 10601645 VAR_026297 - P78504:p.Ala31Val chr20 10601636 10601639 VAR_026298 - P78504:p.Gly33Asp chr20 10601636 10601639 VAR_026299 - P78504:p.Gly33Ser chr20 10601636 10601639 VAR_026300 - P78504:p.Gly33Val chr20 10601624 10601627 VAR_013186 - P78504:p.Leu37Ser chr20 10601618 10601621 VAR_026301 - P78504:p.Ile39Ser chr20 10601615 10601618 VAR_026302 - P78504:p.Leu40Pro chr20 10601600 10601603 VAR_026303 - P78504:p.Val45Leu chr20 10601576 10601579 VAR_026304 - P78504:p.Asn53Asp chr20 10601540 10601543 VAR_026305 - P78504:p.Lys65Met chr20 10601510 10601513 VAR_026306 - P78504:p.Phe75Ser chr20 10601501 10601504 VAR_026307 - P78504:p.Cys78Ser chr20 10601498 10601501 VAR_013187 - P78504:p.Leu79His chr20 10601459 10601462 VAR_026308 - P78504:p.Cys92Arg chr20 10601459 10601462 VAR_026309 - P78504:p.Cys92Tyr chr20 10601375 10601378 VAR_026310 - P78504:p.Ile120Asn chr20 10601366 10601369 VAR_026311 - P78504:p.Pro123Ser chr20 10601354 10601357 VAR_013188 - P78504:p.Ala127Thr chr20 10601348 10601351 VAR_013189 - P78504:p.Pro129Arg chr20 10587353 10587356 VAR_013190 - P78504:p.Ile152Thr chr20 10587344 10587347 VAR_026312 - P78504:p.Ala155Pro chr20 10587320 10587323 VAR_013191 - P78504:p.Pro163Leu chr20 10587320 10587323 VAR_026313 - P78504:p.Pro163Arg chr20 10587266 10587269 VAR_026314 - P78504:p.Tyr181Asn chr20 10587257 10587260 VAR_013192 - P78504:p.Arg184Cys chr20 10587257 10587260 VAR_013193 - P78504:p.Arg184Gly chr20 10587257 10587260 VAR_013194 - P78504:p.Arg184His chr20 10587257 10587260 VAR_013195 - P78504:p.Arg184Leu chr20 10587248 10587251 VAR_013196 - P78504:p.Cys187Ser chr20 10587248 10587251 VAR_026315 - P78504:p.Cys187Tyr chr20 10587200 10587203 VAR_026316 - P78504:p.Arg203Lys chr20 10587149 10587152 VAR_013197 - P78504:p.Cys220Phe chr20 10587137 10587140 VAR_026317 - P78504:p.Trp224Cys chr20 10587122 10587125 VAR_013198 - P78504:p.Cys229Gly chr20 10587122 10587125 VAR_013199 - P78504:p.Cys229Tyr chr20 10585098 10585101 VAR_026318 - P78504:p.Cys234Tyr chr20 10581233 10581236 VAR_026320 - P78504:p.Gly256Ser chr20 10581194 10581197 VAR_026321 - P78504:p.Pro269Leu chr20 10581188 10581191 VAR_026322 - P78504:p.Cys271Arg chr20 10581179 10581182 VAR_013200 - P78504:p.Gly274Asp chr20 10581149 10581152 VAR_013201 - P78504:p.Cys284Phe chr20 10581137 10581140 VAR_013202 - P78504:p.Trp288Cys chr20 10578970 10578973 VAR_013203 - P78504:p.Gly386Arg chr20 10578203 10578206 VAR_013204 - P78504:p.Cys438Phe chr20 10577253 10577256 VAR_026323 - P78504:p.Asn504Ser chr20 10574046 10574049 VAR_026324 - P78504:p.Tyr690Asp chr20 10574037 10574040 VAR_026325 - P78504:p.Cys693Tyr chr20 10573875 10573878 VAR_026326 - P78504:p.Cys714Tyr chr20 10573824 10573827 VAR_013205 - P78504:p.Cys731Ser chr20 10573797 10573800 VAR_013206 - P78504:p.Cys740Arg chr20 10573595 10573598 VAR_013207 - P78504:p.Cys753Arg chr20 10572429 10572432 VAR_026327 - P78504:p.Arg818Lys chr20 10570499 10570502 VAR_026328 - P78504:p.Pro871Arg chr20 10570445 10570448 VAR_026329 - P78504:p.Arg889Gln chr20 10570317 10570320 VAR_026330 - P78504:p.Cys902Ser chr20 10570299 10570302 VAR_026331 - P78504:p.His908Gln chr20 10570290 10570293 VAR_026332 - P78504:p.Cys911Tyr chr20 10570284 10570287 VAR_026333 - P78504:p.Ser913Arg chr20 10570260 10570263 VAR_026334 - P78504:p.Leu921Pro chr20 10570212 10570215 VAR_026335 - P78504:p.Arg937Gln chr20 10569461 10569467 VAR_026336 - P78504:p.Val1055_Arg1056delinsGly chr20 10568163 10568166 VAR_026337 - P78504:p.Arg1213Gln chr14 104688084 104688087 VAR_028113 - Q9Y219:p.Glu501Lys chr9 5034430 5034433 VAR_041716 + O60674:p.Gly127Asp chr9 5040787 5040790 VAR_041717 + O60674:p.Lys191Gln chr9 5045767 5045770 VAR_041718 + O60674:p.Lys346Arg chr9 5054954 5054957 VAR_041719 + O60674:p.Ala377Glu chr9 5055002 5055005 VAR_041720 + O60674:p.Leu393Val chr9 5060019 5060028 VAR_032693 + O60674:p.Phe537_Lys539delinsLeu chr9 5060022 5060028 VAR_032694 + O60674:p.His538_Lys539delinsGlnLeu chr9 5060025 5060028 VAR_032695 + O60674:p.Lys539Leu chr9 5062599 5062602 VAR_043129 + O60674:p.Asp584Glu chr9 5063739 5063742 VAR_032696 + O60674:p.Lys607Asn chr9 5063769 5063772 VAR_032697 + O60674:p.Val617Phe chr9 5116341 5116344 VAR_041721 + O60674:p.Arg1063His chr19 17816190 17816193 VAR_041722 - P52333:p.Pro12Leu chr19 17816106 17816109 VAR_041723 - P52333:p.Arg40His chr19 17816052 17816055 VAR_019337 - P52333:p.58del chr19 17815593 17815596 VAR_006284 - P52333:p.Tyr100Cys chr19 17815212 17815215 VAR_019336 - P52333:p.Pro132Thr chr19 17814948 17814951 VAR_010492 - P52333:p.Pro151Arg chr19 17814894 17814897 VAR_019338 - P52333:p.Asp169Glu chr19 17810077 17810080 VAR_041724 - P52333:p.Leu521Val chr19 17809860 17809863 VAR_041725 - P52333:p.Leu527Pro chr19 17808977 17808980 VAR_010494 - P52333:p.Arg582Trp chr19 17808947 17808968 VAR_010495 - P52333:p.586_592del chr19 17808956 17808959 VAR_019339 - P52333:p.Gly589Ser chr19 17806795 17806798 VAR_041726 - P52333:p.Ile688Phe chr19 17806693 17806696 VAR_010496 - P52333:p.Val722Ile chr19 17806452 17806455 VAR_010497 - P52333:p.Cys759Arg chr19 17803557 17803560 VAR_010498 - P52333:p.Leu910Ser chr2 86595224 86595227 VAR_035940 + Q9Y4C1:p.Asp187His chr2 86595245 86595248 VAR_030623 + Q9Y4C1:p.Glu194Lys chr2 86616985 86616988 VAR_030624 + Q9Y4C1:p.Val710Glu chr5 137782705 137782708 VAR_026222 + Q7LBC6:p.Ser1201Asn chr1 43829616 43829619 VAR_031217 + O75164:p.Val877Gly chr9 6974235 6974238 VAR_020340 + Q9H3R0:p.Asp396Asn chr9 7036900 7036903 VAR_024681 + Q9H3R0:p.Gln767Glu chr9 7164672 7164675 VAR_024682 + Q9H3R0:p.Val1039Ile chr11 45876284 45876287 VAR_012243 + Q9UQF2:p.Ser59Asn chr5 147021012 147021015 VAR_022059 - Q96AA8:p.Val106Ile chr5 147004743 147004746 VAR_035930 - Q96AA8:p.Arg315Cys chr16 27137842 27137845 VAR_032928 + Q8N371:p.Glu302Asp chr16 86236107 86236110 VAR_032494 + Q8WXH2:p.Ile376Thr chr16 86280880 86280883 VAR_032495 + Q8WXH2:p.Pro472Thr chr16 86281399 86281402 VAR_032496 + Q8WXH2:p.Pro645Leu chr19 2204778 2204781 VAR_037838 - Q96MG2:p.Val92Ala chr19 2203624 2203627 VAR_037839 - Q96MG2:p.Arg233Gln chr1 150762753 150762756 VAR_033994 - O76095:p.Leu16Phe chr19 12764272 12764275 VAR_021081 + P17275:p.Leu230Val chr1 58959872 58959875 VAR_012070 - P05412:p.Thr297Met chr1 171861345 171861348 VAR_020040 - Q15053:p.Gln26Lys chr1 19311686 19311689 VAR_027359 - Q8N766:p.Leu295Ser chr1 19310648 19310651 VAR_027360 - Q8N766:p.Ser345Thr chr1 19310642 19310645 VAR_027361 - Q8N766:p.Ser347Asn chr17 23985773 23985776 VAR_027352 - Q14667:p.His986Gln chr17 23979455 23979458 VAR_027353 - Q14667:p.Val1516Gly chr1 226079426 226079429 VAR_034031 + Q14146:p.Val778Gly chr5 141287917 141287920 VAR_028197 + Q14154:p.Ala95Thr chr5 141288016 141288019 VAR_018272 + Q14154:p.Phe128Leu chr5 141290007 141290010 VAR_018273 + Q14154:p.Ala247Thr chr5 141298361 141298364 VAR_028198 + Q14154:p.Arg468Cys chr17 71004021 71004024 VAR_019508 + Q12767:p.Ile1040Thr chr7 32371869 32371872 VAR_027083 + Q8NBF6:p.Cys257Ser chr6 24704454 24704457 VAR_023837 - Q5VV43:p.Thr142Pro chr6 24696860 24696863 VAR_023838 - Q5VV43:p.Ala311Thr chr6 24664913 24664916 VAR_034032 - Q5VV43:p.Gly919Ala chr14 23971087 23971090 VAR_030843 + O15037:p.Lys261Thr chr20 36074282 36074285 VAR_034033 - O43156:p.Arg450His chr20 36073619 36073622 VAR_014082 - O43156:p.Ala671Val chr20 36058625 36058628 VAR_014083 - O43156:p.Ala979Thr chr20 36058192 36058195 VAR_034034 - O43156:p.Arg1028Lys chr6 127813142 127813145 VAR_027082 - Q6ZU52:p.Ser61Arg chr14 44502619 44502622 VAR_027739 + Q9Y4F4:p.Glu416Gln chr14 44502904 44502907 VAR_027740 + Q9Y4F4:p.Leu511Val chr18 44417045 44417048 VAR_020041 + O43310:p.Pro82Leu chr18 44541851 44541854 VAR_035749 + O43310:p.Val389Leu chr18 44541998 44542001 VAR_035750 + O43310:p.Met438Ile chr16 83658475 83658478 VAR_034035 + O60268:p.Arg100His chr9 131380730 131380733 VAR_030289 + Q5JSZ5:p.Ser936Thr chr16 27627700 27627703 VAR_037654 + O60303:p.Thr522Met chr16 27627739 27627742 VAR_037655 + O60303:p.Ala535Ser chr16 27668434 27668437 VAR_037656 + O60303:p.Arg885Gln chr16 27688808 27688811 VAR_037658 + O60303:p.Arg1368Gln chr16 27696778 27696781 VAR_037659 + O60303:p.Val1597Ile chr1 3776290 3776293 VAR_034036 - O60308:p.Leu414Ile chr1 3769079 3769082 VAR_020042 - O60308:p.Ala686Val chr9 135602592 135602595 VAR_036906 + Q5T8A7:p.Val98Ala chr9 135602916 135602919 VAR_036907 + Q5T8A7:p.Lys206Glu chr9 135603336 135603339 VAR_036908 + Q5T8A7:p.Arg346Lys chr9 135603600 135603603 VAR_036909 + Q5T8A7:p.Met434Thr chr9 135603858 135603861 VAR_036910 + Q5T8A7:p.Arg520His chr9 135604026 135604029 VAR_036911 + Q5T8A7:p.Gly576Ser chr9 135604800 135604803 VAR_036912 + Q5T8A7:p.Asn834Asp chr6 97080975 97080978 VAR_034037 + O94874:p.Val137Phe chr19 40800109 40800111 VAR_034038 + O94927:p.Pro213Leu chr19 40800596 40800597 VAR_034038 + O94927:p.Pro213Leu chr19 40801150 40801153 VAR_034039 + O94927:p.Ala277Asp chr1 168484695 168484698 VAR_034040 + Q8N6R0:p.Met105Val chr1 168486836 168486839 VAR_034041 + Q8N6R0:p.Met359Ile chr15 77536501 77536504 VAR_034044 + Q9UPX6:p.Val320Phe chr15 77542658 77542661 VAR_022042 + Q9UPX6:p.Ile832Val chr19 3770122 3770125 VAR_036890 - Q9UPR6:p.Ala577Thr chr4 123507889 123507892 VAR_038547 + Q2LD37:p.Ile978Thr chr4 123626463 123626466 VAR_038548 + Q2LD37:p.Thr4352Ala chr4 123634605 123634608 VAR_038549 + Q2LD37:p.Thr4786Ala chr3 44769884 44769887 VAR_027272 - Q96AT1:p.Ile139Met chr15 78960473 78960476 VAR_018165 + Q8WUJ3:p.Arg187Cys chr15 78960473 78960476 VAR_018166 + Q8WUJ3:p.Arg187His chr15 79005077 79005080 VAR_018167 + Q8WUJ3:p.His783Arg chr15 79005077 79005080 VAR_018168 + Q8WUJ3:p.His783Tyr chr15 79017292 79017295 VAR_018169 + Q8WUJ3:p.Val1109Ile chr15 79021341 79021344 VAR_018170 + Q8WUJ3:p.Pro1169Ala chr17 41465319 41465322 VAR_026287 - Q7Z3B3:p.Pro1010Leu chr1 109416659 109416662 VAR_032138 + Q6UXG2:p.Ile86Val chr1 109447457 109447460 VAR_032139 + Q6UXG2:p.Thr623Pro chr1 109453321 109453324 VAR_035751 + Q6UXG2:p.Ser829Arg chr1 109457658 109457661 VAR_032140 + Q6UXG2:p.Leu1009Pro chr18 32901420 32901423 VAR_037483 + Q86T90:p.Arg383Cys chr11 101337930 101337933 VAR_027365 + Q9P2H0:p.Ser275Tyr chr3 115220255 115220258 VAR_036913 - Q8NCU4:p.Arg374Trp chr3 115203206 115203209 VAR_036914 - Q8NCU4:p.Glu696Asp chr4 186486785 186486788 VAR_036915 - Q9P2B7:p.Thr238Ala chr4 186460473 186460476 VAR_036916 - Q9P2B7:p.Leu443Ser chr1 32902590 32902593 VAR_037190 + Q9P206:p.Pro57Ser chr1 32903399 32903402 VAR_037191 + Q9P206:p.Ser114Pro chr1 32904743 32904746 VAR_037192 + Q9P206:p.Met232Val chr1 32904977 32904980 VAR_037193 + Q9P206:p.Leu310Ile chr1 32906357 32906360 VAR_037194 + Q9P206:p.Pro770Leu chr1 32907110 32907113 VAR_037195 + Q9P206:p.Glu1021Lys chr4 1338857 1338860 VAR_038499 + Q2YD98:p.Arg391His chr11 599146 599149 VAR_030727 + Q9P1Y6:p.Glu1231Ala chr11 599575 599578 VAR_030728 + Q9P1Y6:p.Ala1374Val chr10 116595939 116595942 VAR_031793 + Q5W0V3:p.Leu408Ile chr10 116605032 116605035 VAR_031794 + Q5W0V3:p.Phe631Leu chr16 83089163 83089166 VAR_037675 - Q6P9B6:p.Arg10Leu chr16 83086882 83086885 VAR_037676 - Q6P9B6:p.His97Gln chr16 83080397 83080400 VAR_037677 - Q6P9B6:p.Asp172Glu chr16 83077996 83077999 VAR_037679 - Q6P9B6:p.Glu233Asp chr16 83071061 83071064 VAR_037681 - Q6P9B6:p.Ser443Leu chr1 177617535 177617538 VAR_037682 + Q5VZ46:p.His214Tyr chr1 177636919 177636922 VAR_037683 + Q5VZ46:p.Arg740Trp chr1 177637102 177637105 VAR_037684 + Q5VZ46:p.Leu801Phe chr18 41762853 41762856 VAR_035278 - Q9HCE0:p.Glu844Asp chr18 41751706 41751709 VAR_035279 - Q9HCE0:p.Val1058Ala chr18 41750160 41750163 VAR_035280 - Q9HCE0:p.Ile1131Val chr19 18239217 18239220 VAR_023418 - Q9H0B3:p.Leu44Pro chr19 18238644 18238647 VAR_023419 - Q9H0B3:p.Leu235Val chr19 18238494 18238497 VAR_023420 - Q9H0B3:p.Ser285Thr chr19 18238272 18238275 VAR_023421 - Q9H0B3:p.Met359Thr chr19 18237405 18237408 VAR_034042 - Q9H0B3:p.Tyr648Phe chr19 18236880 18236883 VAR_034043 - Q9H0B3:p.Pro823Arg chr19 18229808 18229811 VAR_023422 - Q9H0B3:p.Pro908His chr14 76641894 76641897 VAR_028881 + Q9C0C6:p.Leu31Phe chr20 36302929 36302932 VAR_038501 - Q5JYT7:p.Lys339Asn chr20 36302701 36302704 VAR_038502 - Q5JYT7:p.Pro415Leu chr20 36290028 36290031 VAR_038503 - Q5JYT7:p.Ala633Val chr20 36279149 36279152 VAR_038504 - Q5JYT7:p.Glu940Lys chr20 36275325 36275328 VAR_038505 - Q5JYT7:p.Arg1045Trp chr9 20754868 20754871 VAR_037877 + Q5VW36:p.Leu166Ser chr9 20760030 20760033 VAR_037878 + Q5VW36:p.Val234Ile chr9 20810328 20810331 VAR_037879 + Q5VW36:p.Ile523Val chr9 20856972 20856975 VAR_037880 + Q5VW36:p.Thr718Ser chr9 20943048 20943051 VAR_037881 + Q5VW36:p.Thr1373Pro chr9 20978425 20978428 VAR_037882 + Q5VW36:p.Lys1668Glu chr13 114109120 114109123 VAR_027270 + Q96JM3:p.Leu568Val chr13 114109228 114109231 VAR_027271 + Q96JM3:p.Pro604Arg chr17 36231985 36231988 VAR_010505 - P13645:p.Gly126Ser chr17 36231913 36231916 VAR_010506 - P13645:p.Met150Arg chr17 36231913 36231916 VAR_010507 - P13645:p.Met150Thr chr17 36231901 36231904 VAR_003826 - P13645:p.Asn154His chr17 36231895 36231898 VAR_003828 - P13645:p.Arg156Cys chr17 36231895 36231898 VAR_003827 - P13645:p.Arg156His chr17 36231895 36231898 VAR_003829 - P13645:p.Arg156Pro chr17 36231895 36231898 VAR_003830 - P13645:p.Arg156Ser chr17 36231883 36231886 VAR_003831 - P13645:p.Tyr160Asp chr17 36231883 36231886 VAR_010508 - P13645:p.Tyr160Asn chr17 36231883 36231886 VAR_010509 - P13645:p.Tyr160Ser chr17 36231880 36231883 VAR_003832 - P13645:p.Leu161Ser chr17 36229401 36229404 VAR_033145 - P13645:p.Arg422Glu chr17 36229350 36229353 VAR_010510 - P13645:p.Lys439Glu chr17 36229341 36229344 VAR_003833 - P13645:p.Leu442Gln chr17 36229329 36229332 VAR_010511 - P13645:p.Ile446Thr chr17 36276904 36276907 VAR_009547 - Q99456:p.Arg20Trp chr17 36276577 36276580 VAR_013126 - Q99456:p.Met129Thr chr17 36276574 36276577 VAR_013127 - Q99456:p.Gln130Pro chr17 36276559 36276562 VAR_008526 - Q99456:p.Arg135Gly chr17 36276559 36276562 VAR_008525 - Q99456:p.Arg135Ile chr17 36276559 36276562 VAR_031394 - Q99456:p.Arg135Ser chr17 36276559 36276562 VAR_003834 - Q99456:p.Arg135Thr chr17 36276553 36276556 VAR_031395 - Q99456:p.Ala137Pro chr17 36276544 36276547 VAR_008527 - Q99456:p.Leu140Arg chr17 36276535 36276538 VAR_003835 - Q99456:p.Val143Leu chr17 36273019 36273022 VAR_031396 - Q99456:p.Leu399Leu chr17 36272938 36272941 VAR_031397 - Q99456:p.Ile426Ser chr17 36272929 36272932 VAR_031398 - Q99456:p.Tyr429Cys chr17 36272929 36272932 VAR_008528 - Q99456:p.Tyr429Asp chr17 36915004 36915007 VAR_016035 - P13646:p.Met108Thr chr17 36914995 36914998 VAR_023924 - P13646:p.Leu111Pro chr17 36914992 36914995 VAR_016036 - P13646:p.Asn112Ser chr17 36914983 36914986 VAR_016037 - P13646:p.Leu115Pro chr17 36914971 36914974 VAR_003836 - P13646:p.Leu119Pro chr17 36914890 36914893 VAR_024488 - P13646:p.Ala146Gly chr17 36996330 36996333 VAR_010437 - P02533:p.Ala94Thr chr17 36996264 36996267 VAR_010438 - P02533:p.Lys116Asn chr17 36996255 36996258 VAR_010439 - P02533:p.Met119Ile chr17 36996255 36996258 VAR_010440 - P02533:p.Met119Thr chr17 36996255 36996258 VAR_023719 - P02533:p.Met119Val chr17 36996252 36996255 VAR_010441 - P02533:p.Gln120Arg chr17 36996246 36996249 VAR_010442 - P02533:p.Leu122Phe chr17 36996243 36996246 VAR_023720 - P02533:p.Asn123Lys chr17 36996243 36996246 VAR_010443 - P02533:p.Asn123Ser chr17 36996237 36996240 VAR_003837 - P02533:p.Arg125Cys chr17 36996237 36996240 VAR_023721 - P02533:p.Arg125Gly chr17 36996237 36996240 VAR_003838 - P02533:p.Arg125His chr17 36996237 36996240 VAR_010444 - P02533:p.Arg125Ser chr17 36996228 36996231 VAR_031634 - P02533:p.128del chr17 36996225 36996228 VAR_010445 - P02533:p.Tyr129Asp chr17 36996222 36996225 VAR_023722 - P02533:p.Leu130Pro chr17 36996213 36996216 VAR_033496 - P02533:p.Val133Ala chr17 36996213 36996216 VAR_023723 - P02533:p.Val133Leu chr17 36996210 36996213 VAR_031635 - P02533:p.Arg134Pro chr17 36996183 36996186 VAR_010446 - P02533:p.Leu143Pro chr17 36996180 36996183 VAR_003839 - P02533:p.Glu144Ala chr17 36996168 36996171 VAR_031636 - P02533:p.Arg148Cys chr17 36994166 36994169 VAR_027718 - P02533:p.Arg211Pro chr17 36994058 36994061 VAR_010447 - P02533:p.Ala247Asp chr17 36993654 36993657 VAR_003840 - P02533:p.Val270Met chr17 36993648 36993651 VAR_003841 - P02533:p.Met272Arg chr17 36993648 36993651 VAR_027719 - P02533:p.Met272Thr chr17 36993645 36993648 VAR_010448 - P02533:p.Asp273Gly chr17 36993642 36993645 VAR_010449 - P02533:p.Ala274Asp chr17 36993161 36993164 VAR_003842 - P02533:p.375del chr17 36993155 36993158 VAR_010450 - P02533:p.Ile377Asn chr17 36993134 36993137 VAR_003843 - P02533:p.Leu384Pro chr17 36993122 36993125 VAR_010451 - P02533:p.Arg388Cys chr17 36993122 36993125 VAR_031637 - P02533:p.Arg388His chr17 36993062 36993065 VAR_023724 - P02533:p.Leu408Met chr17 36993053 36993056 VAR_027720 - P02533:p.411del chr17 36993047 36993050 VAR_023725 - P02533:p.Ala413Thr chr17 36993041 36993044 VAR_031638 - P02533:p.Tyr415Cys chr17 36993041 36993044 VAR_003844 - P02533:p.Tyr415His chr17 36993038 36993041 VAR_031639 - P02533:p.Arg416Pro chr17 36993035 36993038 VAR_027721 - P02533:p.Arg417Pro chr17 36993029 36993032 VAR_003845 - P02533:p.Leu419Gln chr17 36993020 36993023 VAR_010452 - P02533:p.Glu422Lys chr17 37022145 37022157 VAR_012854 - P08779:p.104_107del chr17 37022103 37022106 VAR_017065 - P08779:p.Met121Thr chr17 37022100 37022103 VAR_012855 - P08779:p.Gln122Pro chr17 37022094 37022097 VAR_013837 - P08779:p.Leu124Arg chr17 37022091 37022094 VAR_009183 - P08779:p.Asn125Ser chr17 37022085 37022088 VAR_009184 - P08779:p.Arg127Cys chr17 37022085 37022088 VAR_012856 - P08779:p.Arg127Pro chr17 37022082 37022085 VAR_017066 - P08779:p.Leu128Gln chr17 37022076 37022079 VAR_035440 - P08779:p.130del chr17 37022070 37022073 VAR_003846 - P08779:p.Leu132Pro chr17 37020326 37020329 VAR_017067 - P08779:p.Lys354Asn chr17 37034023 37034026 VAR_010512 - Q04695:p.Met88Thr chr17 37034011 37034014 VAR_003847 - Q04695:p.Asn92Asp chr17 37034011 37034014 VAR_003848 - Q04695:p.Asn92His chr17 37034011 37034014 VAR_003849 - Q04695:p.Asn92Ser chr17 37033993 37034008 VAR_017069 - Q04695:p.94_98del chr17 37034005 37034008 VAR_010513 - Q04695:p.Arg94Cys chr17 37034005 37034008 VAR_003850 - Q04695:p.Arg94His chr17 37034005 37034008 VAR_017068 - Q04695:p.Arg94Pro chr17 37034002 37034005 VAR_017071 - Q04695:p.Leu95Pro chr17 37034002 37034005 VAR_017070 - Q04695:p.Leu95Gln chr17 37033996 37033999 VAR_017072 - Q04695:p.97del chr17 37033993 37033996 VAR_003851 - Q04695:p.Tyr98Asp chr17 37033990 37033993 VAR_017073 - Q04695:p.Leu99Pro chr17 37033981 37033984 VAR_017074 - Q04695:p.Val102Met chr17 37033960 37033963 VAR_037083 - Q04695:p.Asn109Asp chr12 51629530 51629533 VAR_023054 + P05783:p.Thr103Ala chr12 51629605 51629608 VAR_003852 + P05783:p.His128Leu chr12 51631561 51631564 VAR_023055 + P05783:p.Ser230Thr chr12 51631654 51631657 VAR_023056 + P05783:p.Arg261Gln chr12 51632238 51632241 VAR_023057 + P05783:p.Gly340Arg chr17 36294951 36294954 VAR_036367 - P35900:p.Ser4Arg chr17 36294576 36294579 VAR_024489 - P35900:p.Ser129Asn chr17 36113126 36113129 VAR_038068 - Q2M2I5:p.Ala115Thr chr17 36111022 36111025 VAR_038069 - Q2M2I5:p.Gly250Asp chr17 36110971 36110974 VAR_038070 - Q2M2I5:p.Met267Ile chr17 36109820 36109823 VAR_038071 - Q2M2I5:p.Arg366Cys chr17 36109337 36109340 VAR_038072 - Q2M2I5:p.Cys415Tyr chr17 36109328 36109331 VAR_038073 - Q2M2I5:p.Trp418Arg chr17 36109295 36109298 VAR_038074 - Q2M2I5:p.Lys429Glu chr17 36981299 36981302 VAR_036805 - P35527:p.Met157Arg chr17 36981299 36981302 VAR_010499 - P35527:p.Met157Thr chr17 36981299 36981302 VAR_010500 - P35527:p.Met157Val chr17 36981290 36981293 VAR_035438 - P35527:p.Leu160Phe chr17 36981290 36981293 VAR_010501 - P35527:p.Leu160Val chr17 36981287 36981290 VAR_036806 - P35527:p.Asn161His chr17 36981287 36981290 VAR_036807 - P35527:p.Asn161Ile chr17 36981287 36981290 VAR_003822 - P35527:p.Asn161Lys chr17 36981287 36981290 VAR_010502 - P35527:p.Asn161Ser chr17 36981287 36981290 VAR_010503 - P35527:p.Asn161Tyr chr17 36981281 36981284 VAR_036808 - P35527:p.Arg163Pro chr17 36981281 36981284 VAR_003823 - P35527:p.Arg163Gln chr17 36981281 36981284 VAR_003824 - P35527:p.Arg163Trp chr17 36981269 36981272 VAR_036809 - P35527:p.Tyr167Trp chr17 36981266 36981269 VAR_003825 - P35527:p.Leu168Ser chr17 36981257 36981260 VAR_035439 - P35527:p.Val171Met chr17 36981254 36981257 VAR_010504 - P35527:p.Gln172Pro chr17 36977959 36977962 VAR_036810 - P35527:p.Leu458Phe chr12 51456838 51456841 VAR_036368 - Q01546:p.Leu168Val chr12 51453659 51453662 VAR_028425 - Q01546:p.Ala283Thr chr12 51448793 51448796 VAR_028427 - Q01546:p.Thr629Met chr12 51360177 51360180 VAR_017819 - P04264:p.Lys74Ile chr12 51359934 51359937 VAR_017820 - P04264:p.Val155Asp chr12 51359934 51359937 VAR_003853 - P04264:p.Val155Gly chr12 51359916 51359919 VAR_003854 - P04264:p.Leu161Pro chr12 51359808 51359874 VAR_038627 - P04264:p.176_197del chr12 51359841 51359844 VAR_003855 - P04264:p.Ser186Pro chr12 51359835 51359838 VAR_017821 - P04264:p.Asn188Lys chr12 51359835 51359838 VAR_003856 - P04264:p.Asn188Ser chr12 51359835 51359838 VAR_017822 - P04264:p.Asn188Thr chr12 51359820 51359823 VAR_003857 - P04264:p.Ser193Pro chr12 51358756 51358759 VAR_017823 - P04264:p.Leu214Pro chr12 51357727 51357730 VAR_003858 - P04264:p.Ile312Val chr12 51357504 51357507 VAR_003859 - P04264:p.Ile330Thr chr12 51357474 51357477 VAR_017824 - P04264:p.Asp340Val chr12 51356438 51356441 VAR_038628 - P04264:p.Ala454Ser chr12 51356402 51356426 VAR_038629 - P04264:p.459_466del chr12 51356363 51356366 VAR_017825 - P04264:p.Ile479Phe chr12 51356363 51356366 VAR_017826 - P04264:p.Ile479Thr chr12 51356354 51356357 VAR_017827 - P04264:p.Tyr482Cys chr12 51356342 51356345 VAR_017828 - P04264:p.Leu486Pro chr12 51356330 51356333 VAR_003861 - P04264:p.Glu490Gln chr12 51355567 51355570 VAR_003862 - P04264:p.Gly537Cys chr12 51355480 51355501 VAR_003864 - P04264:p.560_566del chr12 51471282 51471285 VAR_031327 - P12035:p.Arg503Pro chr12 51471264 51471267 VAR_003868 - P12035:p.Glu509Lys chr12 51200272 51200275 VAR_010453 - P13647:p.Pro25Leu chr12 51200110 51200113 VAR_028763 - P13647:p.Ser79Arg chr12 51199933 51199936 VAR_003871 - P13647:p.Gly138Glu chr12 51199918 51199921 VAR_031640 - P13647:p.Val143Asp chr12 51199891 51199894 VAR_010454 - P13647:p.Pro152Leu chr12 51199873 51199876 VAR_031641 - P13647:p.Asp158Val chr12 51199864 51199867 VAR_003872 - P13647:p.Ile161Ser chr12 51199846 51199849 VAR_026536 - P13647:p.Glu167Lys chr12 51199843 51199846 VAR_027722 - P13647:p.Glu168Lys chr12 51199840 51199843 VAR_027723 - P13647:p.Arg169Pro chr12 51199837 51199840 VAR_026537 - P13647:p.Glu170Lys chr12 51199828 51199831 VAR_010455 - P13647:p.Lys173Asn chr12 51199822 51199825 VAR_010456 - P13647:p.Leu175Phe chr12 51199819 51199822 VAR_010457 - P13647:p.Asn176Ser chr12 51199816 51199819 VAR_026538 - P13647:p.Asn177Ser chr12 51199810 51199813 VAR_010458 - P13647:p.Phe179Ser chr12 51199804 51199807 VAR_010459 - P13647:p.Ser181Pro chr12 51199208 51199211 VAR_013829 - P13647:p.Val186Leu chr12 51199208 51199211 VAR_031642 - P13647:p.Val186Met chr12 51199196 51199199 VAR_027724 - P13647:p.Glu190Lys chr12 51199193 51199196 VAR_031643 - P13647:p.Gln191Pro chr12 51199187 51199190 VAR_003873 - P13647:p.Asn193Lys chr12 51199175 51199178 VAR_028764 - P13647:p.Asp197Glu chr12 51199169 51199172 VAR_026539 - P13647:p.Lys199Thr chr12 51199070 51199073 VAR_028765 - P13647:p.Ser232Asn chr12 51197799 51197802 VAR_026540 - P13647:p.Leu311Pro chr12 51197763 51197766 VAR_010460 - P13647:p.Val323Ala chr12 51197760 51197763 VAR_026541 - P13647:p.Val324Asp chr12 51197757 51197760 VAR_010461 - P13647:p.Leu325Pro chr12 51197751 51197754 VAR_010462 - P13647:p.Met327Lys chr12 51197751 51197754 VAR_003874 - P13647:p.Met327Thr chr12 51197748 51197751 VAR_026542 - P13647:p.Asp328Glu chr12 51197748 51197751 VAR_026543 - P13647:p.Asp328Gly chr12 51197748 51197751 VAR_010463 - P13647:p.Asp328His chr12 51197748 51197751 VAR_010464 - P13647:p.Asp328Val chr12 51197745 51197748 VAR_010465 - P13647:p.Asn329Lys chr12 51197739 51197742 VAR_003875 - P13647:p.Arg331Cys chr12 51197739 51197742 VAR_027725 - P13647:p.Arg331His chr12 51197676 51197679 VAR_031644 - P13647:p.Arg352Ser chr12 51197214 51197217 VAR_028766 - P13647:p.Ser387Thr chr12 51197163 51197166 VAR_023726 - P13647:p.Lys404Glu chr12 51196872 51196875 VAR_026544 - P13647:p.Glu418Lys chr12 51196812 51196815 VAR_023727 - P13647:p.Ala438Asp chr12 51196737 51196740 VAR_003876 - P13647:p.Leu463Pro chr12 51196725 51196728 VAR_010466 - P13647:p.Ile467Thr chr12 51196719 51196722 VAR_027726 - P13647:p.Thr469Pro chr12 51196701 51196704 VAR_003877 - P13647:p.Glu475Gly chr12 51196701 51196704 VAR_023728 - P13647:p.Glu475Lys chr12 51196695 51196698 VAR_010467 - P13647:p.Glu477Lys chr12 51195214 51195217 VAR_031645 - P13647:p.Gly517Asp chr12 51195181 51195184 VAR_028767 - P13647:p.Ser528Gly chr12 51195136 51195139 VAR_028768 - P13647:p.Gly543Ser chr12 51132066 51132069 VAR_021265 - P04259:p.Asn21Ser chr12 51127836 51127839 VAR_023062 - P04259:p.Glu472Lys chr12 51152325 51152328 VAR_035031 - P48668:p.Arg182Gln chr12 51152190 51152193 VAR_035032 - P48668:p.Ser227Asn chr12 51149477 51149480 VAR_035033 - P48668:p.Val481Ile chr12 51298392 51298395 VAR_038091 - Q86Y46:p.Val61Met chr12 51298287 51298290 VAR_038092 - Q86Y46:p.Pro96Leu chr12 51296242 51296245 VAR_038093 - Q86Y46:p.Arg212His chr12 51294704 51294707 VAR_038094 - Q86Y46:p.Thr248Met chr12 51291269 51291272 VAR_038095 - Q86Y46:p.Glu365Gly chr12 51528906 51528909 VAR_038109 - Q8N1N4:p.Arg25His chr12 51528705 51528708 VAR_038110 - Q8N1N4:p.Leu92Pro chr12 51526331 51526334 VAR_038111 - Q8N1N4:p.Gly224Ala chr12 51526289 51526292 VAR_038112 - Q8N1N4:p.Ala238Thr chr12 51584873 51584876 VAR_023058 - P05787:p.Gly53Val chr12 51584870 51584873 VAR_023059 - P05787:p.Tyr54Cys chr12 51584846 51584849 VAR_023060 - P05787:p.Gly62Cys chr12 51584843 51584846 VAR_023061 - P05787:p.Ile63Val chr12 46810441 46810444 VAR_006063 + P08237:p.Arg39Leu chr12 46810441 46810444 VAR_006064 + P08237:p.Arg39Pro chr12 46812977 46812980 VAR_006065 + P08237:p.Arg100Gln chr12 46814312 46814315 VAR_006066 + P08237:p.Gly209Asp chr12 46822089 46822092 VAR_006067 + P08237:p.Asp543Ala chr12 46825143 46825146 VAR_006068 + P08237:p.Trp686Cys chr12 46825173 46825176 VAR_006069 + P08237:p.Arg696His chr21 44556418 44556421 VAR_006070 + P17858:p.Gly81Ala chr21 44557311 44557314 VAR_006071 + P17858:p.Arg151Trp chr21 44558293 44558296 VAR_030872 + P17858:p.Asp237Val chr9 127710300 127710303 VAR_034046 - P00568:p.Glu123Gln chr9 127710285 127710288 VAR_004021 - P00568:p.Arg128Trp chr14 95940855 95940858 VAR_017059 + Q96M32:p.Arg102Gln chrX 8374862 8374865 VAR_031012 - P23352:p.Cys163Tyr chrX 8374862 8374865 VAR_031011 - P23352:p.163del chrX 8374835 8374838 VAR_031013 - P23352:p.Cys172Arg chrX 8363113 8363116 VAR_031014 - P23352:p.Arg262Pro chrX 8363098 8363101 VAR_007720 - P23352:p.Asn267Lys chrX 8348425 8348428 VAR_031015 - P23352:p.Asn304Ser chrX 8346027 8346030 VAR_031016 - P23352:p.Ser396Leu chrX 8314626 8314629 VAR_012742 - P23352:p.Glu514Lys chrX 8314617 8314620 VAR_031017 - P23352:p.Phe517Leu chrX 8314566 8314569 VAR_007721 - P23352:p.Val534Ile chrX 8313496 8313499 VAR_031018 - P23352:p.Trp571Arg chrX 8310816 8310819 VAR_031019 - P23352:p.Lys666Met chrX 8310810 8310813 VAR_031020 - P23352:p.Arg668His chr3 125470414 125470417 VAR_041898 + O60229:p.Ser196Leu chr3 125470465 125470468 VAR_035976 + O60229:p.Arg213Trp chr3 125664120 125664123 VAR_020192 + O60229:p.Glu1326Asp chr1 62440857 62440860 VAR_026902 - Q5T7N3:p.His822Arg chr1 62440803 62440806 VAR_026903 - Q5T7N3:p.Val840Ala chr1 62425242 62425245 VAR_026904 - Q5T7N3:p.Val935Leu chr9 68857809 68857812 VAR_040595 - P22612:p.Ile251Asn chr9 68857758 68857761 VAR_033902 - P22612:p.His268Asp chr10 102812564 102812567 VAR_022739 + Q96I82:p.Cys76Gly chr10 102814280 102814283 VAR_033628 + Q96I82:p.Gly236Asp chr10 102814337 102814340 VAR_033629 + Q96I82:p.Gly255Ala chr22 36528588 36528591 VAR_015094 + O75600:p.Arg39Cys chr10 70418789 70418792 VAR_023311 + Q96EK5:p.Gly66Ser chr7 32683570 32683573 VAR_037766 - Q8IY47:p.Gln166Lys chr7 32683501 32683504 VAR_037767 - Q8IY47:p.Glu189Gly chr7 32683489 32683492 VAR_037768 - Q8IY47:p.Thr193Pro chr7 32683306 32683309 VAR_037769 - Q8IY47:p.Pro254Arg chr7 32683165 32683168 VAR_037770 - Q8IY47:p.Pro301Arg chr7 32682466 32682469 VAR_037771 - Q8IY47:p.Leu534Ile chr7 32682286 32682289 VAR_037772 - Q8IY47:p.Ser594Tyr chr11 47551624 47551627 VAR_028046 - Q9NVX7:p.Asp330Asn chr13 36577378 36577381 VAR_042074 - Q8N752:p.Ser5Gly chr13 36577330 36577333 VAR_036450 - Q8N752:p.Arg21Gln chr13 36577330 36577333 VAR_042075 - Q8N752:p.Arg21Trp chr13 36576883 36576886 VAR_034047 - Q8N752:p.Arg170Ser chr13 36576862 36576865 VAR_042077 - Q8N752:p.Glu177Lys chr13 36576733 36576736 VAR_042078 - Q8N752:p.Pro220Leu chr13 36576703 36576706 VAR_042079 - Q8N752:p.Lys230Asn chr13 36576622 36576625 VAR_042080 - Q8N752:p.Ala257Thr chr17 77816905 77816908 VAR_029075 - P48730:p.Thr44Ala chr17 77806638 77806641 VAR_036451 - P48730:p.Ser97Cys chr17 77795990 77795993 VAR_042081 - P48730:p.Pro401Ala chr1 110772851 110772854 VAR_036778 - Q16322:p.Arg200His chr1 110772791 110772794 VAR_036779 - Q16322:p.Val220Met chr1 110772677 110772680 VAR_036780 - Q16322:p.Ser258Asn chr1 206171616 206171619 VAR_040600 + Q96NX5:p.Glu259Gln chr1 206173600 206173603 VAR_020530 + Q96NX5:p.Val329Ile chr1 206173942 206173945 VAR_040601 + Q96NX5:p.Ala443Thr chr4 114816116 114816119 VAR_040602 - Q13557:p.Asp167Glu chr4 114736138 114736141 VAR_028196 - Q13557:p.Gln463Glu chr4 114734535 114734538 VAR_040603 - Q13557:p.Thr493Ile chr17 7197048 7197051 VAR_027354 + Q693B1:p.Gly22Ser chr19 38984034 38984037 VAR_027090 + Q96SI1:p.Gly64Ser chr2 201180610 201180613 VAR_027355 - Q6PI47:p.Ala333Val chr2 201180601 201180604 VAR_027356 - Q6PI47:p.Gly336Cys chr2 201180439 201180442 VAR_027357 - Q6PI47:p.Cys390Ser chr2 201180370 201180373 VAR_027358 - Q6PI47:p.Ala413Val chr6 36554951 36554954 VAR_028854 + Q7Z5Y7:p.Ser171Thr chrX 108674052 108674055 VAR_034048 - Q9UJ90:p.Glu114Gln chr10 78520195 78520198 VAR_023821 - Q12791:p.Asp434Gly chr3 180451360 180451363 VAR_018173 - Q9NPA1:p.Asp44Gly chr3 180451333 180451336 VAR_018174 - Q9NPA1:p.Ala53Thr chr3 180451267 180451270 VAR_018175 - Q9NPA1:p.Leu75Val chr3 180443738 180443741 VAR_018176 - Q9NPA1:p.Asn165Ser chr3 180443543 180443546 VAR_018177 - Q9NPA1:p.Met230Thr chr12 69110661 69110664 VAR_018178 + Q86W47:p.Val199Ile chr19 54265935 54265938 VAR_036776 - Q96RP8:p.Pro189Arg chr19 54265248 54265251 VAR_036777 - Q96RP8:p.Met418Thr chr20 47423028 47423031 VAR_034049 - Q14721:p.Pro825Ser chr8 74011491 74011494 VAR_035774 + Q92953:p.Val450Ile chr8 74012112 74012115 VAR_034050 + Q92953:p.Glu657Gly chr19 55518761 55518764 VAR_029530 - Q14003:p.Arg420His chr19 55518677 55518680 VAR_029531 - Q14003:p.Phe448Leu chr1 110477900 110477903 VAR_034051 + Q03721:p.Asp318Tyr chr1 110478506 110478509 VAR_027505 + Q03721:p.Cys520Tyr chr1 112237108 112237111 VAR_035775 - Q9UK17:p.Val94Met chr21 34743781 34743784 VAR_008897 - P15382:p.Thr7Ile chr21 34743706 34743709 VAR_009906 - P15382:p.Arg32His chr21 34743688 34743691 VAR_001558 - P15382:p.Ser38Gly chr21 34743661 34743664 VAR_008898 - P15382:p.Val47Phe chr21 34743649 34743652 VAR_008899 - P15382:p.Leu51His chr21 34743625 34743631 VAR_001559 - P15382:p.Thr58_Leu59delinsProPro chr21 34743580 34743583 VAR_008900 - P15382:p.Ser74Leu chr21 34743574 34743577 VAR_008901 - P15382:p.Asp76Asn chr21 34743547 34743550 VAR_008902 - P15382:p.Asp85Asn chr21 34743541 34743544 VAR_008903 - P15382:p.Trp87Arg chr21 34743508 34743511 VAR_009907 - P15382:p.Arg98Trp chr21 34743475 34743478 VAR_012802 - P15382:p.Val109Ile chr21 34743421 34743424 VAR_009908 - P15382:p.Pro127Thr chr21 34664668 34664671 VAR_008375 + Q9Y6J6:p.Thr8Ala chr21 34664668 34664671 VAR_037794 + Q9Y6J6:p.Thr8Ile chr21 34664671 34664674 VAR_008376 + Q9Y6J6:p.Gln9Glu chr21 34664725 34664728 VAR_037795 + Q9Y6J6:p.Arg27Cys chr21 34664806 34664809 VAR_008377 + Q9Y6J6:p.Met54Thr chr21 34664815 34664818 VAR_008378 + Q9Y6J6:p.Ile57Thr chr21 34664824 34664827 VAR_029334 + Q9Y6J6:p.Phe60Leu chr21 34664839 34664842 VAR_015063 + Q9Y6J6:p.Val65Met chr21 34664842 34664845 VAR_022052 + Q9Y6J6:p.Ala66Val chr21 34664875 34664878 VAR_035386 + Q9Y6J6:p.Arg77Trp chr11 73846007 73846010 VAR_015064 - Q9Y6H6:p.Arg83His chr2 223743191 223743194 VAR_030620 + Q8WWG9:p.Gly47Ser chr7 150109666 150109669 VAR_008907 - Q12809:p.Phe29Leu chr7 150109654 150109657 VAR_008908 - Q12809:p.Asn33Thr chr7 150109612 150109615 VAR_009909 - Q12809:p.Gly47Val chr7 150109594 150109597 VAR_008909 - Q12809:p.Gly53Arg chr7 150109585 150109588 VAR_008910 - Q12809:p.Arg56Gln chr7 150109558 150109561 VAR_014371 - Q12809:p.Thr65Pro chr7 150109555 150109558 VAR_008911 - Q12809:p.Cys66Gly chr7 150109543 150109546 VAR_008912 - Q12809:p.His70Arg chr7 150109537 150109540 VAR_009910 - Q12809:p.Pro72Gln chr7 150109519 150109522 VAR_008913 - Q12809:p.Ala78Pro chr7 150109495 150109498 VAR_008914 - Q12809:p.Leu86Arg chr7 150109453 150109456 VAR_036669 - Q12809:p.Arg100Gly chr7 150093182 150093185 VAR_008915 - Q12809:p.Arg176Trp chr7 150093167 150093170 VAR_036670 - Q12809:p.Arg181Gln chr7 150093143 150093146 VAR_014372 - Q12809:p.Gly189Gly chr7 150092218 150092221 VAR_009911 - Q12809:p.Arg312Cys chr7 150092113 150092116 VAR_009912 - Q12809:p.Pro347Ser chr7 150087409 150087412 VAR_008916 - Q12809:p.Thr436Met chr7 150087364 150087367 VAR_014373 - Q12809:p.Pro451Leu chr7 150087307 150087310 VAR_008578 - Q12809:p.Asn470Asp chr7 150087295 150087298 VAR_008917 - Q12809:p.Thr474Ile chr7 150087247 150087250 VAR_036671 - Q12809:p.Ala490Thr chr7 150087193 150087220 VAR_009178 - Q12809:p.500_508del chr7 150086553 150086556 VAR_036672 - Q12809:p.Lys525Asn chr7 150086544 150086547 VAR_036673 - Q12809:p.Arg528Pro chr7 150086535 150086538 VAR_009913 - Q12809:p.Arg531Gln chr7 150086526 150086529 VAR_008579 - Q12809:p.Arg534Cys chr7 150086472 150086475 VAR_008918 - Q12809:p.Leu552Ser chr7 150086454 150086457 VAR_008919 - Q12809:p.Ala558Pro chr7 150086445 150086448 VAR_014374 - Q12809:p.Ala561Thr chr7 150086445 150086448 VAR_008580 - Q12809:p.Ala561Val chr7 150086436 150086439 VAR_008920 - Q12809:p.Leu564Pro chr7 150086421 150086424 VAR_008921 - Q12809:p.Tyr569His chr7 150086412 150086415 VAR_008923 - Q12809:p.Gly572Cys chr7 150086412 150086415 VAR_008922 - Q12809:p.Gly572Arg chr7 150086382 150086385 VAR_008581 - Q12809:p.Arg582Cys chr7 150086376 150086379 VAR_008924 - Q12809:p.Gly584Ser chr7 150086373 150086376 VAR_009914 - Q12809:p.Trp585Cys chr7 150086364 150086367 VAR_008925 - Q12809:p.Asn588Asp chr7 150086364 150086367 VAR_023840 - Q12809:p.Asn588Lys chr7 150086349 150086352 VAR_008582 - Q12809:p.Ile593Arg chr7 150086349 150086352 VAR_009915 - Q12809:p.Ile593Thr chr7 150086325 150086328 VAR_008926 - Q12809:p.Gly601Ser chr7 150086316 150086319 VAR_008927 - Q12809:p.Gly604Ser chr7 150086301 150086304 VAR_009916 - Q12809:p.Asp609Asn chr7 150086295 150086298 VAR_008928 - Q12809:p.Tyr611His chr7 150086292 150086295 VAR_008929 - Q12809:p.Val612Leu chr7 150086289 150086292 VAR_008930 - Q12809:p.Thr613Met chr7 150086286 150086289 VAR_008931 - Q12809:p.Ala614Val chr7 150086283 150086286 VAR_014375 - Q12809:p.Leu615Val chr7 150086250 150086253 VAR_014376 - Q12809:p.Gly626Ser chr7 150086247 150086250 VAR_014377 - Q12809:p.Phe627Leu chr7 150086244 150086247 VAR_008583 - Q12809:p.Gly628Ser chr7 150086241 150086244 VAR_008932 - Q12809:p.Asn629Asp chr7 150086241 150086244 VAR_008933 - Q12809:p.Asn629Lys chr7 150086241 150086244 VAR_009179 - Q12809:p.Asn629Ser chr7 150086238 150086241 VAR_008935 - Q12809:p.Val630Ala chr7 150086238 150086241 VAR_008934 - Q12809:p.Val630Leu chr7 150086232 150086235 VAR_014378 - Q12809:p.Pro632Ser chr7 150086229 150086232 VAR_008936 - Q12809:p.Asn633Ser chr7 150086217 150086220 VAR_014379 - Q12809:p.Glu637Lys chr7 150086214 150086217 VAR_014380 - Q12809:p.Lys638Glu chr7 150086214 150086217 VAR_014381 - Q12809:p.638del chr7 150086208 150086211 VAR_008937 - Q12809:p.Phe640Leu chr7 150086193 150086196 VAR_014382 - Q12809:p.Met645Leu chr7 150085713 150085716 VAR_036674 - Q12809:p.Arg696Cys chr7 150085045 150085048 VAR_036675 - Q12809:p.Arg752Gln chr7 150085045 150085048 VAR_014383 - Q12809:p.Arg752Trp chr7 150084949 150084952 VAR_036676 - Q12809:p.Arg784Trp chr7 150083768 150083771 VAR_014384 - Q12809:p.Phe805Cys chr7 150083768 150083771 VAR_014385 - Q12809:p.Phe805Ser chr7 150083729 150083732 VAR_008938 - Q12809:p.Ser818Leu chr7 150083717 150083720 VAR_008584 - Q12809:p.Val822Met chr7 150083714 150083717 VAR_014386 - Q12809:p.Arg823Trp chr7 150083600 150083603 VAR_014387 - Q12809:p.Asn861Ile chr7 150083180 150083183 VAR_014388 - Q12809:p.Lys897Thr chr7 150082555 150082558 VAR_014389 - Q12809:p.Pro917Leu chr7 150082540 150082543 VAR_014390 - Q12809:p.Arg922Trp chr7 150082462 150082465 VAR_036677 - Q12809:p.Arg948Cys chr7 150082167 150082170 VAR_036679 - Q12809:p.Pro1016Leu chr7 150082167 150082170 VAR_036678 - Q12809:p.Pro1016Ser chr7 150082155 150082158 VAR_036680 - Q12809:p.Pro1020Ser chr7 150082137 150082140 VAR_036681 - Q12809:p.Pro1026Leu chr7 150081777 150081780 VAR_036682 - Q12809:p.Arg1055Gln chr17 37569235 37569238 VAR_035771 - Q9UQ05:p.Gly797Arg chr11 63823573 63823576 VAR_020206 + Q9NYG8:p.Pro328Leu chr14 89721037 89721040 VAR_034052 + Q9HB14:p.Gly389Ala chr20 42812680 42812683 VAR_014213 + Q9H427:p.Pro261His chr6 39390011 39390014 VAR_032362 - Q96T54:p.Ser21Gly chr6 39375420 39375423 VAR_032363 - Q96T54:p.Met253Leu chr6 39375291 39375294 VAR_024683 - Q96T54:p.Arg296Gln chr10 118947160 118947163 VAR_037521 + Q7Z418:p.Phe58Tyr chr10 118959236 118959239 VAR_037522 + Q7Z418:p.Ala198Gly chr10 118959335 118959338 VAR_037523 + Q7Z418:p.Ser231Pro chr10 118959341 118959344 VAR_037524 + Q7Z418:p.Ala233Val chr10 118959407 118959410 VAR_037525 + Q7Z418:p.Glu255Lys chr10 118959680 118959683 VAR_037526 + Q7Z418:p.Val346Ile chr11 2423114 2423123 VAR_009917 + P51787:p.71_73del chr11 2423234 2423237 VAR_009918 + P51787:p.Tyr111Cys chr11 2505764 2505767 VAR_015742 + P51787:p.Ser140Gly chr11 2505815 2505818 VAR_008124 + P51787:p.Phe157Cys chr11 2548433 2548436 VAR_009919 + P51787:p.Glu160Lys chr11 2548454 2548460 VAR_001515 + P51787:p.Phe167_Gly168delinsTrp chr11 2548457 2548460 VAR_001516 + P51787:p.Gly168Arg chr11 2548475 2548478 VAR_001517 + P51787:p.Arg174Cys chr11 2548475 2548478 VAR_008939 + P51787:p.Arg174His chr11 2548487 2548490 VAR_001518 + P51787:p.Ala178Pro chr11 2548487 2548490 VAR_009920 + P51787:p.Ala178Thr chr11 2548490 2548493 VAR_009921 + P51787:p.Gly179Ser chr11 2548505 2548508 VAR_008125 + P51787:p.Tyr184Ser chr11 2548520 2548523 VAR_001519 + P51787:p.Gly189Arg chr11 2548523 2548526 VAR_001520 + P51787:p.Arg190Gln chr11 2548535 2548538 VAR_009922 + P51787:p.Ala194Pro chr11 2549171 2549174 VAR_001521 + P51787:p.Gly216Arg chr11 2549198 2549201 VAR_009923 + P51787:p.Ser225Leu chr11 2549858 2549861 VAR_008940 + P51787:p.Asp242Asn chr11 2549861 2549864 VAR_010933 + P51787:p.Arg243Cys chr11 2549861 2549864 VAR_008941 + P51787:p.Arg243His chr11 2549876 2549879 VAR_008942 + P51787:p.Trp248Arg chr11 2549882 2549885 VAR_008943 + P51787:p.Leu250His chr11 2549894 2549897 VAR_001522 + P51787:p.Val254Met chr11 2550651 2550654 VAR_008944 + P51787:p.Glu261Asp chr11 2550651 2550654 VAR_001523 + P51787:p.Glu261Lys chr11 2550666 2550669 VAR_009924 + P51787:p.Leu266Pro chr11 2550675 2550678 VAR_001524 + P51787:p.Gly269Asp chr11 2550675 2550678 VAR_009925 + P51787:p.Gly269Ser chr11 2550687 2550690 VAR_001525 + P51787:p.Leu273Phe chr11 2550711 2550714 VAR_008945 + P51787:p.Tyr281Cys chr11 2550768 2550771 VAR_001526 + P51787:p.Ala300Thr chr11 2550783 2550786 VAR_001527 + P51787:p.Trp305Ser chr11 2550786 2550789 VAR_001528 + P51787:p.Gly306Arg chr11 2550789 2550792 VAR_023841 + P51787:p.Val307Leu chr11 2561243 2561246 VAR_001529 + P51787:p.Thr309Arg chr11 2561246 2561249 VAR_009926 + P51787:p.Val310Ile chr11 2561249 2561252 VAR_009927 + P51787:p.Thr311Ile chr11 2561252 2561255 VAR_001530 + P51787:p.Thr312Ile chr11 2561255 2561258 VAR_001531 + P51787:p.Ile313Met chr11 2561258 2561261 VAR_001532 + P51787:p.Gly314Ser chr11 2561261 2561264 VAR_008946 + P51787:p.Tyr315Cys chr11 2561261 2561264 VAR_001533 + P51787:p.Tyr315Ser chr11 2561267 2561270 VAR_001534 + P51787:p.Asp317Asn chr11 2561270 2561273 VAR_008947 + P51787:p.Lys318Asn chr11 2561276 2561279 VAR_001535 + P51787:p.Pro320Ala chr11 2561291 2561294 VAR_001536 + P51787:p.Gly325Arg chr11 2561333 2561336 VAR_001537 + P51787:p.339del chr11 2561339 2561342 VAR_001538 + P51787:p.Ala341Glu chr11 2561339 2561342 VAR_001539 + P51787:p.Ala341Val chr11 2561342 2561345 VAR_001540 + P51787:p.Leu342Phe chr11 2561348 2561351 VAR_001541 + P51787:p.Ala344Val chr11 2563017 2563020 VAR_001542 + P51787:p.Gly345Glu chr11 2563017 2563020 VAR_008126 + P51787:p.Gly345Arg chr11 2563029 2563032 VAR_009928 + P51787:p.Ser349Trp chr11 2563041 2563044 VAR_009180 + P51787:p.Leu353Pro chr11 2563080 2563083 VAR_001543 + P51787:p.Arg366Pro chr11 2563080 2563083 VAR_009929 + P51787:p.Arg366Gln chr11 2563080 2563083 VAR_008948 + P51787:p.Arg366Trp chr11 2563095 2563098 VAR_001544 + P51787:p.Ala371Thr chr11 2563101 2563104 VAR_008127 + P51787:p.Ser373Pro chr11 2565417 2565420 VAR_009930 + P51787:p.Thr391Ile chr11 2565420 2565423 VAR_008128 + P51787:p.Trp392Arg chr11 2565495 2565498 VAR_010934 + P51787:p.Val417Met chr11 2566608 2566611 VAR_009931 + P51787:p.Pro448Arg chr11 2746707 2746710 VAR_009181 + P51787:p.Ala525Thr chr11 2753771 2753774 VAR_008949 + P51787:p.Arg533Trp chr11 2753789 2753792 VAR_008950 + P51787:p.Arg539Trp chr11 2753837 2753840 VAR_001545 + P51787:p.Arg555Cys chr11 2754801 2754804 VAR_009932 + P51787:p.Ser566Phe chr11 2755795 2755798 VAR_009933 + P51787:p.Arg583Cys chr11 2755807 2755810 VAR_008951 + P51787:p.Thr587Met chr11 2755813 2755816 VAR_008952 + P51787:p.Gly589Asp chr11 2755819 2755822 VAR_008953 + P51787:p.Arg591His chr11 2755828 2755831 VAR_009934 + P51787:p.Arg594Gln chr11 2825704 2825707 VAR_008954 + P51787:p.Gly643Ser chr20 61546524 61546527 VAR_043819 - O43526:p.Arg207Gln chr20 61546524 61546527 VAR_026987 - O43526:p.Arg207Trp chr20 61546521 61546524 VAR_026988 - O43526:p.Met208Val chr20 61546503 61546506 VAR_010929 - O43526:p.Arg214Trp chr20 61546461 61546464 VAR_026989 - O43526:p.His228Gln chr20 61544289 61544292 VAR_026990 - O43526:p.Leu243Phe chr20 61544277 61544280 VAR_026991 - O43526:p.Ser247Trp chr20 61541469 61541472 VAR_010930 - O43526:p.Tyr284Cys chr20 61541403 61541406 VAR_010931 - O43526:p.Ala306Thr chr20 61540445 61540448 VAR_026992 - O43526:p.Arg333Gln chr20 61515347 61515350 VAR_026993 - O43526:p.Lys554Asn chr20 61508719 61508722 VAR_010932 - O43526:p.Asn780Thr chr8 133256899 133256902 VAR_026994 - O43525:p.Asp305Gly chr8 133256887 133256890 VAR_010935 - O43525:p.Trp309Arg chr8 133256884 133256887 VAR_001546 - O43525:p.Gly310Val chr8 133222618 133222621 VAR_026995 - O43525:p.Asn468Ser chr1 40954222 40954225 VAR_010936 + P56696:p.Leu274His chr1 40954228 40954231 VAR_008726 + P56696:p.Trp276Ser chr1 40954645 40954648 VAR_010937 + P56696:p.Leu281Ser chr1 40954657 40954660 VAR_008727 + P56696:p.Gly285Cys chr1 40954657 40954660 VAR_001547 + P56696:p.Gly285Ser chr1 40954944 40954947 VAR_008728 + P56696:p.Gly321Ser chr6 73808460 73808463 VAR_035772 + Q9NR82:p.Trp191Gly chr6 73843878 73843881 VAR_035773 + Q9NR82:p.Arg244Cys chr20 43157038 43157041 VAR_020052 - Q96KK3:p.Ile489Val chr1 193193124 193193127 VAR_037527 - Q6UVM3:p.Val33Ile chr1 193099404 193099407 VAR_037528 - Q6UVM3:p.Cys413Trp chr1 193099356 193099359 VAR_037529 - Q6UVM3:p.Lys429Asn chr9 2708114 2708117 VAR_027632 + Q8TDN2:p.Leu126Gln chr9 2708300 2708303 VAR_027633 + Q8TDN2:p.Trp188Cys chr9 2708504 2708507 VAR_027634 + Q8TDN2:p.Ser256Trp chr9 2708513 2708516 VAR_027635 + Q8TDN2:p.Ala259Val chr9 2708753 2708762 VAR_027636 + Q8TDN2:p.339_341del chr9 2719463 2719466 VAR_027637 + Q8TDN2:p.Gly459Asp chr9 2719685 2719688 VAR_027638 + Q8TDN2:p.Leu533Val chr14 103057474 103057477 VAR_025838 - P12277:p.Lys177Arg chr14 103056251 103056254 VAR_025839 - P12277:p.Ser309Leu chr19 50513021 50513024 VAR_018680 - P06732:p.Glu83Gly chr19 50510662 50510665 VAR_018681 - P06732:p.Leu127Val chr19 50503554 50503557 VAR_018682 - P06732:p.Gly243Ala chr1 212129447 212129450 VAR_027156 + Q9Y597:p.Phe9Val chr4 44018169 44018172 VAR_027692 - Q6ZWB6:p.Pro329Leu chr13 102247200 102247203 VAR_027080 - Q6UW63:p.Ile114Val chr11 107857257 107857260 VAR_027086 - Q7Z4H8:p.Arg319Leu chr7 142172263 142172266 VAR_016265 - P23276:p.Ala163Thr chr7 142171882 142171885 VAR_006731 - P23276:p.Arg180Pro chr7 142171843 142171846 VAR_006732 - P23276:p.Thr193Met chr7 142168287 142168290 VAR_015120 - P23276:p.Arg248Gln chr7 142168284 142168287 VAR_015121 - P23276:p.Glu249Lys chr7 142168188 142168191 VAR_006734 - P23276:p.Arg281Gln chr7 142168188 142168191 VAR_006733 - P23276:p.Arg281Trp chr7 142168125 142168128 VAR_006735 - P23276:p.Val302Ala chr7 142167838 142167841 VAR_015122 - P23276:p.Ala322Val chr7 142166489 142166492 VAR_015123 - P23276:p.Gln382Arg chr7 142160226 142160229 VAR_015124 - P23276:p.Arg406Gln chr7 142158261 142158264 VAR_015125 - P23276:p.Arg492Gln chr7 142158255 142158258 VAR_006736 - P23276:p.Glu494Val chr7 142157468 142157471 VAR_015126 - P23276:p.His548Arg chr7 142156948 142156951 VAR_006737 - P23276:p.Leu597Pro chr7 142155196 142155199 VAR_016266 - P23276:p.Ser726Ala chr12 89951881 89951884 VAR_012753 - O60938:p.Thr215Lys chr12 89951821 89951824 VAR_013564 - O60938:p.Val235Gly chr12 89951785 89951788 VAR_012754 - O60938:p.Asn247Ser chr6 62465086 62465089 VAR_036885 - Q5VWX1:p.Gly308Ala chr2 27226875 27226878 VAR_006072 + P50053:p.Gly40Arg chr2 27226884 27226887 VAR_006073 + P50053:p.Ala43Thr chr2 27226902 27226905 VAR_006074 + P50053:p.Val49Ile chr2 27232078 27232081 VAR_006075 + P50053:p.Arg159Gly chr6 17881766 17881769 VAR_029389 - Q9H1H9:p.Met1415Val chr20 16308330 16308333 VAR_036218 - Q96L93:p.Lys772Thr chr20 16308174 16308177 VAR_019396 - Q96L93:p.Arg824Ser chr20 16307565 16307568 VAR_019397 - Q96L93:p.Met1027Thr chr20 16300399 16300402 VAR_019398 - Q96L93:p.Asn1119Ser chr11 28014530 28014533 VAR_038354 - Q8NI77:p.Ile735Val chr12 38038393 38038396 VAR_019399 - Q7Z4S6:p.Met356Thr chr12 38012674 38012677 VAR_019400 - Q7Z4S6:p.Met947Arg chr12 38012674 38012677 VAR_027021 - Q7Z4S6:p.Met947Thr chr12 38012674 38012677 VAR_019401 - Q7Z4S6:p.Met947Val chr12 38012471 38012474 VAR_019402 - Q7Z4S6:p.Arg954Gln chr12 38012471 38012474 VAR_019403 - Q7Z4S6:p.Arg954Trp chr12 38012303 38012306 VAR_019404 - Q7Z4S6:p.Ile1010Thr chr19_random 168080 168083 VAR_021929 + P43627:p.Arg37Pro chr19 59941846 59941849 VAR_010313 + P43628:p.Val9Ala chr19 59945260 59945263 VAR_010314 + P43628:p.Leu32Arg chr19 59945266 59945269 VAR_015967 + P43628:p.His34Gln chr19 59945332 59945335 VAR_010315 + P43628:p.Gln56Glu chr19 59945377 59945380 VAR_010316 + P43628:p.His71Arg chr19 59950618 59950621 VAR_015968 + P43628:p.Pro229Leu chr19 59954920 59954923 VAR_015969 + P43628:p.Arg242Ile chr19 59955666 59955669 VAR_015970 + P43628:p.Ala304Thr chr19 59955708 59955711 VAR_010317 + P43628:p.Arg318His chr19_random 282778 282781 VAR_020090 + P43631:p.Lys237Glu chr19 60019770 60019773 VAR_010319 + P43629:p.Ser2Leu chr19 60020802 60020805 VAR_010320 + P43629:p.Leu13Phe chr19 60020832 60020835 VAR_010321 + P43629:p.Met23Val chr19 60021712 60021715 VAR_010322 + P43629:p.Ile68Val chr19 60021733 60021736 VAR_010323 + P43629:p.Ile75Leu chr19 60024950 60024953 VAR_010336 + P43629:p.Gly259Arg chr19 60028341 60028344 VAR_010324 + P43629:p.Ser333Cys chr19 60055311 60055314 VAR_010325 + P43630:p.Pro40Ala chr19 60055530 60055533 VAR_010326 + P43630:p.Leu113Val chr19 60057129 60057132 VAR_010327 + P43630:p.Glu158Asp chr19 60057153 60057156 VAR_010328 + P43630:p.Arg166His chr19 60058911 60058914 VAR_010329 + P43630:p.Ala228Pro chr19 60058983 60058986 VAR_010330 + P43630:p.Ile252Thr chr19_random 153824 153827 VAR_019426 + Q8N743:p.Ile168Val chr10 129807548 129807551 VAR_029055 - P46013:p.Asn104Ser chr10 129803947 129803950 VAR_029056 - P46013:p.Trp238Arg chr10 129801845 129801848 VAR_029057 - P46013:p.Glu497Asp chr10 129800633 129800636 VAR_029058 - P46013:p.Gln574Pro chr10 129800462 129800465 VAR_024161 - P46013:p.Ile631Leu chr10 129797597 129797600 VAR_033995 - P46013:p.Arg832Trp chr10 129797531 129797534 VAR_024162 - P46013:p.Leu854Val chr10 129797477 129797480 VAR_029059 - P46013:p.Ala872Val chr10 129796967 129796970 VAR_024163 - P46013:p.Gly1042Ser chr10 129796733 129796736 VAR_029060 - P46013:p.Thr1120Ser chr10 129796352 129796355 VAR_021838 - P46013:p.Thr1247Ile chr10 129795884 129795887 VAR_020047 - P46013:p.Glu1403Val chr10 129795683 129795686 VAR_029061 - P46013:p.Leu1470Trp chr10 129795416 129795419 VAR_029062 - P46013:p.Val1559Met chr10 129795227 129795230 VAR_029063 - P46013:p.Pro1622Leu chr10 129794546 129794549 VAR_029064 - P46013:p.Thr1849Ala chr10 129794465 129794468 VAR_029065 - P46013:p.Arg1876Gln chr10 129794240 129794243 VAR_033996 - P46013:p.Leu1951Ile chr10 129793790 129793793 VAR_029066 - P46013:p.Ile2101Thr chr10 129793082 129793085 VAR_024164 - P46013:p.Thr2337Asn chr10 129793004 129793007 VAR_029067 - P46013:p.Asn2363Ser chr10 129792269 129792272 VAR_024165 - P46013:p.Pro2608Leu chr10 129792146 129792149 VAR_029068 - P46013:p.Arg2649His chr10 129791933 129791936 VAR_024166 - P46013:p.Thr2720Pro chr10 129791813 129791816 VAR_029069 - P46013:p.Asp2760Gly chr10 129791735 129791738 VAR_029070 - P46013:p.Arg2786Gln chr10 129791714 129791717 VAR_029071 - P46013:p.Ser2793Asn chr10 129791558 129791561 VAR_029072 - P46013:p.Arg2845His chr10 129791489 129791492 VAR_024167 - P46013:p.Thr2868Ser chr10 129791381 129791384 VAR_029073 - P46013:p.Gln2904Arg chr10 129789925 129789928 VAR_029074 - P46013:p.Asn3097Asp chr10 129789910 129789913 VAR_033997 - P46013:p.Glu3102Gly chr10 129789766 129789769 VAR_014858 - P46013:p.Thr3150Ser chr10 129789565 129789568 VAR_014859 - P46013:p.Lys3217Glu chr1 197254220 197254223 VAR_037777 - Q15058:p.Pro1633Ala chr17 69858462 69858465 VAR_030719 + Q2TAC6:p.Arg471Trp chr1 10252924 10252927 VAR_011515 + O60333:p.Gln98Leu chr9 83748347 83748350 VAR_035361 - Q86VH2:p.Ile213Val chr9 83748086 83748089 VAR_035362 - Q86VH2:p.Arg300Gln chr17 49255726 49255729 VAR_028717 + Q8N4N8:p.Ala112Val chr17 49255774 49255777 VAR_028718 + Q8N4N8:p.Gly128Arg chrX 69344799 69344802 VAR_021828 + O95239:p.Leu422Trp chr12 56249063 56249066 VAR_032842 + Q12840:p.Asn256Ser chr12 56249311 56249314 VAR_033108 + Q12840:p.Tyr276Cys chr12 56249323 56249326 VAR_032843 + Q12840:p.Arg280Cys chr12 56249696 56249699 VAR_032844 + Q12840:p.Ala361Val chr6 39653832 39653835 VAR_036217 - Q6ZMV9:p.Ala386Glu chr6 39433053 39433056 VAR_022810 - Q6ZMV9:p.Trp719Arg chr3 47291843 47291846 VAR_022139 - Q9HAQ2:p.Val78Ile chr3 47290123 47290126 VAR_020443 - Q9HAQ2:p.Gly96Ala chr12 108475404 108475407 VAR_010956 + Q03426:p.His20Asn chr12 108475404 108475407 VAR_004022 + Q03426:p.His20Pro chr12 108475404 108475407 VAR_029519 + Q03426:p.His20Gln chr12 108476558 108476561 VAR_010957 + Q03426:p.Leu39Pro chr12 108476597 108476600 VAR_010958 + Q03426:p.Ser52Asn chr19 869602 869605 VAR_043906 + Q969F8:p.Leu102Pro chr19 870561 870564 VAR_021392 + Q969F8:p.Leu148Ser chr19 871034 871037 VAR_021393 + Q969F8:p.Cys223Arg chr19 871439 871442 VAR_021394 + Q969F8:p.Arg297Leu chr19 871640 871643 VAR_021395 + Q969F8:p.Leu364His chr19 871706 871709 VAR_043907 + Q969F8:p.Arg386Pro chr4 55434364 55434367 VAR_042021 + P10721:p.Val532Ile chr4 55434391 55434394 VAR_042022 + P10721:p.Met541Leu chr4 55434509 55434536 VAR_033124 + P10721:p.550_558del chr4 55434509 55434512 VAR_033123 + P10721:p.Lys550Ile chr4 55434512 55434527 VAR_033125 + P10721:p.551_555del chr4 55434536 55434542 VAR_033128 + P10721:p.559_560del chr4 55434536 55434539 VAR_033126 + P10721:p.Val559Ala chr4 55434536 55434539 VAR_033127 + P10721:p.Val559Asp chr4 55434536 55434539 VAR_007965 + P10721:p.559del chr4 55434608 55434611 VAR_004104 + P10721:p.Glu583Lys chr4 55434611 55434614 VAR_033129 + P10721:p.Phe584Cys chr4 55434611 55434614 VAR_004105 + P10721:p.Phe584Leu chr4 55434942 55434945 VAR_033130 + P10721:p.Gly601Arg chr4 55435190 55435193 VAR_033131 + P10721:p.Leu656Pro chr4 55435214 55435215 VAR_004106 + P10721:p.Gly664Arg chr4 55436428 55436430 VAR_004106 + P10721:p.Gly664Arg chr4 55436508 55436511 VAR_042023 + P10721:p.Cys691Ser chr4 55438422 55438425 VAR_042024 + P10721:p.Ser715Asn chr4 55438488 55438491 VAR_042025 + P10721:p.Asp737Asn chr4 55440172 55440175 VAR_004107 + P10721:p.Arg791Gly chr4 55440187 55440190 VAR_033132 + P10721:p.Arg796Gly chr4 55440211 55440214 VAR_042026 + P10721:p.Arg804Trp chr4 55440235 55440238 VAR_004108 + P10721:p.Gly812Val chr4 55440247 55440250 VAR_033133 + P10721:p.Asp816Phe chr4 55440247 55440250 VAR_033134 + P10721:p.Asp816His chr4 55440247 55440250 VAR_004109 + P10721:p.Asp816Val chr4 55440247 55440250 VAR_023828 + P10721:p.Asp816Tyr chr4 55440259 55440262 VAR_033135 + P10721:p.Asp820Gly chr4 55440265 55440268 VAR_023829 + P10721:p.Asn822Lys chr4 55443591 55443594 VAR_023830 + P10721:p.Ala829Pro chr4 55443621 55443624 VAR_033136 + P10721:p.Glu839Lys chr4 55443645 55443648 VAR_033137 + P10721:p.Thr847Pro chr4 55443894 55443906 VAR_004110 + P10721:p.893_896del chr12 120175019 120175022 VAR_032788 - Q96RR4:p.Ser10Asn chr12 120174680 120174683 VAR_040610 - Q96RR4:p.Cys123Tyr chr12 120174668 120174671 VAR_040611 - Q96RR4:p.Pro127Leu chr12 120170077 120170080 VAR_040612 - Q96RR4:p.Ala182Thr chr12 120153813 120153816 VAR_020533 - Q96RR4:p.Arg363Cys chr12 120145739 120145742 VAR_040613 - Q96RR4:p.Arg492His chr16 86353078 86353081 VAR_033986 - Q8TBB5:p.Leu56Val chr16 86339820 86339823 VAR_033987 - Q8TBB5:p.Leu155Val chr1 157881908 157881911 VAR_034873 + Q8NEP7:p.Ser171Arg chr1 157882634 157882637 VAR_034874 + Q8NEP7:p.Asn288Ser chr2 10137015 10137018 VAR_031522 + O14901:p.Gln62Arg chr2 10138719 10138722 VAR_031523 + O14901:p.Thr220Met chr2 10139100 10139103 VAR_031524 + O14901:p.Ala347Ser chr1 44264501 44264504 VAR_026198 + Q5JT82:p.Asn156Ser chr13 72534638 72534641 VAR_035555 + Q13887:p.Pro301Ser chr19 18640830 18640833 VAR_026861 + Q53HC5:p.Val542Met chr4 38927555 38927558 VAR_033985 + Q96PQ7:p.Gly508Ser chr4 88442387 88442390 VAR_030012 - Q9P2G9:p.Pro520Arg chr19 56219851 56219854 VAR_021943 - Q9UBX7:p.Gly49Glu chr19 56219173 56219176 VAR_024296 - Q9UBX7:p.Arg166Cys chr19 56022024 56022027 VAR_020179 - Q9H2R5:p.Pro134Leu chr19 56022015 56022018 VAR_036298 - Q9H2R5:p.Ala137Thr chr19 56069793 56069796 VAR_014164 + P20151:p.Val18Leu chr19 56073588 56073591 VAR_020178 + P20151:p.Arg250Trp chr4 39271093 39271096 VAR_034053 + Q86Z14:p.Arg728Gln chr4 39271150 39271153 VAR_034054 + Q86Z14:p.Ala747Val chr4 39272794 39272797 VAR_034055 + Q86Z14:p.Gln1020Lys chr13 32488620 32488623 VAR_023582 + Q9UEF7:p.Pro15Gln chr13 32488710 32488713 VAR_023583 + Q9UEF7:p.Phe45Val chr13 32526137 32526140 VAR_023584 + Q9UEF7:p.Phe352Val chr13 32526191 32526194 VAR_023585 + Q9UEF7:p.Cys370Ser chr13 32536143 32536146 VAR_036449 + Q9UEF7:p.Pro954Leu chr12 9641934 9641937 VAR_028981 - Q12918:p.Ile168Thr chr1 238081388 238081391 VAR_030845 + O15229:p.Arg452Cys chrX 71660479 71660482 VAR_020856 - P46020:p.Asp299Val chrX 18732151 18732154 VAR_024563 - P46019:p.Glu38Gln chrX 18728936 18728939 VAR_006177 - P46019:p.His132Pro chrX 18728936 18728939 VAR_006178 - P46019:p.His132Tyr chrX 18728909 18728912 VAR_006179 - P46019:p.141del chrX 18722912 18722915 VAR_006180 - P46019:p.Arg186Cys chrX 18722912 18722915 VAR_006181 - P46019:p.Arg186His chrX 18722900 18722906 VAR_012270 - P46019:p.189_190del chrX 18722903 18722906 VAR_012269 - P46019:p.Lys189Glu chrX 18722891 18722894 VAR_012271 - P46019:p.Gly193Val chrX 18719414 18719417 VAR_006182 - P46019:p.251del chrX 18717802 18717805 VAR_012272 - P46019:p.Arg295His chrX 18717790 18717793 VAR_006183 - P46019:p.Asp299Gly chrX 18709463 18709466 VAR_012273 - P46019:p.Pro399Ser chrX 18685716 18685740 VAR_012274 - P46019:p.818_825del chrX 18683578 18683584 VAR_012275 - P46019:p.Asn953_Leu954delinsIle chrX 18672915 18672918 VAR_006184 - P46019:p.Arg1111Arg chrX 18672173 18672176 VAR_006185 - P46019:p.Thr1114Ile chrX 18672140 18672143 VAR_012276 - P46019:p.Glu1125Lys chrX 18671352 18671355 VAR_006186 - P46019:p.Pro1205Leu chrX 18671346 18671349 VAR_012277 - P46019:p.Gly1207Trp chr16 46094448 46094451 VAR_015536 + Q93100:p.Ala118Pro chr16 46242330 46242333 VAR_020857 + Q93100:p.Gln657Lys chr16 46255117 46255120 VAR_006187 + Q93100:p.Tyr770Cys chr16 46260656 46260659 VAR_034056 + Q93100:p.Glu820Val chr16 46260797 46260800 VAR_036486 + Q93100:p.Leu867Val chr16 46260827 46260829 VAR_036487 + Q93100:p.Gly877Arg chr16 46280452 46280453 VAR_036487 + Q93100:p.Gly877Arg chr14 29205112 29205115 VAR_035468 - Q15139:p.His152Tyr chr14 29202676 29202679 VAR_042324 - Q15139:p.Ser225Pro chr14 29169936 29169939 VAR_042325 - Q15139:p.Lys478Gln chr14 29165483 29165486 VAR_042326 - Q15139:p.Pro585Ser chr14 29138648 29138651 VAR_042327 - Q15139:p.Arg677Met chr14 29138642 29138645 VAR_042328 - Q15139:p.Pro679Leu chr14 29116362 29116365 VAR_035469 - Q15139:p.Glu857Lys chr14 29116260 29116263 VAR_042329 - Q15139:p.His891Arg chr2 37455192 37455195 VAR_037147 - O94806:p.Asn42Asp chr2 37431969 37431972 VAR_037148 - O94806:p.Ala128Thr chr2 37413227 37413230 VAR_037149 - O94806:p.Gln546Arg chr2 37395720 37395723 VAR_042336 - O94806:p.Val716Met chr2 46115232 46115235 VAR_035466 + Q02156:p.Glu143Lys chr2 46143361 46143364 VAR_042307 + Q02156:p.Ala333Val chr2 46146352 46146355 VAR_042308 + Q02156:p.Pro389Arg chr2 46283976 46283979 VAR_042309 + Q02156:p.Thr563Met chr19 59084718 59084721 VAR_017060 + P05129:p.His101Tyr chr19 59084772 59084775 VAR_017061 + P05129:p.Ser119Pro chr19 59084799 59084802 VAR_017062 + P05129:p.Gly128Asp chr19 59084974 59084977 VAR_008755 + P05129:p.Arg141Cys chr19 59093655 59093658 VAR_008756 + P05129:p.His415Gln chr19 59095806 59095809 VAR_008757 + P05129:p.Ala523Asp chr19 59101841 59101844 VAR_008758 + P05129:p.Arg659Ser chr10 6573720 6573723 VAR_042319 - Q04759:p.Lys240Asn chr10 6567219 6567222 VAR_042320 - Q04759:p.Asp306Val chr10 6567147 6567150 VAR_020401 - Q04759:p.Pro330Leu chr10 6565524 6565527 VAR_042321 - Q04759:p.Asp354Asn chr1 149545176 149545179 VAR_029840 + Q5T749:p.Gln14His chr1 149545245 149545248 VAR_029841 + Q5T749:p.Val37Ala chr1 149545473 149545476 VAR_029842 + Q5T749:p.Cys113Arg chr1 149545638 149545641 VAR_029843 + Q5T749:p.Arg168His chr1 149546373 149546376 VAR_029844 + Q5T749:p.Cys413Ser chr1 149546730 149546733 VAR_029845 + Q5T749:p.Pro532Thr chr15 70288239 70288242 VAR_033067 - P14618:p.Gly204Val chr1 152083133 152083136 VAR_011435 - P30613:p.Gly37Glu chr1 152083004 152083007 VAR_011436 - P30613:p.Ser80Pro chr1 152082986 152082989 VAR_011437 - P30613:p.Arg86Pro chr1 152082974 152082977 VAR_011438 - P30613:p.Ile90Asn chr1 152078618 152078620 VAR_011439 - P30613:p.Gly95Arg chr1 152082961 152082962 VAR_011439 - P30613:p.Gly95Arg chr1 152078582 152078585 VAR_004028 - P30613:p.Met107Thr chr1 152078570 152078573 VAR_011440 - P30613:p.Gly111Arg chr1 152078558 152078561 VAR_011441 - P30613:p.Ala115Pro chr1 152078543 152078546 VAR_011442 - P30613:p.Ser120Phe chr1 152078417 152078420 VAR_011443 - P30613:p.Ser130Tyr chr1 152078414 152078417 VAR_004029 - P30613:p.131del chr1 152078405 152078408 VAR_004030 - P30613:p.Val134Asp chr1 152078348 152078351 VAR_011474 - P30613:p.Ile153Thr chr1 152078342 152078345 VAR_004031 - P30613:p.Leu155Pro chr1 152078330 152078333 VAR_011444 - P30613:p.Gly159Val chr1 152078318 152078321 VAR_004033 - P30613:p.Arg163Cys chr1 152078157 152078160 VAR_004032 - P30613:p.Glu172Gln chr1 152078016 152078019 VAR_011475 - P30613:p.Ile219Thr chr1 152078010 152078013 VAR_004034 - P30613:p.Asp221Asp chr1 152078007 152078010 VAR_011445 - P30613:p.Gly222Ala chr1 152077521 152077524 VAR_011447 - P30613:p.Gly263Arg chr1 152077521 152077524 VAR_011448 - P30613:p.Gly263Trp chr1 152077485 152077488 VAR_004035 - P30613:p.Gly275Arg chr1 152077467 152077470 VAR_004036 - P30613:p.Asp281Asn chr1 152077449 152077452 VAR_004037 - P30613:p.Phe287Val chr1 152077446 152077449 VAR_011449 - P30613:p.Val288Leu chr1 152077431 152077434 VAR_011446 - P30613:p.Asp293Asn chr1 152077425 152077428 VAR_011450 - P30613:p.Ala295Val chr1 152077380 152077383 VAR_011451 - P30613:p.Ile310Asn chr1 152077368 152077371 VAR_004038 - P30613:p.Ile314Thr chr1 152077365 152077368 VAR_011452 - P30613:p.Glu315Lys chr1 152077221 152077224 VAR_004039 - P30613:p.Asp331Glu chr1 152077221 152077224 VAR_011453 - P30613:p.Asp331Asn chr1 152077218 152077221 VAR_004040 - P30613:p.Gly332Ser chr1 152077209 152077212 VAR_011476 - P30613:p.Val335Met chr1 152077206 152077209 VAR_004041 - P30613:p.Ala336Ser chr1 152077203 152077206 VAR_004042 - P30613:p.Arg337Pro chr1 152077203 152077206 VAR_004043 - P30613:p.Arg337Gln chr1 152077197 152077200 VAR_004044 - P30613:p.Asp339His chr1 152077191 152077194 VAR_004045 - P30613:p.Gly341Ala chr1 152077191 152077194 VAR_011454 - P30613:p.Gly341Asp chr1 152077188 152077191 VAR_011455 - P30613:p.Ile342Phe chr1 152077170 152077173 VAR_011456 - P30613:p.Lys348Asn chr1 152077170 152077173 VAR_011457 - P30613:p.348del chr1 152077158 152077161 VAR_011477 - P30613:p.Ala352Asp chr1 152077152 152077155 VAR_004046 - P30613:p.354del chr1 152077143 152077146 VAR_004047 - P30613:p.Ile357Thr chr1 152077137 152077140 VAR_004048 - P30613:p.Arg359Cys chr1 152077137 152077140 VAR_004049 - P30613:p.Arg359His chr1 152077131 152077134 VAR_004050 - P30613:p.Asn361Asp chr1 152077122 152077125 VAR_011458 - P30613:p.Gly364Asp chr1 152077110 152077113 VAR_004051 - P30613:p.Val368Phe chr1 152076442 152076445 VAR_011459 - P30613:p.Ser376Ile chr1 152076418 152076421 VAR_004052 - P30613:p.Thr384Met chr1 152076415 152076418 VAR_011478 - P30613:p.Arg385Trp chr1 152076409 152076412 VAR_011460 - P30613:p.Glu387Gly chr1 152076400 152076403 VAR_011461 - P30613:p.Asp390Asn chr1 152076394 152076397 VAR_004053 - P30613:p.Ala392Thr chr1 152076391 152076394 VAR_004054 - P30613:p.Asn393Lys chr1 152076391 152076394 VAR_004055 - P30613:p.Asn393Ser chr1 152076388 152076391 VAR_011462 - P30613:p.Ala394Asp chr1 152076388 152076391 VAR_011463 - P30613:p.Ala394Val chr1 152076367 152076370 VAR_004056 - P30613:p.Cys401Cys chr1 152076346 152076349 VAR_011464 - P30613:p.Thr408Ala chr1 152076346 152076349 VAR_004057 - P30613:p.Thr408Ile chr1 152076307 152076310 VAR_004058 - P30613:p.Gln421Lys chr1 152076198 152076201 VAR_004059 - P30613:p.Arg426Gln chr1 152076198 152076201 VAR_004060 - P30613:p.Arg426Trp chr1 152076195 152076198 VAR_011465 - P30613:p.Glu427Ala chr1 152076195 152076198 VAR_011466 - P30613:p.Glu427Asp chr1 152076183 152076186 VAR_004061 - P30613:p.Ala431Thr chr1 152076102 152076105 VAR_004062 - P30613:p.Gly458Asp chr1 152076099 152076102 VAR_004063 - P30613:p.Ala459Val chr1 152076096 152076099 VAR_004064 - P30613:p.Val460Met chr1 152076072 152076075 VAR_011479 - P30613:p.Ala468Gly chr1 152076072 152076075 VAR_004065 - P30613:p.Ala468Val chr1 152076045 152076048 VAR_011467 - P30613:p.Thr477Ala chr1 152074782 152074785 VAR_011468 - P30613:p.Ser485Phe chr1 152074779 152074782 VAR_004066 - P30613:p.Arg486Trp chr1 152074773 152074776 VAR_011469 - P30613:p.Arg488Gln chr1 152074767 152074770 VAR_004067 - P30613:p.Arg490Trp chr1 152074752 152074755 VAR_011470 - P30613:p.Ala495Thr chr1 152074752 152074755 VAR_004068 - P30613:p.Ala495Val chr1 152074743 152074746 VAR_004069 - P30613:p.Arg498Cys chr1 152074743 152074746 VAR_004070 - P30613:p.Arg498His chr1 152074725 152074728 VAR_011471 - P30613:p.Arg504Leu chr1 152074719 152074722 VAR_018848 - P30613:p.Val506Ile chr1 152074707 152074710 VAR_004071 - P30613:p.Arg510Gln chr1 152074704 152074707 VAR_011472 - P30613:p.Gly511Arg chr1 152074644 152074647 VAR_011473 - P30613:p.Arg531Cys chr1 152074641 152074644 VAR_004072 - P30613:p.Arg532Gln chr1 152074641 152074644 VAR_004073 - P30613:p.Arg532Trp chr1 152073504 152073507 VAR_004074 - P30613:p.Val552Met chr1 152073489 152073492 VAR_011481 - P30613:p.Gly557Ala chr1 152073483 152073486 VAR_004075 - P30613:p.Arg559Gly chr1 152073462 152073465 VAR_004076 - P30613:p.Asn566Lys chr1 152073453 152073456 VAR_011482 - P30613:p.Arg569Gln chr21 44784344 44784347 VAR_017603 - P60331:p.Pro39Leu chr21 44795724 44795727 VAR_017690 - P60368:p.Asn15Asp chr21 44795448 44795451 VAR_017691 - P60368:p.Pro107Thr chr21 44795418 44795421 VAR_017692 - P60368:p.Ala117Pro chr21 44795046 44795049 VAR_017693 - P60368:p.Arg241Gly chr21 44818246 44818249 VAR_017694 + P60372:p.Arg62Cys chr21 44818537 44818540 VAR_017695 + P60372:p.Ile159Val chr21 44836550 44836553 VAR_017699 - P60371:p.Cys81Cys chr21 44856520 44856523 VAR_028234 + P60410:p.His26Arg chr21 44856634 44856637 VAR_036560 + P60410:p.Ser64Asn chr21 44856919 44856922 VAR_036561 + P60410:p.Ser159Phe chr21 44881975 44881978 VAR_017755 + P60014:p.Thr72Pro chr21 30910797 30910800 VAR_036562 + Q3LI63:p.Ser52Leu chr21 31049522 31049525 VAR_036563 - Q3LI58:p.Gly15Ser chr17_random 2519327 2519603 VAR_025353 + Q07627:p.19_110del chr17_random 2525946 2525949 VAR_025349 + Q8IUG1:p.Cys34Ser chr17_random 2525967 2525997 VAR_025350 + Q8IUG1:p.41_50del chr17_random 2526003 2526111 VAR_025351 + Q8IUG1:p.53_88del chr17_random 2526120 2526123 VAR_025352 + Q8IUG1:p.Gly92Arg chr17 36570172 36570352 VAR_032772 - Q9BYR3:p.40_99del chr7 91511695 91511698 VAR_023573 - O00522:p.Phe97Ser chr17 36899285 36899288 VAR_024490 - O76013:p.Ala119Val chr17 36899264 36899267 VAR_024491 - O76013:p.Gln126Arg chr17 36897170 36897173 VAR_020306 - O76013:p.Thr315Met chr12 50971360 50971363 VAR_018113 - Q14533:p.Gly52Arg chr12 50967724 50967727 VAR_018115 - Q14533:p.Arg316Cys chr12 50967193 50967196 VAR_018116 - Q14533:p.Glu402Lys chr12 50967160 50967163 VAR_018117 - Q14533:p.Glu413Lys chr12 51081363 51081366 VAR_032786 - Q9NSB4:p.Glu219Gln chr12 51075211 51075214 VAR_032787 - Q9NSB4:p.Glu452Asp chr12 51075193 51075196 VAR_018118 - Q9NSB4:p.Thr458Met chr12 51047222 51047225 VAR_029657 - P78386:p.Arg78His chr12 50982306 50982309 VAR_018125 + O43790:p.Asn114Asp chr12 50982306 50982309 VAR_023053 + O43790:p.Asn114His chr12 50986287 50986290 VAR_018127 + O43790:p.Glu402Lys chr12 50986287 50986290 VAR_018126 + O43790:p.Glu402Gln chr12 50986320 50986323 VAR_018129 + O43790:p.Glu413Asp chr12 50986320 50986323 VAR_018128 + O43790:p.Glu413Lys chr1 26567651 26567654 VAR_021864 + Q15418:p.Lys335Thr chrX 19987155 19987158 VAR_006188 - P51812:p.Ile38Ser chrX 83208131 83208134 VAR_040637 - Q9UK32:p.Tyr140Cys chrX 83181052 83181055 VAR_040638 - Q9UK32:p.Ser258Thr chrX 83126159 83126162 VAR_030670 - Q9UK32:p.Asp692Asn chr17 55363849 55363852 VAR_040639 + P23443:p.Met225Ile chr17 55366610 55366613 VAR_040640 + P23443:p.Arg272Cys chr17 55366622 55366625 VAR_040641 + P23443:p.Trp276Cys chr17 55366661 55366664 VAR_035628 + P23443:p.Gly289Glu chr17 55373050 55373053 VAR_040642 + P23443:p.Ser398Ala chr9 90685867 90685870 VAR_033838 + P43405:p.Arg45His chr17 78270097 78270100 VAR_034057 + Q9HA64:p.Ala57Val chr1 151958427 151958430 VAR_025531 - Q8N6L1:p.Gly32Val chr3 120672891 120672894 VAR_027041 + Q8NBL1:p.Lys75Arg chr3 120688415 120688418 VAR_027042 + Q8NBL1:p.Pro229Thr chr1 52210881 52210884 VAR_032046 - Q96EK9:p.Asp191Glu chr14 55154448 55154451 VAR_035931 + Q86UP2:p.Pro226Arg chr14 55155663 55155666 VAR_016206 + Q86UP2:p.Val282Met chr14 55214912 55214915 VAR_035932 + Q86UP2:p.Thr1316Pro chr2 216831458 216831461 VAR_014724 + P13010:p.Leu463Phe chr2 143631920 143631923 VAR_022092 + Q16719:p.Lys412Glu chrX 152662111 152662114 VAR_003921 - P32004:p.Trp9Ser chrX 152659530 152659533 VAR_030403 - P32004:p.His30Asn chrX 152658490 152658493 VAR_003922 - P32004:p.Gly121Ser chrX 152657248 152657251 VAR_003923 - P32004:p.Ile179Ser chrX 152657233 152657236 VAR_003924 - P32004:p.Arg184Gln chrX 152657233 152657236 VAR_030404 - P32004:p.Arg184Trp chrX 152657203 152657206 VAR_003925 - P32004:p.Tyr194Cys chrX 152657179 152657182 VAR_030405 - P32004:p.Asp202Tyr chrX 152657155 152657158 VAR_003926 - P32004:p.His210Gln chrX 152657128 152657131 VAR_003927 - P32004:p.Ile219Thr chrX 152656775 152656778 VAR_003928 - P32004:p.Pro240Leu chrX 152656703 152656706 VAR_003929 - P32004:p.Cys264Tyr chrX 152656691 152656694 VAR_030406 - P32004:p.Gly268Asp chrX 152656421 152656424 VAR_003930 - P32004:p.Glu309Lys chrX 152656222 152656225 VAR_030407 - P32004:p.Trp335Cys chrX 152656222 152656225 VAR_003931 - P32004:p.Trp335Arg chrX 152656117 152656120 VAR_003932 - P32004:p.Gly370Arg chrX 152655930 152655933 VAR_003933 - P32004:p.Arg386Cys chrX 152655864 152655867 VAR_030408 - P32004:p.Asn408Ile chrX 152655843 152655846 VAR_027512 - P32004:p.Ala415Pro chrX 152655825 152655828 VAR_030409 - P32004:p.Val421Asp chrX 152655243 152655246 VAR_030410 - P32004:p.Ala426Asp chrX 152655192 152655207 VAR_003934 - P32004:p.439_443del chrX 152655165 152655168 VAR_003935 - P32004:p.Gly452Arg chrX 152654989 152654992 VAR_003936 - P32004:p.Arg473Cys chrX 152654962 152654965 VAR_030411 - P32004:p.Leu482Pro chrX 152654917 152654920 VAR_030412 - P32004:p.Cys497Tyr chrX 152654728 152654731 VAR_030413 - P32004:p.526del chrX 152654680 152654683 VAR_030414 - P32004:p.Ser542Pro chrX 152654333 152654336 VAR_003937 - P32004:p.Asp598Asn chrX 152654144 152654147 VAR_003938 - P32004:p.Arg632Pro chrX 152653829 152653832 VAR_030415 - P32004:p.Lys655Glu chrX 152653772 152653775 VAR_027513 - P32004:p.Ser674Cys chrX 152653721 152653724 VAR_003939 - P32004:p.Ala691Asp chrX 152653721 152653724 VAR_030416 - P32004:p.Ala691Thr chrX 152653700 152653703 VAR_003940 - P32004:p.Gly698Arg chrX 152653164 152653167 VAR_030417 - P32004:p.Arg739Trp chrX 152653158 152653161 VAR_030418 - P32004:p.Met741Thr chrX 152653128 152653131 VAR_030419 - P32004:p.Arg751Pro chrX 152653125 152653128 VAR_014421 - P32004:p.Val752Met chrX 152653077 152653080 VAR_003941 - P32004:p.Val768Phe chrX 152653077 152653080 VAR_030420 - P32004:p.Val768Ile chrX 152653071 152653074 VAR_027514 - P32004:p.Asp770Asn chrX 152653029 152653032 VAR_003942 - P32004:p.Tyr784Cys chrX 152651456 152651459 VAR_003943 - P32004:p.Leu935Pro chrX 152651417 152651456 VAR_003944 - P32004:p.936_948del chrX 152651438 152651441 VAR_003945 - P32004:p.Pro941Leu chrX 152650735 152650738 VAR_003946 - P32004:p.Tyr1070Cys chrX 152649156 152649159 VAR_003947 - P32004:p.Ser1194Leu chrX 152649066 152649069 VAR_003948 - P32004:p.Ser1224Leu chrX 152649021 152649024 VAR_030421 - P32004:p.Gly1239Glu chr17 71079407 71079410 VAR_034058 + Q6P1M3:p.Arg748His chr17 71082289 71082292 VAR_034059 + Q6P1M3:p.Gly1001Ser chr14 49839460 49839463 VAR_025682 - Q9H9P8:p.Gly55Asp chr14 49839454 49839457 VAR_025683 - Q9H9P8:p.Gly57Arg chr14 49839382 49839385 VAR_025684 - Q9H9P8:p.Lys81Glu chr14 49838598 49838601 VAR_025685 - Q9H9P8:p.His98Arg chr14 49838598 49838601 VAR_025686 - Q9H9P8:p.His98Tyr chr14 49830594 49830597 VAR_025687 - Q9H9P8:p.Glu176Asp chr14 49830588 49830591 VAR_025688 - Q9H9P8:p.Tyr178Phe chr14 49805630 49805633 VAR_025689 - Q9H9P8:p.Pro302Leu chr14 49783615 49783618 VAR_025690 - Q9H9P8:p.His434Pro chr15 61220817 61220820 VAR_018299 + P83111:p.Arg469Lys chr5 115366856 115366859 VAR_027059 + Q6Q4G3:p.Val640Phe chr5 115386035 115386038 VAR_027061 + Q6Q4G3:p.Val936Ile chr19 59564455 59564458 VAR_027598 - Q6GTX8:p.Glu63Asp chr12 47249285 47249288 VAR_024526 - P00709:p.Ile46Val chr6 112564074 112564077 VAR_025552 - Q16363:p.Pro1119Arg chr20 60342708 60342711 VAR_030847 - O15230:p.Val889Met chr20 60338245 60338248 VAR_030849 - O15230:p.Lys1367Glu chr20 60335794 60335797 VAR_030851 - O15230:p.Arg1667Trp chr20 60335378 60335381 VAR_030852 - O15230:p.His1717Tyr chr20 60333874 60333877 VAR_030853 - O15230:p.Phe1807Ser chr20 60332574 60332577 VAR_030855 - O15230:p.Ala1908Thr chr20 60331165 60331168 VAR_030856 - O15230:p.His2036Arg chr20 60331114 60331117 VAR_030857 - O15230:p.Arg2053His chr20 60330879 60330882 VAR_030858 - O15230:p.Asp2062Asn chr20 60329090 60329093 VAR_030859 - O15230:p.Arg2226His chr7 107195700 107195703 VAR_014698 - P07942:p.Val670Ala chr7 107193754 107193757 VAR_032774 - P07942:p.Gly860Ser chr3 49143563 49143566 VAR_031968 - P55268:p.Arg246Gln chr3 49143563 49143566 VAR_031969 - P55268:p.Arg246Trp chr3 49143249 49143252 VAR_031970 - P55268:p.Cys321Arg chr3 49137285 49137288 VAR_031971 - P55268:p.Glu987Lys chr3 49135652 49135655 VAR_031972 - P55268:p.Asn1380Lys chr3 49135613 49135616 VAR_031973 - P55268:p.Leu1393Phe chr1 206196207 206196210 VAR_037309 - Q13751:p.Asn181Asp chr1 206194840 206194843 VAR_037310 - Q13751:p.Gly199Ala chr1 206194816 206194819 VAR_037311 - Q13751:p.Lys207Gln chr1 206192421 206192424 VAR_037312 - Q13751:p.Arg292Leu chr1 206189293 206189296 VAR_034060 - Q13751:p.Ser438Thr chr1 206189257 206189260 VAR_035820 - Q13751:p.Arg450Cys chr1 206188622 206188625 VAR_037313 - Q13751:p.Val527Met chr1 206185679 206185682 VAR_004171 - Q13751:p.Pro679Leu chr1 206185646 206185649 VAR_034061 - Q13751:p.Asn690Ser chr1 206184721 206184724 VAR_034062 - Q13751:p.Met852Leu chr1 206180322 206180325 VAR_037314 - Q13751:p.Ala926Asp chr1 206179733 206179736 VAR_034063 - Q13751:p.Arg988Trp chr1 179922978 179922981 VAR_022017 + Q13753:p.Asp247Glu chr1 179933625 179933628 VAR_020304 + Q13753:p.Ser733Thr chrX 119362137 119362140 VAR_011992 - P13473:p.Pro256His chrX 119357596 119357599 VAR_026230 - P13473:p.Trp321Arg chr3 184354834 184354837 VAR_030827 - Q9UQV4:p.Glu32Gly chr3 184336369 184336372 VAR_025343 - Q9UQV4:p.Ile318Val chr12 97430297 97430300 VAR_005635 + P42166:p.Gln599Glu chr12 97444017 97444020 VAR_014786 + P42167:p.Leu427Phe chr5 65357065 65357068 VAR_019346 + Q96RT1:p.Ser274Leu chr5 65385137 65385140 VAR_028304 + Q96RT1:p.Lys746Glu chr5 65386235 65386238 VAR_019347 + Q96RT1:p.Ser1112Leu chr5 65386520 65386523 VAR_019348 + Q96RT1:p.Lys1207Glu chr22 32371110 32371113 VAR_013685 - O95461:p.Arg68Gly chr22 32371110 32371113 VAR_013686 - O95461:p.Arg68Pro chr22 32024971 32024974 VAR_019811 - O95461:p.Glu509Lys chr22 31997677 31997680 VAR_013687 - O95461:p.Arg665His chr4 129400807 129400810 VAR_034813 + Q659C4:p.Pro462Arg chr4 129458246 129458249 VAR_034814 + Q659C4:p.Arg660His chrX 64534261 64534264 VAR_036587 - Q9Y4W2:p.Arg170Cys chr19 8226553 8226556 VAR_034065 + Q9HA82:p.Arg119Gln chr19 8232623 8232626 VAR_019556 + Q9HA82:p.Gly301Ser chr19 8232903 8232906 VAR_019557 + Q9HA82:p.Ala366Thr chr13 20518045 20518048 VAR_040669 - Q9NRM7:p.Gly40Glu chr13 20517892 20517895 VAR_040670 - Q9NRM7:p.Ser91Leu chr13 20460946 20460949 VAR_019789 - Q9NRM7:p.Ala324Val chr13 20455447 20455450 VAR_040671 - Q9NRM7:p.Ile799Val chr13 20447233 20447236 VAR_040672 - Q9NRM7:p.Ala1014Gly chr13 20447200 20447203 VAR_040673 - Q9NRM7:p.Leu1025Pro chr11 110919943 110919946 VAR_029496 + Q6UX15:p.Glu66Lys chr2 170487565 170487568 VAR_034066 + P05455:p.Pro48Ser chr4 5801079 5801082 VAR_017209 - Q86UK5:p.Ile283Arg chr4 5745703 5745706 VAR_035933 - Q86UK5:p.Ala630Ser chr4 5742739 5742742 VAR_017210 - Q86UK5:p.Thr699Ala chr4 5704628 5704631 VAR_017211 - Q86UK5:p.Arg950Trp chr4 5704496 5704499 VAR_035934 - Q86UK5:p.Leu994Val chr20 36408357 36408360 VAR_028243 + P18428:p.Pro9Leu chr20 36416101 36416104 VAR_028244 + P18428:p.Leu125Ile chr20 36416224 36416227 VAR_028245 + P18428:p.Val166Met chr20 36426113 36426116 VAR_028246 + P18428:p.Met242Ile chr20 36426745 36426748 VAR_028247 + P18428:p.Asp283Gly chr20 36426778 36426781 VAR_028248 + P18428:p.His294Arg chr20 36431067 36431070 VAR_028249 + P18428:p.Pro333Leu chr20 36431085 36431088 VAR_028250 + P18428:p.Leu339Phe chr20 36435174 36435177 VAR_028251 + P18428:p.Phe436Leu chr20 36436002 36436005 VAR_028252 + P18428:p.Ala445Thr chr1 221916522 221916525 VAR_017841 - Q14739:p.Pro119Leu chr1 221913877 221913880 VAR_024318 - Q14739:p.Ser154Asn chr1 221907041 221907044 VAR_020209 - Q14739:p.Thr311Ala chr2 74636831 74636834 VAR_037227 - Q6XYB7:p.Ser158Phe chr7 138564242 138564245 VAR_034067 + Q9Y383:p.Asp361Glu chr21 39722238 39722241 VAR_021947 - O95447:p.Gly17Ser chr21 39700049 39700052 VAR_042739 - O95447:p.Gly547Ser chr6 80285258 80285261 VAR_023094 - Q86VQ0:p.Leu24Ser chr6 80285252 80285255 VAR_038989 - Q86VQ0:p.Asp26Ala chr6 80280169 80280172 VAR_038990 - Q86VQ0:p.Arg66Gln chr6 80253895 80253898 VAR_038991 - Q86VQ0:p.Ala546Pro chr6 80253565 80253568 VAR_038992 - Q86VQ0:p.Gly656Asp chr16 66535454 66535457 VAR_004251 - P04180:p.Leu17Leu chr16 66535418 66535421 VAR_039020 - P04180:p.Asn29Ile chr16 66535403 66535406 VAR_004252 - P04180:p.Pro34Leu chr16 66535403 66535406 VAR_039021 - P04180:p.Pro34Gln chr16 66535394 66535397 VAR_039022 - P04180:p.Thr37Met chr16 66534608 66534611 VAR_004253 - P04180:p.Gly54Ser chr16 66534599 66534602 VAR_004254 - P04180:p.Gly57Arg chr16 66534560 66534563 VAR_039023 - P04180:p.Val70Glu chr16 66534485 66534488 VAR_039024 - P04180:p.Gly95Arg chr16 66534346 66534349 VAR_039025 - P04180:p.Ser115Pro chr16 66534340 66534343 VAR_004255 - P04180:p.Ala117Thr chr16 66534322 66534325 VAR_039026 - P04180:p.Arg123Cys chr16 66534156 66534159 VAR_004256 - P04180:p.Thr147Ile chr16 66534120 66534123 VAR_039027 - P04180:p.Arg159Gln chr16 66534120 66534123 VAR_004257 - P04180:p.Arg159Trp chr16 66534105 66534108 VAR_039028 - P04180:p.Arg164Cys chr16 66534105 66534108 VAR_004258 - P04180:p.Arg164His chr16 66534102 66534105 VAR_039029 - P04180:p.Ala165Thr chr16 66534084 66534087 VAR_004259 - P04180:p.Arg171Trp chr16 66533974 66533977 VAR_004260 - P04180:p.Tyr180Asn chr16 66533968 66533971 VAR_004261 - P04180:p.Arg182Cys chr16 66533899 66533902 VAR_039030 - P04180:p.Ser205Asn chr16 66533818 66533821 VAR_017030 - P04180:p.Ser232Thr chr16 66533815 66533818 VAR_004262 - P04180:p.Leu233Pro chr16 66533788 66533791 VAR_039031 - P04180:p.Lys242Asn chr16 66531874 66531877 VAR_004263 - P04180:p.Asn252Lys chr16 66531826 66531829 VAR_039032 - P04180:p.Arg268His chr16 66531802 66531805 VAR_004264 - P04180:p.Met276Lys chr16 66531736 66531739 VAR_039033 - P04180:p.Thr298Ala chr16 66531736 66531739 VAR_039034 - P04180:p.Thr298Ile chr16 66531679 66531682 VAR_004265 - P04180:p.Met317Ile chr16 66531637 66531640 VAR_039035 - P04180:p.Pro331Ser chr16 66531631 66531634 VAR_039036 - P04180:p.Val333Met chr16 66531595 66531598 VAR_004266 - P04180:p.Thr345Met chr16 66531517 66531520 VAR_004267 - P04180:p.Thr371Met chr16 66531442 66531445 VAR_039037 - P04180:p.Leu396Arg chr16 66531412 66531415 VAR_039038 - P04180:p.Phe406Val chr1 32409104 32409107 VAR_013463 + P06239:p.Val28Leu chr1 32411092 32411095 VAR_013464 + P06239:p.Pro232Pro chr1 32414549 32414552 VAR_013465 + P06239:p.Ala353Val chr1 32420218 32420221 VAR_013466 + P06239:p.Pro447Leu chr15 41409778 41409781 VAR_023378 - O60294:p.Val67Leu chr15 41409556 41409559 VAR_022081 - O60294:p.Arg141Ser chr15 41409532 41409535 VAR_023379 - O60294:p.Cys149Tyr chr15 41408425 41408428 VAR_023380 - O60294:p.Thr518Ala chr10 88429172 88429175 VAR_024008 + O75112:p.Val55Ile chr10 88431415 88431418 VAR_024009 + O75112:p.Ser189Leu chr10 88431466 88431469 VAR_024010 + O75112:p.Thr206Ile chr10 88456403 88456406 VAR_024011 + O75112:p.Ile345Met chr10 88468508 88468511 VAR_024012 + O75112:p.Val635Ile chr10 88475911 88475914 VAR_024013 + O75112:p.Asp673Asn chr15 57286470 57286473 VAR_027936 + Q9BYZ2:p.Val14Met chr15 57286518 57286521 VAR_027937 + Q9BYZ2:p.Pro30Leu chr15 57287406 57287409 VAR_027938 + Q9BYZ2:p.Ile326Thr chr11 18381887 18381890 VAR_004180 + P00338:p.Lys222Glu chr11 18385347 18385350 VAR_004181 + P00338:p.Arg315Cys chr12 21698851 21698854 VAR_004173 - P07195:p.Lys7Glu chr12 21698767 21698770 VAR_004174 - P07195:p.Ala35Glu chr12 21691139 21691142 VAR_011634 - P07195:p.Gly69Glu chr12 21688235 21688238 VAR_011635 - P07195:p.Arg107Trp chr12 21688169 21688172 VAR_004175 - P07195:p.Ser129Arg chr12 21686234 21686237 VAR_004176 - P07195:p.Phe171Val chr12 21686231 21686234 VAR_004177 - P07195:p.Arg172His chr12 21686231 21686234 VAR_011636 - P07195:p.Arg172Pro chr12 21686222 21686225 VAR_004178 - P07195:p.Met175Leu chr12 21682597 21682600 VAR_011637 - P07195:p.223del chr12 21679781 21679784 VAR_004179 - P07195:p.Asp322Val chr12 21679772 21679775 VAR_011638 - P07195:p.Trp325Arg chr11 18429103 18429106 VAR_034068 + P07864:p.Glu285Gln chr16 73705563 73705566 VAR_029561 - Q86WU2:p.Arg233Lys chr19 11061227 11061230 VAR_011862 + P01130:p.Gly2Arg chr19 11071909 11071912 VAR_005304 + P01130:p.Cys27Trp chr19 11071966 11071969 VAR_013949 + P01130:p.Cys46Ser chr19 11071969 11071975 VAR_005305 + P01130:p.47_48del chr19 11071978 11071981 VAR_007979 + P01130:p.Ala50Ser chr19 11071984 11071987 VAR_005306 + P01130:p.Cys52Tyr chr19 11071996 11071999 VAR_007980 + P01130:p.Ser56Pro chr19 11074380 11074383 VAR_005307 + P01130:p.Arg78Cys chr19 11074407 11074410 VAR_005308 + P01130:p.Trp87Gly chr19 11074413 11074416 VAR_005309 + P01130:p.Cys89Tyr chr19 11074416 11074419 VAR_005310 + P01130:p.Asp90Gly chr19 11074416 11074419 VAR_005311 + P01130:p.Asp90Asn chr19 11074416 11074419 VAR_005312 + P01130:p.Asp90Tyr chr19 11074422 11074425 VAR_005313 + P01130:p.Gln92Glu chr19 11074431 11074434 VAR_005314 + P01130:p.Cys95Gly chr19 11074449 11074452 VAR_005315 + P01130:p.Glu101Lys chr19 11076906 11076909 VAR_005316 + P01130:p.Cys109Arg chr19 11076927 11076930 VAR_005317 + P01130:p.Cys116Arg chr19 11076999 11077002 VAR_005318 + P01130:p.Glu140Lys chr19 11077044 11077047 VAR_005319 + P01130:p.Cys155Gly chr19 11077059 11077062 VAR_005320 + P01130:p.Cys160Tyr chr19 11077083 11077086 VAR_005321 + P01130:p.Asp168His chr19 11077083 11077086 VAR_005322 + P01130:p.Asp168Asn chr19 11077083 11077086 VAR_005323 + P01130:p.Asp168Tyr chr19 11077095 11077098 VAR_013950 + P01130:p.Asp172His chr19 11077098 11077101 VAR_005324 + P01130:p.Cys173Arg chr19 11077098 11077101 VAR_005325 + P01130:p.Cys173Trp chr19 11077104 11077107 VAR_005326 + P01130:p.Asp175Asn chr19 11077104 11077107 VAR_007981 + P01130:p.Asp175Tyr chr19 11077110 11077113 VAR_005327 + P01130:p.Ser177Leu chr19 11077131 11077134 VAR_013951 + P01130:p.Cys184Tyr chr19 11077170 11077173 VAR_005328 + P01130:p.Cys197Phe chr19 11077170 11077173 VAR_005330 + P01130:p.Cys197Arg chr19 11077170 11077173 VAR_005329 + P01130:p.Cys197Tyr chr19 11077233 11077236 VAR_005331 + P01130:p.218del chr19 11077242 11077245 VAR_005332 + P01130:p.Asp221Gly chr19 11077242 11077245 VAR_007982 + P01130:p.Asp221Asn chr19 11077242 11077245 VAR_005333 + P01130:p.Asp221Tyr chr19 11077251 11077254 VAR_005335 + P01130:p.Asp224Gly chr19 11077251 11077254 VAR_005334 + P01130:p.Asp224Asn chr19 11077251 11077254 VAR_005336 + P01130:p.Asp224Val chr19 11077257 11077260 VAR_005337 + P01130:p.Ser226Pro chr19 11077260 11077263 VAR_005338 + P01130:p.Asp227Glu chr19 11077263 11077266 VAR_005339 + P01130:p.Glu228Cys chr19 11077263 11077266 VAR_005341 + P01130:p.Glu228Lys chr19 11077263 11077266 VAR_005340 + P01130:p.Glu228Gln chr19 11077272 11077275 VAR_005342 + P01130:p.Cys231Gly chr19 11078263 11078266 VAR_005343 + P01130:p.Glu240Lys chr19 11078287 11078290 VAR_005344 + P01130:p.Cys248Phe chr19 11078287 11078290 VAR_005345 + P01130:p.Cys248Tyr chr19 11078302 11078305 VAR_013952 + P01130:p.Arg253Trp chr19 11078311 11078314 VAR_005346 + P01130:p.Asp256Gly chr19 11078326 11078329 VAR_013953 + P01130:p.Cys261Phe chr19 11078341 11078344 VAR_005347 + P01130:p.Asp266Glu chr19 11078353 11078356 VAR_005348 + P01130:p.Cys270Tyr chr19 11079075 11079078 VAR_005349 + P01130:p.Cys276Tyr chr19 11079078 11079081 VAR_005350 + P01130:p.Glu277Lys chr19 11079105 11079108 VAR_005351 + P01130:p.Ser286Arg chr19 11079111 11079114 VAR_007983 + P01130:p.Glu288Lys chr19 11079150 11079153 VAR_005352 + P01130:p.Asp301Ala chr19 11079153 11079156 VAR_005354 + P01130:p.Cys302Trp chr19 11079153 11079156 VAR_005353 + P01130:p.Cys302Tyr chr19 11079159 11079162 VAR_005356 + P01130:p.Asp304Glu chr19 11079159 11079162 VAR_005355 + P01130:p.Asp304Asn chr19 11079165 11079168 VAR_005357 + P01130:p.Ser306Leu chr19 11079186 11079189 VAR_005358 + P01130:p.Cys313Tyr chr19 11082338 11082341 VAR_005360 + P01130:p.Cys318Phe chr19 11082338 11082341 VAR_005359 + P01130:p.Cys318Tyr chr19 11082365 11082368 VAR_005361 + P01130:p.His327Tyr chr19 11082371 11082374 VAR_005362 + P01130:p.Cys329Tyr chr19 11082389 11082392 VAR_005363 + P01130:p.Gly335Ser chr19 11082398 11082401 VAR_005364 + P01130:p.Cys338Ser chr19 11082410 11082413 VAR_005365 + P01130:p.Asp342Glu chr19 11082410 11082413 VAR_005366 + P01130:p.Asp342Asn chr19 11082413 11082416 VAR_005367 + P01130:p.Gly343Ser chr19 11082434 11082437 VAR_005368 + P01130:p.Arg350Pro chr19 11082440 11082443 VAR_005369 + P01130:p.Cys352Tyr chr19 11082446 11082447 VAR_005370 + P01130:p.Asp354Gly chr19 11083189 11083191 VAR_005370 + P01130:p.Asp354Gly chr19 11082446 11082447 VAR_005371 + P01130:p.Asp354Val chr19 11083189 11083191 VAR_005371 + P01130:p.Asp354Val chr19 11083194 11083197 VAR_007984 + P01130:p.Asp356Tyr chr19 11083197 11083200 VAR_005372 + P01130:p.Glu357Lys chr19 11083218 11083221 VAR_005373 + P01130:p.Cys364Arg chr19 11083224 11083227 VAR_007985 + P01130:p.Gln366Arg chr19 11083230 11083233 VAR_005374 + P01130:p.Cys368Arg chr19 11083263 11083266 VAR_005375 + P01130:p.Cys379Arg chr19 11083263 11083266 VAR_007986 + P01130:p.Cys379Tyr chr19 11083299 11083302 VAR_024519 + P01130:p.Ala391Thr chr19 11084961 11084964 VAR_005376 + P01130:p.Ala399Asp chr19 11084967 11084970 VAR_005377 + P01130:p.Leu401His chr19 11084967 11084970 VAR_007987 + P01130:p.Leu401Val chr19 11084973 11084976 VAR_008995 + P01130:p.Phe403Leu chr19 11084982 11084985 VAR_013954 + P01130:p.Arg406Gln chr19 11084988 11084991 VAR_005378 + P01130:p.Glu408Lys chr19 11085006 11085009 VAR_005379 + P01130:p.Leu414Arg chr19 11085012 11085015 VAR_005380 + P01130:p.Arg416Gln chr19 11085012 11085015 VAR_005381 + P01130:p.Arg416Trp chr19 11085033 11085036 VAR_005382 + P01130:p.Ile423Thr chr19 11085051 11085054 VAR_005383 + P01130:p.Val429Met chr19 11085057 11085060 VAR_005384 + P01130:p.Ala431Thr chr19 11085060 11085063 VAR_007988 + P01130:p.Leu432Val chr19 11085063 11085066 VAR_005385 + P01130:p.Asp433His chr19 11085066 11085069 VAR_005386 + P01130:p.Thr434Lys chr19 11085087 11085090 VAR_005388 + P01130:p.Ile441Met chr19 11085087 11085090 VAR_005387 + P01130:p.Ile441Asn chr19 11085093 11085096 VAR_005389 + P01130:p.Trp443Cys chr19 11085253 11085256 VAR_011863 + P01130:p.Val468Ile chr19 11085283 11085286 VAR_005390 + P01130:p.Gly478Arg chr19 11085295 11085298 VAR_005391 + P01130:p.Asp482His chr19 11085298 11085301 VAR_005392 + P01130:p.Trp483Arg chr19 11085304 11085307 VAR_005394 + P01130:p.His485Arg chr19 11085310 11085313 VAR_005393 + P01130:p.487del chr19 11085418 11085421 VAR_005395 + P01130:p.Val523Met chr19 11085427 11085430 VAR_005396 + P01130:p.Pro526Ser chr19 11087818 11087821 VAR_005397 + P01130:p.Gly546Asp chr19 11087827 11087830 VAR_005398 + P01130:p.Gly549Asp chr19 11087872 11087875 VAR_005399 + P01130:p.Asn564His chr19 11087872 11087875 VAR_005400 + P01130:p.Asn564Ser chr19 11087875 11087878 VAR_005401 + P01130:p.Gly565Val chr19 11087884 11087887 VAR_008996 + P01130:p.Leu568Val chr19 11088563 11088566 VAR_005402 + P01130:p.Asp579Asn chr19 11088602 11088605 VAR_005403 + P01130:p.Gly592Glu chr19 11088623 11088626 VAR_005404 + P01130:p.Leu599Ser chr19 11088650 11088653 VAR_007989 + P01130:p.Pro608Ser chr19 11091818 11091821 VAR_005405 + P01130:p.Arg633Cys chr19 11091866 11091869 VAR_005406 + P01130:p.Pro649Leu chr19 11092056 11092059 VAR_005407 + P01130:p.Cys667Tyr chr19 11092086 11092089 VAR_005408 + P01130:p.Cys677Arg chr19 11092101 11092104 VAR_005409 + P01130:p.Leu682Pro chr19 11092110 11092113 VAR_005410 + P01130:p.Pro685Leu chr19 11092152 11092155 VAR_013955 + P01130:p.Pro699Leu chr19 11092155 11092158 VAR_005412 + P01130:p.Asp700Glu chr19 11092197 11092198 VAR_008997 + P01130:p.Glu714Lys chr19 11094849 11094851 VAR_008997 + P01130:p.Glu714Lys chr19 11094884 11094887 VAR_005413 + P01130:p.Thr726Ile chr19 11099745 11099748 VAR_005414 + P01130:p.Ile792Phe chr19 11099760 11099761 VAR_005415 + P01130:p.Val797Met chr19 11101188 11101190 VAR_005415 + P01130:p.Val797Met chr19 11101193 11101202 VAR_005416 + P01130:p.799_801del chr19 11101238 11101241 VAR_011864 + P01130:p.Arg814Gln chr19 11101256 11101265 VAR_005417 + P01130:p.820_822del chr19 11101277 11101280 VAR_005418 + P01130:p.Val827Ile chr19 11101280 11101283 VAR_005419 + P01130:p.Tyr828Cys chr19 11101328 11101331 VAR_005420 + P01130:p.Gly844Asp chr13 52184948 52184951 VAR_024413 - O75829:p.Val175Ile chr4 109442402 109442405 VAR_035935 - Q9UJU2:p.Gly113Arg chr22 36290772 36290775 VAR_036570 - P05162:p.Glu132Gln chr17 22982430 22982433 VAR_020453 + O00182:p.Gly5Ser chr19 59666128 59666131 VAR_029602 - Q96B70:p.His131Arg chr19 59665090 59665093 VAR_029603 - Q96B70:p.Arg477Pro chr1 65748460 65748463 VAR_002703 + P48357:p.Lys109Arg chr1 65770475 65770478 VAR_002704 + P48357:p.Lys204Arg chr1 65770532 65770535 VAR_002705 + P48357:p.Gln223Arg chr1 65782844 65782847 VAR_028201 + P48357:p.Ile503Val chr1 65787970 65787973 VAR_002706 + P48357:p.Lys656Asn chr1 65793738 65793741 VAR_002707 + P48357:p.Ser675Thr chr7 127488407 127488410 VAR_004196 + P41159:p.49del chr7 127488542 127488545 VAR_004197 + P41159:p.Val94Met chr7 127488575 127488578 VAR_008094 + P41159:p.Arg105Trp chr7 127488590 127488593 VAR_011955 + P41159:p.Val110Met chr13 50315534 50315537 VAR_031280 - Q6UYE1:p.Ala83Val chr7 2338173 2338176 VAR_025850 + Q8NES3:p.Phe188Leu chr1 222381296 222381299 VAR_024231 - O75610:p.Asp322Ala chr1 222434411 222434414 VAR_021980 - O00292:p.Ser92Leu chr1 222432118 222432121 VAR_021981 - O00292:p.Pro286Leu chr1 222431950 222431953 VAR_010385 - O00292:p.Ser342Asn chr10 95507966 95507969 VAR_015771 + O95970:p.Leu26Arg chr10 95508014 95508017 VAR_023008 + O95970:p.Cys42Gly chr10 95508026 95508029 VAR_015772 + O95970:p.Cys46Arg chr10 95546827 95546830 VAR_015774 + O95970:p.Phe318Cys chr10 95547022 95547025 VAR_015773 + O95970:p.Glu383Ala chr10 95547292 95547295 VAR_023009 + O95970:p.Ser473Leu chr4 24681647 24681650 VAR_030536 - Q8N0V4:p.Arg444Gln chr4 24681623 24681626 VAR_030537 - Q8N0V4:p.Gln452Arg chr14 92268830 92268833 VAR_024588 - Q99538:p.Val18Ile chr1 199019050 199019053 VAR_033479 + Q9HBX8:p.Ala516Ser chr5 77841486 77841489 VAR_026913 - Q6ZUX7:p.Ile102Val chr11 123512180 123512183 VAR_014193 + O00534:p.Ser499Ile chr11 123512201 123512204 VAR_014194 + O00534:p.Arg506Lys chr11 123521267 123521270 VAR_014195 + O00534:p.Arg757Cys chr11 123521273 123521276 VAR_014196 + O00534:p.His759Arg chr9 136317589 136317592 VAR_010713 - Q9UBR4:p.Tyr111Cys chr10 90997337 90997340 VAR_004247 - P38571:p.Thr16Pro chr10 90997316 90997319 VAR_026523 - P38571:p.Gly23Arg chr10 90997298 90997301 VAR_026524 - P38571:p.Val29Leu chr10 90977977 90977980 VAR_004248 - P38571:p.His129Pro chr10 90977977 90977980 VAR_004249 - P38571:p.His129Arg chr10 90974903 90974906 VAR_004250 - P38571:p.Leu200Pro chr5 38563062 38563065 VAR_029109 - P42702:p.His116Tyr chr5 38546476 38546479 VAR_025666 - P42702:p.Ser279Pro chr5 38532391 38532394 VAR_029110 - P42702:p.Asp578Asn chr5 38529630 38529633 VAR_021996 - P42702:p.Ile633Met chr5 38529537 38529540 VAR_038626 - P42702:p.Ser664Leu chr5 38521819 38521822 VAR_029111 - P42702:p.Val785Ile chr5 38517543 38517546 VAR_036166 - P42702:p.Phe1068Leu chr3 45612617 45612620 VAR_021993 + Q9UGP4:p.Gly415Arg chr22 29946345 29946348 VAR_034069 + P53671:p.Gly35Ser chr22 29978846 29978849 VAR_042249 + P53671:p.Asp45Asn chr22 29982758 29982761 VAR_042250 + P53671:p.Arg213Cys chr22 29986516 29986519 VAR_042251 + P53671:p.Pro296Arg chr22 29988438 29988441 VAR_042252 + P53671:p.Arg418Cys chr15 98938483 98938486 VAR_038668 - Q8NG48:p.Ile29Val chr15 98931607 98931610 VAR_038669 - Q8NG48:p.Ala331Val chr15 98927823 98927826 VAR_038671 - Q8NG48:p.Ser472Thr chr15 98927616 98927619 VAR_038672 - Q8NG48:p.Ile541Val chr15 98927316 98927319 VAR_038673 - Q8NG48:p.Glu641Asp chr15 98927199 98927202 VAR_038674 - Q8NG48:p.Arg680Ser chr11 69796136 69796139 VAR_017756 + Q13136:p.Val71Ile chr19 54331813 54331816 VAR_017757 + O75145:p.Ala563Ser chr12 27692012 27692015 VAR_017758 + Q86W92:p.Val148Leu chr15 56621284 56621287 VAR_004206 + P11150:p.Val95Met chr15 56621401 56621404 VAR_004207 + P11150:p.Val134Val chr15 56625300 56625303 VAR_004208 + P11150:p.Asn215Ser chr15 56627876 56627879 VAR_004209 + P11150:p.Ser289Phe chr15 56628035 56628038 VAR_017024 + P11150:p.Val342Ile chr15 56643038 56643041 VAR_004210 + P11150:p.Thr405Met chr15 56643050 56643053 VAR_017026 + P11150:p.Asp409Ala chr15 56643143 56643146 VAR_014179 + P11150:p.Ser440Asn chr18 45342751 45342754 VAR_034082 + Q9Y5X9:p.Gly26Ser chr18 45347815 45347818 VAR_017027 + Q9Y5X9:p.Gly96Ser chr18 45347860 45347863 VAR_017028 + Q9Y5X9:p.Thr111Ile chr18 45361922 45361925 VAR_017029 + Q9Y5X9:p.Arg312His chr10 90419631 90419634 VAR_011947 + P07098:p.Thr161Ala chr10 90423324 90423327 VAR_020565 + P07098:p.Phe224Ile chr10 90428262 90428265 VAR_020566 + P07098:p.Pro348Thr chr3 186727986 186734073 VAR_030125 - Q8WWY8:p.172_205del chr10 90502283 90502286 VAR_032160 + Q5VXJ0:p.Met331Ile chr10 90502463 90502466 VAR_032161 + Q5VXJ0:p.Ile391Thr chr8 19849987 19849990 VAR_011948 + P06858:p.Asp36Asn chr8 19853613 19853616 VAR_004211 + P06858:p.Arg102Ser chr8 19853646 19853649 VAR_004212 + P06858:p.Trp113Gly chr8 19853646 19853649 VAR_004213 + P06858:p.Trp113Arg chr8 19855157 19855160 VAR_004214 + P06858:p.His163Arg chr8 19855175 19855178 VAR_004215 + P06858:p.Gly169Glu chr8 19855211 19855212 VAR_004216 + P06858:p.Gly181Ser chr8 19855910 19855912 VAR_004216 + P06858:p.Gly181Ser chr8 19855915 19855918 VAR_004217 + P06858:p.Asp183Gly chr8 19855915 19855918 VAR_004218 + P06858:p.Asp183Asn chr8 19855918 19855921 VAR_004219 + P06858:p.Pro184Arg chr8 19855921 19855924 VAR_004220 + P06858:p.Ala185Thr chr8 19855963 19855966 VAR_004221 + P06858:p.Ser199Cys chr8 19855975 19855978 VAR_004222 + P06858:p.Ala203Thr chr8 19855987 19855990 VAR_004223 + P06858:p.Asp207Glu chr8 19855996 19855999 VAR_004224 + P06858:p.His210Gln chr8 19856011 19856014 VAR_004225 + P06858:p.Gly215Glu chr8 19856026 19856029 VAR_004226 + P06858:p.Ser220Arg chr8 19856029 19856032 VAR_004227 + P06858:p.Ile221Thr chr8 19856032 19856035 VAR_004228 + P06858:p.Gly222Glu chr8 19856059 19856062 VAR_004229 + P06858:p.Asp231Glu chr8 19856062 19856065 VAR_004230 + P06858:p.Ile232Ser chr8 19856068 19856071 VAR_004231 + P06858:p.Pro234Leu chr8 19856095 19856098 VAR_004232 + P06858:p.Cys243Ser chr8 19857663 19857666 VAR_004233 + P06858:p.Arg270His chr8 19857666 19857669 VAR_004234 + P06858:p.Ser271Thr chr8 19857684 19857687 VAR_004235 + P06858:p.Asp277Asn chr8 19857687 19857690 VAR_004236 + P06858:p.Ser278Cys chr8 19857711 19857714 VAR_004237 + P06858:p.Ser286Gly chr8 19857711 19857714 VAR_004238 + P06858:p.Ser286Arg chr8 19857717 19857720 VAR_011949 + P06858:p.Ala288Thr chr8 19857807 19857810 VAR_004239 + P06858:p.Asn318Ser chr8 19857837 19857840 VAR_004240 + P06858:p.Met328Thr chr8 19857843 19857846 VAR_004241 + P06858:p.Leu330Pro chr8 19861112 19861115 VAR_004242 + P06858:p.Ala361Thr chr8 19861139 19861142 VAR_011950 + P06858:p.Val370Met chr8 19861166 19861169 VAR_011951 + P06858:p.Thr379Ala chr8 19862725 19862728 VAR_004243 + P06858:p.Leu392Val chr8 19862818 19862824 VAR_004244 + P06858:p.423_424del chr8 19862830 19862833 VAR_011952 + P06858:p.Ala427Thr chr8 19862860 19862863 VAR_004245 + P06858:p.Glu437Lys chr8 19862860 19862863 VAR_004246 + P06858:p.Glu437Val chr10 118344285 118344288 VAR_036379 + P54315:p.Ser129Cys chr10 118347664 118347667 VAR_022082 + P54315:p.Ala271Val chr10 118354954 118354957 VAR_022659 + P54315:p.Glu414Asp chr10 118358594 118358597 VAR_014915 + P54315:p.Leu461Pro chr10 118177517 118177520 VAR_032141 + Q17RR3:p.Leu2Phe chr10 118218752 118218755 VAR_032142 + Q17RR3:p.Phe332Leu chr10 118226598 118226601 VAR_032143 + Q17RR3:p.Phe450Tyr chr19 47622841 47622844 VAR_025108 - Q05469:p.Tyr100His chr19 47622760 47622763 VAR_025109 - Q05469:p.Gln127His chr19 47622703 47622706 VAR_036539 - Q05469:p.Pro146Gln chr19 47622703 47622706 VAR_025110 - Q05469:p.Pro146Ser chr19 47622610 47622613 VAR_025111 - Q05469:p.Ser177Thr chr19 47622559 47622562 VAR_025112 - Q05469:p.Ala194Val chr19 47622490 47622493 VAR_025113 - Q05469:p.Arg217Gln chr19 47604242 47604245 VAR_025114 - Q05469:p.Lys497Asn chr19 47604236 47604239 VAR_025115 - Q05469:p.Asn499His chr19 47598751 47598754 VAR_025116 - Q05469:p.Arg938Ser chr19 59777581 59777584 VAR_016988 + Q8N149:p.His25Leu chr19 59777581 59777584 VAR_016989 + Q8N149:p.His25Asn chr19 59495976 59495979 VAR_016990 - Q8N6C8:p.Pro3Ser chr19 59495314 59495317 VAR_016991 - Q8N6C8:p.Leu107Arg chr19 59494349 59494352 VAR_016992 - Q8N6C8:p.Tyr301His chr19 59834893 59834896 VAR_016993 + Q8NHL6:p.Leu68Pro chr19 59835262 59835265 VAR_016994 + Q8NHL6:p.Ile142Thr chr19 59835301 59835304 VAR_016995 + Q8NHL6:p.Ser155Ile chr19 59840045 59840048 VAR_016996 + Q8NHL6:p.Leu620Phe chr19 59475940 59475943 VAR_016997 - Q8N423:p.His20Arg chr19 59418437 59418440 VAR_017001 - O75022:p.Val21Met chr19 59418109 59418112 VAR_017003 - O75022:p.Leu69Trp chr19 59417803 59417806 VAR_017005 - O75022:p.Ser122Asn chr19 59416267 59416270 VAR_017009 - O75022:p.Tyr400Phe chr19 59416267 59416270 VAR_017008 - O75022:p.Tyr400His chr19 59416267 59416270 VAR_017007 - O75022:p.Tyr400Arg chr19 59866309 59866312 VAR_025501 + Q8NHJ6:p.Phe5Leu chr19 59866818 59866821 VAR_025502 + Q8NHJ6:p.Arg18Ser chr19 59869698 59869699 VAR_025503 + Q8NHJ6:p.Cys330Tyr chr19 59869959 59869961 VAR_025503 + Q8NHJ6:p.Cys330Tyr chr19 59869973 59869976 VAR_025504 + Q8NHJ6:p.Asn335Asp chr19 59870939 59870942 VAR_017015 + Q8NHJ6:p.Lys362Glu chr19 59870939 59870942 VAR_030939 + Q8NHJ6:p.Lys362Thr chr19 59871174 59871177 VAR_025505 + Q8NHJ6:p.Gln414Arg chr17 2515473 2515476 VAR_015398 + P43034:p.Phe31Ser chr17 2520251 2520254 VAR_007724 + P43034:p.His149Arg chr17 2520290 2520293 VAR_015399 + P43034:p.Gly162Ser chr17 2520311 2520314 VAR_010203 + P43034:p.Ser169Pro chr17 2524152 2524155 VAR_037300 + P43034:p.Arg241Pro chr17 2524260 2524263 VAR_037301 + P43034:p.His277Pro chr17 2526596 2526599 VAR_015400 + P43034:p.Asp317His chr16 11558018 11558021 VAR_024014 - Q99732:p.Tyr23His chr16 11557940 11557943 VAR_024015 - Q99732:p.Thr49Met chr16 11554990 11554993 VAR_024016 - Q99732:p.Ile92Val chr16 11554930 11554933 VAR_024017 - Q99732:p.Gly112Ser chr16 11554921 11554924 VAR_024018 - Q99732:p.Thr115Asn chr16 11554918 11554921 VAR_024019 - Q99732:p.Trp116Gly chr16 11554900 11554903 VAR_024020 - Q99732:p.Leu122Val chr1 62384399 62384402 VAR_035377 + Q5T7N2:p.Arg27Ser chr1 62385056 62385059 VAR_035378 + Q5T7N2:p.Val246Ala chr1 62385245 62385248 VAR_035379 + Q5T7N2:p.Val309Met chr1 62385305 62385308 VAR_035380 + Q5T7N2:p.Lys329Asn chr1 62388111 62388114 VAR_035381 + Q5T7N2:p.Pro549Thr chr1 62388303 62388306 VAR_035382 + Q5T7N2:p.Thr613Ile chr5 96504027 96504030 VAR_026039 - Q8N485:p.Arg3Ile chr18 55177414 55177417 VAR_013703 - P49257:p.Arg14Gln chr18 55177339 55177342 VAR_013704 - P49257:p.Val39Ala chr18 55151446 55151449 VAR_013705 - P49257:p.Met410Leu chr6 70515994 70515997 VAR_029047 - Q9NUN5:p.Thr144Ala chr6 70467380 70467383 VAR_029048 - Q9NUN5:p.Ile395Val chr6 70464185 70464188 VAR_029049 - Q9NUN5:p.Asp469Glu chr22 39925884 39925887 VAR_033998 + Q969R5:p.Ile7Val chr22 39941746 39941749 VAR_015093 + Q969R5:p.Arg300Trp chr6 130415793 130415796 VAR_022368 + Q96JM7:p.Thr183Asn chr7 156054303 156054306 VAR_031900 - Q8WVP7:p.Thr228Ala chr1 152897809 152897812 VAR_039745 + P02545:p.Thr10Ile chr1 152897854 152897857 VAR_039746 + P02545:p.Arg25Gly chr1 152897854 152897857 VAR_039747 + P02545:p.Arg25Pro chr1 152897863 152897866 VAR_039748 + P02545:p.Arg28Trp chr1 152897875 152897878 VAR_039749 + P02545:p.32del chr1 152897878 152897881 VAR_039750 + P02545:p.Glu33Asp chr1 152897878 152897881 VAR_039751 + P02545:p.Glu33Gly chr1 152897884 152897887 VAR_039752 + P02545:p.Leu35Val chr1 152897908 152897911 VAR_039753 + P02545:p.Ala43Thr chr1 152897914 152897917 VAR_009971 + P02545:p.Tyr45Cys chr1 152897929 152897932 VAR_009972 + P02545:p.Arg50Pro chr1 152897929 152897932 VAR_039754 + P02545:p.Arg50Ser chr1 152897950 152897953 VAR_017656 + P02545:p.Ala57Pro chr1 152897959 152897962 VAR_034706 + P02545:p.Arg60Gly chr1 152897965 152897968 VAR_039755 + P02545:p.Arg62Gly chr1 152897968 152897971 VAR_039756 + P02545:p.Ile63Asn chr1 152897968 152897971 VAR_009974 + P02545:p.Ile63Ser chr1 152897974 152897977 VAR_039757 + P02545:p.Glu65Gly chr1 152898034 152898037 VAR_009975 + P02545:p.Leu85Arg chr1 152898046 152898049 VAR_039758 + P02545:p.Arg89Leu chr1 152898070 152898073 VAR_039759 + P02545:p.Lys97Glu chr1 152898115 152898118 VAR_009976 + P02545:p.112del chr1 152913520 152913523 VAR_016913 + P02545:p.Arg133Leu chr1 152913520 152913523 VAR_017657 + P02545:p.Arg133Pro chr1 152913541 152913544 VAR_039760 + P02545:p.Leu140Pro chr1 152913541 152913544 VAR_017658 + P02545:p.Leu140Arg chr1 152913550 152913553 VAR_034707 + P02545:p.Ser143Phe chr1 152913550 152913553 VAR_039761 + P02545:p.Ser143Pro chr1 152913556 152913559 VAR_017659 + P02545:p.Glu145Lys chr1 152913571 152913574 VAR_039762 + P02545:p.Thr150Pro chr1 152913604 152913607 VAR_017660 + P02545:p.Glu161Lys chr1 152917320 152917323 VAR_039763 + P02545:p.Arg190Gln chr1 152917320 152917323 VAR_039764 + P02545:p.Arg190Trp chr1 152917326 152917329 VAR_039765 + P02545:p.Asp192Gly chr1 152917335 152917338 VAR_009977 + P02545:p.Asn195Lys chr1 152917338 152917350 VAR_039766 + P02545:p.Arg196_Thr199delinsSer chr1 152917359 152917362 VAR_009978 + P02545:p.Glu203Gly chr1 152917359 152917362 VAR_039767 + P02545:p.Glu203Lys chr1 152917374 152917377 VAR_034708 + P02545:p.208del chr1 152917671 152917674 VAR_039768 + P02545:p.Leu215Pro chr1 152917692 152917695 VAR_039769 + P02545:p.His222Pro chr1 152917692 152917695 VAR_009979 + P02545:p.His222Tyr chr1 152917716 152917719 VAR_039770 + P02545:p.Asp230Asn chr1 152917722 152917725 VAR_039771 + P02545:p.Gly232Glu chr1 152917770 152917773 VAR_039772 + P02545:p.Leu248Pro chr1 152917773 152917776 VAR_009980 + P02545:p.Arg249Gln chr1 152917806 152917809 VAR_039773 + P02545:p.Lys260Asn chr1 152917809 152917812 VAR_009981 + P02545:p.261del chr1 152917827 152917830 VAR_039774 + P02545:p.Tyr267Cys chr1 152918119 152918122 VAR_009982 + P02545:p.Gln294Pro chr1 152918131 152918134 VAR_017661 + P02545:p.Arg298Cys chr1 152918776 152918779 VAR_039775 + P02545:p.Glu317Lys chr1 152918833 152918836 VAR_009983 + P02545:p.Arg336Gln chr1 152918854 152918857 VAR_009984 + P02545:p.Arg343Gln chr1 152918872 152918875 VAR_039776 + P02545:p.Arg349Leu chr1 152918899 152918902 VAR_009985 + P02545:p.Glu358Lys chr1 152918938 152918941 VAR_009986 + P02545:p.Met371Lys chr1 152918956 152918959 VAR_016205 + P02545:p.Arg377His chr1 152918956 152918959 VAR_039777 + P02545:p.Arg377Leu chr1 152918983 152918985 VAR_009987 + P02545:p.Arg386Lys chr1 152919077 152919078 VAR_009987 + P02545:p.Arg386Lys chr1 152919114 152919117 VAR_039778 + P02545:p.Arg399Cys chr1 152919222 152919225 VAR_039779 + P02545:p.Arg435Cys chr1 152919255 152919258 VAR_039780 + P02545:p.Asp446Val chr1 152919276 152919279 VAR_009988 + P02545:p.Arg453Trp chr1 152919285 152919288 VAR_039781 + P02545:p.Asn456Ile chr1 152919285 152919288 VAR_039782 + P02545:p.Asn456Lys chr1 152919796 152919799 VAR_009989 + P02545:p.Gly465Asp chr1 152919808 152919811 VAR_009990 + P02545:p.Ile469Thr chr1 152919814 152919817 VAR_017662 + P02545:p.Arg471Cys chr1 152919844 152919847 VAR_039783 + P02545:p.Tyr481His chr1 152919847 152919850 VAR_009991 + P02545:p.Arg482Leu chr1 152919847 152919850 VAR_009992 + P02545:p.Arg482Gln chr1 152919847 152919850 VAR_009993 + P02545:p.Arg482Trp chr1 152919859 152919862 VAR_009994 + P02545:p.Lys486Asn chr1 152920045 152920048 VAR_039784 + P02545:p.Trp520Ser chr1 152920066 152920069 VAR_017663 + P02545:p.Arg527Cys chr1 152920066 152920069 VAR_018727 + P02545:p.Arg527His chr1 152920066 152920069 VAR_009995 + P02545:p.Arg527Pro chr1 152920069 152920072 VAR_009996 + P02545:p.Thr528Lys chr1 152920069 152920072 VAR_039785 + P02545:p.Thr528Arg chr1 152920072 152920075 VAR_034709 + P02545:p.Ala529Val chr1 152920075 152920078 VAR_009997 + P02545:p.Leu530Pro chr1 152920529 152920532 VAR_039786 + P02545:p.Arg541Cys chr1 152920529 152920532 VAR_039787 + P02545:p.Arg541His chr1 152920529 152920532 VAR_039788 + P02545:p.Arg541Ser chr1 152920532 152920535 VAR_034710 + P02545:p.Lys542Asn chr1 152921369 152921372 VAR_039789 + P02545:p.Ser573Leu chr1 152921384 152921387 VAR_039790 + P02545:p.Glu578Val chr1 152921396 152921399 VAR_009998 + P02545:p.Arg582His chr1 152921474 152921477 VAR_017664 + P02545:p.Gly608Ser chr1 152921522 152921525 VAR_039791 + P02545:p.Arg624His chr1 152921582 152921585 VAR_039792 + P02545:p.Arg644Cys chr5 126189587 126189590 VAR_031646 + P20700:p.Ala501Val chr19 2386148 2386151 VAR_031063 - Q03252:p.Arg215Gln chr19 2386145 2386148 VAR_036370 - Q03252:p.Arg216Trp chr19 2385024 2385027 VAR_031064 - Q03252:p.Ala407Thr chr3 69250881 69250884 VAR_034083 - Q0VAK6:p.Lys438Met chr17 76710302 76710305 VAR_032682 - Q6ZMQ8:p.Gly703Cys chr7 97381227 97381230 VAR_028940 + Q8IWU2:p.Pro30Ala chr7 97465877 97465880 VAR_041727 + Q8IWU2:p.Asp484His chr7 97466210 97466213 VAR_041728 + Q8IWU2:p.Val595Ile chr7 97466297 97466300 VAR_041729 + Q8IWU2:p.Val624Met chr7 97466504 97466507 VAR_041730 + Q8IWU2:p.Ile693Thr chr7 97466765 97466768 VAR_028941 + Q8IWU2:p.Leu780Met chr7 97466972 97466975 VAR_041731 + Q8IWU2:p.Val849Phe chr7 97467011 97467014 VAR_041732 + Q8IWU2:p.Ala862Thr chr7 97467173 97467176 VAR_041733 + Q8IWU2:p.Ser916Arg chr7 97467608 97467611 VAR_028942 + Q8IWU2:p.Asp1061Asn chr7 97468085 97468088 VAR_041734 + Q8IWU2:p.Asp1220Asn chr7 97468448 97468451 VAR_041735 + Q8IWU2:p.Ala1341Gly chr7 97477629 97477632 VAR_041736 + Q8IWU2:p.Ser1401Asn chr13 27041226 27041229 VAR_024612 - Q8N448:p.Ser198Pro chr2 100396524 100396527 VAR_030590 - Q1L5Z9:p.Leu183Pro chr2 100369279 100369282 VAR_035953 - Q1L5Z9:p.Arg562Trp chrX 117890988 117890991 VAR_035954 + Q496Y0:p.Ala122Gly chr17 6843476 6843479 VAR_030471 + P18054:p.Glu259Lys chr17 6843482 6843485 VAR_018743 + P18054:p.Gln261Arg chr17 6844462 6844465 VAR_004279 + P18054:p.Ala298Thr chr17 6845656 6845659 VAR_018744 + P18054:p.Asn322Ser chr17 6849939 6849942 VAR_018745 + P18054:p.Arg430His chr17 4489540 4489543 VAR_018746 - P16050:p.Asp90His chr17 4489504 4489507 VAR_035036 - P16050:p.Gly102Val chr17 4489501 4489504 VAR_018747 - P16050:p.Asn103Lys chr17 4488655 4488658 VAR_018748 - P16050:p.Arg205Gln chr17 4488350 4488353 VAR_035037 - P16050:p.Val239Met chr17 4483224 4483227 VAR_035038 - P16050:p.Ala461Pro chr17 4482061 4482064 VAR_035039 - P16050:p.Thr560Met chr10 45240511 45240514 VAR_028018 + P09917:p.Glu254Lys chr8 23223295 23223298 VAR_024527 - Q9Y4K0:p.Met570Leu chr2 11856430 11856433 VAR_035874 + Q14693:p.Gly56Glu chr2 11893679 11893682 VAR_013885 + Q14693:p.Pro610Ser chr18 2912169 2912172 VAR_023817 - Q92539:p.Ser734Leu chr20 31340341 31340344 VAR_016756 + Q8TDL5:p.Ile84Val chr20 31352843 31352846 VAR_023361 + Q8TDL5:p.Ser298Pro chr20 31353834 31353837 VAR_023362 + Q8TDL5:p.Ser313Ile chr20 31361213 31361216 VAR_016757 + Q8TDL5:p.Ser479Thr chr19 11332963 11332966 VAR_038546 + Q96GM1:p.Thr155Met chr19 765905 765908 VAR_038544 - Q6T4P5:p.Ile193Thr chr19 763656 763659 VAR_038545 - Q6T4P5:p.Ala690Val chr3 189810256 189810259 VAR_034070 + Q93052:p.Tyr346His chr1 21886510 21886513 VAR_034812 + Q5SZI1:p.Asn134Thr chr4 156023605 156023608 VAR_018386 + O95237:p.Ser175Arg chr4 151869581 151869584 VAR_035883 - P50851:p.Gln2038His chr4 151715612 151715615 VAR_035884 - P50851:p.Gly2274Arg chr4 151564738 151564741 VAR_035885 - P50851:p.Thr2701Lys chr4 151556683 151556686 VAR_022028 - P50851:p.Ser2809Leu chr10 49792185 49792188 VAR_028161 - Q8N456:p.Gly7Val chr10 49792113 49792116 VAR_028162 - Q8N456:p.Arg31His chr15 97691766 97691769 VAR_034084 + Q86X40:p.Arg168His chr3 171055327 171055330 VAR_034085 - Q6UY01:p.Leu322Phe chr1 13547676 13547679 VAR_037504 - Q5VT99:p.Leu276Phe chr1 13547628 13547631 VAR_037505 - Q5VT99:p.Lys292Glu chr1 100336848 100336851 VAR_034087 - Q96DD0:p.Ile121Leu chr1 70366969 70366972 VAR_034088 - Q9H9A6:p.Gln53Pro chr1 70328848 70328851 VAR_034089 - Q9H9A6:p.Ile500Val chr1 3735618 3735621 VAR_035471 - Q8N1G4:p.Glu193Asp chr11 530717 530720 VAR_034090 + Q8IYG6:p.Arg12Gln chr11 544165 544168 VAR_025782 + Q8IYG6:p.Arg507Gly chr11 544213 544216 VAR_025783 + Q8IYG6:p.Asp523His chr1 89761484 89761487 VAR_025275 + Q6P9F7:p.Gln419Lys chr11 66382808 66382811 VAR_024499 + Q6PJG9:p.Val340Ala chr3 66517330 66517333 VAR_031581 - Q96JA1:p.Met615Val chr3 66513967 66513970 VAR_031582 - Q96JA1:p.Gly926Ser chr3 66513874 66513877 VAR_031583 - Q96JA1:p.Ala957Thr chr3 66513565 66513568 VAR_031584 - Q96JA1:p.Pro1031Arg chr3 66513499 66513502 VAR_031585 - Q96JA1:p.Gln1053Pro chr12 83934506 83934509 VAR_037672 + Q96JM4:p.Ile29Asn chr12 83940965 83940968 VAR_037673 + Q96JM4:p.Cys83Tyr chr12 83969190 83969193 VAR_037674 + Q96JM4:p.Ala912Thr chr10 85981761 85981764 VAR_020081 - Q9P2V4:p.Ser591Gly chr14 22412421 22412424 VAR_018172 + Q7Z4F1:p.Arg48Trp chr14 22414411 22414414 VAR_034097 + Q7Z4F1:p.Met139Val chr6 150276994 150276997 VAR_025537 - Q86VZ4:p.Pro92Arg chr6 150249533 150249536 VAR_025538 - Q86VZ4:p.Arg351His chr2 141066592 141066595 VAR_018328 - Q9NZR2:p.Arg3157Cys chr12 55825068 55825071 VAR_021885 + Q07954:p.Asn166Asp chr12 55825347 55825350 VAR_014725 + Q07954:p.Ala217Val chr12 55845928 55845931 VAR_035994 + Q07954:p.Glu869Lys chr12 55864490 55864493 VAR_029181 + Q07954:p.Val2059Leu chr12 55885241 55885244 VAR_035995 + Q07954:p.Arg3760His chr19 38390129 38390132 VAR_018171 + O75074:p.Val708Ala chr11 67836809 67836818 VAR_021804 + O75197:p.18_20del chr11 67836815 67836818 VAR_021805 + O75197:p.Leu20Leu chr11 67872063 67872066 VAR_021806 + O75197:p.Gln89Arg chr11 67872129 67872132 VAR_021807 + O75197:p.Asp111Tyr chr11 67881715 67881718 VAR_021808 + O75197:p.Gly171Arg chr11 67881715 67881718 VAR_021809 + O75197:p.Gly171Val chr11 67881721 67881724 VAR_018465 + O75197:p.Thr173Met chr11 67881844 67881847 VAR_021810 + O75197:p.Ala214Thr chr11 67881844 67881847 VAR_021811 + O75197:p.Ala214Val chr11 67887827 67887830 VAR_021812 + O75197:p.Ala242Thr chr11 67887860 67887863 VAR_021813 + O75197:p.Thr253Ile chr11 67913991 67913994 VAR_021814 + O75197:p.Arg494Gln chr11 67927649 67927652 VAR_021222 + O75197:p.Arg570Gln chr11 67927649 67927652 VAR_021815 + O75197:p.Arg570Trp chr11 67930764 67930767 VAR_021816 + O75197:p.Val667Met chr11 67934119 67934122 VAR_021223 + O75197:p.Arg752Cys chr11 67950095 67950098 VAR_018466 + O75197:p.Tyr1168His chr11 67950203 67950206 VAR_035208 + O75197:p.Val1204Leu chr11 67957869 67957872 VAR_021817 + O75197:p.Ala1330Val chr11 67961012 67961015 VAR_018467 + O75197:p.Cys1361Gly chr11 67961030 67961033 VAR_021224 + O75197:p.Glu1367Lys chr11 67970563 67970566 VAR_021225 + O75197:p.Ala1525Val chr12 12224106 12224109 VAR_030349 - O75581:p.Val483Ile chr12 12208692 12208695 VAR_034701 - O75581:p.Arg611Cys chr12 12203993 12203996 VAR_030350 - O75581:p.Ser817Cys chr12 12171000 12171003 VAR_034702 - O75581:p.Arg1401His chr6 53870050 53870053 VAR_019431 + Q9BTT6:p.Ile193Val chr7 127262907 127262910 VAR_035519 - Q9HBW1:p.Thr579Ala chr8 133706839 133706842 VAR_023603 - Q86X45:p.Thr232Ile chr8 133653738 133653741 VAR_031223 - Q86X45:p.Ile466Thr chr1 70163975 70163978 VAR_035715 + Q96NW7:p.Leu235Met chr2 238411417 238411420 VAR_036037 + Q32MZ4:p.Ser68Cys chr2 238450781 238450784 VAR_027291 + Q32MZ4:p.Gln275Arg chr2 238453607 238453610 VAR_027292 + Q32MZ4:p.Asn418Ser chr2 238454180 238454183 VAR_027293 + Q32MZ4:p.Glu609Lys chr2 238454288 238454291 VAR_027294 + Q32MZ4:p.Pro645Leu chr2 238454690 238454693 VAR_027295 + Q32MZ4:p.Arg779Gly chr2 238454702 238454705 VAR_027296 + Q32MZ4:p.His783Asp chr12 38915701 38915704 VAR_024932 + Q5S007:p.Leu119Pro chr12 38933051 38933054 VAR_033903 + Q5S007:p.Ala419Val chr12 38943964 38943967 VAR_024933 + Q5S007:p.Asn551Lys chr12 38958255 38958258 VAR_024934 + Q5S007:p.Ile723Val chr12 38963964 38963967 VAR_033904 + Q5S007:p.Pro755Leu chr12 38964078 38964081 VAR_024935 + Q5S007:p.Arg793Met chr12 38973711 38973714 VAR_024936 + Q5S007:p.Gln930Arg chr12 38974934 38974937 VAR_024937 + Q5S007:p.Asp944Tyr chr12 38978413 38978416 VAR_024938 + Q5S007:p.Arg1067Gln chr12 38978500 38978503 VAR_024939 + Q5S007:p.Ser1096Cys chr12 38979193 38979196 VAR_024940 + Q5S007:p.Ile1122Val chr12 38984107 38984110 VAR_024941 + Q5S007:p.Ser1228Thr chr12 38985859 38985862 VAR_024942 + Q5S007:p.Pro1262Ala chr12 38988686 38988689 VAR_024943 + Q5S007:p.Ile1371Val chr12 38989176 38989179 VAR_024944 + Q5S007:p.Arg1398His chr12 38990502 38990505 VAR_024945 + Q5S007:p.Arg1441Cys chr12 38990502 38990505 VAR_024946 + Q5S007:p.Arg1441Gly chr12 38990502 38990505 VAR_024947 + Q5S007:p.Arg1441His chr12 38994043 38994046 VAR_024948 + Q5S007:p.Arg1514Gln chr12 38994127 38994130 VAR_024949 + Q5S007:p.Pro1542Ser chr12 38994151 38994154 VAR_040678 + Q5S007:p.Arg1550Gln chr12 38995333 38995336 VAR_024950 + Q5S007:p.Val1598Glu chr12 39000110 39000113 VAR_024951 + Q5S007:p.Arg1628Pro chr12 39000164 39000167 VAR_024952 + Q5S007:p.Met1646Thr chr12 39000167 39000170 VAR_024953 + Q5S007:p.Ser1647Thr chr12 39001181 39001184 VAR_024954 + Q5S007:p.Tyr1699Cys chr12 39001253 39001256 VAR_040679 + Q5S007:p.Arg1723Pro chr12 39003323 39003326 VAR_024955 + Q5S007:p.Met1869Thr chr12 39015098 39015101 VAR_024956 + Q5S007:p.Arg1941His chr12 39020447 39020450 VAR_024957 + Q5S007:p.Ile2012Thr chr12 39020468 39020471 VAR_024958 + Q5S007:p.Gly2019Ser chr12 39020471 39020474 VAR_024959 + Q5S007:p.Ile2020Thr chr12 39026952 39026955 VAR_024960 + Q5S007:p.Asn2081Asp chr12 39028551 39028554 VAR_024961 + Q5S007:p.Pro2119Leu chr12 39036193 39036196 VAR_024962 + Q5S007:p.Asn2261Ile chr12 39043507 39043510 VAR_024963 + Q5S007:p.Thr2356Ile chr12 39043594 39043597 VAR_024964 + Q5S007:p.Gly2385Arg chr12 39044917 39044920 VAR_024965 + Q5S007:p.Met2397Thr chr1 201320756 201320759 VAR_021921 - O75325:p.Pro7Leu chr1 201319223 201319226 VAR_021922 - O75325:p.Leu518Val chr2 80441612 80441615 VAR_022681 - Q86UE6:p.Asn330Ser chr9 127321719 127321722 VAR_021051 + Q6UWE0:p.Asn318Asp chr19 39404456 39404459 VAR_022884 + Q8ND56:p.Arg448Gln chr19 54211753 54211756 VAR_034098 - P01229:p.Met15Ile chr19 54211744 54211747 VAR_015672 - P01229:p.Ala18Thr chr19 54211714 54211717 VAR_014589 - P01229:p.Trp28Arg chr19 54211693 54211696 VAR_014590 - P01229:p.Ile35Thr chr19 54211340 54211343 VAR_003189 - P01229:p.Gln74Arg chr19 54211196 54211199 VAR_015673 - P01229:p.Gly122Ser chr2 48894407 48894410 VAR_003549 - P22888:p.Gln18Gln chr2 48862476 48862479 VAR_010154 - P22888:p.Cys131Arg chr2 48837418 48837421 VAR_003550 - P22888:p.Asn284Ser chr2 48833042 48833045 VAR_003551 - P22888:p.Ser306Asn chr2 48827557 48827560 VAR_010155 - P22888:p.Cys343Ser chr2 48827524 48827527 VAR_003552 - P22888:p.Glu354Lys chr2 48827467 48827470 VAR_003553 - P22888:p.Ala373Val chr2 48827392 48827395 VAR_003554 - P22888:p.Met398Thr chr2 48827215 48827218 VAR_010156 - P22888:p.Leu457Arg chr2 48826960 48826963 VAR_010157 - P22888:p.Ile542Leu chr2 48826957 48826960 VAR_010158 - P22888:p.Cys543Arg chr2 48826894 48826897 VAR_010159 - P22888:p.Asp564Gly chr2 48826894 48826897 VAR_035764 - P22888:p.Asp564Asn chr2 48826882 48826885 VAR_003555 - P22888:p.Ala568Val chr2 48826873 48826876 VAR_003556 - P22888:p.Met571Ile chr2 48826870 48826873 VAR_003557 - P22888:p.Ala572Val chr2 48826861 48826864 VAR_010160 - P22888:p.Ile575Leu chr2 48826855 48826858 VAR_003558 - P22888:p.Thr577Ile chr2 48826852 48826855 VAR_010161 - P22888:p.Asp578Glu chr2 48826852 48826855 VAR_003559 - P22888:p.Asp578Gly chr2 48826852 48826855 VAR_010162 - P22888:p.Asp578His chr2 48826852 48826855 VAR_010163 - P22888:p.Asp578Tyr chr2 48826843 48826846 VAR_010164 - P22888:p.Cys581Arg chr2 48826807 48826810 VAR_003560 - P22888:p.Ala593Pro chr2 48826759 48826765 VAR_003561 - P22888:p.608_609del chr2 48826738 48826741 VAR_003562 - P22888:p.Ser616Tyr chr2 48826711 48826714 VAR_003563 - P22888:p.Ile625Lys chr11 1859343 1859346 VAR_011867 + P33241:p.Ala100Thr chr11 1862354 1862357 VAR_011868 + P33241:p.Gln229Lys chr9 111439176 111439179 VAR_023111 - Q14914:p.Ala27Ser chr19 45827286 45827289 VAR_037120 + Q8N2S1:p.Arg635Gly chr15 39592527 39592530 VAR_031569 - P29376:p.Arg42Gln chr12 49729210 49729213 VAR_037033 + Q6P1Q0:p.Val84Ile chr1 23164686 23164689 VAR_026283 - Q86V48:p.Gly458Ser chr1 23164677 23164680 VAR_026284 - Q86V48:p.Gln461Lys chr1 23163456 23163459 VAR_026285 - Q86V48:p.Asp868Asn chr11 25055513 25055516 VAR_038165 + Q86TE4:p.Glu308Gln chr19 50007283 50007286 VAR_021348 + P50895:p.Arg77His chr19 50008427 50008430 VAR_021349 + P50895:p.Val196Ile chr19 50008542 50008545 VAR_021350 + P50895:p.Met204Lys chr19 50009307 50009310 VAR_021351 + P50895:p.Arg282His chr19 50013680 50013683 VAR_021352 + P50895:p.Val381Ile chr19 50014166 50014169 VAR_021353 + P50895:p.Lys451Gln chr19 50014583 50014586 VAR_021354 + P50895:p.Thr539Ala chr19 50014800 50014803 VAR_021355 + P50895:p.Gln581Leu chr17 7920783 7920786 VAR_015173 - O75342:p.Leu426Pro chr17 7917720 7917723 VAR_015174 - O75342:p.His578Gln chr17 7892515 7892518 VAR_035040 + O15296:p.Ile647Val chr17 7892602 7892605 VAR_024525 + O15296:p.Ile676Val chr3 159871480 159871483 VAR_019117 - Q9BS40:p.His53Arg chr8 143864904 143864907 VAR_038712 - Q14210:p.Ala10Thr chr2 160561333 160561336 VAR_027825 - O60449:p.Lys486Met chr2 160554509 160554512 VAR_024522 - O60449:p.Asp692Asn chr2 160535658 160535661 VAR_027827 - O60449:p.Asp884Ala chr2 160517564 160517567 VAR_027828 - O60449:p.Thr1202Ser chr2 160501855 160501858 VAR_027830 - O60449:p.Lys1347Arg chr6 6571577 6571580 VAR_024531 + O95711:p.Ser93Pro chr6 6599847 6599850 VAR_014539 + O95711:p.Met160Val chr8 75103828 75103831 VAR_024532 + Q9Y6Y9:p.Pro157Ser chr1 157606632 157606635 VAR_033612 + Q9HBG7:p.Met602Val chr17 75693250 75693253 VAR_004285 + P10253:p.Asp91Asn chr17 75693286 75693289 VAR_018078 + P10253:p.Cys103Gly chr17 75694217 75694220 VAR_029025 + P10253:p.Leu208Pro chr17 75694250 75694253 VAR_018079 + P10253:p.Gly219Arg chr17 75694265 75694268 VAR_029026 + P10253:p.Arg224Trp chr17 75695966 75695969 VAR_029027 + P10253:p.Ala237Val chr17 75696041 75696044 VAR_029028 + P10253:p.Glu262Lys chr17 75696110 75696113 VAR_018080 + P10253:p.Pro285Arg chr17 75696208 75696211 VAR_018081 + P10253:p.Tyr292Cys chr17 75696211 75696214 VAR_018082 + P10253:p.Gly293Arg chr17 75696229 75696232 VAR_004288 + P10253:p.Leu299Arg chr17 75696256 75696259 VAR_018083 + P10253:p.His308Pro chr17 75696259 75696262 VAR_018084 + P10253:p.Gly309Arg chr17 75696268 75696271 VAR_018085 + P10253:p.Leu312Arg chr17 75696286 75696289 VAR_004289 + P10253:p.Met318Thr chr17 75696697 75696700 VAR_029029 + P10253:p.Pro324Leu chr17 75696715 75696718 VAR_029030 + P10253:p.Trp330Gly chr17 75696790 75696793 VAR_018086 + P10253:p.Leu355Pro chr17 75696887 75696890 VAR_029031 + P10253:p.Pro361Leu chr17 75696926 75696929 VAR_018087 + P10253:p.Cys374Arg chr17 75696935 75696938 VAR_029032 + P10253:p.Gly377Arg chr17 75697099 75697102 VAR_004290 + P10253:p.Trp402Arg chr17 75697105 75697108 VAR_029033 + P10253:p.Asp404Asn chr17 75697108 75697111 VAR_018088 + P10253:p.Leu405Pro chr17 75697117 75697120 VAR_029034 + P10253:p.Met408Val chr17 75697204 75697207 VAR_029035 + P10253:p.Arg437Cys chr17 75698344 75698347 VAR_029036 + P10253:p.Ala445Pro chr17 75698374 75698377 VAR_018089 + P10253:p.Tyr455Phe chr17 75698380 75698383 VAR_029040 + P10253:p.Pro457Leu chr17 75698386 75698389 VAR_018090 + P10253:p.459del chr17 75698443 75698446 VAR_004291 + P10253:p.Gly478Arg chr17 75699123 75699126 VAR_004292 + P10253:p.Trp481Arg chr17 75699147 75699150 VAR_029037 + P10253:p.Asp489Asn chr17 75699337 75699340 VAR_004293 + P10253:p.Met519Thr chr17 75699337 75699340 VAR_004294 + P10253:p.Met519Val chr17 75699343 75699346 VAR_004295 + P10253:p.Glu521Lys chr17 75699367 75699370 VAR_004296 + P10253:p.Ser529Val chr17 75699415 75699418 VAR_004297 + P10253:p.Pro545Leu chr17 75700384 75700387 VAR_018091 + P10253:p.Gly549Arg chr17 75700393 75700396 VAR_018092 + P10253:p.Leu552Pro chr17 75700435 75700438 VAR_004298 + P10253:p.Ser566Pro chr17 75700462 75700465 VAR_018093 + P10253:p.Tyr575Ser chr17 75700465 75700468 VAR_004299 + P10253:p.Gly576Ala chr17 75700465 75700468 VAR_004300 + P10253:p.Gly576Ser chr17 75700474 75700477 VAR_018094 + P10253:p.Glu579Lys chr17 75701014 75701017 VAR_018095 + P10253:p.Arg600Cys chr17 75701014 75701017 VAR_008689 + P10253:p.Arg600His chr17 75701035 75701038 VAR_018096 + P10253:p.Gly607Asp chr17 75701050 75701053 VAR_029038 + P10253:p.His612Gln chr17 75701059 75701062 VAR_008690 + P10253:p.Gly615Arg chr17 75701307 75701310 VAR_004301 + P10253:p.Gly643Arg chr17 75701313 75701316 VAR_004302 + P10253:p.Asp645Glu chr17 75701313 75701316 VAR_004303 + P10253:p.Asp645His chr17 75701313 75701316 VAR_004304 + P10253:p.Asp645Asn chr17 75701319 75701322 VAR_004305 + P10253:p.Cys647Trp chr17 75701322 75701325 VAR_004306 + P10253:p.Gly648Ser chr17 75701394 75701397 VAR_004307 + P10253:p.Arg672Gln chr17 75701394 75701397 VAR_004308 + P10253:p.Arg672Trp chr17 75701403 75701406 VAR_008692 + P10253:p.675del chr17 75701635 75701638 VAR_004309 + P10253:p.Glu689Lys chr17 75701743 75701746 VAR_004310 + P10253:p.Arg725Trp chr17 75705407 75705410 VAR_004311 + P10253:p.Trp746Cys chr17 75705473 75705476 VAR_004312 + P10253:p.Pro768Arg chr17 75706107 75706110 VAR_004314 + P10253:p.Val816Ile chr17 75706742 75706745 VAR_018097 + P10253:p.Ala880Asp chr17 75707100 75707103 VAR_029039 + P10253:p.Leu901Gln chr17 75707106 75707109 VAR_004315 + P10253:p.903del chr17 75707172 75707175 VAR_004316 + P10253:p.Asn925Asn chr17 75707178 75707181 VAR_004317 + P10253:p.Thr927Ile chr17 75707710 75707713 VAR_004318 + P10253:p.Val949Asp chr1 166408141 166408144 VAR_019134 - P14151:p.Phe193Leu chr1 166405529 166405532 VAR_019135 - P14151:p.Glu201Gln chr1 166405493 166405496 VAR_019136 - P14151:p.Pro213Ser chr1 166392594 166392597 VAR_019137 - P14151:p.Asn369Asp chr1 166433771 166433774 VAR_014300 - P16581:p.Ala21Ser chr1 166433741 166433744 VAR_014301 - P16581:p.Met31Ile chr1 166433444 166433447 VAR_011790 - P16581:p.Cys130Trp chr1 166432715 166432718 VAR_004191 - P16581:p.Ser149Arg chr1 166430416 166430419 VAR_014302 - P16581:p.Gln257Pro chr1 166430302 166430305 VAR_011791 - P16581:p.Glu295Lys chr1 166428872 166428875 VAR_011792 - P16581:p.Glu421Gln chr1 166428601 166428604 VAR_011793 - P16581:p.His468Tyr chr1 166427600 166427603 VAR_014303 - P16581:p.Pro550Ser chr1 166427525 166427528 VAR_011794 - P16581:p.Leu575Phe chr1 166314533 166314536 VAR_019381 - P16109:p.Gly179Arg chr1 166313972 166313975 VAR_013910 - P16109:p.Val209Met chr1 166313909 166313912 VAR_019382 - P16109:p.Cys230Phe chr1 166313170 166313173 VAR_013911 - P16109:p.Pro301Leu chr1 166312541 166312544 VAR_004192 - P16109:p.Ser331Asn chr1 166312439 166312442 VAR_013912 - P16109:p.Met365Val chr1 166310577 166310580 VAR_019384 - P16109:p.Ser385Leu chr1 166307863 166307866 VAR_013913 - P16109:p.Ser500Phe chr1 166304000 166304003 VAR_019385 - P16109:p.Glu542Lys chr1 166297920 166297923 VAR_019386 - P16109:p.Ser619Ala chr1 166296938 166296941 VAR_019388 - P16109:p.Thr661Asn chr1 166296902 166296905 VAR_019389 - P16109:p.Asn673Ser chr1 166295606 166295609 VAR_004195 - P16109:p.Thr756Pro chr4 4394544 4394547 VAR_023080 - Q9NX58:p.Asp151Tyr chr4 4394202 4394205 VAR_023081 - Q9NX58:p.His265Arg chr5 121441105 121441108 VAR_004282 - P28300:p.Arg158Gln chr1 215772297 215772300 VAR_025607 + Q5VWZ2:p.Ile131Met chr6 90404229 90404232 VAR_034099 - Q9NU23:p.Lys46Glu chr6 5205932 5205935 VAR_024551 - Q9HD34:p.Ser11Ala chr12 68030237 68030240 VAR_004280 + P61626:p.Ile74Thr chr12 68030270 68030273 VAR_004281 + P61626:p.Asp85His chr12 68030279 68030282 VAR_012050 + P61626:p.Thr88Asn chr15 49804562 49804565 VAR_027198 - Q8IV50:p.Ile107Val chr15 49804391 49804394 VAR_027199 - Q8IV50:p.Ser164Phe chr15 98087270 98087273 VAR_027200 - Q5XG99:p.Ala157Val chr15 98087258 98087261 VAR_027201 - Q5XG99:p.Ala161Val chr15 98087201 98087204 VAR_027202 - Q5XG99:p.Ala180Gly chr1 232299789 232299792 VAR_022029 - Q99698:p.His123Arg chr1 232299582 232299585 VAR_024699 - Q99698:p.Leu192Val chr1 232255543 232255546 VAR_013557 - Q99698:p.Val1999Asp chr11 10542111 10542114 VAR_027763 - Q9Y5Y7:p.Trp116Arg chr11 10538678 10538681 VAR_027764 - Q9Y5Y7:p.Thr214Ile chr11 10537257 10537260 VAR_027765 - Q9Y5Y7:p.Val315Met chr17 31285942 31285945 VAR_026819 - O75951:p.Phe139Ser chr8 20156885 20156888 VAR_018274 - Q9Y250:p.Ser29Pro chr8 20155364 20155367 VAR_018275 - Q9Y250:p.Lys119Glu chr8 20151878 20151881 VAR_018276 - Q9Y250:p.Leu475Val chr10 102752645 102752648 VAR_036364 + Q9BRK4:p.Arg121His chr10 102753715 102753718 VAR_036365 + Q9BRK4:p.Gly291Arg chr10 102753739 102753742 VAR_018277 + Q9BRK4:p.Arg299Trp chr22 48832957 48832960 VAR_034100 + Q9BXT6:p.Met57Leu chr22 48849122 48849125 VAR_020148 + Q9BXT6:p.Arg182Cys chr22 48858142 48858145 VAR_013694 + Q9BXT6:p.Ile454Leu chr22 48874929 48874932 VAR_013695 + Q9BXT6:p.Val650Ile chr22 48875492 48875495 VAR_034101 + Q9BXT6:p.Ser683Gly chr22 48885081 48885084 VAR_013696 + Q9BXT6:p.Gln820Arg chr22 48901921 48901924 VAR_013697 + Q9BXT6:p.Ala1179Glu chr14 20532888 20532891 VAR_037422 + Q9H7H0:p.Gly289Ala chr14 20534246 20534249 VAR_037423 + Q9H7H0:p.Ala346Pro chr5 78387436 78387439 VAR_011505 - Q9UI17:p.His109Arg chr5 78376039 78376042 VAR_014950 - Q9UI17:p.Ser279Pro chr11 65137350 65137353 VAR_040703 - Q16584:p.Asp151Val chr11 65132478 65132481 VAR_030604 - Q16584:p.Pro252His chr11 65132388 65132391 VAR_040704 - Q16584:p.Ala282Gly chr3 186667358 186667361 VAR_040708 + O43283:p.Arg517Gly chr3 186673954 186673957 VAR_040709 + O43283:p.Glu712Lys chr3 186674056 186674059 VAR_040710 + O43283:p.Pro746Leu chr3 186680962 186680965 VAR_030577 + O43283:p.Arg915His chr10 30788354 30788408 VAR_006198 + P41279:p.Cys398_Lys415delins chr10 30788408 30789768 VAR_006199 + P41279:p.416_467del chr11 59699450 59699453 VAR_015652 - Q9H2W1:p.Ala183Ser chr11 59697172 59697175 VAR_015653 - Q9H2W1:p.Thr185Ser chr11 59859082 59859085 VAR_015654 + Q96DS6:p.Val47Phe chr19 4810934 4810937 VAR_022780 - O60664:p.Ile56Val chr6 119542691 119542694 VAR_034102 - P33908:p.Arg651Gly chr19 12637562 12637565 VAR_003338 - O00754:p.His72Leu chr19 12636635 12636638 VAR_026412 - O00754:p.His200Leu chr19 12635205 12635208 VAR_003339 - O00754:p.Leu278Val chr19 12633163 12633166 VAR_003340 - O00754:p.Thr312Ile chr19 12633088 12633091 VAR_003341 - O00754:p.Arg337Gln chr19 12630285 12630288 VAR_003342 - O00754:p.Thr355Pro chr19 12630282 12630285 VAR_003343 - O00754:p.Pro356Arg chr19 12630061 12630064 VAR_003344 - O00754:p.Glu402Lys chr19 12629946 12629949 VAR_003345 - O00754:p.Asn413Ser chr19 12629319 12629322 VAR_026413 - O00754:p.Ser453Tyr chr19 12621940 12621943 VAR_003346 - O00754:p.Trp714Arg chr19 12621743 12621746 VAR_003347 - O00754:p.Arg750Trp chr19 12620982 12620985 VAR_026414 - O00754:p.Gly801Asp chr19 12620958 12620961 VAR_003348 - O00754:p.Leu809Pro chr15 73435700 73435703 VAR_021914 - Q9NTJ4:p.Val960Ile chr1 36305927 36305930 VAR_035312 + Q3KQU3:p.Arg104Trp chr1 163690367 163690370 VAR_034103 + Q96JY0:p.Ser41Ala chr16 78190436 78190439 VAR_029369 - O75444:p.Arg288Pro chr16 78190409 78190412 VAR_029370 - O75444:p.Lys297Arg chrX 151967115 151967118 VAR_004283 - P43355:p.Thr32Ala chrX 151966995 151966998 VAR_011737 - P43355:p.Arg72Gln chrX 151966377 151966380 VAR_036581 - P43355:p.Lys278Thr chrX 29997305 29997308 VAR_027676 + O15479:p.Gly318Arg chrX 27599272 27599275 VAR_026773 + Q96LZ2:p.Arg65Gln chrX 141017275 141017278 VAR_036583 - Q9UBF1:p.Gly6Cys chrX 54724764 54724767 VAR_036584 + Q9UNF1:p.Lys458Gln chrX 75432940 75432943 VAR_036585 + Q9HCI5:p.Tyr640Phe chrX 75433012 75433015 VAR_036586 + Q9HCI5:p.Thr664Asn chr5 179134451 179134454 VAR_029010 + Q92585:p.Ser1007Asn chr12 63850420 63850423 VAR_034605 + Q9Y2U8:p.Asp260Tyr chr4 103969045 103969048 VAR_026232 - O00462:p.Val253Ile chr4 103914278 103914281 VAR_026233 - O00462:p.Thr701Met chr6 96160603 96160606 VAR_036242 + Q5SRI9:p.Tyr331Cys chr12 12387350 12387353 VAR_021840 - Q9H8J5:p.Val55Ile chr12 12374398 12374401 VAR_021841 - Q9H8J5:p.Asn375Tyr chr18 46693265 46693268 VAR_034104 + P23368:p.Pro114Leu chr5 71527035 71527038 VAR_036017 + P46821:p.Val574Met chr19 17698423 17698426 VAR_037236 + Q66K74:p.Ser411Cys chr19 17698804 17698807 VAR_037237 + Q66K74:p.Pro538Gln chr2 210343643 210343646 VAR_019612 + P11137:p.Ala82Gly chr2 210383228 210383231 VAR_036014 + P11137:p.Glu277Asp chr2 210383666 210383669 VAR_019613 + P11137:p.Arg423Lys chr2 210384512 210384515 VAR_036015 + P11137:p.Pro705Leu chr3 48015285 48015288 VAR_039566 - P27816:p.Arg23Gln chr3 47933222 47933225 VAR_039567 - P27816:p.Pro366Leu chr3 47933219 47933222 VAR_039568 - P27816:p.Ser367Pro chr3 47933093 47933096 VAR_039569 - P27816:p.Asp409Gly chr3 47933039 47933042 VAR_020361 - P27816:p.Ser427Tyr chr3 47932997 47933000 VAR_020362 - P27816:p.Glu441Gln chr3 47883823 47883826 VAR_039571 - P27816:p.Ile994Val chr6 136728755 136728758 VAR_034091 - Q14244:p.Val361Ile chr6 136723958 136723961 VAR_034092 - Q14244:p.Arg526Pro chr6 136723862 136723865 VAR_028880 - Q14244:p.Arg558Trp chr22 21223785 21223788 VAR_021258 - P78395:p.Trp7Arg chr2 119455291 119455294 VAR_024650 + Q9UEW3:p.Phe282Ser chr6 114288196 114288199 VAR_025825 + P29966:p.Pro250Leu chr6 114288268 114288271 VAR_025826 + P29966:p.Ala274Val chr19 8392883 8392886 VAR_030303 + Q9P0N8:p.Ala54Thr chr5 10464616 10464619 VAR_030251 + O60337:p.Pro622Leu chr2 160425222 160425225 VAR_030284 + Q9H992:p.Thr100Ser chr2 160429884 160429887 VAR_030285 + Q9H992:p.Thr193Ile chr2 160430442 160430445 VAR_030286 + Q9H992:p.Gly379Ser chr10 45276831 45276834 VAR_030266 - Q5T0T0:p.Pro92Ser chr10 45273770 45273773 VAR_030267 - Q5T0T0:p.Tyr266His chr12 56438674 56438677 VAR_030246 + Q86YJ5:p.Gln257His chr12 56438824 56438827 VAR_030247 + Q86YJ5:p.Thr307Pro chr17 58168237 58168240 VAR_029461 - Q8NA82:p.Gly241Glu chr17 58142425 58142428 VAR_029463 - Q8NA82:p.Glu742Lys chr1 217180190 217180193 VAR_040760 + Q9P0L2:p.Tyr233Cys chr1 217193990 217193993 VAR_040761 + Q9P0L2:p.Asn355Thr chr1 217213738 217213741 VAR_040762 + Q9P0L2:p.Val530Met chr1 217213882 217213885 VAR_040763 + Q9P0L2:p.Pro578Leu chr1 217215033 217215036 VAR_030018 + Q9P0L2:p.Arg645Gly chr1 217223585 217223588 VAR_040764 + Q9P0L2:p.Glu691Gly chr1 11040993 11040996 VAR_025344 - O00187:p.Arg99Gln chr1 11040936 11040939 VAR_025345 - O00187:p.Arg118Cys chr1 11040930 11040933 VAR_025346 - O00187:p.Asp120Gly chr1 11040912 11040915 VAR_025347 - O00187:p.Pro126Leu chr1 11039809 11039812 VAR_028784 - O00187:p.His155Arg chr1 11025161 11025164 VAR_028786 - O00187:p.Val377Ala chr1 11021951 11021954 VAR_028787 - O00187:p.Arg439His chr10 27490062 27490065 VAR_022838 + Q96GX5:p.Glu167Asp chr10 27498902 27498905 VAR_040792 + Q96GX5:p.Thr337Lys chr10 27499721 27499724 VAR_040793 + Q96GX5:p.Val610Ile chr10 27499751 27499754 VAR_022839 + Q96GX5:p.Pro620Ala chr5 162877818 162877821 VAR_032318 + Q9NZL9:p.Ala293Thr chr2 20133987 20133990 VAR_019881 - O15232:p.Pro11Ser chr2 20127607 20127610 VAR_020844 - O15232:p.Phe105Ser chr2 20127562 20127565 VAR_019882 - O15232:p.Thr120Met chr2 20127559 20127562 VAR_013691 - O15232:p.Arg121Trp chr2 20127538 20127541 VAR_019883 - O15232:p.Ala128Pro chr2 20127520 20127523 VAR_019884 - O15232:p.Glu134Lys chr2 20127346 20127349 VAR_019885 - O15232:p.Ile192Asn chr2 20127340 20127343 VAR_013692 - O15232:p.Val194Asp chr2 20127265 20127268 VAR_019886 - O15232:p.Ala219Asp chr2 20127166 20127169 VAR_019887 - O15232:p.Glu252Lys chr2 20124556 20124559 VAR_015852 - O15232:p.Thr303Met chr2 20124553 20124556 VAR_019888 - O15232:p.Cys304Ser chr20 3794395 3794398 VAR_018448 + Q7Z434:p.Ser409Phe chr13 34948065 34948068 VAR_037568 - Q13394:p.Ser70Pro chr17 4405344 4405347 VAR_023064 - Q9BQG0:p.Gln8Glu chr18 46054174 46054177 VAR_019513 - Q9UIS9:p.Pro401Ala chr3 130639412 130639415 VAR_029306 - O95243:p.Cys61Arg chr3 130638365 130638368 VAR_019357 - O95243:p.Ala273Ser chr3 130638365 130638368 VAR_019514 - O95243:p.Ala273Thr chr3 130638158 130638161 VAR_019358 - O95243:p.Ser342Pro chr3 130638146 130638149 VAR_019359 - O95243:p.Glu346Lys chr3 130638110 130638113 VAR_019515 - O95243:p.Ile358Thr chr3 130633080 130633083 VAR_019360 - O95243:p.Asp568His chr2 149059673 149059676 VAR_037561 + Q9P267:p.Thr144Ile chr2 149060624 149060627 VAR_037562 + Q9P267:p.Arg461His chr2 149061203 149061206 VAR_037563 + Q9P267:p.Asp654Glu chr2 149061206 149061209 VAR_037564 + Q9P267:p.Ala655Thr chr2 149061272 149061275 VAR_037565 + Q9P267:p.Ser677Asn chr2 149074460 149074463 VAR_037566 + Q9P267:p.Ala857Thr chr2 149080773 149080776 VAR_037567 + Q9P267:p.Thr1048Ile chr14 35859524 35859527 VAR_018449 - Q9NS73:p.Leu7His chr14 35859479 35859482 VAR_034093 - Q9NS73:p.Arg22Ser chr10 54201329 54201332 VAR_013294 - P11226:p.Thr24Ala chr10 54201245 54201248 VAR_008543 - P11226:p.Arg52Cys chr10 54201239 54201242 VAR_004182 - P11226:p.Gly54Asp chr10 54201230 54201233 VAR_004183 - P11226:p.Gly57Glu chr2 8949466 8949469 VAR_030068 - Q6ZWT7:p.Thr501Ala chr20 54257210 54257213 VAR_020069 + P41968:p.Thr6Lys chr20 54257435 54257438 VAR_020070 + P41968:p.Val81Ile chr18 56190529 56190532 VAR_038632 - P32245:p.Thr11Ala chr18 56190472 56190475 VAR_010704 - P32245:p.Ser30Arg chr18 56190454 56190457 VAR_038633 - P32245:p.Ser36Tyr chr18 56190451 56190454 VAR_010705 - P32245:p.Asp37Val chr18 56190412 56190415 VAR_038634 - P32245:p.Val50Met chr18 56190388 56190391 VAR_038635 - P32245:p.Ser58Cys chr18 56190376 56190379 VAR_038636 - P32245:p.Asn62Ser chr18 56190328 56190331 VAR_010706 - P32245:p.Pro78Leu chr18 56190286 56190301 VAR_038637 - P32245:p.88_92del chr18 56190271 56190274 VAR_038638 - P32245:p.Asn97Asp chr18 56190256 56190259 VAR_038639 - P32245:p.Ile102Ser chr18 56190256 56190259 VAR_038640 - P32245:p.Ile102Thr chr18 56190253 56190256 VAR_010707 - P32245:p.Val103Ile chr18 56190244 56190247 VAR_038641 - P32245:p.Leu106Pro chr18 56190226 56190229 VAR_010708 - P32245:p.Thr112Met chr18 56190187 56190190 VAR_038642 - P32245:p.Ile125Lys chr18 56190181 56190184 VAR_038643 - P32245:p.Ser127Leu chr18 56190067 56190070 VAR_038644 - P32245:p.Arg165Gln chr18 56190067 56190070 VAR_010709 - P32245:p.Arg165Trp chr18 56190052 56190055 VAR_038645 - P32245:p.Ile170Val chr18 56190037 56190040 VAR_038646 - P32245:p.Ala175Thr chr18 56190019 56190022 VAR_038647 - P32245:p.Gly181Asp chr18 56189905 56189908 VAR_038648 - P32245:p.Ala219Val chr18 56189884 56189887 VAR_038649 - P32245:p.Ile226Thr chr18 56189809 56189812 VAR_010710 - P32245:p.Ile251Leu chr18 56189806 56189809 VAR_010711 - P32245:p.Gly252Ser chr18 56189803 56189806 VAR_038650 - P32245:p.Val253Ile chr18 56189749 56189752 VAR_038651 - P32245:p.Cys271Arg chr18 56189749 56189752 VAR_038652 - P32245:p.Cys271Tyr chr18 56189740 56189743 VAR_015357 - P32245:p.Asn274Ser chr18 56189614 56189617 VAR_038653 - P32245:p.Ile316Ser chr18 56189611 56189614 VAR_010712 - P32245:p.Ile317Thr chr18 56189587 56189590 VAR_038654 - P32245:p.Leu325Phe chr18 13816388 13816391 VAR_013128 + P33032:p.Phe209Leu chr4 107606847 107606850 VAR_025212 + Q12904:p.Pro79Ala chr4 107606922 107606925 VAR_029156 + Q12904:p.Thr104Ala chr7 5830727 5830730 VAR_025521 + Q13155:p.Ala129Gly chr16 10482295 10482298 VAR_031286 + Q5U623:p.Thr537Ile chr16 10482313 10482316 VAR_031287 + Q5U623:p.Ala543Thr chr9 37877932 37877935 VAR_036333 - Q9H1U9:p.Thr205Met chr3 48891812 48891815 VAR_021818 - O43772:p.Arg133Trp chr3 48871553 48871556 VAR_021819 - O43772:p.Asp231His chr3 48871532 48871535 VAR_021820 - O43772:p.Gln238Arg chr3 184257806 184257809 VAR_012785 - Q96RQ3:p.Ala289Val chr3 184246010 184246013 VAR_012786 - Q96RQ3:p.Met325Arg chr3 184242168 184242171 VAR_012787 - Q96RQ3:p.Arg385Ser chr3 184239581 184239584 VAR_012788 - Q96RQ3:p.Leu437Pro chr3 184237909 184237912 VAR_012789 - Q96RQ3:p.His464Pro chr3 184234556 184234559 VAR_012791 - Q96RQ3:p.Ser535Phe chr3 184234481 184234484 VAR_038631 - Q96RQ3:p.Asn560Thr chr5 70931254 70931257 VAR_012792 + Q9HCC0:p.Glu99Gln chr5 70934167 70934170 VAR_012793 + Q9HCC0:p.Arg155Gln chr5 70934203 70934206 VAR_012794 + Q9HCC0:p.Cys167Arg chr5 70935943 70935946 VAR_012795 + Q9HCC0:p.Ser173Leu chr5 70936003 70936006 VAR_012796 + Q9HCC0:p.Arg193Cys chr5 70958249 70958252 VAR_012797 + Q9HCC0:p.Ala218Thr chr5 70963766 70963768 VAR_012798 + Q9HCC0:p.Arg268Thr chr5 70966525 70966526 VAR_012798 + Q9HCC0:p.Arg268Thr chr5 70966757 70966760 VAR_012799 + Q9HCC0:p.Pro310Arg chr5 70972600 70972603 VAR_012800 + Q9HCC0:p.Val339Met chr5 70980771 70980774 VAR_012801 + Q9HCC0:p.Ile437Val chr5 70981709 70981712 VAR_038630 + Q9HCC0:p.Ala478Gly chr6 31604893 31604896 VAR_017161 + P59942:p.Glu42Lys chr6 31604926 31604929 VAR_017163 + P59942:p.Thr53Met chr19 7649820 7649823 VAR_030180 + Q8IX19:p.Ile167Val chr2 47044306 47044309 VAR_019076 - Q8NI22:p.Asp129Glu chr2 47044285 47044288 VAR_019077 - Q8NI22:p.Ile136Thr chr22 39400021 39400024 VAR_026652 + Q99705:p.Thr25Met chr22 39400030 39400033 VAR_026653 + Q99705:p.Asp28Val chr22 39400042 39400045 VAR_016221 + Q99705:p.Asn32Asp chr22 39400048 39400051 VAR_026654 + Q99705:p.Gly34Arg chr22 39401790 39401793 VAR_026655 + Q99705:p.Arg210His chr22 39401910 39401913 VAR_026656 + Q99705:p.Tyr250His chr22 39402075 39402078 VAR_026657 + Q99705:p.Thr305Met chr22 39402111 39402114 VAR_026658 + Q99705:p.Arg317Gln chr22 39402291 39402294 VAR_026659 + Q99705:p.Pro377Ser chr22 39402393 39402396 VAR_026660 + Q99705:p.Thr411Met chr6 100502561 100502564 VAR_026661 - Q969V1:p.Arg63Lys chr6 100497676 100497679 VAR_026662 - Q969V1:p.Arg152Gln chr1 147364560 147364563 VAR_024021 - Q07820:p.Glu173Asp chr1 147364398 147364401 VAR_024022 - Q07820:p.Ala227Val chr19 7497402 7497405 VAR_019369 + Q9GZU1:p.Leu106Pro chr19 7498762 7498765 VAR_019370 + Q9GZU1:p.Thr232Pro chr19 7499712 7499715 VAR_036453 + Q9GZU1:p.Val331Leu chr19 7499805 7499808 VAR_019371 + Q9GZU1:p.Asp362Tyr chr19 7500058 7500061 VAR_038380 + Q9GZU1:p.Arg403Cys chr19 7500073 7500076 VAR_019372 + Q9GZU1:p.408del chr19 7500574 7500577 VAR_019373 + Q9GZU1:p.Val446Leu chr19 7500577 7500580 VAR_019374 + Q9GZU1:p.Leu447Pro chr19 7501204 7501207 VAR_019375 + Q9GZU1:p.Phe465Leu chr3 128801053 128801056 VAR_021111 + P49736:p.Asp68Glu chr3 128806314 128806317 VAR_021112 + P49736:p.Leu135Phe chr3 128806519 128806522 VAR_033298 + P49736:p.Glu166Gln chr3 128810006 128810009 VAR_016137 + P49736:p.Ala396Thr chr3 128817474 128817477 VAR_033299 + P49736:p.Gly501Arg chr3 128819607 128819610 VAR_016138 + P49736:p.Val667Met chr3 128820732 128820735 VAR_016139 + P49736:p.Ala727Thr chr21 46529322 46529325 VAR_019240 - O60318:p.Ser102Leu chr21 46528764 46528767 VAR_019241 - O60318:p.Met288Val chr21 46528629 46528632 VAR_019242 - O60318:p.Arg333Leu chr21 46528172 46528175 VAR_035472 - O60318:p.Leu409Val chr21 46528160 46528163 VAR_019243 - O60318:p.Pro413Leu chr21 46509743 46509746 VAR_019244 - O60318:p.Pro1051Leu chr21 46509710 46509713 VAR_019245 - O60318:p.Val1062Met chr21 46499176 46499179 VAR_019246 - O60318:p.Arg1314Trp chr21 46491171 46491174 VAR_019247 - O60318:p.Asp1449Glu chr21 46489458 46489461 VAR_019248 - O60318:p.Val1576Ile chr21 46487184 46487187 VAR_019249 - O60318:p.Ala1795Thr chr21 46485175 46485178 VAR_019250 - O60318:p.Leu1870Arg chr21 46479729 46479732 VAR_019251 - O60318:p.Ala1941Val chr6 52255494 52255497 VAR_014810 - P25205:p.Ser105Gly chr6 52251537 52251540 VAR_014811 - P25205:p.Asp280Val chr6 52251516 52251519 VAR_014812 - P25205:p.Phe287Leu chr6 52245114 52245117 VAR_020516 - P25205:p.Ile590Leu chr6 52237449 52237452 VAR_020517 - P25205:p.Arg774Trp chr6 52237440 52237443 VAR_020427 - P25205:p.Glu777Lys chr8 49045113 49045116 VAR_020500 + P33991:p.Glu460Gly chr8 49047988 49047991 VAR_020501 + P33991:p.Leu650Met chr22 34131438 34131441 VAR_014815 + P33992:p.Val258Ile chr2 136467562 136467565 VAR_014816 - Q14566:p.Glu35Val chr2 136432184 136432187 VAR_016340 - Q14566:p.Glu806Lys chr7 99335576 99335579 VAR_014817 - P33993:p.Gly473Ser chr20 5881107 5881110 VAR_015145 + Q9UJA3:p.Gln63Lys chr1 204313988 204313991 VAR_026567 + P15529:p.Ser13Phe chr1 204318830 204318833 VAR_026568 + P15529:p.Arg59Gln chr1 204323005 204323008 VAR_026569 + P15529:p.Pro165Ser chr1 204328760 204328763 VAR_035828 + P15529:p.Cys228Tyr chr1 204328796 204328799 VAR_026570 + P15529:p.Ser240Pro chr1 204328874 204328877 VAR_022262 + P15529:p.Asp266Asn chr1 204328889 204328895 VAR_026571 + P15529:p.271_272del chr1 204332083 204332086 VAR_022263 + P15529:p.Pro324Leu chr1 204346839 204346842 VAR_022264 + P15529:p.Ala353Val chr1 204346845 204346846 VAR_022265 + P15529:p.Val355Gly chr1 204347358 204347360 VAR_022265 + P15529:p.Val355Gly chr12 48238758 48238761 VAR_035473 - Q96EZ8:p.Val441Ile chr4 149715596 149715599 VAR_036063 - P08235:p.His7Gln chr4 149714285 149714288 VAR_014624 - P08235:p.Asn444Thr chr4 149714006 149714009 VAR_014625 - P08235:p.Arg537Gln chr4 149713955 149713958 VAR_014626 - P08235:p.Asn554Ser chr4 149473616 149473618 VAR_031268 - P08235:p.Gly633Arg chr4 149538734 149538735 VAR_031268 - P08235:p.Gly633Arg chr4 149473580 149473583 VAR_031269 - P08235:p.Cys645Ser chr4 149473538 149473541 VAR_031270 - P08235:p.Arg659Ser chr4 149433394 149433397 VAR_031271 - P08235:p.Pro759Ser chr4 149433364 149433367 VAR_031272 - P08235:p.Leu769Pro chr4 149433361 149433364 VAR_031273 - P08235:p.Asn770Lys chr4 149433343 149433346 VAR_031274 - P08235:p.Gln776Arg chr4 149431319 149431322 VAR_031275 - P08235:p.Ser805Pro chr4 149431304 149431307 VAR_015626 - P08235:p.Ser810Leu chr4 149431289 149431292 VAR_031276 - P08235:p.Ser815Arg chr4 149431280 149431283 VAR_031277 - P08235:p.Ser818Leu chr4 149431256 149431259 VAR_029311 - P08235:p.Phe826Tyr chr4 149392886 149392889 VAR_015627 - P08235:p.Leu924Pro chr4 149360138 149360141 VAR_031278 - P08235:p.Glu972Gly chr4 149360117 149360120 VAR_031279 - P08235:p.Leu979Pro chr5 94256112 94256115 VAR_033189 - Q6DN14:p.Arg612Lys chr15 92823258 92823261 VAR_033190 + Q6DN12:p.Ala877Thr chr3 152364470 152364473 VAR_037647 + Q86YW9:p.Gln401Pro chr3 152366362 152366365 VAR_037648 + Q86YW9:p.Glu464Lys chr3 152557848 152557851 VAR_037649 + Q86YW9:p.Gln903His chr3 152573120 152573123 VAR_037650 + Q86YW9:p.Arg1210Gln chr3 152588403 152588406 VAR_037651 + Q86YW9:p.Arg1698Gln chr12 114920369 114920372 VAR_024024 - Q71F56:p.Glu251Gly chr12 114875810 114875813 VAR_024025 - Q71F56:p.Arg1872His chr7 2042922 2042925 VAR_019707 - Q9Y6D9:p.Ser29Leu chr7 2038399 2038402 VAR_019708 - Q9Y6D9:p.Arg59Cys chr7 2032323 2032326 VAR_019709 - Q9Y6D9:p.Asn160Ser chr7 2028787 2028790 VAR_019710 - Q9Y6D9:p.Thr299Ala chr7 1882207 1882210 VAR_019711 - Q9Y6D9:p.Arg360Gln chr7 1793333 1793336 VAR_019712 - Q9Y6D9:p.Thr500Met chr7 1770567 1770570 VAR_019713 - Q9Y6D9:p.Glu511Lys chr7 1770552 1770555 VAR_019714 - Q9Y6D9:p.Glu516Lys chr7 1749702 1749705 VAR_019715 - Q9Y6D9:p.Arg556Cys chr7 1749702 1749705 VAR_019716 - Q9Y6D9:p.Arg556His chr7 1749696 1749699 VAR_019717 - Q9Y6D9:p.Arg558His chr7 1749663 1749666 VAR_019718 - Q9Y6D9:p.Glu569Lys chr7 1749654 1749657 VAR_019719 - Q9Y6D9:p.Arg572His chr6 30788944 30788947 VAR_022843 - Q14676:p.Glu251Lys chr6 30788584 30788587 VAR_022845 - Q14676:p.Glu371Lys chr6 30788089 30788092 VAR_043922 - Q14676:p.Ile536Met chr6 30787939 30787942 VAR_022846 - Q14676:p.Ser586Ala chr6 30780411 30780414 VAR_022847 - Q14676:p.Glu1509Asp chr6 30780318 30780321 VAR_022848 - Q14676:p.Ser1540Pro chr6 30780303 30780306 VAR_043923 - Q14676:p.Gln1545Arg chr12 67006892 67006895 VAR_034782 - Q8TC05:p.Thr103Ile chr12 66996156 66996159 VAR_034783 - Q8TC05:p.Val383Ile chr12 66995026 66995029 VAR_034784 - Q8TC05:p.Arg489His chr12 66993552 66993555 VAR_034785 - Q8TC05:p.Pro552Leu chr1 201243579 201243582 VAR_017106 + O15151:p.Ile175Thr chr1 201250209 201250212 VAR_017107 + O15151:p.Thr406Ile chr6 90554307 90554310 VAR_024234 - Q9NU22:p.Phe440Val chr6 90504811 90504814 VAR_024235 - Q9NU22:p.Ser1559Asn chr6 90447161 90447164 VAR_024236 - Q9NU22:p.Ala4044Ser chr7 86874100 86874103 VAR_022276 - P08183:p.Phe17Leu chr7 86874088 86874091 VAR_014704 - P08183:p.Asn21Asp chr7 86844167 86844170 VAR_015001 - P08183:p.Phe103Leu chr7 86844152 86844155 VAR_018351 - P08183:p.Glu108Lys chr7 86840183 86840186 VAR_015002 - P08183:p.Gly185Val chr7 86824458 86824461 VAR_015003 - P08183:p.Ser400Asn chr7 86823341 86823344 VAR_022277 - P08183:p.Glu566Lys chr7 86819937 86819940 VAR_022278 - P08183:p.Arg593Cys chr7 86805437 86805440 VAR_022279 - P08183:p.Ile836Val chr7 86805284 86805287 VAR_035737 - P08183:p.Lys887Asn chr7 86790601 86790604 VAR_018352 - P08183:p.Met986Val chr7 86790562 86790565 VAR_015004 - P08183:p.Ala999Thr chr7 86789326 86789329 VAR_022280 - P08183:p.Pro1051Ala chr7 86783409 86783412 VAR_015005 - P08183:p.Gln1107Pro chr7 86783307 86783310 VAR_022281 - P08183:p.Ser1141Thr chr7 86778299 86778302 VAR_018353 - P08183:p.Val1251Ile chr7 86736749 86736752 VAR_043078 - P21439:p.Asp87Glu chr7 86736725 86736728 VAR_043079 - P21439:p.Pro95Ser chr7 86727032 86727035 VAR_043080 - P21439:p.Trp138Arg chr7 86726996 86726999 VAR_043081 - P21439:p.Arg150Lys chr7 86726951 86726954 VAR_043082 - P21439:p.Phe165Ile chr7 86726921 86726924 VAR_023501 - P21439:p.Thr175Ala chr7 86724053 86724056 VAR_020223 - P21439:p.Leu238Val chr7 86723978 86723981 VAR_030763 - P21439:p.Ile263Val chr7 86721102 86721105 VAR_043083 - P21439:p.Met301Thr chr7 86721045 86721048 VAR_023502 - P21439:p.Ser320Phe chr7 86718909 86718912 VAR_043084 - P21439:p.Ser346Ile chr7 86718846 86718849 VAR_043085 - P21439:p.Ile367Val chr7 86717674 86717677 VAR_043086 - P21439:p.Glu395Gly chr7 86717369 86717372 VAR_043087 - P21439:p.Thr424Ala chr7 86717366 86717369 VAR_043088 - P21439:p.Val425Met chr7 86717291 86717294 VAR_043089 - P21439:p.Glu450Gly chr7 86713780 86713783 VAR_043090 - P21439:p.Glu528Asp chr7 86713759 86713762 VAR_043091 - P21439:p.Gly535Asp chr7 86713741 86713744 VAR_043092 - P21439:p.Ile541Phe chr7 86713726 86713729 VAR_023503 - P21439:p.Ala546Asp chr7 86713696 86713699 VAR_043093 - P21439:p.Leu556Arg chr7 86713672 86713675 VAR_043094 - P21439:p.Asp564Gly chr7 86705493 86705496 VAR_043095 - P21439:p.Arg590Gln chr7 86705490 86705493 VAR_043096 - P21439:p.Leu591Gln chr7 86700827 86700830 VAR_030765 - P21439:p.Thr651Asn chr7 86700824 86700827 VAR_020225 - P21439:p.Arg652Gly chr7 86697950 86697953 VAR_043097 - P21439:p.Phe711Ser chr7 86696177 86696180 VAR_043098 - P21439:p.Gly742Ser chr7 86696117 86696120 VAR_043099 - P21439:p.Gly762Glu chr7 86696111 86696114 VAR_043100 - P21439:p.Ile764Leu chr7 86694033 86694036 VAR_043101 - P21439:p.Thr775Met chr7 86693994 86693997 VAR_024359 - P21439:p.Arg788Gln chr7 86677110 86677113 VAR_043105 - P21439:p.1161del chrX 152818851 152818854 VAR_018180 - P51608:p.Glu10Gln chrX 152818623 152818626 VAR_018181 - P51608:p.Ser86Cys chrX 152818590 152818593 VAR_023552 - P51608:p.Asp97Glu chrX 152818590 152818593 VAR_018182 - P51608:p.Asp97Tyr chrX 152818581 152818584 VAR_023553 - P51608:p.Leu100Arg chrX 152818581 152818584 VAR_017462 - P51608:p.Leu100Val chrX 152818578 152818581 VAR_018183 - P51608:p.Pro101His chrX 152818578 152818581 VAR_018184 - P51608:p.Pro101Leu chrX 152818578 152818581 VAR_010276 - P51608:p.Pro101Arg chrX 152818578 152818581 VAR_023554 - P51608:p.Pro101Ser chrX 152818578 152818581 VAR_018185 - P51608:p.Pro101Thr chrX 152818563 152818566 VAR_018186 - P51608:p.Arg106Gln chrX 152818563 152818566 VAR_010272 - P51608:p.Arg106Trp chrX 152818548 152818551 VAR_018187 - P51608:p.Arg111Gly chrX 152818521 152818524 VAR_023555 - P51608:p.Tyr120Asp chrX 152818509 152818512 VAR_010277 - P51608:p.Leu124Phe chrX 152817741 152817744 VAR_018188 - P51608:p.Gln128Pro chrX 152817726 152817729 VAR_010273 - P51608:p.Arg133Cys chrX 152817726 152817729 VAR_018189 - P51608:p.Arg133His chrX 152817723 152817726 VAR_010278 - P51608:p.Ser134Cys chrX 152817720 152817723 VAR_018190 - P51608:p.Lys135Glu chrX 152817714 152817717 VAR_017581 - P51608:p.Glu137Gly chrX 152817705 152817708 VAR_010279 - P51608:p.Ala140Val chrX 152817669 152817672 VAR_010280 - P51608:p.Pro152Arg chrX 152817660 152817663 VAR_023556 - P51608:p.Phe155Ile chrX 152817660 152817663 VAR_010274 - P51608:p.Phe155Ser chrX 152817657 152817660 VAR_018191 - P51608:p.Asp156Gly chrX 152817651 152817654 VAR_023557 - P51608:p.Thr158Ala chrX 152817651 152817654 VAR_010275 - P51608:p.Thr158Met chrX 152817642 152817645 VAR_023558 - P51608:p.Gly161Val chrX 152817624 152817627 VAR_018192 - P51608:p.Arg167Trp chrX 152817582 152817585 VAR_018193 - P51608:p.Ala181Val chrX 152817537 152817540 VAR_018194 - P51608:p.Thr196Ser chrX 152817534 152817537 VAR_018195 - P51608:p.Thr197Met chrX 152817522 152817525 VAR_010281 - P51608:p.Ala201Val chrX 152817516 152817519 VAR_018196 - P51608:p.Thr203Met chrX 152817495 152817498 VAR_018197 - P51608:p.Lys210Ile chrX 152817450 152817453 VAR_037664 - P51608:p.Pro225Leu chrX 152817450 152817453 VAR_018198 - P51608:p.Pro225Arg chrX 152817441 152817444 VAR_018199 - P51608:p.Thr228Ser chrX 152817438 152817441 VAR_018200 - P51608:p.Ser229Leu chrX 152817429 152817432 VAR_018201 - P51608:p.Gly232Ala chrX 152817372 152817375 VAR_018202 - P51608:p.Pro251Leu chrX 152817273 152817276 VAR_018203 - P51608:p.Lys284Glu chrX 152817264 152817267 VAR_018204 - P51608:p.Ala287Pro chrX 152817252 152817255 VAR_018205 - P51608:p.Ser291Ala chrX 152817219 152817222 VAR_018206 - P51608:p.Pro302Ala chrX 152817219 152817222 VAR_018207 - P51608:p.Pro302His chrX 152817219 152817222 VAR_018208 - P51608:p.Pro302Leu chrX 152817219 152817222 VAR_018209 - P51608:p.Pro302Arg chrX 152817210 152817213 VAR_018210 - P51608:p.Lys305Arg chrX 152817207 152817210 VAR_010282 - P51608:p.Arg306Cys chrX 152817207 152817210 VAR_018211 - P51608:p.Arg306His chrX 152817159 152817162 VAR_018212 - P51608:p.Pro322Ala chrX 152817159 152817162 VAR_018213 - P51608:p.Pro322Leu chrX 152817159 152817162 VAR_037665 - P51608:p.Pro322Ser chrX 152817093 152817096 VAR_018214 - P51608:p.Arg344Trp chrX 152817048 152817051 VAR_018215 - P51608:p.Ser359Pro chrX 152816997 152817000 VAR_018216 - P51608:p.Pro376Ser chrX 152816961 152816964 VAR_023559 - P51608:p.Pro388Leu chrX 152816961 152816964 VAR_018218 - P51608:p.Pro388Ser chrX 152816961 152816964 VAR_018217 - P51608:p.388del chrX 152816943 152816946 VAR_018219 - P51608:p.Glu394Lys chrX 152816934 152816937 VAR_010283 - P51608:p.Glu397Lys chrX 152816928 152816931 VAR_018220 - P51608:p.Pro399Leu chrX 152816919 152816922 VAR_018221 - P51608:p.Pro402Leu chrX 152816889 152816892 VAR_018222 - P51608:p.Val412Ile chrX 152816841 152816844 VAR_017463 - P51608:p.Gly428Ser chrX 152816808 152816811 VAR_018223 - P51608:p.Ala439Thr chrX 152816793 152816796 VAR_018224 - P51608:p.Ala444Thr chrX 152816766 152816769 VAR_018225 - P51608:p.Arg453Gln chrX 152816685 152816688 VAR_018226 - P51608:p.Pro480Ser chr22 19245397 19245403 VAR_013136 + Q96RN5:p.261_262del chr17 34818279 34818282 VAR_034938 - Q15648:p.Ser1240Gly chr15 98048078 98048081 VAR_038407 + Q02078:p.Asn263Ser chr15 98048126 98048129 VAR_038408 + Q02078:p.Pro279Leu chr15 98048138 98048141 VAR_038409 + Q02078:p.Gly283Asp chr15 98070292 98070313 VAR_017743 + Q02078:p.440_446del chr1 153251109 153251112 VAR_022155 - Q14814:p.Pro434Ser chr16 3246462 3246465 VAR_028326 - O15553:p.Arg42Trp chr16 3244744 3244747 VAR_028327 - O15553:p.Ser108Arg chr16 3244738 3244741 VAR_016824 - O15553:p.Leu110Pro chr16 3244654 3244657 VAR_016825 - O15553:p.Gly138Ala chr16 3244624 3244627 VAR_009051 - O15553:p.Glu148Gln chr16 3244624 3244627 VAR_028328 - O15553:p.Glu148Val chr16 3244579 3244582 VAR_028329 - O15553:p.Glu163Ala chr16 3244567 3244570 VAR_009052 - O15553:p.Glu167Asp chr16 3244537 3244540 VAR_028330 - O15553:p.Thr177Ile chr16 3244462 3244465 VAR_009053 - O15553:p.Arg202Gln chr16 3244378 3244381 VAR_016826 - O15553:p.Glu230Lys chr16 3244267 3244270 VAR_009054 - O15553:p.Thr267Ile chr16 3239734 3239737 VAR_028331 - O15553:p.Glu319Lys chr16 3239584 3239587 VAR_009055 - O15553:p.Pro369Ser chr16 3239467 3239470 VAR_009056 - O15553:p.Arg408Gln chr16 3238945 3238948 VAR_024376 - O15553:p.Gln440Glu chr16 3237181 3237184 VAR_028332 - O15553:p.Glu474Lys chr16 3237169 3237172 VAR_028333 - O15553:p.His478Tyr chr16 3237166 3237169 VAR_009057 - O15553:p.Phe479Leu chr16 3234258 3234261 VAR_028334 - O15553:p.Phe585Leu chr16 3233879 3233882 VAR_016827 - O15553:p.Ile591Thr chr16 3233591 3233594 VAR_028335 - O15553:p.Gly632Ser chr16 3233567 3233570 VAR_028336 - O15553:p.Ile640Met chr16 3233564 3233567 VAR_028337 - O15553:p.Ile641Phe chr16 3233549 3233552 VAR_028338 - O15553:p.Pro646Leu chr16 3233540 3233543 VAR_028339 - O15553:p.Leu649Pro chr16 3233528 3233531 VAR_016828 - O15553:p.Arg653His chr16 3233519 3233522 VAR_028340 - O15553:p.Glu656Ala chr16 3233504 3233507 VAR_028341 - O15553:p.Asp661Asn chr16 3233462 3233465 VAR_016829 - O15553:p.Ser675Asn chr16 3233453 3233456 VAR_028342 - O15553:p.Gly678Glu chr16 3233447 3233450 VAR_028343 - O15553:p.Met680Ile chr16 3233447 3233450 VAR_016830 - O15553:p.Met680Leu chr16 3233444 3233447 VAR_009059 - O15553:p.Thr681Ile chr16 3233423 3233426 VAR_028344 - O15553:p.Tyr688Cys chr16 3233411 3233414 VAR_009060 - O15553:p.692del chr16 3233405 3233408 VAR_009061 - O15553:p.Met694Ile chr16 3233405 3233408 VAR_028345 - O15553:p.Met694Leu chr16 3233405 3233408 VAR_009062 - O15553:p.Met694Val chr16 3233405 3233408 VAR_009063 - O15553:p.694del chr16 3233402 3233405 VAR_028346 - O15553:p.Lys695Met chr16 3233402 3233405 VAR_009064 - O15553:p.Lys695Arg chr16 3233381 3233384 VAR_028347 - O15553:p.Ser702Cys chr16 3233375 3233378 VAR_028348 - O15553:p.Val704Ile chr16 3233372 3233375 VAR_028349 - O15553:p.Pro705Ser chr16 3233327 3233330 VAR_028350 - O15553:p.Ile720Met chr16 3233309 3233312 VAR_009065 - O15553:p.Val726Ala chr16 3233258 3233261 VAR_028351 - O15553:p.Phe743Leu chr16 3233255 3233258 VAR_009066 - O15553:p.Ala744Ser chr16 3233213 3233216 VAR_028352 - O15553:p.Pro758Ser chr16 3233204 3233207 VAR_009067 - O15553:p.Arg761His chr16 3233147 3233150 VAR_028353 - O15553:p.Pro780Thr chr5 126760325 126760328 VAR_036988 + Q96KG7:p.Val206Ile chr5 126819179 126819182 VAR_036989 + Q96KG7:p.Arg1072Lys chr2 238184171 238184174 VAR_018724 + Q9BV36:p.Arg35Trp chr2 238201713 238201716 VAR_015690 + Q9BV36:p.Arg139Trp chr2 238209192 238209195 VAR_015691 + Q9BV36:p.Leu153Pro chr2 238209222 238209225 VAR_015692 + Q9BV36:p.Asp163Asn chr2 238209249 238209252 VAR_015693 + Q9BV36:p.Gly172Asp chr2 238216432 238216435 VAR_038410 + Q9BV36:p.Thr289Ile chr2 238225224 238225227 VAR_015694 + Q9BV36:p.His347Arg chr2 238231005 238231008 VAR_015695 + Q9BV36:p.Val374Ala chr3 158628884 158628887 VAR_034692 - Q14D04:p.Ser208Cys chr3 158614488 158614491 VAR_034693 - Q14D04:p.Val263Gly chr3 158614464 158614467 VAR_034694 - Q14D04:p.Ser271Cys chr3 158581816 158581819 VAR_034695 - Q14D04:p.Met319Val chr3 158581786 158581789 VAR_034696 - Q14D04:p.Leu329Val chr3 158581678 158581681 VAR_034697 - Q14D04:p.Arg365Gln chr3 158564023 158564026 VAR_034698 - Q14D04:p.Ser522Pro chr11 64334121 64334124 VAR_005425 - O00255:p.Pro12Leu chr11 64334091 64334094 VAR_005426 - O00255:p.Leu22Arg chr11 64334079 64334082 VAR_005427 - O00255:p.Glu26Lys chr11 64334040 64334043 VAR_005428 - O00255:p.Leu39Trp chr11 64334031 64334034 VAR_005429 - O00255:p.Gly42Asp chr11 64334022 64334025 VAR_005430 - O00255:p.Glu45Gly chr11 64334022 64334025 VAR_039587 - O00255:p.Glu45Lys chr11 64333863 64333866 VAR_039588 - O00255:p.Arg98Leu chr11 64333827 64333830 VAR_039589 - O00255:p.Gly110Glu chr11 64333800 64333803 VAR_005431 - O00255:p.119del chr11 64333752 64333755 VAR_005434 - O00255:p.Lys135Ile chr11 64333740 64333743 VAR_005432 - O00255:p.His139Asp chr11 64333740 64333743 VAR_039590 - O00255:p.His139Pro chr11 64333740 64333743 VAR_039591 - O00255:p.His139Arg chr11 64333740 64333743 VAR_005433 - O00255:p.His139Tyr chr11 64333725 64333728 VAR_005436 - O00255:p.Phe144Val chr11 64332133 64332136 VAR_039592 - O00255:p.Asp158Val chr11 64332130 64332133 VAR_039593 - O00255:p.Ser159Ile chr11 64332127 64332130 VAR_039594 - O00255:p.Ser160Phe chr11 64332124 64332127 VAR_008017 - O00255:p.Gly161Asp chr11 64332112 64332115 VAR_005437 - O00255:p.Ala165Pro chr11 64332112 64332115 VAR_039595 - O00255:p.Ala165Thr chr11 64332106 64332109 VAR_039596 - O00255:p.Val167Phe chr11 64332100 64332103 VAR_005438 - O00255:p.Ala169Asp chr11 64332097 64332100 VAR_039597 - O00255:p.Cys170Arg chr11 64332088 64332097 VAR_005439 - O00255:p.171_173del chr11 64332088 64332091 VAR_039598 - O00255:p.Leu173Pro chr11 64332079 64332082 VAR_005440 - O00255:p.Arg176Gln chr11 64332076 64332079 VAR_005441 - O00255:p.Asp177Tyr chr11 64332064 64332067 VAR_005442 - O00255:p.Ala181Pro chr11 64332055 64332058 VAR_005443 - O00255:p.Glu184Asp chr11 64332055 64332058 VAR_039599 - O00255:p.Glu184Lys chr11 64332055 64332058 VAR_039600 - O00255:p.Glu184Gln chr11 64332049 64332052 VAR_039601 - O00255:p.His186Arg chr11 64332043 64332046 VAR_039602 - O00255:p.Trp188Arg chr11 64332043 64332046 VAR_005444 - O00255:p.Trp188Ser chr11 64332040 64332043 VAR_005445 - O00255:p.Val189Glu chr11 64331947 64331950 VAR_039603 - O00255:p.Val220Met chr11 64331713 64331716 VAR_005446 - O00255:p.Leu228Pro chr11 64331707 64331710 VAR_039604 - O00255:p.Gly230Arg chr11 64331695 64331698 VAR_039605 - O00255:p.Arg234Leu chr11 64331662 64331665 VAR_039606 - O00255:p.Val245Phe chr11 64331659 64331662 VAR_039607 - O00255:p.Cys246Phe chr11 64331659 64331662 VAR_008018 - O00255:p.Cys246Arg chr11 64331659 64331662 VAR_039608 - O00255:p.Cys246Tyr chr11 64331656 64331659 VAR_005447 - O00255:p.Ala247Val chr11 64331623 64331626 VAR_039609 - O00255:p.Ser258Pro chr11 64331623 64331626 VAR_039610 - O00255:p.Ser258Trp chr11 64331617 64331620 VAR_005448 - O00255:p.Glu260Lys chr11 64331605 64331608 VAR_039611 - O00255:p.Leu264Arg chr11 64331602 64331605 VAR_039612 - O00255:p.Gln265Pro chr11 64331599 64331602 VAR_039613 - O00255:p.Gln266Gln chr11 64331258 64331261 VAR_005449 - O00255:p.Leu269Pro chr11 64331249 64331252 VAR_005450 - O00255:p.Leu272Pro chr11 64331228 64331231 VAR_039614 - O00255:p.Glu279Ala chr11 64331139 64331142 VAR_039615 - O00255:p.Pro282His chr11 64331127 64331130 VAR_039616 - O00255:p.Gly286Arg chr11 64331118 64331121 VAR_005451 - O00255:p.Ala289Glu chr11 64331118 64331121 VAR_039617 - O00255:p.Ala289Pro chr11 64331112 64331115 VAR_005452 - O00255:p.Leu291Pro chr11 64330413 64330416 VAR_039618 - O00255:p.Gly310Asp chr11 64330401 64330404 VAR_005453 - O00255:p.Ala314Pro chr11 64330395 64330398 VAR_039619 - O00255:p.Thr316Pro chr11 64330386 64330389 VAR_005454 - O00255:p.Arg319Pro chr11 64330377 64330380 VAR_039620 - O00255:p.His322Arg chr11 64330377 64330380 VAR_039621 - O00255:p.His322Tyr chr11 64330368 64330371 VAR_039622 - O00255:p.Pro325Leu chr11 64330368 64330371 VAR_039623 - O00255:p.Pro325Arg chr11 64330353 64330356 VAR_039624 - O00255:p.Ala330Pro chr11 64330317 64330320 VAR_005455 - O00255:p.Ala342Asp chr11 64330317 64330320 VAR_039625 - O00255:p.Ala342Pro chr11 64330305 64330308 VAR_005456 - O00255:p.Trp346Arg chr11 64330302 64330305 VAR_039626 - O00255:p.Ala347Pro chr11 64330296 64330299 VAR_005457 - O00255:p.Thr349Arg chr11 64330284 64330287 VAR_039627 - O00255:p.Ile353Asn chr11 64329808 64329811 VAR_039628 - O00255:p.Tyr358Asp chr11 64329802 64329805 VAR_039629 - O00255:p.Arg360Trp chr11 64329796 64329799 VAR_039630 - O00255:p.Asp362His chr11 64329790 64329793 VAR_005458 - O00255:p.Glu364Lys chr11 64329778 64329781 VAR_005459 - O00255:p.368del chr11 64329763 64329766 VAR_005460 - O00255:p.Ala373Asp chr11 64329751 64329754 VAR_039631 - O00255:p.Ile377Met chr11 64329748 64329751 VAR_039632 - O00255:p.Pro378Ser chr11 64329712 64329715 VAR_039633 - O00255:p.Ala390Val chr11 64329198 64329201 VAR_039634 - O00255:p.Ala416Pro chr11 64329189 64329192 VAR_039635 - O00255:p.Leu419Pro chr11 64329186 64329189 VAR_039636 - O00255:p.Arg420Pro chr11 64329168 64329180 VAR_005463 - O00255:p.423_426del chr11 64329177 64329180 VAR_039637 - O00255:p.Asp423His chr11 64329177 64329180 VAR_005461 - O00255:p.Asp423Asn chr11 64329177 64329180 VAR_005462 - O00255:p.423del chr11 64329168 64329171 VAR_039638 - O00255:p.Cys426Tyr chr11 64329162 64329165 VAR_039639 - O00255:p.Trp428Ser chr11 64329150 64329153 VAR_039640 - O00255:p.Ser432Arg chr11 64329123 64329126 VAR_039641 - O00255:p.Trp441Cys chr11 64329123 64329126 VAR_005464 - O00255:p.Trp441Arg chr11 64329099 64329102 VAR_039642 - O00255:p.Leu449Pro chr11 64329090 64329093 VAR_005465 - O00255:p.Phe452Ser chr11 64328633 64328636 VAR_039643 - O00255:p.Arg532Cys chr11 64328594 64328597 VAR_039644 - O00255:p.Pro545Ser chr11 64328582 64328585 VAR_039645 - O00255:p.Pro549Ser chr11 64328558 64328561 VAR_039646 - O00255:p.Thr557Ser chr11 64328549 64328552 VAR_005467 - O00255:p.Ser560Asn chr11 64328549 64328552 VAR_039647 - O00255:p.Ser560Arg chr7 15499027 15499033 VAR_026040 - P50222:p.79_80del chr7 15499027 15499030 VAR_026041 - P50222:p.80del chr4 89124186 89124189 VAR_034094 + Q9NQ76:p.Val330Ile chr22 28357314 28357317 VAR_000809 + P35240:p.Leu46Arg chr22 28357362 28357365 VAR_000810 + P35240:p.Phe62Ser chr22 28357407 28357410 VAR_043011 + P35240:p.Met77Val chr22 28357413 28357416 VAR_000811 + P35240:p.Lys79Glu chr22 28359677 28359680 VAR_000812 + P35240:p.96del chr22 28359707 28359710 VAR_000813 + P35240:p.Glu106Gly chr22 28359740 28359743 VAR_000814 + P35240:p.Leu117Ile chr22 28359746 28359749 VAR_000815 + P35240:p.119del chr22 28362744 28362768 VAR_000816 + P35240:p.122_129del chr22 28362801 28362804 VAR_043012 + P35240:p.Leu141Pro chr22 28376208 28376211 VAR_043013 + P35240:p.Gly197Cys chr22 28378786 28378789 VAR_000817 + P35240:p.Val219Met chr22 28378789 28378792 VAR_000818 + P35240:p.Asn220Tyr chr22 28381771 28381774 VAR_009123 + P35240:p.Leu234Arg chr22 28385538 28385541 VAR_000819 + P35240:p.Ile273Phe chr22 28392383 28392386 VAR_000820 + P35240:p.Leu339Phe chr22 28392419 28392422 VAR_029041 + P35240:p.Arg351His chr22 28392422 28392425 VAR_000821 + P35240:p.Thr352Met chr22 28392446 28392449 VAR_000822 + P35240:p.Leu360Pro chr22 28392458 28392461 VAR_000823 + P35240:p.Lys364Ile chr22 28393925 28393928 VAR_043014 + P35240:p.Lys413Glu chr22 28393940 28393943 VAR_000824 + P35240:p.Arg418Cys chr22 28395424 28395427 VAR_035848 + P35240:p.Glu463Lys chr22 28402003 28402006 VAR_043015 + P35240:p.Lys533Thr chr22 28402009 28402012 VAR_000825 + P35240:p.Leu535Pro chr22 28402018 28402021 VAR_000826 + P35240:p.Gln538Pro chr22 28402021 28402024 VAR_043016 + P35240:p.Leu539His chr22 28402141 28402144 VAR_043017 + P35240:p.Lys579Met chr2 112372600 112372603 VAR_021039 + Q12866:p.Arg20Ser chr2 112403217 112403220 VAR_021040 + Q12866:p.Ser118Asn chr2 112418837 112418840 VAR_041741 + Q12866:p.Val185Met chr2 112439084 112439085 VAR_021041 + Q12866:p.Ala282Thr chr2 112441944 112441946 VAR_021041 + Q12866:p.Ala282Thr chr2 112441964 112441967 VAR_041742 + Q12866:p.Glu289Lys chr2 112441976 112441979 VAR_021042 + Q12866:p.Arg293His chr2 112468097 112468100 VAR_041743 + Q12866:p.Ala446Gly chr2 112468115 112468118 VAR_041744 + Q12866:p.Val452Leu chr2 112468157 112468160 VAR_021043 + Q12866:p.Arg466Lys chr2 112471171 112471174 VAR_021044 + Q12866:p.Asn498Ser chr2 112471231 112471234 VAR_021045 + Q12866:p.Ile518Val chr2 112475021 112475024 VAR_021046 + Q12866:p.Glu540Lys chr2 112483775 112483778 VAR_021047 + Q12866:p.Ser661Cys chr2 112483778 112483781 VAR_041745 + Q12866:p.Gln662Glu chr2 112493262 112493265 VAR_041746 + Q12866:p.Ala708Ser chr2 112496182 112496185 VAR_041747 + Q12866:p.Glu823Gln chr2 112502264 112502267 VAR_020285 + Q12866:p.Arg865Trp chr2 112502279 112502282 VAR_029237 + Q12866:p.Val870Ile chr2 112502282 112502285 VAR_021048 + Q12866:p.Ile871Thr chr2 112502282 112502285 VAR_021049 + Q12866:p.Ile871Val chr15 88095307 88095310 VAR_035021 - Q9BRJ9:p.Ala53Pro chr10 82035302 82035305 VAR_031242 - Q00266:p.Ser38Asn chr10 82035251 82035254 VAR_006935 - Q00266:p.Ala55Asp chr10 82030463 82030466 VAR_028944 - Q00266:p.Gln119His chr10 82026282 82026285 VAR_006936 - Q00266:p.Arg199Cys chr10 82024911 82024914 VAR_031243 - Q00266:p.Arg264Cys chr10 82024911 82024914 VAR_006937 - Q00266:p.Arg264His chr10 82024788 82024791 VAR_006938 - Q00266:p.Leu305Pro chr10 82024374 82024377 VAR_006939 - Q00266:p.Ile322Met chr10 82024332 82024335 VAR_031244 - Q00266:p.Gly336Arg chr10 82024308 82024311 VAR_031245 - Q00266:p.Glu344Ala chr10 82024272 82024275 VAR_006940 - Q00266:p.Arg356Gln chr10 82024269 82024272 VAR_006941 - Q00266:p.Pro357Leu chr10 82023570 82023573 VAR_006942 - Q00266:p.Gly378Ser chr18 2545007 2545010 VAR_027670 - Q8N3J2:p.Leu163Phe chr7 115933515 115933518 VAR_041738 + P08581:p.Arg143Gln chr7 115933554 115933557 VAR_041739 + P08581:p.Ser156Leu chr7 115933590 115933593 VAR_041740 + P08581:p.Glu168Asp chr7 115933800 115933803 VAR_032478 + P08581:p.Leu238Ser chr7 115934034 115934037 VAR_032479 + P08581:p.Ile316Met chr7 115934046 115934049 VAR_006285 + P08581:p.Ala320Val chr7 115934211 115934214 VAR_032480 + P08581:p.Asn375Ser chr7 115993447 115993450 VAR_032481 + P08581:p.Pro773Leu chr7 116005873 116005876 VAR_032482 + P08581:p.Arg970Cys chr7 116005936 116005939 VAR_032483 + P08581:p.Pro991Ser chr7 116005939 116005942 VAR_032484 + P08581:p.Thr992Ile chr7 116011407 116011410 VAR_032485 + P08581:p.Val1092Ile chr7 116011413 116011416 VAR_032486 + P08581:p.His1094Leu chr7 116011413 116011416 VAR_032487 + P08581:p.His1094Arg chr7 116011413 116011416 VAR_032488 + P08581:p.His1094Tyr chr7 116011449 116011452 VAR_032489 + P08581:p.His1106Asp chr7 116012830 116012833 VAR_006286 + P08581:p.Met1131Thr chr7 116012956 116012959 VAR_032490 + P08581:p.Thr1173Ile chr7 116016031 116016034 VAR_006287 + P08581:p.Val1188Leu chr7 116016052 116016055 VAR_006288 + P08581:p.Leu1195Val chr7 116017333 116017336 VAR_006289 + P08581:p.Val1220Ile chr7 116017357 116017360 VAR_006291 + P08581:p.Asp1228His chr7 116017357 116017360 VAR_006290 + P08581:p.Asp1228Asn chr7 116017363 116017366 VAR_006292 + P08581:p.Tyr1230Cys chr7 116017363 116017366 VAR_032491 + P08581:p.Tyr1230Asp chr7 116017363 116017366 VAR_006293 + P08581:p.Tyr1230His chr7 116017405 116017408 VAR_032492 + P08581:p.Lys1244Arg chr7 116017423 116017426 VAR_032493 + P08581:p.Met1250Ile chr7 116017423 116017426 VAR_006294 + P08581:p.Met1250Thr chr12 8698333 8698336 VAR_036430 - Q13361:p.Val61Asp chr15 87257545 87257548 VAR_029794 - Q08431:p.Arg3Ser chr8 8787489 8787492 VAR_036846 - Q9Y4C4:p.Leu163Val chr3 180577851 180577854 VAR_036115 + Q8IWA4:p.Asp415His chr3 180579208 180579211 VAR_018606 + Q8IWA4:p.Pro523Arg chr1 11986906 11986909 VAR_018607 + O95140:p.Val69Phe chr1 11986927 11986930 VAR_018608 + O95140:p.Leu76Pro chr1 11986981 11986984 VAR_018609 + O95140:p.Arg94Gln chr1 11986981 11986984 VAR_029876 + O95140:p.Arg94Trp chr1 11993108 11993111 VAR_029877 + O95140:p.Thr206Ile chr1 11993352 11993355 VAR_018610 + O95140:p.Pro251Ala chr1 11995732 11995735 VAR_029878 + O95140:p.Gln276Arg chr1 11995744 11995747 VAR_018611 + O95140:p.Arg280His chr1 11996334 11996337 VAR_022464 + O95140:p.Lys357Asn chr1 11996346 11996349 VAR_029879 + O95140:p.His361Tyr chr1 11996355 11996358 VAR_029880 + O95140:p.Arg364Trp chr1 12005831 12005834 VAR_018612 + O95140:p.Trp740Ser chr22 36190560 36190563 VAR_024467 - O00587:p.Arg302Cys chr11 118722074 118722077 VAR_025691 - Q9BY79:p.Arg54Gly chr11 118721762 118721765 VAR_025692 - Q9BY79:p.Ile119Val chr11 118721711 118721714 VAR_025693 - Q9BY79:p.Val136Met chr11 118721434 118721437 VAR_025694 - Q9BY79:p.Ile182Thr chr11 118718555 118718558 VAR_025695 - Q9BY79:p.Gly449Ser chr11 118717665 118717668 VAR_025696 - Q9BY79:p.Gln514His chr3 160002712 160002715 VAR_030138 + Q9H3U5:p.Pro24Ser chr3 160009730 160009733 VAR_030139 + Q9H3U5:p.Lys168Glu chr3 160020144 160020147 VAR_030140 + Q9H3U5:p.Ile220Val chr8 145706831 145706834 VAR_030141 + Q96ES6:p.Gly292Arg chr1 202281697 202281700 VAR_030142 + Q8N468:p.Leu228Ile chr1 202285740 202285743 VAR_030143 + Q8N468:p.Gly314Ala chr4 129222623 129222626 VAR_037176 - Q8NHS3:p.Val109Gly chr4 129209510 129209513 VAR_037177 - Q8NHS3:p.Gly310Asp chr4 129200478 129200481 VAR_037178 - Q8NHS3:p.Gly385Arg chr4 129200364 129200367 VAR_037179 - Q8NHS3:p.Ala423Val chr4 129200346 129200349 VAR_037180 - Q8NHS3:p.Gly429Asp chr5 180151908 180151911 VAR_028272 - P26572:p.Arg223Gln chr14 49158519 49158522 VAR_003415 + Q10469:p.His262Arg chr14 49158603 49158606 VAR_003416 + Q10469:p.Ser290Phe chr14 49158687 49158690 VAR_012343 + Q10469:p.Asn318Asp chr10 131224593 131224596 VAR_014750 + P16455:p.Glu30Lys chr10 131396194 131396197 VAR_029112 + P16455:p.Pro58Ser chr10 131396215 131396218 VAR_020354 + P16455:p.Trp65Cys chr10 131396272 131396275 VAR_014751 + P16455:p.Leu84Phe chr10 131455053 131455056 VAR_014752 + P16455:p.Ile143Val chr10 131455104 131455107 VAR_014753 + P16455:p.Gly160Arg chr10 131455122 131455125 VAR_014754 + P16455:p.Glu166Asp chr10 131455158 131455161 VAR_014755 + P16455:p.Lys178Arg chr12 10650230 10650233 VAR_036431 - Q96A72:p.Glu119Lys chr12 14927183 14927186 VAR_016177 - P08493:p.Lys53Glu chr12 14926345 14926348 VAR_016178 - P08493:p.Thr102Ala chr20 33751049 33751052 VAR_014127 + P60602:p.Ala28Pro chr4 140982284 140982287 VAR_019997 + Q99735:p.Ala101Val chr1 162350784 162350787 VAR_012061 + O14880:p.Gly15Cys chr1 162351932 162351935 VAR_012062 + O14880:p.Pro48Ser chr5 179157989 179157992 VAR_032446 - Q9UQ53:p.Leu491Phe chr1 219190400 219190403 VAR_032546 + Q5JRA6:p.Lys482Glu chr1 219190769 219190772 VAR_032547 + Q5JRA6:p.Lys605Arg chr1 219191597 219191600 VAR_032548 + Q5JRA6:p.Glu881Gly chr1 219221742 219221743 VAR_032549 + Q5JRA6:p.Gly1659Cys chr1 219221913 219221915 VAR_032549 + Q5JRA6:p.Gly1659Cys chr1 219223845 219223848 VAR_032550 + Q5JRA6:p.Lys1723Glu chr6 109879501 109879504 VAR_036191 - Q8TDZ2:p.Leu309Met chr6 109874621 109874624 VAR_017903 - Q8TDZ2:p.Ala758Glu chr11 12187687 12187690 VAR_021992 + O94851:p.Ile220Val chr11 12237950 12237953 VAR_020257 + O94851:p.Arg1089Gln chr11 12238001 12238004 VAR_024523 + O94851:p.Leu1106Pro chr19 285438 285441 VAR_037695 - Q8N344:p.Asp68Asn chr19 278920 278923 VAR_037696 - Q8N344:p.Asp104Asn chr19 258342 258345 VAR_037697 - Q8N344:p.Pro464Ser chr19 258279 258282 VAR_037698 - Q8N344:p.Ser485Gly chr22 36648006 36648009 VAR_018262 + Q8N3F8:p.Ala519Ser chr22 36648198 36648201 VAR_020258 + Q8N3F8:p.Pro583Leu chr22 36658277 36658280 VAR_036192 + Q8N3F8:p.Glu817Lys chr7 1255339 1255342 VAR_034071 - Q8IY33:p.Ala480Pro chr7 1255222 1255225 VAR_034072 - Q8IY33:p.Pro519Leu chr3 99147412 99147415 VAR_036811 - Q8IUF8:p.Ala386Thr chr10 89254772 89254775 VAR_022836 + Q9UNW1:p.Ser41Leu chr10 89258242 89258245 VAR_022837 + Q9UNW1:p.Gln270Arg chr1 16000948 16000951 VAR_017119 + Q96T58:p.Ala970Val chr1 16001008 16001011 VAR_035483 + Q96T58:p.Asp990His chr1 16001311 16001314 VAR_017120 + Q96T58:p.Leu1091Pro chr1 16002502 16002505 VAR_035484 + Q96T58:p.Arg1488Ile chr1 16005118 16005121 VAR_017121 + Q96T58:p.Asn2360Asp chr2 239019749 239019752 VAR_034841 + Q8TDR0:p.Asn228Ser chr2 239019782 239019785 VAR_034842 + Q8TDR0:p.Arg239Trp chr2 239088267 239088270 VAR_034843 + Q8TDR0:p.Met620Leu chr12 55133764 55133767 VAR_011497 - P30301:p.Glu134Gly chr12 55133752 55133755 VAR_011498 - P30301:p.Thr138Arg chr16 660985 660988 VAR_026637 + Q8IXI1:p.Arg245Gln chr16 662331 662334 VAR_026638 + Q8IXI1:p.Arg425Cys chr17 5332966 5332969 VAR_034106 + Q9H081:p.Met21Val chr4 10243998 10244001 VAR_037984 - Q7Z7G1:p.Ser65Gly chr19 2200364 2200367 VAR_007483 + P03971:p.Val12Gly chr19 2200538 2200541 VAR_007485 + P03971:p.Leu70Pro chr19 2200631 2200634 VAR_007486 + P03971:p.Gly101Val chr19 2200697 2200700 VAR_007487 + P03971:p.Arg123Trp chr19 2201421 2201424 VAR_007488 + P03971:p.Tyr167Cys chr19 2201475 2201478 VAR_007489 + P03971:p.Gln185Glu chr19 2201674 2201677 VAR_007490 + P03971:p.Arg194Cys chr19 2202245 2202248 VAR_007491 + P03971:p.Gln325Arg chr19 2202701 2202704 VAR_007492 + P03971:p.Val477Ala chr19 2202788 2202791 VAR_031027 + P03971:p.His506Gln chr19 2202845 2202848 VAR_031028 + P03971:p.Cys525Tyr chr11 118502873 118502876 VAR_026547 + Q9BQA5:p.Pro4Ser chr11 118506694 118506697 VAR_026548 + Q9BQA5:p.Ser78Cys chr11 118509053 118509056 VAR_038793 + Q9BQA5:p.Lys352Arg chr5 179640128 179640131 VAR_042260 - P45984:p.Val13Met chr5 179628969 179628972 VAR_042261 - P45984:p.Lys56Asn chr5 179602311 179602314 VAR_042262 - P45984:p.Ala246Thr chr5 179602245 179602248 VAR_025175 - P45984:p.Gly268Ala chr5 179597971 179597974 VAR_042263 - P45984:p.Arg366Ile chr22 48999133 48999136 VAR_042265 - P53778:p.Thr103Met chr22 48996696 48996699 VAR_042266 - P53778:p.Asp230Asn chr22 48996539 48996542 VAR_012002 - P53778:p.Thr244Met chr2 122204830 122204833 VAR_027182 - Q9BYG3:p.Pro144Gln chr20 10342066 10342069 VAR_017035 - Q9NPJ1:p.Ile32Met chr20 10342051 10342054 VAR_009864 - Q9NPJ1:p.Tyr37Cys chr20 10342015 10342018 VAR_009865 - Q9NPJ1:p.Gly49Val chr20 10342006 10342009 VAR_009882 - Q9NPJ1:p.Gly52Asp chr20 10341991 10341994 VAR_009883 - Q9NPJ1:p.Thr57Ala chr20 10341910 10341913 VAR_009866 - Q9NPJ1:p.His84Tyr chr20 10341697 10341700 VAR_017040 - Q9NPJ1:p.Arg155Leu chr20 10341619 10341622 VAR_038898 - Q9NPJ1:p.Ala181Pro chr20 10341454 10341457 VAR_017036 - Q9NPJ1:p.Ser236Pro chr20 10341451 10341454 VAR_038899 - Q9NPJ1:p.Thr237Ala chr20 10341451 10341454 VAR_038900 - Q9NPJ1:p.Thr237Pro chr20 10341436 10341439 VAR_009867 - Q9NPJ1:p.Ala242Ser chr20 10341331 10341334 VAR_009884 - Q9NPJ1:p.Leu277Pro chr20 10341304 10341307 VAR_017037 - Q9NPJ1:p.Asp286Ala chr20 10341187 10341190 VAR_038901 - Q9NPJ1:p.Thr325Pro chr20 10337419 10337422 VAR_017041 - Q9NPJ1:p.Ile339Val chr20 10337401 10337404 VAR_017042 - Q9NPJ1:p.Gly345Glu chr20 10334227 10334230 VAR_038902 - Q9NPJ1:p.Ser460Pro chr20 10334131 10334134 VAR_038903 - Q9NPJ1:p.Asp492Asn chr20 10334110 10334113 VAR_013161 - Q9NPJ1:p.Cys499Ser chr20 10334074 10334077 VAR_017038 - Q9NPJ1:p.Ser511Ala chr20 10334056 10334059 VAR_009868 - Q9NPJ1:p.Arg517Cys chr20 10334053 10334056 VAR_017039 - Q9NPJ1:p.Arg518His chr20 10334011 10334014 VAR_009869 - Q9NPJ1:p.Gly532Val chr22 39138997 39139000 VAR_021409 - Q969V6:p.Ser648Gly chr15 21362454 21362457 VAR_035955 + Q13064:p.Thr145Met chr15 21362736 21362739 VAR_035956 + Q13064:p.Ser239Thr chr10 28072230 28072233 VAR_033875 - Q8IYA7:p.Arg40His chr11 46360243 46360249 VAR_006353 + P21741:p.21_22del chr22 48825611 48825614 VAR_017438 - Q15049:p.Gly59Glu chr22 48821274 48821277 VAR_017439 - Q15049:p.Pro92Ser chr22 48821271 48821274 VAR_011699 - Q15049:p.Ser93Leu chr22 48820872 48820875 VAR_011700 - Q15049:p.Thr118Arg chr22 48820803 48820806 VAR_017440 - Q15049:p.Asn141Lys chr22 48820803 48820806 VAR_017441 - Q15049:p.Asn141Ser chr22 48815179 48815182 VAR_011701 - Q15049:p.Gly212Arg chr22 48809372 48809375 VAR_011702 - Q15049:p.Ser280Leu chr22 48805051 48805054 VAR_012731 - Q15049:p.Leu309Met chr3 159803404 159803407 VAR_022070 + P58340:p.Pro226Thr chr12 6730169 6730172 VAR_036429 - Q15773:p.Phe80Cys chr3 37010093 37010096 VAR_022663 + P40692:p.Arg18Cys chr3 37010096 37010099 VAR_043383 + P40692:p.Ile19Phe chr3 37010102 37010105 VAR_043384 + P40692:p.Ala21Val chr3 37010105 37010108 VAR_038023 + P40692:p.Gly22Ala chr3 37010114 37010117 VAR_043385 + P40692:p.Ile25Phe chr3 37010123 37010126 VAR_004433 + P40692:p.Pro28Leu chr3 37010126 37010129 VAR_043386 + P40692:p.Ala29Ser chr3 37010135 37010138 VAR_014876 + P40692:p.Ile32Val chr3 37010144 37010147 VAR_043387 + P40692:p.Met35Lys chr3 37010144 37010147 VAR_043388 + P40692:p.Met35Asn chr3 37010144 37010147 VAR_004434 + P40692:p.Met35Arg chr3 37010150 37010153 VAR_004435 + P40692:p.Glu37Glu chr3 37010153 37010156 VAR_043389 + P40692:p.Asn38His chr3 37013117 37013120 VAR_043390 + P40692:p.Asp41Gly chr3 37013126 37013129 VAR_004436 + P40692:p.Ser44Phe chr3 37013129 37013138 VAR_043391 + P40692:p.Thr45_Ile47delinsCysPhe chr3 37013156 37013159 VAR_012902 + P40692:p.Gly54Glu chr3 37013180 37013183 VAR_004437 + P40692:p.Gln62Lys chr3 37013183 37013186 VAR_043392 + P40692:p.Asp63Glu chr3 37013186 37013189 VAR_004438 + P40692:p.Asn64Ser chr3 37013195 37013198 VAR_038024 + P40692:p.Gly67Glu chr3 37013195 37013198 VAR_004439 + P40692:p.Gly67Arg chr3 37013195 37013198 VAR_012903 + P40692:p.Gly67Trp chr3 37013198 37013201 VAR_004440 + P40692:p.Ile68Asn chr3 37013201 37013204 VAR_004441 + P40692:p.Arg69Lys chr3 37017452 37017455 VAR_043393 + P40692:p.71del chr3 37017470 37017473 VAR_004442 + P40692:p.Cys77Arg chr3 37017470 37017473 VAR_012904 + P40692:p.Cys77Tyr chr3 37017479 37017482 VAR_012905 + P40692:p.Phe80Val chr3 37017491 37017494 VAR_012906 + P40692:p.Lys84Glu chr3 37017518 37017521 VAR_004443 + P40692:p.Ser93Gly chr3 37017542 37017545 VAR_022664 + P40692:p.Gly101Asp chr3 37017545 37017548 VAR_043394 + P40692:p.Glu102Lys chr3 37020904 37020907 VAR_043395 + P40692:p.Ser106Arg chr3 37020907 37020910 VAR_004444 + P40692:p.Ile107Arg chr3 37020913 37020916 VAR_043396 + P40692:p.His109Gln chr3 37020919 37020922 VAR_012907 + P40692:p.Ala111Val chr3 37020937 37020940 VAR_004445 + P40692:p.Thr117Met chr3 37020937 37020940 VAR_004446 + P40692:p.Thr117Arg chr3 37023486 37023489 VAR_012908 + P40692:p.Ala128Pro chr3 37023498 37023501 VAR_022665 + P40692:p.Asp132His chr3 37025317 37025320 VAR_043397 + P40692:p.Leu155Arg chr3 37025398 37025400 VAR_012909 + P40692:p.Arg182Gly chr3 37028314 37028315 VAR_012909 + P40692:p.Arg182Gly chr3 37025398 37025400 VAR_022666 + P40692:p.Arg182Lys chr3 37028314 37028315 VAR_022666 + P40692:p.Arg182Lys chr3 37028321 37028324 VAR_004447 + P40692:p.Val185Gly chr3 37028321 37028324 VAR_043398 + P40692:p.Val185Leu chr3 37028345 37028348 VAR_004448 + P40692:p.Ser193Pro chr3 37028553 37028556 VAR_012910 + P40692:p.Val213Met chr3 37028565 37028568 VAR_004449 + P40692:p.Arg217Cys chr3 37028565 37028568 VAR_020469 + P40692:p.Arg217Gly chr3 37028571 37028574 VAR_004450 + P40692:p.Ile219Val chr3 37028592 37028594 VAR_004451 + P40692:p.Arg226Leu chr3 37030926 37030927 VAR_004451 + P40692:p.Arg226Leu chr3 37030948 37030951 VAR_043399 + P40692:p.Glu234Gly chr3 37030978 37030981 VAR_012911 + P40692:p.Gly244Asp chr3 37030978 37030981 VAR_012912 + P40692:p.Gly244Val chr3 37030987 37030990 VAR_043400 + P40692:p.Ser247Pro chr3 37031026 37031029 VAR_043401 + P40692:p.Leu260Arg chr3 37031032 37031035 VAR_012913 + P40692:p.262del chr3 37031038 37031039 VAR_043402 + P40692:p.His264Tyr chr3 37034000 37034002 VAR_043402 + P40692:p.His264Tyr chr3 37034002 37034005 VAR_012914 + P40692:p.Arg265His chr3 37034011 37034014 VAR_012915 + P40692:p.Glu268Gly chr3 37034053 37034056 VAR_043403 + P40692:p.Ala282Gly chr3 37034083 37034086 VAR_043404 + P40692:p.Leu292Pro chr3 37034092 37034094 VAR_012916 + P40692:p.Ser295Thr chr3 37036804 37036805 VAR_012916 + P40692:p.Ser295Thr chr3 37036829 37036832 VAR_043405 + P40692:p.Asp304Val chr3 37036844 37036847 VAR_038025 + P40692:p.Pro309Ser chr3 37036880 37036883 VAR_043406 + P40692:p.Ser321Ile chr3 37036892 37036901 VAR_043407 + P40692:p.325_327del chr3 37036892 37036895 VAR_012917 + P40692:p.Arg325Gln chr3 37036895 37036898 VAR_004453 + P40692:p.Val326Ala chr3 37036904 37036907 VAR_012918 + P40692:p.His329Pro chr3 37036907 37036910 VAR_043408 + P40692:p.330del chr3 37036931 37036934 VAR_043409 + P40692:p.Asn338Ser chr3 37042227 37042230 VAR_022667 + P40692:p.Tyr379Cys chr3 37042242 37042245 VAR_004454 + P40692:p.Val384Asp chr3 37042245 37042248 VAR_043410 + P40692:p.Arg385Cys chr3 37042245 37042248 VAR_043411 + P40692:p.Arg385Pro chr3 37042308 37042311 VAR_012919 + P40692:p.Ser406Asn chr3 37042413 37042416 VAR_012920 + P40692:p.Ala441Thr chr3 37042419 37042422 VAR_043412 + P40692:p.Lys443Gln chr3 37045282 37045285 VAR_043413 + P40692:p.Arg472Ile chr3 37045288 37045291 VAR_043414 + P40692:p.Arg474Gln chr3 37045321 37045324 VAR_043415 + P40692:p.Asp485Glu chr3 37045321 37045324 VAR_043416 + P40692:p.Asp485His chr3 37045342 37045345 VAR_004455 + P40692:p.Ala492Thr chr3 37045384 37045387 VAR_004456 + P40692:p.Val506Ala chr3 37056745 37056748 VAR_004457 + P40692:p.Gln542Leu chr3 37056745 37056748 VAR_043417 + P40692:p.Gln542Pro chr3 37056766 37056769 VAR_012921 + P40692:p.Leu549Pro chr3 37056769 37056772 VAR_043418 + P40692:p.Leu550Pro chr3 37056772 37056775 VAR_012922 + P40692:p.Asn551Thr chr3 37058769 37058772 VAR_022668 + P40692:p.Leu559Arg chr3 37058787 37058790 VAR_012923 + P40692:p.Ile565Phe chr3 37058814 37058817 VAR_004458 + P40692:p.Leu574Pro chr3 37064013 37064016 VAR_004459 + P40692:p.Glu578Gly chr3 37064025 37064028 VAR_004460 + P40692:p.Leu582Val chr3 37064037 37064040 VAR_015689 + P40692:p.Ala586Pro chr3 37064043 37064046 VAR_012924 + P40692:p.Leu588Pro chr3 37064046 37064049 VAR_043419 + P40692:p.Ala589Asp chr3 37064067 37064070 VAR_043420 + P40692:p.596del chr3 37064082 37064085 VAR_043421 + P40692:p.Asp601Gly chr3 37064088 37064091 VAR_012925 + P40692:p.Pro603Arg chr3 37064100 37064103 VAR_012926 + P40692:p.Leu607His chr3 37064115 37064118 VAR_043422 + P40692:p.612del chr3 37064127 37064130 VAR_004461 + P40692:p.616del chr3 37064133 37064136 VAR_004462 + P40692:p.Lys618Ala chr3 37064133 37064136 VAR_043424 + P40692:p.Lys618Arg chr3 37064133 37064136 VAR_004463 + P40692:p.Lys618Thr chr3 37064133 37064136 VAR_043423 + P40692:p.618del chr3 37064145 37064148 VAR_012927 + P40692:p.Leu622His chr3 37064148 37064151 VAR_043425 + P40692:p.Ala623Pro chr3 37064157 37064163 VAR_004464 + P40692:p.Phe626_Ser627delinsSerThr chr3 37064172 37064175 VAR_043426 + P40692:p.Asp631Ala chr3 37065017 37065020 VAR_043427 + P40692:p.Asn635Lys chr3 37065020 37065023 VAR_043428 + P40692:p.Leu636Pro chr3 37065032 37065035 VAR_043429 + P40692:p.Pro640Ser chr3 37065050 37065053 VAR_043430 + P40692:p.Tyr646Cys chr3 37065056 37065059 VAR_012928 + P40692:p.Pro648Leu chr3 37065056 37065059 VAR_022669 + P40692:p.Pro648Ser chr3 37065074 37065077 VAR_043431 + P40692:p.Pro654Leu chr3 37065077 37065080 VAR_043432 + P40692:p.Ile655Val chr3 37065083 37065086 VAR_043433 + P40692:p.657del chr3 37065089 37065092 VAR_012929 + P40692:p.Arg659Leu chr3 37065089 37065092 VAR_004465 + P40692:p.Arg659Pro chr3 37065089 37065092 VAR_043434 + P40692:p.Arg659Gln chr3 37065098 37065101 VAR_012930 + P40692:p.Thr662Pro chr3 37065449 37065452 VAR_004466 + P40692:p.Ala681Thr chr3 37065467 37065470 VAR_012931 + P40692:p.Arg687Trp chr3 37065473 37065476 VAR_012932 + P40692:p.Gln689Arg chr3 37067022 37067025 VAR_012933 + P40692:p.Val716Met chr3 37067028 37067031 VAR_004467 + P40692:p.His718Tyr chr3 37067031 37067034 VAR_043435 + P40692:p.Ile719Ile chr3 37067046 37067049 VAR_043436 + P40692:p.Leu724Met chr3 37067061 37067064 VAR_004468 + P40692:p.Leu729Val chr3 37067121 37067124 VAR_043437 + P40692:p.Leu749Pro chr3 37067127 37067130 VAR_012934 + P40692:p.Lys751Arg chr3 37067139 37067142 VAR_012935 + P40692:p.Arg755Trp chr14 74586039 74586042 VAR_012946 - Q9UHC1:p.Gln24Glu chr14 74585832 74585835 VAR_023338 - Q9UHC1:p.Arg93Gly chr14 74585751 74585754 VAR_023339 - Q9UHC1:p.Phe120Ser chr14 74585418 74585421 VAR_023340 - Q9UHC1:p.Lys231Gln chr14 74584851 74584854 VAR_023341 - Q9UHC1:p.Val420Ile chr14 74584635 74584638 VAR_023342 - Q9UHC1:p.Leu492Val chr14 74584629 74584632 VAR_010790 - Q9UHC1:p.His494Arg chr14 74584614 74584617 VAR_012947 - Q9UHC1:p.Asn499Ser chr14 74584311 74584314 VAR_023343 - Q9UHC1:p.Arg600Gln chr14 74584293 74584296 VAR_023344 - Q9UHC1:p.Thr606Pro chr14 74584239 74584242 VAR_012948 - Q9UHC1:p.Glu624Gln chr14 74584170 74584173 VAR_012949 - Q9UHC1:p.Arg647Cys chr14 74583951 74583954 VAR_023345 - Q9UHC1:p.Tyr720Cys chr14 74583942 74583945 VAR_023346 - Q9UHC1:p.Val723Ile chr14 74583888 74583891 VAR_023347 - Q9UHC1:p.Val741Phe chr14 74583720 74583723 VAR_023348 - Q9UHC1:p.Arg797His chr14 74583660 74583663 VAR_012950 - Q9UHC1:p.Ser817Gly chr14 74583579 74583582 VAR_023349 - Q9UHC1:p.Pro844Leu chr14 74583576 74583579 VAR_023350 - Q9UHC1:p.Ser845Gly chr14 74583285 74583288 VAR_023351 - Q9UHC1:p.Thr942Ile chr14 74583213 74583216 VAR_023352 - Q9UHC1:p.Ser966Pro chr14 74583168 74583171 VAR_012951 - Q9UHC1:p.Gly981Ser chr14 74583090 74583093 VAR_012952 - Q9UHC1:p.Asn1007Ser chr14 74582892 74582895 VAR_023353 - Q9UHC1:p.Asp1073Asn chr14 74578898 74578901 VAR_023354 - Q9UHC1:p.Asp1105Glu chr14 74576447 74576450 VAR_023355 - Q9UHC1:p.Gly1163Asp chr14 74567028 74567031 VAR_023356 - Q9UHC1:p.Gly1319Arg chr14 74555344 74555347 VAR_012953 - Q9UHC1:p.Ala1394Thr chr14 74553546 74553549 VAR_012954 - Q9UHC1:p.Glu1451Lys chr7 151399913 151399916 VAR_036311 - Q8NEZ4:p.Cys347Gly chr7 151397847 151397850 VAR_036312 - Q8NEZ4:p.Asp400Asn chr7 151387313 151387316 VAR_036313 - Q8NEZ4:p.Leu478Trp chr7 151382697 151382700 VAR_017118 - Q8NEZ4:p.Ile823Asn chr7 151382697 151382700 VAR_017117 - Q8NEZ4:p.Ile823Thr chr7 151297215 151297218 VAR_036314 - Q8NEZ4:p.Thr3698Ser chr12 109819681 109819684 VAR_004601 - P10916:p.Ala13Thr chr12 109819666 109819669 VAR_004602 - P10916:p.Phe18Leu chr12 109819654 109819657 VAR_004603 - P10916:p.Glu22Lys chr12 109814812 109814814 VAR_029449 - P10916:p.Gly57Arg chr12 109816238 109816239 VAR_029449 - P10916:p.Gly57Arg chr12 109814809 109814812 VAR_004604 - P10916:p.Arg58Gln chr12 109813837 109813840 VAR_004605 - P10916:p.Pro95Ala chr12 109811603 109811606 VAR_019844 - P10916:p.Asp166Val chr2 173900017 173900020 VAR_040806 + Q9NYL2:p.Thr267Met chr2 173900059 173900062 VAR_040807 + Q9NYL2:p.Ala281Thr chr2 173900059 173900062 VAR_040808 + Q9NYL2:p.Ala281Val chr2 173956319 173956322 VAR_040809 + Q9NYL2:p.Arg580Trp chr2 173956799 173956802 VAR_040810 + Q9NYL2:p.Pro740Thr chr2 173956898 173956901 VAR_040811 + Q9NYL2:p.Tyr773His chr2 173956931 173956934 VAR_040812 + Q9NYL2:p.Lys784Thr chr8 130858946 130858949 VAR_028138 - Q9BYG8:p.Pro23Ser chr8 130847175 130847178 VAR_028139 - Q9BYG8:p.Arg150Lys chr4 146918160 146918163 VAR_020835 + Q8IVH4:p.Leu89Pro chr4 146918328 146918331 VAR_020836 + Q8IVH4:p.Arg145Gln chr4 146924798 146924801 VAR_017202 + Q8IVH4:p.Tyr207Cys chr4 146924831 146924834 VAR_020837 + Q8IVH4:p.Gly218Glu chr4 146934008 146934011 VAR_038804 + Q8IVH4:p.Arg359Gly chr4 146934008 146934011 VAR_020838 + Q8IVH4:p.Arg359Gln chr4 146934020 146934023 VAR_020423 + Q8IVH4:p.Gln363His chr12 108473948 108473951 VAR_038803 - Q96EY8:p.Arg19His chr12 108473948 108473951 VAR_017203 - Q96EY8:p.Arg19Gln chr12 108469296 108469299 VAR_023471 - Q96EY8:p.Ile96Thr chr12 108462320 108462323 VAR_017204 - Q96EY8:p.Ala135Thr chr12 108461590 108461593 VAR_017205 - Q96EY8:p.Arg186Trp chr12 108461575 108461578 VAR_017206 - Q96EY8:p.Arg191Trp chr12 108461569 108461572 VAR_017207 - Q96EY8:p.Glu193Lys chr12 108457588 108457591 VAR_017208 - Q96EY8:p.Met239Lys chr1 45635175 45635178 VAR_024770 + Q9Y4U1:p.Gln27Arg chr1 45643045 45643048 VAR_024771 + Q9Y4U1:p.Leu116Pro chr1 45643063 45643066 VAR_024772 + Q9Y4U1:p.His122Arg chr1 45643087 45643090 VAR_024773 + Q9Y4U1:p.Tyr130His chr1 45643569 45643572 VAR_024774 + Q9Y4U1:p.Gly147Ala chr1 45643569 45643572 VAR_024775 + Q9Y4U1:p.Gly147Asp chr1 45643596 45643599 VAR_024776 + Q9Y4U1:p.Gly156Asp chr1 45643599 45643602 VAR_024777 + Q9Y4U1:p.Trp157Cys chr1 45643611 45643614 VAR_024778 + Q9Y4U1:p.Arg161Gly chr1 45643611 45643614 VAR_024779 + Q9Y4U1:p.Arg161Gln chr1 45643695 45643698 VAR_024780 + Q9Y4U1:p.Arg189Ser chr1 45643707 45643710 VAR_024781 + Q9Y4U1:p.Leu193Pro chr1 45643746 45643749 VAR_024782 + Q9Y4U1:p.Arg206Pro chr1 45643746 45643749 VAR_024783 + Q9Y4U1:p.Arg206Trp chr1 45643941 45643944 VAR_038805 + Q9Y4U1:p.Ser271Gly chr11 102156520 102156523 VAR_020949 - P09238:p.Leu4Val chr11 102155632 102155635 VAR_020950 - P09238:p.Arg53Lys chr11 102155596 102155599 VAR_020951 - P09238:p.Gly65Arg chr11 102155223 102155226 VAR_036139 - P09238:p.Glu142Gln chr11 102152661 102152664 VAR_020952 - P09238:p.Phe226Leu chr11 102152306 102152309 VAR_020953 - P09238:p.Gly282Glu chr11 102147962 102147965 VAR_020954 - P09238:p.Leu440Phe chr11 102146739 102146742 VAR_020955 - P09238:p.His475Leu chr22 22445948 22445951 VAR_022182 + P24347:p.Glu44Lys chr22 22445999 22446002 VAR_022183 + P24347:p.Pro61Leu chr22 22446074 22446077 VAR_022184 + P24347:p.Ser86Pro chr22 22447335 22447338 VAR_036140 + P24347:p.Asp166Asn chr22 22447383 22447386 VAR_029659 + P24347:p.Phe182Ser chr11 102331638 102331641 VAR_011971 - P45452:p.His2Leu chr11 102331327 102331330 VAR_032753 - P45452:p.Phe75Ser chr11 102323870 102323873 VAR_020534 - P45452:p.Asp390Gly chr16 56631436 56631439 VAR_030523 + P51511:p.Leu200Pro chr16 56633158 56633161 VAR_030524 + P51511:p.Pro350Leu chr16 56636626 56636629 VAR_030525 + P51511:p.Asp596Gly chr16 56636665 56636668 VAR_020055 + P51511:p.Gly609Arg chr16 56636704 56636707 VAR_030526 + P51511:p.Arg622Trp chr12 54520928 54520931 VAR_021036 - Q99542:p.Arg103Cys chr12 54517149 54517152 VAR_021037 - Q99542:p.Pro488Thr chr12 54517140 54517143 VAR_021038 - Q99542:p.Thr491Met chr11 102173946 102173949 VAR_011969 - P03956:p.Gln29Pro chr11 102172656 102172659 VAR_021024 - P03956:p.Ile191Val chr11 102171417 102171420 VAR_011970 - P03956:p.Asp252Gly chr11 102166728 102166731 VAR_021025 - P03956:p.Arg405Gln chr11 102166725 102166728 VAR_021026 - P03956:p.Ser406Thr chr11 101987801 101987804 VAR_020512 - O60882:p.Asp139Asn chr11 101987711 101987714 VAR_020513 - O60882:p.Ile169Leu chr11 101982603 101982606 VAR_020514 - O60882:p.Val275Ala chr11 101982585 101982588 VAR_020515 - O60882:p.Thr281Pro chr1_random 1266842 1266845 VAR_028948 + O75900:p.Phe91Leu chr11 4967480 4967483 VAR_033489 + Q9NRE1:p.Lys43Glu chr11 4970039 4970042 VAR_033490 + Q9NRE1:p.Ile260Met chr11 102081589 102081592 VAR_032326 - Q9H306:p.Arg22Trp chr11 102072415 102072418 VAR_032329 - Q9H306:p.Glu266Val chr11 102071028 102071031 VAR_032330 - Q9H306:p.Trp304Leu chr11 102067907 102067910 VAR_032331 - Q9H306:p.Asp447Asn chr11 102067817 102067820 VAR_032332 - Q9H306:p.Ile477Val chr16 54074468 54074471 VAR_032423 + P08253:p.Arg101His chr16 54076809 54076812 VAR_032424 + P08253:p.Asp210Tyr chr16 54077039 54077042 VAR_036136 + P08253:p.Ala228Thr chr16 54083242 54083245 VAR_032425 + P08253:p.Glu404Lys chr16 54084572 54084575 VAR_020616 + P08253:p.Ala447Val chr16 54088357 54088360 VAR_036137 + P08253:p.Thr498Met chr16 54094282 54094285 VAR_020617 + P08253:p.Val621Leu chr16 54096801 54096804 VAR_036138 + P08253:p.Ser644Ile chr3 11855758 11855761 VAR_027276 - Q96BW9:p.Asn116Ser chr11 102218827 102218830 VAR_013090 - P08254:p.Lys45Glu chr11 101903801 101903804 VAR_006729 - P09237:p.Arg77His chr11 101903537 101903540 VAR_021027 - P09237:p.Gly137Asp chr11 101899232 101899235 VAR_021028 - P09237:p.Pro241Leu chr11 102100787 102100790 VAR_025036 - P22894:p.Ser3Cys chr11 102100700 102100703 VAR_025037 - P22894:p.Thr32Ile chr11 102098455 102098458 VAR_006730 - P22894:p.Lys87Glu chr11 102097588 102097591 VAR_025038 - P22894:p.Gly154Glu chr11 102097384 102097387 VAR_025039 - P22894:p.Asp193Val chr11 102094400 102094403 VAR_025040 - P22894:p.Asn246Tyr chr11 102089384 102089387 VAR_025041 - P22894:p.Val436Ala chr11 102089312 102089315 VAR_025042 - P22894:p.Lys460Thr chr20 44071029 44071032 VAR_013780 + P14780:p.Ala20Val chr20 44071083 44071086 VAR_037004 + P14780:p.Asn38Ser chr20 44072016 44072019 VAR_013781 + P14780:p.Glu82Lys chr20 44072535 44072538 VAR_020054 + P14780:p.Asn127Lys chr20 44073253 44073256 VAR_025165 + P14780:p.Arg239His chr20 44075802 44075805 VAR_025166 + P14780:p.Phe571Val chr20 44076516 44076519 VAR_014742 + P14780:p.Arg668Gln chr10 88693176 88693179 VAR_036362 - Q9H8L6:p.Val448Met chr10 99230746 99230749 VAR_023448 - Q96T76:p.Ala68Gly chr10 99228104 99228107 VAR_023449 - Q96T76:p.Arg98Trp chr10 99226612 99226615 VAR_023450 - Q96T76:p.Val197Ile chr10 99219398 99219401 VAR_023451 - Q96T76:p.Arg306His chr10 99218121 99218124 VAR_023452 - Q96T76:p.Met365Val chr10 99217321 99217324 VAR_023453 - Q96T76:p.Gln409Pro chr10 99216643 99216646 VAR_023454 - Q96T76:p.Gln434Glu chr10 99215833 99215836 VAR_023455 - Q96T76:p.Val526Ile chr10 99215633 99215636 VAR_023456 - Q96T76:p.Ala558Val chr10 99210695 99210698 VAR_023457 - Q96T76:p.Gly790Asp chr10 99208984 99208987 VAR_023458 - Q96T76:p.Arg983His chr14 73601702 73601705 VAR_010244 - Q02252:p.Gly446Arg chr1 155626880 155626883 VAR_034107 + P41218:p.Ser156Arg chr1 155628734 155628737 VAR_012055 + P41218:p.Val286Leu chr1 155630671 155630674 VAR_020483 + P41218:p.His357Tyr chr18 32029243 32029246 VAR_027528 + Q96EN8:p.Ala57Pro chr18 32033701 32033704 VAR_027529 + Q96EN8:p.Ser120Asn chr18 32034223 32034226 VAR_027533 + Q96EN8:p.Thr294Ile chr18 32049623 32049626 VAR_027535 + Q96EN8:p.Asp495Asn chr18 32049761 32049764 VAR_027536 + Q96EN8:p.Val541Leu chr18 32085186 32085189 VAR_027537 + Q96EN8:p.His703Asn chr18 32102577 32102580 VAR_027538 + Q96EN8:p.Val867Ala chr1 39984980 39984983 VAR_020486 - Q9H3H1:p.Phe202Leu chr2 223384593 223384596 VAR_027389 + Q96PD6:p.Ser162Pro chr11 75106605 75106608 VAR_027390 + Q3SYC2:p.Met9Val chr11 75119910 75119913 VAR_027391 + Q3SYC2:p.Cys313Tyr chr14 101819575 101819578 VAR_042011 - Q9UQ07:p.Arg38His chr14 101799660 101799663 VAR_042012 - Q9UQ07:p.Asp86Asn chr14 101769779 101769782 VAR_042013 - Q9UQ07:p.Lys230Arg chr14 101768746 101768749 VAR_042014 - Q9UQ07:p.Pro248Ser chr14 101768674 101768677 VAR_042015 - Q9UQ07:p.Glu272Asp chr14 101765444 101765447 VAR_024576 - Q9UQ07:p.Gln398Arg chr4 174911945 174911948 VAR_034108 - Q9Y690:p.Glu193Asp chr1 2321078 2321081 VAR_027105 - Q5T089:p.His330Tyr chr2 39021208 39021211 VAR_027106 + Q502X0:p.Glu48Lys chr6 40003076 40003079 VAR_015658 - O14940:p.Arg73Trp chr6 40001439 40001442 VAR_015659 - O14940:p.Gly126Asp chr6 40001436 40001439 VAR_015660 - O14940:p.Gly127Asp chr6 39988009 39988012 VAR_015661 - O14940:p.Arg319Gln chr6 39987994 39987997 VAR_015662 - O14940:p.Gly324Glu chr5 52430251 52430254 VAR_012765 - O96007:p.Glu168Lys chr1 217358422 217358425 VAR_030129 + Q5VT66:p.Thr165Ala chr1 217358488 217358491 VAR_030130 + Q5VT66:p.Met187Lys chr1 217359733 217359736 VAR_030131 + Q5VT66:p.Cys246Ser chr1 217366836 217366839 VAR_030132 + Q5VT66:p.Met268Ile chr1 217324766 217324769 VAR_030133 + Q969Z3:p.Gly244Ser chr6 111650104 111650107 VAR_037874 + Q8TF71:p.Lys508Gln chr17 6887009 6887012 VAR_032157 - Q8NCK7:p.Asp127Gly chr1 110633754 110633757 VAR_020309 - O15374:p.Asn264His chr10 61084015 61084018 VAR_032619 - Q7RTY1:p.Thr258Lys chr10 61082682 61082685 VAR_032620 - Q7RTY1:p.Asp461Glu chr6 33876873 33876876 VAR_020372 - P12872:p.Val15Ala chr6 132678510 132678513 VAR_035185 - Q6UVY6:p.Glu488Gln chr6 132660678 132660681 VAR_035186 - Q6UVY6:p.Lys539Glu chr15 64514494 64514497 VAR_035093 + Q02750:p.Phe53Ser chr15 64516233 64516236 VAR_035094 + Q02750:p.Tyr130Cys chr19 4068548 4068551 VAR_035095 - P36507:p.Phe57Cys chr17 21142343 21142346 VAR_040817 + P46734:p.Arg26Thr chr17 21147093 21147096 VAR_014208 + P46734:p.Arg175Trp chr17 21148404 21148407 VAR_014209 + P46734:p.Leu215Val chr19 7881162 7881165 VAR_040825 + O14733:p.Asn118Ser chr19 7881222 7881225 VAR_040826 + O14733:p.Arg138Cys chr19 7881373 7881376 VAR_040827 + O14733:p.Arg162Cys chr19 7881373 7881376 VAR_040828 + O14733:p.Arg162His chr19 7881595 7881598 VAR_040829 + O14733:p.Ala195Thr chr19 7881963 7881966 VAR_029890 + O14733:p.Leu259Phe chr12 97491734 97491737 VAR_032850 + Q00325:p.Gly72Glu chr3 48201172 48201175 VAR_020932 - P30304:p.Ser88Phe chr3 48197217 48197220 VAR_023532 - P30304:p.Arg182Gly chr3 48197217 48197220 VAR_023533 - P30304:p.Arg182Trp chr20 3733506 3733509 VAR_020933 + P30305:p.Glu548Lys chr5 137694726 137694729 VAR_027922 - P30307:p.Ser14Asn chr5 137693219 137693222 VAR_027923 - P30307:p.Arg70Cys chr5 137693195 137693198 VAR_027924 - P30307:p.Ser78Asn chr5 137653124 137653127 VAR_020146 - P30307:p.Gly297Arg chr15 72970778 72970781 VAR_022516 + P34949:p.Met51Thr chr15 72970931 72970934 VAR_012338 + P34949:p.Ser102Leu chr15 72972093 72972096 VAR_022517 + P34949:p.Tyr129Cys chr15 72972099 72972102 VAR_022518 + P34949:p.Asp131Asn chr15 72972120 72972123 VAR_012339 + P34949:p.Met138Thr chr15 72972126 72972129 VAR_012345 + P34949:p.Ile140Thr chr15 72972162 72972165 VAR_022519 + P34949:p.Arg152Gln chr15 72972698 72972701 VAR_012340 + P34949:p.Arg219Gln chr15 72975622 72975625 VAR_022520 + P34949:p.Gly250Ser chr15 72975637 72975640 VAR_022521 + P34949:p.Tyr255Cys chr15 72976442 72976445 VAR_022522 + P34949:p.Arg295His chr15 72977043 72977046 VAR_022523 + P34949:p.Ile398Thr chr15 72977103 72977106 VAR_022524 + P34949:p.Arg418His chr2 71272277 71272280 VAR_024539 + O00566:p.Glu229Asp chr2 71278611 71278614 VAR_022000 + O00566:p.Leu425Met chr2 71288653 71288656 VAR_014470 + O00566:p.Glu634Lys chr10 91458903 91458906 VAR_030181 + Q96Q89:p.Ala50Gly chr10 91469188 91469191 VAR_030182 + Q96Q89:p.Glu490Asp chr10 91477627 91477630 VAR_030183 + Q96Q89:p.Asn756Ile chr10 91478957 91478960 VAR_030184 + Q96Q89:p.His789Leu chr10 91487608 91487611 VAR_030185 + Q96Q89:p.Asp1011Glu chr10 91487956 91487959 VAR_030186 + Q96Q89:p.Glu1127Gln chr10 91488232 91488235 VAR_030188 + Q96Q89:p.Asn1219Ser chr10 91522547 91522550 VAR_030189 + Q96Q89:p.Ile1789Val chr15 67459293 67459296 VAR_031436 + Q9NXK6:p.Ile24Thr chr6 160382747 160382750 VAR_021304 + P11717:p.Arg91His chr6 160416107 160416110 VAR_020470 + P11717:p.Pro203Leu chr6 160418671 160418674 VAR_021305 + P11717:p.Gly231Asp chr6 160418734 160418737 VAR_020471 + P11717:p.Leu252Val chr6 160421032 160421035 VAR_021306 + P11717:p.Asp273Gly chr6 160434643 160434646 VAR_021307 + P11717:p.Lys512Gln chr6 160434694 160434697 VAR_020472 + P11717:p.Arg529Gln chr6 160437231 160437234 VAR_020473 + P11717:p.Gly604Ser chr6 160438719 160438722 VAR_020474 + P11717:p.Ala724Thr chr6 160439920 160439923 VAR_021308 + P11717:p.Leu817Val chr6 160441966 160441969 VAR_020475 + P11717:p.Gly856Ser chr6 160453001 160453004 VAR_020476 + P11717:p.Thr1107Met chr6 160453052 160453055 VAR_021309 + P11717:p.Val1124Ile chr6 160453338 160453341 VAR_020477 + P11717:p.Thr1184Ser chr6 160455899 160455902 VAR_021310 + P11717:p.Gly1315Glu chr6 160455959 160455962 VAR_021311 + P11717:p.Arg1335His chr6 160471037 160471040 VAR_021313 + P11717:p.Arg1832His chr6 160471121 160471124 VAR_021314 + P11717:p.Gly1860Asp chr6 160471606 160471609 VAR_021315 + P11717:p.Ile1908Met chr6 160475616 160475619 VAR_014722 + P11717:p.Asn2020Ser chr6 160496425 160496428 VAR_021316 + P11717:p.Ala2459Val chr2 27447547 27447550 VAR_026217 - P39210:p.Arg50Gln chr2 27447547 27447550 VAR_026218 - P39210:p.Arg50Trp chr2 27444463 27444466 VAR_026219 - P39210:p.Asn166Lys chr11 117611500 117611503 VAR_031108 - Q6UWV2:p.Met155Val chr11 117605842 117605845 VAR_031109 - Q6UWV2:p.Asp228Val chr10 17909581 17909584 VAR_019700 + P22897:p.Thr167Ile chr17 58095648 58095651 VAR_025304 + Q9UBG0:p.Val43Ile chr14 102511780 102511783 VAR_040834 - Q9Y5S2:p.Lys500Glu chr14 102508227 102508230 VAR_040835 - Q9Y5S2:p.Arg555Gln chr14 102504788 102504791 VAR_040836 - Q9Y5S2:p.Arg671Gln chr14 102500689 102500692 VAR_040837 - Q9Y5S2:p.Arg876Trp chr14 102486633 102486636 VAR_025847 - Q9Y5S2:p.Ile1077Val chr14 102480443 102480446 VAR_040838 - Q9Y5S2:p.Glu1315Lys chr14 102474429 102474432 VAR_040839 - Q9Y5S2:p.Ser1633Tyr chr11 93858739 93858742 VAR_011625 - P49959:p.Ser104Cys chr11 93852538 93852541 VAR_008513 - P49959:p.Asn117Ser chr11 93851621 93851624 VAR_011626 - P49959:p.Met157Val chr11 93844521 93844524 VAR_036416 - P49959:p.Phe237Cys chr11 93843395 93843398 VAR_036417 - P49959:p.His302Tyr chr11 93843386 93843389 VAR_025528 - P49959:p.Arg305Trp chr11 93832317 93832320 VAR_019288 - P49959:p.Asp468Gly chr11 93829143 93829146 VAR_011627 - P49959:p.Arg503His chr11 93820099 93820102 VAR_011628 - P49959:p.Arg572Gln chr11 93792971 93792974 VAR_019289 - P49959:p.Met698Val chr11 18912799 18912802 VAR_019432 - Q96LB2:p.Ile36Val chr11 19034477 19034480 VAR_024739 - Q96LB1:p.Asn16His chr11 19034339 19034342 VAR_019433 - Q96LB1:p.Asn62Ser chr11 19034291 19034294 VAR_024740 - Q96LB1:p.Phe78Leu chr11 18115568 18115571 VAR_025507 + Q96LB0:p.Cys82Arg chr11 18151400 18151403 VAR_019435 + Q96LA9:p.Phe8Leu chr11 18151451 18151454 VAR_019436 + Q96LA9:p.Asn25Lys chr11 18151538 18151541 VAR_019437 + Q96LA9:p.Tyr54Cys chr11 18151922 18151925 VAR_025506 + Q96LA9:p.Ala182Val chr16 16009251 16009254 VAR_013317 + P33527:p.Cys43Ser chr16 16009341 16009344 VAR_013318 + P33527:p.Thr73Ile chr16 16049577 16049580 VAR_013320 + P33527:p.Arg433Ser chr10 101546946 101546949 VAR_029113 + Q92887:p.Met246Leu chr10 101547051 101547054 VAR_013324 + Q92887:p.Ser281Asn chr10 101549082 101549085 VAR_020226 + Q92887:p.Asp333Gly chr10 101550157 101550160 VAR_020227 + Q92887:p.Arg353His chr10 101553804 101553807 VAR_013325 + Q92887:p.Val417Ile chr10 101554011 101554014 VAR_029114 + Q92887:p.Thr486Ile chr10 101555146 101555149 VAR_029115 + Q92887:p.Lys495Glu chr10 101557844 101557847 VAR_029116 + Q92887:p.Phe562Leu chr10 101562804 101562807 VAR_020228 + Q92887:p.Ile670Thr chr10 101568566 101568569 VAR_000099 + Q92887:p.Arg768Trp chr10 101568629 101568632 VAR_013326 + Q92887:p.Ser789Phe chr10 101568940 101568943 VAR_020229 + Q92887:p.Leu849Arg chr10 101581417 101581420 VAR_029117 + Q92887:p.Ile982Val chr10 101581725 101581728 VAR_020230 + Q92887:p.Ile1036Thr chr10 101581806 101581809 VAR_029118 + Q92887:p.Asn1063Ser chr10 101585870 101585873 VAR_013327 + Q92887:p.Arg1150His chr10 101585939 101585942 VAR_013328 + Q92887:p.Ile1173Phe chr10 101585963 101585966 VAR_020231 + Q92887:p.Arg1181Leu chr10 101585984 101585987 VAR_020232 + Q92887:p.Val1188Glu chr10 101593620 101593623 VAR_024360 + Q92887:p.Thr1273Ala chr10 101594095 101594098 VAR_020233 + Q92887:p.Pro1291Leu chr10 101595526 101595529 VAR_010756 + Q92887:p.Gln1382Arg chr10 101596734 101596740 VAR_013329 + Q92887:p.1392_1393del chr10 101600382 101600385 VAR_013330 + Q92887:p.Ala1450Thr chr10 101601282 101601285 VAR_020234 + Q92887:p.Cys1515Tyr chr17 46067326 46067329 VAR_029119 + O15438:p.Gly11Asp chr17 46096077 46096080 VAR_020235 + O15438:p.Ser346Phe chr17 46100825 46100828 VAR_020236 + O15438:p.Ser607Asn chr17 46116017 46116020 VAR_029120 + O15438:p.Arg1286Gly chr17 46116050 46116053 VAR_020237 + O15438:p.Arg1297His chr17 46116395 46116398 VAR_020238 + O15438:p.Arg1348Cys chr17 46116446 46116449 VAR_020239 + O15438:p.Gln1365Arg chr17 46117095 46117098 VAR_020240 + O15438:p.Arg1381Ser chr13 94697301 94697304 VAR_029121 - O15439:p.Pro78Ala chr13 94661015 94661018 VAR_020241 - O15439:p.Met184Thr chr13 94661006 94661009 VAR_020242 - O15439:p.Gly187Trp chr13 94645144 94645147 VAR_029122 - O15439:p.Pro403Leu chr13 94637039 94637042 VAR_029123 - O15439:p.Gly487Glu chr13 94637006 94637009 VAR_020243 - O15439:p.Lys498Glu chr13 94616571 94616574 VAR_029124 - O15439:p.Ile625Met chr13 94616445 94616448 VAR_029125 - O15439:p.Pro667Leu chr13 94613452 94613455 VAR_020244 - O15439:p.Met744Val chr13 94613413 94613416 VAR_022073 - O15439:p.Glu757Lys chr13 94533500 94533503 VAR_020245 - O15439:p.Val860Met chr13 94525792 94525795 VAR_020246 - O15439:p.Val900Leu chr13 94503379 94503382 VAR_029126 - O15439:p.Thr1142Met chr13 94471865 94471868 VAR_029127 - O15439:p.Gln1314Arg chr16 16223039 16223048 VAR_013363 - O95255:p.60_62del chr16 16223042 16223045 VAR_013364 - O95255:p.Gly61Asp chr16 16213583 16213586 VAR_013366 - O95255:p.Gly207Arg chr16 16204922 16204925 VAR_013368 - O95255:p.Lys281Glu chr16 16204808 16204811 VAR_013369 - O95255:p.Ile319Val chr16 16203442 16203445 VAR_013370 - O95255:p.Thr364Arg chr16 16199483 16199486 VAR_013371 - O95255:p.Asn411Lys chr16 16194253 16194256 VAR_013372 - O95255:p.Ala455Pro chr16 16191665 16191668 VAR_013373 - O95255:p.Asn497Lys chr16 16191602 16191605 VAR_013374 - O95255:p.Arg518Gln chr16 16190263 16190266 VAR_013375 - O95255:p.Phe568Ser chr16 16188506 16188509 VAR_011490 - O95255:p.Val614Ala chr16 16186363 16186366 VAR_013376 - O95255:p.His632Gln chr16 16184212 16184215 VAR_013377 - O95255:p.Leu673Pro chr16 16180275 16180278 VAR_013378 - O95255:p.Arg765Gln chr16 16171139 16171142 VAR_013379 - O95255:p.Leu953His chr16 16164514 16164517 VAR_011491 - O95255:p.Arg1114Pro chr16 16164493 16164496 VAR_013380 - O95255:p.Ser1121Trp chr16 16164442 16164445 VAR_013381 - O95255:p.Arg1138Pro chr16 16164442 16164445 VAR_011492 - O95255:p.Arg1138Gln chr16 16164442 16164445 VAR_011493 - O95255:p.Arg1138Trp chr16 16162819 16162822 VAR_013382 - O95255:p.Gly1203Asp chr16 16160851 16160854 VAR_013383 - O95255:p.Trp1241Cys chr16 16159098 16159101 VAR_011494 - O95255:p.Arg1268Gln chr16 16156377 16156380 VAR_013384 - O95255:p.Val1298Phe chr16 16156368 16156371 VAR_013385 - O95255:p.Thr1301Ile chr16 16156365 16156368 VAR_013386 - O95255:p.Gly1302Arg chr16 16156362 16156365 VAR_013387 - O95255:p.Ala1303Pro chr16 16156329 16156332 VAR_013388 - O95255:p.Arg1314Gln chr16 16156329 16156332 VAR_011495 - O95255:p.Arg1314Trp chr16 16156308 16156311 VAR_013389 - O95255:p.Gly1321Ser chr16 16156254 16156257 VAR_013390 - O95255:p.Arg1339Cys chr16 16156230 16156233 VAR_013391 - O95255:p.Gln1347His chr16 16156131 16156134 VAR_013392 - O95255:p.Gly1354Arg chr16 16156110 16156113 VAR_013393 - O95255:p.Asp1361Asn chr16 16152066 16152069 VAR_013394 - O95255:p.Ile1424Thr chr6 43520841 43520844 VAR_028391 + Q5T3U5:p.Ile948Thr chr16 46737809 46737812 VAR_028392 - Q96J65:p.Ile9Leu chr16 46732734 46732737 VAR_028393 - Q96J65:p.Ala102Glu chr16 46708696 46708699 VAR_028394 - Q96J65:p.Asn587Tyr chr16 46695771 46695774 VAR_028395 - Q96J65:p.Lys894Met chr16 46692354 46692357 VAR_028396 - Q96J65:p.Thr989Ser chr16 46680080 46680083 VAR_028398 - Q96J65:p.Arg1117Cys chr16 46679399 46679402 VAR_028399 - Q96J65:p.Glu1191Ala chr16 46675159 46675162 VAR_028400 - Q96J65:p.Phe1349Leu chr6 24511355 24511358 VAR_023782 + Q9HD23:p.Pro35Ser chr11 59957840 59957843 VAR_036402 + Q9H3V2:p.Leu123Arg chr2 47542002 47542005 VAR_013171 + P43246:p.Thr8Met chr2 47542017 47542020 VAR_043736 + P43246:p.Ser13Ile chr2 47542029 47542032 VAR_043737 + P43246:p.Val17Phe chr2 47542077 47542080 VAR_043738 + P43246:p.Thr33Pro chr2 47542098 47542101 VAR_043739 + P43246:p.Gly40Ser chr2 47542107 47542110 VAR_019233 + P43246:p.Tyr43Cys chr2 47542110 47542113 VAR_043740 + P43246:p.Thr44Met chr2 47542113 47542116 VAR_043741 + P43246:p.Ala45Val chr2 47542116 47542119 VAR_004470 + P43246:p.His46Gln chr2 47547252 47547255 VAR_043742 + P43246:p.92del chr2 47547255 47547258 VAR_043743 + P43246:p.Leu93Phe chr2 47547264 47547267 VAR_004471 + P43246:p.Arg96His chr2 47547270 47547273 VAR_043744 + P43246:p.Tyr98Cys chr2 47547282 47547285 VAR_043745 + P43246:p.Val102Ile chr2 47547294 47547297 VAR_038026 + P43246:p.Arg106Lys chr2 47547306 47547309 VAR_043746 + P43246:p.Lys110Thr chr2 47548895 47548898 VAR_019234 + P43246:p.Asn127Ser chr2 47548931 47548934 VAR_004472 + P43246:p.Asn139Ser chr2 47548949 47548952 VAR_004473 + P43246:p.Ile145Met chr2 47548997 47549000 VAR_012936 + P43246:p.Val161Asp chr2 47549000 47549003 VAR_043747 + P43246:p.Gly162Arg chr2 47549003 47549006 VAR_043748 + P43246:p.Val163Asp chr2 47549003 47549006 VAR_022670 + P43246:p.Val163Gly chr2 47549006 47549009 VAR_043749 + P43246:p.Gly164Arg chr2 47549015 47549018 VAR_004474 + P43246:p.Asp167His chr2 47549021 47549024 VAR_043750 + P43246:p.Ile169Val chr2 47549033 47549036 VAR_043751 + P43246:p.Leu173Pro chr2 47549039 47549042 VAR_043752 + P43246:p.Leu175Pro chr2 47549075 47549078 VAR_043753 + P43246:p.Leu187Pro chr2 47549111 47549114 VAR_012937 + P43246:p.Cys199Arg chr2 47549123 47549126 VAR_043754 + P43246:p.Gly203Arg chr2 47551203 47551206 VAR_012938 + P43246:p.Ile216Val chr2 47551293 47551296 VAR_043755 + P43246:p.Lys246Gln chr2 47553058 47553208 VAR_004475 + P43246:p.265_314del chr2 47553079 47553082 VAR_043756 + P43246:p.Ala272Val chr2 47553112 47553115 VAR_043757 + P43246:p.Asp283Tyr chr2 47553178 47553181 VAR_004476 + P43246:p.Ala305Thr chr2 47555106 47555109 VAR_004477 + P43246:p.Gly322Asp chr2 47555109 47555112 VAR_012939 + P43246:p.Ser323Cys chr2 47555109 47555112 VAR_043758 + P43246:p.Ser323Tyr chr2 47555139 47555142 VAR_043759 + P43246:p.Cys333Tyr chr2 47555145 47555148 VAR_043760 + P43246:p.Thr335Ile chr2 47555148 47555151 VAR_043761 + P43246:p.Pro336Ser chr2 47555166 47555169 VAR_043762 + P43246:p.Val342Ile chr2 47555187 47555190 VAR_043763 + P43246:p.Pro349Leu chr2 47555217 47555219 VAR_043764 + P43246:p.Arg359Ser chr2 47568531 47568532 VAR_043764 + P43246:p.Arg359Ser chr2 47568622 47568625 VAR_004478 + P43246:p.Leu390Phe chr2 47568631 47568634 VAR_043765 + P43246:p.Lys393Met chr2 47568709 47568712 VAR_012940 + P43246:p.Gln419Lys chr2 47584378 47584381 VAR_043766 + P43246:p.440del chr2 47601907 47601910 VAR_043767 + P43246:p.Met492Val chr2 47605452 47605455 VAR_012941 + P43246:p.Asp506Tyr chr2 47605506 47605509 VAR_004479 + P43246:p.Arg524Pro chr2 47605590 47605593 VAR_043768 + P43246:p.Thr552Pro chr2 47605596 47605598 VAR_012942 + P43246:p.Ser554Arg chr2 47609754 47609755 VAR_012942 + P43246:p.Ser554Arg chr2 47609776 47609779 VAR_004480 + P43246:p.Glu562Val chr2 47609782 47609785 VAR_043769 + P43246:p.Thr564Ala chr2 47609839 47609842 VAR_043770 + P43246:p.Asn583Ser chr2 47613840 47613843 VAR_012943 + P43246:p.Asn596Ser chr2 47613840 47613843 VAR_004481 + P43246:p.596del chr2 47613852 47613855 VAR_043771 + P43246:p.Ala600Val chr2 47613861 47613864 VAR_043772 + P43246:p.Asp603Asn chr2 47613909 47613912 VAR_043773 + P43246:p.Tyr619Cys chr2 47613918 47613921 VAR_004482 + P43246:p.Pro622Leu chr2 47613939 47613942 VAR_043774 + P43246:p.Gln629Arg chr2 47613960 47613963 VAR_012944 + P43246:p.Ala636Pro chr2 47613969 47613972 VAR_043775 + P43246:p.His639Arg chr2 47613969 47613972 VAR_004483 + P43246:p.His639Tyr chr2 47613975 47613978 VAR_004484 + P43246:p.Cys641Gly chr2 47613993 47613996 VAR_043776 + P43246:p.Glu647Lys chr2 47614020 47614023 VAR_043777 + P43246:p.Tyr656His chr2 47614032 47614035 VAR_022671 + P43246:p.Asp660Gly chr2 47615158 47615161 VAR_038027 + P43246:p.Pro670Leu chr2 47615161 47615164 VAR_043778 + P43246:p.Asn671Tyr chr2 47615170 47615173 VAR_004485 + P43246:p.Gly674Ser chr2 47615185 47615188 VAR_043779 + P43246:p.Ile679Thr chr2 47615212 47615215 VAR_012945 + P43246:p.Met688Ile chr2 47615224 47615227 VAR_009250 + P43246:p.Gly692Arg chr2 47615239 47615242 VAR_004486 + P43246:p.Cys697Phe chr2 47615239 47615242 VAR_009251 + P43246:p.Cys697Arg chr2 47615290 47615293 VAR_043780 + P43246:p.Ala714Val chr2 47615317 47615320 VAR_043781 + P43246:p.Ser723Phe chr2 47615335 47615338 VAR_043782 + P43246:p.Met729Val chr2 47615344 47615347 VAR_043783 + P43246:p.Thr732Ile chr2 47617083 47617089 VAR_043784 + P43246:p.745_746del chr2 47617095 47617098 VAR_043785 + P43246:p.Glu749Lys chr2 47617158 47617161 VAR_004487 + P43246:p.Ile770Val chr2 47617185 47617188 VAR_038028 + P43246:p.Met779Ile chr2 47617269 47617272 VAR_038029 + P43246:p.Thr807Ser chr2 47617287 47617290 VAR_043786 + P43246:p.Met813Val chr2 47619496 47619499 VAR_043787 + P43246:p.Gln824Glu chr2 47619526 47619529 VAR_004488 + P43246:p.Ala834Thr chr2 47619529 47619532 VAR_038030 + P43246:p.Asn835His chr2 47619541 47619544 VAR_043788 + P43246:p.His839Arg chr2 47619559 47619562 VAR_013172 + P43246:p.Lys845Glu chr2 47619583 47619586 VAR_043789 + P43246:p.Glu853Ala chr2 47619628 47619631 VAR_043790 + P43246:p.Pro868Ala chr2 47619634 47619637 VAR_043791 + P43246:p.Ala870Gly chr2 47619643 47619646 VAR_043792 + P43246:p.Cys873Gly chr2 47621589 47621592 VAR_043793 + P43246:p.Glu886Gly chr2 47621646 47621649 VAR_004489 + P43246:p.Thr905Arg chr2 47621664 47621667 VAR_038031 + P43246:p.Leu911Arg chr2 47621700 47621703 VAR_043794 + P43246:p.Val923Glu chr2 47621724 47621727 VAR_043795 + P43246:p.Lys931Thr chr5 79986470 79986497 VAR_020934 + P20585:p.57_65del chr5 79986485 79986488 VAR_020935 + P20585:p.Ala62Ala chr5 80100449 80100452 VAR_016160 + P20585:p.Phe709Leu chr5 80204719 80204722 VAR_016163 + P20585:p.Thr1054Ala chr1 75974868 75974871 VAR_018831 + O15457:p.Ala60Val chr1 75981459 75981462 VAR_018832 + O15457:p.Ala90Thr chr1 75981480 75981483 VAR_018833 + O15457:p.Ala97Thr chr1 75984742 75984745 VAR_018834 + O15457:p.Glu162Lys chr1 76057842 76057845 VAR_018835 + O15457:p.Tyr589Cys chr1 76090521 76090524 VAR_018836 + O15457:p.Ser914Asn chr6 31816306 31816309 VAR_025082 + O43196:p.Pro29Ser chr6 31817023 31817026 VAR_025083 + O43196:p.Leu85Phe chr6 31820011 31820014 VAR_025084 + O43196:p.Tyr202Cys chr6 31820023 31820026 VAR_025085 + O43196:p.Val206Phe chr6 31833956 31833959 VAR_025086 + O43196:p.Arg351Gly chr6 31834034 31834037 VAR_025087 + O43196:p.Leu377Phe chr2 47922059 47922062 VAR_038032 + P52701:p.Lys13Thr chr2 47922080 47922083 VAR_043943 + P52701:p.Ala20Val chr2 47922095 47922098 VAR_038033 + P52701:p.Ala25Val chr2 47922137 47922140 VAR_004490 + P52701:p.Gly39Glu chr2 47922182 47922185 VAR_043944 + P52701:p.Gly54Ala chr2 47922215 47922218 VAR_038034 + P52701:p.Ser65Leu chr2 47929750 47929753 VAR_043945 + P52701:p.Lys99Asn chr2 47929837 47929840 VAR_043946 + P52701:p.Arg128Leu chr2 47929885 47929888 VAR_012955 + P52701:p.Ser144Ile chr2 47937430 47937433 VAR_012956 + P52701:p.Glu220Asp chr2 47937433 47937436 VAR_042274 + P52701:p.Glu221Asp chr2 47937625 47937628 VAR_012957 + P52701:p.Ser285Ile chr2 47937655 47937658 VAR_043947 + P52701:p.Lys295Arg chr2 47937790 47937793 VAR_043948 + P52701:p.Phe340Ser chr2 47937958 47937961 VAR_012958 + P52701:p.Leu396Val chr2 47938117 47938120 VAR_043949 + P52701:p.Leu449Pro chr2 47938174 47938177 VAR_038035 + P52701:p.Arg468His chr2 47938246 47938249 VAR_042275 + P52701:p.Met492Val chr2 47938279 47938282 VAR_038036 + P52701:p.Ser503Cys chr2 47938297 47938300 VAR_043950 + P52701:p.Val509Ala chr2 47938336 47938339 VAR_043951 + P52701:p.Gln522Arg chr2 47938384 47938387 VAR_038037 + P52701:p.Tyr538Ser chr2 47938468 47938471 VAR_012959 + P52701:p.Gly566Arg chr2 47938510 47938513 VAR_038038 + P52701:p.Ser580Leu chr2 47938627 47938630 VAR_043952 + P52701:p.Glu619Asp chr2 47938639 47938642 VAR_029244 + P52701:p.Pro623Ala chr2 47938639 47938642 VAR_043953 + P52701:p.Pro623Leu chr2 47938825 47938828 VAR_043954 + P52701:p.Gly685Ala chr2 47938864 47938867 VAR_012960 + P52701:p.Gln698Glu chr2 47938945 47938948 VAR_043955 + P52701:p.Ile725Met chr2 47938954 47938957 VAR_043956 + P52701:p.Lys728Thr chr2 47939086 47939089 VAR_043957 + P52701:p.Arg772Gln chr2 47939086 47939089 VAR_043958 + P52701:p.Arg772Trp chr2 47939131 47939134 VAR_043959 + P52701:p.Ala787Val chr2 47939170 47939173 VAR_043960 + P52701:p.Val800Ala chr2 47939170 47939173 VAR_012961 + P52701:p.Val800Leu chr2 47939179 47939182 VAR_012962 + P52701:p.Asp803Gly chr2 47939320 47939323 VAR_012963 + P52701:p.Tyr850Cys chr2 47939332 47939335 VAR_043961 + P52701:p.Lys854Met chr2 47939404 47939407 VAR_012964 + P52701:p.Val878Ala chr2 47939428 47939431 VAR_014902 + P52701:p.Ile886Val chr2 47939473 47939476 VAR_043962 + P52701:p.Arg901His chr2 47939698 47939701 VAR_012965 + P52701:p.Arg976His chr2 47939833 47939836 VAR_043963 + P52701:p.Ala1021Asp chr2 47939863 47939866 VAR_043964 + P52701:p.Asp1031Val chr2 47942262 47942265 VAR_043965 + P52701:p.Arg1076Cys chr2 47942295 47942298 VAR_012966 + P52701:p.Pro1087Thr chr2 47942319 47942322 VAR_043966 + P52701:p.Arg1095His chr2 47942334 47942337 VAR_043967 + P52701:p.Thr1100Met chr2 47943732 47943735 VAR_043968 + P52701:p.Cys1158Arg chr2 47943747 47943750 VAR_043969 + P52701:p.Glu1163Val chr2 47944427 47944430 VAR_043970 + P52701:p.Glu1193Lys chr2 47944487 47944490 VAR_004491 + P52701:p.Asp1213Val chr2 47945001 47945004 VAR_043971 + P52701:p.Thr1219Ile chr2 47945040 47945043 VAR_038039 + P52701:p.Val1232Leu chr2 47945046 47945049 VAR_038040 + P52701:p.Glu1234Gln chr2 47945088 47945091 VAR_043972 + P52701:p.His1248Asp chr2 47945124 47945127 VAR_004492 + P52701:p.Val1260Ile chr2 47945289 47945292 VAR_043973 + P52701:p.Thr1284Met chr2 47945400 47945403 VAR_038041 + P52701:p.Arg1321Gly chr2 47945626 47945629 VAR_043974 + P52701:p.Leu1354Gln chr12 119258392 119258395 VAR_035485 - O43347:p.Glu160Gln chr16 754057 754060 VAR_028381 + Q13421:p.Ala72Val chr16 756088 756091 VAR_028382 + Q13421:p.Arg309Pro chr16 758559 758562 VAR_028383 + Q13421:p.Met601Val chr10 51225781 51225784 VAR_011935 + P08118:p.Leu17Ser chr10 51225805 51225808 VAR_011936 + P08118:p.Ile25Met chr10 51226800 51226803 VAR_011937 + P08118:p.Trp52Arg chr10 51226803 51226806 VAR_011938 + P08118:p.Gln53Arg chr10 51232298 51232301 VAR_011939 + P08118:p.Asp80Ala chr10 51232319 51232322 VAR_011940 + P08118:p.Ile87Thr chr10 51232331 51232334 VAR_011941 + P08118:p.Glu91Gly chr10 51232334 51232337 VAR_011942 + P08118:p.Asp92Gly chr10 51232352 51232355 VAR_011943 + P08118:p.Val98Leu chrX 133758680 133758683 VAR_036601 - Q9UJG1:p.Val63Ile chrX 14689030 14689033 VAR_034109 + Q8NHP6:p.Ser240Asn chr8 16079799 16079802 VAR_025190 - P21757:p.Phe23Cys chr8 16057016 16057019 VAR_025191 - P21757:p.Pro275Ala chr18 46587200 46587203 VAR_027261 - Q9BYG7:p.Arg39Ser chr18 46585548 46585551 VAR_027262 - Q9BYG7:p.Thr134Ala chr4 4979968 4979971 VAR_018392 + P28360:p.Gly91Asp chr4 4980043 4980046 VAR_018394 + P28360:p.Gly116Glu chr16 55224781 55224784 VAR_025310 + Q8N339:p.Thr20Lys chr16 55200704 55200707 VAR_025840 + P02795:p.Ala42Val chr16 55160297 55160300 VAR_034112 + P47944:p.Gly48Asp chr2 241759185 241759188 VAR_028865 - Q7Z6M4:p.Thr45Ala chr2 241756785 241756788 VAR_028866 - Q7Z6M4:p.Met189Thr chr2 241755531 241755534 VAR_028867 - Q7Z6M4:p.Leu339Val chr2 241755507 241755510 VAR_028868 - Q7Z6M4:p.Asp347Glu chr2 241755414 241755417 VAR_028869 - Q7Z6M4:p.Asp378Glu chr12 105874917 105874920 VAR_034113 - Q49AM1:p.Leu14Val chr12 105874716 105874719 VAR_034114 - Q49AM1:p.Ala81Gly chr7 91147876 91147879 VAR_024237 - Q99551:p.Ala294Thr chr8 93067648 93067651 VAR_036321 - Q06455:p.Arg386Trp chr8 93067621 93067624 VAR_036322 - Q06455:p.Arg395Trp chr8 93052187 93052190 VAR_036323 - Q06455:p.Ala471Val chr15 77924612 77924615 VAR_034115 - P49914:p.Thr202Ala chr1 11797286 11797289 VAR_009530 - P42898:p.Arg51Pro chr1 11797283 11797286 VAR_004319 - P42898:p.Arg52Gln chr1 11797235 11797238 VAR_014881 - P42898:p.Arg68Gln chr1 11795487 11795490 VAR_004320 - P42898:p.Arg157Gln chr1 11790642 11790645 VAR_009528 - P42898:p.Ala222Val chr1 11790627 11790630 VAR_004321 - P42898:p.Thr227Met chr1 11790555 11790558 VAR_004322 - P42898:p.Pro251Leu chr1 11789482 11789485 VAR_009531 - P42898:p.Leu323Pro chr1 11789479 11789482 VAR_009532 - P42898:p.Asn324Ser chr1 11789476 11789479 VAR_004323 - P42898:p.Arg325Cys chr1 11789446 11789449 VAR_004324 - P42898:p.Arg335Cys chr1 11789434 11789437 VAR_009533 - P42898:p.Trp339Gly chr1 11789146 11789149 VAR_004325 - P42898:p.Arg357Cys chr1 11789086 11789089 VAR_009534 - P42898:p.Arg377Cys chr1 11789056 11789059 VAR_009535 - P42898:p.Gly387Asp chr1 11788761 11788764 VAR_018857 - P42898:p.Gly422Arg chr1 11788743 11788746 VAR_009529 - P42898:p.Glu428Ala chr1 11788740 11788743 VAR_014882 - P42898:p.Glu429Ala chr1 11786675 11786678 VAR_018858 - P42898:p.Arg519Cys chr1 11785565 11785568 VAR_009536 - P42898:p.Pro572Leu chr1 11785215 11785218 VAR_009537 - P42898:p.Glu586Lys chr1 11785191 11785194 VAR_018859 - P42898:p.Arg594Gln chr1 11785014 11785017 VAR_018860 - P42898:p.Thr653Met chr16 85143241 85143244 VAR_033373 - Q2M296:p.Leu45Val chr16 85123381 85123384 VAR_033374 - Q2M296:p.Ser296Cys chrX 149437625 149437628 VAR_006386 + Q13496:p.47del chrX 149437631 149437634 VAR_018227 + Q13496:p.Val49Phe chrX 149437688 149437691 VAR_018228 + Q13496:p.Tyr68Asp chrX 149437691 149437694 VAR_006387 + Q13496:p.Arg69Cys chrX 149437691 149437694 VAR_018229 + Q13496:p.Arg69Pro chrX 149437691 149437694 VAR_018230 + Q13496:p.Arg69Ser chrX 149437694 149437697 VAR_006388 + Q13496:p.Leu70Phe chrX 149453656 149453659 VAR_006389 + Q13496:p.Leu87Pro chrX 149478007 149478010 VAR_018231 + Q13496:p.Glu157Lys chrX 149480315 149480318 VAR_009217 + Q13496:p.Pro179Ser chrX 149480318 149480321 VAR_018232 + Q13496:p.Asn180Lys chrX 149480330 149480333 VAR_006390 + Q13496:p.Arg184Gly chrX 149480330 149480333 VAR_018233 + Q13496:p.Arg184Leu chrX 149480336 149480339 VAR_018234 + Q13496:p.Thr186Ile chrX 149480345 149480348 VAR_006391 + Q13496:p.Asn189Ser chrX 149480369 149480372 VAR_018235 + Q13496:p.Thr197Ile chrX 149480372 149480375 VAR_006392 + Q13496:p.Tyr198Asn chrX 149480375 149480378 VAR_018236 + Q13496:p.Pro199Ser chrX 149480384 149480387 VAR_018237 + Q13496:p.Leu202Ser chrX 149480393 149480396 VAR_006393 + Q13496:p.Pro205Leu chrX 149480453 149480456 VAR_009218 + Q13496:p.Ile225Thr chrX 149480456 149480459 VAR_018238 + Q13496:p.Pro226Thr chrX 149484723 149484726 VAR_018239 + Q13496:p.Val227Met chrX 149484726 149484729 VAR_018240 + Q13496:p.Leu228Pro chrX 149484729 149484732 VAR_006394 + Q13496:p.Ser229Pro chrX 149484732 149484735 VAR_018241 + Q13496:p.Trp230Cys chrX 149484738 149484741 VAR_018242 + Q13496:p.His232Arg chrX 149484765 149484768 VAR_006395 + Q13496:p.Arg241Cys chrX 149484765 149484768 VAR_006396 + Q13496:p.Arg241Leu chrX 149484834 149484837 VAR_009219 + Q13496:p.Ile264Ser chrX 149484879 149484882 VAR_018243 + Q13496:p.Ala279Gly chrX 149488768 149488771 VAR_009220 + Q13496:p.294del chrX 149488837 149488840 VAR_006397 + Q13496:p.Met317Arg chrX 149488924 149488927 VAR_018244 + Q13496:p.Trp346Cys chrX 149488924 149488927 VAR_018245 + Q13496:p.Trp346Ser chrX 149496897 149496900 VAR_018246 + Q13496:p.Val364Gly chrX 149496927 149496930 VAR_018247 + Q13496:p.His374Asp chrX 149496933 149496936 VAR_006398 + Q13496:p.Ser376Asn chrX 149496939 149496942 VAR_018248 + Q13496:p.Gly378Glu chrX 149496939 149496942 VAR_006399 + Q13496:p.Gly378Arg chrX 149496972 149496975 VAR_018249 + Q13496:p.Ala389Asp chrX 149496978 149496981 VAR_018250 + Q13496:p.Leu391Pro chrX 149496996 149496999 VAR_006400 + Q13496:p.Tyr397Cys chrX 149497011 149497014 VAR_006401 + Q13496:p.Gly402Ala chrX 149497011 149497014 VAR_018251 + Q13496:p.Gly402Arg chrX 149497011 149497014 VAR_018252 + Q13496:p.Gly402Val chrX 149497017 149497020 VAR_006402 + Q13496:p.Glu404Lys chrX 149497023 149497026 VAR_006403 + Q13496:p.Leu406Pro chrX 149497038 149497041 VAR_018253 + Q13496:p.Trp411Cys chrX 149497065 149497068 VAR_009221 + Q13496:p.Ser420Ser chrX 149498704 149498707 VAR_006404 + Q13496:p.Arg421Gln chrX 149498704 149498707 VAR_006405 + Q13496:p.Arg421Arg chrX 149498734 149498737 VAR_006406 + Q13496:p.Asp431Asn chrX 149498740 149498743 VAR_006407 + Q13496:p.Asp433Asn chrX 149498773 149498776 VAR_018254 + Q13496:p.Cys444Tyr chrX 149499462 149499465 VAR_006408 + Q13496:p.His469Pro chrX 149499465 149499468 VAR_018255 + Q13496:p.Leu470Pro chrX 149499498 149499501 VAR_018256 + Q13496:p.Asn481Tyr chrX 149502500 149502503 VAR_006409 + Q13496:p.Trp499Arg chrX 149502533 149502536 VAR_009222 + Q13496:p.Lys510Asn chr22 28723525 28723528 VAR_035656 + Q13615:p.Val221Leu chr17 53939504 53939507 VAR_035111 - Q9NYA4:p.Ser280Gly chr17 53939202 53939205 VAR_035112 - Q9NYA4:p.Val297Gly chr3 9701309 9701312 VAR_033370 + Q8NCE2:p.Arg336Gln chr3 9705716 9705719 VAR_033371 + Q8NCE2:p.Tyr462Cys chr15 28984854 28984857 VAR_037167 + Q9Y2M0:p.Gly233Glu chr4 187851506 187851509 VAR_009260 - P48039:p.Arg54Trp chr4 187830573 187830576 VAR_009261 - P48039:p.Ala157Val chr11 92342608 92342611 VAR_009262 + P49286:p.Gly24Glu chr11 92342734 92342737 VAR_009263 + P49286:p.Leu66Phe chr8 17657371 17657374 VAR_035173 - Q9ULD2:p.Gln75Lys chr8 17657152 17657155 VAR_035174 - Q9ULD2:p.Cys148Arg chr8 17657038 17657041 VAR_035175 - Q9ULD2:p.Thr186Ser chr8 17656321 17656324 VAR_035176 - Q9ULD2:p.Thr425Met chr8 17656237 17656240 VAR_035177 - Q9ULD2:p.Lys453Thr chr8 17655907 17655910 VAR_035178 - Q9ULD2:p.Ala563Ser chr8 17655871 17655874 VAR_035179 - Q9ULD2:p.His575Arg chr11 26543429 26543432 VAR_019376 - Q8N387:p.Ile184Thr chr11 26543375 26543378 VAR_019377 - Q8N387:p.Thr202Ile chr11 609692 609695 VAR_017921 - Q9HBB8:p.Asp389Asn chr12 53536855 53536879 VAR_025700 + Q96DR8:p.46_53del chr11 65384908 65384911 VAR_025340 + Q96NY9:p.Arg37His chr11 65386508 65386511 VAR_038521 + Q96NY9:p.Arg180Pro chr11 65386535 65386538 VAR_021990 + Q96NY9:p.Leu189Phe chr11 65387936 65387939 VAR_038522 + Q96NY9:p.Arg350Trp chr11 65389305 65389308 VAR_025341 + Q96NY9:p.Gln481His chr9 110510817 110510818 VAR_041748 + O15146:p.Ala27Gly chr9 110524508 110524510 VAR_041748 + O15146:p.Ala27Gly chr9 110529042 110529045 VAR_041749 + O15146:p.Thr100Met chr9 110529063 110529066 VAR_041750 + O15146:p.Gly107Glu chr9 110537353 110537356 VAR_041751 + O15146:p.Ser159Gly chr9 110576120 110576123 VAR_041752 + O15146:p.Asn222Ser chr9 110617674 110617677 VAR_021930 + O15146:p.Met413Ile chr9 110629630 110629633 VAR_041753 + O15146:p.Leu629Phe chr9 110642142 110642145 VAR_041754 + O15146:p.Val644Ala chr9 110642202 110642205 VAR_041755 + O15146:p.Asn664Ser chr9 110642298 110642301 VAR_041756 + O15146:p.Pro696Leu chr9 110642556 110642559 VAR_041757 + O15146:p.Glu782Asp chr9 110642580 110642583 VAR_023046 + O15146:p.Val790Met chr9 110642667 110642670 VAR_041758 + O15146:p.Asn819Ser chr9 110642697 110642700 VAR_033837 + O15146:p.Val829Leu chr9 110642784 110642787 VAR_041759 + O15146:p.Arg858His chr6 49534931 49534934 VAR_023472 - P22033:p.Ile69Val chr6 49534880 49534883 VAR_026592 - P22033:p.Pro86Leu chr6 49534877 49534880 VAR_026593 - P22033:p.Gly87Glu chr6 49534859 49534862 VAR_004409 - P22033:p.Arg93His chr6 49534856 49534859 VAR_026594 - P22033:p.Gly94Arg chr6 49534856 49534859 VAR_022393 - P22033:p.Gly94Val chr6 49534853 49534856 VAR_026595 - P22033:p.Pro95Arg chr6 49534823 49534826 VAR_004410 - P22033:p.Trp105Arg chr6 49534814 49534817 VAR_026596 - P22033:p.Arg108Cys chr6 49534814 49534817 VAR_026597 - P22033:p.Arg108Gly chr6 49534814 49534817 VAR_022394 - P22033:p.Arg108His chr6 49534811 49534814 VAR_023473 - P22033:p.Gln109Arg chr6 49533704 49533707 VAR_022395 - P22033:p.Ala137Val chr6 49533680 49533683 VAR_026598 - P22033:p.Gly145Ser chr6 49533671 49533674 VAR_022396 - P22033:p.Ser148Leu chr6 49533647 49533650 VAR_022397 - P22033:p.Asp156Asn chr6 49533641 49533644 VAR_022398 - P22033:p.Gly158Val chr6 49533593 49533596 VAR_022399 - P22033:p.Phe174Ser chr6 49533557 49533560 VAR_026599 - P22033:p.Met186Val chr6 49533548 49533551 VAR_026600 - P22033:p.Asn189Lys chr6 49533542 49533545 VAR_004411 - P22033:p.Ala191Glu chr6 49533524 49533527 VAR_026601 - P22033:p.Ala197Glu chr6 49533506 49533509 VAR_022400 - P22033:p.Gly203Arg chr6 49533470 49533473 VAR_026602 - P22033:p.Gly215Cys chr6 49533470 49533473 VAR_022401 - P22033:p.Gly215Ser chr6 49533461 49533464 VAR_022402 - P22033:p.Gln218His chr6 49533458 49533461 VAR_022403 - P22033:p.Asn219Tyr chr6 49533431 49533434 VAR_004412 - P22033:p.Arg228Gln chr6 49533425 49533428 VAR_026603 - P22033:p.Thr230Ile chr6 49533422 49533425 VAR_004413 - P22033:p.Tyr231Asn chr6 49531876 49531879 VAR_022404 - P22033:p.Ser262Asn chr6 49531867 49531870 VAR_026604 - P22033:p.His265Tyr chr6 49531819 49531822 VAR_026605 - P22033:p.Leu281Ser chr6 49531789 49531792 VAR_026606 - P22033:p.Gly291Glu chr6 49531783 49531786 VAR_022405 - P22033:p.Gln293Pro chr6 49529424 49529427 VAR_026607 - P22033:p.Leu305Ser chr6 49529421 49529424 VAR_026608 - P22033:p.Ser306Phe chr6 49529403 49529406 VAR_004414 - P22033:p.Gly312Val chr6 49529391 49529394 VAR_026609 - P22033:p.Tyr316Cys chr6 49529367 49529370 VAR_023474 - P22033:p.Ala324Thr chr6 49529355 49529358 VAR_022406 - P22033:p.Leu328Phe chr6 49529355 49529358 VAR_023475 - P22033:p.Leu328Pro chr6 49529301 49529304 VAR_004415 - P22033:p.346del chr6 49529298 49529301 VAR_026610 - P22033:p.Leu347Arg chr6 49529289 49529292 VAR_026611 - P22033:p.His350Tyr chr6 49527365 49527368 VAR_004416 - P22033:p.Val368Asp chr6 49527362 49527365 VAR_026612 - P22033:p.Arg369Cys chr6 49527362 49527365 VAR_004417 - P22033:p.Arg369His chr6 49527359 49527362 VAR_026613 - P22033:p.Thr370Pro chr6 49527338 49527341 VAR_004418 - P22033:p.Ala377Glu chr6 49527320 49527323 VAR_026614 - P22033:p.Gln383His chr6 49527320 49527323 VAR_026615 - P22033:p.Gln383Pro chr6 49527311 49527314 VAR_026616 - P22033:p.His386Asn chr6 49527305 49527308 VAR_026617 - P22033:p.Asn388His chr6 49527302 49527305 VAR_026618 - P22033:p.389del chr6 49527233 49527236 VAR_026619 - P22033:p.412del chr6 49527191 49527194 VAR_026620 - P22033:p.Gly426Arg chr6 49527188 49527191 VAR_026621 - P22033:p.Gly427Asp chr6 49523404 49523407 VAR_022407 - P22033:p.Ala499Thr chr6 49523347 49523350 VAR_026622 - P22033:p.Leu518Pro chr6 49520390 49520393 VAR_004419 - P22033:p.Arg532His chr6 49520381 49520384 VAR_022408 - P22033:p.Ala535Pro chr6 49517639 49517642 VAR_026623 - P22033:p.Cys560Tyr chr6 49517621 49517624 VAR_026624 - P22033:p.Thr566Arg chr6 49517600 49517603 VAR_026625 - P22033:p.Phe573Ser chr6 49517558 49517561 VAR_022409 - P22033:p.Tyr587Cys chr6 49517525 49517528 VAR_030495 - P22033:p.Thr598Ala chr6 49515988 49515991 VAR_026626 - P22033:p.Pro615Arg chr6 49515988 49515991 VAR_022410 - P22033:p.Pro615Thr chr6 49515985 49515988 VAR_023476 - P22033:p.Arg616Cys chr6 49515982 49515985 VAR_023477 - P22033:p.Leu617Arg chr6 49515970 49515973 VAR_022411 - P22033:p.Lys621Asn chr6 49515964 49515967 VAR_004420 - P22033:p.Gly623Arg chr6 49515961 49515964 VAR_022412 - P22033:p.Gln624Arg chr6 49515955 49515958 VAR_004421 - P22033:p.Gly626Cys chr6 49515952 49515955 VAR_022413 - P22033:p.His627Arg chr6 49515943 49515946 VAR_004422 - P22033:p.Gly630Glu chr6 49515934 49515937 VAR_004423 - P22033:p.Val633Gly chr6 49515922 49515925 VAR_022414 - P22033:p.Gly637Glu chr6 49515922 49515925 VAR_026627 - P22033:p.Gly637Arg chr6 49515919 49515922 VAR_022415 - P22033:p.Phe638Ile chr6 49515913 49515916 VAR_022416 - P22033:p.Asp640Tyr chr6 49515907 49515910 VAR_022417 - P22033:p.Gly642Arg chr6 49515889 49515892 VAR_004424 - P22033:p.Gly648Asp chr6 49511244 49511247 VAR_004425 - P22033:p.Val669Glu chr6 49511217 49511220 VAR_004427 - P22033:p.His678Arg chr6 49511199 49511202 VAR_004428 - P22033:p.Glu684Glu chr6 49511196 49511199 VAR_004429 - P22033:p.Leu685Arg chr6 49511169 49511172 VAR_004430 - P22033:p.Arg694Trp chr6 49511151 49511154 VAR_022418 - P22033:p.Met700Lys chr6 49511142 49511145 VAR_004431 - P22033:p.Gly703Arg chr6 49507501 49507504 VAR_004432 - P22033:p.Gly717Val chr1 45469246 45469249 VAR_018872 - Q9UIF7:p.Val22Met chr1 45468053 45468056 VAR_026045 - Q9UIF7:p.Tyr125His chr1 45467930 45467933 VAR_026046 - Q9UIF7:p.Trp128Arg chr1 45467566 45467569 VAR_018873 - Q9UIF7:p.Tyr176Cys chr1 45467557 45467560 VAR_026047 - Q9UIF7:p.Arg179His chr1 45467220 45467223 VAR_026048 - Q9UIF7:p.Arg238Trp chr1 45466597 45466600 VAR_018874 - Q9UIF7:p.Gln335His chr1 45466292 45466295 VAR_026049 - Q9UIF7:p.Pro402Ser chr1 45466265 45466268 VAR_026050 - Q9UIF7:p.Gln411Arg chr1 45465289 45465292 VAR_018876 - Q9UIF7:p.Gly500Glu chr1 45464175 45464178 VAR_026051 - Q9UIF7:p.Ser512Phe chr1 45464133 45464136 VAR_018877 - Q9UIF7:p.Leu526Met chr1 45464118 45464121 VAR_018878 - Q9UIF7:p.Arg531Gln chr21 41739805 41739808 VAR_034116 + P20591:p.Ala381Val chr21 41752396 41752399 VAR_034117 + P20591:p.Gln611His chr10 112029763 112029766 VAR_004499 + P50539:p.Glu152Ala chrX 3222011 3222014 VAR_028821 - Q9NR99:p.Leu2531Val chr17 24462593 24462596 VAR_030585 - Q92614:p.Ala958Val chr22 24641912 24641915 VAR_015874 + Q8IUG5:p.Glu1715Asp chr20 41764870 41764873 VAR_020422 + P10244:p.Ser427Gly chr1 199876396 199876399 VAR_028181 - Q13203:p.Gln48His chr1 199876393 199876396 VAR_028182 - Q13203:p.Ala49Gly chr13 76598459 76598462 VAR_030070 - O75592:p.Val2588Met chr2 16036598 16036601 VAR_031952 + P04198:p.Arg393His chr2 16036598 16036601 VAR_031953 + P04198:p.Arg393Ser chr2 16036601 16036604 VAR_031954 + P04198:p.Arg394His chr15 63817286 63817289 VAR_025362 - Q7Z401:p.Leu284Pro chr6 153135148 153135151 VAR_037115 + Q8N699:p.Gly119Ser chr6 153135172 153135175 VAR_037116 + Q8N699:p.Arg127Gly chr12 79604233 79604236 VAR_004493 + P23409:p.Ala90Asp chr12 79604299 79604302 VAR_004494 + P23409:p.Ala112Ser chr22 34331583 34331586 VAR_003180 - P02144:p.Glu55Lys chr22 34327906 34327909 VAR_003181 - P02144:p.Lys134Asn chr22 34327888 34327891 VAR_003182 - P02144:p.Arg140Gln chr22 34327888 34327891 VAR_003183 - P02144:p.Arg140Trp chr16 15728361 15728364 VAR_030239 - P35749:p.Ala1234Thr chr16 15728271 15728343 VAR_031734 - P35749:p.1241_1264del chr16 15726341 15726344 VAR_030240 - P35749:p.Val1289Ala chr16 15726278 15726281 VAR_030241 - P35749:p.Val1310Met chr16 15719693 15719696 VAR_031735 - P35749:p.Arg1758Gln chr17 10177186 10177189 VAR_030231 - Q9UKX3:p.Gly701Arg chr17 10164436 10164439 VAR_024543 - Q9UKX3:p.Met1071Val chr17 10159836 10159839 VAR_030233 - Q9UKX3:p.Arg1294Gln chr3 109672315 109672318 VAR_030235 - Q9Y2K3:p.Arg454Gln chr3 109642665 109642668 VAR_030237 - Q9Y2K3:p.Thr949Ile chr3 109630415 109630418 VAR_030238 - Q9Y2K3:p.Thr1125Ala chr17 10491420 10491423 VAR_030371 - P11055:p.Ser261Phe chr17 10491245 10491248 VAR_030372 - P11055:p.Ser292Cys chr17 10489764 10489767 VAR_030373 - P11055:p.Glu375Lys chr17 10486954 10486957 VAR_030374 - P11055:p.Glu498Gly chr17 10486897 10486900 VAR_030375 - P11055:p.Asp517Tyr chr17 10486597 10486600 VAR_030376 - P11055:p.Tyr583Ser chr17 10485357 10485360 VAR_030377 - P11055:p.Arg672Cys chr17 10485357 10485360 VAR_030378 - P11055:p.Arg672His chr17 10484493 10484496 VAR_030379 - P11055:p.Gly769Val chr17 10484244 10484247 VAR_030380 - P11055:p.Val825Asp chr17 10484205 10484208 VAR_030381 - P11055:p.Lys838Glu chr17 10484196 10484199 VAR_030382 - P11055:p.841del chr17 10482402 10482405 VAR_030196 - P11055:p.Arg1137Cys chr17 10476607 10476610 VAR_030383 - P11055:p.Asp1622Ala chr17 10476562 10476565 VAR_030384 - P11055:p.Ala1637Val chr17 10301576 10301579 VAR_030198 - Q9Y623:p.Ala594Thr chr17 10298638 10298641 VAR_022110 - Q9Y623:p.Thr883Met chr17 10296369 10296372 VAR_030200 - Q9Y623:p.Ala1117Asp chr14 22935412 22935415 VAR_030204 - P13533:p.Leu783Met chr14 22935376 22935379 VAR_031882 - P13533:p.Arg795Gln chr14 22933341 22933344 VAR_031883 - P13533:p.Ile820Asn chr14 22924042 22924045 VAR_030206 - P13533:p.Thr1737Ser chr14 22972772 22972775 VAR_029430 - P12883:p.Asp3Ala chr14 22972703 22972706 VAR_004566 - P12883:p.Ala26Val chr14 22972664 22972667 VAR_019845 - P12883:p.Val39Met chr14 22972604 22972607 VAR_004567 - P12883:p.Val59Ile chr14 22972156 22972159 VAR_017745 - P12883:p.Asp107Glu chr14 22972132 22972135 VAR_042762 - P12883:p.Tyr115His chr14 22971817 22971820 VAR_020797 - P12883:p.Thr124Ile chr14 22971760 22971763 VAR_042763 - P12883:p.Arg143Gly chr14 22971760 22971763 VAR_004568 - P12883:p.Arg143Gln chr14 22971760 22971763 VAR_029431 - P12883:p.Arg143Trp chr14 22971751 22971754 VAR_042764 - P12883:p.Lys146Asn chr14 22971745 22971748 VAR_042765 - P12883:p.Ser148Ile chr14 22971703 22971706 VAR_020798 - P12883:p.Tyr162Cys chr14 22970890 22970893 VAR_042766 - P12883:p.Val186Leu chr14 22970887 22970890 VAR_020799 - P12883:p.Asn187Lys chr14 22970884 22970887 VAR_019846 - P12883:p.Thr188Asn chr14 22970878 22970881 VAR_020800 - P12883:p.Arg190Thr chr14 22970860 22970863 VAR_042767 - P12883:p.Ala196Thr chr14 22970845 22970848 VAR_042768 - P12883:p.Ile201Thr chr14 22970836 22970839 VAR_019847 - P12883:p.Arg204His chr14 22970827 22970830 VAR_042769 - P12883:p.Lys207Gln chr14 22970815 22970818 VAR_042770 - P12883:p.Pro211Leu chr14 22970699 22970702 VAR_020801 - P12883:p.Gln222Lys chr14 22970696 22970699 VAR_017746 - P12883:p.Ala223Thr chr14 22970684 22970687 VAR_042771 - P12883:p.Leu227Val chr14 22970669 22970672 VAR_019848 - P12883:p.Asn232Ser chr14 22970633 22970636 VAR_020802 - P12883:p.Phe244Leu chr14 22970515 22970518 VAR_004569 - P12883:p.Arg249Gln chr14 22970494 22970497 VAR_004570 - P12883:p.Gly256Glu chr14 22970473 22970476 VAR_042772 - P12883:p.Ile263Met chr14 22970473 22970476 VAR_004571 - P12883:p.Ile263Thr chr14 22969671 22969674 VAR_042773 - P12883:p.Phe312Cys chr14 22969647 22969650 VAR_020803 - P12883:p.Val320Met chr14 22969623 22969626 VAR_042774 - P12883:p.Glu328Gly chr14 22968914 22968917 VAR_004572 - P12883:p.Met349Thr chr14 22968908 22968911 VAR_042775 - P12883:p.Lys351Glu chr14 22968896 22968899 VAR_019849 - P12883:p.Ala355Thr chr14 22968385 22968388 VAR_042776 - P12883:p.Lys383Asn chr14 22968379 22968382 VAR_042777 - P12883:p.Ala385Val chr14 22968364 22968367 VAR_020804 - P12883:p.Leu390Val chr14 22968325 22968328 VAR_004573 - P12883:p.Arg403Leu chr14 22968325 22968328 VAR_004574 - P12883:p.Arg403Gln chr14 22968325 22968328 VAR_004575 - P12883:p.Arg403Trp chr14 22968322 22968325 VAR_042778 - P12883:p.Val404Leu chr14 22968322 22968325 VAR_042779 - P12883:p.Val404Met chr14 22968316 22968319 VAR_020805 - P12883:p.Val406Met chr14 22968313 22968316 VAR_042780 - P12883:p.Gly407Val chr14 22968301 22968304 VAR_029432 - P12883:p.Val411Ile chr14 22968298 22968301 VAR_042781 - P12883:p.Thr412Asn chr14 22968135 22968138 VAR_042782 - P12883:p.Gly425Arg chr14 22968126 22968129 VAR_019850 - P12883:p.Ala428Val chr14 22968120 22968123 VAR_029433 - P12883:p.Ala430Glu chr14 22968105 22968108 VAR_042783 - P12883:p.Met435Thr chr14 22968090 22968093 VAR_042784 - P12883:p.Val440Met chr14 22968087 22968090 VAR_042785 - P12883:p.Thr441Met chr14 22968081 22968084 VAR_019851 - P12883:p.Ile443Thr chr14 22968060 22968063 VAR_042786 - P12883:p.Lys450Glu chr14 22968060 22968063 VAR_042787 - P12883:p.Lys450Thr chr14 22968051 22968054 VAR_004576 - P12883:p.Arg453Cys chr14 22968051 22968054 VAR_042788 - P12883:p.Arg453His chr14 22968012 22968015 VAR_029434 - P12883:p.Glu466Gln chr14 22967689 22967692 VAR_019852 - P12883:p.Asn479Ser chr14 22967677 22967680 VAR_019853 - P12883:p.Glu483Lys chr14 22967629 22967632 VAR_020806 - P12883:p.Glu499Lys chr14 22967626 22967629 VAR_042789 - P12883:p.Glu500Ala chr14 22967623 22967626 VAR_042790 - P12883:p.Tyr501Cys chr14 22967593 22967596 VAR_042791 - P12883:p.Ile511Phe chr14 22967593 22967596 VAR_042792 - P12883:p.Ile511Thr chr14 22967587 22967590 VAR_004577 - P12883:p.Phe513Cys chr14 22967581 22967584 VAR_042793 - P12883:p.Met515Arg chr14 22967581 22967584 VAR_039562 - P12883:p.Met515Val chr14 22967575 22967578 VAR_029435 - P12883:p.Leu517Met chr14 22966925 22966928 VAR_017747 - P12883:p.Ser532Pro chr14 22966871 22966874 VAR_042794 - P12883:p.Ala550Val chr14 22966808 22966811 VAR_042795 - P12883:p.Gly571Arg chr14 22966793 22966796 VAR_042796 - P12883:p.His576Arg chr14 22966769 22966772 VAR_004578 - P12883:p.Gly584Arg chr14 22966769 22966772 VAR_029436 - P12883:p.Gly584Ser chr14 22966760 22966763 VAR_004579 - P12883:p.Asp587Val chr14 22966736 22966739 VAR_020807 - P12883:p.Gln595Arg chr14 22966718 22966721 VAR_020808 - P12883:p.Leu601Val chr14 22966715 22966718 VAR_004580 - P12883:p.Asn602Ser chr14 22966703 22966706 VAR_004581 - P12883:p.Val606Met chr14 22966676 22966679 VAR_004582 - P12883:p.Lys615Asn chr14 22966676 22966679 VAR_042797 - P12883:p.Lys615Gln chr14 22966318 22966321 VAR_017748 - P12883:p.Ser642Leu chr14 22965892 22965895 VAR_019854 - P12883:p.Met659Ile chr14 22965880 22965883 VAR_042798 - P12883:p.Arg663Cys chr14 22965880 22965883 VAR_019855 - P12883:p.Arg663His chr14 22965880 22965883 VAR_019856 - P12883:p.Arg663Ser chr14 22965856 22965859 VAR_019857 - P12883:p.Arg671Cys chr14 22965092 22965095 VAR_020809 - P12883:p.Arg694Cys chr14 22965092 22965095 VAR_029437 - P12883:p.Arg694His chr14 22965086 22965089 VAR_020810 - P12883:p.Asn696Ser chr14 22965080 22965083 VAR_042799 - P12883:p.Val698Ala chr14 22965038 22965041 VAR_020811 - P12883:p.Arg712Leu chr14 22965026 22965029 VAR_004583 - P12883:p.Gly716Arg chr14 22965017 22965020 VAR_017749 - P12883:p.Arg719Gln chr14 22965017 22965020 VAR_004584 - P12883:p.Arg719Trp chr14 22964860 22964863 VAR_004585 - P12883:p.Arg723Cys chr14 22964860 22964863 VAR_020812 - P12883:p.Arg723Gly chr14 22964845 22964848 VAR_017750 - P12883:p.Ala728Val chr14 22964836 22964839 VAR_004586 - P12883:p.Pro731Leu chr14 22964830 22964833 VAR_019858 - P12883:p.Gly733Glu chr14 22964827 22964830 VAR_029438 - P12883:p.Gln734Glu chr14 22964827 22964830 VAR_042800 - P12883:p.Gln734Pro chr14 22964821 22964824 VAR_004587 - P12883:p.Ile736Met chr14 22964821 22964824 VAR_029439 - P12883:p.Ile736Thr chr14 22964806 22964809 VAR_004588 - P12883:p.Gly741Arg chr14 22964806 22964809 VAR_004589 - P12883:p.Gly741Trp chr14 22964803 22964806 VAR_042801 - P12883:p.Ala742Glu chr14 22964800 22964803 VAR_014199 - P12883:p.Glu743Asp chr14 22964464 22964467 VAR_042802 - P12883:p.Val763Gly chr14 22964461 22964464 VAR_017751 - P12883:p.Phe764Leu chr14 22964449 22964452 VAR_019859 - P12883:p.Gly768Arg chr14 22964431 22964434 VAR_042803 - P12883:p.Glu774Val chr14 22964419 22964422 VAR_019860 - P12883:p.Asp778Glu chr14 22964419 22964422 VAR_004590 - P12883:p.Asp778Gly chr14 22964419 22964422 VAR_042804 - P12883:p.Asp778Val chr14 22964407 22964410 VAR_020813 - P12883:p.Ser782Asn chr14 22964392 22964395 VAR_019861 - P12883:p.Arg787His chr14 22964365 22964368 VAR_029440 - P12883:p.Leu796Phe chr14 22964362 22964365 VAR_004591 - P12883:p.Ala797Thr chr14 22964030 22964033 VAR_042805 - P12883:p.Met822Leu chr14 22964030 22964033 VAR_042806 - P12883:p.Met822Thr chr14 22964027 22964030 VAR_042807 - P12883:p.Gly823Glu chr14 22964024 22964027 VAR_029441 - P12883:p.Val824Ile chr14 22963958 22963961 VAR_020814 - P12883:p.Glu846Gln chr14 22963955 22963958 VAR_042808 - P12883:p.847del chr14 22963940 22963943 VAR_019862 - P12883:p.Met852Thr chr14 22963922 22963925 VAR_039563 - P12883:p.Arg858Cys chr14 22963922 22963925 VAR_042809 - P12883:p.Arg858His chr14 22963889 22963892 VAR_020815 - P12883:p.Arg869Cys chr14 22963889 22963892 VAR_019863 - P12883:p.Arg869Gly chr14 22963889 22963892 VAR_042810 - P12883:p.Arg869His chr14 22963886 22963889 VAR_020816 - P12883:p.Arg870Cys chr14 22963886 22963889 VAR_004592 - P12883:p.Arg870His chr14 22963865 22963868 VAR_020817 - P12883:p.Met877Lys chr14 22963850 22963853 VAR_042811 - P12883:p.Gln882Glu chr14 22963847 22963850 VAR_019864 - P12883:p.883del chr14 22963195 22963198 VAR_042812 - P12883:p.Glu894Gly chr14 22963174 22963177 VAR_042813 - P12883:p.Ala901Gly chr14 22963162 22963165 VAR_029442 - P12883:p.Cys905Phe chr14 22963159 22963162 VAR_042814 - P12883:p.Asp906Gly chr14 22963153 22963156 VAR_004593 - P12883:p.Leu908Val chr14 22963114 22963117 VAR_042815 - P12883:p.Glu921Lys chr14 22963105 22963108 VAR_004594 - P12883:p.Glu924Lys chr14 22963105 22963108 VAR_029443 - P12883:p.Glu924Gln chr14 22963096 22963099 VAR_042816 - P12883:p.Glu927Lys chr14 22963096 22963099 VAR_020818 - P12883:p.927del chr14 22963093 22963096 VAR_029444 - P12883:p.Asp928Asn chr14 22963087 22963090 VAR_004595 - P12883:p.Glu930Lys chr14 22963087 22963090 VAR_004596 - P12883:p.930del chr14 22963084 22963087 VAR_042817 - P12883:p.Glu931Lys chr14 22963072 22963075 VAR_004597 - P12883:p.Glu935Lys chr14 22963030 22963033 VAR_004598 - P12883:p.Glu949Lys chr14 22963018 22963021 VAR_042818 - P12883:p.Asp953His chr14 22962637 22962640 VAR_042819 - P12883:p.Thr1019Asn chr14 22961302 22961305 VAR_042820 - P12883:p.Gly1057Asp chr14 22961302 22961305 VAR_042821 - P12883:p.Gly1057Ser chr14 22959247 22959250 VAR_017753 - P12883:p.Ala1124Ser chr14 22959214 22959217 VAR_019865 - P12883:p.Leu1135Arg chr14 22959040 22959043 VAR_042822 - P12883:p.Arg1193Ser chr14 22958965 22958968 VAR_019866 - P12883:p.Glu1218Gln chr14 22957446 22957449 VAR_042823 - P12883:p.Asn1327Lys chr14 22957359 22957362 VAR_042824 - P12883:p.Glu1356Lys chr14 22957296 22957299 VAR_019867 - P12883:p.Thr1377Met chr14 22957290 22957293 VAR_019868 - P12883:p.Ala1379Thr chr14 22957281 22957284 VAR_019869 - P12883:p.Arg1382Trp chr14 22956644 22956647 VAR_042825 - P12883:p.Arg1420Trp chr14 22956626 22956629 VAR_042826 - P12883:p.Glu1426Lys chr14 22956358 22956361 VAR_042827 - P12883:p.Ala1454Thr chr14 22956343 22956346 VAR_042828 - P12883:p.Lys1459Asn chr14 22956295 22956298 VAR_042829 - P12883:p.Arg1475Cys chr14 22956247 22956250 VAR_020819 - P12883:p.Ser1491Cys chr14 22956220 22956223 VAR_022369 - P12883:p.Arg1500Pro chr14 22956021 22956024 VAR_042830 - P12883:p.Thr1513Ser chr14 22956003 22956006 VAR_042831 - P12883:p.Ser1519Cys chr14 22955340 22955343 VAR_020820 - P12883:p.Glu1555Lys chr14 22955154 22955157 VAR_042832 - P12883:p.1617del chr14 22955103 22955106 VAR_042833 - P12883:p.Arg1634Cys chr14 22954845 22954848 VAR_022370 - P12883:p.Ala1663Pro chr14 22954758 22954761 VAR_019870 - P12883:p.Val1692Met chr14 22954716 22954719 VAR_022371 - P12883:p.Leu1706Pro chr14 22954698 22954701 VAR_042834 - P12883:p.Arg1712Trp chr14 22954525 22954528 VAR_042835 - P12883:p.1729del chr14 22954453 22954456 VAR_042836 - P12883:p.Glu1753Lys chr14 22954298 22954301 VAR_042837 - P12883:p.Glu1768Lys chr14 22954274 22954277 VAR_020821 - P12883:p.Ser1776Gly chr14 22954271 22954274 VAR_019871 - P12883:p.Ala1777Thr chr14 22954067 22954070 VAR_017754 - P12883:p.Arg1845Trp chr14 22953148 22953151 VAR_042838 - P12883:p.Thr1854Met chr14 22953061 22953064 VAR_042839 - P12883:p.Glu1883Lys chr14 22952894 22952897 VAR_042840 - P12883:p.His1901Leu chr14 22952840 22952843 VAR_042841 - P12883:p.Lys1919Asn chr14 22952810 22952813 VAR_042842 - P12883:p.Thr1929Met chr17 10250964 10250967 VAR_019810 - P13535:p.Arg674Gln chr17 10245743 10245746 VAR_030207 - P13535:p.Glu924Gly chr17 10243663 10243666 VAR_030208 - P13535:p.Glu1261Gly chr17 10238380 10238383 VAR_030209 - P13535:p.Trp1692Arg chr22 35069502 35069505 VAR_010791 - P35579:p.Asn93Lys chr22 35069496 35069499 VAR_018308 - P35579:p.Ala95Thr chr22 35069493 35069496 VAR_018309 - P35579:p.Ser96Leu chr22 35038859 35038862 VAR_018310 - P35579:p.Lys373Asn chr22 35026528 35026531 VAR_010792 - P35579:p.Arg702Cys chr22 35026528 35026531 VAR_018311 - P35579:p.Arg702His chr22 35026519 35026522 VAR_010793 - P35579:p.Arg705His chr22 35023182 35023185 VAR_036006 - P35579:p.Lys810Asn chr22 35016193 35016196 VAR_018312 - P35579:p.Ser1114Pro chr22 35016070 35016073 VAR_010794 - P35579:p.Thr1155Ile chr22 35015612 35015615 VAR_010795 - P35579:p.Arg1165Cys chr22 35015612 35015615 VAR_018313 - P35579:p.Arg1165Leu chr22 35015486 35015495 VAR_018314 - P35579:p.1205_1207del chr22 35012675 35012678 VAR_018315 - P35579:p.Arg1400Trp chr22 35012603 35012606 VAR_010796 - P35579:p.Asp1424His chr22 35012603 35012606 VAR_018316 - P35579:p.Asp1424Asn chr22 35012603 35012606 VAR_018317 - P35579:p.Asp1424Tyr chr22 35008851 35008854 VAR_018318 - P35579:p.Ile1626Val chr22 35005701 35005704 VAR_030385 - P35579:p.Ile1816Val chr22 35005017 35005020 VAR_010797 - P35579:p.Glu1841Lys chr3 46877308 46877311 VAR_019842 - P08590:p.Glu56Gly chr3 46876020 46876023 VAR_019843 - P08590:p.Glu143Lys chr3 46876002 46876005 VAR_004599 - P08590:p.Met149Val chr3 46875987 46875990 VAR_004600 - P08590:p.Arg154His chr12 54840156 54840159 VAR_034118 + P60660:p.Thr103Pro chr6 16253302 16253305 VAR_019805 + Q8WY64:p.Asn342Ser chr20 29871795 29871798 VAR_014197 + Q9H1R3:p.Ala87Val chr20 29871819 29871822 VAR_014198 + Q9H1R3:p.Ala95Glu chr20 29871885 29871888 VAR_040860 + Q9H1R3:p.Ala117Val chr20 29871960 29871963 VAR_040861 + Q9H1R3:p.Gly142Val chr20 29871966 29871969 VAR_040862 + Q9H1R3:p.Pro144Ala chr20 29875813 29875816 VAR_040863 + Q9H1R3:p.Lys324Asn chr16 45323912 45323915 VAR_035630 - Q32MK0:p.Gly366Arg chr3 124935749 124935752 VAR_040847 - Q15746:p.Val261Ala chr3 124935704 124935707 VAR_040848 - Q15746:p.Thr276Ala chr3 124935398 124935401 VAR_040849 - Q15746:p.Arg378His chr3 124935317 124935320 VAR_040850 - Q15746:p.Met405Val chr3 124934619 124934622 VAR_040851 - Q15746:p.Pro443Ser chr3 124911413 124911416 VAR_040852 - Q15746:p.Arg607Gly chr3 124910418 124910421 VAR_040853 - Q15746:p.Pro652Ala chr3 124910406 124910409 VAR_040854 - Q15746:p.Trp656Cys chr3 124910298 124910301 VAR_040855 - Q15746:p.Thr692Met chr3 124910271 124910274 VAR_040856 - Q15746:p.Ala701Thr chr3 124910247 124910250 VAR_040857 - Q15746:p.Val709Met chr3 124902421 124902424 VAR_019986 - Q15746:p.Leu861Pro chr3 124902262 124902265 VAR_019987 - Q15746:p.Asp914Glu chr3 124848798 124848801 VAR_040858 - Q15746:p.Ala1527Val chr3 124841896 124841899 VAR_040859 - Q15746:p.Pro1588Leu chr17 17987622 17987625 VAR_037959 + Q9UKN7:p.Cys1977Arg chr17 17987913 17987916 VAR_037960 + Q9UKN7:p.Gly2018Arg chr17 17989967 17989970 VAR_010303 + Q9UKN7:p.Asn2111Tyr chr17 17989973 17989976 VAR_010304 + Q9UKN7:p.Ile2113Phe chr17 17992170 17992173 VAR_037961 + Q9UKN7:p.Thr2205Ile chr17 17994946 17994949 VAR_037962 + Q9UKN7:p.Ala2490Thr chr17 17997890 17997893 VAR_037963 + Q9UKN7:p.Tyr2682Phe chr17 17998226 17998229 VAR_037964 + Q9UKN7:p.Gln2716His chr12 55727435 55727438 VAR_015945 - Q9UBC5:p.Ser116Ser chr12 55723383 55723386 VAR_015946 - Q9UBC5:p.Val306Met chr12 55721491 55721494 VAR_015947 - Q9UBC5:p.Glu385Asp chr12 55718080 55718083 VAR_020320 - Q9UBC5:p.Phe600Leu chr12 55717667 55717670 VAR_015948 - Q9UBC5:p.Gly662Glu chr12 55717631 55717634 VAR_015949 - Q9UBC5:p.Gly674Asp chr12 55711183 55711186 VAR_015950 - Q9UBC5:p.Ser797Phe chr12 55709632 55709635 VAR_015951 - Q9UBC5:p.Ser910Pro chr2 192060491 192060494 VAR_036007 + O43795:p.Val385Gly chr2 192060491 192060494 VAR_036008 + O43795:p.Val385Ile chr2 192104310 192104313 VAR_014113 + O43795:p.Glu969Lys chr10 26345777 26345780 VAR_040871 + Q8NEV4:p.Thr178Ile chr10 26350461 26350464 VAR_021866 + Q8NEV4:p.Asp204Asn chr10 26395910 26395913 VAR_040872 + Q8NEV4:p.Arg319His chr10 26395997 26396000 VAR_040873 + Q8NEV4:p.Ile348Val chr10 26397753 26397756 VAR_040874 + Q8NEV4:p.Val369Ile chr10 26425325 26425328 VAR_040875 + Q8NEV4:p.Asn525Lys chr10 26474460 26474463 VAR_040876 + Q8NEV4:p.Ala833Ser chr10 26486316 26486319 VAR_021867 + Q8NEV4:p.Ser956Asn chr10 26486316 26486319 VAR_040877 + Q8NEV4:p.Ser956Arg chr10 26495095 26495098 VAR_040878 + Q8NEV4:p.Ala1032Thr chr10 26497667 26497670 VAR_040879 + Q8NEV4:p.Val1045Met chr10 26502607 26502610 VAR_040880 + Q8NEV4:p.Val1137Met chr10 26502781 26502784 VAR_040881 + Q8NEV4:p.Val1195Ala chr10 26503048 26503051 VAR_033905 + Q8NEV4:p.Thr1284Ser chr10 26503057 26503060 VAR_040882 + Q8NEV4:p.Pro1287Thr chr10 26503135 26503138 VAR_022779 + Q8NEV4:p.Arg1313Ser chr10 26503237 26503240 VAR_040883 + Q8NEV4:p.Asp1347His chr10 26503447 26503450 VAR_040884 + Q8NEV4:p.Thr1417Ile chr10 26522162 26522165 VAR_040885 + Q8NEV4:p.Lys1488Glu chr2 170881282 170881285 VAR_040886 + Q8WXR4:p.Pro21Ser chr2 170899361 170899364 VAR_040887 + Q8WXR4:p.Arg185His chr2 171017450 171017453 VAR_040888 + Q8WXR4:p.Asn267Ser chr2 171051245 171051248 VAR_030605 + Q8WXR4:p.Ile275Val chr2 171051347 171051350 VAR_030606 + Q8WXR4:p.Lys309Glu chr2 171051368 171051371 VAR_040889 + Q8WXR4:p.His316Leu chr2 171064114 171064117 VAR_040890 + Q8WXR4:p.Glu352Gln chr2 171065182 171065185 VAR_040891 + Q8WXR4:p.Asn388Ser chr2 171065756 171065759 VAR_030607 + Q8WXR4:p.Ala406Thr chr2 171082324 171082327 VAR_040892 + Q8WXR4:p.Gln638Pro chr2 171086293 171086296 VAR_030608 + Q8WXR4:p.Val770Ile chr2 171086302 171086305 VAR_040893 + Q8WXR4:p.Glu773Gly chr2 171086377 171086380 VAR_030609 + Q8WXR4:p.Glu798Lys chr2 171145405 171145408 VAR_040894 + Q8WXR4:p.Arg918Gln chr2 171148618 171148621 VAR_040895 + Q8WXR4:p.Ser969Cys chr2 171148681 171148684 VAR_040896 + Q8WXR4:p.Arg990Cys chr2 171181809 171181812 VAR_040897 + Q8WXR4:p.Ile1092Val chr2 171196975 171196978 VAR_040898 + Q8WXR4:p.Val1137Ile chr2 171201474 171201477 VAR_040899 + Q8WXR4:p.Arg1165Cys chr15 50430853 50430856 VAR_010645 - Q9Y4I1:p.Arg1246Cys chr15 50326482 50326485 VAR_010647 - Q9NQX4:p.Leu634Ser chr15 50305003 50305006 VAR_024544 - Q9NQX4:p.Glu1075Lys chr11 76531429 76531432 VAR_009315 + Q13402:p.Leu16Ser chr11 76531456 76531459 VAR_009316 + Q13402:p.Gly25Arg chr11 76531459 76531462 VAR_024039 + Q13402:p.Ala26Glu chr11 76536557 76536560 VAR_024040 + Q13402:p.Val67Met chr11 76536626 76536629 VAR_024041 + Q13402:p.Arg90Pro chr11 76544711 76544714 VAR_027301 + Q13402:p.His133Asp chr11 76544714 76544717 VAR_024042 + Q13402:p.Ile134Asn chr11 76545369 76545372 VAR_027302 + Q13402:p.Gly163Arg chr11 76545372 76545375 VAR_027303 + Q13402:p.Lys164Arg chr11 76545375 76545378 VAR_024043 + Q13402:p.Thr165Met chr11 76545474 76545475 VAR_027304 + Q13402:p.Ala198Thr chr11 76545555 76545557 VAR_027304 + Q13402:p.Ala198Thr chr11 76545572 76545575 VAR_027305 + Q13402:p.Thr204Ala chr11 76545575 76545578 VAR_009317 + Q13402:p.Ile205Val chr11 76545596 76545599 VAR_009318 + Q13402:p.Arg212Cys chr11 76545596 76545599 VAR_009319 + Q13402:p.Arg212His chr11 76545602 76545605 VAR_009320 + Q13402:p.Gly214Arg chr11 76545614 76545620 VAR_009321 + Q13402:p.218_219del chr11 76545683 76545686 VAR_024044 + Q13402:p.Arg241Cys chr11 76545683 76545686 VAR_009322 + Q13402:p.Arg241Ser chr11 76545692 76545695 VAR_009323 + Q13402:p.Arg244Pro chr11 76546041 76546044 VAR_024045 + Q13402:p.269del chr11 76547024 76547027 VAR_009324 + Q13402:p.Arg302His chr11 76548964 76548967 VAR_009325 + Q13402:p.Ala397Asp chr11 76550817 76550820 VAR_009326 + Q13402:p.Glu450Gln chr11 76550838 76550841 VAR_024046 + Q13402:p.Ala457Val chr11 76550841 76550844 VAR_027306 + Q13402:p.Asn458Ile chr11 76550871 76550874 VAR_009327 + Q13402:p.His468His chr11 76550976 76550979 VAR_009328 + Q13402:p.Pro503Leu chr11 76551546 76551549 VAR_024047 + Q13402:p.Gly519Asp chr11 76554847 76554850 VAR_009329 + Q13402:p.Val597Ile chr11 76554853 76554856 VAR_009330 + Q13402:p.Met599Ile chr11 76563464 76563467 VAR_009331 + Q13402:p.Leu651Pro chr11 76564134 76564137 VAR_027307 + Q13402:p.Gly722Arg chr11 76566320 76566323 VAR_024048 + Q13402:p.Arg756Trp chr11 76568536 76568539 VAR_009332 + Q13402:p.Ala826Thr chr11 76568617 76568620 VAR_027308 + Q13402:p.Arg853Cys chr11 76569136 76569145 VAR_009333 + Q13402:p.886_888del chr11 76570241 76570244 VAR_009334 + Q13402:p.Gly955Ser chr11 76570280 76570283 VAR_024049 + Q13402:p.Glu968Asp chr11 76571266 76571269 VAR_009335 + Q13402:p.Leu1087Pro chr11 76578040 76578043 VAR_009336 + Q13402:p.Glu1170Lys chr11 76578799 76578802 VAR_009337 + Q13402:p.Arg1240Gln chr11 76579500 76579503 VAR_009338 + Q13402:p.Ala1288Pro chr11 76580797 76580800 VAR_027309 + Q13402:p.Glu1327Lys chr11 76580845 76580848 VAR_009339 + Q13402:p.Arg1343Ser chr11 76580854 76580857 VAR_024050 + Q13402:p.1346del chr11 76580857 76580872 VAR_027310 + Q13402:p.1347_1351del chr11 76588354 76588357 VAR_027311 + Q13402:p.Thr1566Met chr11 76588462 76588465 VAR_009340 + Q13402:p.Arg1602Gln chr11 76590169 76590172 VAR_009341 + Q13402:p.Ala1628Ser chr11 76591103 76591106 VAR_009344 + Q13402:p.Tyr1719Cys chr11 76591801 76591804 VAR_027313 + Q13402:p.Gly1740Ser chr11 76591810 76591813 VAR_024051 + Q13402:p.Arg1743Trp chr1 168353396 168353399 VAR_009665 - Q99972:p.Phe4Ser chr1 168353381 168353384 VAR_009666 - Q99972:p.Cys9Ser chr1 168353372 168353375 VAR_009667 - Q99972:p.Gly12Arg chr1 168353351 168353354 VAR_009668 - Q99972:p.Gln19His chr1 168353249 168353252 VAR_008969 - Q99972:p.Val53Ala chr1 168353189 168353192 VAR_009669 - Q99972:p.Asn73Ser chr1 168353180 168353183 VAR_009670 - Q99972:p.Arg76Lys chr1 168353162 168353165 VAR_009671 - Q99972:p.Arg82Cys chr1 168353162 168353165 VAR_009672 - Q99972:p.Arg82His chr1 168352841 168352844 VAR_009673 - Q99972:p.Arg189Gln chr1 168339514 168339517 VAR_009674 - Q99972:p.Ser203Phe chr1 168339499 168339502 VAR_014943 - Q99972:p.Asp208Glu chr1 168337498 168337501 VAR_005468 - Q99972:p.Gly246Arg chr1 168337378 168337381 VAR_009675 - Q99972:p.Trp286Arg chr1 168337357 168337360 VAR_009676 - Q99972:p.Thr293Lys chr1 168337249 168337252 VAR_009677 - Q99972:p.Val329Met chr1 168337225 168337228 VAR_005469 - Q99972:p.Gln337Arg chr1 168337180 168337183 VAR_009678 - Q99972:p.Glu352Lys chr1 168337177 168337180 VAR_009679 - Q99972:p.Thr353Ile chr1 168337153 168337156 VAR_009680 - Q99972:p.Pro361Ser chr1 168337144 168337147 VAR_005470 - Q99972:p.Gly364Val chr1 168337135 168337138 VAR_005471 - Q99972:p.Gly367Arg chr1 168337126 168337129 VAR_005472 - Q99972:p.Pro370Leu chr1 168337105 168337108 VAR_009681 - Q99972:p.Thr377Met chr1 168337096 168337099 VAR_009682 - Q99972:p.Asp380Ala chr1 168337096 168337099 VAR_009683 - Q99972:p.Asp380Gly chr1 168337057 168337060 VAR_009684 - Q99972:p.Ser393Arg chr1 168337042 168337045 VAR_009685 - Q99972:p.Lys398Arg chr1 168337030 168337033 VAR_009686 - Q99972:p.Val402Ile chr1 168336970 168336973 VAR_009687 - Q99972:p.Arg422Cys chr1 168336970 168336973 VAR_009688 - Q99972:p.Arg422His chr1 168336967 168336970 VAR_009689 - Q99972:p.Lys423Glu chr1 168336961 168336964 VAR_009690 - Q99972:p.Ser425Pro chr1 168336958 168336961 VAR_005473 - Q99972:p.Val426Phe chr1 168336937 168336940 VAR_008970 - Q99972:p.Cys433Arg chr1 168336925 168336928 VAR_005474 - Q99972:p.Tyr437His chr1 168336901 168336904 VAR_009691 - Q99972:p.Ala445Val chr1 168336841 168336844 VAR_009692 - Q99972:p.Ile465Met chr1 168336826 168336829 VAR_009693 - Q99972:p.Arg470Cys chr1 168336817 168336820 VAR_009694 - Q99972:p.Tyr473Cys chr1 168336805 168336808 VAR_009695 - Q99972:p.Ile477Asn chr1 168336805 168336808 VAR_005475 - Q99972:p.Ile477Ser chr1 168336796 168336799 VAR_005476 - Q99972:p.Asn480Lys chr1 168336793 168336796 VAR_009696 - Q99972:p.Pro481Leu chr1 168336793 168336796 VAR_009697 - Q99972:p.Pro481Thr chr1 168336751 168336754 VAR_009698 - Q99972:p.Val495Ile chr1 168336739 168336742 VAR_005477 - Q99972:p.Ile499Phe chr1 168336736 168336739 VAR_009699 - Q99972:p.Lys500Arg chr1 168336730 168336733 VAR_009700 - Q99972:p.Ser502Pro chr10 95101480 95101483 VAR_031250 - Q9NZM1:p.Tyr1198Phe chr10 95097415 95097418 VAR_031251 - Q9NZM1:p.Arg1399Cys chr10 95073027 95073030 VAR_031252 - Q9NZM1:p.Arg1783Gln chr8 1987815 1987818 VAR_033613 + P54296:p.Glu81Lys chr8 1993288 1993291 VAR_033614 + P54296:p.Thr182Met chr8 2008953 2008956 VAR_033616 + P54296:p.Val363Ile chr8 2025393 2025396 VAR_033617 + P54296:p.Ser601Tyr chr8 2029300 2029303 VAR_033618 + P54296:p.Val701Ile chr8 2034105 2034108 VAR_020083 + P54296:p.Thr776Met chr8 2044612 2044615 VAR_020084 + P54296:p.Leu1022Phe chr8 2076101 2076104 VAR_033619 + P54296:p.Glu1284Asp chr1 142483736 142483739 VAR_036627 - Q5VU43:p.Asn13Ser chr1 142483700 142483703 VAR_036628 - Q5VU43:p.Arg25Leu chr1 142444330 142444333 VAR_036629 - Q5VU43:p.Ile49Thr chr1 142441261 142441264 VAR_036630 - Q5VU43:p.Ala167Thr chr5 137234335 137234338 VAR_035520 + Q9UBF9:p.Ser33Ile chr5 137234353 137234356 VAR_029532 + Q9UBF9:p.Ser39Phe chr5 137234401 137234404 VAR_021569 + Q9UBF9:p.Ser55Phe chr5 137234407 137234410 VAR_021570 + Q9UBF9:p.Thr57Ile chr5 137234416 137234419 VAR_021571 + Q9UBF9:p.Ser60Cys chr5 137234416 137234419 VAR_021572 + Q9UBF9:p.Ser60Phe chr5 137234521 137234524 VAR_021573 + Q9UBF9:p.Ser95Ile chr1 158090258 158090261 VAR_031884 - P25189:p.42del chr1 158090222 158090225 VAR_004504 - P25189:p.Ser54Cys chr1 158090222 158090225 VAR_004505 - P25189:p.Ser54Pro chr1 158090195 158090198 VAR_004507 - P25189:p.63del chr1 158090192 158090195 VAR_004510 - P25189:p.64del chr1 158089781 158089784 VAR_015974 - P25189:p.Ile89Asn chr1 158089751 158089754 VAR_004522 - P25189:p.Ile99Thr chr1 158089739 158089742 VAR_015976 - P25189:p.Gly103Glu chr1 158089673 158089679 VAR_004530 - P25189:p.124_125del chr1 158089664 158089667 VAR_004532 - P25189:p.Asp128Glu chr1 158089664 158089667 VAR_004533 - P25189:p.Asp128Asn chr1 158089610 158089613 VAR_029984 - P25189:p.Val146Phe chr1 158088807 158088810 VAR_029987 - P25189:p.236del chr12 100547628 100547631 VAR_021923 + Q00872:p.His481Gln chr19 55630888 55630891 VAR_014657 + Q14324:p.Gly52Ser chr10 69603925 69603928 VAR_026727 + Q86TC9:p.Ser691Asn chr10 69603973 69603976 VAR_026728 + Q86TC9:p.Ser707Asn chr10 69604261 69604264 VAR_026729 + Q86TC9:p.Ser803Arg chrX 102846693 102846696 VAR_004546 + P60201:p.Pro15Leu chrX 102846741 102846744 VAR_015014 + P60201:p.Leu31Pro chrX 102846744 102846747 VAR_015015 + P60201:p.Phe32Leu chrX 102846744 102846747 VAR_015016 + P60201:p.Phe32Val chrX 102846753 102846756 VAR_015017 + P60201:p.Cys35Tyr chrX 102846765 102846768 VAR_015018 + P60201:p.Ala39Thr chrX 102846777 102846780 VAR_004547 + P60201:p.Thr43Ile chrX 102846786 102846789 VAR_015019 + P60201:p.Leu46Pro chrX 102846786 102846789 VAR_015020 + P60201:p.Leu46Arg chrX 102846801 102846804 VAR_015021 + P60201:p.Phe51Ser chrX 102846828 102846831 VAR_015022 + P60201:p.Tyr60Cys chrX 102847566 102847569 VAR_004548 + P60201:p.Gly74Arg chrX 102847692 102847695 VAR_015023 + P60201:p.Thr116Lys chrX 102847695 102848913 VAR_004550 + P60201:p.117_165del chrX 102847734 102847737 VAR_015024 + P60201:p.His130Tyr chrX 102847764 102847767 VAR_004551 + P60201:p.His140Tyr chrX 102847788 102847791 VAR_015025 + P60201:p.His148Tyr chrX 102847797 102847800 VAR_015026 + P60201:p.Lys151Asn chrX 102848883 102848886 VAR_004552 + P60201:p.Thr156Ile chrX 102848904 102848907 VAR_004553 + P60201:p.Trp163Arg chrX 102848913 102848916 VAR_004554 + P60201:p.Val166Glu chrX 102848913 102848916 VAR_015027 + P60201:p.Val166Gly chrX 102848922 102848925 VAR_015028 + P60201:p.Cys169Arg chrX 102848925 102848928 VAR_015029 + P60201:p.Ser170Phe chrX 102848931 102848934 VAR_015030 + P60201:p.Val172Ala chrX 102848940 102848943 VAR_015031 + P60201:p.Tyr175Cys chrX 102848958 102848961 VAR_015032 + P60201:p.Trp181Cys chrX 102848961 102848964 VAR_004555 + P60201:p.Thr182Pro chrX 102848964 102848967 VAR_015033 + P60201:p.Thr183Asn chrX 102848976 102848979 VAR_004556 + P60201:p.Ile187Thr chrX 102849024 102849027 VAR_015034 + P60201:p.Asp203Glu chrX 102849024 102849027 VAR_015035 + P60201:p.Asp203Gly chrX 102849024 102849027 VAR_004557 + P60201:p.Asp203His chrX 102849024 102849027 VAR_015036 + P60201:p.Asp203Asn chrX 102849024 102849027 VAR_007956 + P60201:p.Asp203Val chrX 102849030 102849033 VAR_015037 + P60201:p.Arg205Gly chrX 102849036 102849039 VAR_015038 + P60201:p.Tyr207Cys chrX 102849512 102849515 VAR_015039 + P60201:p.Val209Asp chrX 102849515 102849518 VAR_015040 + P60201:p.Leu210His chrX 102849518 102849521 VAR_015041 + P60201:p.Pro211Leu chrX 102849521 102849524 VAR_015042 + P60201:p.Trp212Arg chrX 102849533 102849536 VAR_015043 + P60201:p.Pro216Ala chrX 102849533 102849536 VAR_004558 + P60201:p.Pro216Ser chrX 102849536 102849539 VAR_004559 + P60201:p.Gly217Ser chrX 102849542 102849545 VAR_004560 + P60201:p.Val219Phe chrX 102849545 102849548 VAR_015044 + P60201:p.Cys220Tyr chrX 102849548 102849551 VAR_004561 + P60201:p.Gly221Cys chrX 102849557 102849560 VAR_015045 + P60201:p.Leu224Ile chrX 102849557 102849560 VAR_004562 + P60201:p.Leu224Pro chrX 102849563 102849566 VAR_015046 + P60201:p.Ser226Pro chrX 102849569 102849572 VAR_015047 + P60201:p.Cys228Tyr chrX 102850409 102850412 VAR_015048 + P60201:p.Gln234Pro chrX 102850418 102850421 VAR_004563 + P60201:p.Phe237Ser chrX 102850433 102850436 VAR_015049 + P60201:p.Ala242Pro chrX 102850445 102850448 VAR_015050 + P60201:p.Gly246Glu chrX 102850451 102850454 VAR_015051 + P60201:p.Ala248Glu chrX 102850454 102850457 VAR_004565 + P60201:p.Ala249Pro chrX 102850466 102850469 VAR_015052 + P60201:p.Ser253Phe chr10 76405547 76405550 VAR_036361 + Q8WYB5:p.Thr483Ala chr6 150304115 150304118 VAR_024534 - Q8TD07:p.Arg12His chr6 150303234 150303237 VAR_020271 - Q8TD07:p.Tyr82Asn chr6 150302835 150302838 VAR_024535 - Q8TD07:p.Arg128His chr6 150301828 150301831 VAR_024536 - Q8TD07:p.Val237Leu chr13 32008348 32008351 VAR_034765 - Q92802:p.Tyr272His chr13 20201284 20201287 VAR_037216 - Q8WVE0:p.Thr193Asn chr4 77214485 77214488 VAR_028428 - Q02083:p.Val151Ile chr14 69597357 69597360 VAR_036463 - P57103:p.Glu612Gln chr2 27798684 27798687 VAR_024748 + Q9BWU0:p.Pro139Thr chr16 29613943 29613946 VAR_021915 + Q15274:p.Ala158Val chr11 70847194 70847197 VAR_026497 + Q6IA69:p.Val74Leu chr1 1718201 1718204 VAR_034119 - O95544:p.Asn262Lys chr3 176297439 176297442 VAR_038288 + Q58DX5:p.Gly68Ser chr3 176297619 176297622 VAR_038289 + Q58DX5:p.Ile128Met chr3 176434456 176434459 VAR_038290 + Q58DX5:p.Met194Thr chr22 40787638 40787641 VAR_000496 - P17050:p.Ser160Cys chr22 40781553 40781556 VAR_000497 - P17050:p.Glu325Lys chr22 40781541 40781544 VAR_022525 - P17050:p.Arg329Gln chr22 40781541 40781544 VAR_000498 - P17050:p.Arg329Trp chr2 71209368 71209371 VAR_029763 + Q9UJ70:p.Trp38Arg chr2 71209588 71209591 VAR_029764 + Q9UJ70:p.Ala60Val chr17 39438701 39438704 VAR_023505 + Q8N159:p.Cys200Arg chr17 39439050 39439053 VAR_023506 + Q8N159:p.Ala279Pro chr17 39440347 39440350 VAR_023507 + Q8N159:p.Ser410Pro chr17 39440503 39440506 VAR_023508 + Q8N159:p.Leu430Pro chr17 39440665 39440667 VAR_023509 + Q8N159:p.Trp484Arg chr17 39441341 39441342 VAR_023509 + Q8N159:p.Trp484Arg chr17 39441441 39441444 VAR_023510 + Q8N159:p.Ala518Thr chr6 111691805 111691808 VAR_033192 + Q5TF39:p.Ser93Pro chr19 61116253 61116256 VAR_031707 - Q86W25:p.Gln247Arg chr19 61111073 61111076 VAR_031708 - Q86W25:p.Asn781Ser chr11 7016534 7016537 VAR_031932 + Q86W24:p.Asn48Thr chr11 7016555 7016558 VAR_031933 + Q86W24:p.Arg55Glu chr11 7016648 7016651 VAR_031934 + Q86W24:p.Asp86Val chr11 7016666 7016669 VAR_031935 + Q86W24:p.Lys92Arg chr11 7017522 7017525 VAR_031936 + Q86W24:p.Ser98Leu chr11 7020955 7020958 VAR_031937 + Q86W24:p.Ala375Thr chr11 7021021 7021024 VAR_031938 + Q86W24:p.Thr397Ile chr11 7021153 7021156 VAR_031939 + Q86W24:p.Val441Met chr11 7021396 7021399 VAR_031940 + Q86W24:p.Asp522Gln chr11 7035526 7035529 VAR_036387 + Q86W24:p.Ser779Cys chr11 7035613 7035616 VAR_024180 + Q86W24:p.Glu808Lys chr11 7040185 7040188 VAR_031941 + Q86W24:p.Ser951Thr chr11 7040194 7040197 VAR_031942 + Q86W24:p.Leu954Ser chr11 7048144 7048147 VAR_031943 + Q86W24:p.Leu1010Phe chr11 7048171 7048174 VAR_031944 + Q86W24:p.Met1019Ile chr11 89520251 89520254 VAR_034120 + Q9Y3Q0:p.Val101Ile chr11 89541801 89541804 VAR_034121 + Q9Y3Q0:p.Ile446Val chr17 5426089 5426092 VAR_033239 - Q9C000:p.Leu155His chr17 5404001 5404004 VAR_024238 - Q9C000:p.Thr246Ser chr17 5403527 5403530 VAR_021886 - Q9C000:p.Arg404Gln chr17 5385965 5385968 VAR_033240 - Q9C000:p.Thr878Met chr17 5376984 5376987 VAR_024239 - Q9C000:p.Val1059Met chr17 5376954 5376957 VAR_033241 - Q9C000:p.His1069Tyr chr17 5374687 5374690 VAR_033242 - Q9C000:p.Met1119Val chr17 5365798 5365801 VAR_033243 - Q9C000:p.Met1184Val chr17 5365627 5365630 VAR_033244 - Q9C000:p.Val1241Leu chr17 5359520 5359523 VAR_020437 - Q9C000:p.Arg1366Cys chr19 60185967 60185970 VAR_025011 + Q9NX02:p.Arg364Lys chr19 60204042 60204045 VAR_020006 + Q9NX02:p.Ala1052Glu chr19 61061000 61061003 VAR_024179 + Q96MN2:p.Ala144Thr chr19 61061717 61061720 VAR_024827 + Q96MN2:p.Glu383Asp chr19 61061738 61061741 VAR_024828 + Q96MN2:p.Pro390Gln chr19 61065272 61065275 VAR_032764 + Q96MN2:p.Arg708His chr19 61071019 61071022 VAR_024829 + Q96MN2:p.Leu774Met chr19 61082047 61082050 VAR_020007 + Q96MN2:p.Gln925Leu chr19 60143041 60143044 VAR_026710 - Q8WX94:p.Val319Ile chr19 60141273 60141276 VAR_026711 - Q8WX94:p.Arg693Pro chr19 60141273 60141276 VAR_026712 - Q8WX94:p.Arg693Trp chr19 60133749 60133752 VAR_026713 - Q8WX94:p.Asn913Ser chr19 60126949 60126952 VAR_026714 - Q8WX94:p.Thr971Ala chr19 60935733 60935736 VAR_036386 - Q7RTR0:p.Gly425Asp chr7 105503628 105503631 VAR_036614 - P43490:p.Leu176Ser chr12 7836904 7836907 VAR_029384 + Q9H9S0:p.Lys82Asn chr19 55554577 55554580 VAR_024586 - O96009:p.Ala310Thr chr11 3637637 3637640 VAR_034125 + P52961:p.Pro105Leu chr11 3637700 3637703 VAR_034126 + P52961:p.Pro126Arg chr12 14885174 14885177 VAR_013707 - Q93070:p.Gly108Val chr12 14885147 14885150 VAR_013708 - Q93070:p.Thr117Ile chr12 14885093 14885096 VAR_022266 - Q93070:p.Asp135Glu chr12 14884931 14884934 VAR_022267 - Q93070:p.Thr189Met chr12 14873616 14873619 VAR_013710 - Q93070:p.Leu300Val chr3 50309463 50309466 VAR_014224 - Q93015:p.Arg145Ser chr3 50309277 50309280 VAR_014225 - Q93015:p.Thr207Ser chr17 70281331 70281334 VAR_032225 - Q9BTE0:p.Cys56Arg chr11 19911767 19911770 VAR_029641 + Q8IVL1:p.Gln491His chr11 20022246 20022249 VAR_029642 + Q8IVL1:p.Glu1041Asp chr11 20085886 20085889 VAR_032252 + Q8IVL1:p.Val2374Ile chr12 76864906 76864909 VAR_032250 + Q8IVL0:p.Ser210Trp chr12 77095661 77095664 VAR_032251 + Q8IVL0:p.Glu2200Lys chr1 199667566 199667569 VAR_032320 - Q9UHQ9:p.Asn44Ser chr11 7650587 7650590 VAR_032321 - Q6BCY4:p.Glu15Ala chr11 7644288 7644291 VAR_032322 - Q6BCY4:p.Asn209Asp chr22 41351933 41351936 VAR_004619 - P00387:p.Arg58Gln chr22 41351909 41351912 VAR_018419 - P00387:p.Ser66Pro chr22 41351888 41351891 VAR_010750 - P00387:p.Leu73Pro chr22 41351400 41351403 VAR_004620 - P00387:p.Val106Met chr22 41348767 41348770 VAR_010751 - P00387:p.Thr117Ser chr22 41348734 41348737 VAR_004621 - P00387:p.Ser128Pro chr22 41348671 41348674 VAR_004622 - P00387:p.Leu149Pro chr22 41348118 41348121 VAR_010752 - P00387:p.Ala179Val chr22 41347828 41347831 VAR_010753 - P00387:p.Cys204Arg chr22 41347828 41347831 VAR_010754 - P00387:p.Cys204Tyr chr22 41340414 41340417 VAR_037315 - P00387:p.256del chr22 41340363 41340366 VAR_010755 - P00387:p.273del chr22 41340306 41340309 VAR_037316 - P00387:p.Gly292Asp chr22 41340285 41340288 VAR_004623 - P00387:p.299del chr8 91062819 91062822 VAR_025792 - O60934:p.Ser93Leu chr8 91062813 91062816 VAR_025793 - O60934:p.Asp95Asn chr8 91062783 91062786 VAR_025794 - O60934:p.Lys105Asn chr8 91062167 91062170 VAR_025795 - O60934:p.Leu150Phe chr8 91059694 91059697 VAR_025796 - O60934:p.Ile171Val chr8 91059652 91059655 VAR_025797 - O60934:p.Glu185Gln chr8 91052648 91052651 VAR_025798 - O60934:p.Val210Phe chr8 91052633 91052636 VAR_025799 - O60934:p.Arg215Trp chr8 91052630 91052633 VAR_025800 - O60934:p.Gln216Lys chr8 91051865 91051868 VAR_025801 - O60934:p.Pro266Leu chr8 91035001 91035004 VAR_025802 - O60934:p.Thr497Ala chr8 91034770 91034773 VAR_025803 - O60934:p.Leu574Ile chr1 16663762 16663765 VAR_032364 - Q3BBV0:p.Ile20Met chr1 16663729 16663732 VAR_032365 - Q3BBV0:p.Asn31Lys chr1 16652606 16652609 VAR_032366 - Q3BBV0:p.Ala510Thr chr1 16651021 16651024 VAR_032367 - Q3BBV0:p.Cys591Gly chr1 16646971 16646974 VAR_032371 - Q3BBV0:p.Lys726Glu chr1 93538196 93538199 VAR_034506 + Q01658:p.Glu171Asp chr1 180291058 180291067 VAR_017387 - P19878:p.19_21del chr1 180287712 180287715 VAR_017388 - P19878:p.Arg77Gln chr1 180287709 180287712 VAR_008904 - P19878:p.Gly78Glu chr1 180275395 180275398 VAR_017389 - P19878:p.Ala128Val chr1 180275296 180275302 VAR_017390 - P19878:p.Asp160_Lys161delinsGluVal chr1 180274042 180274045 VAR_018477 - P19878:p.Lys181Arg chr1 180268013 180268016 VAR_034129 - P19878:p.Thr279Met chr1 180267744 180267747 VAR_034130 - P19878:p.Val297Ala chr1 180266511 180266514 VAR_018478 - P19878:p.Arg328Lys chr1 180264091 180264094 VAR_008905 - P19878:p.Arg395Trp chr22 35591052 35591055 VAR_009314 + Q15080:p.Leu147Ile chr22 35591070 35591073 VAR_034136 + Q15080:p.Arg153His chr20 19209604 19209607 VAR_028024 + Q9HC58:p.Leu49Pro chr20 19209622 19209625 VAR_028025 + Q9HC58:p.Val55Ile chr20 19513692 19513695 VAR_028026 + Q9HC58:p.Val168Ile chr20 19610544 19610547 VAR_028027 + Q9HC58:p.Gly271Ser chr15 46213775 46213778 VAR_024922 + Q71RS6:p.Thr111Ala chr19 3158644 3158647 VAR_022552 + Q969V3:p.Lys551Arg chr8 71201671 71201674 VAR_024546 - Q15596:p.Met1282Ile chr20 45697737 45697740 VAR_013831 + Q9Y6Q9:p.Gly460Arg chr20 45698211 45698214 VAR_013832 + Q9Y6Q9:p.Pro559Ser chr20 45698292 45698295 VAR_013833 + Q9Y6Q9:p.Gln586His chr20 45713222 45713231 VAR_013834 + Q9Y6Q9:p.1248_1250del chr10 51250699 51250702 VAR_009190 + Q13772:p.Ser94Leu chr10 51251363 51251366 VAR_009191 + Q13772:p.Phe154Leu chr10 51254954 51254957 VAR_009192 + Q13772:p.Cys350Arg chr10 51255326 51255329 VAR_014928 + Q13772:p.Pro474Arg chr10 51255587 51255590 VAR_009193 + Q13772:p.Leu561Pro chr20 32806324 32806327 VAR_027874 - Q14686:p.Pro512Leu chr20 32798320 32798323 VAR_027875 - Q14686:p.Asn955Ser chr20 32794540 32794543 VAR_036551 - Q14686:p.Pro1060Ser chr20 32794147 32794150 VAR_036552 - Q14686:p.Ser1191Arg chr20 32784037 32784040 VAR_027876 - Q14686:p.Ile1995Val chr6 126252087 126252090 VAR_026965 + Q8NI08:p.Ser399Ala chr6 126291604 126291607 VAR_026966 + Q8NI08:p.Asp942Glu chr10 103567631 103567634 VAR_027761 - O60502:p.Gly46Glu chr10 103548591 103548594 VAR_027762 - O60502:p.Glu602Lys chr7 75255040 75255043 VAR_021154 + P16435:p.Tyr178Asp chr7 75257516 75257519 VAR_021155 + P16435:p.Ala284Pro chr7 75259146 75259149 VAR_021156 + P16435:p.Arg454His chr7 75259622 75259625 VAR_021157 + P16435:p.Val489Glu chr7 75259655 75259658 VAR_004617 + P16435:p.Ala500Val chr7 75259808 75259811 VAR_004618 + P16435:p.Arg551Gln chr7 75259926 75259929 VAR_021158 + P16435:p.Cys566Tyr chr7 75259953 75259956 VAR_021159 + P16435:p.Tyr575Cys chr7 75260133 75260136 VAR_021160 + P16435:p.Val605Phe chr7 75260145 75260172 VAR_021161 + P16435:p.Leu609_Trp617delinsArg chr19 60109865 60109868 VAR_018633 + O76036:p.Lys82Gln chr19 60109880 60109883 VAR_035527 + O76036:p.Asp87Tyr chr6 41411972 41411975 VAR_018634 + O95944:p.Met75Val chr6 41426400 41426403 VAR_018636 + O95944:p.Ile218Lys chr1 54003623 54003626 VAR_026388 - Q9BTX1:p.Gly154Asp chr18 2567760 2567763 VAR_027436 + O14777:p.Ser66Ala chr18 2585440 2585443 VAR_027437 + O14777:p.Glu348Asp chr18 2606456 2606459 VAR_027438 + O14777:p.Ala605Pro chr2 182368760 182368763 VAR_012487 - Q13562:p.Arg111Leu chr2 182368502 182368505 VAR_031260 - Q13562:p.Pro197His chr12 53706691 53706694 VAR_012979 + Q9HD90:p.Lys68Thr chr17 46594103 46594106 VAR_004625 + P15531:p.Ser120Gly chrX 43574106 43574109 VAR_005478 - Q00604:p.Leu13Arg chrX 43574097 43574100 VAR_016048 - Q00604:p.Leu16Pro chrX 43574076 43574079 VAR_034137 - Q00604:p.Asp23Glu chrX 43574028 43574031 VAR_005479 - Q00604:p.Cys39Arg chrX 43574022 43574025 VAR_005480 - Q00604:p.Arg41Lys chrX 43574019 43574022 VAR_005481 - Q00604:p.His42Arg chrX 43574013 43574016 VAR_005482 - Q00604:p.Tyr44Cys chrX 43573971 43573974 VAR_005483 - Q00604:p.Lys58Asn chrX 43565520 43565523 VAR_005484 - Q00604:p.Val60Glu chrX 43565517 43565520 VAR_005485 - Q00604:p.Leu61Phe chrX 43565517 43565520 VAR_005486 - Q00604:p.Leu61Pro chrX 43565511 43565514 VAR_005487 - Q00604:p.Ala63Asp chrX 43565505 43565508 VAR_005490 - Q00604:p.Cys65Trp chrX 43565505 43565508 VAR_005488 - Q00604:p.Cys65Tyr chrX 43565493 43565496 VAR_005489 - Q00604:p.Cys69Ser chrX 43565478 43565481 VAR_005491 - Q00604:p.Arg74Cys chrX 43565475 43565478 VAR_005492 - Q00604:p.Ser75Cys chrX 43565475 43565478 VAR_016049 - Q00604:p.Ser75Pro chrX 43565430 43565433 VAR_005494 - Q00604:p.Arg90Pro chrX 43565412 43565421 VAR_005495 - Q00604:p.His94_Cys96delinsGlnCysGlyLeu chrX 43565412 43565415 VAR_009275 - Q00604:p.Cys96Trp chrX 43565412 43565415 VAR_005496 - Q00604:p.Cys96Tyr chrX 43565397 43565400 VAR_005497 - Q00604:p.Ser101Phe chrX 43565388 43565391 VAR_005498 - Q00604:p.Lys104Gln chrX 43565385 43565388 VAR_016050 - Q00604:p.Ala105Thr chrX 43565370 43565373 VAR_016051 - Q00604:p.Cys110Gly chrX 43565340 43565343 VAR_005499 - Q00604:p.Tyr120Cys chrX 43565331 43565340 VAR_005503 - Q00604:p.121_123del chrX 43565337 43565340 VAR_005500 - Q00604:p.Arg121Gly chrX 43565337 43565340 VAR_005501 - Q00604:p.Arg121Gln chrX 43565337 43565340 VAR_005502 - Q00604:p.Arg121Trp chrX 43565331 43565334 VAR_005504 - Q00604:p.Ile123Asn chrX 43565328 43565331 VAR_005505 - Q00604:p.Leu124Phe chr14 20560469 20560472 VAR_026572 - Q9UN36:p.Gly48Val chr4 119333457 119333460 VAR_036131 + O95803:p.His264Gln chrX 118787777 118787780 VAR_035099 + O15239:p.Gly8Arg chrX 118787849 118787852 VAR_014485 + O15239:p.Gly32Arg chrX 118789154 118789157 VAR_035100 + O15239:p.Arg37Ser chrX 118789202 118789205 VAR_036173 + O15239:p.Arg53Cys chr5 140007082 140007085 VAR_036174 - O43678:p.Asp50Asn chr19 59301949 59301952 VAR_036175 + O95167:p.Asn62Asp chr9 121986172 121986175 VAR_036176 - P51970:p.Asn140His chr2 240684702 240684705 VAR_034149 - O95299:p.Ala2Gly chr8 125631209 125631212 VAR_014484 + Q9Y6M9:p.Pro146Ser chr11 77468300 77468303 VAR_014486 - O95298:p.Leu46Val chr2 206837146 206837149 VAR_025511 - P28331:p.Arg241Gln chr2 206837146 206837149 VAR_019532 - P28331:p.Arg241Trp chr2 206835237 206835240 VAR_019533 - P28331:p.Asp252Gly chr2 206817011 206817014 VAR_018463 - P28331:p.Val649Phe chr1 157985305 157985308 VAR_034150 + O75306:p.Pro20Thr chr1 157992773 157992776 VAR_019535 + O75306:p.Arg228Gln chr1 157992776 157992779 VAR_034151 + O75306:p.Pro229Ala chr1 157992776 157992779 VAR_019536 + O75306:p.Pro229Gln chr1 157995280 157995283 VAR_034152 + O75306:p.Pro352Ala chr1 157996535 157996538 VAR_019537 + O75306:p.Ser413Pro chr11 47562558 47562561 VAR_012036 + O75489:p.Pro249Gln chr5 53014799 53014802 VAR_012037 + O43181:p.Thr174Pro chr11 67557188 67557191 VAR_019538 + O00217:p.Pro79Leu chr11 67557257 67557260 VAR_019539 + O00217:p.Arg102His chr11 67132668 67132671 VAR_014480 + P49821:p.Ile76Val chr11 67134556 67134559 VAR_019534 + P49821:p.Glu214Lys chr11 67135169 67135172 VAR_014481 + P49821:p.Asn277Tyr chr11 67135556 67135559 VAR_008846 + P49821:p.Ala341Val chr11 67136270 67136273 VAR_008847 + P49821:p.Thr423Met chr18 9107865 9107868 VAR_016167 + P19404:p.Val29Ala chr10 21198695 21198698 VAR_010289 - O76041:p.Gln187His chr10 21197625 21197628 VAR_021887 - O76041:p.Ala219Asp chr10 21179392 21179395 VAR_010290 - O76041:p.Met351Val chr10 21152142 21152145 VAR_010291 - O76041:p.Asn654Lys chr10 21144616 21144619 VAR_010292 - O76041:p.Thr728Ala chr2 152229724 152229727 VAR_024240 - P20929:p.Asp5030Val chr2 152198480 152198483 VAR_021888 - P20929:p.Gly5934Glu chr5 95790717 95790720 VAR_013906 - P29120:p.Arg80Gln chr5 95777562 95777565 VAR_022777 - P29120:p.213del chr5 95777538 95777541 VAR_013907 - P29120:p.Asn221Asp chr5 95760477 95760480 VAR_022778 - P29120:p.Gly483Arg chr5 95754727 95754730 VAR_013908 - P29120:p.Gln665Glu chr5 95754652 95754655 VAR_013909 - P29120:p.Ser690Thr chr20 17394037 17394040 VAR_036548 + P16519:p.Asp424Asn chr12 8136911 8136914 VAR_034153 + Q8NC96:p.Asp224Asn chr1 16520957 16520960 VAR_034154 + Q9NVZ3:p.Asp149Ala chr18 54152101 54152104 VAR_023415 + Q96PU5:p.Pro355Leu chr18 54161228 54161231 VAR_023416 + Q96PU5:p.Ser497Arg chr15 73428542 73428545 VAR_020580 + Q96FI4:p.Ser82Cys chr15 73428545 73428548 VAR_020581 + Q96FI4:p.Gly83Asp chr15 73428704 73428707 VAR_020582 + Q96FI4:p.Cys136Arg chr15 73431613 73431616 VAR_020583 + Q96FI4:p.Ile182Met chr15 73433167 73433170 VAR_020584 + Q96FI4:p.Asp252Asn chr8 11674584 11674587 VAR_020585 + Q969S2:p.Thr70Ser chr8 11674683 11674686 VAR_020586 + Q969S2:p.Arg103Gln chr8 11674683 11674686 VAR_020587 + Q969S2:p.Arg103Trp chr8 11680960 11680963 VAR_020588 + Q969S2:p.Arg257Leu chr8 11681101 11681104 VAR_020589 + Q969S2:p.Pro304Thr chr4 178606367 178606370 VAR_025806 + Q8TAT5:p.Arg38Cys chr4 178618776 178618779 VAR_025807 + Q8TAT5:p.Asn58Asn chr4 178618830 178618833 VAR_025808 + Q8TAT5:p.Val76Met chr4 178632060 178632063 VAR_020590 + Q8TAT5:p.Pro117Arg chr4 178632510 178632513 VAR_025809 + Q8TAT5:p.Gln172His chr4 178637931 178637934 VAR_025810 + Q8TAT5:p.His286Arg chr4 178647848 178647851 VAR_025811 + Q8TAT5:p.Ile346Val chr4 178658594 178658597 VAR_025813 + Q8TAT5:p.Ala547Ser chr4 178658621 178658624 VAR_025814 + Q8TAT5:p.His556Arg chr3 132282115 132282118 VAR_040935 + Q8NG66:p.Thr108Met chr3 132311374 132311377 VAR_040936 + Q8NG66:p.Tyr123Cys chr3 132335487 132335490 VAR_040937 + Q8NG66:p.Ser213Leu chr3 132354068 132354071 VAR_040938 + Q8NG66:p.Ile263Val chr3 132372380 132372383 VAR_040939 + Q8NG66:p.Glu451Lys chr3 132430143 132430146 VAR_040941 + Q8NG66:p.Glu492Lys chr3 132475039 132475042 VAR_040942 + Q8NG66:p.Met548Thr chr3 132475081 132475084 VAR_033907 + Q8NG66:p.Val562Ala chr3 132551195 132551198 VAR_040943 + Q8NG66:p.Glu606Lys chr3 132551228 132551231 VAR_040944 + Q8NG66:p.Asp617Asn chr1 208228891 208228894 VAR_019990 - P51955:p.Asn354Ser chr14 74643838 74643841 VAR_027900 - Q8TD19:p.Arg429His chr14 74625055 74625058 VAR_040926 - Q8TD19:p.Pro828Thr chr14 74623680 74623683 VAR_040927 - Q8TD19:p.Pro870Ser chr9 137619942 137619945 VAR_023003 - Q6X4W1:p.Thr480Ala chr11 20915969 20915972 VAR_020167 + Q92832:p.Arg354Trp chr11 21512506 21512509 VAR_035834 + Q92832:p.Cys553Phe chrX 153344089 153344092 VAR_026491 + Q9Y6K9:p.Glu57Lys chrX 153348163 153348166 VAR_026492 + Q9Y6K9:p.90del chrX 153348232 153348235 VAR_026493 + Q9Y6K9:p.Asp113Asn chrX 153348262 153348265 VAR_026494 + Q9Y6K9:p.Arg123Trp chrX 153350507 153350510 VAR_026495 + Q9Y6K9:p.Leu153Arg chrX 153350567 153350569 VAR_031958 + Q9Y6K9:p.Arg173Gly chrX 153352325 153352326 VAR_031958 + Q9Y6K9:p.Arg173Gly chrX 153352329 153352332 VAR_011320 + Q9Y6K9:p.Arg175Pro chrX 153353613 153353616 VAR_011321 + Q9Y6K9:p.Leu227Pro chrX 153354821 153354824 VAR_011322 + Q9Y6K9:p.Ala288Gly chrX 153355495 153355498 VAR_011323 + Q9Y6K9:p.Asp311Asn chrX 153355507 153355510 VAR_031959 + Q9Y6K9:p.Glu315Ala chrX 153355519 153355522 VAR_031960 + Q9Y6K9:p.Arg319Gln chrX 153355531 153355534 VAR_042666 + Q9Y6K9:p.Ala323Pro chrX 153356335 153356338 VAR_011324 + Q9Y6K9:p.Asp406Val chrX 153356338 153356341 VAR_009182 + Q9Y6K9:p.Met407Val chrX 153356368 153356371 VAR_011325 + Q9Y6K9:p.Cys417Phe chrX 153356368 153356371 VAR_011326 + Q9Y6K9:p.Cys417Arg chrX 153356368 153356371 VAR_026496 + Q9Y6K9:p.Cys417Tyr chr17 9006886 9006889 VAR_014279 + O95631:p.Arg351His chr17 9065262 9065265 VAR_014280 + O95631:p.Lys489Glu chr12 94634360 94634363 VAR_023548 - Q9HB63:p.Tyr205His chr20 3013269 3013272 VAR_004980 - P01185:p.Ser17Phe chr20 3013263 3013266 VAR_004981 - P01185:p.Ala19Thr chr20 3013263 3013266 VAR_004982 - P01185:p.Ala19Val chr20 3013257 3013260 VAR_015262 - P01185:p.Tyr21His chr20 3013242 3013245 VAR_015263 - P01185:p.Pro26Leu chr20 3011809 3011812 VAR_004983 - P01185:p.Gly45Arg chr20 3011800 3011803 VAR_004984 - P01185:p.Gly48Val chr20 3011791 3011794 VAR_004985 - P01185:p.Arg51Cys chr20 3011788 3011791 VAR_015264 - P01185:p.Cys52Arg chr20 3011782 3011785 VAR_015265 - P01185:p.Gly54Arg chr20 3011782 3011785 VAR_015266 - P01185:p.Gly54Val chr20 3011779 3011782 VAR_004986 - P01185:p.Pro55Leu chr20 3011770 3011773 VAR_029997 - P01185:p.Cys58Phe chr20 3011767 3011770 VAR_015267 - P01185:p.Cys59Arg chr20 3011767 3011770 VAR_015268 - P01185:p.Cys59Tyr chr20 3011743 3011746 VAR_019273 - P01185:p.Val67Ala chr20 3011710 3011713 VAR_004988 - P01185:p.Glu78Gly chr20 3011710 3011713 VAR_004987 - P01185:p.78del chr20 3011701 3011704 VAR_004989 - P01185:p.Leu81Pro chr20 3011698 3011701 VAR_011894 - P01185:p.Pro82Leu chr20 3011683 3011686 VAR_015269 - P01185:p.Ser87Phe chr20 3011680 3011683 VAR_004990 - P01185:p.Gly88Arg chr20 3011680 3011683 VAR_004991 - P01185:p.Gly88Ser chr20 3011668 3011671 VAR_004992 - P01185:p.Cys92Ser chr20 3011668 3011671 VAR_015270 - P01185:p.Cys92Tyr chr20 3011665 3011668 VAR_004993 - P01185:p.Gly93Trp chr20 3011656 3011659 VAR_004994 - P01185:p.Gly96Cys chr20 3011656 3011659 VAR_019274 - P01185:p.Gly96Asp chr20 3011656 3011659 VAR_015271 - P01185:p.Gly96Val chr20 3011653 3011656 VAR_015272 - P01185:p.Arg97Cys chr20 3011653 3011656 VAR_015273 - P01185:p.Arg97Pro chr20 3011650 3011653 VAR_015274 - P01185:p.Cys98Gly chr20 3011650 3011653 VAR_029998 - P01185:p.Cys98Ser chr20 3011647 3011650 VAR_029999 - P01185:p.Ala99Pro chr20 3011632 3011635 VAR_015275 - P01185:p.Cys104Phe chr20 3011632 3011635 VAR_019275 - P01185:p.Cys104Gly chr20 3011629 3011632 VAR_015276 - P01185:p.Cys105Arg chr20 3011629 3011632 VAR_015279 - P01185:p.Cys105Tyr chr20 3011422 3011425 VAR_015277 - P01185:p.Cys116Gly chr20 3011422 3011425 VAR_015278 - P01185:p.Cys116Arg chr20 3011422 3011425 VAR_019276 - P01185:p.Cys116Trp chr20 3011413 3011416 VAR_011895 - P01185:p.Gly119Val chr3 116877693 116877696 VAR_014172 + P17677:p.Val59Ile chr6 31937944 31937947 VAR_012207 - Q99519:p.Val54Met chr6 31937902 31937905 VAR_012208 - Q99519:p.Gly68Val chr6 31937866 31937869 VAR_017460 - Q99519:p.Pro80Leu chr6 31937833 31937836 VAR_012209 - Q99519:p.Leu91Arg chr6 31937012 31937015 VAR_012210 - Q99519:p.Ser182Gly chr6 31936341 31936344 VAR_012211 - Q99519:p.Val217Met chr6 31936335 31936338 VAR_012212 - Q99519:p.Gly219Ala chr6 31936317 31936320 VAR_018076 - Q99519:p.Arg225Pro chr6 31936311 31936314 VAR_012213 - Q99519:p.Gly227Arg chr6 31936299 31936302 VAR_012214 - Q99519:p.Leu231His chr6 31936272 31936275 VAR_012215 - Q99519:p.Trp240Arg chr6 31936263 31936266 VAR_012216 - Q99519:p.Gly243Arg chr6 31936212 31936215 VAR_012217 - Q99519:p.Phe260Tyr chr6 31936008 31936011 VAR_012219 - Q99519:p.Leu270Phe chr6 31936008 31936011 VAR_012218 - Q99519:p.Leu270Pro chr6 31935936 31935939 VAR_012220 - Q99519:p.Arg294Ser chr6 31935924 31935927 VAR_012221 - Q99519:p.Ala298Val chr6 31935870 31935873 VAR_017461 - Q99519:p.Pro316Ser chr6 31935834 31935837 VAR_012222 - Q99519:p.Gly328Ser chr6 31935813 31935816 VAR_012223 - Q99519:p.Pro335Gln chr6 31935633 31935636 VAR_012224 - Q99519:p.Leu363Pro chr6 31935612 31935615 VAR_012225 - Q99519:p.Tyr370Cys chr6 31935522 31935525 VAR_012226 - Q99519:p.Tyr400Tyr chr2 233722916 233722919 VAR_024461 + Q9Y3R4:p.Ser11Arg chr2 233723006 233723009 VAR_024462 + Q9Y3R4:p.Arg41Gln chr3 168989762 168989765 VAR_008520 + Q99574:p.Ser49Pro chr3 168989771 168989774 VAR_008521 + Q99574:p.Ser52Arg chr17 26507156 26507159 VAR_032459 + P21359:p.His31Arg chr17 26510168 26510171 VAR_017550 + P21359:p.Ala74Asp chr17 26510186 26510189 VAR_022254 + P21359:p.Tyr80Cys chr17 26510192 26510195 VAR_021730 + P21359:p.Ser82Phe chr17 26510225 26510228 VAR_017551 + P21359:p.Cys93Tyr chr17 26514389 26514392 VAR_010989 + P21359:p.Ile117Ser chr17 26514473 26514476 VAR_032460 + P21359:p.Leu145Pro chr17 26514509 26514512 VAR_021731 + P21359:p.Ile157Asn chr17 26521080 26521083 VAR_017552 + P21359:p.Asp176Glu chr17 26521110 26521113 VAR_032461 + P21359:p.Asp186Val chr17 26521134 26521137 VAR_032462 + P21359:p.Leu194Arg chr17 26532624 26532627 VAR_021732 + P21359:p.Leu216Pro chr17 26551646 26551649 VAR_032463 + P21359:p.Cys324Arg chr17 26551685 26551688 VAR_032464 + P21359:p.Glu337Val chr17 26551688 26551691 VAR_010990 + P21359:p.Asp338Gly chr17 26552186 26552189 VAR_021733 + P21359:p.Leu357Pro chr17 26565666 26565669 VAR_032465 + P21359:p.Tyr489Cys chr17 26565672 26565675 VAR_021734 + P21359:p.Tyr491Cys chr17 26565723 26565726 VAR_010991 + P21359:p.Leu508Pro chr17 26570214 26570217 VAR_032466 + P21359:p.Leu532Pro chr17 26572996 26572999 VAR_021735 + P21359:p.Leu549Pro chr17 26573071 26573073 VAR_032467 + P21359:p.Ser574Arg chr17 26574587 26574588 VAR_032467 + P21359:p.Ser574Arg chr17 26574597 26574600 VAR_021736 + P21359:p.Leu578Arg chr17 26574606 26574609 VAR_021737 + P21359:p.Ile581Thr chr17 26574612 26574615 VAR_021738 + P21359:p.Lys583Arg chr17 26574675 26574678 VAR_017553 + P21359:p.Leu604Val chr17 26576277 26576280 VAR_002653 + P21359:p.Gly629Arg chr17 26576385 26576388 VAR_021739 + P21359:p.Ser665Phe chr17 26577608 26577611 VAR_022255 + P21359:p.Pro678Leu chr17 26577659 26577662 VAR_021740 + P21359:p.Leu695Pro chr17 26577710 26577713 VAR_017554 + P21359:p.His712Arg chr17 26578396 26578399 VAR_021741 + P21359:p.Leu763Pro chr17 26578402 26578405 VAR_021742 + P21359:p.Arg765His chr17 26578669 26578672 VAR_021743 + P21359:p.Trp777Ser chr17 26578678 26578681 VAR_021744 + P21359:p.Thr780Lys chr17 26578681 26578684 VAR_021745 + P21359:p.His781Pro chr17 26578690 26578693 VAR_021746 + P21359:p.Trp784Cys chr17 26578690 26578693 VAR_021747 + P21359:p.Trp784Arg chr17 26580288 26580291 VAR_010992 + P21359:p.Leu844Phe chr17 26580288 26580291 VAR_032468 + P21359:p.Leu844Pro chr17 26580288 26580291 VAR_002654 + P21359:p.Leu844Arg chr17 26580297 26580300 VAR_021748 + P21359:p.Leu847Pro chr17 26580300 26580303 VAR_021749 + P21359:p.Gly848Glu chr17 26580375 26580378 VAR_032469 + P21359:p.Arg873Cys chr17 26580450 26580453 VAR_002655 + P21359:p.Leu898Pro chr17 26580516 26580519 VAR_021750 + P21359:p.Leu920Pro chr17 26581029 26581032 VAR_021751 + P21359:p.Met968Arg chr17 26581098 26581101 VAR_002656 + P21359:p.991del chr17 26581515 26581518 VAR_002657 + P21359:p.Met1035Arg chr17 26583235 26583238 VAR_032470 + P21359:p.Met1073Val chr17 26583967 26583970 VAR_021752 + P21359:p.Leu1147Pro chr17 26583994 26583997 VAR_021753 + P21359:p.Asn1156Ser chr17 26584024 26584025 VAR_010993 + P21359:p.Gly1166Asp chr17 26584145 26584147 VAR_010993 + P21359:p.Gly1166Asp chr17 26584207 26584210 VAR_035543 + P21359:p.Leu1187Ile chr17 26584225 26584228 VAR_021754 + P21359:p.Phe1193Cys chr17 26584234 26584237 VAR_032471 + P21359:p.Leu1196Arg chr17 26584258 26584261 VAR_021755 + P21359:p.Arg1204Gly chr17 26584258 26584261 VAR_010994 + P21359:p.Arg1204Trp chr17 26586772 26586775 VAR_032472 + P21359:p.Leu1243Pro chr17 26586793 26586796 VAR_021756 + P21359:p.Arg1250Pro chr17 26586871 26586874 VAR_032473 + P21359:p.Arg1276Gly chr17 26586871 26586874 VAR_010995 + P21359:p.Arg1276Pro chr17 26586871 26586874 VAR_017555 + P21359:p.Arg1276Gln chr17 26609547 26609550 VAR_010996 + P21359:p.Arg1412Ser chr17 26609577 26609580 VAR_022256 + P21359:p.Tyr1422His chr17 26609601 26609604 VAR_032474 + P21359:p.Lys1430Glu chr17 26609631 26609634 VAR_010997 + P21359:p.Lys1440Gln chr17 26609631 26609634 VAR_002658 + P21359:p.Lys1440Arg chr17 26609643 26609646 VAR_002659 + P21359:p.Lys1444Glu chr17 26609643 26609646 VAR_021757 + P21359:p.Lys1444Asn chr17 26609643 26609646 VAR_021758 + P21359:p.Lys1444Arg chr17 26610178 26610181 VAR_008129 + P21359:p.Leu1446Pro chr17 26610193 26610196 VAR_032475 + P21359:p.Asn1451Thr chr17 26610199 26610202 VAR_032476 + P21359:p.Val1453Leu chr17 26610217 26610220 VAR_032477 + P21359:p.1459del chr17 26611546 26611549 VAR_010998 + P21359:p.Ser1489Gly chr17 26616460 26616463 VAR_021759 + P21359:p.Ile1605Val chr17 26616478 26616481 VAR_002660 + P21359:p.Arg1611Trp chr17 26677324 26677327 VAR_002661 + P21359:p.Leu1733Leu chr17 26678726 26678729 VAR_021760 + P21359:p.Ala1785Ser chr17 26686019 26686022 VAR_035544 + P21359:p.Pro1951Leu chr17 26686022 26686025 VAR_002662 + P21359:p.Trp1952Arg chr17 26686025 26686028 VAR_002663 + P21359:p.Leu1953Pro chr17 26686025 26686028 VAR_021761 + P21359:p.1953del chr17 26686169 26686172 VAR_021762 + P21359:p.Gly2001Arg chr17 26687503 26687506 VAR_021763 + P21359:p.Asp2012Asn chr17 26687892 26687895 VAR_017669 + P21359:p.Leu2088Pro chr17 26688573 26688576 VAR_002664 + P21359:p.Leu2164Met chr17 26688657 26688660 VAR_002665 + P21359:p.Tyr2192Asn chr17 26688980 26688983 VAR_021764 + P21359:p.Pro2221Ala chr17 26694158 26694161 VAR_021765 + P21359:p.Glu2357Lys chr17 26694248 26694254 VAR_002666 + P21359:p.2387_2388del chr17 26703461 26703464 VAR_021766 + P21359:p.Thr2507Ile chr17 26703473 26703476 VAR_022257 + P21359:p.Val2511Leu chr17 26708433 26708436 VAR_002667 + P21359:p.Thr2631Ala chr17 26711702 26711705 VAR_035545 + P21359:p.Gly2745Arg chr16 28869929 28869932 VAR_031208 + Q8NCF5:p.Arg33Trp chr2 177924422 177924425 VAR_032110 - Q16236:p.Arg43Gln chr2 177924254 177924257 VAR_020322 - Q16236:p.Ser99Pro chr2 177922033 177922036 VAR_032111 - Q16236:p.Val268Met chr22 28210568 28210571 VAR_023063 + P12036:p.796del chr22 28210613 28210616 VAR_026163 + P12036:p.Glu811Ala chr13 78993029 78993032 VAR_023414 + Q9NV92:p.Ala136Val chr10 104146017 104146020 VAR_022223 + Q00653:p.Glu14Lys chr10 104148544 104148547 VAR_022224 + Q00653:p.Gly351Arg chr10 104149349 104149352 VAR_022225 + Q00653:p.Gly452Arg chr10 104150723 104150732 VAR_006909 + Q00653:p.Ala667_Asn669delinsSerAlaSer chr1 40892990 40892993 VAR_035702 + Q13952:p.Gln165His chr1 175143475 175143478 VAR_035541 + Q9UJF2:p.Arg165Trp chr1 175146405 175146408 VAR_035542 + Q9UJF2:p.Glu379Asp chr6 118121004 118121007 VAR_030092 + Q96E22:p.Asn175Tyr chr6 118121016 118121019 VAR_030093 + Q96E22:p.Asp179Glu chr6 118121972 118121975 VAR_030094 + Q96E22:p.210del chr6 118121990 118121993 VAR_030095 + Q96E22:p.Lys216Arg chr6 118121999 118122002 VAR_030096 + Q96E22:p.Thr219Lys chr2 233664871 233664874 VAR_027289 - Q8N5V2:p.Arg78Gly chr2 233660478 233660481 VAR_027290 - Q8N5V2:p.Met111Thr chr1 115541353 115541356 VAR_013783 - P01138:p.Ala35Val chr1 115541242 115541245 VAR_025553 - P01138:p.Val72Met chr1 115541218 115541221 VAR_025554 - P01138:p.Arg80Gln chr1 115540795 115540798 VAR_030659 - P01138:p.Arg221Trp chr3 25736554 25736557 VAR_027385 - Q96IV0:p.Val581Ile chr3 25736524 25736527 VAR_027386 - Q96IV0:p.Gln591Arg chr22 40400814 40400817 VAR_034155 - P55769:p.Thr19Asn chr2 219848547 219848550 VAR_038790 - Q9H9Q4:p.Ala14Thr chr2 219848418 219848421 VAR_025704 - Q9H9Q4:p.Arg57Gly chr2 219847821 219847824 VAR_038791 - Q9H9Q4:p.His89Arg chr2 219847719 219847722 VAR_025705 - Q9H9Q4:p.Cys123Arg chr2 219767529 219767532 VAR_038792 - Q9H9Q4:p.Gln256Leu chr17 70256907 70256910 VAR_034899 + O14745:p.Leu110Val chr6 18230738 18230741 VAR_019482 - Q6VVB1:p.Cys26Ser chr6 18230717 18230720 VAR_019483 - Q6VVB1:p.Phe33Ser chr6 18230609 18230612 VAR_019484 - Q6VVB1:p.Pro69Ala chr6 18230555 18230558 VAR_019485 - Q6VVB1:p.Leu87Pro chr6 18230483 18230486 VAR_019486 - Q6VVB1:p.Pro111Leu chr6 18230378 18230381 VAR_019487 - Q6VVB1:p.Asp146Asn chr6 18229910 18229913 VAR_019488 - Q6VVB1:p.Gln302Pro chr10 115634029 115634032 VAR_037749 + Q8NBF2:p.Val314Ile chrX 17504475 17504478 VAR_036225 + Q6T4R5:p.Ala844Thr chrX 17505900 17505903 VAR_021527 + Q6T4R5:p.Phe1319Leu chrX 17509950 17509953 VAR_021528 + Q6T4R5:p.Ser1535Thr chr1 232513531 232513534 VAR_021904 - P14543:p.Gln669Arg chr1 232471070 232471073 VAR_035835 - P14543:p.Phe1036Ser chr14 51547351 51547354 VAR_035836 - Q14112:p.Pro1238Ser chr14 50293486 50293489 VAR_019454 - Q8N4C6:p.Glu1320Gly chr16 67933023 67933026 VAR_036488 + Q9Y221:p.Glu171Gln chr15 20637717 20637720 VAR_023440 - Q7RTP0:p.Thr45Arg chr15 20604195 20604196 VAR_023441 - Q7RTP0:p.Gly106Arg chr15 20612255 20612257 VAR_023441 - Q7RTP0:p.Gly106Arg chr7 129258260 129258263 VAR_023312 - Q86WB0:p.Thr271Ala chr7 129257445 129257448 VAR_023313 - Q86WB0:p.Arg363His chr5 36997386 36997389 VAR_019518 + Q6KC79:p.Ser135Asn chr5 37007812 37007815 VAR_038411 + Q6KC79:p.Ser261Ala chr5 37011915 37011918 VAR_038412 + Q6KC79:p.Asn384Ser chr5 37021058 37021061 VAR_021596 + Q6KC79:p.Asn674Ser chr5 37036888 37036891 VAR_021597 + Q6KC79:p.Ile1206Val chr5 37036888 37036891 VAR_038413 + Q6KC79:p.1206del chr5 37038591 37038594 VAR_021598 + Q6KC79:p.Ala1246Gly chr5 37042290 37042293 VAR_019519 + Q6KC79:p.Cys1311Arg chr5 37042293 37042296 VAR_021599 + Q6KC79:p.Leu1312Pro chr5 37042401 37042404 VAR_019520 + Q6KC79:p.Leu1348Arg chr5 37055187 37055190 VAR_036164 + Q6KC79:p.Glu1647Lys chr5 37057945 37057948 VAR_021600 + Q6KC79:p.Arg1789Leu chr5 37057987 37057990 VAR_021601 + Q6KC79:p.Asp1803Val chr5 37058240 37058243 VAR_021602 + Q6KC79:p.Arg1856Thr chr5 37085097 37085100 VAR_021603 + Q6KC79:p.Arg2298Cys chr5 37085097 37085100 VAR_021604 + Q6KC79:p.Arg2298His chr5 37085139 37085142 VAR_021605 + Q6KC79:p.Gly2312Arg chr5 37088302 37088305 VAR_021606 + Q6KC79:p.Gly2381Ala chr5 37088329 37088332 VAR_021607 + Q6KC79:p.Ala2390Thr chr5 37093068 37093071 VAR_019521 + Q6KC79:p.Tyr2430Cys chr5 37093098 37093101 VAR_021608 + Q6KC79:p.Tyr2440His chr22 28279467 28279470 VAR_011630 - Q9BPW8:p.Glu245Lys chr2 75259362 75259365 VAR_026826 - P25103:p.Tyr192His chr8 63822188 63822191 VAR_029583 + Q8N8D7:p.Val140Ile chr20 61350611 61350614 VAR_037051 - Q8IVV8:p.Lys91Gln chr20 61349452 61349455 VAR_037052 - Q8IVV8:p.Ala131Asp chr20 61349392 61349395 VAR_037053 - Q8IVV8:p.Cys151Gly chr20 61345833 61345836 VAR_037054 - Q8IVV8:p.Glu173Asp chr6 28335413 28335416 VAR_028999 + Q5M9Q1:p.Tyr96Cys chr6 28335581 28335584 VAR_029000 + Q5M9Q1:p.Thr152Asn chr6 28335611 28335614 VAR_029001 + Q5M9Q1:p.His162Tyr chr5 1089480 1089483 VAR_034934 + Q969F2:p.Thr257Lys chr12 10421999 10422002 VAR_030738 - P26718:p.Asn177Ser chr12 10462290 10462293 VAR_014660 - Q07444:p.Arg135Ser chr19 50348514 50348517 VAR_033146 - Q17RQ9:p.Val118Leu chr14 36056734 36056737 VAR_034906 - P43699:p.Val205Phe chr14 36056725 36056728 VAR_015188 - P43699:p.Trp208Leu chr14 36056710 36056713 VAR_015189 - P43699:p.Arg213Ser chr5 172594671 172594674 VAR_038212 - P52952:p.Leu7Pro chr5 172594647 172594650 VAR_038213 - P52952:p.Lys15Ile chr5 172594635 172594638 VAR_038214 - P52952:p.Asn19Ser chr5 172594629 172594632 VAR_038215 - P52952:p.Glu21Gln chr5 172594626 172594629 VAR_038216 - P52952:p.Gln22Pro chr5 172594617 172594620 VAR_010116 - P52952:p.Arg25Cys chr5 172594557 172594560 VAR_038217 - P52952:p.Ser45Pro chr5 172594539 172594542 VAR_038218 - P52952:p.Phe51Leu chr5 172594503 172594506 VAR_038219 - P52952:p.Ala63Val chr5 172594485 172594488 VAR_038220 - P52952:p.Leu69Pro chr5 172594461 172594464 VAR_038221 - P52952:p.Pro77Leu chr5 172592810 172592813 VAR_038222 - P52952:p.Cys114Arg chr5 172592810 172592813 VAR_038223 - P52952:p.Cys114Ser chr5 172592798 172592801 VAR_038224 - P52952:p.Lys118Arg chr5 172592780 172592783 VAR_038225 - P52952:p.Lys124Arg chr5 172592774 172592777 VAR_038226 - P52952:p.Glu126Val chr5 172592771 172592774 VAR_038227 - P52952:p.Ala127Glu chr5 172592753 172592756 VAR_038228 - P52952:p.Pro133Ser chr5 172592747 172592750 VAR_038229 - P52952:p.Ala135Thr chr5 172592726 172592729 VAR_038230 - P52952:p.Arg142Cys chr5 172592720 172592723 VAR_038231 - P52952:p.Leu144Pro chr5 172592618 172592621 VAR_003752 - P52952:p.Thr178Met chr5 172592603 172592606 VAR_038232 - P52952:p.Lys183Glu chr5 172592591 172592594 VAR_038233 - P52952:p.Gln187His chr5 172592588 172592591 VAR_010117 - P52952:p.Asn188Lys chr5 172592585 172592588 VAR_010118 - P52952:p.Arg189Gly chr5 172592582 172592585 VAR_038234 - P52952:p.Arg190Cys chr5 172592579 172592582 VAR_010119 - P52952:p.Tyr191Cys chr5 172592576 172592579 VAR_038235 - P52952:p.Lys192Arg chr5 172592576 172592579 VAR_038236 - P52952:p.Lys192Thr chr5 172592570 172592573 VAR_038237 - P52952:p.Lys194Arg chr5 172592537 172592540 VAR_038238 - P52952:p.Val205Glu chr5 172592504 172592507 VAR_038239 - P52952:p.Arg216Cys chr5 172592495 172592498 VAR_038240 - P52952:p.Ala219Val chr5 172592474 172592477 VAR_038241 - P52952:p.Asp226Asn chr5 172592408 172592411 VAR_038242 - P52952:p.Tyr248His chr5 172592327 172592330 VAR_038243 - P52952:p.Pro275Thr chr5 172592315 172592318 VAR_038244 - P52952:p.Ser279Phe chr5 172592315 172592318 VAR_038245 - P52952:p.Ser279Pro chr5 172592309 172592312 VAR_038246 - P52952:p.Ala281Val chr5 172592294 172592297 VAR_038247 - P52952:p.Ala286Val chr5 172592270 172592273 VAR_038248 - P52952:p.Asn294His chr5 172592255 172592258 VAR_038249 - P52952:p.Asp299Gly chr5 172592237 172592240 VAR_038250 - P52952:p.Ser305Gly chr5 172592192 172592195 VAR_038251 - P52952:p.Gly320Ser chr5 172592186 172592189 VAR_038252 - P52952:p.Arg322Gln chr5 172592183 172592186 VAR_038253 - P52952:p.Ala323Thr chr8 23596191 23596194 VAR_011612 - Q99801:p.Arg52Cys chr17 30487500 30487503 VAR_035886 - Q9NVX2:p.Gln319Lys chrX 5686999 5687002 VAR_036576 - Q8N0W4:p.Gly214Ser chr17 23473825 23473828 VAR_019549 + Q9UBE8:p.Val165Ala chr17 23519789 23519792 VAR_042273 + Q9UBE8:p.Ala331Thr chr16 55616983 55616986 VAR_034607 + Q86WI3:p.Ser210Leu chr16 55617436 55617439 VAR_036388 + Q86WI3:p.Met361Ile chr16 55617712 55617715 VAR_034608 + Q86WI3:p.Pro453Leu chr16 55617853 55617856 VAR_034609 + Q86WI3:p.Cys500Arg chr16 55625035 55625038 VAR_034610 + Q86WI3:p.Ser833Asn chr16 55638028 55638031 VAR_034611 + Q86WI3:p.Gln1105Lys chr16 55658839 55658842 VAR_034612 + Q86WI3:p.Val1455Ala chr16 55658872 55658875 VAR_034613 + Q86WI3:p.Gln1466Arg chr11 118548865 118548868 VAR_034614 + Q86UT6:p.Pro63Ser chr11 118549540 118549543 VAR_034615 + Q86UT6:p.Arg125Leu chr11 118558034 118558037 VAR_034616 + Q86UT6:p.Ala793Glu chr11 118558184 118558187 VAR_034617 + Q86UT6:p.Ala843Ser chr1 53139261 53139264 VAR_035706 + P22307:p.Ala155Asp chr19 954170 954173 VAR_019676 + O60391:p.Thr157Met chr19 955709 955712 VAR_019677 + O60391:p.Arg404Trp chr19 955739 955742 VAR_019678 + O60391:p.Trp414Arg chr19 956228 956231 VAR_019679 + O60391:p.Thr577Met chr19 959682 959685 VAR_019680 + O60391:p.Ala845Thr chr16 9939513 9939516 VAR_010938 - Q12879:p.Lys270Glu chr17 70350243 70350246 VAR_037634 - Q14957:p.Arg1209Ser chr19 53593878 53593881 VAR_035698 + O15399:p.Pro140Ser chr19 53600192 53600195 VAR_035699 + O15399:p.Gly286Arg chr19 53610098 53610101 VAR_035700 + O15399:p.Glu527Gly chr2 151964922 151964925 VAR_028190 - Q13287:p.Ser16Leu chr16 4459438 4459441 VAR_030689 - Q9HBL8:p.Thr23Ile chr16 4451925 4451928 VAR_030690 - Q9HBL8:p.Pro252Leu chr2 100545483 100545486 VAR_029495 + Q5H8A3:p.Pro6Ser chr5 151755255 151755258 VAR_023941 - Q9GZQ4:p.Ser298Thr chr5 151752247 151752250 VAR_023942 - Q9GZQ4:p.Phe315Leu chr5 151752043 151752046 VAR_032770 - Q9GZQ4:p.Pro383Leu chr5 151752028 151752031 VAR_023943 - Q9GZQ4:p.Met388Val chr1 929379 929382 VAR_028145 - Q9Y3T9:p.Ala271Val chr10 96104823 96104826 VAR_023549 - Q8WTT2:p.Pro194Leu chr10 96094653 96094656 VAR_023550 - Q8WTT2:p.Glu472Ala chr7 30265474 30265477 VAR_020371 - Q9Y239:p.Glu266Lys chr16 49291066 49291069 VAR_036871 + Q9HC29:p.Leu81Val chr16 49291243 49291246 VAR_012665 + Q9HC29:p.Ala140Thr chr16 49291294 49291297 VAR_012666 + Q9HC29:p.Trp157Arg chr16 49299290 49299293 VAR_012667 + Q9HC29:p.Thr189Met chr16 49302025 49302028 VAR_012668 + Q9HC29:p.Arg235Cys chr16 49302064 49302067 VAR_012669 + Q9HC29:p.Leu248Arg chr16 49302124 49302127 VAR_012670 + Q9HC29:p.Pro268Ser chr16 49302187 49302190 VAR_012671 + Q9HC29:p.Asn289Ser chr16 49302193 49302196 VAR_012672 + Q9HC29:p.Asp291Asn chr16 49302202 49302205 VAR_012673 + Q9HC29:p.Thr294Ser chr16 49302223 49302226 VAR_012674 + Q9HC29:p.Ala301Val chr16 49302253 49302256 VAR_012675 + Q9HC29:p.Arg311Trp chr16 49302322 49302325 VAR_012676 + Q9HC29:p.Arg334Gln chr16 49302322 49302325 VAR_012677 + Q9HC29:p.Arg334Trp chr16 49302364 49302367 VAR_012678 + Q9HC29:p.Leu348Val chr16 49302376 49302379 VAR_012679 + Q9HC29:p.His352Arg chr16 49302439 49302442 VAR_012680 + Q9HC29:p.Arg373Cys chr16 49302466 49302469 VAR_023822 + Q9HC29:p.Asp382Glu chr16 49302469 49302472 VAR_023823 + Q9HC29:p.Glu383Lys chr16 49302562 49302565 VAR_012681 + Q9HC29:p.Asn414Ser chr16 49302613 49302616 VAR_012682 + Q9HC29:p.Ser431Leu chr16 49302616 49302619 VAR_012683 + Q9HC29:p.Ala432Val chr16 49302643 49302646 VAR_012684 + Q9HC29:p.Glu441Lys chr16 49302727 49302730 VAR_012685 + Q9HC29:p.Leu469Phe chr16 49302733 49302736 VAR_036872 + Q9HC29:p.Arg471Cys chr16 49302808 49302811 VAR_023824 + Q9HC29:p.His496Leu chr16 49303156 49303159 VAR_012686 + Q9HC29:p.Ala612Thr chr16 49303156 49303159 VAR_012687 + Q9HC29:p.Ala612Val chr16 49303372 49303375 VAR_012688 + Q9HC29:p.Arg684Trp chr16 49303426 49303429 VAR_012689 + Q9HC29:p.Arg702Trp chr16 49303429 49303432 VAR_012690 + Q9HC29:p.Arg703Cys chr16 49303459 49303462 VAR_012691 + Q9HC29:p.Arg713Cys chr16 49303495 49303498 VAR_012692 + Q9HC29:p.Ala725Gly chr16 49303585 49303588 VAR_012693 + Q9HC29:p.Ala755Val chr16 49303594 49303597 VAR_012694 + Q9HC29:p.Ala758Val chr16 49303654 49303657 VAR_012695 + Q9HC29:p.Glu778Lys chr16 49303690 49303693 VAR_024402 + Q9HC29:p.Arg790Gln chr16 49303699 49303702 VAR_012696 + Q9HC29:p.Val793Met chr16 49308062 49308065 VAR_012697 + Q9HC29:p.Glu843Lys chr16 49308312 49308315 VAR_012698 + Q9HC29:p.Asn853Ser chr16 49308342 49308345 VAR_012699 + Q9HC29:p.Met863Val chr16 49311358 49311361 VAR_012700 + Q9HC29:p.Ala885Thr chr16 49314040 49314043 VAR_012701 + Q9HC29:p.Gly908Arg chr16 49314070 49314073 VAR_012702 + Q9HC29:p.Ala918Asp chr16 49314088 49314091 VAR_012703 + Q9HC29:p.Gly924Asp chr16 49314776 49314779 VAR_012704 + Q9HC29:p.Val955Ile chr10 71865443 71865446 VAR_038193 - Q96S42:p.His165Arg chr10 71865389 71865392 VAR_015111 - Q96S42:p.Arg183Gln chr10 71865329 71865332 VAR_038194 - Q96S42:p.Glu203Lys chr10 71865101 71865104 VAR_036202 - Q96S42:p.Glu279Lys chr17 52026685 52026688 VAR_036997 + Q13253:p.Pro35Ala chr17 52026685 52026688 VAR_011361 + Q13253:p.Pro35Arg chr17 52026685 52026688 VAR_018324 + Q13253:p.Pro35Ser chr17 52026688 52026691 VAR_036998 + Q13253:p.Ala36Pro chr17 52026724 52026727 VAR_036999 + Q13253:p.Glu48Lys chr17 52027081 52027084 VAR_037000 + Q13253:p.Arg167Gly chr17 52027132 52027135 VAR_018325 + Q13253:p.Cys184Tyr chr17 52027141 52027144 VAR_037001 + Q13253:p.Pro187Ser chr17 52027147 52027150 VAR_011362 + Q13253:p.Gly189Cys chr17 52027192 52027195 VAR_018326 + Q13253:p.Arg204Leu chr17 52027195 52027198 VAR_037605 + Q13253:p.Trp205Cys chr17 52027231 52027234 VAR_011363 + Q13253:p.Trp217Gly chr17 52027240 52027243 VAR_011364 + Q13253:p.Ile220Asn chr17 52027246 52027249 VAR_011365 + Q13253:p.Tyr222Cys chr17 52027246 52027249 VAR_011366 + Q13253:p.Tyr222Asp chr17 52027249 52027252 VAR_011367 + Q13253:p.Pro223Leu chr20 2583211 2583214 VAR_028793 + O00567:p.Ile121Val chr20 2586577 2586580 VAR_028794 + O00567:p.Met475Thr chr20 2586880 2586883 VAR_014471 + O00567:p.Val576Ala chr10 103910332 103910335 VAR_031677 + Q14978:p.Gly412Val chr10 103910464 103910467 VAR_031678 + Q14978:p.Ser456Pro chr7 156242270 156242273 VAR_032187 + Q5C9Z4:p.His122Pro chr7 156261292 156261295 VAR_032188 + Q5C9Z4:p.Arg779His chr7 156261699 156261702 VAR_032189 + Q5C9Z4:p.Val804Leu chr7 156261723 156261726 VAR_032190 + Q5C9Z4:p.Val812Met chr16 14859002 14859005 VAR_013312 + Q15155:p.Ile404Val chr16 14864521 14864524 VAR_013313 + Q15155:p.Lys458Asn chr16 14866014 14866017 VAR_013314 + Q15155:p.Asn490Asp chr16 14866023 14866026 VAR_022551 + Q15155:p.Met493Val chr16 14888136 14888139 VAR_011496 + Q15155:p.Glu1081Lys chr16 14890549 14890552 VAR_013315 + Q15155:p.Ile1141Phe chr16 14896916 14896919 VAR_013316 + Q15155:p.Arg1195Gly chr16 18450355 18450358 VAR_034138 - Q5JPE7:p.Asp490Asn chr16 18450346 18450349 VAR_034139 - Q5JPE7:p.Val493Met chr16 18448389 18448392 VAR_016104 - Q5JPE7:p.Val580Met chr16 18439682 18439685 VAR_034140 - Q5JPE7:p.Asn726Lys chr12 116230910 116230913 VAR_018948 - P29475:p.Pro228Ser chr12 116186736 116186739 VAR_018949 - P29475:p.Asp394Ala chr12 116164460 116164463 VAR_018950 - P29475:p.Asn725Asp chr12 116154218 116154221 VAR_018951 - P29475:p.Gly864Asp chr12 116135132 116135135 VAR_018952 - P29475:p.Gln1064Arg chr17 23133226 23133229 VAR_024548 - P35228:p.Arg221Trp chr19 54751976 54751979 VAR_031169 - Q9Y314:p.Thr168Met chr19 15169360 15169363 VAR_012871 - Q9UM47:p.Cys49Tyr chr19 15164314 15164317 VAR_012872 - Q9UM47:p.Trp71Cys chr19 15164257 15164260 VAR_012873 - Q9UM47:p.Arg90Cys chr19 15164197 15164200 VAR_012874 - Q9UM47:p.Arg110Cys chr19 15164050 15164053 VAR_012876 - Q9UM47:p.Arg133Cys chr19 15164026 15164029 VAR_012877 - Q9UM47:p.Arg141Cys chr19 15164011 15164014 VAR_012878 - Q9UM47:p.Cys146Arg chr19 15163990 15163993 VAR_012879 - Q9UM47:p.Arg153Cys chr19 15163942 15163945 VAR_012880 - Q9UM47:p.Arg169Cys chr19 15163939 15163942 VAR_012881 - Q9UM47:p.His170Arg chr19 15163936 15163939 VAR_012882 - Q9UM47:p.Gly171Cys chr19 15163903 15163906 VAR_012883 - Q9UM47:p.Arg182Cys chr19 15163894 15163897 VAR_012884 - Q9UM47:p.Cys185Arg chr19 15163813 15163816 VAR_012885 - Q9UM47:p.Cys212Ser chr19 15163783 15163786 VAR_012886 - Q9UM47:p.Cys222Gly chr19 15163777 15163780 VAR_012887 - Q9UM47:p.Cys224Tyr chr19 15163583 15163586 VAR_012888 - Q9UM47:p.Tyr258Cys chr19 15160049 15160052 VAR_012889 - Q9UM47:p.Pro496Leu chr19 15159129 15159132 VAR_012890 - Q9UM47:p.Cys542Tyr chr19 15159081 15159084 VAR_012891 - Q9UM47:p.Arg558Cys chr19 15159021 15159024 VAR_012892 - Q9UM47:p.Arg578Cys chr19 15157179 15157182 VAR_012893 - Q9UM47:p.Arg728Cys chr19 15152810 15152813 VAR_012894 - Q9UM47:p.Arg985Cys chr19 15152615 15152618 VAR_012895 - Q9UM47:p.Arg1006Cys chr19 15152540 15152543 VAR_012896 - Q9UM47:p.Arg1031Cys chr19 15151235 15151238 VAR_012897 - Q9UM47:p.His1133Gln chr19 15151004 15151007 VAR_012898 - Q9UM47:p.Val1183Met chr19 15150860 15150863 VAR_012899 - Q9UM47:p.Arg1231Cys chr19 15150687 15150690 VAR_012900 - Q9UM47:p.Cys1261Arg chr6 32298365 32298368 VAR_012866 - Q99466:p.Lys117Gln chr6 32296919 32296922 VAR_033828 - Q99466:p.Pro204Leu chr6 32296913 32296916 VAR_033829 - Q99466:p.Pro206Leu chr6 32296799 32296802 VAR_033830 - Q99466:p.Ser244Leu chr6 32296616 32296619 VAR_012867 - Q99466:p.Asp272Gly chr6 32296367 32296370 VAR_012868 - Q99466:p.Glu317Gln chr6 32296358 32296361 VAR_012869 - Q99466:p.Thr320Ala chr6 32293771 32293774 VAR_033831 - Q99466:p.Gly534Ser chr6 32288355 32288358 VAR_012870 - Q99466:p.Lys851Arg chr9 137603332 137604646 VAR_037985 + Q86UR1:p.274_476del chr9 137603498 137603501 VAR_037986 + Q86UR1:p.Pro286Leu chr11 82320676 82320679 VAR_037326 + Q8IXT1:p.Ile217Thr chr11 82321405 82321408 VAR_037327 + Q8IXT1:p.Arg460Ser chr11 82322296 82322299 VAR_037328 + Q8IXT1:p.Asp757Asn chr11 82322410 82322413 VAR_037329 + Q8IXT1:p.Pro795Arg chr11 82322551 82322554 VAR_037330 + Q8IXT1:p.Val842Ile chrX 92733776 92733779 VAR_024545 - Q99457:p.Pro224Ala chr4 47878853 47878856 VAR_026843 + Q6NVV3:p.Ile324Val chr14 74022884 74022887 VAR_043303 - P61916:p.Val30Met chr14 74022857 74022860 VAR_015848 - P61916:p.Val39Met chr14 74022833 74022836 VAR_043304 - P61916:p.Cys47Phe chr14 74021032 74021035 VAR_015849 - P61916:p.Ser67Pro chr14 74020975 74020978 VAR_011899 - P61916:p.Pro86Leu chr14 74020954 74020957 VAR_043305 - P61916:p.Cys93Phe chr14 74020936 74020939 VAR_043306 - P61916:p.Cys99Arg chr14 74020873 74020876 VAR_043307 - P61916:p.Pro120Ser chr7 44353070 44353073 VAR_023369 - Q9UHC9:p.Val55Leu chr7 44328937 44328940 VAR_023370 - Q9UHC9:p.Ile1233Asn chr19 41034280 41034283 VAR_013029 - O60500:p.Trp64Ser chr19 41034049 41034052 VAR_013030 - O60500:p.Glu117Lys chr19 41033715 41033718 VAR_013031 - O60500:p.Ile171Asn chr19 41033712 41033715 VAR_013032 - O60500:p.172del chr19 41033709 41033712 VAR_013033 - O60500:p.Ile173Asn chr19 41032382 41032391 VAR_013034 - O60500:p.Thr205_Arg207delinsIle chr19 41032007 41032010 VAR_013035 - O60500:p.Gly270Cys chr19 41031498 41031501 VAR_013036 - O60500:p.Ser350Pro chr19 41031450 41031453 VAR_013037 - O60500:p.Ser366Arg chr19 41031447 41031450 VAR_013038 - O60500:p.Arg367Cys chr19 41031444 41031447 VAR_013039 - O60500:p.Pro368Ser chr19 41031420 41031423 VAR_013040 - O60500:p.Leu376Val chr19 41031085 41031088 VAR_013041 - O60500:p.Arg408Gln chr19 41030881 41030884 VAR_013042 - O60500:p.Glu447Lys chr19 41030827 41030830 VAR_013043 - O60500:p.Cys465Tyr chr19 41028792 41028795 VAR_013044 - O60500:p.Cys528Phe chr19 41028209 41028212 VAR_013045 - O60500:p.Leu610Gln chr19 41028170 41028173 VAR_013046 - O60500:p.Cys623Phe chr19 41026884 41026887 VAR_013047 - O60500:p.Ser724Cys chr19 41026318 41026321 VAR_013048 - O60500:p.Arg743Cys chr19 41025220 41025223 VAR_013050 - O60500:p.Arg802Pro chr19 41025220 41025223 VAR_013049 - O60500:p.Arg802Trp chr19 41025208 41025211 VAR_013051 - O60500:p.Ala806Asp chr19 41025169 41025172 VAR_013052 - O60500:p.Asp819Val chr19 41025133 41025136 VAR_013053 - O60500:p.Arg831Cys chr19 41014439 41014442 VAR_013054 - O60500:p.Asn1077Ser chr19 41013855 41013858 VAR_013055 - O60500:p.Arg1140Cys chr2 110276647 110276649 VAR_012160 - O15259:p.Gly342Arg chr2 110277999 110278000 VAR_012160 - O15259:p.Gly342Arg chr3 133914705 133914708 VAR_022815 - Q7Z494:p.Ser360Thr chr3 133909759 133909762 VAR_022816 - Q7Z494:p.Asn386Ser chr3 133909726 133909729 VAR_022817 - Q7Z494:p.Arg397His chr3 133886242 133886245 VAR_022818 - Q7Z494:p.Leu1141Pro chr3 133884973 133884976 VAR_022819 - Q7Z494:p.Ala1221Val chr3 133884300 133884303 VAR_022820 - Q7Z494:p.Ser1252Arg chr3 133883502 133883505 VAR_022821 - Q7Z494:p.Ser1314Thr chr1 5980606 5980609 VAR_022526 - O75161:p.Asp3Tyr chr1 5980528 5980531 VAR_022527 - O75161:p.Thr29Met chr1 5972601 5972604 VAR_022528 - O75161:p.Phe91Leu chr1 5941522 5941525 VAR_022529 - O75161:p.Arg342Cys chr1 5922008 5922011 VAR_022530 - O75161:p.Arg469Trp chr1 5900088 5900091 VAR_022531 - O75161:p.Ala544Gly chr1 5899718 5899721 VAR_022532 - O75161:p.Glu618Lys chr1 5899691 5899694 VAR_022533 - O75161:p.Thr627Met chr1 5899123 5899126 VAR_022534 - O75161:p.Ala654Gly chr1 5885292 5885295 VAR_022535 - O75161:p.Arg735Trp chr1 5885277 5885280 VAR_022536 - O75161:p.Arg740His chr1 5885235 5885238 VAR_015214 - O75161:p.Gly754Arg chr1 5885202 5885205 VAR_022537 - O75161:p.Val765Ile chr1 5885199 5885202 VAR_022538 - O75161:p.Gln766Arg chr1 5881768 5881771 VAR_022539 - O75161:p.Pro776Arg chr1 5881750 5881753 VAR_022540 - O75161:p.His782Gln chr1 5874506 5874509 VAR_015215 - O75161:p.Arg848Trp chr1 5871418 5871421 VAR_037622 - O75161:p.Leu939Gln chr1 5869420 5869426 VAR_022541 - O75161:p.940_941del chr1 5869405 5869408 VAR_022542 - O75161:p.Thr946Ala chr1 5869366 5869369 VAR_037623 - O75161:p.Arg959Gln chr1 5869360 5869363 VAR_022543 - O75161:p.Arg961His chr1 5869270 5869273 VAR_015186 - O75161:p.Phe991Ser chr1 5867598 5867601 VAR_022544 - O75161:p.Ala1098Thr chr1 5860766 5860769 VAR_022545 - O75161:p.Arg1192Trp chr1 5859568 5859571 VAR_022546 - O75161:p.Thr1225Met chr1 5858807 5858810 VAR_022547 - O75161:p.Arg1284Cys chr1 5858798 5858801 VAR_022548 - O75161:p.Gln1287Glu chr16 14947015 14947018 VAR_034141 + Q9UND3:p.Arg93Cys chr4 107217150 107217153 VAR_033314 + Q6UXI9:p.Gln159His chr4 107246019 107246022 VAR_033316 + Q6UXI9:p.Gly473Ser chr4 107246028 107246031 VAR_033317 + Q6UXI9:p.Met476Thr chr9 104594767 104594770 VAR_020442 + Q9UFN0:p.Arg100Gln chr7 34591351 34591354 VAR_023757 + Q6W5P4:p.Asn107Ile chr7 34591396 34591399 VAR_025103 + Q6W5P4:p.Arg122Gln chr7 34624663 34624666 VAR_025104 + Q6W5P4:p.Ser143Gly chr7 34640362 34640365 VAR_025105 + Q6W5P4:p.Cys197Phe chr7 34640407 34640410 VAR_025106 + Q6W5P4:p.Thr212Ile chr7 34647275 34647278 VAR_023758 + Q6W5P4:p.Ser241Arg chr7 34661432 34661435 VAR_025107 + Q6W5P4:p.Ile315Thr chr7 34662420 34662423 VAR_023759 + Q6W5P4:p.Gln344Arg chr5 176745625 176745628 VAR_024765 + Q06495:p.Ala48Phe chr5 176746079 176746082 VAR_024766 + Q06495:p.Val147Met chr4 25340615 25340618 VAR_034156 + O95436:p.Val45Ala chr4 25342157 25342160 VAR_030677 + O95436:p.Gly106Arg chr9 137402886 137402889 VAR_025706 + Q8N130:p.Arg67His chr9 137403179 137403182 VAR_025707 + Q8N130:p.Ser138Phe chr9 137403381 137403384 VAR_025708 + Q8N130:p.Gly180Ala chr9 137403510 137403513 VAR_025709 + Q8N130:p.Ser192Leu chr9 137403522 137403525 VAR_025710 + Q8N130:p.Gly196Arg chr9 137403645 137403648 VAR_025711 + Q8N130:p.Asp237Asn chr9 137404480 137404483 VAR_025712 + Q8N130:p.Gly337Ser chr9 137404528 137404531 VAR_025713 + Q8N130:p.Arg353Leu chr9 137404921 137404924 VAR_025714 + Q8N130:p.Ala413Glu chr9 137406306 137406309 VAR_025715 + Q8N130:p.Arg468Trp chr6 25970442 25970445 VAR_024533 - O00476:p.Ala81Thr chr6 25958821 25958824 VAR_034700 - O00476:p.Gly182Arg chr4 164604092 164604095 VAR_014681 - P25929:p.Lys374Thr chr7 24098117 24098120 VAR_014598 + P01303:p.Leu7Pro chr7 24098162 24098165 VAR_014599 + P01303:p.Leu22Met chr16 68306367 68306370 VAR_016170 - P15559:p.Arg139Trp chr16 68302643 68302646 VAR_008384 - P15559:p.Pro187Ser chr6 2955295 2955298 VAR_021399 + P16083:p.Lys16Arg chr6 2955334 2955337 VAR_021400 + P16083:p.Glu29Gly chr6 2955421 2955422 VAR_021402 + P16083:p.Gly58Asp chr6 2957776 2957778 VAR_021402 + P16083:p.Gly58Asp chr6 2964741 2964744 VAR_021403 + P16083:p.Val184Ala chrX 30086336 30086339 VAR_004738 - P51843:p.Arg267Pro chrX 30086330 30086333 VAR_004739 - P51843:p.269del chrX 30086303 30086306 VAR_031079 - P51843:p.Leu278Pro chrX 30086276 30086279 VAR_004740 - P51843:p.Val287Gly chrX 30086264 30086267 VAR_031080 - P51843:p.Trp291Cys chrX 30086252 30086255 VAR_018303 - P51843:p.Leu295Pro chrX 30086246 30086249 VAR_031081 - P51843:p.Leu297Pro chrX 30086237 30086240 VAR_018304 - P51843:p.Ala300Pro chrX 30086237 30086240 VAR_004741 - P51843:p.Ala300Val chrX 30086006 30086009 VAR_004742 - P51843:p.Glu377Lys chrX 30085997 30086000 VAR_018300 - P51843:p.Tyr380Asp chrX 30085994 30085997 VAR_018301 - P51843:p.Leu381His chrX 30085991 30085994 VAR_004743 - P51843:p.Lys382Asn chrX 30085982 30085985 VAR_004744 - P51843:p.Val385Gly chrX 30082490 30082493 VAR_004745 - P51843:p.Arg425Gly chrX 30082490 30082493 VAR_018305 - P51843:p.Arg425Thr chrX 30082448 30082451 VAR_018302 - P51843:p.Ile439Ser chrX 30082445 30082448 VAR_004746 - P51843:p.Asn440Ile chrX 30082367 30082370 VAR_018306 - P51843:p.Leu466Arg chr1 26924402 26924405 VAR_026015 - Q15466:p.Arg57Trp chr1 26922684 26922687 VAR_026016 - Q15466:p.Gly189Glu chr1 26922666 26922669 VAR_026017 - Q15466:p.Ala195Ser chr1 26922612 26922615 VAR_026018 - Q15466:p.Arg213Cys chr1 26922603 26922606 VAR_026019 - Q15466:p.Arg216His chr3 121008838 121008841 VAR_033237 + O75469:p.Glu18Lys chr3 121008865 121008868 VAR_012228 + O75469:p.Pro27Ser chr3 121008892 121008895 VAR_012229 + O75469:p.Gly36Arg chr3 121011691 121011694 VAR_018340 + O75469:p.Arg98Cys chr3 121013107 121013110 VAR_012230 + O75469:p.Arg122Gln chr3 121013185 121013188 VAR_018341 + O75469:p.Arg148Gln chr3 121017315 121017318 VAR_033238 + O75469:p.Ala370Thr chr3 121017348 121017351 VAR_018342 + O75469:p.Arg381Trp chr3 121018650 121018653 VAR_018343 + O75469:p.Ile403Val chr1 158016040 158016043 VAR_018344 - Q14994:p.Val133Gly chr2 219073267 219073270 VAR_004629 + P49279:p.Gln30Arg chr2 219080253 219080256 VAR_004630 + P49279:p.Ala318Val chr2 219085236 219085239 VAR_004631 + P49279:p.Asp543Asn chr12 49688564 49688567 VAR_036434 - P49281:p.Ala48Thr chr12 49684924 49684927 VAR_033011 - P49281:p.114del chr12 49679262 49679265 VAR_033012 - P49281:p.Gly212Val chr12 49672859 49672862 VAR_033013 - P49281:p.Glu399Asp chr12 49672338 49672341 VAR_033014 - P49281:p.Arg416Cys chr12 49672281 49672284 VAR_008882 - P49281:p.Leu435Ile chr10 115403838 115403841 VAR_034073 - Q86VF7:p.Ala132Ser chr10 115402695 115402698 VAR_034074 - Q86VF7:p.Gln186Glu chr10 115401602 115401605 VAR_027556 - Q86VF7:p.Val208Ala chr10 115400222 115400225 VAR_027557 - Q86VF7:p.Tyr249Cys chr10 115399827 115399830 VAR_034075 - Q86VF7:p.Ala282Thr chr10 115395651 115395654 VAR_027558 - Q86VF7:p.Ala344Thr chr10 115395603 115395606 VAR_027559 - Q86VF7:p.Gln360Arg chr10 115383917 115383920 VAR_034076 - Q86VF7:p.Ser490Leu chr10 115382907 115382910 VAR_034077 - Q86VF7:p.Asn519Ile chr10 115379354 115379357 VAR_034078 - Q86VF7:p.Ala674Val chr10 115371734 115371737 VAR_034079 - Q86VF7:p.Arg884Cys chr10 115362144 115362147 VAR_034080 - Q86VF7:p.Ala1112Val chr10 115341993 115341996 VAR_027560 - Q86VF7:p.Leu1531Pro chr7 107402706 107402709 VAR_035528 - Q92823:p.His1093Pro chr7 107401434 107401437 VAR_035529 - Q92823:p.Gly1116Val chr1 52018089 52018092 VAR_021221 - O43847:p.Glu153Glu chr8 32572898 32572901 VAR_009307 + Q02297:p.Arg38Gln chr8 32740925 32740928 VAR_009308 + Q02297:p.Met463Lys chr21 15261721 15261724 VAR_023706 - P48552:p.His221Arg chr21 15261439 15261442 VAR_034142 - P48552:p.Tyr315Phe chr21 15261061 15261064 VAR_023707 - P48552:p.Ile441Val chr21 15261040 15261043 VAR_023708 - P48552:p.Arg448Gly chr21 15259975 15259978 VAR_023709 - P48552:p.Ser803Leu chr21 15259147 15259150 VAR_023710 - P48552:p.Val1079Phe chr19 3893109 3893112 VAR_024549 + Q9NPI5:p.Glu178Lys chr14 23621747 23621750 VAR_009268 - P54845:p.Ser50Thr chr6 24242654 24242657 VAR_029816 + Q8IZ57:p.Ile41Val chr19 5778875 5778878 VAR_009498 + Q99748:p.Ala96Ser chr5 176569845 176569848 VAR_015775 + Q96L73:p.Val614Leu chr5 176570076 176570079 VAR_015776 + Q96L73:p.Ala691Thr chr5 176570181 176570184 VAR_015777 + Q96L73:p.Ser726Pro chr5 176571111 176571114 VAR_015778 + Q96L73:p.Ala1036Pro chr5 176571276 176571279 VAR_015779 + Q96L73:p.Leu1091Ile chr5 176616637 176616640 VAR_015780 + Q96L73:p.His1616Leu chr5 176616700 176616703 VAR_015781 + Q96L73:p.Leu1637Pro chr5 176619648 176619651 VAR_015782 + Q96L73:p.Cys1674Trp chr5 176619687 176619690 VAR_015783 + Q96L73:p.Ile1687Asn chr5 176629278 176629281 VAR_015784 + Q96L73:p.Gly1792Val chr5 176640321 176640324 VAR_015785 + Q96L73:p.Cys1925Arg chr5 176640411 176640414 VAR_015786 + Q96L73:p.Gly1955Asp chr5 176642128 176642131 VAR_015787 + Q96L73:p.Arg1984Gln chr5 176642167 176642170 VAR_015788 + Q96L73:p.Tyr1997Cys chr5 176643396 176643399 VAR_015789 + Q96L73:p.Arg2005Gln chr5 176643432 176643435 VAR_015790 + Q96L73:p.Arg2017Gln chr5 176643432 176643435 VAR_015791 + Q96L73:p.Arg2017Trp chr5 176651728 176651731 VAR_015792 + Q96L73:p.His2143Gln chr5 176653521 176653524 VAR_015793 + Q96L73:p.Cys2183Ser chr5 176653722 176653725 VAR_015794 + Q96L73:p.Met2250Ile chr5 176653755 176653758 VAR_015795 + Q96L73:p.Met2261Thr chr8 38306484 38306487 VAR_028950 - Q9BZ95:p.Arg383Pro chrX 151697926 151697929 VAR_010207 + Q15738:p.Ala105Val chrX 151704999 151705002 VAR_010208 + Q15738:p.Gly205Ser chr16 27176278 27176281 VAR_029822 - Q8WV22:p.Thr38Arg chr8 126183832 126183835 VAR_036327 + Q96MF7:p.Leu27Phe chr20 1374390 1374393 VAR_017481 - Q9UNZ2:p.Asp290Asn chr17 42137357 42137360 VAR_029580 + P46459:p.Thr476Met chr7 71865097 71865100 VAR_029476 - Q63ZY6:p.Trp47Ser chr7 71864614 71864617 VAR_029477 - Q63ZY6:p.Ala90Val chr7 71863705 71863708 VAR_029478 - Q63ZY6:p.Cys272Arg chr7 71863612 71863615 VAR_029479 - Q63ZY6:p.Lys303Arg chr5 6657326 6657329 VAR_032604 - Q08J23:p.Val627Ile chr3 95327883 95327886 VAR_032605 + Q9H649:p.Ala295Val chr3 52538238 52538241 VAR_034143 - Q9H857:p.Ser91Arg chr1 167253033 167253036 VAR_027867 + Q5T7V8:p.Glu320Lys chr13 102516306 102516309 VAR_024837 - Q12908:p.Val98Ile chr13 102508633 102508636 VAR_024838 - Q12908:p.Val159Ile chr13 102501639 102501642 VAR_004614 - Q12908:p.Leu243Pro chr13 102499772 102499775 VAR_004615 - Q12908:p.Thr262Met chr13 102499688 102499691 VAR_004616 - Q12908:p.Pro290Ser chr14 69314944 69314947 VAR_022113 - Q14973:p.Ser267Phe chr12 5473866 5473869 VAR_012084 + P20783:p.Gly76Glu chr16 2037786 2037789 VAR_016125 - P78549:p.Arg21Trp chr16 2037750 2037753 VAR_016126 - P78549:p.Arg33Lys chr16 2034652 2034655 VAR_016127 - P78549:p.Ile176Thr chr16 2033575 2033578 VAR_029318 - P78549:p.Ser234Leu chr16 2030232 2030235 VAR_016128 - P78549:p.Asp239Tyr chr20 60856676 60856679 VAR_020071 + P30989:p.Val304Ile chr1 153647243 153647246 VAR_041461 + P04629:p.Gln80Arg chr1 153647258 153647261 VAR_009623 + P04629:p.Arg85Ser chr1 153647282 153647285 VAR_009624 + P04629:p.Leu93Pro chr1 153647623 153647626 VAR_041462 + P04629:p.Ala107Val chr1 153651431 153651434 VAR_009625 + P04629:p.Leu213Pro chr1 153651503 153651506 VAR_041463 + P04629:p.Thr237Met chr1 153651506 153651509 VAR_041464 + P04629:p.Val238Gly chr1 153654547 153654550 VAR_041465 + P04629:p.Arg260Gly chr1 153657848 153657851 VAR_041466 + P04629:p.Arg444Gln chr1 153657872 153657873 VAR_041467 + P04629:p.Arg452Cys chr1 153658384 153658386 VAR_041467 + P04629:p.Arg452Cys chr1 153659006 153659009 VAR_009626 + P04629:p.Gly522Arg chr1 153659327 153659330 VAR_041468 + P04629:p.Met566Thr chr1 153659360 153659363 VAR_004103 + P04629:p.Gly577Arg chr1 153659390 153659393 VAR_009627 + P04629:p.Met587Val chr1 153661990 153661993 VAR_009628 + P04629:p.His604Tyr chr1 153662017 153662020 VAR_009629 + P04629:p.Gly613Val chr1 153662125 153662128 VAR_009630 + P04629:p.Arg649Trp chr1 153662140 153662143 VAR_009631 + P04629:p.Arg654Cys chr1 153662200 153662203 VAR_009632 + P04629:p.Asp674Tyr chr1 153662899 153662902 VAR_009633 + P04629:p.Pro695Leu chr1 153662956 153662959 VAR_009634 + P04629:p.Gly714Ser chr1 153664453 153664456 VAR_009635 + P04629:p.Arg780Pro chr1 153664453 153664456 VAR_009636 + P04629:p.Arg780Gln chr1 153664483 153664486 VAR_041469 + P04629:p.Val790Ile chr9 84552364 84552367 VAR_041470 + Q16620:p.Leu138Phe chr9 84572193 84572196 VAR_016320 + Q16620:p.Gly309Arg chr9 84572280 84572283 VAR_011973 + Q16620:p.Asn338Tyr chr12 104963775 104963778 VAR_040963 - O60285:p.Gly419Asp chr12 104963403 104963406 VAR_017246 - O60285:p.Pro543Arg chr19 54095901 54095907 VAR_012151 + Q02818:p.Leu13_Pro14delinsSer chrX 51072215 51072218 VAR_022738 - Q96G61:p.Ser39Asn chr5 102922887 102922890 VAR_034157 - Q9BQG2:p.Lys129Glu chr5 102922569 102922572 VAR_034158 - Q9BQG2:p.Ile235Val chr10 74551955 74551958 VAR_034160 + Q86X67:p.Gly81Asp chr11 63750805 63750808 VAR_029616 + Q9BRQ3:p.Gly36Cys chr7 44217359 44217362 VAR_031709 - Q8IVD9:p.Arg235Cys chr10 12255738 12255741 VAR_034159 - Q9UKK9:p.Ile123Thr chr4 124171911 124171914 VAR_021909 - P53370:p.Arg209Gln chr1 160045195 160045198 VAR_027490 + Q9BZD4:p.Ser229Leu chr1 160045225 160045228 VAR_027491 + Q9BZD4:p.Ser239Arg chr13 44461463 44461466 VAR_026978 - Q9UHK0:p.Ser36Arg chr11 71407532 71407535 VAR_031679 - Q14980:p.Lys242Arg chr11 71403814 71403817 VAR_031680 - Q14980:p.Ala794Gly chr11 71402737 71402740 VAR_031681 - Q14980:p.Glu1153Asp chr11 71394945 71394948 VAR_031682 - Q14980:p.Val1825Met chr11 71394912 71394915 VAR_031683 - Q14980:p.Tyr1836His chr17 5249277 5249280 VAR_029340 - Q99567:p.Asn289Ser chr15 32435925 32435928 VAR_037240 + Q86Y26:p.Thr781Met chr15 32435937 32435940 VAR_037241 + Q86Y26:p.Val785Glu chr15 32436501 32436504 VAR_037242 + Q86Y26:p.Thr973Asn chr15 32436537 32436540 VAR_037243 + Q86Y26:p.Pro985Arg chr15 32436921 32436924 VAR_037244 + Q86Y26:p.Arg1113His chr1 220791040 220791043 VAR_015890 - O15381:p.Cys359Gly chrX 41089044 41089068 VAR_014084 + Q9GZU5:p.29_36del chrX 41089050 41089053 VAR_013867 + Q9GZU5:p.Cys31Ser chrX 41089260 41089263 VAR_014085 + Q9GZU5:p.101del chrX 41089299 41089314 VAR_014086 + Q9GZU5:p.114_118del chrX 41089386 41089389 VAR_013868 + Q9GZU5:p.Ala143Pro chrX 41089410 41089413 VAR_013869 + Q9GZU5:p.Pro151Leu chrX 41089422 41089425 VAR_014087 + Q9GZU5:p.Leu155Leu chrX 41089482 41089485 VAR_013870 + Q9GZU5:p.Pro175Arg chrX 41089509 41089512 VAR_013871 + Q9GZU5:p.Leu184Pro chrX 41089518 41089521 VAR_013872 + Q9GZU5:p.Ala187Lys chrX 41089578 41089581 VAR_014088 + Q9GZU5:p.Arg207Arg chrX 41089584 41089587 VAR_014089 + Q9GZU5:p.Arg209Arg chrX 41089596 41089599 VAR_013873 + Q9GZU5:p.Leu213Gln chrX 41089605 41089608 VAR_013874 + Q9GZU5:p.Asn216Ser chrX 41089653 41089656 VAR_013875 + Q9GZU5:p.Leu232Pro chrX 41089686 41089698 VAR_014090 + Q9GZU5:p.243_246del chrX 41089749 41089752 VAR_013876 + Q9GZU5:p.Asn264Lys chrX 41089812 41089815 VAR_013877 + Q9GZU5:p.Leu285Pro chrX 41089851 41089854 VAR_013878 + Q9GZU5:p.Phe298Ser chrX 41089878 41089881 VAR_013879 + Q9GZU5:p.Leu307Pro chrX 41089893 41089896 VAR_013880 + Q9GZU5:p.Asn312Ser chrX 41089998 41090001 VAR_013881 + Q9GZU5:p.Leu347Pro chrX 41090067 41090070 VAR_013882 + Q9GZU5:p.Gly370Val chr11 6848179 6848182 VAR_034277 + Q9H208:p.His207Arg chr11 6848278 6848281 VAR_034278 + Q9H208:p.Ile240Thr chr11 6848332 6848335 VAR_034279 + Q9H208:p.Lys258Thr chr11 6855114 6855117 VAR_034280 + Q9H209:p.Arg221His chr11 6855189 6855192 VAR_034281 + Q9H209:p.Leu246Phe chr11 6855237 6855240 VAR_024124 + Q9H209:p.Arg262Gln chr11 6823609 6823612 VAR_034282 + Q9H207:p.Lys41Met chr12 46882505 46882508 VAR_024125 - Q8NGE0:p.Tyr279His chr6 29515939 29515942 VAR_037822 + Q96KK4:p.Pro57Ser chr6 29515948 29515951 VAR_037823 + Q96KK4:p.Phe60Leu chr6 29516035 29516038 VAR_037824 + Q96KK4:p.Arg89Ser chr6 29516068 29516071 VAR_037825 + Q96KK4:p.Met100Val chr6 29516131 29516134 VAR_037826 + Q96KK4:p.Arg121Cys chr6 29516182 29516185 VAR_037827 + Q96KK4:p.Arg138Trp chr6 29516248 29516251 VAR_037828 + Q96KK4:p.Pro160Ser chr6 29516251 29516254 VAR_037829 + Q96KK4:p.Phe161Leu chr6 29516290 29516293 VAR_037830 + Q96KK4:p.Pro174Gln chr6 29516533 29516536 VAR_037832 + Q96KK4:p.Leu255Ile chr6 29516698 29516701 VAR_037833 + Q96KK4:p.Met310Arg chr11 123392073 123392076 VAR_034283 + Q8NGN3:p.Val195Glu chr11 123392193 123392196 VAR_034284 + Q8NGN3:p.Arg235Gly chr11 123414903 123414906 VAR_024126 - Q8NGN6:p.Thr5Ser chr11 123414510 123414513 VAR_034285 - Q8NGN6:p.Thr136Ser chr11 123399334 123399337 VAR_034286 + Q8NGN4:p.Ser136Thr chr11 123399442 123399445 VAR_034287 + Q8NGN4:p.Gln172Arg chr19 15779799 15779802 VAR_024127 - Q9Y4A9:p.Gly16Arg chr19 15700363 15700366 VAR_022049 + O60403:p.Ser171Phe chr19 15713220 15713223 VAR_024128 + O60404:p.Arg7Ser chr19 15713241 15713244 VAR_034288 + O60404:p.Leu14Ile chr19 15713361 15713364 VAR_034289 + O60404:p.Arg54His chr19 15713871 15713874 VAR_020381 + O60404:p.Val224Met chr19 15714078 15714081 VAR_020382 + O60404:p.Ser293Asn chr19 15921114 15921117 VAR_034290 + Q8NGA5:p.Asn100Lys chr19 15921246 15921249 VAR_034291 + Q8NGA5:p.His144Arg chr1 156222954 156222957 VAR_034293 + P30954:p.Met112Ile chr12 54317203 54317206 VAR_034294 + Q8NGE3:p.Pro88Leu chr12 54317539 54317542 VAR_034295 + Q8NGE3:p.Val200Met chr11 57752887 57752890 VAR_024129 - Q8NGQ4:p.Glu12Asp chr11 59237525 59237528 VAR_034296 - Q8NGI7:p.Gln123Arg chr1 155390180 155390183 VAR_034297 + Q8NGY1:p.Asn294Thr chr6 29502902 29502905 VAR_010955 - Q9GZK7:p.Ala165Thr chr14 19781690 19781693 VAR_034298 + Q8NGC9:p.Thr301Ser chr14 19761726 19761729 VAR_034299 + Q8NGC7:p.Ser7Tyr chr14 19761801 19761804 VAR_024130 + Q8NGC7:p.Leu32Val chr14 19762026 19762029 VAR_034300 + Q8NGC7:p.Ile107Thr chr14 19762143 19762146 VAR_034301 + Q8NGC7:p.Arg146His chr14 19762290 19762293 VAR_034302 + Q8NGC7:p.Leu195Phe chr14 19762413 19762416 VAR_034303 + Q8NGC7:p.Tyr236His chr14 19762482 19762485 VAR_034304 + Q8NGC7:p.Cys259Arg chr1 244330888 244330891 VAR_034305 - Q8NGX0:p.Phe117Leu chr6 29450752 29450755 VAR_020383 - Q9UGF7:p.Thr97Ile chr6 29450293 29450296 VAR_036209 - Q9UGF7:p.Phe250Leu chr9 104441153 104441156 VAR_034306 - Q8NGS8:p.Phe32Leu chr9 104440682 104440685 VAR_024132 - Q8NGS8:p.Cys189Tyr chr9 104440475 104440478 VAR_024133 - Q8NGS8:p.Met258Thr chr9 104440403 104440406 VAR_024134 - Q8NGS8:p.Ile282Val chr9 104440379 104440382 VAR_024135 - Q8NGS8:p.Met290Thr chr9 104411057 104411060 VAR_034307 + Q8NGS7:p.Ala19Asp chr9 104459968 104459971 VAR_024136 - Q8NGT0:p.Glu24Asp chr9 104459767 104459770 VAR_034308 - Q8NGT0:p.Thr91Ser chr9 104346149 104346152 VAR_034309 + Q8NGS4:p.Phe18Ser chr9 104346377 104346380 VAR_034310 + Q8NGS4:p.Phe94Ser chr9 104346398 104346401 VAR_024137 + Q8NGS4:p.Met101Val chr9 104346857 104346860 VAR_034311 + Q8NGS4:p.Thr254Met chrX 130404377 130404380 VAR_034312 + Q8NG92:p.Tyr266Ser chr6 29382463 29382466 VAR_034234 + Q9UGF5:p.Met7Thr chr6 29383276 29383279 VAR_034235 + Q9UGF5:p.Val278Met chr7 143230514 143230517 VAR_034171 + Q8NGT7:p.Ala223Thr chr11 54867813 54867816 VAR_034187 + Q8NH70:p.Leu188Ile chr11 54868158 54868161 VAR_034188 + Q8NH70:p.Lys303Met chr11 4933342 4933345 VAR_024138 - Q8NGJ7:p.Gly59Glu chr11 4932655 4932658 VAR_024139 - Q8NGJ7:p.Met288Thr chr11 4924105 4924108 VAR_034313 - Q8NGJ6:p.Arg267Gly chr11 4924042 4924045 VAR_034314 - Q8NGJ6:p.Thr288Met chr11 4885196 4885199 VAR_024140 + Q8NH64:p.Glu8Lys chr11 4885415 4885418 VAR_034315 + Q8NH64:p.Met81Thr chr11 4885760 4885763 VAR_034316 + Q8NH64:p.Val196Ala chr11 5279311 5279314 VAR_030348 - Q9Y5P0:p.Met147Thr chr11 4630362 4630365 VAR_034317 + Q8TCB6:p.Ser10Asn chr11 4901770 4901773 VAR_034318 - Q8NGK1:p.Tyr125Ser chr11 4893181 4893184 VAR_034319 - Q8NGK0:p.Glu96Gln chr11 5418828 5418831 VAR_034320 - Q9H343:p.Val164Leu chr11 5418564 5418567 VAR_024142 - Q9H343:p.Ala252Ser chr11 5431657 5431660 VAR_034321 + Q9H344:p.Arg122Cys chr11 5431693 5431696 VAR_034322 + Q9H344:p.Thr134Ala chr11 5431744 5431747 VAR_034323 + Q9H344:p.Arg151Pro chr11 5432080 5432083 VAR_024143 + Q9H344:p.Arg263His chr11 4977373 4977376 VAR_034324 + Q8NGJ5:p.Thr196Ile chr11 4977406 4977409 VAR_034325 + Q8NGJ5:p.Ala207Val chr11 5400441 5400444 VAR_034326 + Q8NH59:p.Thr146Ile chr11 5400462 5400465 VAR_034327 + Q8NH59:p.Cys153Arg chr11 5400537 5400540 VAR_034328 + Q8NH59:p.Arg178His chr11 5400636 5400639 VAR_024144 + Q8NH59:p.Val211Met chr11 4826843 4826846 VAR_034329 - Q8NGJ8:p.Ile57Asn chr11 4826834 4826837 VAR_034330 - Q8NGJ8:p.Gln60Glu chr11 4826480 4826483 VAR_024145 - Q8NGJ8:p.Leu178Arg chr11 4345684 4345687 VAR_037834 - Q8NGK2:p.Thr139Ile chr11 5466971 5466974 VAR_034331 + Q9H346:p.Arg154Cys chr11 5467148 5467151 VAR_034332 + Q9H346:p.Asp213Glu chr11 5467172 5467175 VAR_034333 + Q9H346:p.Tyr221Phe chr11 5467262 5467265 VAR_024146 + Q9H346:p.Ile251Thr chr11 5467421 5467424 VAR_034334 + Q9H346:p.Arg304Trp chr11 5862242 5862245 VAR_034335 + Q8NGH9:p.Phe49Leu chr11 5862623 5862626 VAR_024147 + Q8NGH9:p.Val176Ile chr11 5862647 5862650 VAR_024148 + Q8NGH9:p.Arg184Met chr11 5862779 5862782 VAR_034336 + Q8NGH9:p.Arg228His chr11 5862866 5862869 VAR_034337 + Q8NGH9:p.Phe257Leu chr11 5879206 5879209 VAR_034339 + Q8NH55:p.Asp209Gly chr11 4571964 4571967 VAR_034342 + Q8NGK6:p.Thr41Ile chr11 5025006 5025009 VAR_034346 + Q8NH60:p.Val226Ile chr11 4427514 4427517 VAR_034347 + Q8NGK3:p.Arg124Cys chr11 4428048 4428051 VAR_034348 + Q8NGK3:p.Arg302Cys chr11 4523020 4523023 VAR_034349 + Q8NGK5:p.Ser9Leu chr11 4523908 4523911 VAR_034350 + Q8NGK5:p.Ser305Arg chr11 5766121 5766124 VAR_024149 - Q8NH53:p.Arg167Cys chr11 5765881 5765884 VAR_034351 - Q8NH53:p.Phe247Ile chr11 5798885 5798888 VAR_024150 + Q8NGI0:p.Ser249Ala chr11 5798930 5798933 VAR_024151 + Q8NGI0:p.His264Arg chr11 5925302 5925305 VAR_024152 + Q8NH54:p.Met51Thr chr11 6086412 6086415 VAR_024153 + Q8NH76:p.Pro277Ser chr3 99289303 99289306 VAR_034214 + Q9NZP5:p.Met200Ile chr11 56512973 56512976 VAR_034215 + Q8NH90:p.Gly4Val chr11 56513237 56513240 VAR_034216 + Q8NH90:p.Met92Ile chr11 58889371 58889374 VAR_024098 + Q8NGI8:p.Leu289Phe chr11 55554833 55554836 VAR_034217 + Q8N127:p.Arg122Leu chr11 55555397 55555400 VAR_034218 + Q8N127:p.Tyr310Cys chr11 119604866 119604869 VAR_032993 + Q86UD1:p.His210Arg chr11 119604887 119604890 VAR_032994 + Q86UD1:p.Arg217His chr10 126090568 126090571 VAR_000565 - P04181:p.Asn54Lys chr10 126090565 126090568 VAR_000566 - P04181:p.Tyr55His chr10 126087456 126087459 VAR_000567 - P04181:p.Asn89Lys chr10 126087453 126087456 VAR_015648 - P04181:p.Gln90Glu chr10 126087444 126087447 VAR_000568 - P04181:p.Cys93Phe chr10 126087158 126087161 VAR_000569 - P04181:p.Arg154Leu chr10 126084102 126084105 VAR_000570 - P04181:p.Arg180Thr chr10 126084090 126084093 VAR_000571 - P04181:p.184del chr10 126082449 126082452 VAR_000572 - P04181:p.Ala226Val chr10 126082404 126082407 VAR_000573 - P04181:p.Pro241Leu chr10 126082392 126082395 VAR_000574 - P04181:p.Tyr245Cys chr10 126082377 126082380 VAR_000575 - P04181:p.Arg250Pro chr10 126081584 126081587 VAR_000576 - P04181:p.Thr267Ile chr10 126081575 126081578 VAR_000577 - P04181:p.Ala270Pro chr10 126081572 126081575 VAR_000578 - P04181:p.Arg271Lys chr10 126080341 126080344 VAR_000579 - P04181:p.His319Tyr chr10 126080302 126080305 VAR_000580 - P04181:p.Val332Met chr10 126079498 126079501 VAR_000581 - P04181:p.Gly353Asp chr10 126079432 126079435 VAR_000582 - P04181:p.Gly375Ala chr10 126076638 126076641 VAR_000583 - P04181:p.Cys394Arg chr10 126076614 126076617 VAR_000584 - P04181:p.Leu402Pro chr10 126076569 126076572 VAR_000585 - P04181:p.Pro417Leu chr10 126076509 126076512 VAR_000586 - P04181:p.Leu437Phe chr11 110733412 110733415 VAR_005521 - Q16633:p.Thr141Ala chr11 110730384 110730387 VAR_005522 - Q16633:p.Gln194Arg chr10 105649813 105649816 VAR_022364 - Q9H668:p.Thr151Ala chr10 105647304 105647307 VAR_022365 - Q9H668:p.Ser248Cys chr9 135664676 135664679 VAR_034354 + Q9NY56:p.Asn61Lys chr19 17198555 17198558 VAR_034356 + Q9H607:p.Arg42Leu chr19 17198880 17198883 VAR_034357 + Q9H607:p.Ala109Gly chrX 128421907 128421910 VAR_022698 + Q01968:p.Arg318Cys chrX 128421964 128421967 VAR_010169 + Q01968:p.Arg337Pro chrX 128422122 128422125 VAR_010170 + Q01968:p.Gly357Glu chrX 128422152 128422155 VAR_010171 + Q01968:p.367del chrX 128422167 128422170 VAR_010172 + Q01968:p.Val372Gly chrX 128422176 128422179 VAR_010173 + Q01968:p.His375Tyr chrX 128425299 128425302 VAR_010174 + Q01968:p.Gly421Glu chrX 128425308 128425311 VAR_010175 + Q01968:p.Asn424Asp chrX 128425389 128425392 VAR_010176 + Q01968:p.Asp451Gly chrX 128426795 128426798 VAR_010177 + Q01968:p.Phe463Ser chrX 128426840 128426846 VAR_023957 + Q01968:p.478_479del chrX 128426843 128426846 VAR_022699 + Q01968:p.Tyr479Cys chrX 128428800 128428803 VAR_010178 + Q01968:p.Cys498Tyr chrX 128428806 128428809 VAR_010179 + Q01968:p.Arg500Gly chrX 128428806 128428809 VAR_010180 + Q01968:p.Arg500Gln chrX 128428830 128428833 VAR_010181 + Q01968:p.Val508Asp chrX 128428845 128428848 VAR_010182 + Q01968:p.Tyr513Cys chrX 128428872 128428875 VAR_010183 + Q01968:p.Ser522Arg chrX 128428878 128428881 VAR_010184 + Q01968:p.His524Gln chrX 128428878 128428881 VAR_010185 + Q01968:p.His524Arg chrX 128428884 128428887 VAR_023958 + Q01968:p.Pro526Leu chrX 128428905 128428908 VAR_010187 + Q01968:p.Ile533Ser chrX 128447735 128447738 VAR_010188 + Q01968:p.Ile768Asn chrX 128448444 128448447 VAR_010189 + Q01968:p.Ala797Pro chr19 46608387 46608390 VAR_034360 + P12694:p.Pro39His chr19 46611868 46611871 VAR_034361 + P12694:p.Thr151Met chr19 46611892 46611895 VAR_004968 + P12694:p.Arg159Trp chr19 46616962 46616965 VAR_004969 + P12694:p.Gln190Lys chr19 46620018 46620021 VAR_004970 + P12694:p.Ala253Thr chr19 46620387 46620390 VAR_015101 + P12694:p.Gly290Arg chr19 46620495 46620498 VAR_004971 + P12694:p.Ile326Thr chr19 46622239 46622242 VAR_015102 + P12694:p.Phe409Cys chr19 46622251 46622254 VAR_004972 + P12694:p.Tyr413Cys chr19 46622326 46622329 VAR_004973 + P12694:p.Tyr438Asn chr6 80935379 80935382 VAR_024851 + P21953:p.Arg183Pro chr6 80935448 80935451 VAR_004974 + P21953:p.His206Arg chr6 80967458 80967461 VAR_024852 + P21953:p.Gly278Ser chr8 103642180 103642183 VAR_031684 + Q14990:p.Ser216Asn chr8 103642189 103642216 VAR_005523 + Q14990:p.219_227del chr9 128340360 128340363 VAR_034821 + Q5BJF6:p.Thr710Ser chr4 97119316 97119319 VAR_034358 + P29803:p.Met280Leu chr4 97119604 97119607 VAR_034359 + P29803:p.Arg376Gly chrX 19121839 19121842 VAR_010238 + P08559:p.Arg10Pro chrX 19127807 19127810 VAR_004949 + P08559:p.Arg72Cys chrX 19129100 19129103 VAR_004950 + P08559:p.His113Asp chrX 19130921 19130924 VAR_004951 + P08559:p.Gly162Arg chrX 19130936 19130939 VAR_004952 + P08559:p.Val167Met chrX 19132349 19132352 VAR_004953 + P08559:p.Ala199Thr chrX 19133132 19133135 VAR_004954 + P08559:p.Phe205Leu chrX 19133147 19133150 VAR_004955 + P08559:p.Met210Val chrX 19133168 19133171 VAR_004956 + P08559:p.Pro217Leu chrX 19133210 19133213 VAR_004957 + P08559:p.Thr231Ala chrX 19133246 19133249 VAR_021053 + P08559:p.Tyr243Asn chrX 19133472 19133475 VAR_004958 + P08559:p.Asp258Ala chrX 19133487 19133490 VAR_004959 + P08559:p.Arg263Gly chrX 19133487 19133490 VAR_004960 + P08559:p.Arg263Gln chrX 19135438 19135441 VAR_021054 + P08559:p.Met282Leu chrX 19135456 19135459 VAR_021055 + P08559:p.Arg288His chrX 19135468 19135471 VAR_004961 + P08559:p.His292Leu chrX 19136694 19136697 VAR_004962 + P08559:p.Arg302Cys chrX 19136694 19136697 VAR_004963 + P08559:p.Arg302His chrX 19136703 19136706 VAR_020908 + P08559:p.Glu305Glu chrX 19136709 19136712 VAR_020909 + P08559:p.Ile307Ile chrX 19136721 19136724 VAR_004964 + P08559:p.311del chrX 19136727 19136730 VAR_004965 + P08559:p.313del chrX 19136733 19136736 VAR_021056 + P08559:p.Asp315Asn chrX 19137386 19137389 VAR_004966 + P08559:p.Arg378His chr3 58394400 58394403 VAR_004967 - P11177:p.Leu31Val chr3 58391616 58391619 VAR_030954 - P11177:p.Tyr132Cys chr3 58388848 58388851 VAR_021058 - P11177:p.Pro344Ser chrX 13514361 13514364 VAR_015574 + O75665:p.Ser74Phe chrX 13514376 13514379 VAR_030789 + O75665:p.Ala79Thr chrX 13531159 13531168 VAR_013753 + O75665:p.Lys358_Asp360delinsPheSerTyr chrX 13534434 13534437 VAR_013754 + O75665:p.Ser435Arg chr10 50623491 50623494 VAR_037125 - Q9ULD0:p.Pro511Leu chr10 50622714 50622717 VAR_037126 - Q9ULD0:p.Asp573Asn chr10 50621022 50621025 VAR_037127 - Q9ULD0:p.Ser623Cys chr10 50620980 50620983 VAR_037128 - Q9ULD0:p.Thr637Met chr10 50617856 50617859 VAR_037129 - Q9ULD0:p.Asn725Ser chr20 60915140 60915143 VAR_030011 + Q9NZT2:p.Ser577Thr chr3 9767003 9767006 VAR_024831 + O15527:p.Gly12Glu chr3 9767105 9767107 VAR_009519 + O15527:p.Arg46Gln chr3 9767628 9767629 VAR_009519 + O15527:p.Arg46Gln chr3 9767743 9767746 VAR_024832 + O15527:p.Ala85Ser chr3 9768458 9768461 VAR_024833 + O15527:p.Arg131Gln chr3 9768527 9768530 VAR_009520 + O15527:p.Arg154His chr3 9771506 9771509 VAR_014487 + O15527:p.Arg229Gln chr3 9771515 9771518 VAR_024834 + O15527:p.Ser232Thr chr3 9773268 9773271 VAR_018890 + O15527:p.Ala288Val chr3 9773753 9773756 VAR_014488 + O15527:p.Ser320Thr chr3 9773759 9773762 VAR_018891 + O15527:p.Asp322Asn chr3 9773771 9773774 VAR_009521 + O15527:p.Ser326Cys chr6 72055498 72055501 VAR_037842 + Q5TC84:p.Ser47Pro chr6 72068302 72068305 VAR_037843 + Q5TC84:p.396del chr10 74341521 74341524 VAR_034742 + Q8WWZ8:p.Ser237Pro chr2 174832104 174832107 VAR_036613 - Q9NTK5:p.Glu168Gln chr11 7487560 7487563 VAR_034363 + Q6UWY5:p.Ala259Thr chr9 124645931 124645934 VAR_037250 + Q68BL7:p.Thr309Ala chr9 124649717 124649720 VAR_037251 + Q68BL7:p.Arg425Gln chr12 10204714 10204717 VAR_023200 - P78380:p.Lys167Asn chr1 58716786 58716789 VAR_034958 - Q96E52:p.Asn67Lys chr1 58716636 58716639 VAR_034959 - Q96E52:p.Pro117Leu chr1 58714301 58714304 VAR_034960 - Q96E52:p.Phe211Cys chr1 58714256 58714259 VAR_035708 - Q96E52:p.Leu226Val chr1 58711669 58711672 VAR_034961 - Q96E52:p.Ile329Leu chr7 97264007 97264010 VAR_030191 - P32930:p.Gln20Arg chr3 194815292 194815310 VAR_022923 + O60313:p.38_43del chr3 194844554 194844557 VAR_011485 + O60313:p.432del chr3 194844593 194844596 VAR_015741 + O60313:p.Arg445His chr3 194855368 194855380 VAR_022930 + O60313:p.586_589del chr19 50748872 50748875 VAR_033103 - Q9H6K4:p.Gly93Ser chr19 50748836 50748839 VAR_033104 - Q9H6K4:p.Gln105Glu chrX 67435748 67435751 VAR_013638 - O60890:p.Ala45Thr chrX 67209465 67209468 VAR_013639 - O60890:p.Thr301Met chrX 67066795 67066798 VAR_033452 - O60890:p.Met693Ile chr10 88404547 88404550 VAR_029774 + Q9UHM6:p.Pro10Leu chr10 88412094 88412097 VAR_020430 + Q9UHM6:p.Thr394Ile chr10 88413470 88413473 VAR_029775 + Q9UHM6:p.Gly444Asp chr8 54304430 54304433 VAR_028067 - P41145:p.Asp374Asn chr6 154452808 154452811 VAR_009525 + P35372:p.Ala6Val chr6 154452910 154452913 VAR_009524 + P35372:p.Asn40Asp chr6 154503222 154503225 VAR_009526 + P35372:p.Ser147Cys chr6 154503237 154503240 VAR_019252 + P35372:p.Asn152Asp chr6 154504334 154504337 VAR_009527 + P35372:p.Arg260His chr6 154504349 154504352 VAR_019253 + P35372:p.Arg265Cys chr6 154504376 154504379 VAR_019254 + P35372:p.Asp274Asn chr9 34627688 34627691 VAR_029750 - Q99720:p.Gln2Pro chr9 34625667 34625670 VAR_029751 - Q99720:p.Arg211Gln chr7 128009558 128009561 VAR_004838 - P03999:p.Gly79Arg chr7 128008547 128008550 VAR_004839 - P03999:p.Ser214Pro chr7 128007788 128007791 VAR_004840 - P03999:p.Pro264Ser chr3 130730283 130730286 VAR_004765 + P08100:p.Thr4Lys chr3 130730316 130730319 VAR_004766 + P08100:p.Asn15Ser chr3 130730322 130730325 VAR_004767 + P08100:p.Thr17Met chr3 130730340 130730343 VAR_004768 + P08100:p.Pro23His chr3 130730340 130730343 VAR_004769 + P08100:p.Pro23Leu chr3 130730355 130730358 VAR_004770 + P08100:p.Gln28His chr3 130730391 130730394 VAR_004771 + P08100:p.Leu40Arg chr3 130730403 130730406 VAR_004772 + P08100:p.Met44Thr chr3 130730406 130730409 VAR_004773 + P08100:p.Phe45Leu chr3 130730409 130730412 VAR_004774 + P08100:p.Leu46Arg chr3 130730424 130730427 VAR_004775 + P08100:p.Gly51Ala chr3 130730424 130730427 VAR_004776 + P08100:p.Gly51Arg chr3 130730424 130730427 VAR_004777 + P08100:p.Gly51Val chr3 130730430 130730433 VAR_004778 + P08100:p.Pro53Arg chr3 130730445 130730448 VAR_004779 + P08100:p.Thr58Arg chr3 130730475 130730487 VAR_004780 + P08100:p.68_71del chr3 130730532 130730535 VAR_004781 + P08100:p.Val87Asp chr3 130730538 130730541 VAR_004782 + P08100:p.Gly89Asp chr3 130730541 130730544 VAR_004783 + P08100:p.Gly90Asp chr3 130730553 130730556 VAR_004784 + P08100:p.Thr94Ile chr3 130730583 130730586 VAR_004785 + P08100:p.Val104Ile chr3 130730589 130730592 VAR_004786 + P08100:p.Gly106Arg chr3 130730589 130730592 VAR_004787 + P08100:p.Gly106Trp chr3 130730598 130730601 VAR_004788 + P08100:p.Gly109Arg chr3 130730601 130730604 VAR_004789 + P08100:p.Cys110Phe chr3 130730601 130730604 VAR_004790 + P08100:p.Cys110Tyr chr3 130730613 130730616 VAR_004791 + P08100:p.Gly114Asp chr3 130732427 130732430 VAR_004792 + P08100:p.Leu125Arg chr3 130732433 130732436 VAR_004793 + P08100:p.Ser127Phe chr3 130732445 130732448 VAR_004794 + P08100:p.Leu131Pro chr3 130732457 130732460 VAR_004795 + P08100:p.Arg135Gly chr3 130732457 130732460 VAR_004796 + P08100:p.Arg135Leu chr3 130732457 130732460 VAR_004797 + P08100:p.Arg135Trp chr3 130732472 130732475 VAR_004798 + P08100:p.Cys140Ser chr3 130732502 130732505 VAR_004799 + P08100:p.Glu150Lys chr3 130732544 130732547 VAR_004800 + P08100:p.Ala164Glu chr3 130732544 130732547 VAR_004801 + P08100:p.Ala164Val chr3 130732553 130732556 VAR_004802 + P08100:p.Cys167Arg chr3 130732565 130732568 VAR_004803 + P08100:p.Pro171Leu chr3 130732565 130732568 VAR_004804 + P08100:p.Pro171Gln chr3 130732565 130732568 VAR_004805 + P08100:p.Pro171Ser chr3 130733792 130733795 VAR_004806 + P08100:p.Tyr178Cys chr3 130733792 130733795 VAR_004807 + P08100:p.Tyr178Asn chr3 130733801 130733804 VAR_004808 + P08100:p.Glu181Lys chr3 130733804 130733807 VAR_004809 + P08100:p.Gly182Ser chr3 130733816 130733819 VAR_004810 + P08100:p.Ser186Pro chr3 130733822 130733825 VAR_004811 + P08100:p.Gly188Glu chr3 130733822 130733825 VAR_004812 + P08100:p.Gly188Arg chr3 130733828 130733831 VAR_004814 + P08100:p.Asp190Gly chr3 130733828 130733831 VAR_004813 + P08100:p.Asp190Asn chr3 130733828 130733831 VAR_004815 + P08100:p.Asp190Tyr chr3 130733879 130733882 VAR_004816 + P08100:p.Met207Arg chr3 130733885 130733888 VAR_004817 + P08100:p.Val209Met chr3 130733891 130733894 VAR_004818 + P08100:p.His211Pro chr3 130733891 130733894 VAR_004819 + P08100:p.His211Arg chr3 130733906 130733909 VAR_004820 + P08100:p.Met216Lys chr3 130733918 130733921 VAR_004821 + P08100:p.Phe220Cys chr3 130733924 130733927 VAR_004822 + P08100:p.Cys222Arg chr3 130734139 130734142 VAR_004823 + P08100:p.255del chr3 130734166 130734169 VAR_004824 + P08100:p.264del chr3 130734175 130734178 VAR_004825 + P08100:p.Pro267Leu chr3 130734175 130734178 VAR_004826 + P08100:p.Pro267Arg chr3 130734250 130734253 VAR_004827 + P08100:p.Ala292Glu chr3 130734262 130734265 VAR_004828 + P08100:p.Lys296Glu chr3 130734265 130734268 VAR_004829 + P08100:p.Ser297Arg chr3 130735235 130735238 VAR_004830 + P08100:p.Thr342Met chr3 130735244 130735247 VAR_004831 + P08100:p.Val345Leu chr3 130735244 130735247 VAR_004832 + P08100:p.Val345Met chr3 130735250 130735253 VAR_004833 + P08100:p.Pro347Ala chr3 130735250 130735253 VAR_004834 + P08100:p.Pro347Leu chr3 130735250 130735253 VAR_004835 + P08100:p.Pro347Gln chr3 130735250 130735253 VAR_004836 + P08100:p.Pro347Arg chr3 130735250 130735253 VAR_004837 + P08100:p.Pro347Ser chrX 152978053 152978056 VAR_004841 + P04001:p.Cys203Arg chrX 152937054 152937057 VAR_012009 + P04000:p.Thr65Ile chrX 152937192 152937195 VAR_012010 + P04000:p.Ile111Val chrX 152937207 152937210 VAR_012011 + P04000:p.Ser116Tyr chrX 152939306 152939309 VAR_012012 + P04000:p.Leu153Met chrX 152939369 152939372 VAR_012013 + P04000:p.Ala174Val chrX 152939387 152939390 VAR_004842 + P04000:p.Ser180Ala chrX 152940923 152940926 VAR_009298 + P04000:p.Cys203Arg chrX 152941004 152941007 VAR_012014 + P04000:p.Ile230Thr chrX 152942762 152942765 VAR_012015 + P04000:p.Ala298Pro chrX 152942789 152942792 VAR_009299 + P04000:p.Pro307Leu chrX 152942795 152942798 VAR_012016 + P04000:p.Tyr309Phe chr10 13191203 13191206 VAR_021537 + Q96CV9:p.His26Asp chr10 13191275 13191278 VAR_021538 + Q96CV9:p.Glu50Lys chr10 13192404 13192407 VAR_021539 + Q96CV9:p.Met98Lys chr10 13192419 13192422 VAR_021540 + Q96CV9:p.Glu103Asp chr10 13198320 13198323 VAR_021541 + Q96CV9:p.Pro201Ser chr10 13200903 13200906 VAR_021542 + Q96CV9:p.Lys213His chr10 13200912 13200915 VAR_021543 + Q96CV9:p.Ser216Arg chr10 13206039 13206042 VAR_030769 + Q96CV9:p.Ser308Pro chr10 13207493 13207496 VAR_021545 + Q96CV9:p.Thr357Pro chr10 13214126 13214129 VAR_021546 + Q96CV9:p.His486Arg chr10 13218770 13218773 VAR_021547 + Q96CV9:p.Arg545Gln chr17 3066360 3066363 VAR_034161 + Q9P1Q5:p.Val233Met chr17 3066516 3066519 VAR_020380 + Q9P1Q5:p.Pro285Ser chr17 3048327 3048330 VAR_022047 + Q9Y585:p.Gly256Cys chr17 3048339 3048342 VAR_034162 + Q9Y585:p.Arg260Cys chr17 3048438 3048441 VAR_034163 + Q9Y585:p.Trp293Cys chr17 3283804 3283807 VAR_029292 - P47887:p.Cys27Arg chr17 3283381 3283384 VAR_036207 - P47887:p.His168Asp chr16 3194469 3194472 VAR_024086 + O43749:p.Phe75Ser chr19 15059290 15059293 VAR_034164 + O60431:p.Pro139Arg chr19 15059506 15059509 VAR_034165 + O60431:p.Phe211Leu chr19 15059629 15059632 VAR_034166 + O60431:p.Tyr252Ser chr19 15059749 15059752 VAR_034167 + O60431:p.Ile292Thr chr9 122642765 122642768 VAR_034168 + Q8NGR3:p.Trp271Arg chr9 122517277 122517280 VAR_034169 + Q8NH93:p.Val106Ala chr9 122517322 122517325 VAR_034170 + Q8NH93:p.Asn121Asp chr9 122410229 122410232 VAR_024087 - Q8NGR8:p.Thr27Pro chr9 122409677 122409680 VAR_024088 - Q8NGR8:p.Arg211Pro chr9 122369072 122369075 VAR_024089 - Q8NGS0:p.Pro18Ser chr9 122368556 122368559 VAR_036208 - Q8NGS0:p.Thr190Asn chr9 122457056 122457059 VAR_024768 + Q15612:p.Ile163Met chr6 27987374 27987377 VAR_010943 - Q9GZK3:p.Gln234Arg chr6 28033804 28033807 VAR_024090 + P58173:p.Gln270Arg chr1 244021794 244021797 VAR_025540 - Q8N628:p.Thr19Ala chr1 244021650 244021653 VAR_025541 - Q8N628:p.Pro67Ser chr7 143070264 143070267 VAR_022048 + O95006:p.Ala98Val chr7 143070480 143070483 VAR_034172 + O95006:p.Thr170Ala chr7 143070804 143070807 VAR_034173 + O95006:p.Tyr278His chr1 244077771 244077774 VAR_034174 + Q8NGZ5:p.Pro24Ala chr1 244078059 244078062 VAR_034175 + Q8NGZ5:p.Val120Leu chr1 244078200 244078203 VAR_034176 + Q8NGZ5:p.Leu167Pro chr1 244078407 244078410 VAR_034177 + Q8NGZ5:p.Arg236Gly chr1 244095699 244095702 VAR_034178 + Q8NGZ4:p.Val258Met chr6 29537711 29537714 VAR_010944 + Q9GZK4:p.Asp63Asn chr1 244670036 244670039 VAR_034179 + Q96R28:p.Ala237Thr chr6 29120688 29120691 VAR_010953 - Q9Y3N9:p.Met81Val chr6 29120043 29120046 VAR_010954 - Q9Y3N9:p.Asp296Asn chr1 244385433 244385436 VAR_034180 + Q7Z3T1:p.Cys169Ser chr1 244385463 244385466 VAR_034181 + Q7Z3T1:p.Arg179Cys chr1 244385496 244385499 VAR_034182 + Q7Z3T1:p.Val190Ile chr1 244385514 244385517 VAR_034183 + Q7Z3T1:p.Glu196Asp chr1 244385742 244385745 VAR_034184 + Q7Z3T1:p.Met272Lys chr1 244385751 244385754 VAR_034185 + Q7Z3T1:p.Met275Thr chr5 180099064 180099067 VAR_034186 - Q8NGV0:p.Val200Leu chr17 3142251 3142254 VAR_012059 - P47881:p.Arg125Gln chr11 51268953 51268956 VAR_031741 - Q8NH83:p.Asn6Ser chr11 48195123 48195126 VAR_034189 + Q8NGF8:p.Cys63Tyr chr11 48195645 48195648 VAR_034190 + Q8NGF8:p.Thr237Asn chr11 55189614 55189617 VAR_034191 + Q8NH72:p.Ile133Thr chr11 49959764 49959767 VAR_034192 - Q96R67:p.Val283Leu chr11 55096404 55096407 VAR_034193 + Q8NGL9:p.Thr76Ala chr11 58981039 58981042 VAR_034194 + Q8NGJ1:p.Glu11Gln chr11 58981294 58981297 VAR_024091 + Q8NGJ1:p.Asp96Gly chr11 58981312 58981315 VAR_034195 + Q8NGJ1:p.Phe102Ser chr11 58981339 58981342 VAR_034196 + Q8NGJ1:p.Asp111Ala chr11 58981459 58981462 VAR_024092 + Q8NGJ1:p.Ser151Thr chr11 58981795 58981798 VAR_024093 + Q8NGJ1:p.Met263Thr chr11 59028212 59028215 VAR_034197 + Q8NGI4:p.Phe197Leu chr14 21203487 21203490 VAR_034198 + Q8NGC2:p.Val118Met chr14 21203835 21203838 VAR_034199 + Q8NGC2:p.Gln234Arg chr14 19459559 19459562 VAR_034200 + Q8NGD3:p.Arg319Lys chr14 19598046 19598049 VAR_034201 + Q8NH43:p.Asp2Asn chr14 19598160 19598163 VAR_034202 + Q8NH43:p.Met40Val chr14 19598196 19598199 VAR_024094 + Q8NH43:p.Arg52Ser chr14 19598319 19598322 VAR_034203 + Q8NH43:p.Ser93Phe chr14 19598343 19598346 VAR_034204 + Q8NH43:p.Met101Lys chr14 19598367 19598370 VAR_034205 + Q8NH43:p.Gly109Ser chr14 19318666 19318669 VAR_034206 + Q8NGD0:p.Thr116Ile chr14 19365849 19365852 VAR_034207 + Q8NGD1:p.Val135Leu chr14 19682304 19682307 VAR_024095 + Q8IXE1:p.Asn191Asp chr14 19682433 19682436 VAR_034208 + Q8IXE1:p.Ser234Thr chr14 19682511 19682514 VAR_034209 + Q8IXE1:p.Cys260Arg chr11 48242480 48242483 VAR_034210 + Q8NH49:p.Pro165Leu chr11 48242723 48242726 VAR_034211 + Q8NH49:p.Asp246Asn chr11 48242831 48242834 VAR_034212 + Q8NH49:p.Pro282Ser chr11 58967370 58967373 VAR_034213 + Q8NGJ0:p.Ile52Val chr11 58967763 58967766 VAR_024096 + Q8NGJ0:p.Asp183Asn chr11 58946486 58946489 VAR_024097 - Q8NGI9:p.Pro172Leu chr11 57882878 57882881 VAR_034219 - Q8NGF7:p.Leu80Ile chr11 55297672 55297675 VAR_024099 + Q8NGL4:p.Cys62Tyr chr11 55297858 55297861 VAR_024100 + Q8NGL4:p.Arg124His chr11 55298194 55298197 VAR_034220 + Q8NGL4:p.Arg236Leu chr11 55320351 55320354 VAR_034221 + Q8NGL3:p.Ser249Ala chr11 55320474 55320477 VAR_034222 + Q8NGL3:p.Leu290Pro chr11 55363268 55363271 VAR_034223 + Q8NGK9:p.Ala156Thr chr11 55344032 55344035 VAR_034224 + Q8NGL1:p.Val118Met chr11 55517795 55517798 VAR_034225 - O95221:p.Ser294Asn chr11 55460224 55460227 VAR_024101 - Q13606:p.Phe76Ser chr11 55701074 55701077 VAR_034226 + Q8NH18:p.Met136Ile chr11 55335653 55335656 VAR_034227 + Q8NGL2:p.Ile46Phe chr11 55336376 55336379 VAR_034228 + Q8NGL2:p.Ser287Pro chr11 55351510 55351513 VAR_034229 + Q8NGL0:p.Met81Arg chr11 55986643 55986646 VAR_034230 - Q8NGP3:p.Lys270Arg chr11 56066796 56066799 VAR_034231 - Q96RB7:p.Ser171Asn chr11 56066469 56066472 VAR_034232 - Q96RB7:p.Val280Leu chr11 55942263 55942266 VAR_024102 - Q8NH85:p.Ile7Thr chr11 55941918 55941921 VAR_024103 - Q8NH85:p.Cys122Arg chr11 55941732 55941735 VAR_024104 - Q8NH85:p.Phe184Leu chr11 55941462 55941465 VAR_024105 - Q8NH85:p.Ala274Val chr11 55800179 55800182 VAR_034233 + Q8NG75:p.Ser164Gly chr11 55438145 55438148 VAR_034236 - Q8NH69:p.Ala163Pro chr11 55438067 55438070 VAR_034237 - Q8NH69:p.Arg189Cys chr7 143139163 143139166 VAR_034238 + O95007:p.Arg143Cys chr12 54001037 54001040 VAR_034239 + Q96RD1:p.Cys130Tyr chr12 54001142 54001145 VAR_034240 + Q96RD1:p.His165Asp chr12 54001313 54001316 VAR_034241 + Q96RD1:p.Thr222Ile chr12 54001385 54001388 VAR_034242 + Q96RD1:p.Val246Ile chr12 54132804 54132807 VAR_034243 + Q9NZP2:p.Pro181Ala chr12 54132888 54132891 VAR_034244 + Q9NZP2:p.Leu209Pro chr12 54012450 54012453 VAR_034245 + Q9NZP0:p.Ala234Ser chr12 54231385 54231388 VAR_034246 + Q8NGE1:p.Ile37Val chr1 244201453 244201456 VAR_034247 - Q8NGZ6:p.Phe215Leu chr1 155483497 155483500 VAR_034248 - Q8NGY2:p.Arg6Gln chr1 155483047 155483050 VAR_034249 - Q8NGY2:p.Leu156Val chr1 155483038 155483041 VAR_034250 - Q8NGY2:p.Ile159Phe chr1 155549515 155549518 VAR_024106 - Q8NGY5:p.Ala10Thr chr1 155548963 155548966 VAR_024107 - Q8NGY5:p.Ile194Thr chr1 155548762 155548765 VAR_024108 - Q8NGY5:p.Gln261Arg chr1 155548666 155548669 VAR_024109 - Q8NGY5:p.Arg293His chr7 142266982 142266985 VAR_034251 + Q8N148:p.Ser237Phe chr7 142267078 142267081 VAR_034252 + Q8N148:p.Arg269Lys chr7 142267156 142267159 VAR_034253 + Q8N148:p.Val295Ala chr11 123129866 123129869 VAR_024110 - Q8NH79:p.Thr190Asn chr19 14813140 14813143 VAR_034254 - O76100:p.Gln183Glu chr19 14771570 14771573 VAR_024111 - O76099:p.Val126Ile chr19 14771318 14771321 VAR_024112 - O76099:p.Ser210Pro chr19 14913651 14913654 VAR_027808 + O60412:p.Thr118Met chr19 9186357 9186360 VAR_037778 - Q8NG98:p.Asp52Gly chr19 9186288 9186291 VAR_037779 - Q8NG98:p.Ser75Cys chr19 9186276 9186279 VAR_037780 - Q8NG98:p.Pro79Leu chr19 9186261 9186264 VAR_037781 - Q8NG98:p.Ser84Asn chr19 9186249 9186252 VAR_037782 - Q8NG98:p.Arg88Trp chr19 9186120 9186123 VAR_037783 - Q8NG98:p.His131Gln chr19 9186114 9186117 VAR_037784 - Q8NG98:p.Thr133Met chr19 9186105 9186108 VAR_037785 - Q8NG98:p.Met136Ile chr19 9186096 9186099 VAR_037786 - Q8NG98:p.Cys139Arg chr19 9186096 9186099 VAR_037787 - Q8NG98:p.Cys139Tyr chr19 9186027 9186030 VAR_037788 - Q8NG98:p.Leu162Pro chr19 9185676 9185679 VAR_037789 - Q8NG98:p.Ala279Asp chr19 9185637 9185640 VAR_037790 - Q8NG98:p.Leu292Met chr19 9087016 9087019 VAR_034255 - Q8NGA0:p.Trp141Cys chr19 9086683 9086686 VAR_034256 - Q8NGA0:p.Tyr252Cys chr19 9098539 9098542 VAR_024114 - Q8NG95:p.Met29Val chr11 123799584 123799587 VAR_024115 - Q96RC9:p.Tyr131His chr11 123685290 123685293 VAR_024116 - Q8WZ84:p.Leu194Pro chr11 123694937 123694940 VAR_024117 - Q9GZM6:p.Arg122His chr11 123282510 123282513 VAR_034257 + Q8NGM9:p.Leu55Arg chr11 123282621 123282624 VAR_034258 + Q8NGM9:p.Ile92Val chr11 123282744 123282747 VAR_024118 + Q8NGM9:p.Arg133Lys chr11 123282945 123282948 VAR_024119 + Q8NGM9:p.Phe200Leu chr11 123282960 123282963 VAR_034259 + Q8NGM9:p.Phe205Ser chr11 123283194 123283197 VAR_024120 + Q8NGM9:p.Leu283Pro chr11 123283239 123283242 VAR_024121 + Q8NGM9:p.Arg298Lys chr11 55815048 55815051 VAR_034261 - Q8NGG4:p.Glu22Val chr11 55629451 55629454 VAR_034262 + Q8N162:p.His120Tyr chr11 55629598 55629601 VAR_034263 + Q8N162:p.Tyr169Cys chr11 55646832 55646835 VAR_034264 + Q8N146:p.Pro137Ser chr11 55647024 55647027 VAR_024122 + Q8N146:p.Ile201Val chr11 55647306 55647309 VAR_034265 + Q8N146:p.Arg295Lys chr11 55617728 55617731 VAR_034266 + Q8N0Y5:p.Ile124Val chr11 55617773 55617776 VAR_034267 + Q8N0Y5:p.Lys139Asn chr11 55884403 55884406 VAR_034268 + Q8NGP2:p.Gly36Val chr11 55884637 55884640 VAR_034269 + Q8NGP2:p.Met114Leu chr11 55870150 55870153 VAR_034270 + Q8NGG5:p.Met21Val chr11 55870168 55870171 VAR_034271 + Q8NGG5:p.Pro27Thr chr11 55870339 55870342 VAR_034272 + Q8NGG5:p.Ala84Thr chr11 55842721 55842724 VAR_024123 + Q8NH51:p.Leu122Arg chr11 55842874 55842877 VAR_034273 + Q8NH51:p.Val173Ile chr11 55843180 55843183 VAR_034274 + Q8NH51:p.Ile275Met chr11 56224595 56224598 VAR_032777 + Q8NH87:p.Cys53Arg chr11 56224619 56224622 VAR_032778 + Q8NH87:p.Phe61Val chr11 56224685 56224688 VAR_032779 + Q8NH87:p.Thr83Ile chr11 56224772 56224775 VAR_032780 + Q8NH87:p.Tyr112Cys chr11 56224787 56224790 VAR_032781 + Q8NH87:p.Val117Met chr11 56225213 56225216 VAR_034276 + Q8NH87:p.Ala259Ser chr1 52579859 52579862 VAR_014507 - Q13415:p.Arg19Ser chr1 52573919 52573922 VAR_014508 - Q13415:p.Gln180His chr1 52573889 52573892 VAR_014509 - Q13415:p.Val190Met chr1 52566980 52566983 VAR_014510 - Q13415:p.Ala372Val chr1 52566194 52566197 VAR_014511 - Q13415:p.Arg441Met chr1 52566149 52566152 VAR_014512 - Q13415:p.Lys456Glu chr1 52563627 52563630 VAR_014513 - Q13415:p.Thr466Met chr1 52563618 52563621 VAR_014514 - Q13415:p.Cys469Tyr chr2 201639792 201639795 VAR_014515 - Q13416:p.Met106Lys chr2 201603607 201603610 VAR_021276 - Q13416:p.Arg521Gln chr6 88369922 88369925 VAR_014516 + Q9UBD5:p.Gln94Lys chr6 88372406 88372409 VAR_014517 + Q9UBD5:p.Gln126Arg chr6 88375601 88375604 VAR_014518 + Q9UBD5:p.Val217Ile chr6 88378550 88378553 VAR_014519 + Q9UBD5:p.Ile247Val chr6 88378670 88378673 VAR_014520 + Q9UBD5:p.Thr287Met chr6 88388429 88388432 VAR_014521 + Q9UBD5:p.Thr389Pro chr6 88429509 88429512 VAR_014522 + Q9UBD5:p.Arg588Cys chr6 88431221 88431224 VAR_020656 + Q9UBD5:p.Ala626Thr chr2 148564096 148564099 VAR_014523 - O43929:p.Leu56Val chr2 148550158 148550161 VAR_019235 - O43929:p.Asn78Ser chr7 103438594 103438597 VAR_011800 - O43913:p.Gly37Arg chr7 103438549 103438552 VAR_014524 - O43913:p.Lys52Asn chr7 103429596 103429599 VAR_014525 - O43913:p.Arg166Cys chr16 45282431 45282434 VAR_029283 + Q9Y5N6:p.Arg32Trp chr16 45284557 45284560 VAR_029284 + Q9Y5N6:p.Pro138Gln chr17 37590045 37590048 VAR_011633 - O43612:p.Leu16Arg chr13 40271215 40271218 VAR_012757 + Q9Y619:p.Gly27Glu chr13 40271215 40271218 VAR_012758 + Q9Y619:p.Gly27Arg chr13 40277314 40277317 VAR_012759 + Q9Y619:p.Pro126Arg chr13 40279514 40279517 VAR_012760 + Q9Y619:p.Glu180Lys chr13 40279538 40279541 VAR_012761 + Q9Y619:p.188del chr13 40279544 40279547 VAR_012762 + Q9Y619:p.Gly190Asp chr13 40280710 40280713 VAR_012763 + Q9Y619:p.Ile254Leu chr13 40281719 40281722 VAR_012764 + Q9Y619:p.Arg275Gln chr12 56398252 56398255 VAR_011897 + Q13438:p.Arg398Trp chr12 56398420 56398423 VAR_034364 + Q13438:p.Ser454Leu chr3 31764583 31764586 VAR_022100 - Q9BXB5:p.Asn254Asp chr3 126777836 126777839 VAR_036100 - Q9BXB4:p.Ser184Leu chr11 3068439 3068442 VAR_020414 - Q9H0X9:p.Ala774Thr chr11 59125875 59125878 VAR_036099 - P22059:p.Asp278Ala chr1 36584970 36584973 VAR_027741 - Q8WVF1:p.Pro31Arg chr1 36557514 36557517 VAR_027742 - Q8WVF1:p.Lys232Glu chr5 38919825 38919828 VAR_043512 + Q99650:p.His187Gln chr5 38919894 38919897 VAR_028972 + Q99650:p.Gly210Trp chr5 38954914 38954917 VAR_028973 + Q99650:p.Glu527Lys chr5 38957544 38957547 VAR_028974 + Q99650:p.Asp553Asn chr5 38959094 38959097 VAR_043513 + Q99650:p.Gly618Ala chr5 38961088 38961091 VAR_043514 + Q99650:p.Ile691Thr chr5 38969168 38969171 VAR_028975 + Q99650:p.Pro936Ser chr5 38969237 38969240 VAR_043515 + Q99650:p.Pro959Arg chr1 153026002 153026005 VAR_038743 + P02818:p.Arg94Gln chr9 74982073 74982076 VAR_026573 + Q92882:p.Leu159Phe chr4 89261182 89261185 VAR_014717 + P10451:p.Arg301His chrX 37968241 37968243 VAR_004843 + P00480:p.Arg26Gln chrX 37982760 37982761 VAR_004843 + P00480:p.Arg26Gln chrX 37982797 37982800 VAR_004844 + P00480:p.Gly39Cys chrX 37982800 37982803 VAR_004845 + P00480:p.Arg40Cys chrX 37982800 37982803 VAR_004846 + P00480:p.Arg40His chrX 37982809 37982812 VAR_004847 + P00480:p.Leu43Phe chrX 37982812 37982815 VAR_004848 + P00480:p.Thr44Ile chrX 37982815 37982818 VAR_004849 + P00480:p.Leu45Pro chrX 37982815 37982818 VAR_004850 + P00480:p.Leu45Val chrX 37982818 37982821 VAR_004851 + P00480:p.Lys46Arg chrX 37982821 37982824 VAR_004852 + P00480:p.Asn47Ile chrX 37982830 37982833 VAR_004853 + P00480:p.Gly50Arg chrX 37982845 37982848 VAR_004854 + P00480:p.Tyr55Asp chrX 37982848 37982851 VAR_004855 + P00480:p.Met56Thr chrX 37982860 37982863 VAR_004856 + P00480:p.Ser60Leu chrX 37982869 37982872 VAR_004857 + P00480:p.Leu63Pro chrX 37985283 37985286 VAR_004858 + P00480:p.Gly79Glu chrX 37985292 37985295 VAR_004859 + P00480:p.82del chrX 37985295 37985298 VAR_004860 + P00480:p.Gly83Asp chrX 37985295 37985298 VAR_004861 + P00480:p.Gly83Arg chrX 37985307 37985310 VAR_004862 + P00480:p.Glu87Lys chrX 37985310 37985313 VAR_004863 + P00480:p.Lys88Asn chrX 37985316 37985319 VAR_004864 + P00480:p.Ser90Arg chrX 37985322 37985325 VAR_004865 + P00480:p.Arg92Gln chrX 37985325 37985328 VAR_004866 + P00480:p.Thr93Ala chrX 37985328 37985331 VAR_004867 + P00480:p.Arg94Thr chrX 37985346 37985347 VAR_004868 + P00480:p.Gly100Asp chrX 37996811 37996813 VAR_004868 + P00480:p.Gly100Asp chrX 37996813 37996816 VAR_004869 + P00480:p.Phe101Leu chrX 37996816 37996819 VAR_004870 + P00480:p.Ala102Glu chrX 37996843 37996846 VAR_004871 + P00480:p.Leu111Pro chrX 37996861 37996864 VAR_004872 + P00480:p.His117Leu chrX 37996861 37996864 VAR_004873 + P00480:p.His117Arg chrX 37996885 37996888 VAR_004874 + P00480:p.Thr125Met chrX 37996888 37996891 VAR_004875 + P00480:p.Asp126Gly chrX 37996897 37996899 VAR_004876 + P00480:p.Arg129His chrX 38016744 38016745 VAR_004876 + P00480:p.Arg129His chrX 38016772 38016775 VAR_004877 + P00480:p.Leu139Ser chrX 38016775 38016778 VAR_010605 + P00480:p.Ala140Pro chrX 38016778 38016781 VAR_004878 + P00480:p.Arg141Pro chrX 38016778 38016781 VAR_004879 + P00480:p.Arg141Gln chrX 38016799 38016802 VAR_004880 + P00480:p.Leu148Phe chrX 38016832 38016835 VAR_004881 + P00480:p.Ile159Thr chrX 38016835 38016838 VAR_012651 + P00480:p.Ile160Ser chrX 38016838 38016841 VAR_004882 + P00480:p.Asn161Ser chrX 38016841 38016844 VAR_004883 + P00480:p.Gly162Arg chrX 38016859 38016862 VAR_004884 + P00480:p.His168Gln chrX 38016859 38016862 VAR_004885 + P00480:p.His168Arg chrX 38016871 38016874 VAR_009233 + P00480:p.Ile172Phe chrX 38016871 38016874 VAR_004886 + P00480:p.Ile172Met chrX 38016877 38016880 VAR_004887 + P00480:p.Ala174Pro chrX 38016880 38016883 VAR_004888 + P00480:p.Asp175Val chrX 38016883 38016886 VAR_004889 + P00480:p.Tyr176Cys chrX 38016889 38016895 VAR_004891 + P00480:p.178_179del chrX 38016889 38016892 VAR_004890 + P00480:p.Thr178Met chrX 38016895 38016898 VAR_004892 + P00480:p.Gln180His chrX 38019087 38019090 VAR_004893 + P00480:p.Glu181Gly chrX 38019090 38019093 VAR_004894 + P00480:p.His182Leu chrX 38019093 38019096 VAR_004895 + P00480:p.Tyr183Cys chrX 38019093 38019096 VAR_004896 + P00480:p.Tyr183Asp chrX 38019108 38019111 VAR_004897 + P00480:p.Gly188Arg chrX 38019108 38019111 VAR_009234 + P00480:p.Gly188Val chrX 38019117 38019120 VAR_012652 + P00480:p.Leu191Phe chrX 38019120 38019123 VAR_004898 + P00480:p.Ser192Arg chrX 38019129 38019132 VAR_004899 + P00480:p.Gly195Arg chrX 38019132 38019135 VAR_004900 + P00480:p.Asp196Val chrX 38019132 38019135 VAR_004901 + P00480:p.Asp196Tyr chrX 38019135 38019138 VAR_004902 + P00480:p.Gly197Glu chrX 38019135 38019138 VAR_009235 + P00480:p.Gly197Arg chrX 38019138 38019141 VAR_010606 + P00480:p.Asn198Lys chrX 38019147 38019150 VAR_004903 + P00480:p.Leu201Pro chrX 38019150 38019153 VAR_004904 + P00480:p.His202Tyr chrX 38019153 38019156 VAR_004905 + P00480:p.Ser203Cys chrX 38019162 38019165 VAR_012653 + P00480:p.Met206Ile chrX 38019162 38019165 VAR_004906 + P00480:p.Met206Arg chrX 38019165 38019168 VAR_004907 + P00480:p.Ser207Arg chrX 38019168 38019171 VAR_004908 + P00480:p.Ala208Thr chrX 38019171 38019174 VAR_004909 + P00480:p.Ala209Val chrX 38019183 38019186 VAR_004910 + P00480:p.Met213Lys chrX 38019186 38019189 VAR_010607 + P00480:p.His214Tyr chrX 38019192 38019195 VAR_004911 + P00480:p.Gln216Glu chrX 38019204 38019207 VAR_004912 + P00480:p.Pro220Ala chrX 38024220 38024223 VAR_004913 + P00480:p.Pro225Leu chrX 38024220 38024223 VAR_004914 + P00480:p.Pro225Arg chrX 38024220 38024223 VAR_004915 + P00480:p.Pro225Thr chrX 38024351 38024354 VAR_004916 + P00480:p.Thr242Ile chrX 38024357 38024360 VAR_004917 + P00480:p.Leu244Gln chrX 38024366 38024369 VAR_004918 + P00480:p.Thr247Lys chrX 38024390 38024393 VAR_004919 + P00480:p.His255Pro chrX 38024411 38024414 VAR_010608 + P00480:p.Thr262Lys chrX 38024414 38024417 VAR_004920 + P00480:p.Asp263Gly chrX 38024414 38024417 VAR_004921 + P00480:p.Asp263Asn chrX 38024417 38024420 VAR_004922 + P00480:p.Thr264Ala chrX 38024417 38024420 VAR_004923 + P00480:p.Thr264Ile chrX 38024420 38024423 VAR_010609 + P00480:p.Trp265Leu chrX 38024426 38024429 VAR_004924 + P00480:p.Ser267Arg chrX 38024429 38024432 VAR_004925 + P00480:p.Met268Thr chrX 38024432 38024435 VAR_004926 + P00480:p.Gly269Glu chrX 38024435 38024438 VAR_004927 + P00480:p.Gln270Arg chrX 38024441 38024444 VAR_004928 + P00480:p.272del chrX 38024456 38024459 VAR_004929 + P00480:p.Arg277Gln chrX 38024456 38024459 VAR_004930 + P00480:p.Arg277Trp chrX 38027364 38027367 VAR_012654 + P00480:p.Leu301Phe chrX 38027367 38027370 VAR_004931 + P00480:p.His302Leu chrX 38027367 38027370 VAR_004932 + P00480:p.His302Gln chrX 38027367 38027370 VAR_004933 + P00480:p.His302Tyr chrX 38027370 38027373 VAR_004934 + P00480:p.Cys303Arg chrX 38027370 38027373 VAR_004935 + P00480:p.Cys303Tyr chrX 38027373 38027376 VAR_004936 + P00480:p.Leu304Phe chrX 38027376 38027379 VAR_012655 + P00480:p.Pro305His chrX 38027388 38027391 VAR_004937 + P00480:p.309del chrX 38027421 38027424 VAR_004938 + P00480:p.Arg320Leu chrX 38027439 38027442 VAR_010610 + P00480:p.Glu326Lys chrX 38027451 38027454 VAR_004939 + P00480:p.Arg330Gly chrX 38027460 38027463 VAR_012656 + P00480:p.Thr333Ala chrX 38036492 38036495 VAR_004940 + P00480:p.Ala336Ser chrX 38036495 38036498 VAR_004941 + P00480:p.Val337Leu chrX 38036501 38036504 VAR_004942 + P00480:p.Val339Leu chrX 38036504 38036507 VAR_004943 + P00480:p.Ser340Pro chrX 38036507 38036510 VAR_012657 + P00480:p.Leu341Pro chrX 38036513 38036516 VAR_004944 + P00480:p.Thr343Lys chrX 38036519 38036522 VAR_004946 + P00480:p.Tyr345Cys chrX 38036519 38036522 VAR_004947 + P00480:p.Tyr345Asp chrX 38036546 38036549 VAR_004948 + P00480:p.Phe354Cys chr2 26662418 26662421 VAR_032226 - Q9HC10:p.Ala53Val chr2 26653609 26653612 VAR_032227 - Q9HC10:p.Arg82Cys chr2 26617033 26617036 VAR_032228 - Q9HC10:p.Pro490Gln chr2 26616958 26616961 VAR_032229 - Q9HC10:p.Ile515Thr chr2 26615382 26615385 VAR_032230 - Q9HC10:p.Val575Met chr2 26612021 26612024 VAR_032231 - Q9HC10:p.Arg773Ser chr2 26611958 26611961 VAR_032232 - Q9HC10:p.Arg794His chr2 26611759 26611762 VAR_028028 - Q9HC10:p.Arg818Trp chr2 26611747 26611750 VAR_032233 - Q9HC10:p.Arg822Trp chr2 26609970 26609973 VAR_032234 - Q9HC10:p.Leu1011Pro chr2 26609070 26609073 VAR_032235 - Q9HC10:p.Ala1083Pro chr2 26608023 26608026 VAR_032236 - Q9HC10:p.Arg1157Gln chr2 26605168 26605171 VAR_032237 - Q9HC10:p.Asp1322Glu chr2 26605165 26605168 VAR_035895 - Q9HC10:p.Glu1323Lys chr2 26600348 26600351 VAR_035896 - Q9HC10:p.Ile1547Val chr2 26599472 26599475 VAR_032238 - Q9HC10:p.Val1625Met chr2 26599409 26599412 VAR_028029 - Q9HC10:p.Pro1646Ser chr2 26598545 26598548 VAR_028030 - Q9HC10:p.Arg1680His chr2 26596272 26596275 VAR_032239 - Q9HC10:p.Pro1825Ala chr2 26595418 26595421 VAR_032240 - Q9HC10:p.Gly1888Asp chr2 26594720 26594723 VAR_032241 - Q9HC10:p.Arg1939Gln chr2 26594576 26594579 VAR_032242 - Q9HC10:p.Pro1987Arg chr11 17588340 17588343 VAR_037407 + Q6ZRI0:p.Thr658Met chr4 4322253 4322256 VAR_037755 - Q7RTM1:p.Ile241Val chr4 4317705 4317708 VAR_037756 - Q7RTM1:p.Asp309Glu chr4 4317330 4317333 VAR_037757 - Q7RTM1:p.Val434Met chr4 4317153 4317156 VAR_037758 - Q7RTM1:p.Lys493Thr chr4 4317084 4317087 VAR_037759 - Q7RTM1:p.Gln516His chr17 70438498 70438501 VAR_037760 + Q7RTS6:p.Ala392Val chr17 70438717 70438720 VAR_037761 + Q7RTS6:p.Gly465Trp chr17 70449198 70449201 VAR_037762 + Q7RTS5:p.Arg64Gln chr17 70449444 70449447 VAR_037763 + Q7RTS5:p.Arg146Gln chr17 70449694 70449697 VAR_037764 + Q7RTS5:p.Ser199Pro chr20 16677136 16677139 VAR_024537 + Q9NRC9:p.Leu31Pro chr2 240799712 240799715 VAR_020601 - Q8NHW6:p.Pro7Leu chr8 92166236 92166239 VAR_034144 + Q8N6M0:p.Arg283Gln chr14 56338808 56338811 VAR_029354 - P32243:p.Arg89Gly chr14 56338676 56338679 VAR_029355 - P32243:p.Pro133Thr chr14 56338673 56338676 VAR_029356 - P32243:p.Pro134Ala chr12 29539539 29539542 VAR_029089 - Q7RTY7:p.Arg133Cys chr12 29533837 29533840 VAR_029090 - Q7RTY7:p.Trp228Gly chr12 29530450 29530453 VAR_029091 - Q7RTY7:p.Lys330Glu chr12 29508815 29508818 VAR_029093 - Q7RTY7:p.Ser672Phe chr12 29506071 29506074 VAR_029094 - Q7RTY7:p.Gly754Arg chr12 29489556 29489559 VAR_029096 - Q7RTY7:p.Pro934Ser chr11 7684460 7684463 VAR_029097 - Q7RTZ1:p.Arg19Gln chr11 7678443 7678446 VAR_029098 - Q7RTZ1:p.Pro292Ser chr11 7673428 7673431 VAR_029100 - Q7RTZ1:p.Asn410Thr chr11 7669097 7669100 VAR_029103 - Q7RTZ1:p.Thr539Ile chr1 111669733 111669736 VAR_024459 - Q12889:p.Met477Thr chr1 111669352 111669355 VAR_024460 - Q12889:p.His604Gln chr1 111669178 111669181 VAR_035752 - Q12889:p.Leu662His chr1 111669136 111669139 VAR_016109 - Q12889:p.Glu676Gln chr1 31758312 31758315 VAR_033480 + O43613:p.Arg279Gln chr1 31761617 31761620 VAR_022063 + O43613:p.Ile408Val chr6 110832803 110832806 VAR_036244 - Q99489:p.Phe136Leu chr2 42901749 42901752 VAR_023940 - Q8TDS5:p.Leu407Val chr3 16288224 16288227 VAR_034855 + Q96HP4:p.Arg59Gln chr3 16302858 16302861 VAR_034856 + Q96HP4:p.Ser64Ala chr3 16302912 16302915 VAR_034857 + Q96HP4:p.Arg82Cys chr8 107760687 107760690 VAR_025861 + Q8N573:p.Glu11Gly chr8 107787999 107788002 VAR_025862 + Q8N573:p.Gln271Pro chr8 107788467 107788470 VAR_025863 + Q8N573:p.Lys427Arg chr3 25807830 25807833 VAR_036064 + Q9NWU1:p.Phe106Ile chr3 38246883 38246886 VAR_023232 + O95747:p.Thr304Ile chr3 38264177 38264180 VAR_025181 + O95747:p.Ser425Thr chr3 38264201 38264204 VAR_040969 + O95747:p.Pro433Ser chr3 8784825 8784828 VAR_031570 - P30559:p.Ala16Ser chr3 8784219 8784222 VAR_031571 - P30559:p.Ala218Thr chr19 41419203 41419206 VAR_023746 + Q15072:p.Arg8Lys chr18 31901302 31901305 VAR_037229 - Q96P16:p.Gln21His chr6 89924846 89924849 VAR_032081 + Q8IYS1:p.Lys333Glu chr3 137228608 137228611 VAR_022095 + Q06190:p.Asp745Asn chr17 3748132 3748135 VAR_025382 - P51575:p.351del chr12 120110702 120110705 VAR_028307 + Q99571:p.Ala6Ser chr12 120129365 120129368 VAR_014942 + Q99571:p.Ser242Gly chr22 19702202 19702205 VAR_020338 + O15547:p.Arg232His chr12 120033565 120033568 VAR_036444 + Q99572:p.Asn25Ser chr12 120068073 120068076 VAR_019648 + Q99572:p.Arg270His chr12 120077849 120077852 VAR_019650 + Q99572:p.Thr357Ser chr12 120084914 120084917 VAR_019651 + Q99572:p.Gln460Arg chr12 120085022 120085025 VAR_019652 + Q99572:p.Glu496Ala chr12 120085256 120085259 VAR_036445 + Q99572:p.Arg574Leu chrX 69261991 69261994 VAR_011854 - P51582:p.Val168Met chrX 69261961 69261964 VAR_011855 - P51582:p.Asn178Thr chrX 69261922 69261925 VAR_011856 - P51582:p.Pro191Leu chr13 47884461 47884464 VAR_022636 - P43657:p.Ile33Val chr13 47884149 47884152 VAR_016253 - P43657:p.Cys137Trp chrX 78022168 78022171 VAR_033481 + O00398:p.Asn3His chr19 10085547 10085550 VAR_020074 + Q96G91:p.Ala87Thr chr3 152538563 152538566 VAR_025383 - Q9H244:p.Arg256Gln chr3 152538536 152538539 VAR_025384 - Q9H244:p.Arg265Trp chr3 152414382 152414385 VAR_035767 - Q15391:p.Leu140Pro chr15 65315425 65315428 VAR_021533 - Q6PD74:p.Ile132Leu chr11 17075260 17075263 VAR_023333 - O00443:p.Thr1415Ala chr1 42892579 42892582 VAR_033252 - Q32P28:p.Gly349Arg chr1 42887088 42887091 VAR_033253 - Q32P28:p.Pro506Arg chr1 42885022 42885025 VAR_033254 - Q32P28:p.Met549Ile chr11 73665812 73665815 VAR_038675 - Q7Z4N8:p.Asp400Asn chr4 24912285 24912288 VAR_031974 + Q8TCG2:p.Ser78Pro chr17 7520616 7520619 VAR_005851 - P04637:p.Asp7His chr17 7520306 7520309 VAR_005852 - P04637:p.Leu35Phe chr17 7520282 7520285 VAR_005853 - P04637:p.Leu43Ser chr17 7520270 7520273 VAR_014632 - P04637:p.Pro47Ser chr17 7520252 7520255 VAR_005854 - P04637:p.Trp53Cys chr17 7520231 7520234 VAR_005855 - P04637:p.Pro60Ser chr17 7520195 7520198 VAR_005856 - P04637:p.Pro72Arg chr17 7520174 7520177 VAR_005857 - P04637:p.Ala79Thr chr17 7520150 7520153 VAR_005858 - P04637:p.Pro87Gln chr17 7520129 7520132 VAR_005859 - P04637:p.Ser94Thr chr17 7520081 7520084 VAR_005860 - P04637:p.Arg110Cys chr17 7520081 7520084 VAR_005861 - P04637:p.Arg110Leu chr17 7520081 7520084 VAR_005862 - P04637:p.Arg110Pro chr17 7520072 7520075 VAR_005863 - P04637:p.Phe113Cys chr17 7520072 7520075 VAR_033033 - P04637:p.Phe113Val chr17 7520036 7520039 VAR_005864 - P04637:p.Thr125Met chr17 7519276 7519279 VAR_005865 - P04637:p.Tyr126Asp chr17 7519276 7519279 VAR_005866 - P04637:p.Tyr126Asn chr17 7519273 7519276 VAR_005867 - P04637:p.Ser127Phe chr17 7519270 7519273 VAR_005868 - P04637:p.Pro128Ser chr17 7519267 7519270 VAR_005869 - P04637:p.Ala129Asp chr17 7519264 7519267 VAR_005870 - P04637:p.Leu130Arg chr17 7519261 7519264 VAR_005872 - P04637:p.Asn131Lys chr17 7519261 7519264 VAR_005871 - P04637:p.Asn131Ser chr17 7519258 7519261 VAR_005873 - P04637:p.Lys132Met chr17 7519258 7519261 VAR_005874 - P04637:p.Lys132Gln chr17 7519255 7519258 VAR_005875 - P04637:p.Met133Thr chr17 7519252 7519255 VAR_036504 - P04637:p.Phe134Leu chr17 7519249 7519252 VAR_005877 - P04637:p.Cys135Phe chr17 7519249 7519252 VAR_005876 - P04637:p.Cys135Ser chr17 7519246 7519249 VAR_005878 - P04637:p.Gln136Glu chr17 7519246 7519249 VAR_005879 - P04637:p.Gln136Lys chr17 7519243 7519246 VAR_005880 - P04637:p.Leu137Gln chr17 7519240 7519243 VAR_005881 - P04637:p.Ala138Pro chr17 7519240 7519243 VAR_033034 - P04637:p.Ala138Val chr17 7519237 7519240 VAR_005882 - P04637:p.Lys139Asn chr17 7519231 7519234 VAR_005885 - P04637:p.Cys141Phe chr17 7519231 7519234 VAR_005884 - P04637:p.Cys141Gly chr17 7519231 7519234 VAR_005886 - P04637:p.Cys141Tyr chr17 7519225 7519228 VAR_005887 - P04637:p.Val143Ala chr17 7519222 7519225 VAR_005888 - P04637:p.Gln144Pro chr17 7519219 7519222 VAR_005889 - P04637:p.Leu145Pro chr17 7519219 7519222 VAR_005890 - P04637:p.Leu145Gln chr17 7519213 7519216 VAR_005891 - P04637:p.Val147Asp chr17 7519213 7519216 VAR_005892 - P04637:p.Val147Gly chr17 7519207 7519210 VAR_005893 - P04637:p.Ser149Pro chr17 7519201 7519204 VAR_005894 - P04637:p.Pro151Ala chr17 7519201 7519204 VAR_005895 - P04637:p.Pro151Ser chr17 7519201 7519204 VAR_005896 - P04637:p.Pro151Thr chr17 7519198 7519201 VAR_005897 - P04637:p.Pro152Leu chr17 7519198 7519201 VAR_005898 - P04637:p.Pro152Ser chr17 7519195 7519198 VAR_005899 - P04637:p.Pro153Thr chr17 7519192 7519195 VAR_005900 - P04637:p.Gly154Val chr17 7519189 7519192 VAR_005901 - P04637:p.Thr155Ala chr17 7519186 7519189 VAR_005902 - P04637:p.Arg156Pro chr17 7519183 7519186 VAR_005903 - P04637:p.Val157Asp chr17 7519183 7519186 VAR_005904 - P04637:p.Val157Phe chr17 7519183 7519186 VAR_012977 - P04637:p.Val157Ile chr17 7519180 7519183 VAR_005905 - P04637:p.Arg158Cys chr17 7519180 7519183 VAR_005906 - P04637:p.Arg158Gly chr17 7519180 7519183 VAR_005907 - P04637:p.Arg158His chr17 7519174 7519177 VAR_005908 - P04637:p.Met160Ile chr17 7519171 7519174 VAR_005909 - P04637:p.Ala161Ser chr17 7519168 7519171 VAR_005910 - P04637:p.Ile162Ser chr17 7519168 7519171 VAR_005911 - P04637:p.Ile162Val chr17 7519165 7519168 VAR_033035 - P04637:p.Tyr163Cys chr17 7519165 7519168 VAR_005912 - P04637:p.Tyr163His chr17 7519162 7519165 VAR_005913 - P04637:p.Lys164Asn chr17 7519162 7519165 VAR_005914 - P04637:p.Lys164Gln chr17 7519159 7519162 VAR_005915 - P04637:p.Gln165Leu chr17 7519159 7519162 VAR_005916 - P04637:p.Gln165Arg chr17 7519156 7519159 VAR_005917 - P04637:p.Ser166Leu chr17 7519150 7519153 VAR_005918 - P04637:p.His168Arg chr17 7519147 7519150 VAR_005919 - P04637:p.Met169Ile chr17 7519147 7519150 VAR_005920 - P04637:p.Met169Thr chr17 7519144 7519147 VAR_005921 - P04637:p.Thr170Met chr17 7519144 7519147 VAR_005922 - P04637:p.Thr170Ser chr17 7519138 7519141 VAR_005923 - P04637:p.Val172Ala chr17 7519135 7519138 VAR_005924 - P04637:p.Val173Glu chr17 7519135 7519138 VAR_005925 - P04637:p.Val173Leu chr17 7519135 7519138 VAR_005926 - P04637:p.Val173Met chr17 7519132 7519135 VAR_005927 - P04637:p.Arg174His chr17 7519129 7519132 VAR_005928 - P04637:p.Arg175Cys chr17 7519129 7519132 VAR_005929 - P04637:p.Arg175Gly chr17 7519129 7519132 VAR_005932 - P04637:p.Arg175His chr17 7519129 7519132 VAR_005930 - P04637:p.Arg175Leu chr17 7519129 7519132 VAR_005931 - P04637:p.Arg175Pro chr17 7519126 7519129 VAR_005933 - P04637:p.Cys176Phe chr17 7519126 7519129 VAR_005934 - P04637:p.Cys176Trp chr17 7519123 7519126 VAR_005935 - P04637:p.Pro177Leu chr17 7519123 7519126 VAR_036505 - P04637:p.Pro177Arg chr17 7519120 7519123 VAR_005936 - P04637:p.His178His chr17 7519111 7519114 VAR_005937 - P04637:p.Arg181Leu chr17 7519108 7519111 VAR_005938 - P04637:p.Cys182Ser chr17 7519102 7519105 VAR_005939 - P04637:p.Asp184Tyr chr17 7519096 7519099 VAR_005940 - P04637:p.Asp186Tyr chr17 7519006 7519009 VAR_005943 - P04637:p.Ala189Pro chr17 7519003 7519006 VAR_005944 - P04637:p.Pro190Leu chr17 7519000 7519003 VAR_005945 - P04637:p.Pro191Thr chr17 7518997 7519000 VAR_005946 - P04637:p.Gln192Arg chr17 7518994 7518997 VAR_005947 - P04637:p.His193Asp chr17 7518994 7518997 VAR_005948 - P04637:p.His193Arg chr17 7518991 7518994 VAR_005949 - P04637:p.Leu194Pro chr17 7518991 7518994 VAR_005950 - P04637:p.Leu194Arg chr17 7518988 7518991 VAR_005951 - P04637:p.Ile195Thr chr17 7518979 7518982 VAR_005952 - P04637:p.Glu198Lys chr17 7518958 7518961 VAR_005953 - P04637:p.Tyr205Cys chr17 7518958 7518961 VAR_005954 - P04637:p.Tyr205Asp chr17 7518934 7518937 VAR_036506 - P04637:p.Arg213Pro chr17 7518934 7518937 VAR_005955 - P04637:p.Arg213Gln chr17 7518925 7518928 VAR_005956 - P04637:p.Val216Met chr17 7518913 7518916 VAR_005957 - P04637:p.Tyr220Cys chr17 7518913 7518916 VAR_005958 - P04637:p.Tyr220His chr17 7518913 7518916 VAR_005959 - P04637:p.Tyr220Ser chr17 7518321 7518324 VAR_005960 - P04637:p.Asp228Glu chr17 7518315 7518318 VAR_005961 - P04637:p.Thr230Ile chr17 7518309 7518312 VAR_005962 - P04637:p.Ile232Thr chr17 7518303 7518306 VAR_005963 - P04637:p.Tyr234Cys chr17 7518303 7518306 VAR_005964 - P04637:p.Tyr234His chr17 7518294 7518297 VAR_005965 - P04637:p.Met237Ile chr17 7518291 7518294 VAR_005966 - P04637:p.Cys238Phe chr17 7518291 7518294 VAR_005967 - P04637:p.Cys238Tyr chr17 7518285 7518288 VAR_005968 - P04637:p.Ser240Ile chr17 7518282 7518285 VAR_033036 - P04637:p.Ser241Ala chr17 7518282 7518285 VAR_005969 - P04637:p.Ser241Phe chr17 7518279 7518282 VAR_005970 - P04637:p.Cys242Phe chr17 7518270 7518273 VAR_005971 - P04637:p.Gly245Ala chr17 7518270 7518273 VAR_005972 - P04637:p.Gly245Cys chr17 7518270 7518273 VAR_005973 - P04637:p.Gly245Asp chr17 7518270 7518273 VAR_005974 - P04637:p.Gly245Ser chr17 7518270 7518273 VAR_005975 - P04637:p.Gly245Val chr17 7518267 7518270 VAR_044020 - P04637:p.Met246Leu chr17 7518267 7518270 VAR_005976 - P04637:p.Met246Arg chr17 7518267 7518270 VAR_005977 - P04637:p.Met246Thr chr17 7518267 7518270 VAR_005978 - P04637:p.Met246Val chr17 7518264 7518267 VAR_005980 - P04637:p.Asn247Ile chr17 7518261 7518264 VAR_005981 - P04637:p.Arg248Gly chr17 7518261 7518264 VAR_005982 - P04637:p.Arg248Leu chr17 7518261 7518264 VAR_005983 - P04637:p.Arg248Gln chr17 7518261 7518264 VAR_005984 - P04637:p.Arg248Trp chr17 7518258 7518261 VAR_005985 - P04637:p.Arg249Gly chr17 7518258 7518261 VAR_033037 - P04637:p.Arg249Met chr17 7518258 7518261 VAR_005986 - P04637:p.Arg249Ser chr17 7518252 7518255 VAR_005987 - P04637:p.Ile251Asn chr17 7518252 7518255 VAR_033038 - P04637:p.Ile251Ser chr17 7518249 7518252 VAR_005988 - P04637:p.Leu252Pro chr17 7518243 7518246 VAR_017908 - P04637:p.Ile254Asn chr17 7518243 7518246 VAR_017909 - P04637:p.Ile254Thr chr17 7518234 7518237 VAR_005989 - P04637:p.Leu257Pro chr17 7518231 7518234 VAR_005990 - P04637:p.Glu258Asp chr17 7518231 7518234 VAR_005991 - P04637:p.Glu258Lys chr17 7518228 7518231 VAR_033039 - P04637:p.Asp259Tyr chr17 7517861 7517864 VAR_036507 - P04637:p.Arg267Trp chr17 7517849 7517852 VAR_036508 - P04637:p.Glu271Lys chr17 7517846 7517849 VAR_005992 - P04637:p.Val272Leu chr17 7517843 7517846 VAR_005993 - P04637:p.Arg273Cys chr17 7517843 7517846 VAR_005994 - P04637:p.Arg273Gly chr17 7517843 7517846 VAR_005995 - P04637:p.Arg273His chr17 7517843 7517846 VAR_036509 - P04637:p.Arg273Leu chr17 7517840 7517843 VAR_005997 - P04637:p.Val274Phe chr17 7517837 7517840 VAR_005999 - P04637:p.Cys275Trp chr17 7517837 7517840 VAR_005998 - P04637:p.Cys275Tyr chr17 7517831 7517834 VAR_006000 - P04637:p.Cys277Gly chr17 7517828 7517831 VAR_006001 - P04637:p.Pro278Ala chr17 7517828 7517831 VAR_006002 - P04637:p.Pro278His chr17 7517828 7517831 VAR_006003 - P04637:p.Pro278Leu chr17 7517828 7517831 VAR_006004 - P04637:p.Pro278Ser chr17 7517828 7517831 VAR_006005 - P04637:p.Pro278Thr chr17 7517825 7517828 VAR_006006 - P04637:p.Gly279Glu chr17 7517822 7517825 VAR_006008 - P04637:p.Arg280Ile chr17 7517822 7517825 VAR_006007 - P04637:p.Arg280Lys chr17 7517822 7517825 VAR_006009 - P04637:p.Arg280Thr chr17 7517819 7517822 VAR_006010 - P04637:p.Asp281Ala chr17 7517819 7517822 VAR_006011 - P04637:p.Asp281Glu chr17 7517819 7517822 VAR_006012 - P04637:p.Asp281Gly chr17 7517819 7517822 VAR_006013 - P04637:p.Asp281His chr17 7517819 7517822 VAR_006014 - P04637:p.Asp281Val chr17 7517816 7517819 VAR_006015 - P04637:p.Arg282Leu chr17 7517816 7517819 VAR_006016 - P04637:p.Arg282Trp chr17 7517813 7517816 VAR_006017 - P04637:p.Arg283Cys chr17 7517813 7517816 VAR_006018 - P04637:p.Arg283Gly chr17 7517813 7517816 VAR_006019 - P04637:p.Arg283His chr17 7517813 7517816 VAR_006020 - P04637:p.Arg283Pro chr17 7517810 7517813 VAR_006021 - P04637:p.Thr284Ala chr17 7517810 7517813 VAR_006022 - P04637:p.Thr284Pro chr17 7517807 7517810 VAR_006023 - P04637:p.Glu285Lys chr17 7517807 7517810 VAR_006024 - P04637:p.Glu285Gln chr17 7517807 7517810 VAR_006025 - P04637:p.Glu285Val chr17 7517804 7517807 VAR_006026 - P04637:p.Glu286Ala chr17 7517804 7517807 VAR_006027 - P04637:p.Glu286Asp chr17 7517804 7517807 VAR_006028 - P04637:p.Glu286Gly chr17 7517804 7517807 VAR_006029 - P04637:p.Glu286Lys chr17 7517804 7517807 VAR_006030 - P04637:p.Glu286Gln chr17 7517786 7517789 VAR_015819 - P04637:p.Lys292Ile chr17 7517774 7517777 VAR_006031 - P04637:p.His296Pro chr17 7517762 7517765 VAR_006032 - P04637:p.Pro300Arg chr17 7517759 7517762 VAR_006033 - P04637:p.Pro301Leu chr17 7517756 7517759 VAR_006034 - P04637:p.Gly302Glu chr17 7517756 7517759 VAR_006035 - P04637:p.Gly302Val chr17 7517744 7517747 VAR_006036 - P04637:p.Arg306Gln chr17 7517643 7517646 VAR_006038 - P04637:p.Pro309Ser chr17 7517595 7517598 VAR_006039 - P04637:p.Gly325Val chr17 7514749 7514752 VAR_006040 - P04637:p.Gly334Val chr17 7514740 7514743 VAR_006041 - P04637:p.Arg337Cys chr17 7514740 7514743 VAR_035016 - P04637:p.Arg337His chr17 7514734 7514737 VAR_022316 - P04637:p.Glu339Lys chr17 7514653 7514656 VAR_022317 - P04637:p.Ser366Ala chr10 97392789 97392792 VAR_038482 - P54886:p.Arg84Gln chr3 191008822 191008825 VAR_035126 + Q9H3D4:p.Ser129Leu chr3 191008987 191008990 VAR_020866 + Q9H3D4:p.Ser184Leu chr3 191008996 191008999 VAR_020867 + Q9H3D4:p.Ala187Pro chr3 191009014 191009017 VAR_032736 + Q9H3D4:p.Thr193Thr chr3 191064752 191064755 VAR_020868 + Q9H3D4:p.Gln204Leu chr3 191064836 191064839 VAR_032737 + Q9H3D4:p.Lys232Glu chr3 191064839 191064842 VAR_020869 + Q9H3D4:p.Lys233Glu chr3 191064869 191064872 VAR_020870 + Q9H3D4:p.Arg243Gln chr3 191064869 191064872 VAR_020871 + Q9H3D4:p.Arg243Trp chr3 191067201 191067204 VAR_032738 + Q9H3D4:p.Arg266Gln chr3 191067240 191067243 VAR_020872 + Q9H3D4:p.Pro279His chr3 191068362 191068365 VAR_032739 + Q9H3D4:p.Cys308Tyr chr3 191068371 191068374 VAR_032740 + Q9H3D4:p.Ser311Asn chr3 191068392 191068395 VAR_032741 + Q9H3D4:p.Arg318Cys chr3 191068392 191068395 VAR_020873 + Q9H3D4:p.Arg318His chr3 191068392 191068395 VAR_032742 + Q9H3D4:p.Arg318Gln chr3 191068395 191068398 VAR_020874 + Q9H3D4:p.Arg319Cys chr3 191068395 191068398 VAR_032743 + Q9H3D4:p.Arg319His chr3 191068395 191068398 VAR_032744 + Q9H3D4:p.Arg319Ser chr3 191069086 191069089 VAR_020875 + Q9H3D4:p.Arg337Gln chr3 191069104 191069107 VAR_020876 + Q9H3D4:p.Arg343Gln chr3 191069104 191069107 VAR_032745 + Q9H3D4:p.Arg343Trp chr3 191069110 191069113 VAR_020877 + Q9H3D4:p.Cys345Arg chr3 191069116 191069119 VAR_032746 + Q9H3D4:p.Cys347Ser chr3 191069119 191069122 VAR_032747 + Q9H3D4:p.Pro348Ser chr3 191069128 191069131 VAR_020878 + Q9H3D4:p.Asp351Gly chr3 191069128 191069131 VAR_032748 + Q9H3D4:p.Asp351His chr3 191069131 191069134 VAR_035127 + Q9H3D4:p.Arg352Gly chr3 191089967 191089970 VAR_035128 + Q9H3D4:p.Ile549Thr chr3 191091283 191091286 VAR_020879 + Q9H3D4:p.Leu553Phe chr3 191091304 191091307 VAR_020880 + Q9H3D4:p.Ser560Ala chr3 191091307 191091310 VAR_020881 + Q9H3D4:p.Cys561Gly chr3 191091364 191091367 VAR_035129 + Q9H3D4:p.Ser580Pro chr3 191094756 191094759 VAR_035130 + Q9H3D4:p.Asp603His chr5 67623901 67623904 VAR_010023 + P27986:p.Met326Ile chr5 67624992 67624995 VAR_010024 + P27986:p.Arg409Gln chr5 67625343 67625346 VAR_029562 + P27986:p.Glu451Lys chr12 119226529 119226532 VAR_011911 - P04054:p.Asp16Ala chr12 119225511 119225514 VAR_011913 - P04054:p.Asn89Lys chr12 119225511 119225514 VAR_011912 - P04054:p.Asn89Thr chr1 183594928 183594931 VAR_029276 + P47712:p.Gly103Arg chr1 183633662 183633665 VAR_018760 + P47712:p.Val224Ile chr1 183651504 183651507 VAR_035826 + P47712:p.His442Gln chr15 39914246 39914249 VAR_027046 + O95712:p.Ala28Gly chr15 39921388 39921391 VAR_027047 + O95712:p.Arg422Cys chr15 39922052 39922055 VAR_027048 + O95712:p.Met470Ile chr15 39924491 39924494 VAR_034365 + O95712:p.Arg622His chr19 53294877 53294880 VAR_018420 - Q9UP65:p.Ala38Pro chr19 53250100 53250103 VAR_018767 - Q9UP65:p.Thr360Pro chr15 40150769 40150772 VAR_027049 - Q86XP0:p.Arg573Trp chr15 40150302 40150305 VAR_027050 - Q86XP0:p.Ala649Gly chr15 40148420 40148423 VAR_027051 - Q86XP0:p.Arg747Gly chr22 29860546 29860549 VAR_024556 - Q9NZ20:p.Glu116Gln chr22 29860423 29860426 VAR_020288 - Q9NZ20:p.Leu157Val chr22 29858349 29858352 VAR_024557 - Q9NZ20:p.Ser322Arg chr22 29857512 29857515 VAR_034366 - Q9NZ20:p.Arg378Gln chr22 36889759 36889762 VAR_018961 - O60733:p.Val58Ile chr22 36889744 36889747 VAR_018962 - O60733:p.Arg63Gly chr22 36863671 36863674 VAR_018964 - O60733:p.Asp183Asn chr22 36853484 36853487 VAR_029371 - O60733:p.Val310Glu chr22 36853385 36853388 VAR_018965 - O60733:p.Ala343Thr chr22 36841372 36841375 VAR_029372 - O60733:p.Lys545Thr chr22 36836171 36836174 VAR_029373 - O60733:p.Arg632Trp chr22 36834122 36834125 VAR_029374 - O60733:p.691del chr22 36832766 36832769 VAR_037903 - O60733:p.Ser774Thr chr1 20050306 20050309 VAR_018953 - P14555:p.His19Tyr chr1 20187357 20187360 VAR_012741 - Q9UNK4:p.Ser80Gly chr11 73276114 73276117 VAR_026415 + Q9BRP4:p.Ala53Val chr11 73288995 73288998 VAR_032082 + Q9BRP4:p.Cys139Ser chr11 73298183 73298186 VAR_026416 + Q9BRP4:p.Ala209Gly chr14 22860533 22860536 VAR_018179 + Q86U42:p.Ala6Ala chr22 41602711 41602714 VAR_013711 - Q9UNF0:p.Met294Ile chr22 41599607 41599610 VAR_013712 - Q9UNF0:p.Val324Phe chr1 17331439 17331442 VAR_020462 + Q9ULW8:p.Ile52Val chr1 17338621 17338624 VAR_020463 + Q9ULW8:p.Val171Met chr1 17348646 17348649 VAR_035502 + Q9ULW8:p.Gly509Arg chr1 17402941 17402944 VAR_027401 + Q9UM07:p.Asp89Asn chr1 17405773 17405776 VAR_027402 + Q9UM07:p.Pro102Thr chr1 17408009 17408012 VAR_027403 + Q9UM07:p.Arg131Thr chr1 17409919 17409922 VAR_027404 + Q9UM07:p.Met164Thr chr1 17413913 17413916 VAR_020642 + Q9UM07:p.Ser275Phe chr9 135682099 135682102 VAR_034355 + P09466:p.Gln126Lys chr10 13380239 13380242 VAR_017482 - O14832:p.Pro29Ser chr10 13376598 13376601 VAR_018619 - O14832:p.Asn83Tyr chr10 13370524 13370527 VAR_017483 - O14832:p.Pro173Ser chr10 13370518 13370521 VAR_018631 - O14832:p.His175Arg chr10 13370515 13370518 VAR_017484 - O14832:p.Gln176Lys chr10 13370512 13370515 VAR_017485 - O14832:p.Asp177Gly chr10 13370467 13370470 VAR_012980 - O14832:p.Ala192Ala chr10 13370464 13370467 VAR_017486 - O14832:p.Trp193Arg chr10 13370452 13370455 VAR_017487 - O14832:p.Glu197Gln chr10 13370446 13370449 VAR_017488 - O14832:p.Ile199Phe chr10 13370431 13370434 VAR_017489 - O14832:p.Gly204Ser chr10 13370383 13370386 VAR_017490 - O14832:p.His220Tyr chr10 13365788 13365791 VAR_017491 - O14832:p.Arg245Gln chr10 13365752 13365755 VAR_017492 - O14832:p.Phe257Ser chr10 13365716 13365719 VAR_005525 - O14832:p.Asn269His chr10 13365698 13365701 VAR_017493 - O14832:p.Arg275Gln chr10 13365698 13365701 VAR_005526 - O14832:p.Arg275Trp chr7 100365151 100365154 VAR_007099 + P05121:p.Ala15Thr chr7 100365157 100365160 VAR_011750 + P05121:p.Val17Ile chr7 100365181 100365184 VAR_013086 + P05121:p.His25Pro chr7 100368709 100368712 VAR_013087 + P05121:p.Arg209His chr7 100370472 100370475 VAR_013088 + P05121:p.Thr255Asn chr18 59715373 59715376 VAR_011743 + P05120:p.Asn120Asp chr18 59720623 59720626 VAR_014173 + P05120:p.Arg229His chr18 59721480 59721483 VAR_011744 + P05120:p.Asn404Lys chr18 59721507 59721510 VAR_011745 + P05120:p.Ser413Cys chrX 110191491 110191494 VAR_023825 + O75914:p.Arg67Cys chrX 110243773 110243776 VAR_023826 + O75914:p.Ala380Glu chr15 38344284 38344287 VAR_035631 + Q9NQU5:p.Arg3His chr15 38345355 38345358 VAR_019993 + Q9NQU5:p.Met76Val chr15 38345679 38345682 VAR_040972 + Q9NQU5:p.Glu184Lys chr15 38345742 38345745 VAR_040973 + Q9NQU5:p.Gly205Glu chr15 38345751 38345754 VAR_040974 + Q9NQU5:p.Pro208Thr chr15 38345757 38345760 VAR_040975 + Q9NQU5:p.Thr210Met chr15 38345772 38345775 VAR_019994 + Q9NQU5:p.His215Arg chr15 38351866 38351869 VAR_019995 + Q9NQU5:p.Pro337Leu chr15 38351983 38351986 VAR_040976 + Q9NQU5:p.Ala376Val chr15 38352887 38352890 VAR_040977 + Q9NQU5:p.Leu514Arg chr20 9509427 9509430 VAR_040978 - Q9P286:p.Gly118Asp chr20 9509220 9509223 VAR_040979 - Q9P286:p.Pro187Ala chr20 9508845 9508848 VAR_040980 - Q9P286:p.Ser312Pro chr20 9495016 9495019 VAR_040981 - Q9P286:p.Arg335Pro chr20 9491620 9491623 VAR_021865 - Q9P286:p.Ser511Asn chr20 9491539 9491542 VAR_040982 - Q9P286:p.Thr538Asn chr20 9486332 9486335 VAR_040983 - Q9P286:p.Ala555Ser chr20 9473072 9473075 VAR_040984 - Q9P286:p.Val604Ile chr20 9468156 9468159 VAR_040985 - Q9P286:p.Gly704Ser chr16 23554440 23554443 VAR_032959 - Q86YC2:p.Ile309Val chr10 71959782 71959785 VAR_032076 + Q9ULE6:p.Ser141Leu chr10 71977106 71977109 VAR_032077 + Q9ULE6:p.Arg721Cys chr4 169808054 169808057 VAR_034940 + Q8WX93:p.Met224Ile chr12 55013049 55013052 VAR_031162 - Q504Q3:p.Ser32Asn chr12 54997665 54997668 VAR_036359 - Q504Q3:p.Ala1201Val chr20 3818077 3818080 VAR_015152 + Q9BZ23:p.Leu111Gln chr20 3818122 3818125 VAR_015153 + Q9BZ23:p.Gly126Ala chr20 3836598 3836601 VAR_015154 + Q9BZ23:p.Gly219Val chr20 3836643 3836646 VAR_015155 + Q9BZ23:p.Thr234Ala chr20 3836733 3836736 VAR_015156 + Q9BZ23:p.Arg264Trp chr20 3836775 3836778 VAR_015157 + Q9BZ23:p.Arg278Cys chr20 3836787 3836790 VAR_015158 + Q9BZ23:p.Leu282Val chr20 3836799 3836802 VAR_015159 + Q9BZ23:p.Arg286Cys chr20 3836922 3836925 VAR_015160 + Q9BZ23:p.Thr327Ile chr20 3839292 3839295 VAR_015161 + Q9BZ23:p.Ser351Pro chr20 3839304 3839307 VAR_015162 + Q9BZ23:p.Asn355Ser chr20 3839451 3839454 VAR_015163 + Q9BZ23:p.Asn404Ile chr20 3841105 3841108 VAR_015164 + Q9BZ23:p.Leu413Pro chr20 3841279 3841281 VAR_015165 + Q9BZ23:p.Ser471Asn chr20 3845573 3845574 VAR_015165 + Q9BZ23:p.Ser471Asn chr20 3845649 3845652 VAR_015166 + Q9BZ23:p.Ile497Thr chr20 3845658 3845661 VAR_015167 + Q9BZ23:p.Asn500Ile chr20 3847341 3847344 VAR_015168 + Q9BZ23:p.Gly521Arg chr20 3847362 3847365 VAR_015169 + Q9BZ23:p.Thr528Met chr1 2478016 2478019 VAR_035470 - Q9NVE7:p.Glu475Lys chr1 2476574 2476577 VAR_027409 - Q9NVE7:p.Ala547Val chr1 2473518 2473521 VAR_015170 - Q9NVE7:p.Gln684Arg chr22 48918036 48918039 VAR_036575 + Q96RD6:p.Ser137Phe chr11 123988186 123988189 VAR_034367 + Q96QZ0:p.Gly95Arg chr11 123994483 123994486 VAR_034368 + Q96QZ0:p.Thr208Ala chr10 30669229 30669232 VAR_027601 - Q9NVV4:p.Arg162Cys chr10 30665854 30665857 VAR_027602 - Q9NVV4:p.Tyr221His chr10 30645107 30645110 VAR_027603 - Q9NVV4:p.Cys419Arg chr10 30642654 30642657 VAR_027604 - Q9NVV4:p.Ser546Asn chr4 108935740 108935743 VAR_014065 - O43252:p.Leu270Phe chr4 108893122 108893125 VAR_014064 - O43252:p.Ser587Leu chr10 89458932 89458935 VAR_029136 + O95340:p.Glu10Lys chr10 89465555 89465558 VAR_029137 + O95340:p.Met281Leu chr10 89477025 89477028 VAR_022077 + O95340:p.Val291Met chr10 89493195 89493198 VAR_029138 + O95340:p.Arg432Lys chr15 63338926 63338929 VAR_027864 - Q8N5Y8:p.Ser280Pro chr5 76064301 76064304 VAR_014167 + P25116:p.Ser166Gly chr5 76150823 76150826 VAR_012846 + P55085:p.Ser21Phe chr5 76164995 76164998 VAR_012847 + P55085:p.Arg270Gln chr5 76165058 76165061 VAR_012848 + P55085:p.Thr291Ala chr2 205737907 205737910 VAR_015664 + Q8TEW8:p.Leu165Pro chr2 205794724 205794727 VAR_015665 + Q8TEW8:p.Arg192Lys chr2 205811896 205811899 VAR_015666 + Q8TEW8:p.Gln295Lys chr5 75954766 75954769 VAR_012849 - O00254:p.Leu15Ser chr5 75949756 75949759 VAR_012850 - O00254:p.Met177Val chr5 75949537 75949540 VAR_012851 - O00254:p.Asn250Asp chr19 16861631 16861634 VAR_028300 + Q96RI0:p.Ala120Thr chr19 16861916 16861919 VAR_028301 + Q96RI0:p.Arg215Gln chr19 16862159 16862162 VAR_012852 + Q96RI0:p.Phe296Val chr19 16862201 16862204 VAR_012853 + Q96RI0:p.Pro310Leu chr10 34845994 34845997 VAR_015663 - Q8TEW0:p.Glu107Asp chr1 7957186 7957189 VAR_020492 + Q99497:p.Met26Ile chr1 7959748 7959751 VAR_020493 + Q99497:p.Glu64Asp chr1 7965258 7965261 VAR_020494 + Q99497:p.Arg98Gln chr1 7965276 7965279 VAR_020495 + Q99497:p.Ala104Thr chr1 7979254 7979257 VAR_020496 + Q99497:p.Asp149Ala chr1 7979257 7979260 VAR_020497 + Q99497:p.Gly150Ser chr1 7979296 7979299 VAR_034801 + Q99497:p.Glu163Lys chr1 7979305 7979308 VAR_020498 + Q99497:p.Leu166Pro chr1 7979320 7979323 VAR_020499 + Q99497:p.Ala171Ser chr3 185067165 185067168 VAR_029801 - Q9H300:p.Ala137Gly chr3 185041101 185041104 VAR_021578 - Q9H300:p.Val262Leu chr14 19889065 19889068 VAR_019174 + Q9UGN5:p.Ser161Asn chr14 19889086 19889089 VAR_019175 + Q9UGN5:p.Asn168Ser chr14 19892146 19892149 VAR_019176 + Q9UGN5:p.Asp235Gly chr14 19892857 19892860 VAR_019177 + Q9UGN5:p.Ile285Val chr14 19892890 19892893 VAR_019178 + Q9UGN5:p.Arg296Gln chr5 50165590 50165593 VAR_035853 + Q8N3A8:p.Ser777Ala chr3 157896484 157896487 VAR_027155 + Q7Z3E1:p.Arg406Ser chr22 42814749 42814752 VAR_034369 + Q9HBI1:p.Pro52Arg chr22 42814767 42814770 VAR_017242 + Q9HBI1:p.Val58Ala chrX 150487661 150487664 VAR_034819 + Q8IV76:p.Gln213Glu chr2 241802404 241802407 VAR_040986 - Q96RG2:p.Glu11Lys chr2 241797483 241797486 VAR_028293 - Q96RG2:p.Val250Ile chr2 241795303 241795306 VAR_040987 - Q96RG2:p.Gln426Arg chr2 241786783 241786786 VAR_040988 - Q96RG2:p.Thr512Ala chr2 241786777 241786780 VAR_028294 - Q96RG2:p.Leu514Ser chr2 241786267 241786270 VAR_040989 - Q96RG2:p.Pro684Arg chr2 241786237 241786240 VAR_028295 - Q96RG2:p.Val694Met chr2 241786144 241786147 VAR_028296 - Q96RG2:p.Gly725Asp chr2 241785931 241785934 VAR_040990 - Q96RG2:p.Glu796Lys chr2 241785787 241785790 VAR_040991 - Q96RG2:p.Pro844Gln chr2 241783446 241783449 VAR_040992 - Q96RG2:p.Arg937His chr2 241767608 241767611 VAR_028297 - Q96RG2:p.Val1210Met chr2 241766773 241766776 VAR_028298 - Q96RG2:p.Phe1266Cys chr2 241766039 241766042 VAR_040993 - Q96RG2:p.Pro1301Ser chr12 78586366 78586369 VAR_022465 - Q96IZ0:p.Pro42Leu chr12 78586258 78586261 VAR_022466 - Q96IZ0:p.Pro78Arg chr12 78586081 78586084 VAR_022467 - Q96IZ0:p.Gly137Ala chr12 78517365 78517368 VAR_022468 - Q96IZ0:p.Glu202Ala chr20 21635203 21635206 VAR_003787 + P15863:p.Gln45His chr10 102499563 102499569 VAR_012442 + Q02962:p.39_40del chr10 102500450 102500453 VAR_003788 + Q02962:p.Thr75Thr chr10 102500453 102500456 VAR_003789 + Q02962:p.Gly76Ser chr10 102574405 102574408 VAR_012443 + Q02962:p.Ala334Val chr2 222987387 222987390 VAR_003790 - P23760:p.Phe45Leu chr2 222987381 222987384 VAR_003791 - P23760:p.Asn47His chr2 222987381 222987384 VAR_003792 - P23760:p.Asn47Lys chr2 222987378 222987381 VAR_017533 - P23760:p.Gly48Arg chr2 222987372 222987375 VAR_003793 - P23760:p.Pro50Leu chr2 222987354 222987357 VAR_003794 - P23760:p.Arg56Leu chr2 222987345 222987348 VAR_003795 - P23760:p.Ile59Phe chr2 222987345 222987348 VAR_003796 - P23760:p.Ile59Asn chr2 222987342 222987345 VAR_003797 - P23760:p.Val60Met chr2 222987336 222987339 VAR_003798 - P23760:p.Met62Val chr2 222987321 222987336 VAR_003799 - P23760:p.63_67del chr2 222987303 222987306 VAR_013640 - P23760:p.Ser73Leu chr2 222987288 222987291 VAR_017534 - P23760:p.Val78Met chr2 222987279 222987282 VAR_003800 - P23760:p.Gly81Ala chr2 222987270 222987273 VAR_003801 - P23760:p.Ser84Phe chr2 222987267 222987270 VAR_003802 - P23760:p.Lys85Glu chr2 222987252 222987255 VAR_017535 - P23760:p.Tyr90His chr2 222987225 222987228 VAR_003803 - P23760:p.Gly99Asp chr2 222922379 222922382 VAR_003804 - P23760:p.Phe238Ser chr2 222911608 222911611 VAR_003805 - P23760:p.Val265Phe chr2 222911605 222911608 VAR_017536 - P23760:p.Trp266Cys chr2 222911593 222911596 VAR_013619 - P23760:p.Arg270Cys chr2 222911590 222911593 VAR_017537 - P23760:p.Arg271Cys chr2 222911590 222911593 VAR_003806 - P23760:p.Arg271Gly chr2 222911590 222911593 VAR_017538 - P23760:p.Arg271His chr2 222911584 222911587 VAR_017539 - P23760:p.Arg273Lys chr2 222911458 222911461 VAR_003807 - P23760:p.Thr315Lys chr2 222910363 222910366 VAR_013641 - P23760:p.Gln391His chr9 36872046 36872049 VAR_034370 - Q02548:p.Ala322Thr chr11 31780917 31780920 VAR_003808 - P26367:p.Asn17Ser chr11 31780914 31780917 VAR_003809 - P26367:p.Gly18Trp chr11 31780890 31780905 VAR_008693 - P26367:p.22_26del chr11 31780890 31780893 VAR_003810 - P26367:p.Arg26Gly chr11 31780881 31780884 VAR_008694 - P26367:p.Ile29Ser chr11 31780881 31780884 VAR_003811 - P26367:p.Ile29Val chr11 31780869 31780872 VAR_008695 - P26367:p.Ala33Pro chr11 31780851 31780860 VAR_008696 - P26367:p.37_39del chr11 31780842 31780845 VAR_008697 - P26367:p.Ile42Ser chr11 31780839 31780842 VAR_008698 - P26367:p.Ser43Pro chr11 31780836 31780839 VAR_003812 - P26367:p.Arg44Gln chr11 31779882 31779885 VAR_008700 - P26367:p.Val53Asp chr11 31779882 31779885 VAR_008699 - P26367:p.Val53Leu chr11 31779852 31779855 VAR_008701 - P26367:p.Thr63Pro chr11 31779849 31779852 VAR_008702 - P26367:p.Gly64Val chr11 31779837 31779840 VAR_017540 - P26367:p.Pro68Ser chr11 31779804 31779807 VAR_008703 - P26367:p.Ala79Glu chr11 31779780 31779783 VAR_003813 - P26367:p.Ile87Arg chr11 31779687 31779690 VAR_015065 - P26367:p.Pro118Arg chr11 31779684 31779687 VAR_008704 - P26367:p.Ser119Arg chr11 31778962 31778965 VAR_017541 - P26367:p.Arg125Cys chr11 31778959 31778962 VAR_008705 - P26367:p.Val126Asp chr11 31778953 31778956 VAR_003814 - P26367:p.Arg128Cys chr11 31772901 31772904 VAR_003815 - P26367:p.Gln178His chr11 31772811 31772814 VAR_008706 - P26367:p.Arg208Gln chr11 31772811 31772814 VAR_003816 - P26367:p.Arg208Trp chr11 31771917 31771920 VAR_017542 - P26367:p.Phe258Ser chr11 31771815 31771818 VAR_017543 - P26367:p.Ser292Ile chr11 31768957 31768960 VAR_008707 - P26367:p.Ser353Ala chr11 31768927 31768930 VAR_017544 - P26367:p.Ser363Pro chr11 31768891 31768894 VAR_015066 - P26367:p.Pro375Gln chr11 31768882 31768885 VAR_017545 - P26367:p.Gln378Arg chr11 31768873 31768876 VAR_017546 - P26367:p.Met381Val chr11 31768843 31768846 VAR_017547 - P26367:p.Thr391Ala chr11 31768060 31768063 VAR_008708 - P26367:p.Gln422Arg chr14 36201998 36202001 VAR_015698 + P55771:p.Gly51Ser chr14 36205503 36205506 VAR_034371 + P55771:p.Ala240Pro chr7 154176054 154176057 VAR_034627 - Q6ZW49:p.Met979Val chr1 151732151 151732154 VAR_035265 - Q96AQ6:p.Gly357Asp chr19 19536817 19536820 VAR_036439 - Q9BYU1:p.Thr283Met chrX 90896771 90896774 VAR_036109 + Q9BZA7:p.Asp42Gly chrY 5011728 5011731 VAR_026020 + Q9BZA8:p.Val917Phe chrY 5012013 5012016 VAR_026021 + Q9BZA8:p.Asn1012Lys chr3 20136098 20136101 VAR_034372 + Q92831:p.Asn386Ser chr16 54119964 54119967 VAR_027058 + Q7L5N7:p.Met163Ile chr3 137451963 137451966 VAR_009080 + P05166:p.Leu17Met chr3 137452044 137452047 VAR_000271 + P05166:p.Arg44Pro chr3 137457410 137457413 VAR_023847 + P05166:p.Arg67Ser chr3 137458106 137458109 VAR_000272 + P05166:p.Ser106Arg chr3 137458109 137458112 VAR_023848 + P05166:p.Val107Met chr3 137458124 137458127 VAR_023849 + P05166:p.Gly112Asp chr3 137462036 137462039 VAR_000273 + P05166:p.Gly131Arg chr3 137462063 137462066 VAR_009081 + P05166:p.Lys140Lys chr3 137463518 137463521 VAR_023850 + P05166:p.Ala153Pro chr3 137463554 137463557 VAR_023851 + P05166:p.Arg165Gln chr3 137463554 137463557 VAR_000274 + P05166:p.Arg165Trp chr3 137463563 137463566 VAR_000275 + P05166:p.Glu168Lys chr3 137485394 137485397 VAR_023852 + P05166:p.Gly188Arg chr3 137485424 137485427 VAR_000276 + P05166:p.Gly198Asp chr3 137485445 137485448 VAR_009082 + P05166:p.Val205Asp chr3 137495322 137495325 VAR_009083 + P05166:p.Pro228Leu chr3 137495376 137495379 VAR_023853 + P05166:p.Gly246Val chr3 137518534 137518537 VAR_023854 + P05166:p.341del chr3 137528717 137528720 VAR_000277 + P05166:p.408del chr3 137528723 137528726 VAR_000278 + P05166:p.Arg410Trp chr3 137528777 137528780 VAR_009084 + P05166:p.Thr428Ile chr3 137528783 137528786 VAR_023855 + P05166:p.Ile430Leu chr3 137529176 137529179 VAR_023856 + P05166:p.Tyr435Cys chr3 137529188 137529191 VAR_023857 + P05166:p.Tyr439Cys chr3 137529197 137529200 VAR_009085 + P05166:p.Met442Thr chr3 137530300 137530303 VAR_023858 + P05166:p.Ala468Thr chr3 137530387 137530390 VAR_000279 + P05166:p.Ala497Val chr3 137531479 137531482 VAR_000280 + P05166:p.Arg512Cys chr3 137531500 137531503 VAR_000281 + P05166:p.Leu519Pro chr3 137531551 137531554 VAR_009086 + P05166:p.Asn536Asp chr5 141316445 141316448 VAR_020368 - Q9NPG4:p.His385Asn chr5 141315680 141315683 VAR_020369 - Q9NPG4:p.Ser640Asn chr10 56093971 56093974 VAR_028289 - Q96QU1:p.Ser19Ala chr10 55798957 55798960 VAR_024035 - Q96QU1:p.Arg134Gly chr10 55747126 55747129 VAR_024036 - Q96QU1:p.Gly262Asp chr10 55625613 55625616 VAR_028290 - Q96QU1:p.Gly380Ser chr10 55625448 55625451 VAR_028291 - Q96QU1:p.Asp435Ala chr10 55425495 55425498 VAR_028292 - Q96QU1:p.Arg929Gln chr10 55261256 55261259 VAR_024037 - Q96QU1:p.Gln1342Lys chr10 55251890 55251893 VAR_024038 - Q96QU1:p.1867del chr11 6607851 6607854 VAR_036110 - Q96JQ0:p.Arg1583Trp chr13 60884663 60884666 VAR_036111 - Q8N6Y1:p.Val496Met chr10 85946245 85946248 VAR_038744 + Q96JP9:p.His53Gln chr10 85951650 85951653 VAR_038745 + Q96JP9:p.Ala212Thr chr10 85952802 85952805 VAR_038746 + Q96JP9:p.Ala243Val chr10 85961954 85961957 VAR_038747 + Q96JP9:p.Pro532Ala chr5 175950244 175950247 VAR_021548 + Q9BYE9:p.Leu1164Met chr5 140147403 140147406 VAR_021872 + Q9Y5I3:p.Asn449His chr5 140148252 140148255 VAR_021873 + Q9Y5I3:p.Tyr732Cys chr5 140155048 140155051 VAR_024389 + Q9Y5H9:p.Val106Leu chr5 140161917 140161920 VAR_021874 + Q9Y5H8:p.Ile318Val chr5 140163240 140163243 VAR_021875 + Q9Y5H8:p.Cys759Tyr chr5 140167505 140167508 VAR_024390 + Q9UN74:p.Pro184Ser chr5 140201321 140201324 VAR_021876 + Q9Y5H6:p.Ser78Asn chr5 140202296 140202299 VAR_021877 + Q9Y5H6:p.Asn403Thr chr5 140454939 140454942 VAR_020365 + Q9Y5E7:p.Val128Ile chr5 140456577 140456580 VAR_033701 + Q9Y5E7:p.Leu674Pro chr5 140456835 140456838 VAR_033702 + Q9Y5E7:p.Gly760Asp chr5 140460537 140460540 VAR_024391 + Q9Y5E6:p.Lys41Arg chr5 140461035 140461038 VAR_033703 + Q9Y5E6:p.Glu207Lys chr5 140461656 140461659 VAR_020366 + Q9Y5E6:p.Arg414Ser chr5 140483024 140483027 VAR_021878 + Q9Y5E5:p.Ala421Thr chr5 140495665 140495668 VAR_033704 + Q9Y5E4:p.Ile156Thr chr5 140510712 140510715 VAR_021879 + Q9Y5E3:p.Val231Ile chr5 140510715 140510718 VAR_033705 + Q9Y5E3:p.Leu232Phe chr5 140511927 140511930 VAR_033706 + Q9Y5E3:p.His636Gln chr5 140512260 140512263 VAR_033707 + Q9Y5E3:p.Tyr747His chr5 140532957 140532960 VAR_033708 + Q9Y5E2:p.Glu120Lys chr5 140533158 140533161 VAR_033709 + Q9Y5E2:p.Glu187Lys chr5 140533764 140533767 VAR_020367 + Q9Y5E2:p.Val389Leu chr5 140538393 140538396 VAR_031619 + Q9UN66:p.Lys199Asn chr5 140538528 140538531 VAR_031620 + Q9UN66:p.Glu244Gln chr5 140538711 140538714 VAR_021880 + Q9UN66:p.Lys305Glu chr5 140538762 140538765 VAR_024392 + Q9UN66:p.Ala322Val chr5 140540097 140540100 VAR_024393 + Q9UN66:p.Phe767Leu chr5 140559540 140559543 VAR_021881 + Q9Y5F2:p.Gln4Arg chr5 140569920 140569923 VAR_033710 + Q9Y5F1:p.Thr420Ile chr5 140606749 140606752 VAR_019633 + Q9Y5E8:p.Ser474Arg chr5 140606809 140606812 VAR_019634 + Q9Y5E8:p.Arg494Gln chr5 140607484 140607487 VAR_036106 + Q9Y5E8:p.Ala719Val chr5 140607601 140607604 VAR_036107 + Q9Y5E8:p.Gly758Val chr5 140543890 140543893 VAR_026478 + Q9NRJ7:p.Arg525Gln chr5 140690888 140690891 VAR_021882 + Q9Y5H4:p.Val152Ile chr5 140781287 140781290 VAR_033711 + Q9Y5H2:p.Phe104Leu chr5 140770002 140770005 VAR_021883 + Q9Y5F9:p.Pro684Ser chr5 140770116 140770119 VAR_021884 + Q9Y5F9:p.Ala722Thr chr5 140850698 140850701 VAR_024394 + Q9Y5F6:p.Asp570Gly chr13 52320551 52320554 VAR_017171 - O95206:p.Trp7Arg chr13 52320455 52320458 VAR_017172 - O95206:p.Glu39Ala chr13 52318343 52318346 VAR_017173 - O95206:p.Val743Ala chr13 52317040 52317043 VAR_036108 - O95206:p.Lys956Asn chr11 82555947 82555950 VAR_036878 + O94913:p.Gln651His chr11 82558379 82558382 VAR_036879 + O94913:p.His1119Tyr chr11 82570579 82570582 VAR_036880 + O94913:p.Glu1402Lys chr2 229922146 229922149 VAR_030361 - Q7Z2X4:p.Thr43Thr chr8 17840711 17840714 VAR_030165 + Q15154:p.Ala176Asp chr8 17861832 17861835 VAR_030167 + Q15154:p.Ala691Ser chr8 17865036 17865039 VAR_030168 + Q15154:p.Gly871Val chr8 17874280 17874283 VAR_030169 + Q15154:p.Arg1250His chr3 144025144 144025147 VAR_022448 - Q9UKZ9:p.Pro292Thr chr11 82241941 82241944 VAR_020464 - P42785:p.Glu112Asp chr11 82213754 82213757 VAR_029329 - P42785:p.Thr444Ser chrX 48450090 48450093 VAR_028971 - Q9UHG2:p.Ala31Thr chr14 70525149 70525152 VAR_028305 + Q96RV3:p.Leu809Ile chr14 70525164 70525167 VAR_028306 + Q96RV3:p.Leu814Ile chr9 5547670 5547673 VAR_022449 + Q9BQ51:p.Phe229Ser chr14 51804300 51804303 VAR_033482 + Q13258:p.Arg7Cys chr14 51811252 51811255 VAR_033483 + Q13258:p.Glu301Ala chr3 168896174 168896177 VAR_023578 - Q9BUL8:p.Asp102Ala chr3 33880568 33880571 VAR_024381 + Q8WUM4:p.Ser730Leu chr2_random 120975 120978 VAR_031685 - Q15116:p.Ala215Val chr5 359874 359875 VAR_035459 + O75340:p.Gly123Cys chr5 364407 364409 VAR_035459 + O75340:p.Gly123Cys chr6 165802592 165802595 VAR_008797 - Q9Y233:p.Leu303Pro chr11 71979149 71979152 VAR_024170 - O00408:p.Thr224Ile chr1 66550277 66550280 VAR_034373 + Q07343:p.Ser703Cys chr19 18190782 18190785 VAR_034374 - Q08493:p.Arg344Gln chr5 149304123 149304126 VAR_025460 - P16499:p.Arg102His chr5 149304123 149304126 VAR_025461 - P16499:p.Arg102Ser chr5 149293754 149293757 VAR_025462 - P16499:p.Asn216Ser chr5 149290810 149290813 VAR_025463 - P16499:p.Val277Ala chr5 149281444 149281447 VAR_025464 - P16499:p.Pro293Leu chr5 149267100 149267103 VAR_006049 - P16499:p.Ser344Arg chr5 149259220 149259223 VAR_025465 - P16499:p.Val391Met chr5 149254959 149254962 VAR_025466 - P16499:p.Gln569Lys chr5 149254947 149254950 VAR_025467 - P16499:p.Ser573Pro chr5 149222899 149222902 VAR_025468 - P16499:p.Lys827Gln chr5 149220683 149220686 VAR_025469 - P16499:p.Gly850Val chr4 609634 609637 VAR_009283 + P35913:p.Arg74Cys chr4 618492 618495 VAR_009284 + P35913:p.Glu166Lys chr4 619680 619683 VAR_009285 + P35913:p.Tyr212His chr4 619701 619704 VAR_009286 + P35913:p.Tyr219His chr4 619728 619731 VAR_009287 + P35913:p.Leu228His chr4 619728 619731 VAR_009288 + P35913:p.Leu228Ile chr4 637700 637703 VAR_009289 + P35913:p.His258Asn chr4 644366 644369 VAR_009290 + P35913:p.Leu527Pro chr4 644390 644393 VAR_009291 + P35913:p.Ile535Asn chr4 645961 645964 VAR_009292 + P35913:p.Arg552Gln chr4 645976 645979 VAR_006050 + P35913:p.His557Tyr chr4 646300 646303 VAR_006051 + P35913:p.Gly576Asp chr4 647975 647978 VAR_006052 + P35913:p.Leu699Arg chr4 653890 653893 VAR_009293 + P35913:p.Leu854Arg chr10 95362940 95362943 VAR_025470 + P51160:p.Asp157Glu chr10 95412870 95412873 VAR_025471 + P51160:p.Lys822Asn chr10 95412906 95412909 VAR_025472 + P51160:p.Glu834Gly chr22 37952318 37952321 VAR_014578 - P01127:p.Ile88Val chr11 103319555 103319558 VAR_036418 - Q9GZP0:p.Asp202Tyr chr15 41849112 41849115 VAR_020027 + P30101:p.Lys415Arg chr2 10881499 10881502 VAR_022152 - Q15084:p.Lys214Arg chr10 97013618 97013621 VAR_022271 - O00151:p.Asn175Ser chr5 131634530 131634533 VAR_035205 + P50479:p.Arg118Gly chr5 131634937 131634940 VAR_035206 + P50479:p.Val184Ile chr5 131635162 131635165 VAR_035207 + P50479:p.Gly259Cys chr5 176843274 176843277 VAR_036193 - Q9NR12:p.Lys450Asn chr8 95004312 95004315 VAR_029882 + Q9P0J1:p.284del chr13 27392326 27392329 VAR_009309 + P52945:p.Cys18Arg chr13 27392449 27392452 VAR_009310 + P52945:p.Gln59Leu chr13 27392500 27392503 VAR_009311 + P52945:p.Asp76Asn chr13 27396574 27396577 VAR_009312 + P52945:p.Arg197His chr13 27396712 27396715 VAR_009313 + P52945:p.Pro243Pro chr5 32123082 32123085 VAR_031654 + O15018:p.Gln1258Lys chr5 32123130 32123133 VAR_031655 + O15018:p.Thr1274Ala chr5 32123337 32123340 VAR_031656 + O15018:p.Asp1343Glu chr5 32123583 32123586 VAR_031657 + O15018:p.Thr1425Met chr5 32124255 32124258 VAR_031658 + O15018:p.Ala1649Val chr5 32126049 32126052 VAR_031659 + O15018:p.Arg2247Gln chrX 152594840 152594843 VAR_035952 - Q76G19:p.Arg39Cys chr19 14445919 14445922 VAR_017190 - P34995:p.Ala71Thr chr19 14445463 14445466 VAR_029216 - P34995:p.Thr223Met chr19 14445364 14445367 VAR_029217 - P34995:p.His256Arg chr1 71224774 71224777 VAR_014694 - P43115:p.Met169Leu chr1 71152071 71152074 VAR_029218 - P43115:p.Asn366Ser chr1 71152044 71152047 VAR_014695 - P43115:p.Pro375Leu chr16 65658100 65658103 VAR_036226 + Q13951:p.Pro100Ala chr12 117036758 117036761 VAR_006048 + P30086:p.Ser9Asn chr17 59804696 59804699 VAR_013145 - P16284:p.Leu125Val chr2 216749182 216749185 VAR_021535 - Q9BY49:p.Glu149Lys chr2 216729524 216729527 VAR_021536 - Q9BY49:p.Phe297Leu chr17 4521497 4521500 VAR_027766 - Q8IZL8:p.Thr1126Ser chr17 17366353 17366356 VAR_032771 - Q9UBM1:p.Val58Ile chr17 17350282 17350285 VAR_016093 - Q9UBM1:p.Val175Met chr8 57516447 57516450 VAR_014584 - P01210:p.Gly247Asp chr10 102738863 102738866 VAR_023647 + Q96RR1:p.Arg303Trp chr10 102738899 102738902 VAR_023648 + Q96RR1:p.Trp315Leu chr10 102738911 102738914 VAR_023649 + Q96RR1:p.Lys319Glu chr10 102738911 102738914 VAR_023650 + Q96RR1:p.Lys319Thr chr10 102738956 102738959 VAR_023651 + Q96RR1:p.Arg334Gln chr10 102738959 102738962 VAR_023652 + Q96RR1:p.Pro335Leu chr10 102739016 102739019 VAR_023653 + Q96RR1:p.Arg354Pro chr10 102739031 102739034 VAR_023654 + Q96RR1:p.Ala359Thr chr10 102739055 102739058 VAR_023655 + Q96RR1:p.Ile367Thr chr10 102739058 102739061 VAR_023656 + Q96RR1:p.Val368Ile chr10 102739061 102739064 VAR_023657 + Q96RR1:p.Ser369Pro chr10 102739061 102739064 VAR_023658 + Q96RR1:p.Ser369Tyr chr10 102739076 102739079 VAR_023659 + Q96RR1:p.Arg374Gln chr10 102739097 102739100 VAR_023660 + Q96RR1:p.Leu381Pro chr10 102739515 102739518 VAR_039045 + Q96RR1:p.Thr457Ile chr10 102739566 102739569 VAR_023661 + Q96RR1:p.Trp474Cys chr10 102739569 102739572 VAR_023662 + Q96RR1:p.Ala475Pro chr10 102740219 102740222 VAR_043797 + Q96RR1:p.Tyr508Cys chr11 60728179 60728182 VAR_006481 + P00790:p.Leu28Phe chr11 60730611 60730614 VAR_006483 + P00790:p.Val92Leu chr11 60733896 60733899 VAR_006484 + P00790:p.Gln222Lys chr11 60735156 60735159 VAR_006485 + P00790:p.Ala265Thr chr11 60736639 60736642 VAR_006486 + P00790:p.Leu353Val chr11 60736708 60736711 VAR_006487 + P00790:p.Asp376Glu chr19 38646804 38646807 VAR_011614 - P12955:p.Arg184Gln chr19 38584605 38584608 VAR_004404 - P12955:p.Asp276Asn chr19 38584599 38584602 VAR_011615 - P12955:p.Gly278Asp chr19 38570674 38570677 VAR_014723 - P12955:p.Leu435Phe chr19 38570635 38570638 VAR_004405 - P12955:p.Gly448Arg chr19 38570215 38570218 VAR_004406 - P12955:p.452del chr17 7990130 7990133 VAR_036038 - O15534:p.Glu696Gln chr17 7987425 7987428 VAR_036039 - O15534:p.Asn985Ser chr17 7986770 7986773 VAR_036040 - O15534:p.Ser1060Leu chr2 238947641 238947644 VAR_029080 - O15055:p.Ser662Gly chr2 238944194 238944197 VAR_036041 - O15055:p.Leu823Val chr2 238937051 238937054 VAR_024558 - O15055:p.Gly1244Glu chr1 7814947 7814950 VAR_025532 + P56645:p.Val639Gly chr1 7821844 7821847 VAR_015514 + P56645:p.Pro856Ala chr1 7824318 7824321 VAR_028728 + P56645:p.Ala1007Thr chr1 7824327 7824330 VAR_028729 + P56645:p.Thr1010Ile chr1 7824381 7824384 VAR_025533 + P56645:p.Met1028Thr chr1 7830140 7830143 VAR_028730 + P56645:p.Ser1081Cys chr1 7831397 7831400 VAR_025534 + P56645:p.His1149Arg chr17 53625438 53625441 VAR_025138 + P11678:p.Ile40Met chr17 53626090 53626093 VAR_025139 + P11678:p.Gln122His chr17 53627473 53627476 VAR_025140 + P11678:p.Ala249Glu chr17 53629322 53629325 VAR_025141 + P11678:p.Lys276Arg chr17 53629352 53629355 VAR_015376 + P11678:p.Arg286His chr17 53629370 53629373 VAR_025142 + P11678:p.Pro292Leu chr17 53629472 53629475 VAR_025143 + P11678:p.Arg326Pro chr17 53629568 53629571 VAR_025144 + P11678:p.Pro358Leu chr17 53629586 53629589 VAR_025145 + P11678:p.Arg364His chr17 53631937 53631940 VAR_025146 + P11678:p.Lys441Thr chr17 53632102 53632105 VAR_025147 + P11678:p.His496Gln chr17 53635445 53635448 VAR_020031 + P11678:p.Asn572Tyr chr10 72030514 72030517 VAR_010772 - P14222:p.Val50Met chr10 72030295 72030298 VAR_010773 - P14222:p.Arg123His chr10 72030259 72030262 VAR_029773 - P14222:p.Val135Met chr10 72028933 72028936 VAR_010744 - P14222:p.Val183Gly chr10 72028810 72028813 VAR_010774 - P14222:p.Ile224Asn chr10 72028807 72028810 VAR_010745 - P14222:p.Arg225Trp chr10 72028726 72028729 VAR_010746 - P14222:p.Asn252Ser chr10 72028645 72028648 VAR_010747 - P14222:p.Cys279Tyr chr10 72028627 72028630 VAR_010775 - P14222:p.285del chr10 72028447 72028450 VAR_010748 - P14222:p.Pro345Leu chr10 72028195 72028198 VAR_010749 - P14222:p.Gly429Glu chr17 53679985 53679988 VAR_018809 + P22079:p.Thr105Ile chr17 53682930 53682933 VAR_018810 + P22079:p.Ala244Thr chr17 53687304 53687307 VAR_018811 + P22079:p.Arg414Gln chr17 53687325 53687328 VAR_018812 + P22079:p.Val421Met chr17 53698532 53698535 VAR_018813 + P22079:p.Arg514Gln chr17 53699854 53699857 VAR_018814 + P22079:p.Ile614Thr chr17 53700312 53700315 VAR_018815 + P22079:p.Asp700Asn chr17 53712814 53712817 VAR_023995 - P05164:p.Val53Phe chr17 53711911 53711914 VAR_015377 - P05164:p.Tyr173Cys chr17 53711499 53711502 VAR_015378 - P05164:p.Met251Thr chr17 53707925 53707928 VAR_036517 - P05164:p.Arg447Gln chr17 53705192 53705195 VAR_015379 - P05164:p.Arg569Trp chr17 53704232 53704235 VAR_023996 - P05164:p.Arg604Cys chr17 53703204 53703207 VAR_023997 - P05164:p.Glu683Gln chr17 53703102 53703105 VAR_012066 - P05164:p.Ile717Val chr17 4877694 4877697 VAR_028362 - Q9NWF4:p.Ala271Val chr17 4877619 4877622 VAR_028363 - Q9NWF4:p.Val296Met chr1 2370126 2370129 VAR_007805 - O60683:p.His290Gln chr17 30927033 30927036 VAR_031998 - O00623:p.Ser320Phe chr2 61187319 61187322 VAR_009306 + Q92968:p.Ile326Thr chr11 45892262 45892265 VAR_034145 - Q9Y5Y5:p.Val254Leu chr7 91778775 91778778 VAR_008876 - O43933:p.Leu664Pro chr7 91777143 91777146 VAR_034376 - O43933:p.Ile696Met chr7 91775525 91775528 VAR_008877 - O43933:p.Gly843Asp chr22 16935828 16935831 VAR_018647 + Q7Z412:p.Leu45Pro chr22 16937227 16937230 VAR_018648 + Q7Z412:p.Gly89Arg chr22 16937254 16937257 VAR_018649 + Q7Z412:p.Arg98Trp chr22 16940841 16940844 VAR_034146 + Q7Z412:p.Leu153Val chr8 78058804 78058807 VAR_011389 - P28328:p.Glu55Lys chr6 143833870 143833873 VAR_009304 + P56589:p.Gly138Glu chr3 181074864 181074867 VAR_035865 - Q8IYB4:p.Ala226Thr chr12 7253560 7253563 VAR_007543 + P50542:p.Asn526Lys chr12 7253963 7253966 VAR_031328 + P50542:p.Ser600Trp chr6 137185535 137185538 VAR_016810 + O00628:p.Thr14Pro chr6 137232735 137232738 VAR_007725 + O00628:p.Gly217Arg chr6 137232738 137232741 VAR_007726 + O00628:p.Ala218Val chr11 45931704 45931707 VAR_025515 - Q96BD5:p.Arg347His chrX 154020450 154020453 VAR_023371 + P61758:p.Met123Val chr7 43878101 43878104 VAR_006088 - P15259:p.Glu89Ala chr7 43878098 43878101 VAR_006089 - P15259:p.Arg90Trp chr7 43878077 43878080 VAR_013103 - P15259:p.Gly97Asp chrX 77031160 77031163 VAR_014355 - Q8N0Y7:p.Arg40Cys chrX 77031010 77031013 VAR_014356 - Q8N0Y7:p.Arg90Gln chrX 77030755 77030758 VAR_014357 - Q8N0Y7:p.Ile175Thr chr6 28372658 28372661 VAR_032384 + Q96JS3:p.Gly244Glu chr6 28372670 28372673 VAR_032385 + Q96JS3:p.Gln248Glu chr6 28372694 28372697 VAR_032386 + Q96JS3:p.Pro256Leu chr6 28376801 28376804 VAR_032387 + Q96JS3:p.Asn398Ser chr6 28377383 28377386 VAR_032388 + Q96JS3:p.Met592Ile chr6 28377641 28377644 VAR_032389 + Q96JS3:p.Ile678Val chr6 28378025 28378028 VAR_032390 + Q96JS3:p.His806Asp chr1 153435324 153435327 VAR_019551 + Q96GW7:p.Glu504Lys chr8 97866712 97866715 VAR_037466 + Q9Y646:p.Ser138Asn chr4 175789042 175789045 VAR_006972 - P15428:p.Tyr217Cys chr4 54968374 54968377 VAR_042032 + P16234:p.Gly79Asp chr4 54979526 54979529 VAR_042033 + P16234:p.Gly426Asp chr4 54980698 54980701 VAR_034378 + P16234:p.Ser478Pro chr4 54987543 54987546 VAR_042034 + P16234:p.Arg764Cys chr4 54992980 54992983 VAR_042035 + P16234:p.Gly829Arg chr4 54997512 54997515 VAR_042036 + P16234:p.Glu996Lys chr4 55002307 55002310 VAR_042037 + P16234:p.Asp1071Asn chr5 149495587 149495590 VAR_034377 - P09619:p.Ile29Phe chr5 149494596 149494599 VAR_035125 - P09619:p.Ser180Phe chr5 149493429 149493432 VAR_042027 - P09619:p.Glu282Lys chr5 149489636 149489639 VAR_042028 - P09619:p.Glu485Lys chr5 149485240 149485243 VAR_042029 - P09619:p.Tyr589His chr5 149482826 149482829 VAR_042030 - P09619:p.Asn718Tyr chr5 149479819 149479822 VAR_042031 - P09619:p.Thr882Ile chr8 17491247 17491250 VAR_026052 + Q15198:p.His23Tyr chr1 183377660 183377663 VAR_016262 - P35354:p.Arg228His chr1 183376158 183376161 VAR_016263 - P35354:p.Pro428Ala chr1 183375492 183375495 VAR_011980 - P35354:p.Glu488Gly chr1 183375423 183375426 VAR_011981 - P35354:p.Val511Ala chr1 183375195 183375198 VAR_016264 - P35354:p.Gly587Arg chrX 77175530 77175533 VAR_006076 + P00558:p.Leu88Pro chrX 77179007 77179010 VAR_006077 + P00558:p.Gly158Val chrX 77179025 77179028 VAR_006078 + P00558:p.Asp164Val chrX 77179741 77179744 VAR_006079 + P00558:p.191del chrX 77179786 77179789 VAR_006080 + P00558:p.Arg206Pro chrX 77184588 77184591 VAR_006081 + P00558:p.Glu252Ala chrX 77184875 77184878 VAR_006082 + P00558:p.Val266Met chrX 77184881 77184884 VAR_006083 + P00558:p.Asp268Asn chrX 77184932 77184935 VAR_006084 + P00558:p.Asp285Val chrX 77186521 77186524 VAR_006085 + P00558:p.Asp315Asn chrX 77186524 77186527 VAR_006086 + P00558:p.Cys316Arg chrX 77186632 77186635 VAR_006087 + P00558:p.Thr352Asn chr1 63771381 63771384 VAR_006090 + P36871:p.Lys68Met chr1 63809452 63809455 VAR_006091 + P36871:p.Arg221Cys chr1 63826321 63826324 VAR_006092 + P36871:p.Tyr420His chr1 63832059 63832062 VAR_034380 + P36871:p.Val501Ile chr11 73786812 73786815 VAR_028094 - Q6PCE3:p.Leu14Pro chr4 37650947 37650950 VAR_027968 + Q96G03:p.Gly10Asp chr4 37674419 37674422 VAR_027969 + Q96G03:p.Glu488Asp chrX 152293376 152293379 VAR_036605 + P21810:p.Arg266Thr chrX 152293442 152293445 VAR_036606 + P21810:p.Lys288Asn chr12 90047979 90047982 VAR_014351 - P07585:p.Thr268Met chr12 90047964 90047967 VAR_011975 - P07585:p.Glu273Gln chr19 4720739 4720742 VAR_030681 + Q8N6C7:p.Arg73Ser chr14 23806798 23806801 VAR_020406 - Q92696:p.Thr420Ala chr5 114605152 114605155 VAR_034381 - P53609:p.Ile103Val chr12 101813327 101813330 VAR_000869 - P00439:p.Ser16Pro chr12 101813315 101813318 VAR_009239 - P00439:p.Gln20Leu chr12 101809086 101809089 VAR_000870 - P00439:p.Phe39Leu chr12 101809086 101809089 VAR_000871 - P00439:p.39del chr12 101809083 101809086 VAR_000872 - P00439:p.Ser40Leu chr12 101809080 101809083 VAR_000873 - P00439:p.Leu41Phe chr12 101809080 101809083 VAR_009240 - P00439:p.Leu41Pro chr12 101809077 101809080 VAR_000874 - P00439:p.Lys42Ile chr12 101809065 101809068 VAR_000875 - P00439:p.Gly46Ser chr12 101809062 101809065 VAR_000876 - P00439:p.Ala47Val chr12 101809059 101809062 VAR_000877 - P00439:p.Leu48Ser chr12 101809044 101809047 VAR_000878 - P00439:p.Arg53His chr12 101809038 101809041 VAR_000879 - P00439:p.Phe55Leu chr12 101809035 101809038 VAR_000880 - P00439:p.Glu56Asp chr12 101791139 101791145 VAR_000881 - P00439:p.Thr63_His64delinsProAsn chr12 101791136 101791139 VAR_000882 - P00439:p.Ile65Asn chr12 101791136 101791139 VAR_000883 - P00439:p.Ile65Thr chr12 101791130 101791133 VAR_000884 - P00439:p.Ser67Pro chr12 101791127 101791130 VAR_000885 - P00439:p.Arg68Ser chr12 101791103 101791106 VAR_000886 - P00439:p.Glu76Ala chr12 101791079 101791082 VAR_000887 - P00439:p.Asp84Tyr chr12 101791070 101791073 VAR_000888 - P00439:p.Ser87Arg chr12 101791055 101791058 VAR_000889 - P00439:p.Thr92Ile chr12 101791049 101791052 VAR_000890 - P00439:p.94del chr12 101791037 101791040 VAR_000891 - P00439:p.Leu98Ser chr12 101791019 101791022 VAR_000892 - P00439:p.Ala104Asp chr12 101791001 101791004 VAR_009241 - P00439:p.Ser110Cys chr12 101773775 101773778 VAR_000893 - P00439:p.Thr124Ile chr12 101773760 101773763 VAR_000894 - P00439:p.Asp129Tyr chr12 101773718 101773721 VAR_000895 - P00439:p.Asp143Gly chr12 101773712 101773715 VAR_011566 - P00439:p.Asp145Val chr12 101773709 101773712 VAR_000896 - P00439:p.His146Tyr chr12 101762905 101762908 VAR_000897 - P00439:p.Gly148Ser chr12 101762896 101762899 VAR_000898 - P00439:p.Asp151His chr12 101762887 101762890 VAR_000899 - P00439:p.Tyr154Asn chr12 101762884 101762887 VAR_009242 - P00439:p.Arg155Pro chr12 101762878 101762881 VAR_000900 - P00439:p.Arg157Asn chr12 101762875 101762878 VAR_000901 - P00439:p.Arg158Gln chr12 101762875 101762878 VAR_000902 - P00439:p.Arg158Trp chr12 101762869 101762872 VAR_000903 - P00439:p.Gln160Pro chr12 101762866 101762869 VAR_000904 - P00439:p.Phe161Ser chr12 101762857 101762860 VAR_000905 - P00439:p.Ile164Thr chr12 101762848 101762851 VAR_000906 - P00439:p.Asn167Ile chr12 101762848 101762851 VAR_011567 - P00439:p.Asn167Ser chr12 101762842 101762845 VAR_011568 - P00439:p.Arg169His chr12 101751573 101751576 VAR_000908 - P00439:p.Gly171Ala chr12 101751573 101751576 VAR_000909 - P00439:p.Gly171Arg chr12 101751567 101751570 VAR_000910 - P00439:p.Pro173Thr chr12 101751564 101751567 VAR_000911 - P00439:p.Ile174Thr chr12 101751564 101751567 VAR_011570 - P00439:p.Ile174Val chr12 101751561 101751564 VAR_000912 - P00439:p.Pro175Ala chr12 101751558 101751561 VAR_000913 - P00439:p.Arg176Leu chr12 101751558 101751561 VAR_000914 - P00439:p.Arg176Pro chr12 101751555 101751558 VAR_000915 - P00439:p.Val177Leu chr12 101751552 101751555 VAR_000916 - P00439:p.Glu178Gly chr12 101751537 101751540 VAR_009243 - P00439:p.Glu183Gln chr12 101751516 101751519 VAR_000917 - P00439:p.Val190Ala chr12 101751504 101751507 VAR_000918 - P00439:p.Leu194Pro chr12 101751504 101751507 VAR_000919 - P00439:p.194del chr12 101751495 101751498 VAR_000920 - P00439:p.197del chr12 101751492 101751495 VAR_000921 - P00439:p.198del chr12 101751483 101751486 VAR_000922 - P00439:p.His201Arg chr12 101751483 101751486 VAR_000923 - P00439:p.His201Tyr chr12 101751474 101751477 VAR_000924 - P00439:p.Tyr204Cys chr12 101751471 101751474 VAR_011571 - P00439:p.Glu205Ala chr12 101751468 101751471 VAR_000925 - P00439:p.Tyr206Asp chr12 101751465 101751468 VAR_000926 - P00439:p.Asn207Asp chr12 101751465 101751468 VAR_000927 - P00439:p.Asn207Ser chr12 101751453 101751456 VAR_000928 - P00439:p.Pro211Thr chr12 101751450 101751453 VAR_000929 - P00439:p.Leu212Pro chr12 101751447 101751450 VAR_000930 - P00439:p.Leu213Pro chr12 101751435 101751438 VAR_000931 - P00439:p.Cys217Gly chr12 101751432 101751435 VAR_000932 - P00439:p.Gly218Val chr12 101751423 101751426 VAR_000933 - P00439:p.Glu221Gly chr12 101751420 101751423 VAR_000934 - P00439:p.Asp222Val chr12 101751414 101751417 VAR_000935 - P00439:p.Ile224Met chr12 101751411 101751414 VAR_000936 - P00439:p.Pro225Arg chr12 101751411 101751414 VAR_000937 - P00439:p.Pro225Thr chr12 101751396 101751399 VAR_000938 - P00439:p.Val230Ile chr12 101751393 101751396 VAR_009244 - P00439:p.Ser231Phe chr12 101751393 101751396 VAR_000939 - P00439:p.Ser231Pro chr12 101751387 101751390 VAR_000940 - P00439:p.Phe233Leu chr12 101749187 101749190 VAR_000941 - P00439:p.Thr238Pro chr12 101749184 101749187 VAR_000942 - P00439:p.Gly239Ser chr12 101749181 101749184 VAR_011572 - P00439:p.Phe240Ser chr12 101749178 101749181 VAR_000943 - P00439:p.Arg241Cys chr12 101749178 101749181 VAR_000944 - P00439:p.Arg241His chr12 101749178 101749181 VAR_000945 - P00439:p.Arg241Leu chr12 101749175 101749178 VAR_000946 - P00439:p.Leu242Phe chr12 101749172 101749175 VAR_000947 - P00439:p.Arg243Gln chr12 101749169 101749172 VAR_000948 - P00439:p.Pro244Leu chr12 101749166 101749169 VAR_000949 - P00439:p.Val245Ala chr12 101749166 101749169 VAR_000950 - P00439:p.Val245Glu chr12 101749166 101749169 VAR_000951 - P00439:p.Val245Leu chr12 101749163 101749166 VAR_000952 - P00439:p.Ala246Asp chr12 101749160 101749163 VAR_000953 - P00439:p.Gly247Val chr12 101749157 101749160 VAR_000954 - P00439:p.Leu248Pro chr12 101749154 101749157 VAR_000955 - P00439:p.Leu249Phe chr12 101749145 101749148 VAR_000956 - P00439:p.Arg252Gly chr12 101749145 101749148 VAR_000957 - P00439:p.Arg252Gln chr12 101749145 101749148 VAR_000958 - P00439:p.Arg252Trp chr12 101749136 101749139 VAR_000960 - P00439:p.Leu255Ser chr12 101749136 101749139 VAR_000959 - P00439:p.Leu255Val chr12 101749130 101749133 VAR_000961 - P00439:p.Gly257Cys chr12 101749124 101749127 VAR_000962 - P00439:p.Ala259Thr chr12 101749124 101749127 VAR_000963 - P00439:p.Ala259Val chr12 101749118 101749121 VAR_000964 - P00439:p.Arg261Pro chr12 101749118 101749121 VAR_000965 - P00439:p.Arg261Gln chr12 101749112 101749115 VAR_000966 - P00439:p.Phe263Leu chr12 101749109 101749112 VAR_000967 - P00439:p.His264Leu chr12 101749106 101749109 VAR_000968 - P00439:p.Cys265Gly chr12 101749094 101749097 VAR_000969 - P00439:p.Ile269Leu chr12 101749091 101749094 VAR_000970 - P00439:p.Arg270Lys chr12 101749091 101749094 VAR_000971 - P00439:p.Arg270Ser chr12 101749088 101749091 VAR_000972 - P00439:p.His271Tyr chr12 101749082 101749085 VAR_000973 - P00439:p.Ser273Phe chr12 101749079 101749082 VAR_011573 - P00439:p.Lys274Glu chr12 101749073 101749076 VAR_000974 - P00439:p.Met276Ile chr12 101749073 101749076 VAR_000975 - P00439:p.Met276Val chr12 101749070 101749073 VAR_000976 - P00439:p.Tyr277Cys chr12 101749070 101749073 VAR_000977 - P00439:p.Tyr277Asp chr12 101749067 101749070 VAR_000978 - P00439:p.Thr278Ala chr12 101749067 101749070 VAR_000979 - P00439:p.Thr278Asn chr12 101749061 101749064 VAR_000980 - P00439:p.Glu280Lys chr12 101747997 101748000 VAR_000982 - P00439:p.Asp282Asn chr12 101747994 101747997 VAR_000983 - P00439:p.Ile283Phe chr12 101747994 101747997 VAR_000984 - P00439:p.Ile283Asn chr12 101747952 101747955 VAR_000985 - P00439:p.Arg297Cys chr12 101747952 101747955 VAR_000986 - P00439:p.Arg297His chr12 101747946 101747949 VAR_000987 - P00439:p.Phe299Cys chr12 101747943 101747946 VAR_000988 - P00439:p.Ala300Ser chr12 101747943 101747946 VAR_000989 - P00439:p.Ala300Val chr12 101747934 101747937 VAR_000990 - P00439:p.Ser303Pro chr12 101747931 101747934 VAR_000991 - P00439:p.Gln304Arg chr12 101743190 101743193 VAR_000992 - P00439:p.Ile306Val chr12 101743181 101743184 VAR_000993 - P00439:p.Ala309Asp chr12 101743181 101743184 VAR_000994 - P00439:p.Ala309Val chr12 101743178 101743181 VAR_000995 - P00439:p.Ser310Phe chr12 101743175 101743178 VAR_000996 - P00439:p.Leu311Pro chr12 101743166 101743169 VAR_000997 - P00439:p.Pro314His chr12 101743154 101743157 VAR_011574 - P00439:p.Ile318Thr chr12 101743142 101743145 VAR_000998 - P00439:p.Ala322Gly chr12 101743142 101743145 VAR_000999 - P00439:p.Ala322Thr chr12 101740670 101740673 VAR_009245 - P00439:p.Tyr325Cys chr12 101740655 101740658 VAR_009246 - P00439:p.Glu330Asp chr12 101740652 101740655 VAR_001000 - P00439:p.Phe331Leu chr12 101740646 101740649 VAR_001001 - P00439:p.Leu333Phe chr12 101740643 101740646 VAR_001002 - P00439:p.Cys334Ser chr12 101740634 101740637 VAR_001003 - P00439:p.Gly337Val chr12 101740631 101740634 VAR_001004 - P00439:p.Asp338Tyr chr12 101740622 101740625 VAR_001005 - P00439:p.Lys341Arg chr12 101740622 101740625 VAR_001006 - P00439:p.Lys341Thr chr12 101740619 101740622 VAR_001007 - P00439:p.Ala342Thr chr12 101740616 101740619 VAR_001008 - P00439:p.Tyr343Cys chr12 101740613 101740616 VAR_009247 - P00439:p.Gly344Arg chr12 101740613 101740616 VAR_009248 - P00439:p.Gly344Val chr12 101740610 101740613 VAR_001009 - P00439:p.Ala345Ser chr12 101740610 101740613 VAR_001010 - P00439:p.Ala345Thr chr12 101740604 101740607 VAR_001011 - P00439:p.Leu347Phe chr12 101740601 101740604 VAR_001012 - P00439:p.Leu348Val chr12 101740598 101740601 VAR_001013 - P00439:p.Ser349Leu chr12 101740598 101740601 VAR_001014 - P00439:p.Ser349Pro chr12 101740595 101740598 VAR_001015 - P00439:p.Ser350Thr chr12 101740018 101740021 VAR_011575 - P00439:p.Cys357Gly chr12 101740003 101740006 VAR_001016 - P00439:p.Pro362Thr chr12 101739985 101740000 VAR_001018 - P00439:p.364_368del chr12 101739997 101740000 VAR_001017 - P00439:p.364del chr12 101739991 101739994 VAR_001019 - P00439:p.Pro366His chr12 101739973 101739976 VAR_001020 - P00439:p.Thr372Ser chr12 101739958 101739961 VAR_001021 - P00439:p.Tyr377Cys chr12 101739949 101739952 VAR_001022 - P00439:p.Thr380Met chr12 101739931 101739934 VAR_001023 - P00439:p.Tyr386Cys chr12 101739928 101739931 VAR_001024 - P00439:p.Tyr387His chr12 101739925 101739928 VAR_001025 - P00439:p.Val388Leu chr12 101739925 101739928 VAR_001026 - P00439:p.Val388Met chr12 101739919 101739922 VAR_001027 - P00439:p.Glu390Gly chr12 101739907 101739910 VAR_001028 - P00439:p.Asp394Ala chr12 101739907 101739910 VAR_001029 - P00439:p.Asp394His chr12 101739904 101739907 VAR_001030 - P00439:p.Ala395Gly chr12 101739904 101739907 VAR_001031 - P00439:p.Ala395Pro chr12 101736750 101736753 VAR_001033 - P00439:p.Ala403Val chr12 101736738 101736741 VAR_011576 - P00439:p.Pro407Ser chr12 101736735 101736738 VAR_001034 - P00439:p.Arg408Gln chr12 101736735 101736738 VAR_001035 - P00439:p.Arg408Trp chr12 101736729 101736732 VAR_009249 - P00439:p.Phe410Ser chr12 101736720 101736723 VAR_001036 - P00439:p.Arg413Pro chr12 101736720 101736723 VAR_001037 - P00439:p.Arg413Ser chr12 101736717 101736720 VAR_001038 - P00439:p.Tyr414Cys chr12 101736714 101736717 VAR_001039 - P00439:p.Asp415Asn chr12 101736705 101736708 VAR_001040 - P00439:p.Thr418Pro chr12 101736669 101736672 VAR_001041 - P00439:p.Leu430Pro chr12 101735437 101735440 VAR_001042 - P00439:p.Ala447Asp chr20 57763732 57763735 VAR_021969 + Q96KR7:p.Pro154Leu chr17 44841820 44841823 VAR_006479 - P35232:p.Val88Ala chr17 44841769 44841772 VAR_006480 - P35232:p.Arg105His chrX 21824865 21824868 VAR_006738 + P78562:p.Cys77Ser chrX 21824874 21824877 VAR_010616 + P78562:p.Phe80Ser chrX 21824889 21824892 VAR_010617 + P78562:p.Cys85Phe chrX 21824889 21824892 VAR_010618 + P78562:p.Cys85Arg chrX 21824889 21824892 VAR_006739 + P78562:p.Cys85Tyr chrX 21854224 21854227 VAR_006740 + P78562:p.Leu138Pro chrX 21854233 21854236 VAR_010619 + P78562:p.Ser141Pro chrX 21854236 21854239 VAR_010620 + P78562:p.Cys142Phe chrX 21855291 21855294 VAR_010621 + P78562:p.Leu160Arg chrX 21855309 21855312 VAR_006741 + P78562:p.Arg166Cys chrX 21868248 21868251 VAR_010622 + P78562:p.Asp237Gly chrX 21871778 21871781 VAR_006742 + P78562:p.Phe252Ser chrX 21871781 21871784 VAR_006743 + P78562:p.Met253Ile chrX 21876795 21876798 VAR_010623 + P78562:p.Tyr317Phe chrX 21876867 21876870 VAR_010624 + P78562:p.341del chrX 21911323 21911326 VAR_010625 + P78562:p.Trp444Trp chrX 21968218 21968221 VAR_010626 + P78562:p.Trp530Cys chrX 21968230 21968233 VAR_006744 + P78562:p.Pro534Leu chrX 21990694 21990697 VAR_010627 + P78562:p.Leu555Pro chrX 21990730 21990732 VAR_010628 + P78562:p.Arg567Pro chrX 21996809 21996810 VAR_010628 + P78562:p.Arg567Pro chrX 21996825 21996828 VAR_010629 + P78562:p.Ala573Asp chrX 21996843 21996846 VAR_006745 + P78562:p.Gly579Arg chrX 21996843 21996846 VAR_006746 + P78562:p.Gly579Val chrX 21999478 21999481 VAR_010630 + P78562:p.Gln621Arg chrX 22004267 22004270 VAR_010631 + P78562:p.Arg651Pro chrX 22005352 22005355 VAR_010633 + P78562:p.Asn680Lys chrX 22005352 22005355 VAR_010632 + P78562:p.680del chrX 22023112 22023115 VAR_010634 + P78562:p.Cys693Tyr chrX 22025634 22025637 VAR_010635 + P78562:p.Ala720Thr chrX 22025667 22025670 VAR_010636 + P78562:p.Phe731Tyr chrX 22025673 22025676 VAR_010637 + P78562:p.Cys733Ser chrX 22025712 22025715 VAR_010638 + P78562:p.Cys746Trp chrX 22025721 22025724 VAR_010639 + P78562:p.Trp749Arg chr6 64480942 64480945 VAR_022040 + Q92576:p.His1834Tyr chrX 133237299 133237302 VAR_017633 + Q8IWS0:p.Cys45Tyr chrX 133253104 133253107 VAR_017634 + Q8IWS0:p.Cys99Phe chrX 133273471 133273474 VAR_017635 + Q8IWS0:p.His229Arg chrX 133273486 133273489 VAR_017636 + Q8IWS0:p.Lys234Glu chrX 133274604 133274607 VAR_017637 + Q8IWS0:p.Arg257Gly chr3 52432331 52432334 VAR_035957 + Q9BWX1:p.Lys369Asn chr6 79781634 79781637 VAR_036238 - Q8WWQ0:p.Val469Ile chr6 79749468 79749471 VAR_034684 - Q8WWQ0:p.Thr874Ile chr6 79732418 79732421 VAR_034685 - Q8WWQ0:p.Leu1093Pro chr6 79729662 79729665 VAR_034686 - Q8WWQ0:p.Thr1135Pro chr6 79713181 79713184 VAR_034687 - Q8WWQ0:p.Asn1445Thr chr6 79707293 79707296 VAR_036239 - Q8WWQ0:p.Arg1767Ile chr16 30670414 30670417 VAR_009517 + P15735:p.Val106Glu chr16 30672291 30672294 VAR_020854 + P15735:p.Glu157Lys chr16 30675011 30675014 VAR_009518 + P15735:p.Gly189Glu chr16 30675089 30675092 VAR_020855 + P15735:p.Asp215Asn chr16 30675646 30675649 VAR_040996 + P15735:p.Ala317Thr chr3 113155514 113155517 VAR_024760 + Q86SQ0:p.Pro941Ser chr10 72313790 72313793 VAR_005527 - P61457:p.Thr79Ile chr10 72313781 72313784 VAR_005528 - P61457:p.Cys82Arg chr10 72313763 72313766 VAR_005529 - P61457:p.Arg88Gln chr10 72313736 72313739 VAR_005530 - P61457:p.Glu97Lys chr6 30760706 30760709 VAR_034045 - Q6NYC8:p.Pro356Leu chr11 71632480 71632483 VAR_019014 - O14813:p.Ala72Val chr11 71628527 71628530 VAR_019016 - O14813:p.Pro256Gln chr4 41590422 41590425 VAR_026969 - Q99453:p.Arg100Leu chr4 41590299 41590302 VAR_026970 - Q99453:p.Arg141Gly chr4 41588973 41588976 VAR_018257 - Q99453:p.Ala241Ala chr4 41588922 41588937 VAR_018258 - Q99453:p.254_258del chr4 41588919 41588934 VAR_018259 - Q99453:p.255_259del chr8 22141752 22141755 VAR_018475 - Q92561:p.Arg21Ser chr6 37030661 37030664 VAR_032337 + Q6UXB8:p.Thr50Pro chr6 37039341 37039344 VAR_032338 + Q6UXB8:p.Leu416Val chr19 51819247 51819250 VAR_024260 - P43119:p.Val25Met chr3 131937458 131937461 VAR_040997 - Q99570:p.Phe273Leu chr3 131935513 131935516 VAR_040998 - Q99570:p.Arg342His chr3 131935498 131935501 VAR_040999 - Q99570:p.Arg347Trp chr3 131935375 131935378 VAR_041000 - Q99570:p.Thr388Ile chr3 131935360 131935363 VAR_041001 - Q99570:p.Asp393Asn chr3 131919960 131919963 VAR_041002 - Q99570:p.Leu699Val chr3 131907226 131907229 VAR_035632 - Q99570:p.Arg936Gln chr3 131892165 131892168 VAR_041003 - Q99570:p.Gly1043Val chr17 8755452 8755455 VAR_036227 - Q8WYR1:p.Arg28Cys chr10 22879632 22879635 VAR_024565 - P48426:p.Asn251Ser chr12 56274149 56274152 VAR_032049 + Q8TBX8:p.Val84Ala chr12 56280394 56280397 VAR_032050 + Q8TBX8:p.Lys241Arg chr9 68779400 68779403 VAR_023712 + O14986:p.Ala415Thr chr19 3604449 3604452 VAR_036996 - O60331:p.Asp253Asn chr22 29846275 29846278 VAR_028107 + Q15735:p.Ser333Ile chr11 85403632 85403635 VAR_028191 - Q13492:p.Thr158Pro chr11 85389338 85389341 VAR_028192 - Q13492:p.Ser383Phe chr11 85369864 85369867 VAR_028193 - Q13492:p.Trp578Cys chr11 85369861 85369864 VAR_028194 - Q13492:p.Gln579Glu chr11 85363419 85363422 VAR_028195 - Q13492:p.Phe641Leu chr11 792377 792380 VAR_028031 - Q9HB75:p.Gln331Arg chrX 15109652 15109655 VAR_015442 - P37287:p.Arg19Trp chrX 15109589 15109592 VAR_015436 - P37287:p.Asp40His chrX 15109565 15109568 VAR_015437 - P37287:p.Gly48Ala chrX 15109565 15109568 VAR_015438 - P37287:p.Gly48Asp chrX 15109565 15109568 VAR_015439 - P37287:p.Gly48Val chrX 15109325 15109328 VAR_015440 - P37287:p.His128Arg chrX 15109244 15109247 VAR_005531 - P37287:p.Ser155Phe chrX 15103823 15103825 VAR_015441 - P37287:p.Gly239Arg chrX 15108994 15108995 VAR_015441 - P37287:p.Gly239Arg chrX 15102888 15102891 VAR_005532 - P37287:p.Asn297Asp chr15 53399802 53399805 VAR_027027 + Q92521:p.Ile68Leu chr15 53407086 53407089 VAR_027028 + Q92521:p.Met162Thr chr15 53420149 53420152 VAR_027029 + Q92521:p.Trp299Leu chr15 53434399 53434402 VAR_027030 + Q92521:p.Leu484Ser chr15 53434907 53434910 VAR_027031 + Q92521:p.Lys551Thr chr1 169142621 169142624 VAR_011360 - Q92535:p.Pro266Ser chr4 505487 505490 VAR_027022 + Q5H8A4:p.Arg458His chr4 507460 507463 VAR_027023 + Q5H8A4:p.Cys610Arg chr4 510852 510855 VAR_027024 + Q5H8A4:p.Val699Ile chr4 522999 523002 VAR_027025 + Q5H8A4:p.Phe932Ser chr1 156813507 156813510 VAR_027026 - Q9H3S5:p.Phe365Leu chr9 35081825 35081828 VAR_036332 - Q8TEQ8:p.Leu686Met chr16 564114 564117 VAR_015596 + Q9BRB3:p.Thr14Ala chr17 23912765 23912768 VAR_036510 - Q96S52:p.Met159Ile chr19 54646616 54646619 VAR_035410 - Q9NWS0:p.Met9Leu chr19 54646613 54646616 VAR_035411 - Q9NWS0:p.Gly10Glu chr19 54642107 54642110 VAR_035412 - Q9NWS0:p.Val224Ile chr19 54641760 54641763 VAR_035413 - Q9NWS0:p.Asp230Glu chr19 54641462 54641465 VAR_035414 - Q9NWS0:p.Pro287Leu chr11 111447167 111447170 VAR_035415 - Q8WWB5:p.Ala117Val chr14 38720674 38720677 VAR_023368 + Q9H307:p.Ser671Gly chr1 20709694 20709697 VAR_041010 + Q9BXM7:p.Leu148Trp chr1 20709838 20709841 VAR_041011 + Q9BXM7:p.Pro196Ser chr1 20709877 20709880 VAR_041012 + Q9BXM7:p.Pro209Leu chr1 20709895 20709898 VAR_041013 + Q9BXM7:p.Pro215Leu chr1 20716424 20716427 VAR_018993 + Q9BXM7:p.Pro305Leu chr1 20716436 20716439 VAR_018994 + Q9BXM7:p.Gly309Asp chr1 20717413 20717416 VAR_041014 + Q9BXM7:p.Ala339Thr chr1 20717416 20717419 VAR_018995 + Q9BXM7:p.Ala340Thr chr1 20717419 20717422 VAR_041015 + Q9BXM7:p.Met341Ile chr1 20720308 20720311 VAR_041016 + Q9BXM7:p.Cys377Phe chr1 20720970 20720973 VAR_041017 + Q9BXM7:p.Ser477Thr chr1 20722304 20722307 VAR_018996 + Q9BXM7:p.Asn521Thr chr3 87408290 87408293 VAR_003776 - P28069:p.Gln4Arg chr3 87408230 87408233 VAR_003777 - P28069:p.Pro24Leu chr3 87396161 87396164 VAR_010574 - P28069:p.Phe135Cys chr3 87396137 87396140 VAR_003778 - P28069:p.Arg143Gln chr3 87394040 87394043 VAR_003779 - P28069:p.Ala158Pro chr3 87393992 87393995 VAR_010575 - P28069:p.Glu174Gly chr3 87393935 87393938 VAR_015260 - P28069:p.Trp193Arg chr3 87391928 87391931 VAR_003780 - P28069:p.Asp227Tyr chr3 87391892 87391895 VAR_010576 - P28069:p.Pro239Ser chr3 87391796 87391799 VAR_003781 - P28069:p.Arg271Trp chr4 111900046 111900049 VAR_003762 - Q99697:p.Arg89Trp chr4 111900013 111900016 VAR_003763 - Q99697:p.Leu100Gln chr4 111899989 111899992 VAR_035027 - Q99697:p.Arg108His chr4 111899971 111899974 VAR_003764 - Q99697:p.Thr114Pro chr4 111899968 111899971 VAR_003765 - Q99697:p.Arg115His chr4 111897436 111899932 VAR_035028 - Q99697:p.128_134del chr4 111899926 111899929 VAR_035029 - Q99697:p.Val129Leu chr4 111897427 111897430 VAR_003766 - Q99697:p.Arg137Pro chr10 103981788 103981791 VAR_003767 - O75364:p.Ser13Asn chr12 129366408 129366411 VAR_026288 + Q96J94:p.Lys491Asn chr12 129366516 129366519 VAR_026289 + Q96J94:p.Arg527Lys chr12 129370661 129370664 VAR_026290 + Q96J94:p.Leu575Pro chr22 23470304 23470307 VAR_034383 - Q7Z3Z3:p.Pro375Ser chr22 23470022 23470025 VAR_034384 - Q7Z3Z3:p.Cys412Arg chr11 93947877 93947880 VAR_028367 + Q7Z3Z4:p.Gln78Arg chr11 93961998 93962001 VAR_026291 + Q7Z3Z4:p.Gln327Leu chr5 108700842 108700845 VAR_030699 - O43164:p.Ala705Thr chr2 179143802 179143805 VAR_027387 + Q0ZLH3:p.Thr54Ile chr2 179146382 179146385 VAR_027388 + Q0ZLH3:p.Arg183Trp chr7 47742164 47742167 VAR_024566 - Q8TDX9:p.Val312Phe chr7 47698569 47698572 VAR_024567 - Q8TDX9:p.Arg1053Pro chr7 47686816 47686819 VAR_024568 - Q8TDX9:p.Lys1272Glu chr7 47626074 47626077 VAR_021944 - Q8TDX9:p.Glu2410Lys chr10 102046732 102046735 VAR_024569 - Q9P0L9:p.Val393Ile chr10 102040230 102040233 VAR_024570 - Q9P0L9:p.Arg681Leu chr16 2125652 2125655 VAR_011030 - P98161:p.Leu13Gln chr16 2109370 2109373 VAR_011031 - P98161:p.Ser75Phe chr16 2109331 2109334 VAR_012452 - P98161:p.Ala88Val chr16 2108789 2108792 VAR_011032 - P98161:p.Trp139Cys chr16 2108021 2108024 VAR_010085 - P98161:p.Arg324Leu chr16 2104489 2104492 VAR_010086 - P98161:p.Leu845Ser chr16 2103246 2103249 VAR_012453 - P98161:p.Trp967Arg chr16 2101670 2101673 VAR_011033 - P98161:p.Gly1166Ser chr16 2100971 2100974 VAR_010087 - P98161:p.Trp1399Arg chr16 2099810 2099813 VAR_010088 - P98161:p.Pro1786Leu chr16 2099300 2099303 VAR_011034 - P98161:p.Val1956Glu chr16 2099189 2099195 VAR_011035 - P98161:p.Phe1992_Thr1993delinsLeu chr16 2099183 2099186 VAR_011036 - P98161:p.Arg1995His chr16 2098496 2098511 VAR_011037 - P98161:p.2220_2224del chr16 2098418 2098421 VAR_011038 - P98161:p.Thr2250Met chr16 2097962 2097965 VAR_011039 - P98161:p.Arg2329Trp chr16 2097941 2097944 VAR_011040 - P98161:p.Tyr2336Asp chr16 2096878 2096881 VAR_011041 - P98161:p.Tyr2379Cys chr16 2096839 2096842 VAR_012454 - P98161:p.Arg2392Pro chr16 2096664 2096667 VAR_011042 - P98161:p.Arg2408Cys chr16 2096619 2096622 VAR_012455 - P98161:p.Ser2423Phe chr16 2096559 2096562 VAR_011043 - P98161:p.Gly2443Gly chr16 2096475 2096478 VAR_012456 - P98161:p.Pro2471Leu chr16 2096238 2096241 VAR_012457 - P98161:p.Gln2519Leu chr16 2096151 2096154 VAR_012458 - P98161:p.Glu2548Gln chr16 2095992 2095995 VAR_012459 - P98161:p.2579del chr16 2095983 2095986 VAR_012460 - P98161:p.Thr2582Met chr16 2095917 2095920 VAR_011044 - P98161:p.Asp2604Asn chr16 2095890 2095893 VAR_012461 - P98161:p.2613del chr16 2095425 2095428 VAR_012462 - P98161:p.His2638Arg chr16 2095392 2095395 VAR_012463 - P98161:p.Thr2649Ile chr16 2094638 2094641 VAR_011045 - P98161:p.Pro2674Ser chr16 2094572 2094575 VAR_012464 - P98161:p.Leu2696Arg chr16 2094536 2094539 VAR_011046 - P98161:p.Thr2708Met chr16 2093856 2093859 VAR_011047 - P98161:p.Pro2734Thr chr16 2093853 2093856 VAR_011048 - P98161:p.Gln2735Leu chr16 2093820 2093823 VAR_014918 - P98161:p.Arg2746Pro chr16 2093802 2093805 VAR_011049 - P98161:p.Ala2752Asp chr16 2093778 2093781 VAR_005533 - P98161:p.Met2760Thr chr16 2093775 2093778 VAR_005534 - P98161:p.Arg2761Pro chr16 2093769 2093772 VAR_005535 - P98161:p.Leu2763Val chr16 2093766 2093769 VAR_005536 - P98161:p.Met2764Thr chr16 2093763 2093766 VAR_011051 - P98161:p.Arg2765Cys chr16 2093763 2093766 VAR_011050 - P98161:p.Arg2765Arg chr16 2093754 2093757 VAR_011052 - P98161:p.Val2768Met chr16 2093745 2093748 VAR_011053 - P98161:p.Glu2771Lys chr16 2093712 2093715 VAR_011054 - P98161:p.Val2782Met chr16 2093685 2093688 VAR_005537 - P98161:p.Arg2791Gln chr16 2093616 2093619 VAR_011055 - P98161:p.Gly2814Arg chr16 2093610 2093613 VAR_011056 - P98161:p.Leu2816Pro chr16 2093580 2093583 VAR_005538 - P98161:p.Ile2826Thr chr16 2093484 2093487 VAR_011057 - P98161:p.Gly2858Ser chr16 2093394 2093397 VAR_011058 - P98161:p.Arg2888Gly chr16 2093343 2093346 VAR_011059 - P98161:p.Val2905Ile chr16 2093295 2093298 VAR_011060 - P98161:p.His2921Pro chr16 2092865 2092868 VAR_011061 - P98161:p.Glu2966Asp chr16 2092847 2092850 VAR_012465 - P98161:p.Asp2972Asn chr16 2092829 2092832 VAR_012466 - P98161:p.2978del chr16 2092628 2092631 VAR_012467 - P98161:p.Arg2985Gly chr16 2092604 2092607 VAR_010089 - P98161:p.Leu2993Pro chr16 2092559 2092562 VAR_005539 - P98161:p.Val3008Leu chr16 2092532 2092550 VAR_011062 - P98161:p.3012_3017del chr16 2092535 2092538 VAR_010090 - P98161:p.Gln3016Arg chr16 2092466 2092469 VAR_012468 - P98161:p.Arg3039Cys chr16 2092385 2092388 VAR_011063 - P98161:p.Phe3066Leu chr16 2090548 2090551 VAR_011064 - P98161:p.Gly3139Val chr16 2090300 2090303 VAR_011065 - P98161:p.Pro3193Leu chr16 2090044 2090047 VAR_013838 - P98161:p.Arg3247His chr16 2089930 2089933 VAR_012469 - P98161:p.Val3285Ile chr16 2089762 2089765 VAR_012470 - P98161:p.His3311Arg chr16 2087911 2087914 VAR_005541 - P98161:p.Val3375Met chr16 2087890 2087893 VAR_013839 - P98161:p.Thr3382Met chr16 2084181 2084184 VAR_010091 - P98161:p.Thr3510Met chr16 2084178 2084181 VAR_010092 - P98161:p.Leu3511Val chr16 2084175 2084178 VAR_011066 - P98161:p.Ala3512Val chr16 2083953 2083956 VAR_012471 - P98161:p.Gly3560Arg chr16 2083947 2083950 VAR_010093 - P98161:p.Ser3562Asn chr16 2083665 2083668 VAR_005542 - P98161:p.Glu3632Asp chr16 2083077 2083080 VAR_005543 - P98161:p.Met3678Thr chr16 2082494 2082509 VAR_005544 - P98161:p.3748_3752del chr16 2082491 2082494 VAR_011068 - P98161:p.Arg3753Trp chr16 2081874 2081877 VAR_011069 - P98161:p.Asp3815Asn chr16 2081580 2081583 VAR_011070 - P98161:p.Leu3852Pro chr16 2080900 2080903 VAR_010094 - P98161:p.Phe3996Phe chr16 2080717 2080720 VAR_005545 - P98161:p.Gly4032Asp chr16 2080678 2080681 VAR_005546 - P98161:p.Ile4045Val chr16 2080556 2080559 VAR_005547 - P98161:p.Val4058Ala chr16 2080553 2080556 VAR_010095 - P98161:p.Ala4059Val chr16 2080334 2080337 VAR_011071 - P98161:p.4132del chr16 2080322 2080325 VAR_010096 - P98161:p.Arg4136Gly chr16 2080178 2080181 VAR_010097 - P98161:p.Arg4154Cys chr16 2080070 2080073 VAR_010098 - P98161:p.Ser4190Phe chr16 2079965 2079968 VAR_010099 - P98161:p.Gln4225Pro chr16 2079812 2079815 VAR_010100 - P98161:p.Arg4276Trp chr4 89286145 89286148 VAR_011072 + Q13563:p.Arg28Pro chr4 89316803 89316806 VAR_011073 + Q13563:p.Ala356Pro chr4 89321708 89321711 VAR_009195 + Q13563:p.Trp414Gly chr4 89325006 89325009 VAR_014919 + Q13563:p.Ile452Val chr4 89325087 89325090 VAR_011074 + Q13563:p.479del chr4 89325162 89325189 VAR_011075 + Q13563:p.504_512del chr4 89340266 89340269 VAR_011076 + Q13563:p.684del chr22 44977731 44977734 VAR_036573 - Q9NTG1:p.Ala669Gly chr22 44976297 44976300 VAR_034386 - Q9NTG1:p.Ile1147Met chr22 44974113 44974116 VAR_036574 - Q9NTG1:p.Thr1875Ile chr10 124179186 124179189 VAR_024562 + Q9HB21:p.Thr320Ala chr11 16819818 16819821 VAR_032346 - Q6IQ23:p.Leu241Ile chr11 16819797 16819800 VAR_032347 - Q6IQ23:p.Ala248Val chr11 16819704 16819707 VAR_032348 - Q6IQ23:p.Gln279Arg chr11 16781172 16781175 VAR_032349 - Q6IQ23:p.Val693Ile chr7 29874755 29874758 VAR_035444 + Q96JA3:p.Val368Glu chr6 52057639 52057642 VAR_018520 - Q8TCZ9:p.Ala17Val chr6 52056007 52056010 VAR_036228 - Q8TCZ9:p.Arg19His chr6 52055989 52055992 VAR_018521 - Q8TCZ9:p.Ile25Val chr6 52055956 52055959 VAR_014039 - Q8TCZ9:p.Thr36Met chr6 52043763 52043766 VAR_014040 - Q8TCZ9:p.Ile222Val chr6 52042232 52042235 VAR_014041 - Q8TCZ9:p.Phe253Leu chr6 52037766 52037769 VAR_018523 - Q8TCZ9:p.Ile307Thr chr6 52035277 52035280 VAR_027439 - Q8TCZ9:p.Phe372Leu chr6 52032756 52032759 VAR_018525 - Q8TCZ9:p.387del chr6 52031220 52031223 VAR_018526 - Q8TCZ9:p.Glu457Asp chr6 52031172 52031175 VAR_018527 - Q8TCZ9:p.Ile473Ser chr6 52031133 52031136 VAR_018528 - Q8TCZ9:p.Tyr486His chr6 52031127 52031130 VAR_018529 - Q8TCZ9:p.Arg488Pro chr6 52031103 52031106 VAR_018530 - Q8TCZ9:p.Arg496Pro chr6 52028442 52028445 VAR_018531 - Q8TCZ9:p.Thr579Met chr6 52026004 52026007 VAR_018532 - Q8TCZ9:p.Trp656Cys chr6 52025863 52025866 VAR_018533 - Q8TCZ9:p.Asp703Asn chr6 52022996 52022999 VAR_018534 - Q8TCZ9:p.Val732Phe chr6 52022975 52022978 VAR_018535 - Q8TCZ9:p.Pro739Leu chr6 52022936 52022939 VAR_014042 - Q8TCZ9:p.Thr752Met chr6 52022921 52022924 VAR_018536 - Q8TCZ9:p.Ile757Leu chr6 52018937 52018940 VAR_018537 - Q8TCZ9:p.Pro805Leu chr6 52018862 52018865 VAR_018538 - Q8TCZ9:p.Asn830Ser chr6 52018796 52018799 VAR_014045 - Q8TCZ9:p.Trp852Arg chr6 52017740 52017743 VAR_018539 - Q8TCZ9:p.Thr899Pro chr6 52015721 52015724 VAR_018540 - Q8TCZ9:p.Met997Lys chr6 52015622 52015625 VAR_018541 - Q8TCZ9:p.Ala1030Glu chr6 52005907 52005910 VAR_036229 - Q8TCZ9:p.Arg1081Cys chr6 52005862 52005865 VAR_036230 - Q8TCZ9:p.Leu1096Arg chr6 52001103 52001106 VAR_018542 - Q8TCZ9:p.Gly1123Ser chr6 52001064 52001067 VAR_018543 - Q8TCZ9:p.Tyr1136Cys chr6 52001022 52001025 VAR_018544 - Q8TCZ9:p.Ala1150Pro chr6 52000601 52000604 VAR_014047 - Q8TCZ9:p.Cys1204Tyr chr6 51998819 51998822 VAR_014048 - Q8TCZ9:p.Cys1249Trp chr6 51998780 51998783 VAR_014049 - Q8TCZ9:p.Ala1262Val chr6 51998717 51998720 VAR_018545 - Q8TCZ9:p.Ser1283Leu chr6 51998399 51998402 VAR_018546 - Q8TCZ9:p.Pro1389Thr chr6 51998345 51998348 VAR_014050 - Q8TCZ9:p.Leu1407Arg chr6 51998150 51998153 VAR_018547 - Q8TCZ9:p.Cys1472Tyr chr6 51998108 51998111 VAR_018548 - Q8TCZ9:p.Pro1486Leu chr6 51997814 51997817 VAR_018549 - Q8TCZ9:p.Ser1584Ile chr6 51997694 51997697 VAR_014051 - Q8TCZ9:p.Arg1624Trp chr6 51997574 51997577 VAR_014052 - Q8TCZ9:p.Ser1664Phe chr6 51997439 51997442 VAR_018550 - Q8TCZ9:p.Leu1709Phe chr6 51997343 51997346 VAR_014053 - Q8TCZ9:p.Val1741Met chr6 51995594 51995597 VAR_018551 - Q8TCZ9:p.Thr1781Ile chr6 51995570 51995573 VAR_018552 - Q8TCZ9:p.Val1789Leu chr6 51990348 51990351 VAR_036231 - Q8TCZ9:p.Glu1806Lys chr6 51990267 51990270 VAR_018553 - Q8TCZ9:p.Ser1833Leu chr6 51990252 51990255 VAR_018554 - Q8TCZ9:p.Tyr1838Cys chr6 51983206 51983209 VAR_018556 - Q8TCZ9:p.Leu1870Val chr6 51983065 51983068 VAR_014054 - Q8TCZ9:p.Gln1917Arg chr6 51932708 51932711 VAR_018557 - Q8TCZ9:p.Asp1942Gly chr6 51907074 51907077 VAR_018558 - Q8TCZ9:p.Gly1971Asp chr6 51907002 51907005 VAR_014055 - Q8TCZ9:p.Glu1995Gly chr6 51906993 51906996 VAR_018559 - Q8TCZ9:p.Ile1998Thr chr6 51906891 51906894 VAR_018560 - Q8TCZ9:p.Val2032Leu chr6 51884643 51884646 VAR_018561 - Q8TCZ9:p.Leu2134Pro chr6 51876440 51876443 VAR_018562 - Q8TCZ9:p.Ile2303Phe chr6 51876356 51876359 VAR_014056 - Q8TCZ9:p.Ile2331Lys chr6 51855933 51855936 VAR_018563 - Q8TCZ9:p.Cys2422Gly chr6 51828715 51828718 VAR_018564 - Q8TCZ9:p.Ala2615Gly chr6 51820715 51820718 VAR_018565 - Q8TCZ9:p.Thr2641Ala chr6 51820574 51820577 VAR_018566 - Q8TCZ9:p.Cys2688Phe chr6 51803636 51803639 VAR_018567 - Q8TCZ9:p.Asp2761Tyr chr6 51764116 51764119 VAR_018568 - Q8TCZ9:p.Leu2772Pro chr6 51745517 51745520 VAR_018569 - Q8TCZ9:p.Ser2861Gly chr6 51745511 51745514 VAR_018570 - Q8TCZ9:p.Tyr2863Cys chr6 51745493 51745496 VAR_018571 - Q8TCZ9:p.Thr2869Lys chr6 51726093 51726096 VAR_014057 - Q8TCZ9:p.Thr2938Met chr6 51726036 51726039 VAR_014058 - Q8TCZ9:p.Ile2957Thr chr6 51726021 51726024 VAR_018572 - Q8TCZ9:p.Asp2962Gly chr6 51725958 51725961 VAR_018573 - Q8TCZ9:p.Ser2983Leu chr6 51721318 51721321 VAR_014059 - Q8TCZ9:p.Ser3018Phe chr6 51721264 51721267 VAR_018574 - Q8TCZ9:p.Val3036Gly chr6 51721216 51721219 VAR_027440 - Q8TCZ9:p.Asp3052Tyr chr6 51721156 51721159 VAR_018575 - Q8TCZ9:p.Ala3072Val chr6 51721129 51721132 VAR_018576 - Q8TCZ9:p.Ile3081Val chr6 51721108 51721111 VAR_018577 - Q8TCZ9:p.Asp3088Asn chr6 51721051 51721054 VAR_018578 - Q8TCZ9:p.Arg3107Pro chr6 51721000 51721003 VAR_018579 - Q8TCZ9:p.His3124Tyr chr6 51720955 51720958 VAR_014060 - Q8TCZ9:p.Asp3139Tyr chr6 51720943 51720946 VAR_018580 - Q8TCZ9:p.Arg3143Ile chr6 51720871 51720874 VAR_018581 - Q8TCZ9:p.Ile3167Leu chr6 51720847 51720850 VAR_018582 - Q8TCZ9:p.Asn3175Asp chr6 51720847 51720850 VAR_018583 - Q8TCZ9:p.Asn3175Ser chr6 51720841 51720844 VAR_018584 - Q8TCZ9:p.Ile3177Thr chr6 51719608 51719611 VAR_018585 - Q8TCZ9:p.Ser3289Ile chr6 51719596 51719599 VAR_018586 - Q8TCZ9:p.Asp3293Val chr6 51717259 51717262 VAR_018587 - Q8TCZ9:p.Cys3346Arg chr6 51632562 51632565 VAR_018588 - Q8TCZ9:p.Val3440Asp chr6 51632478 51632481 VAR_018589 - Q8TCZ9:p.Ile3468Val chr6 51632469 51632472 VAR_018590 - Q8TCZ9:p.Val3471Gly chr6 51632436 51632439 VAR_018591 - Q8TCZ9:p.Arg3482Cys chr6 51632376 51632379 VAR_018592 - Q8TCZ9:p.Glu3502Val chr6 51632367 51632370 VAR_018593 - Q8TCZ9:p.Ser3505Arg chr6 51632295 51632298 VAR_018594 - Q8TCZ9:p.Glu3529Gln chr6 51632229 51632232 VAR_018595 - Q8TCZ9:p.Glu3551Lys chr6 51632223 51632226 VAR_014061 - Q8TCZ9:p.Ile3553Thr chr6 51632016 51632019 VAR_018596 - Q8TCZ9:p.Cys3622Tyr chr6 51620836 51620839 VAR_018597 - Q8TCZ9:p.Pro3783Ser chr6 51605475 51605478 VAR_027441 - Q8TCZ9:p.Val3837Ile chr6 51605460 51605463 VAR_018598 - Q8TCZ9:p.Arg3842Leu chr6 51599841 51599844 VAR_018599 - Q8TCZ9:p.Gln3899Arg chr6 51599823 51599826 VAR_027442 - Q8TCZ9:p.Ile3905Asn chr6 51599799 51599802 VAR_027443 - Q8TCZ9:p.Arg3913His chr6 51592182 51592185 VAR_014062 - Q8TCZ9:p.Val3960Ile chr6 51591918 51591921 VAR_014063 - Q8TCZ9:p.Gln4048Arg chr19 44605277 44605280 VAR_035324 + Q9H7P9:p.Thr540Ile chr12 6291755 6291758 VAR_036710 + Q3KR16:p.Ala35Thr chr14 67093771 67093774 VAR_037094 + Q9ULM0:p.Asn75Ser chr14 67093885 67093888 VAR_037095 + Q9ULM0:p.Gln113Leu chr14 67099064 67099067 VAR_037096 + Q9ULM0:p.Arg322Gln chr14 67105631 67105634 VAR_037097 + Q9ULM0:p.Thr430Ala chr14 67105655 67105658 VAR_037098 + Q9ULM0:p.Met438Val chr14 67112325 67112328 VAR_037099 + Q9ULM0:p.His735Arg chr2 43839188 43839191 VAR_035344 + Q8IVE3:p.Pro481Thr chr2 43879816 43879819 VAR_035345 + Q8IVE3:p.Arg1069Lys chr2 43884748 43884751 VAR_035346 + Q8IVE3:p.Asn1217Ser chr8 110481584 110481587 VAR_038760 + Q86WI1:p.Trp373Cys chr8 110482937 110482940 VAR_038761 + Q86WI1:p.Tyr440His chr8 110506558 110506561 VAR_038762 + Q86WI1:p.His923Arg chr8 110506618 110506621 VAR_038763 + Q86WI1:p.Tyr943His chr8 110508429 110508432 VAR_038764 + Q86WI1:p.Ala957Glu chr8 110517810 110517813 VAR_038765 + Q86WI1:p.Thr1192Ala chr8 110524496 110524499 VAR_038766 + Q86WI1:p.Arg1514Ser chr8 110525130 110525133 VAR_038767 + Q86WI1:p.Thr1539Arg chr8 110561013 110561016 VAR_038769 + Q86WI1:p.His3050Gln chr8 110561454 110561457 VAR_038770 + Q86WI1:p.Val3080Ile chr8 110573393 110573396 VAR_038771 + Q86WI1:p.Ile3411Val chr8 110580166 110580169 VAR_038772 + Q86WI1:p.Asp3607Glu chr8 110596604 110596607 VAR_038773 + Q86WI1:p.Leu3862Phe chr8 110608361 110608364 VAR_038774 + Q86WI1:p.Val4220Ile chr1 949303 949306 VAR_036946 + Q494U1:p.Arg539Pro chr15 62944534 62944537 VAR_036964 + Q8TD55:p.Pro290Ser chr19 14418315 14418318 VAR_042337 + Q16512:p.Arg185Cys chr19 14418351 14418354 VAR_042338 + Q16512:p.Ala197Glu chr19 14430073 14430076 VAR_042339 + Q16512:p.Arg436Trp chr19 14435701 14435704 VAR_042340 + Q16512:p.Arg520Gln chr19 14435896 14435899 VAR_042341 + Q16512:p.Leu555Ile chr19 14439705 14439708 VAR_042342 + Q16512:p.Arg635Gln chr19 14441327 14441329 VAR_042343 + Q16512:p.Ile718Val chr19 14441563 14441564 VAR_042343 + Q16512:p.Ile718Val chr19 14442654 14442657 VAR_042344 + Q16512:p.Phe873Leu chr19 14443467 14443470 VAR_014937 + Q16512:p.Val901Ile chr19 14443527 14443530 VAR_042345 + Q16512:p.Ala921Val chr21 43314553 43314556 VAR_036440 + P55347:p.Val265Ile chr11 124806417 124806420 VAR_027500 + Q96KN3:p.447del chr1 198013989 198013992 VAR_033526 + Q13835:p.Arg116His chr1 198014124 198014127 VAR_033527 + Q13835:p.Cys161Tyr chr1 198014229 198014232 VAR_033528 + Q13835:p.Ile196Val chr12 32922660 32922663 VAR_021148 - Q99959:p.Ser140Phe chr12 32866793 32866796 VAR_021149 - Q99959:p.Ser615Phe chr12 32866676 32866679 VAR_021150 - Q99959:p.Lys654Gln chr12 32840410 32840413 VAR_021151 - Q99959:p.Cys796Arg chr2 68784721 68784724 VAR_024261 + Q8TCW9:p.Ser40Gly chr20 5242760 5242763 VAR_030957 - Q8NFJ6:p.Arg85Cys chr20 5242760 5242763 VAR_030958 - Q8NFJ6:p.Arg85His chr20 5231348 5231351 VAR_030959 - Q8NFJ6:p.Arg164Gln chr20 5231321 5231324 VAR_030960 - Q8NFJ6:p.Leu173Arg chr20 5231306 5231309 VAR_030961 - Q8NFJ6:p.Trp178Ser chr20 5231210 5231213 VAR_030962 - Q8NFJ6:p.Gln210Arg chr20 5231036 5231039 VAR_030963 - Q8NFJ6:p.Arg268Cys chr20 5230970 5230973 VAR_030964 - Q8NFJ6:p.Pro290Ser chr20 5230871 5230874 VAR_030965 - Q8NFJ6:p.Met323Ile chr20 5230847 5230850 VAR_030966 - Q8NFJ6:p.Val331Met chr20 5230835 5230838 VAR_030967 - Q8NFJ6:p.Thr335Met chr3 120799516 120799519 VAR_030126 + Q53H76:p.Ser23Ile chr3 120810358 120810361 VAR_030127 + Q53H76:p.Arg110His chr3 120819650 120819653 VAR_030128 + Q53H76:p.Ser284Asn chr2 160726858 160726861 VAR_037203 - Q13018:p.Arg142Gln chr2 160724178 160724181 VAR_037204 - Q13018:p.Pro177Ser chr2 160714980 160714983 VAR_037205 - Q13018:p.Ile279Val chr2 160710946 160710949 VAR_037206 - Q13018:p.Met292Val chr2 160710922 160710925 VAR_037207 - Q13018:p.His300Asp chr2 160704764 160704767 VAR_037208 - Q13018:p.Arg404His chr2 160633579 160633582 VAR_037209 - Q13018:p.Gly1106Ser chr8 57241484 57241487 VAR_033212 - Q6DJT9:p.Pro458Thr chr20 8693793 8693796 VAR_036547 + Q9NQ66:p.Ala907Pro chr11 63783213 63783216 VAR_029229 + Q01970:p.Arg483His chr9 136847333 136847336 VAR_017328 - O15120:p.Gly136Arg chr9 136847321 136847324 VAR_017326 - O15120:p.140del chr9 136844193 136844196 VAR_017327 - O15120:p.Leu228Pro chr9 136844160 136844163 VAR_017325 - O15120:p.Ala239Val chr10 95882118 95882121 VAR_031843 + Q9P212:p.Ser469Thr chr10 95921075 95921078 VAR_031844 + Q9P212:p.Arg548Leu chr10 96020292 96020295 VAR_029883 + Q9P212:p.Ser1484Leu chr10 96029585 96029588 VAR_031845 + Q9P212:p.Arg1575Pro chr10 96048286 96048289 VAR_031846 + Q9P212:p.Thr1777Ile chr10 96056329 96056332 VAR_031847 + Q9P212:p.His1927Arg chr8 6569807 6569810 VAR_022696 + Q9NUQ2:p.Tyr77Cys chr20 39224722 39224725 VAR_025213 + P19174:p.Thr209Asn chr20 39225476 39225479 VAR_022130 + P19174:p.Ser279Gly chr20 39228826 39228829 VAR_025214 + P19174:p.Ser739Thr chr20 39230877 39230880 VAR_011908 + P19174:p.Ile813Thr chr3 172938396 172938399 VAR_034387 - Q13393:p.Pro49Ala chr3 172887177 172887180 VAR_022056 - Q13393:p.Ala622Ser chr3 172845484 172845487 VAR_022057 - Q13393:p.Val820Met chr17 4669799 4669802 VAR_036503 + O14939:p.Gln807Glu chr1 44935408 44935411 VAR_021091 + Q9H4B4:p.Thr61Ser chr1 44935429 44935432 VAR_021092 + Q9H4B4:p.Leu68Phe chr1 44937816 44937819 VAR_021093 + Q9H4B4:p.Leu283Phe chr1 44939207 44939210 VAR_021094 + Q9H4B4:p.Arg483Cys chr1 44939252 44939255 VAR_021095 + Q9H4B4:p.Ser498Leu chr1 44940353 44940356 VAR_021096 + Q9H4B4:p.Ser618Pro chr4 129162231 129162234 VAR_041027 + O00444:p.Tyr86Cys chr4 129164565 129164568 VAR_041028 + O00444:p.Arg146His chr4 129164805 129164808 VAR_041029 + O00444:p.Ala226Thr chr4 129164823 129164826 VAR_019632 + O00444:p.Ser232Thr chr4 129165078 129165081 VAR_041030 + O00444:p.Pro317Leu chr4 129165474 129165477 VAR_041031 + O00444:p.Asn449Asp chr4 129168720 129168723 VAR_041032 + O00444:p.Trp519Ser chr4 129172566 129172569 VAR_041033 + O00444:p.Glu830Asp chr6 161097911 161097914 VAR_018657 + P00747:p.Lys38Glu chr6 161097935 161097938 VAR_011779 + P00747:p.Ile46Arg chr6 161097968 161097971 VAR_016287 + P00747:p.Glu57Lys chr6 161102623 161102626 VAR_016288 + P00747:p.His133Gln chr6 161102626 161102629 VAR_033653 + P00747:p.Arg134Lys chr6 161104459 161104462 VAR_018658 + P00747:p.Leu147Pro chr6 161108121 161108124 VAR_018659 + P00747:p.Arg235His chr6 161108199 161108202 VAR_016289 + P00747:p.Arg261His chr6 161113873 161113876 VAR_006627 + P00747:p.Val374Phe chr6 161113975 161113978 VAR_016290 + P00747:p.Arg408Trp chr6 161122593 161122596 VAR_011780 + P00747:p.Lys453Ile chr6 161122650 161122653 VAR_016291 + P00747:p.Asp472Asn chr6 161123228 161123231 VAR_016292 + P00747:p.Ala494Val chr6 161123315 161123318 VAR_016293 + P00747:p.Arg523Trp chr6 161125443 161125446 VAR_018660 + P00747:p.Arg532His chr6 161128418 161128421 VAR_006628 + P00747:p.Ser591Pro chr6 161130035 161130038 VAR_006629 + P00747:p.Ala620Thr chr6 161132760 161132763 VAR_031213 + P00747:p.Val676Asp chr6 161143682 161143685 VAR_006630 + P00747:p.Gly751Arg chr1 11944125 11944128 VAR_032754 + Q02809:p.Glu67Asp chr1 11944176 11944179 VAR_032755 + Q02809:p.Ala84Thr chr1 11944221 11944224 VAR_014220 + Q02809:p.Ala99Thr chr1 11944734 11944737 VAR_032756 + Q02809:p.Ala120Ser chr1 11944743 11944746 VAR_035479 + Q02809:p.Gln123His chr1 11957855 11957870 VAR_009269 + Q02809:p.367_371del chr1 11958973 11958976 VAR_023466 + Q02809:p.Trp446Gly chr1 11960582 11960585 VAR_006354 + Q02809:p.532del chr1 11965070 11965073 VAR_006355 + Q02809:p.Trp612Cys chr1 11967290 11967293 VAR_023467 + Q02809:p.Ala667Thr chr1 11968978 11968981 VAR_006356 + Q02809:p.Gly678Arg chr1 11969062 11969065 VAR_023468 + Q02809:p.His706Arg chr3 147271899 147271902 VAR_022164 - O00469:p.Arg598His chr3 147271890 147271893 VAR_022165 - O00469:p.Gly601Val chr3 147271869 147271872 VAR_022166 - O00469:p.Thr608Ile chr7 100449578 100449581 VAR_012075 - O60568:p.Arg286Trp chrX 48786126 48786129 VAR_011924 + Q04941:p.Ala91Ser chr11 812492 812495 VAR_032995 + Q96AD5:p.Pro195Leu chr11 812564 812567 VAR_032996 + Q96AD5:p.Leu219Phe chr11 813583 813586 VAR_032997 + Q96AD5:p.Asn252Lys chr11 814787 814790 VAR_032998 + Q96AD5:p.Leu481Pro chrX 7703752 7703755 VAR_028068 - P41247:p.Val48Gly chrX 7699498 7699501 VAR_028069 - P41247:p.Asp134Gly chrX 7679834 7679837 VAR_028070 - P41247:p.Arg187Gln chr22 42611848 42611851 VAR_032932 - Q7Z6Z6:p.Leu140Phe chr22 42610211 42610214 VAR_032933 - Q7Z6Z6:p.Thr200Ile chr22 42607174 42607177 VAR_032934 - Q7Z6Z6:p.Trp286Arg chr13 45631117 45631120 VAR_001371 - P13796:p.Asp24Glu chr13 45603068 45603071 VAR_030826 - P13796:p.Pro544Ala chr3 48426422 48426425 VAR_036074 - O43157:p.Asp1891Val chrX 152556644 152556647 VAR_019681 + Q9ULL4:p.Val598Ile chrX 152562389 152562392 VAR_019682 + Q9ULL4:p.Met1535Thr chr3 130775951 130775954 VAR_022144 - Q9Y4D7:p.Met870Val chr1 153015244 153015247 VAR_034147 + Q6P1K2:p.Gln75Arg chr1 153019191 153019194 VAR_034148 + Q6P1K2:p.Met137Ile chr16 70742127 70742130 VAR_035042 - Q8TBY8:p.Ala172Thr chr16 70742064 70742067 VAR_035043 - Q8TBY8:p.Glu193Lys chr16 70727907 70727910 VAR_035044 - Q8TBY8:p.Arg381Leu chr16 70720480 70720483 VAR_035045 - Q8TBY8:p.Lys650Thr chr1 46372326 46372329 VAR_023101 - Q8WZA1:p.Glu223Lys chr1 46372245 46372248 VAR_030645 - Q8WZA1:p.Glu250Val chr1 46372049 46372052 VAR_023102 - Q8WZA1:p.Arg265His chr1 46372037 46372040 VAR_023103 - Q8WZA1:p.Cys269Tyr chr1 46371563 46371566 VAR_023104 - Q8WZA1:p.Arg311Gln chr1 46370218 46370221 VAR_023105 - Q8WZA1:p.Trp425Ser chr1 46370086 46370089 VAR_023106 - Q8WZA1:p.Arg442Cys chr1 46369858 46369861 VAR_023107 - Q8WZA1:p.Cys490Tyr chr1 46369849 46369852 VAR_023108 - Q8WZA1:p.Pro493Arg chr1 46369816 46369819 VAR_030646 - Q8WZA1:p.Val504Ile chr16 8799264 8799267 VAR_022469 + O15305:p.Cys9Tyr chr16 8799270 8799273 VAR_022470 + O15305:p.Phe11Cys chr16 8799282 8799285 VAR_022471 + O15305:p.Gly15Glu chr16 8799297 8799300 VAR_022472 + O15305:p.Pro20Ser chr16 8803183 8803186 VAR_022473 + O15305:p.Leu32Arg chr16 8803198 8803201 VAR_022474 + O15305:p.Gln37His chr16 8803198 8803201 VAR_022133 + O15305:p.Gln37Leu chr16 8803213 8803216 VAR_022475 + O15305:p.Gly42Arg chr16 8803219 8803222 VAR_006093 + O15305:p.Val44Ala chr16 8803219 8803222 VAR_022563 + O15305:p.Val44Leu chr16 8806135 8806138 VAR_022476 + O15305:p.Tyr64Cys chr16 8806138 8806141 VAR_006094 + O15305:p.Asp65Tyr chr16 8806144 8806147 VAR_022477 + O15305:p.Val67Met chr16 8806150 8806153 VAR_022478 + O15305:p.Pro69Ser chr16 8806171 8806174 VAR_022479 + O15305:p.Tyr76Cys chr16 8807694 8807697 VAR_022480 + O15305:p.Glu93Ala chr16 8807718 8807721 VAR_006095 + O15305:p.Asn101Lys chr16 8807724 8807727 VAR_022481 + O15305:p.Cys103Phe chr16 8807727 8807730 VAR_012344 + O15305:p.Leu104Val chr16 8807733 8807736 VAR_006096 + O15305:p.Tyr106Cys chr16 8807739 8807742 VAR_006097 + O15305:p.Ala108Val chr16 8807754 8807757 VAR_006098 + O15305:p.Pro113Leu chr16 8812437 8812440 VAR_006099 + O15305:p.Gly117Arg chr16 8812443 8812446 VAR_006100 + O15305:p.Phe119Leu chr16 8812446 8812449 VAR_022482 + O15305:p.Ile120Thr chr16 8812455 8812458 VAR_006101 + O15305:p.Arg123Gln chr16 8812473 8812476 VAR_006102 + O15305:p.Val129Met chr16 8812479 8812482 VAR_006103 + O15305:p.Pro131Ala chr16 8812482 8812485 VAR_022483 + O15305:p.Ile132Phe chr16 8812482 8812485 VAR_022484 + O15305:p.Ile132Asn chr16 8812482 8812485 VAR_006104 + O15305:p.Ile132Thr chr16 8812503 8812506 VAR_009232 + O15305:p.Glu139Lys chr16 8812509 8812512 VAR_022485 + O15305:p.Arg141Cys chr16 8812509 8812512 VAR_006105 + O15305:p.Arg141His chr16 8812518 8812521 VAR_022486 + O15305:p.Phe144Leu chr16 8812530 8812533 VAR_022487 + O15305:p.Asp148Asn chr16 8812998 8813001 VAR_022488 + O15305:p.Glu151Gly chr16 8813004 8813007 VAR_022489 + O15305:p.Ile153Thr chr16 8813016 8813019 VAR_022490 + O15305:p.Phe157Ser chr16 8813031 8813034 VAR_006106 + O15305:p.Arg162Trp chr16 8813061 8813064 VAR_022491 + O15305:p.Phe172Val chr16 8813070 8813071 VAR_006107 + O15305:p.Gly175Arg chr16 8814348 8814350 VAR_006107 + O15305:p.Gly175Arg chr16 8814350 8814353 VAR_022492 + O15305:p.Gly176Val chr16 8814353 8814356 VAR_022493 + O15305:p.Gln177His chr16 8814371 8814374 VAR_022494 + O15305:p.Phe183Ser chr16 8814377 8814380 VAR_022495 + O15305:p.Asp185Gly chr16 8814386 8814389 VAR_006108 + O15305:p.Asp188Gly chr16 8814398 8814401 VAR_022496 + O15305:p.Cys192Gly chr16 8814407 8814410 VAR_022497 + O15305:p.His195Arg chr16 8814413 8814416 VAR_022498 + O15305:p.Glu197Ala chr16 8814440 8814443 VAR_022499 + O15305:p.Phe206Ser chr16 8814446 8814449 VAR_006109 + O15305:p.Gly208Ala chr16 8814458 8814461 VAR_022134 + O15305:p.Met212Val chr16 8849081 8849084 VAR_022500 + O15305:p.Gly214Ser chr16 8849087 8849090 VAR_006110 + O15305:p.Asn216Ile chr16 8849087 8849090 VAR_022501 + O15305:p.Asn216Ser chr16 8849090 8849093 VAR_022502 + O15305:p.Asp217Glu chr16 8849093 8849096 VAR_022503 + O15305:p.His218Leu chr16 8849108 8849111 VAR_006111 + O15305:p.Asp223Glu chr16 8849108 8849111 VAR_022504 + O15305:p.Asp223Asn chr16 8849117 8849120 VAR_022505 + O15305:p.Thr226Ser chr16 8849123 8849126 VAR_022506 + O15305:p.Gly228Cys chr16 8849123 8849126 VAR_022507 + O15305:p.Gly228Arg chr16 8849126 8849129 VAR_006112 + O15305:p.Tyr229Ser chr16 8849132 8849135 VAR_006113 + O15305:p.Val231Met chr16 8849138 8849141 VAR_006114 + O15305:p.Ala233Thr chr16 8849150 8849153 VAR_006115 + O15305:p.Thr237Met chr16 8849150 8849153 VAR_022508 + O15305:p.Thr237Arg chr16 8849153 8849156 VAR_022509 + O15305:p.Arg238Gly chr16 8849153 8849156 VAR_006116 + O15305:p.Arg238Pro chr16 8849162 8849165 VAR_022510 + O15305:p.Cys241Ser chr17 15104733 15104736 VAR_006359 - Q01453:p.His12Gln chr17 15104721 15104724 VAR_006360 - Q01453:p.Leu16Pro chr17 15104712 15104715 VAR_006361 - Q01453:p.Leu19Pro chr17 15104703 15104706 VAR_029960 - Q01453:p.Ser22Phe chr17 15104700 15104703 VAR_029961 - Q01453:p.Thr23Arg chr17 15104691 15104697 VAR_029962 - Q01453:p.25_26del chr17 15103229 15103232 VAR_029963 - Q01453:p.Trp28Arg chr17 15103223 15103226 VAR_009659 - Q01453:p.Val30Met chr17 15103202 15103205 VAR_009660 - Q01453:p.Asp37Val chr17 15083636 15083639 VAR_029964 - Q01453:p.Val65Phe chr17 15083630 15083633 VAR_009661 - Q01453:p.Ala67Pro chr17 15083630 15083633 VAR_029965 - Q01453:p.Ala67Thr chr17 15083624 15083627 VAR_006362 - Q01453:p.Met69Lys chr17 15083618 15083621 VAR_029966 - Q01453:p.Leu71Pro chr17 15083615 15083618 VAR_006363 - Q01453:p.Ser72Leu chr17 15083615 15083618 VAR_006364 - Q01453:p.Ser72Pro chr17 15083615 15083618 VAR_006365 - Q01453:p.Ser72Trp chr17 15083603 15083606 VAR_006366 - Q01453:p.Ser76Ile chr17 15083594 15083597 VAR_006367 - Q01453:p.Ser79Cys chr17 15083594 15083597 VAR_006368 - Q01453:p.Ser79Pro chr17 15083591 15083594 VAR_006369 - Q01453:p.Leu80Pro chr17 15083591 15083594 VAR_029967 - Q01453:p.Leu80Arg chr17 15083579 15083582 VAR_006370 - Q01453:p.84del chr17 15083552 15083555 VAR_009662 - Q01453:p.Gly93Arg chr17 15083531 15083534 VAR_006371 - Q01453:p.Gly100Glu chr17 15083531 15083534 VAR_006372 - Q01453:p.Gly100Arg chr17 15083516 15083519 VAR_006373 - Q01453:p.Leu105Arg chr17 15075114 15075117 VAR_029968 - Q01453:p.Cys109Arg chr17 15075087 15075099 VAR_029969 - Q01453:p.115_118del chr17 15075087 15075090 VAR_006375 - Q01453:p.Thr118Met chr17 15075030 15075033 VAR_006376 - Q01453:p.Ile137Val chr17 15075000 15075003 VAR_006377 - Q01453:p.Leu147Arg chr17 15074994 15074997 VAR_029970 - Q01453:p.Ser149Arg chr17 15074991 15074994 VAR_006378 - Q01453:p.Gly150Cys chr17 15074991 15074994 VAR_006379 - Q01453:p.Gly150Asp chr17 15074970 15074973 VAR_009663 - Q01453:p.Arg157Gly chr17 15074970 15074973 VAR_009664 - Q01453:p.Arg157Trp chr2 190482119 190482122 VAR_019166 + P54277:p.Glu27Gln chr2 190534216 190534219 VAR_014877 + P54277:p.Arg202Lys chr2 190544683 190544686 VAR_012967 + P54277:p.Met394Thr chr2 190545004 190545007 VAR_012968 + P54277:p.Gly501Arg chr2 190554011 190554014 VAR_014878 + P54277:p.Asn632Ser chr2 190554275 190554278 VAR_014879 + P54277:p.Glu720Asp chr2 190558064 190558067 VAR_014880 + P54277:p.Tyr793His chr7 5818866 5818869 VAR_004469 - P54278:p.Arg20Gln chr7 5808477 5808480 VAR_016133 - P54278:p.Thr277Lys chr7 5800226 5800229 VAR_016134 - P54278:p.Pro470Ser chr7 5800199 5800202 VAR_012969 - P54278:p.His479Gln chr7 5800181 5800184 VAR_012970 - P54278:p.Thr485Lys chr7 5800103 5800106 VAR_012971 - P54278:p.Thr511Ala chr7 5799845 5799848 VAR_012972 - P54278:p.Thr597Ser chr7 5799770 5799773 VAR_012973 - P54278:p.Met622Ile chr7 5795754 5795757 VAR_012974 - P54278:p.Glu705Lys chr7 5790579 5790582 VAR_016135 - P54278:p.Asn775Ser chr19 55062213 55062216 VAR_019260 - Q96T60:p.Pro20Ser chr19 55061476 55061479 VAR_019261 - Q96T60:p.Ala63Val chr19 55059430 55059433 VAR_019262 - Q96T60:p.Arg180Ser chr19 55059295 55059298 VAR_019263 - Q96T60:p.Tyr196Asn chr19 55056531 55056534 VAR_019264 - Q96T60:p.Val478Gly chr17 35078278 35078281 VAR_029351 + P11086:p.Asn9Ser chr17 35079496 35079499 VAR_036829 + P11086:p.Thr98Ala chr17 35079538 35079541 VAR_036830 + P11086:p.Arg112Cys chr17 35079841 35079844 VAR_036831 + P11086:p.Ala175Thr chr17 35079880 35079883 VAR_037611 + P11086:p.Ser188Cys chr17 35079949 35079952 VAR_037612 + P11086:p.Leu211His chr17 35079967 35079970 VAR_037613 + P11086:p.Leu217Gln chr17 35080078 35080081 VAR_037614 + P11086:p.Arg254His chr17 35080144 35080147 VAR_024547 + P11086:p.Trp276Arg chr2 68296747 68296750 VAR_029814 + Q9NRX1:p.Arg11Gly chr2 68297165 68297168 VAR_029815 + Q9NRX1:p.Gly71Ala chr14 20010445 20010448 VAR_002243 + P00491:p.Gly51Ser chr14 20012553 20012556 VAR_002244 + P00491:p.Glu89Lys chr14 20012867 20012870 VAR_002245 + P00491:p.Asp128Gly chr14 20013118 20013121 VAR_002246 + P00491:p.Ala174Pro chr14 20013172 20013175 VAR_010653 + P00491:p.Tyr192Cys chr14 20014429 20014432 VAR_002247 + P00491:p.Arg234Pro chr17 43375679 43375682 VAR_029358 + Q9NVS9:p.Glu50Lys chr17 43377062 43377065 VAR_029359 + Q9NVS9:p.Arg116Gln chr17 43379045 43379048 VAR_029360 + Q9NVS9:p.Arg229Trp chr2 55823768 55823771 VAR_027787 - Q8TCS8:p.Ile121Val chr2 55784186 55784189 VAR_027788 - Q8TCS8:p.Asn590Asp chr3 13396147 13396150 VAR_028147 - Q8TEM1:p.Ala297Thr chr3 13382553 13382556 VAR_028148 - Q8TEM1:p.Ile608Val chr3 13374784 13374787 VAR_028149 - Q8TEM1:p.Ala755Val chr3 13370577 13370580 VAR_026474 - Q8TEM1:p.Arg786Leu chr3 13370472 13370475 VAR_028150 - Q8TEM1:p.Pro821Ala chr3 13368381 13368384 VAR_028151 - Q8TEM1:p.Ala944Pro chr3 13356738 13356741 VAR_028152 - Q8TEM1:p.Met1096Ile chr3 13343933 13343936 VAR_028153 - Q8TEM1:p.Asp1430Glu chr3 13336389 13336392 VAR_026475 - Q8TEM1:p.Leu1752Ser chr3 13336284 13336287 VAR_026476 - Q8TEM1:p.Val1787Met chr1 164072859 164072862 VAR_035816 + P14859:p.Ser88Phe chrX 82570077 82570083 VAR_015261 + P49335:p.201_202del chrX 82570410 82570413 VAR_003782 + P49335:p.Ala312Val chrX 82570425 82570428 VAR_003783 + P49335:p.Leu317Trp chrX 82570443 82570446 VAR_003784 + P49335:p.Arg323Gly chrX 82570464 82570467 VAR_003785 + P49335:p.Arg330Ser chrX 82570476 82570479 VAR_003786 + P49335:p.Lys334Glu chr6 31240473 31240476 VAR_003774 - Q01860:p.Thr322Ala chr6 31240368 31240371 VAR_003775 - Q01860:p.Met357Leu chr7 39152542 39152545 VAR_022419 + P78424:p.Gln184His chr7 39152563 39152566 VAR_028410 + P78424:p.Pro191Leu chr7 39273480 39273483 VAR_028411 + P78424:p.Leu492Met chr7 39277363 39277366 VAR_028412 + P78424:p.Glu631Lys chr1 176276596 176276599 VAR_010231 - Q9NP85:p.Pro20Leu chr1 176262117 176262120 VAR_010233 - Q9NP85:p.Arg138Gln chr1 176260524 176260527 VAR_010234 - Q9NP85:p.Asp160Gly chr1 176258016 176258019 VAR_010235 - Q9NP85:p.Val180Met chr1 176253394 176253397 VAR_010236 - Q9NP85:p.Arg291Trp chrX 84407112 84407115 VAR_028753 - Q8WVV4:p.Pro207Ser chrX 84407016 84407019 VAR_028754 - Q8WVV4:p.Cys239Ser chrX 84375651 84375654 VAR_028755 - Q8WVV4:p.Glu296Ala chrX 84369355 84369358 VAR_028756 - Q8WVV4:p.Met323Val chrX 84369337 84369340 VAR_028757 - Q8WVV4:p.Arg329Gln chrX 84369277 84369280 VAR_028758 - Q8WVV4:p.Met349Leu chrX 84367346 84367349 VAR_028759 - Q8WVV4:p.Gln434Lys chrX 84367046 84367049 VAR_028760 - Q8WVV4:p.Cys444Tyr chr6 43673439 43673442 VAR_021226 + Q9Y253:p.75del chr18 50054337 50054340 VAR_021239 + Q9UNA4:p.Arg71Gly chr18 50061255 50061258 VAR_021240 + Q9UNA4:p.Ile236Met chr18 50063233 50063236 VAR_021241 + Q9UNA4:p.Glu251Lys chr18 50074031 50074034 VAR_021242 + Q9UNA4:p.His449Arg chr18 50074205 50074208 VAR_021243 + Q9UNA4:p.Phe507Ser chr18 50074289 50074292 VAR_021244 + Q9UNA4:p.Cys535Arg chr5 74928056 74928059 VAR_021246 + Q9UBT6:p.Thr595Ile chr5 74928107 74928110 VAR_021247 + Q9UBT6:p.Ile612Val chr5 74929335 74929338 VAR_021248 + Q9UBT6:p.Ser832Asn chr5 6803481 6803484 VAR_021175 + Q5XG87:p.Asn326Ser chr5 6804226 6804229 VAR_021176 + Q5XG87:p.Gly396Ser chr9 131411157 131411160 VAR_015734 + Q9Y6A1:p.Gly76Arg chr9 131414741 131414744 VAR_022661 + Q9Y6A1:p.Ala200Pro chr9 131416334 131416337 VAR_034391 + Q9Y6A1:p.Val327Ile chr9 131420385 131420388 VAR_022662 + Q9Y6A1:p.421del chr9 131420406 131420409 VAR_015735 + Q9Y6A1:p.Val428Asp chr9 131420421 131420424 VAR_034392 + Q9Y6A1:p.Asp433Glu chr9 131424385 131424388 VAR_026697 + Q9Y6A1:p.Ser537Arg chr14 76856615 76856618 VAR_022083 - Q9UKY4:p.Ala54Glu chr7 94641380 94641383 VAR_021082 - Q15166:p.Glu146Lys chr7 94637983 94637986 VAR_021083 - Q15166:p.Ala179Asp chr19 13909711 13909714 VAR_037151 - Q6PEZ8:p.Arg44Trp chr8 99232008 99232011 VAR_036232 + Q99575:p.Glu675Gln chr6 105680110 105680113 VAR_017155 - Q8NE79:p.Arg129Trp chrX 48125977 48125980 VAR_035089 + Q9H237:p.Gly60Arg chrX 48130707 48130710 VAR_035090 + Q9H237:p.Arg365Gly chr7 124063265 124063268 VAR_034393 - Q9NUX5:p.Val529Met chr12 46398206 46398209 VAR_014793 - P21128:p.Glu31Gln chr12 46398206 46398209 VAR_014794 - P21128:p.Glu31Val chr6 150556469 150556472 VAR_025547 + Q8TAE6:p.Thr10Ala chr18 9585074 9585077 VAR_017807 - Q8TF05:p.Glu43Lys chr18 9560317 9560320 VAR_017808 - Q8TF05:p.Ile470Val chr18 9552034 9552037 VAR_017809 - Q8TF05:p.Ser595Asn chr19 11548348 11548351 VAR_020602 - P13686:p.Val148Met chr19 11548192 11548195 VAR_020603 - P13686:p.Val200Met chr19 11548129 11548132 VAR_029288 - P13686:p.Val221Ile chr9 4652792 4652795 VAR_026645 + Q8IY26:p.Ser140Trp chr9 131212931 131212934 VAR_026646 + Q8NBV4:p.Thr174Met chr9 131213210 131213213 VAR_026647 + Q8NBV4:p.Leu267Val chr2 267001 267004 VAR_006171 + P24666:p.Gln106Arg chr11 47226829 47226832 VAR_027801 - P11117:p.Arg29Gln chr11 47221146 47221149 VAR_034394 - P11117:p.Ser320Phe chr22 44934687 44934690 VAR_016110 + Q07869:p.Arg127Gln chr22 44934792 44934795 VAR_016111 + Q07869:p.Leu162Val chr22 44936397 44936400 VAR_016112 + Q07869:p.Val227Ala chr22 44948297 44948300 VAR_016113 + Q07869:p.Ala268Val chr22 44948405 44948408 VAR_016114 + Q07869:p.Asp304Asn chr22 44951613 44951616 VAR_016115 + Q07869:p.Arg409Thr chr3 12368124 12368127 VAR_010723 + P37231:p.Pro12Ala chr3 12396237 12396240 VAR_016116 + P37231:p.Pro40Ala chr3 12397846 12397849 VAR_010724 + P37231:p.Pro113Gln chr3 12433322 12433325 VAR_010725 + P37231:p.Gln314Pro chr3 12433328 12433331 VAR_010726 + P37231:p.Arg316His chr3 12433334 12433337 VAR_010727 + P37231:p.Val318Met chr3 12433544 12433547 VAR_022700 + P37231:p.Phe388Leu chr3 12450398 12450401 VAR_022701 + P37231:p.Arg425Cys chr3 12450608 12450611 VAR_010728 + P37231:p.Pro495Leu chr2 233069089 233069092 VAR_017419 + P05187:p.Pro25Leu chr1 21625928 21625931 VAR_025903 + P05186:p.Ser17Phe chr1 21632444 21632447 VAR_013972 + P05186:p.Tyr28Cys chr1 21632459 21632462 VAR_006147 + P05186:p.Ala33Val chr1 21632480 21632483 VAR_011081 + P05186:p.Ala40Val chr1 21632513 21632516 VAR_025904 + P05186:p.Ala51Ser chr1 21632513 21632516 VAR_013973 + P05186:p.Ala51Val chr1 21632897 21632900 VAR_006148 + P05186:p.Met62Leu chr1 21632897 21632900 VAR_025905 + P05186:p.Met62Val chr1 21632900 21632903 VAR_025906 + P05186:p.Gly63Arg chr1 21632900 21632903 VAR_013974 + P05186:p.Gly63Val chr1 21632915 21632918 VAR_025907 + P05186:p.Thr68Met chr1 21632924 21632927 VAR_006149 + P05186:p.Arg71Cys chr1 21632924 21632927 VAR_013975 + P05186:p.Arg71His chr1 21632924 21632927 VAR_006150 + P05186:p.Arg71Pro chr1 21632924 21632927 VAR_025908 + P05186:p.Arg71Ser chr1 21632936 21632939 VAR_013976 + P05186:p.Gly75Ser chr1 21632939 21632942 VAR_025909 + P05186:p.Gln76Arg chr1 21634932 21634935 VAR_025910 + P05186:p.Pro108Leu chr1 21634941 21634944 VAR_006151 + P05186:p.Ala111Thr chr1 21634950 21634953 VAR_025911 + P05186:p.Ala114Gly chr1 21634956 21634959 VAR_013977 + P05186:p.Ala116Thr chr1 21634968 21634971 VAR_013978 + P05186:p.Gly120Arg chr1 21634992 21634995 VAR_025912 + P05186:p.Val128Met chr1 21634995 21634998 VAR_013979 + P05186:p.Gly129Arg chr1 21635004 21635007 VAR_013146 + P05186:p.Ala132Val chr1 21635010 21635013 VAR_025913 + P05186:p.Thr134His chr1 21635010 21635013 VAR_011082 + P05186:p.Thr134Asn chr1 21635016 21635019 VAR_006152 + P05186:p.Arg136His chr1 21635052 21635055 VAR_025914 + P05186:p.Thr148Ile chr1 21635064 21635067 VAR_013980 + P05186:p.Arg152His chr1 21635850 21635853 VAR_025915 + P05186:p.Gly162Ser chr1 21635850 21635853 VAR_006153 + P05186:p.Gly162Val chr1 21635874 21635877 VAR_013981 + P05186:p.Asn170Asp chr1 21635877 21635880 VAR_025916 + P05186:p.His171Arg chr1 21635877 21635880 VAR_006154 + P05186:p.His171Tyr chr1 21635892 21635895 VAR_011083 + P05186:p.Ala176Thr chr1 21635895 21635898 VAR_006155 + P05186:p.Ala177Thr chr1 21635901 21635904 VAR_006156 + P05186:p.Ala179Thr chr1 21635907 21635910 VAR_013982 + P05186:p.Ser181Leu chr1 21635916 21635919 VAR_013983 + P05186:p.Arg184Trp chr1 21635931 21635934 VAR_025917 + P05186:p.Asp189Glu chr1 21635937 21635940 VAR_006157 + P05186:p.Glu191Gly chr1 21635937 21635940 VAR_006158 + P05186:p.Glu191Lys chr1 21635967 21635970 VAR_006159 + P05186:p.Cys201Tyr chr1 21635985 21635988 VAR_006160 + P05186:p.Gln207Pro chr1 21635997 21636000 VAR_013984 + P05186:p.Asn211Asp chr1 21636000 21636003 VAR_025918 + P05186:p.Ile212Phe chr1 21639911 21639914 VAR_025919 + P05186:p.Gly220Ala chr1 21639911 21639914 VAR_013985 + P05186:p.Gly220Val chr1 21639920 21639923 VAR_025920 + P05186:p.Arg223Gln chr1 21639920 21639923 VAR_013986 + P05186:p.Arg223Trp chr1 21639923 21639926 VAR_011084 + P05186:p.Lys224Glu chr1 21639956 21639959 VAR_013987 + P05186:p.Glu235Gly chr1 21639989 21639992 VAR_011085 + P05186:p.Arg246Ser chr1 21639998 21640001 VAR_013988 + P05186:p.Gly249Val chr1 21640040 21640043 VAR_006161 + P05186:p.Tyr263His chr1 21642124 21642127 VAR_025921 + P05186:p.Arg272His chr1 21642124 21642127 VAR_025922 + P05186:p.Arg272Leu chr1 21642133 21642136 VAR_025923 + P05186:p.Leu275Pro chr1 21645465 21645468 VAR_006162 + P05186:p.Leu289Phe chr1 21645471 21645474 VAR_013989 + P05186:p.Glu291Lys chr1 21645474 21645477 VAR_025924 + P05186:p.Pro292Thr chr1 21645477 21645483 VAR_025925 + P05186:p.293_294del chr1 21645480 21645483 VAR_006163 + P05186:p.Asp294Ala chr1 21645480 21645483 VAR_013990 + P05186:p.Asp294Tyr chr1 21645483 21645486 VAR_025926 + P05186:p.Met295Thr chr1 21645489 21645492 VAR_025927 + P05186:p.Tyr297Asp chr1 21645492 21645495 VAR_025928 + P05186:p.Glu298Lys chr1 21645495 21645498 VAR_025929 + P05186:p.Leu299Pro chr1 21645516 21645519 VAR_006164 + P05186:p.Asp306Val chr1 21645531 21645534 VAR_025930 + P05186:p.Glu311Lys chr1 21645576 21645579 VAR_013991 + P05186:p.Gly326Arg chr1 21645579 21645582 VAR_013992 + P05186:p.Phe327Gly chr1 21645579 21645582 VAR_006165 + P05186:p.Phe327Leu chr1 21645579 21645582 VAR_025931 + P05186:p.327del chr1 21647533 21647536 VAR_006166 + P05186:p.Gly334Asp chr1 21647548 21647551 VAR_025932 + P05186:p.Gly339Arg chr1 21647575 21647578 VAR_011086 + P05186:p.Ala348Thr chr1 21647593 21647596 VAR_025933 + P05186:p.Glu354Asp chr1 21647665 21647668 VAR_006167 + P05186:p.Asp378Val chr1 21647674 21647677 VAR_011087 + P05186:p.His381Arg chr1 21647677 21647680 VAR_006168 + P05186:p.Val382Ile chr1 21647704 21647707 VAR_013993 + P05186:p.Arg391Cys chr1 21647704 21647707 VAR_025934 + P05186:p.Arg391His chr1 21648325 21648328 VAR_013994 + P05186:p.Ala399Ser chr1 21648346 21648349 VAR_011088 + P05186:p.Asp406Gly chr1 21648361 21648364 VAR_025935 + P05186:p.Thr411Ala chr1 21648370 21648373 VAR_025936 + P05186:p.Leu414Met chr1 21648379 21648382 VAR_025937 + P05186:p.Asn417Ser chr1 21648397 21648400 VAR_013995 + P05186:p.Val423Ala chr1 21648406 21648409 VAR_011089 + P05186:p.Gly426Cys chr1 21648406 21648409 VAR_025938 + P05186:p.Gly426Asp chr1 21648436 21648439 VAR_006169 + P05186:p.Tyr436His chr1 21649204 21649207 VAR_013996 + P05186:p.Ser445Pro chr1 21649219 21649222 VAR_013997 + P05186:p.Arg450Cys chr1 21649219 21649222 VAR_011090 + P05186:p.Arg450His chr1 21649225 21649228 VAR_025939 + P05186:p.Glu452Lys chr1 21649237 21649240 VAR_011091 + P05186:p.Gly456Arg chr1 21649246 21649249 VAR_013998 + P05186:p.Val459Met chr1 21649273 21649276 VAR_025940 + P05186:p.Ala468Thr chr1 21649288 21649291 VAR_013999 + P05186:p.Gly473Ser chr1 21649297 21649300 VAR_006170 + P05186:p.Glu476Lys chr1 21649303 21649306 VAR_011092 + P05186:p.Asn478Ile chr1 21649336 21649339 VAR_011093 + P05186:p.Cys489Ser chr1 21649339 21649342 VAR_014000 + P05186:p.Ile490Phe chr1 21649342 21649345 VAR_014001 + P05186:p.Gly491Arg chr1 21649435 21649438 VAR_011094 + P05186:p.Val522Ala chr20 55570035 55570038 VAR_021072 + P35558:p.Arg55Gln chr20 55570050 55570053 VAR_021073 + P35558:p.Met60Thr chr20 55571162 55571165 VAR_021074 + P35558:p.Thr138Ile chr20 55571300 55571303 VAR_021075 + P35558:p.Val184Leu chr20 55572026 55572029 VAR_015575 + P35558:p.Ile267Val chr20 55572053 55572056 VAR_021076 + P35558:p.Glu276Lys chr20 55572770 55572773 VAR_021077 + P35558:p.Val368Ile chr20 55573035 55573038 VAR_021078 + P35558:p.Pro427Ser chr20 55574152 55574155 VAR_042444 + P35558:p.Glu586Asp chr4 77168345 77168348 VAR_010230 - O14830:p.Ser120Arg chr20 43953758 43953761 VAR_001385 + P10619:p.Gln49Arg chr20 43953806 43953808 VAR_001386 + P10619:p.Trp65Arg chr20 43953961 43953962 VAR_001386 + P10619:p.Trp65Arg chr20 43954034 43954037 VAR_001387 + P10619:p.Ser90Leu chr20 43956085 43956088 VAR_001388 + P10619:p.Tyr249Asn chr20 43959780 43959783 VAR_001389 + P10619:p.Tyr395Cys chr20 43960113 43960116 VAR_001390 + P10619:p.Phe440Val chr12 41065013 41065016 VAR_036233 + Q8NEY8:p.Val173Met chr5 122387537 122387540 VAR_024319 - P45877:p.Asn190Ser chr4 160000178 160000181 VAR_021021 - Q08752:p.Arg49Cys chr4 159989593 159989596 VAR_021022 - Q08752:p.Leu302Ile chr4 159989403 159989406 VAR_021023 - Q08752:p.Gly335Glu chr2 201561671 201561674 VAR_023417 - Q9H2H8:p.Asp146Glu chr6 109859142 109859145 VAR_029620 - Q8IXY8:p.His110Arg chr15 75097856 75097859 VAR_023515 + O43586:p.Gln48His chr15 75104961 75104964 VAR_023516 + O43586:p.Glu106Lys chr15 75107967 75107970 VAR_023517 + O43586:p.Gln146His chr15 75107976 75107979 VAR_023518 + O43586:p.Arg149Leu chr15 75107982 75107985 VAR_023519 + O43586:p.Ala151Ser chr15 75107994 75107997 VAR_023520 + O43586:p.Glu155Asp chr15 75107997 75108000 VAR_023521 + O43586:p.Gln156His chr15 75110620 75110623 VAR_023522 + O43586:p.Ala230Thr chr15 75111699 75111702 VAR_023523 + O43586:p.Glu250Gln chr6 118986801 118986804 VAR_025989 + P26678:p.Arg9Cys chr6 118986816 118986819 VAR_025990 + P26678:p.14del chr22 20610076 20610079 VAR_036520 - P49593:p.Arg296Gln chr22 20602132 20602135 VAR_036521 - P49593:p.Gln417Lys chr22 20602123 20602126 VAR_024580 - P49593:p.Leu420Arg chr1 112967497 112967500 VAR_032566 - Q5JR12:p.Leu213Phe chr1 112967428 112967431 VAR_032567 - Q5JR12:p.Val236Ile chr4 89556632 89556635 VAR_030691 - Q8N3J5:p.Asn94Lys chr1 157950049 157950052 VAR_003686 + P50336:p.Arg59Trp chr1 157950972 157950975 VAR_003687 + P50336:p.Arg152Cys chr1 157951324 157951327 VAR_003688 + P50336:p.Arg168Cys chr1 157951932 157951935 VAR_003689 + P50336:p.Gly232Arg chr1 157952004 157952007 VAR_034395 + P50336:p.Pro256Arg chr1 157952809 157952812 VAR_003690 + P50336:p.Arg304His chr7 113152867 113152870 VAR_027929 - Q16821:p.Gly45Ser chr7 113152309 113152312 VAR_027930 - Q16821:p.Cys231Tyr chr7 113113435 113113438 VAR_036287 - Q16821:p.Gly554Ala chr7 113112853 113112856 VAR_027933 - Q16821:p.Glu748Lys chr7 113112448 113112451 VAR_019697 - Q16821:p.Arg883Ser chr7 113112382 113112385 VAR_019698 - Q16821:p.Asp905Tyr chr7 113112304 113112307 VAR_019699 - Q16821:p.Ala931Glu chr1 40231886 40231889 VAR_005548 - P50897:p.His39Gln chr1 40227171 40227174 VAR_005550 - P50897:p.Thr75Pro chr1 40226934 40226937 VAR_005551 - P50897:p.Asp79Gly chr1 40226847 40226850 VAR_018511 - P50897:p.Gly108Arg chr1 40226844 40226847 VAR_005552 - P50897:p.Tyr109Asp chr1 40226160 40226163 VAR_005553 - P50897:p.Arg122Trp chr1 40226124 40226127 VAR_005554 - P50897:p.Ile134Thr chr1 40224179 40224182 VAR_005555 - P50897:p.Gln177Glu chr1 40215245 40215248 VAR_005556 - P50897:p.Val181Leu chr1 40215245 40215248 VAR_005557 - P50897:p.Val181Met chr1 40213393 40213396 VAR_005558 - P50897:p.Leu219Gln chr1 40211663 40211666 VAR_005559 - P50897:p.Tyr247His chr1 40211654 40211657 VAR_005560 - P50897:p.Gly250Val chr6 32230361 32230364 VAR_027107 + Q9UMR5:p.Cys5Trp chr6 32230448 32230451 VAR_027108 + Q9UMR5:p.Ala34Glu chr18 75780254 75780257 VAR_035979 - Q8N2U9:p.Gly175Ala chr1 19389522 19389525 VAR_031409 + Q6ZP29:p.Ser16Asn chr1 12889251 12889254 VAR_029104 - O60809:p.Lys99Ile chr1 12889116 12889119 VAR_029105 - O60809:p.His144Arg chr1 12887519 12887522 VAR_029106 - O60809:p.Thr306Ala chr1 12887231 12887234 VAR_029107 - O60809:p.Gly402Arg chr1 12788795 12788798 VAR_034396 + O95521:p.Gln252Glu chr1 12789889 12789892 VAR_034397 + O95521:p.Tyr302Cys chr1 12789931 12789934 VAR_034398 + O95521:p.Tyr316Phe chr1 12790108 12790111 VAR_034399 + O95521:p.Arg375Cys chr1 12853328 12853331 VAR_034400 + O60811:p.Val67Gly chr1 12853331 12853334 VAR_034401 + O60811:p.Ser68Trp chr1 12853343 12853346 VAR_034402 + O60811:p.Thr72Arg chr1 12853907 12853910 VAR_034403 + O60811:p.Ala128Thr chr1 12853946 12853949 VAR_034404 + O60811:p.Thr141Met chr1 12854198 12854201 VAR_034405 + O60811:p.Tyr225Cys chr1 12854222 12854225 VAR_034406 + O60811:p.Thr233Asn chr1 12855375 12855378 VAR_034407 + O60811:p.Thr301Ala chr1 12855378 12855381 VAR_034408 + O60811:p.Cys302Tyr chr1 12855384 12855387 VAR_034409 + O60811:p.Asn304Tyr chr1 12855396 12855399 VAR_034410 + O60811:p.Glu308Gly chr1 12855402 12855405 VAR_034411 + O60811:p.Leu310Met chr1 12855420 12855423 VAR_034412 + O60811:p.Phe316Tyr chr1 12855597 12855600 VAR_034413 + O60811:p.Cys375Arg chr12 11352721 11352847 VAR_035034 - P10163:p.113_154del chr12 11352631 11352694 VAR_035035 - P10163:p.164_184del chr12 11352625 11352628 VAR_031549 - P10163:p.Pro186Arg chr12 11352583 11352586 VAR_031550 - P10163:p.Pro200His chr1 153551041 153551044 VAR_024341 + Q92733:p.Pro136Ser chr17 72047821 72047824 VAR_031122 + Q00LT1:p.Cys2Tyr chr17 72047866 72047869 VAR_031123 + Q00LT1:p.Arg17Cys chr17 72048194 72048197 VAR_031124 + Q00LT1:p.Val30Met chr11 129300157 129300160 VAR_019984 - Q9NQV6:p.Thr487Ala chr8 71143289 71143292 VAR_021895 - Q9GZV8:p.Lys244Glu chr21 42095955 42095958 VAR_014992 - P57071:p.Val1342Ile chr21 42094864 42094867 VAR_014993 - P57071:p.Thr1376Ser chr21 42094549 42094552 VAR_014994 - P57071:p.Ser1481Pro chr6 106642945 106642948 VAR_019983 + O75626:p.Gly38Ser chr6 106654062 106654065 VAR_024221 + O75626:p.Asp167Glu chr1 45650492 45650495 VAR_025050 - Q06830:p.Arg62Gly chr19 12771724 12771727 VAR_025051 - P32119:p.Asp153Glu chr10 120926526 120926529 VAR_025052 - P30048:p.Ser55Arg chr10 120918741 120918744 VAR_025053 - P30048:p.Ala218Thr chr10 120918693 120918696 VAR_025054 - P30048:p.Thr234Ile chr11 63844942 63844945 VAR_036406 + P30044:p.Phe157Leu chr1 200187558 200187561 VAR_011976 + P51888:p.Asn348His chr10 3197606 3197609 VAR_027519 - Q5JRX3:p.Phe169Ser chr10 3187831 3187834 VAR_027522 - Q5JRX3:p.Gln516His chr20 46692167 46692170 VAR_023210 - Q8TCU6:p.Val1240Ile chr20 46686554 46686557 VAR_023211 - Q8TCU6:p.Lys1340Glu chr20 46679482 46679485 VAR_023212 - Q8TCU6:p.Ser1559Thr chr11 56911875 56911878 VAR_036401 - P13727:p.Arg179Cys chr1 183005650 183005653 VAR_024023 + Q92954:p.Arg180Trp chr4 23491928 23491931 VAR_018450 - Q9UBK2:p.Gly482Ser chr4 23490974 23490977 VAR_018451 - Q9UBK2:p.Thr612Met chr5 149192435 149192438 VAR_026698 + Q86YN6:p.Ala203Pro chr5 149192621 149192624 VAR_026699 + Q86YN6:p.Arg265Gln chr5 149192663 149192666 VAR_026700 + Q86YN6:p.Val279Ile chr5 149192702 149192705 VAR_026701 + Q86YN6:p.Arg292Ser chr11 100504861 100504864 VAR_019221 - P06401:p.Ala50Thr chr11 100504651 100504654 VAR_019222 - P06401:p.Ala120Val chr11 100504453 100504456 VAR_019223 - P06401:p.Pro186Leu chr11 100504108 100504111 VAR_019224 - P06401:p.Met301Arg chr11 100503979 100503982 VAR_016117 - P06401:p.Ser344Thr chr11 100503970 100503973 VAR_025555 - P06401:p.Cys347Ser chr11 100503679 100503682 VAR_019225 - P06401:p.Ala444Ser chr11 100503424 100503427 VAR_019226 - P06401:p.Val529Leu chr11 100503403 100503406 VAR_019227 - P06401:p.Gln536Pro chr11 100467731 100467734 VAR_014627 - P06401:p.Arg625Ile chr11 100438646 100438649 VAR_019228 - P06401:p.Leu651Val chr11 100438619 100438622 VAR_016118 - P06401:p.Val660Leu chr11 100417936 100417939 VAR_014628 - P06401:p.Ser865Leu chr12 55432334 55432337 VAR_021898 - P49642:p.Asp5Ala chrX 48788566 48788569 VAR_036188 - O43900:p.Glu558Asp chr14 93323751 93323754 VAR_035980 - Q86XR5:p.Ala22Val chr20 4628031 4628055 VAR_013763 + P04156:p.56_63del chr20 4628169 4628172 VAR_006464 + P04156:p.Pro102Leu chr20 4628178 4628181 VAR_006465 + P04156:p.Pro105Leu chr20 4628214 4628217 VAR_006466 + P04156:p.Ala117Val chr20 4628250 4628253 VAR_006467 + P04156:p.Met129Val chr20 4628256 4628259 VAR_014264 + P04156:p.Gly131Val chr20 4628376 4628379 VAR_006468 + P04156:p.Asn171Ser chr20 4628397 4628400 VAR_006469 + P04156:p.Asp178Asn chr20 4628403 4628406 VAR_006470 + P04156:p.Val180Ile chr20 4628412 4628415 VAR_006471 + P04156:p.Thr183Ala chr20 4628424 4628427 VAR_008746 + P04156:p.His187Arg chr20 4628427 4628430 VAR_008748 + P04156:p.Thr188Lys chr20 4628427 4628430 VAR_008747 + P04156:p.Thr188Arg chr20 4628451 4628454 VAR_008749 + P04156:p.Glu196Lys chr20 4628457 4628460 VAR_006472 + P04156:p.Phe198Ser chr20 4628463 4628466 VAR_006473 + P04156:p.Glu200Lys chr20 4628469 4628472 VAR_008750 + P04156:p.Asp202Asn chr20 4628472 4628475 VAR_008751 + P04156:p.Val203Ile chr20 4628487 4628490 VAR_006474 + P04156:p.Arg208His chr20 4628493 4628496 VAR_006475 + P04156:p.Val210Ile chr20 4628496 4628499 VAR_008752 + P04156:p.Glu211Gln chr20 4628499 4628502 VAR_008753 + P04156:p.Gln212Pro chr20 4628514 4628517 VAR_006476 + P04156:p.Gln217Arg chr20 4628520 4628523 VAR_006477 + P04156:p.Glu219Lys chr20 4628559 4628562 VAR_006478 + P04156:p.Met232Arg chr20 4628577 4628580 VAR_008754 + P04156:p.Pro238Ser chr6 162834878 162834881 VAR_019733 - O60260:p.Val15Met chr6 162834824 162834827 VAR_019734 - O60260:p.Arg33Gln chr6 162834812 162834815 VAR_019735 - O60260:p.Pro37Leu chr6 162834797 162834800 VAR_019736 - O60260:p.Arg42Pro chr6 162834785 162834788 VAR_019737 - O60260:p.Ala46Pro chr6 162654133 162654136 VAR_019738 - O60260:p.Ala82Glu chr6 162654103 162654106 VAR_019739 - O60260:p.Ala92Val chr6 162654079 162654082 VAR_019740 - O60260:p.Gln100His chr6 162592624 162592627 VAR_019741 - O60260:p.Lys161Asn chr6 162592606 162592609 VAR_019742 - O60260:p.Ser167Asn chr6 162445575 162445578 VAR_019743 - O60260:p.Met192Val chr6 162364845 162364848 VAR_019744 - O60260:p.Lys211Asn chr6 162364845 162364848 VAR_019745 - O60260:p.Lys211Arg chr6 162364842 162364845 VAR_019746 - O60260:p.Cys212Tyr chr6 162364758 162364761 VAR_019747 - O60260:p.Thr240Met chr6 162364758 162364761 VAR_019748 - O60260:p.Thr240Arg chr6 162177326 162177329 VAR_019749 - O60260:p.Cys253Tyr chr6 162177317 162177320 VAR_019750 - O60260:p.Arg256Cys chr6 162177272 162177275 VAR_019751 - O60260:p.Arg271Ser chr6 162177260 162177263 VAR_019752 - O60260:p.Arg275Trp chr6 162177245 162177248 VAR_019753 - O60260:p.Asp280Asn chr6 162177233 162177236 VAR_019754 - O60260:p.Gly284Arg chr6 162177218 162177221 VAR_019755 - O60260:p.Cys289Gly chr6 161940395 161940398 VAR_019756 - O60260:p.Gly328Glu chr6 161940377 161940380 VAR_019757 - O60260:p.Arg334Cys chr6 161940362 161940365 VAR_019758 - O60260:p.Ala339Ser chr6 161940326 161940329 VAR_019759 - O60260:p.Thr351Pro chr6 161778305 161778308 VAR_019760 - O60260:p.Arg366Trp chr6 161778263 161778266 VAR_019761 - O60260:p.Val380Leu chr6 161751633 161751636 VAR_019762 - O60260:p.Asp394Asn chr6 161751570 161751573 VAR_019763 - O60260:p.Thr415Asn chr6 161741649 161741652 VAR_019764 - O60260:p.Gly430Asp chr6 161741646 161741649 VAR_019765 - O60260:p.Cys431Phe chr6 161741628 161741631 VAR_019766 - O60260:p.Pro437Leu chr6 161741616 161741619 VAR_019767 - O60260:p.Cys441Arg chr10 120343840 120343843 VAR_029746 - P49683:p.Asp302Gly chr20 4653212 4653215 VAR_013769 + Q9UKY0:p.Ser6Ile chr20 4653260 4653263 VAR_013770 + Q9UKY0:p.Ser22Pro chr20 4653272 4653275 VAR_013765 + Q9UKY0:p.Thr26Pro chr20 4653287 4653290 VAR_013771 + Q9UKY0:p.His31Arg chr20 4653362 4653365 VAR_013766 + Q9UKY0:p.Pro56Leu chr20 4653404 4653407 VAR_013772 + Q9UKY0:p.Phe70Leu chr20 4653641 4653644 VAR_013773 + Q9UKY0:p.Leu149Ser chr20 4653716 4653719 VAR_013767 + Q9UKY0:p.Thr174Met chr2 127893787 127893790 VAR_006634 + P04070:p.Trp14Gly chr2 127895111 127895114 VAR_006635 + P04070:p.Arg32Cys chr2 127895129 127895132 VAR_006636 + P04070:p.Arg38Trp chr2 127895141 127895144 VAR_006638 + P04070:p.Arg42Cys chr2 127895141 127895144 VAR_006637 + P04070:p.Arg42His chr2 127895144 127895147 VAR_006639 + P04070:p.Ala43Thr chr2 127895162 127895165 VAR_006640 + P04070:p.Glu49Asp chr2 127895168 127895171 VAR_006641 + P04070:p.Arg51Cys chr2 127895186 127895189 VAR_006643 + P04070:p.Arg57Gly chr2 127895186 127895189 VAR_006644 + P04070:p.Arg57Gln chr2 127895186 127895189 VAR_006642 + P04070:p.Arg57Trp chr2 127895201 127895204 VAR_006645 + P04070:p.Glu62Ala chr2 127895243 127895246 VAR_006646 + P04070:p.Val76Met chr2 127896841 127896844 VAR_006647 + P04070:p.Gly89Cys chr2 127896898 127896901 VAR_006648 + P04070:p.His108Asn chr2 127896901 127896904 VAR_006649 + P04070:p.Gly109Arg chr2 127896916 127896931 VAR_006650 + P04070:p.114_118del chr2 127896916 127896919 VAR_006651 + P04070:p.Gly114Arg chr2 127896928 127896931 VAR_006652 + P04070:p.Phe118Leu chr2 127896931 127896949 VAR_006653 + P04070:p.119_124del chr2 127896934 127896952 VAR_006654 + P04070:p.120_125del chr2 127897108 127897114 VAR_006655 + P04070:p.Asn144_Gly145delinsLys chr2 127897111 127897114 VAR_006656 + P04070:p.Gly145Arg chr2 127897117 127897120 VAR_006657 + P04070:p.Cys147Tyr chr2 127897123 127897126 VAR_006658 + P04070:p.His149Pro chr2 127897159 127897162 VAR_006659 + P04070:p.Ser161Arg chr2 127897210 127897213 VAR_006660 + P04070:p.Ala178Pro chr2 127899901 127899904 VAR_006661 + P04070:p.Cys183Arg chr2 127899919 127899922 VAR_006662 + P04070:p.Arg189Trp chr2 127899934 127899937 VAR_006663 + P04070:p.Arg194Cys chr2 127899982 127899985 VAR_006664 + P04070:p.Pro210Leu chr2 127899985 127899988 VAR_006666 + P04070:p.Arg211Gln chr2 127899985 127899988 VAR_006665 + P04070:p.Arg211Trp chr2 127900012 127900015 VAR_006667 + P04070:p.Arg220Pro chr2 127900012 127900015 VAR_006669 + P04070:p.Arg220Gln chr2 127900012 127900015 VAR_006668 + P04070:p.Arg220Trp chr2 127900030 127900033 VAR_006670 + P04070:p.Gln226His chr2 127900958 127900961 VAR_006671 + P04070:p.Ile243Thr chr2 127900961 127900964 VAR_006672 + P04070:p.His244Tyr chr2 127900988 127900991 VAR_006673 + P04070:p.His253Gln chr2 127901024 127901027 VAR_006674 + P04070:p.Leu265Phe chr2 127902176 127902179 VAR_006675 + P04070:p.Arg271Gln chr2 127902176 127902179 VAR_006676 + P04070:p.Arg271Trp chr2 127902179 127902182 VAR_006677 + P04070:p.Arg272Cys chr2 127902206 127902209 VAR_006678 + P04070:p.Asp281Asp chr2 127902230 127902233 VAR_006679 + P04070:p.Pro289Leu chr2 127902245 127902248 VAR_006680 + P04070:p.Ser294Asn chr2 127902257 127902260 VAR_006681 + P04070:p.Asn298Asp chr2 127902266 127902269 VAR_006682 + P04070:p.Ala301Thr chr2 127902266 127902269 VAR_006683 + P04070:p.Ala301Val chr2 127902290 127902293 VAR_006684 + P04070:p.Ala309Thr chr2 127902299 127902302 VAR_006685 + P04070:p.Ser312Leu chr2 127902299 127902302 VAR_006686 + P04070:p.Ser312Pro chr2 127902326 127902329 VAR_006687 + P04070:p.Pro321Leu chr2 127902335 127902338 VAR_006688 + P04070:p.Gly324Arg chr2 127902347 127902350 VAR_006689 + P04070:p.Arg328Cys chr2 127902347 127902350 VAR_006690 + P04070:p.Arg328His chr2 127902365 127902368 VAR_006691 + P04070:p.Gly334Ser chr2 127902383 127902386 VAR_006692 + P04070:p.Thr340Met chr2 127902392 127902395 VAR_006693 + P04070:p.Gly343Asp chr2 127902452 127902455 VAR_006694 + P04070:p.363del chr2 127902464 127902467 VAR_006695 + P04070:p.Val367Ala chr2 127902470 127902473 VAR_006696 + P04070:p.Pro369Leu chr2 127902518 127902521 VAR_006697 + P04070:p.Met385Ile chr2 127902527 127902530 VAR_006698 + P04070:p.Ala388Thr chr2 127902527 127902530 VAR_006699 + P04070:p.Ala388Val chr2 127902539 127902542 VAR_006700 + P04070:p.Gly392Arg chr2 127902545 127902548 VAR_006701 + P04070:p.Arg394Trp chr2 127902566 127902569 VAR_006702 + P04070:p.Asp401Asn chr2 127902617 127902620 VAR_006703 + P04070:p.Gly418Asp chr2 127902632 127902635 VAR_006704 + P04070:p.Gly423Ser chr2 127902641 127902644 VAR_006705 + P04070:p.Cys426Tyr chr2 127902662 127902665 VAR_006706 + P04070:p.Gly433Ser chr2 127902671 127902674 VAR_006707 + P04070:p.Thr436Asn chr2 127902686 127902689 VAR_006708 + P04070:p.Tyr441His chr2 127902695 127902698 VAR_006709 + P04070:p.Trp444Cys chr2 127902698 127902701 VAR_006710 + P04070:p.Ile445Met chr19 40995502 40995505 VAR_036852 - Q9UF12:p.Pro91Arg chr19 40982815 40982818 VAR_036853 - Q9UF12:p.Arg525Gln chr3 71916797 71916800 VAR_030955 - Q9HC23:p.Gly32Arg chr3 71913310 71913313 VAR_030956 - Q9HC23:p.Arg73Cys chr12 10891045 10891048 VAR_027926 - Q16378:p.Arg96Gln chr4 15753705 15753708 VAR_010382 - O43490:p.Ala31Gly chr4 15753705 15753708 VAR_010383 - O43490:p.Ala31Ser chr5 177353835 177353838 VAR_003768 - O75360:p.Arg73Cys chr5 177353835 177353838 VAR_012746 - O75360:p.Arg73His chr5 177352645 177352648 VAR_003769 - O75360:p.Phe117Ile chr5 177352636 177352639 VAR_003770 - O75360:p.Arg120Cys chr5 177352570 177352573 VAR_014531 - O75360:p.Ala142Thr chrX 47245488 47245491 VAR_035813 - P27918:p.Thr3Ile chrX 47245244 47245247 VAR_020395 - P27918:p.Val53Met chrX 47243857 47243860 VAR_002002 - P27918:p.Arg100Trp chrX 47242947 47242950 VAR_020396 - P27918:p.Pro204Leu chrX 47242809 47242812 VAR_020397 - P27918:p.Gly250Ser chrX 47242471 47242474 VAR_013139 - P27918:p.Gly298Val chrX 47242083 47242086 VAR_002003 - P27918:p.Gln343Arg chrX 47241712 47241715 VAR_002004 - P27918:p.Tyr414Asp chr13 112862465 112862468 VAR_013124 + P22891:p.Glu70Lys chr13 112874099 112874102 VAR_013125 + P22891:p.Arg295His chr16 70703861 70703864 VAR_015518 + Q92620:p.Thr1217Ala chr17 1533641 1533644 VAR_022622 - Q6P2Q9:p.Lys68Glu chr17 1531706 1531709 VAR_022623 - Q6P2Q9:p.Arg227His chr17 1526028 1526031 VAR_022624 - Q6P2Q9:p.Pro874Leu chr17 1512092 1512095 VAR_022625 - Q6P2Q9:p.Asn1293His chr17 1500950 1500953 VAR_022626 - Q6P2Q9:p.Pro2301Thr chr17 1500941 1500944 VAR_022627 - Q6P2Q9:p.Phe2304Leu chr17 1500926 1500929 VAR_022628 - Q6P2Q9:p.His2309Pro chr17 1500926 1500929 VAR_022629 - Q6P2Q9:p.His2309Arg chr17 1500923 1500926 VAR_022630 - Q6P2Q9:p.Arg2310Gly chr17 1500923 1500926 VAR_022631 - Q6P2Q9:p.Arg2310Lys chr17 1500911 1500914 VAR_022632 - Q6P2Q9:p.Phe2314Leu chr17 1500851 1500854 VAR_022633 - Q6P2Q9:p.Tyr2334Asn chr12 10973196 10973199 VAR_005563 + P02810:p.Asp20Asn chr12 10974550 10974553 VAR_023240 + P02810:p.Ile42Leu chr12 10974715 10974718 VAR_023241 + P02810:p.Gln97Gln chr12 10974781 10974784 VAR_023242 + P02810:p.Arg119Cys chr12 10974913 10974916 VAR_005565 + P02810:p.Gln163Lys chr1 147129763 147129766 VAR_016877 + O43395:p.Thr494Met chr20 44751385 44751388 VAR_014427 - Q96S44:p.Ala25Thr chr20 44749191 44749194 VAR_041881 - Q96S44:p.Arg123Gln chr20 44749173 44749176 VAR_030870 - Q96S44:p.Thr129Ala chr20 44749125 44749128 VAR_041882 - Q96S44:p.Thr145Ala chrX 106688673 106688676 VAR_036941 + P60891:p.Glu43Asp chrX 106688700 106688703 VAR_016044 + P60891:p.Asp52His chrX 106690309 106690312 VAR_004163 + P60891:p.Asn114Ser chrX 106690312 106690315 VAR_036942 + P60891:p.Met115Thr chrX 106690354 106690357 VAR_016045 + P60891:p.Leu129Ile chrX 106690366 106690369 VAR_036943 + P60891:p.Gln133Pro chrX 106691788 106691791 VAR_036944 + P60891:p.Leu152Pro chrX 106694567 106694570 VAR_004164 + P60891:p.Asp183His chrX 106694588 106694591 VAR_016046 + P60891:p.Ala190Val chrX 106694597 106694600 VAR_016047 + P60891:p.His193Gln chrX 106694627 106694630 VAR_036593 + P60891:p.Asp203His chrX 106694675 106694678 VAR_036594 + P60891:p.Val219Gly chrX 106694711 106694714 VAR_036595 + P60891:p.His231Asp chr16 30573866 30573869 VAR_035389 + Q9BWN1:p.Pro359Leu chr6 32226398 32226401 VAR_036212 - Q99946:p.Ala94Thr chr3 9966385 9966388 VAR_027745 - Q5FWE3:p.Gln138Glu chr3 9963276 9963279 VAR_027746 - Q5FWE3:p.Leu860Ile chr17 59260954 59260957 VAR_035901 + P62195:p.Arg60Gln chr15 53700164 53700167 VAR_038467 - Q2VWP7:p.Ile1062Leu chr19 795019 795022 VAR_011691 + P24158:p.Val119Ile chr19 797179 797182 VAR_011713 + P24158:p.Ala135Thr chr19 797182 797185 VAR_011714 + P24158:p.Thr136Ser chr6 31214437 31214440 VAR_017391 + Q9UIG5:p.Pro24Thr chr6 31214476 31214479 VAR_017393 + Q9UIG5:p.Arg37His chr6 31215625 31215628 VAR_017394 + Q9UIG5:p.Pro133Leu chr6 31214042 31214045 VAR_017395 - Q9UIG4:p.Gly25Asp chr6 31213865 31213868 VAR_017396 - Q9UIG4:p.Pro84Leu chr7 42737557 42737560 VAR_036278 - P25787:p.Leu110Val chr17 34163024 34163027 VAR_034415 + P49720:p.Met34Leu chr1 148185671 148185674 VAR_012072 + P28070:p.Met95Ile chr1 148187096 148187099 VAR_013115 + P28070:p.Ile234Thr chr17 4647950 4647953 VAR_020030 + P28072:p.Pro107Ala chr9 124256713 124256716 VAR_013292 - Q99436:p.Val39Ala chr8 143759808 143759811 VAR_020173 + O43653:p.Glu39Lys chr2 158125929 158125932 VAR_023534 - O60759:p.Asp37Asn chr11 238816 238819 VAR_031094 + Q9UNM6:p.Gly204Glu chr11 238819 238822 VAR_031095 + Q9UNM6:p.Leu205Phe chr2 113657068 113657071 VAR_027712 + Q8NDX1:p.Gly269Ala chr19 48278501 48278504 VAR_016039 - P11465:p.Val20Leu chr19 47935076 47935079 VAR_026722 - Q16557:p.Leu23Ser chr19 47935055 47935058 VAR_015679 - Q16557:p.Leu30Pro chr19 47928890 47928893 VAR_026723 - Q16557:p.Asn198Thr chr19 48106812 48106815 VAR_011723 - Q00889:p.Leu155Phe chr19 48106782 48106785 VAR_011724 - Q00889:p.Arg165Leu chr19 48106776 48106779 VAR_011725 - Q00889:p.Ile167Thr chr19 48106737 48106740 VAR_011726 - Q00889:p.Leu180Trp chr19 48106734 48106737 VAR_011727 - Q00889:p.Leu181Met chr19 48106722 48106725 VAR_011728 - Q00889:p.Asn185Ser chr19 48106704 48106707 VAR_011729 - Q00889:p.Arg191Ser chr19 48106689 48106692 VAR_011730 - Q00889:p.Lys196Glu chr19 48103793 48103796 VAR_011731 - Q00889:p.Lys253Asn chr19 48103781 48103784 VAR_011732 - Q00889:p.Leu257Ser chr19 48103778 48103781 VAR_011733 - Q00889:p.Ala258Thr chr19 48102941 48102944 VAR_011735 - Q00889:p.Ile404Ser chr19 47950520 47950523 VAR_033620 - Q9UQ74:p.Val349Asp chr14 23676396 23676399 VAR_011993 + Q06323:p.Ser55Asn chr14 23677844 23677847 VAR_011994 + Q06323:p.Thr244Lys chr20 1047521 1047524 VAR_024564 + Q92530:p.Phe36Cys chr20 1063917 1063920 VAR_022153 + Q92530:p.His174Arg chr14 72707404 72707407 VAR_006413 + P49768:p.Ala79Val chr14 72707413 72707416 VAR_006414 + P49768:p.Val82Leu chr14 72707443 72707446 VAR_016214 + P49768:p.Cys92Ser chr14 72707455 72707458 VAR_006415 + P49768:p.Val96Phe chr14 72707482 72707485 VAR_009208 + P49768:p.Phe105Leu chr14 72707506 72707508 VAR_016215 + P49768:p.Leu113Pro chr14 72710026 72710027 VAR_016215 + P49768:p.Leu113Pro chr14 72710030 72710033 VAR_006416 + P49768:p.Tyr115Cys chr14 72710030 72710033 VAR_006417 + P49768:p.Tyr115His chr14 72710033 72710036 VAR_010120 + P49768:p.Thr116Asn chr14 72710036 72710039 VAR_009209 + P49768:p.Pro117Leu chr14 72710045 72710048 VAR_006418 + P49768:p.Glu120Asp chr14 72710045 72710048 VAR_006419 + P49768:p.Glu120Lys chr14 72710090 72710093 VAR_010121 + P49768:p.Asn135Asp chr14 72710102 72710105 VAR_006420 + P49768:p.Met139Ile chr14 72710102 72710105 VAR_010122 + P49768:p.Met139Lys chr14 72710102 72710105 VAR_006421 + P49768:p.Met139Thr chr14 72710102 72710105 VAR_006422 + P49768:p.Met139Val chr14 72710114 72710117 VAR_006423 + P49768:p.Ile143Phe chr14 72710114 72710117 VAR_006424 + P49768:p.Ile143Thr chr14 72710123 72710126 VAR_006425 + P49768:p.Met146Ile chr14 72710123 72710126 VAR_006426 + P49768:p.Met146Leu chr14 72710123 72710126 VAR_006427 + P49768:p.Met146Val chr14 72710126 72710129 VAR_010123 + P49768:p.Thr147Ile chr14 72723319 72723322 VAR_006428 + P49768:p.His163Arg chr14 72723319 72723322 VAR_006429 + P49768:p.His163Tyr chr14 72723325 72723328 VAR_010124 + P49768:p.Trp165Cys chr14 72723328 72723331 VAR_016216 + P49768:p.Leu166Pro chr14 72723337 72723340 VAR_006430 + P49768:p.Ser169Leu chr14 72723337 72723340 VAR_006431 + P49768:p.Ser169Pro chr14 72723343 72723346 VAR_006432 + P49768:p.Leu171Pro chr14 72723349 72723352 VAR_010125 + P49768:p.Leu173Trp chr14 72723352 72723355 VAR_016217 + P49768:p.Leu174Met chr14 72729168 72729171 VAR_011876 + P49768:p.Phe205Leu chr14 72729171 72729174 VAR_016218 + P49768:p.Gly206Ala chr14 72729180 72729183 VAR_009210 + P49768:p.Gly209Arg chr14 72729180 72729183 VAR_006433 + P49768:p.Gly209Val chr14 72729192 72729195 VAR_006434 + P49768:p.Ile213Thr chr14 72729210 72729213 VAR_010126 + P49768:p.Leu219Pro chr14 72729246 72729249 VAR_006435 + P49768:p.Ala231Thr chr14 72729246 72729249 VAR_006436 + P49768:p.Ala231Val chr14 72729252 72729255 VAR_009211 + P49768:p.Met233Leu chr14 72729252 72729255 VAR_006437 + P49768:p.Met233Thr chr14 72729258 72729261 VAR_006438 + P49768:p.Leu235Pro chr14 72729291 72729294 VAR_006439 + P49768:p.Ala246Glu chr14 72729303 72729306 VAR_006440 + P49768:p.Leu250Ser chr14 72734499 72734502 VAR_006441 + P49768:p.Ala260Val chr14 72734505 72734508 VAR_006442 + P49768:p.Leu262Phe chr14 72734508 72734511 VAR_006443 + P49768:p.Cys263Arg chr14 72734511 72734514 VAR_006444 + P49768:p.Pro264Leu chr14 72734517 72734520 VAR_016219 + P49768:p.Gly266Ser chr14 72734520 72734523 VAR_006445 + P49768:p.Pro267Ser chr14 72734520 72734523 VAR_006446 + P49768:p.Pro267Thr chr14 72734526 72734529 VAR_006447 + P49768:p.Arg269Gly chr14 72734526 72734529 VAR_006448 + P49768:p.Arg269His chr14 72734532 72734535 VAR_016220 + P49768:p.Leu271Val chr14 72734553 72734556 VAR_006449 + P49768:p.Arg278Thr chr14 72734559 72734562 VAR_006450 + P49768:p.Glu280Ala chr14 72734559 72734562 VAR_006451 + P49768:p.Glu280Gly chr14 72734565 72734568 VAR_009212 + P49768:p.Leu282Arg chr14 72734574 72734577 VAR_006452 + P49768:p.Ala285Val chr14 72734577 72734580 VAR_006453 + P49768:p.Leu286Val chr14 72734586 72734589 VAR_010127 + P49768:p.Ser289Cys chr14 72742929 72742932 VAR_006454 + P49768:p.Glu318Gly chr14 72753588 72753591 VAR_006455 + P49768:p.Gly378Glu chr14 72753606 72753609 VAR_006456 + P49768:p.Gly384Ala chr14 72753624 72753627 VAR_010128 + P49768:p.Ser390Ile chr14 72753630 72753633 VAR_006457 + P49768:p.Leu392Val chr14 72753669 72753672 VAR_010129 + P49768:p.Asn405Ser chr14 72753681 72753684 VAR_009213 + P49768:p.Ala409Thr chr14 72753684 72753687 VAR_006458 + P49768:p.Cys410Tyr chr14 72755621 72755624 VAR_006459 + P49768:p.Ala426Pro chr14 72755636 72755639 VAR_025605 + P49768:p.Ala431Glu chr14 72755651 72755654 VAR_006460 + P49768:p.Pro436Gln chr14 72755651 72755654 VAR_008141 + P49768:p.Pro436Ser chr2 85805397 85805400 VAR_006948 - P07988:p.Thr131Ile chr2 85804440 85804443 VAR_013099 - P07988:p.Leu176Phe chr2 85802616 85802619 VAR_006950 - P07988:p.Ala228Ile chr2 85802616 85802619 VAR_006949 - P07988:p.Ala228Arg chr2 85802592 85802595 VAR_036856 - P07988:p.Arg236Cys chr2 85802484 85802487 VAR_013100 - P07988:p.Arg272His chr8 22076184 22076187 VAR_036855 + P11686:p.Glu66Lys chr8 22076552 22076555 VAR_026753 + P11686:p.Ile73Thr chr8 22076914 22076917 VAR_026754 + P11686:p.Ala116Asp chr8 22077403 22077406 VAR_026755 + P11686:p.Arg167Gln chr8 22077466 22077469 VAR_026756 + P11686:p.Leu188Gln chr10 124732884 124732887 VAR_028156 + Q8IV42:p.Gly206Arg chr14 87547634 87547637 VAR_022064 + Q8IYL9:p.Ile231Leu chr9 21019327 21019330 VAR_037714 - Q5VWC8:p.Thr36Ala chr1 28161002 28161005 VAR_011851 - P25105:p.Ala224Asp chr1 28160660 28160663 VAR_011852 - P25105:p.Asn338Ser chr9 95327580 95327583 VAR_007843 - Q13635:p.Leu175Pro chr9 95323841 95323844 VAR_020845 - Q13635:p.Thr230Pro chr9 95320923 95320926 VAR_007844 - Q13635:p.Phe376Ser chr9 95320872 95320875 VAR_032952 - Q13635:p.Ala393Thr chr9 95319909 95319912 VAR_032953 - Q13635:p.Ala443Gly chr9 95318679 95318685 VAR_020846 - Q13635:p.Phe505_Leu506delinsLeuArg chr9 95318670 95318673 VAR_010974 - Q13635:p.Gly509Arg chr9 95318670 95318673 VAR_010975 - Q13635:p.Gly509Val chr9 95318658 95318661 VAR_010976 - Q13635:p.Asp513Tyr chr9 95310653 95310656 VAR_032954 - Q13635:p.Thr728Met chr9 95309259 95309262 VAR_032955 - Q13635:p.Val751Gly chr9 95309067 95309070 VAR_007845 - Q13635:p.Ile815Ile chr9 95309064 95309067 VAR_010977 - Q13635:p.816del chr9 95309031 95309034 VAR_032956 - Q13635:p.Ser827Gly chr9 95309025 95309028 VAR_010978 - Q13635:p.Val829Met chr9 95301599 95301602 VAR_032957 - Q13635:p.Val908Gly chr9 95299861 95299864 VAR_032958 - Q13635:p.Thr1052Met chr9 95298211 95298214 VAR_010979 - Q13635:p.Gly1069Arg chr9 95298169 95298172 VAR_007846 - Q13635:p.Val1083Val chr9 95295421 95295424 VAR_007847 - Q13635:p.Arg1114Trp chr9 95295367 95295370 VAR_010980 - Q13635:p.Ser1132Pro chr9 95295367 95295370 VAR_010981 - Q13635:p.Ser1132Tyr chr9 95291124 95291127 VAR_020440 - Q13635:p.Thr1195Ser chr9 95290983 95290986 VAR_010982 - Q13635:p.Glu1242Lys chr9 95289246 95289249 VAR_020847 - Q13635:p.Pro1282Leu chr9 95289147 95289150 VAR_010983 - Q13635:p.Pro1315Leu chr9 95288778 95288781 VAR_010984 - Q13635:p.Glu1438Asp chr1 44964423 44964426 VAR_018935 - Q9Y6C5:p.Glu346Gln chr1 44963381 44963384 VAR_018936 - Q9Y6C5:p.Glu493Lys chr1 44962799 44962802 VAR_018937 - Q9Y6C5:p.His622Tyr chr1 44961264 44961267 VAR_018938 - Q9Y6C5:p.Thr988Met chr1 44961071 44961074 VAR_018939 - Q9Y6C5:p.Val1019Met chr1 44957428 44957431 VAR_018940 - Q9Y6C5:p.Ile1121Met chr2 86245031 86245034 VAR_035154 + Q96EY7:p.Ala2Val chr2 86276310 86276313 VAR_035155 + Q96EY7:p.Ser681Gly chr10 89614233 89614236 VAR_026248 + P60484:p.Ser10Asn chr10 89614248 89614251 VAR_007457 + P60484:p.Arg15Ser chr10 89614251 89614254 VAR_026249 + P60484:p.Tyr16Cys chr10 89614260 89614263 VAR_018100 + P60484:p.Asp19Asn chr10 89614263 89614266 VAR_026250 + P60484:p.Gly20Glu chr10 89614284 89614285 VAR_026251 + P60484:p.Tyr27Ser chr10 89643761 89643763 VAR_026251 + P60484:p.Tyr27Ser chr10 89643778 89643781 VAR_008733 + P60484:p.33del chr10 89643781 89643784 VAR_008734 + P60484:p.Ala34Asp chr10 89643784 89643787 VAR_008036 + P60484:p.Met35Arg chr10 89643787 89643790 VAR_007458 + P60484:p.Gly36Glu chr10 89643787 89643790 VAR_026252 + P60484:p.Gly36Arg chr10 89643805 89643808 VAR_007459 + P60484:p.Leu42Arg chr10 89643820 89643823 VAR_011587 + P60484:p.Arg47Gly chr10 89675253 89675256 VAR_007460 + P60484:p.Leu57Trp chr10 89675265 89675268 VAR_018101 + P60484:p.His61Asp chr10 89675265 89675268 VAR_026253 + P60484:p.His61Arg chr10 89675283 89675286 VAR_007461 + P60484:p.Ile67Arg chr10 89675286 89675289 VAR_007462 + P60484:p.Tyr68His chr10 89675292 89675294 VAR_018102 + P60484:p.Leu70Pro chr10 89680782 89680783 VAR_018102 + P60484:p.Leu70Pro chr10 89680783 89680786 VAR_026254 + P60484:p.Cys71Tyr chr10 89682772 89682775 VAR_032634 + P60484:p.His93Arg chr10 89682772 89682775 VAR_026255 + P60484:p.His93Tyr chr10 89682808 89682811 VAR_026256 + P60484:p.Cys105Phe chr10 89682808 89682811 VAR_008735 + P60484:p.Cys105Tyr chr10 89682814 89682817 VAR_026257 + P60484:p.Asp107Tyr chr10 89682829 89682832 VAR_007807 + P60484:p.Leu112Pro chr10 89682829 89682832 VAR_026258 + P60484:p.Leu112Arg chr10 89682850 89682853 VAR_011588 + P60484:p.Val119Leu chr10 89682856 89682859 VAR_018103 + P60484:p.Ala121Gly chr10 89682856 89682859 VAR_026259 + P60484:p.Ala121Pro chr10 89682862 89682865 VAR_007463 + P60484:p.His123Arg chr10 89682862 89682865 VAR_026260 + P60484:p.His123Tyr chr10 89682865 89682868 VAR_007464 + P60484:p.Cys124Arg chr10 89682865 89682868 VAR_018104 + P60484:p.Cys124Ser chr10 89682880 89682883 VAR_007465 + P60484:p.Gly129Glu chr10 89682880 89682883 VAR_007466 + P60484:p.Gly129Arg chr10 89682883 89682886 VAR_026261 + P60484:p.Arg130Gly chr10 89682883 89682886 VAR_007467 + P60484:p.Arg130Leu chr10 89682883 89682886 VAR_007468 + P60484:p.Arg130Gln chr10 89682889 89682892 VAR_032635 + P60484:p.Gly132Val chr10 89682892 89682895 VAR_026262 + P60484:p.Val133Ile chr10 89682895 89682898 VAR_007469 + P60484:p.Met134Leu chr10 89682898 89682901 VAR_008736 + P60484:p.Ile135Val chr10 89682901 89682904 VAR_007808 + P60484:p.Cys136Tyr chr10 89682904 89682907 VAR_008737 + P60484:p.Ala137Ala chr10 89682958 89682961 VAR_026263 + P60484:p.Tyr155Cys chr10 89682967 89682970 VAR_011589 + P60484:p.Val158Leu chr10 89701854 89701857 VAR_008739 + P60484:p.Gly165Glu chr10 89701854 89701857 VAR_026264 + P60484:p.Gly165Arg chr10 89701854 89701857 VAR_008738 + P60484:p.Gly165Val chr10 89701860 89701863 VAR_026265 + P60484:p.Thr167Pro chr10 89701869 89701872 VAR_026266 + P60484:p.Ser170Asn chr10 89701869 89701872 VAR_007470 + P60484:p.Ser170Arg chr10 89701878 89701881 VAR_026267 + P60484:p.Arg173Cys chr10 89701878 89701881 VAR_026268 + P60484:p.Arg173His chr10 89701878 89701881 VAR_026269 + P60484:p.Arg173Pro chr10 89701881 89701884 VAR_026270 + P60484:p.Tyr174Asn chr10 89701932 89701935 VAR_026271 + P60484:p.Val191Ala chr10 89707603 89707606 VAR_018105 + P60484:p.Val217Ile chr10 89707633 89707636 VAR_026272 + P60484:p.Ser227Phe chr10 89707654 89707657 VAR_018106 + P60484:p.Arg234Gln chr10 89707675 89707678 VAR_032636 + P60484:p.Phe241Ser chr10 89707690 89707693 VAR_008740 + P60484:p.Pro246Leu chr10 89707705 89707708 VAR_026273 + P60484:p.Gly251Cys chr10 89707708 89707711 VAR_032637 + P60484:p.Asp252Gly chr10 89710693 89710696 VAR_008741 + P60484:p.Lys289Glu chr10 89710696 89710699 VAR_025167 + P60484:p.Val290Leu chr10 89710783 89710786 VAR_026274 + P60484:p.319del chr10 89710819 89710822 VAR_026275 + P60484:p.Asp331Gly chr10 89710849 89710852 VAR_026276 + P60484:p.Phe341Val chr10 89710852 89710855 VAR_026277 + P60484:p.Lys342Asn chr10 89715023 89715026 VAR_008742 + P60484:p.Val343Glu chr10 89715029 89715032 VAR_026278 + P60484:p.Leu345Gln chr10 89715035 89715038 VAR_008743 + P60484:p.Phe347Leu chr10 89715038 89715041 VAR_026279 + P60484:p.Thr348Ile chr10 89715101 89715104 VAR_026280 + P60484:p.Val369Gly chr10 89715197 89715200 VAR_026281 + P60484:p.Thr401Ile chr9 137149332 137149335 VAR_004273 + P41222:p.Arg56Gln chr20 47600093 47600096 VAR_010915 - Q16647:p.Pro38Leu chr20 47597807 47597810 VAR_010916 - Q16647:p.Ser118Arg chr20 47594307 47594310 VAR_014634 - Q16647:p.Glu154Ala chr20 47594256 47594259 VAR_014635 - Q16647:p.Phe171Leu chr20 47574148 47574151 VAR_014636 - Q16647:p.Arg236Cys chr20 47563092 47563095 VAR_010917 - Q16647:p.Arg379Ser chr20 47557866 47557869 VAR_014637 - Q16647:p.Pro500Ser chr7 32990421 32990424 VAR_026389 + Q3SYG4:p.Gly141Arg chr7 33161952 33161955 VAR_026390 + Q3SYG4:p.Ala455Val chr10 27742807 27742810 VAR_036918 - Q3KNS1:p.Thr126Ala chr10 27742729 27742732 VAR_036919 - Q3KNS1:p.Leu152Pro chr10 27742513 27742516 VAR_036920 - Q3KNS1:p.Ala224Gly chr10 27740837 27740840 VAR_036921 - Q3KNS1:p.Arg372Lys chr10 27732282 27732285 VAR_036922 - Q3KNS1:p.Cys407Gly chr10 27728113 27728116 VAR_036923 - Q3KNS1:p.Asp473Gly chr10 27727969 27727972 VAR_036924 - Q3KNS1:p.Met521Thr chr3 46914428 46914431 VAR_016062 + Q03431:p.Pro132Leu chr3 46914590 46914593 VAR_016063 + Q03431:p.Arg150Cys chr3 46915183 46915186 VAR_003582 + Q03431:p.His223Arg chr3 46919035 46919038 VAR_003583 + Q03431:p.Thr410Pro chr3 46919035 46919038 VAR_038811 + Q03431:p.Thr410Arg chr3 46919260 46919263 VAR_016064 + Q03431:p.Ile458Arg chr12 28007564 28007567 VAR_036433 - P12272:p.Ser169Thr chr11 13470924 13470927 VAR_006047 - P01270:p.Cys18Arg chr11 13470909 13470912 VAR_018464 - P01270:p.Ser23Pro chr7 76845126 76845129 VAR_006385 + Q05209:p.Lys61Arg chr7 76901363 76901366 VAR_020297 + Q05209:p.Thr573Ala chr4 88044774 88044777 VAR_016200 + Q12923:p.Leu1419Pro chr4 88048174 88048177 VAR_016201 + Q12923:p.Ile1522Met chr4 88049571 88049574 VAR_024373 + Q12923:p.Glu1625Lys chr4 88063684 88063687 VAR_024374 + Q12923:p.Tyr2081Asp chr20 48631260 48631263 VAR_022013 + P18031:p.Gly381Ser chr20 48631278 48631281 VAR_022014 + P18031:p.Pro387Leu chr3 47427121 47427124 VAR_022682 + Q9H3S7:p.Ala944Thr chr3 47427586 47427589 VAR_022683 + Q9H3S7:p.Pro1099Ser chr9 128962395 128962398 VAR_028101 + Q15257:p.Lys28Arg chr9 128976683 128976686 VAR_028102 + Q15257:p.Arg208Gln chr9 128989288 128989291 VAR_028103 + Q15257:p.Ser357Leu chr7 157428852 157428855 VAR_022015 - Q92932:p.Val343Met chr9 8626824 8626827 VAR_035645 - P23468:p.Arg28Gln chr9 8511409 8511412 VAR_035646 - P23468:p.Leu276Pro chr9 8508049 8508052 VAR_024581 - P23468:p.Gln447Glu chr1 43726697 43726700 VAR_020300 + P10586:p.Asp552Asn chr3 62164228 62164231 VAR_020301 + P23470:p.Gly574Ser chr3 62164423 62164426 VAR_031562 + P23470:p.Gln639Arg chr11 48101763 48101766 VAR_015905 + Q12913:p.Arg214Cys chr11 48101949 48101952 VAR_015906 + Q12913:p.Gln276Pro chr11 48103097 48103100 VAR_038414 + Q12913:p.Ala293Thr chr11 48103196 48103199 VAR_024582 + Q12913:p.Arg326Gln chr11 48105927 48105930 VAR_038415 + Q12913:p.Val372Ile chr11 48122840 48122843 VAR_038416 + Q12913:p.Glu872Asp chr11 48141729 48141732 VAR_038417 + Q12913:p.Ile1235Thr chr12 69425929 69425932 VAR_014283 - Q15256:p.Lys314Arg chr19 5173814 5173817 VAR_035649 - Q13332:p.Thr996Met chr20 41251700 41251703 VAR_028795 - O14522:p.Ala29Pro chr20 40853512 40853515 VAR_020746 - O14522:p.Phe74Ser chr20 40853506 40853509 VAR_028796 - O14522:p.Met76Val chr20 40833545 40833548 VAR_020747 - O14522:p.Ala209Thr chr20 40833518 40833521 VAR_020748 - O14522:p.Lys218Thr chr20 40818630 40818633 VAR_020749 - O14522:p.Phe248Ser chr20 40818534 40818537 VAR_020750 - O14522:p.Tyr280His chr20 40534584 40534587 VAR_020751 - O14522:p.Ile395Val chr20 40534533 40534536 VAR_020752 - O14522:p.Tyr412Phe chr20 40534410 40534413 VAR_020753 - O14522:p.Arg453Cys chr20 40510303 40510306 VAR_020754 - O14522:p.Asn510Lys chr20 40412731 40412734 VAR_020755 - O14522:p.Thr605Met chr20 40377971 40377974 VAR_020756 - O14522:p.Val648Gly chr20 40377794 40377797 VAR_020757 - O14522:p.Ala707Thr chr20 40377794 40377797 VAR_020758 - O14522:p.Ala707Val chr20 40377791 40377794 VAR_020759 - O14522:p.Leu708Pro chr20 40204023 40204026 VAR_020761 - O14522:p.Asp927Gly chr20 40180543 40180546 VAR_020762 - O14522:p.Gln987Lys chr20 40168941 40168944 VAR_020763 - O14522:p.Ala1118Pro chr20 40168911 40168914 VAR_020764 - O14522:p.Asn1128Ile chr20 40164321 40164324 VAR_020765 - O14522:p.Arg1212Trp chr20 40164180 40164183 VAR_020766 - O14522:p.Met1259Leu chr20 40160579 40160582 VAR_020767 - O14522:p.Val1269Met chr20 40147781 40147784 VAR_020768 - O14522:p.Arg1346Leu chr20 40146884 40146887 VAR_020769 - O14522:p.Tyr1351Phe chr20 40146833 40146836 VAR_020770 - O14522:p.Thr1368Met chr11 111602421 111602424 VAR_006816 + Q03393:p.Arg16Cys chr11 111602448 111602451 VAR_006817 + Q03393:p.Arg25Gly chr11 111602448 111602451 VAR_006818 + Q03393:p.Arg25Gln chr11 111604545 111604548 VAR_006819 + Q03393:p.Glu35Gly chr11 111604548 111604551 VAR_006820 + Q03393:p.Asn36Lys chr11 111604581 111604584 VAR_008040 + Q03393:p.Asn47Asp chr11 111604596 111604599 VAR_006821 + Q03393:p.Asn52Ser chr11 111606142 111606145 VAR_006822 + Q03393:p.Val56Met chr11 111606145 111606148 VAR_006823 + Q03393:p.57del chr11 111606570 111606573 VAR_006824 + Q03393:p.Thr67Met chr11 111606579 111606582 VAR_006825 + Q03393:p.Val70Asp chr11 111609110 111609113 VAR_006826 + Q03393:p.Pro87Leu chr11 111609110 111609113 VAR_006827 + Q03393:p.Pro87Ser chr11 111609137 111609140 VAR_006828 + Q03393:p.Asp96Asn chr11 111609149 111609152 VAR_006829 + Q03393:p.Phe100Val chr11 111609365 111609368 VAR_006830 + Q03393:p.Thr106Met chr11 111609389 111609392 VAR_006831 + Q03393:p.Ile114Val chr11 111609395 111609398 VAR_008041 + Q03393:p.Asp116Gly chr11 111609434 111609437 VAR_006832 + Q03393:p.Lys129Glu chr11 111609455 111609458 VAR_006833 + Q03393:p.Asp136Val chr17 37828599 37828602 VAR_035982 - Q6NZI2:p.Pro14Thr chr17 37810824 37810827 VAR_034416 - Q6NZI2:p.Glu193Gln chr21 33833428 33833431 VAR_011817 - P22102:p.Leu21Phe chr21 33818980 33818983 VAR_011818 - P22102:p.Val421Ile chr21 33805486 33805489 VAR_011819 - P22102:p.Asp752Gly chr22 39067065 39067068 VAR_016930 + P30566:p.Ala2Val chr22 39067068 39067071 VAR_017078 + P30566:p.Ala3Val chr22 39067137 39067140 VAR_016931 + P30566:p.Met26Leu chr22 39067152 39067155 VAR_037883 + P30566:p.Ser31Asn chr22 39070395 39070398 VAR_007972 + P30566:p.Ile72Val chr22 39070479 39070482 VAR_017079 + P30566:p.Pro100Ala chr22 39070521 39070524 VAR_017080 + P30566:p.Tyr114His chr22 39085524 39085527 VAR_017091 + P30566:p.Asp430Asn chr2 216015524 216015527 VAR_019306 + P31939:p.Thr116Ser chr2 216035055 216035058 VAR_019307 + P31939:p.Lys426Arg chr8 31008892 31008895 VAR_036317 - Q9UJV8:p.Lys316Thr chr11 125271380 125271383 VAR_030836 - Q9BZE2:p.Tyr3Asp chr11 125271251 125271254 VAR_030837 - Q9BZE2:p.Ala46Ser chr11 125268955 125268958 VAR_030838 - Q9BZE2:p.Glu460Asp chr12 42435039 42435042 VAR_038392 - Q9H0K6:p.Ile92Met chr12 42434523 42434526 VAR_038393 - Q9H0K6:p.Lys264Glu chr12 42428560 42428563 VAR_038394 - Q9H0K6:p.Ile343Val chr1 1284559 1284562 VAR_034424 + Q8N0Z8:p.Arg103Gln chr1 157862732 157862735 VAR_034669 - Q96NY8:p.Phe53Leu chr19 49842453 49842456 VAR_003952 + P15151:p.Ala67Thr chr19 49853875 49853878 VAR_011736 + P15151:p.Ile340Met chr12 106599233 106599236 VAR_033808 + Q13610:p.Leu288Phe chr21 44353346 44353349 VAR_028104 + Q15269:p.Asp25Asn chr21 44366499 44366502 VAR_028105 + Q15269:p.Phe551Ile chr19 7453073 7453076 VAR_024560 - Q96HA9:p.Cys91Trp chr10 20546423 20546426 VAR_026292 + Q6UX71:p.Val396Ile chr10 20574338 20574341 VAR_026293 + Q6UX71:p.Ile458Val chr3 58369735 58369738 VAR_041362 + Q7Z7A4:p.Ile426Val chr3 58370901 58370904 VAR_041363 + Q7Z7A4:p.Lys481Arg chr3 58385562 58385565 VAR_033911 + Q7Z7A4:p.Ala525Val chr3 58385592 58385595 VAR_033912 + Q7Z7A4:p.Ala535Val chr20 31759199 31759202 VAR_015426 - Q9Y6I8:p.Val204Ile chr11 66395413 66395416 VAR_015199 - P11498:p.Val145Ala chr11 66387835 66387838 VAR_015200 - P11498:p.Arg451Cys chr11 66375988 66375991 VAR_008095 - P11498:p.Ala610Thr chr11 66374964 66374967 VAR_008096 - P11498:p.Met743Ile chr20 25207005 25207008 VAR_034428 + P11216:p.Ala303Ser chr20 25210768 25210771 VAR_020212 + P11216:p.Asp502Asn chr14 50457529 50457532 VAR_007907 - P06737:p.Val222Ile chr14 50457502 50457505 VAR_013095 - P06737:p.Val231Glu chr14 50453184 50453187 VAR_007908 - P06737:p.Asn339Ser chr14 50452400 50452403 VAR_007909 - P06737:p.Asn377Lys chr14 50451931 50451934 VAR_034425 - P06737:p.Arg425Pro chr14 50446445 50446448 VAR_034426 - P06737:p.Val698Gly chr14 50446394 50446397 VAR_013096 - P06737:p.Arg715Ser chr14 50441985 50441988 VAR_034427 - P06737:p.Ile806Leu chr11 64282560 64282563 VAR_014002 - P11217:p.Leu116Pro chr11 64281904 64281907 VAR_014003 - P11217:p.Arg194Trp chr11 64281871 64281874 VAR_003431 - P11217:p.Gly205Ser chr11 64278863 64278866 VAR_014004 - P11217:p.Leu292Pro chr11 64278345 64278348 VAR_014005 - P11217:p.Glu349Lys chr11 64277974 64277977 VAR_003432 - P11217:p.Leu397Pro chr11 64277174 64277177 VAR_014006 - P11217:p.Thr488Asn chr11 64276110 64276113 VAR_003433 - P11217:p.Lys543Thr chr11 64275665 64275668 VAR_014007 - P11217:p.Arg602Trp chr11 64275376 64275379 VAR_003434 - P11217:p.Glu655Lys chr11 64274620 64274623 VAR_014008 - P11217:p.Ala660Asp chr11 64274602 64274605 VAR_014009 - P11217:p.Gln666Glu chr11 64274545 64274548 VAR_014010 - P11217:p.Asn685Tyr chr11 64274542 64274545 VAR_014011 - P11217:p.Gly686Arg chr11 64274539 64274542 VAR_014012 - P11217:p.Ala687Pro chr11 64274488 64274491 VAR_014013 - P11217:p.Ala704Val chr11 64274473 64274476 VAR_014014 - P11217:p.709del chr11 64270841 64270844 VAR_014015 - P11217:p.Trp798Arg chr2 27357070 27357073 VAR_035897 + P27708:p.Arg177Gln chr2 27361396 27361399 VAR_035898 + P27708:p.Tyr735Cys chr3 125932095 125932098 VAR_020614 + P11172:p.Ser30Gly chr3 125936758 125936761 VAR_006807 + P11172:p.Arg96Gly chr3 125939118 125939121 VAR_006808 + P11172:p.Val109Gly chr3 125939430 125939433 VAR_006809 + P11172:p.Gly213Ala chr3 125945462 125945465 VAR_006810 + P11172:p.Gly429Arg chr3 125945513 125945516 VAR_020615 + P11172:p.Ile446Val chr16 70600182 70600185 VAR_022094 + Q02127:p.Lys7Gln chr1 41144944 41144947 VAR_027055 + P17812:p.Ser571Ile chr17 39386055 39386058 VAR_006382 - P10082:p.Thr72Arg chr12 9238056 9238059 VAR_034429 - P20742:p.Leu379Val chr12 9212765 9212768 VAR_021845 - P20742:p.Val691Met chr12 9209049 9209052 VAR_020005 - P20742:p.Val813Ala chr12 9201203 9201206 VAR_036235 - P20742:p.Arg1128His chr12 9194561 9194564 VAR_024358 - P20742:p.Ile1443Asn chr3 73516057 73516060 VAR_020965 - Q9UPQ7:p.Ala783Val chr15 26000585 26000588 VAR_020622 - Q04671:p.Arg10Trp chr15 26000534 26000537 VAR_006117 - Q04671:p.Gly27Arg chr15 25950873 25950876 VAR_006118 - Q04671:p.Ser86Arg chr15 25946790 25946793 VAR_006119 - Q04671:p.Cys112Phe chr15 25941293 25941296 VAR_020623 - Q04671:p.Pro198Leu chr15 25941254 25941272 VAR_006120 - Q04671:p.206_211del chr15 25941254 25941257 VAR_020624 - Q04671:p.Pro211Leu chr15 25937221 25937224 VAR_022019 - Q04671:p.Pro241Arg chr15 25937173 25937176 VAR_006121 - Q04671:p.Ala257Asp chr15 25937146 25937149 VAR_032094 - Q04671:p.Arg266Trp chr15 25934912 25934918 VAR_006122 - Q04671:p.Asn273_Trp274delinsLysVal chr15 25934864 25934867 VAR_020625 - Q04671:p.Arg290Gly chr15 25933645 25933648 VAR_006123 - Q04671:p.Arg305Trp chr15 25933558 25933561 VAR_020626 - Q04671:p.Ala334Val chr15 25933552 25933555 VAR_032095 - Q04671:p.Ala336Val chr15 25909382 25909385 VAR_020627 - Q04671:p.Val350Met chr15 25909328 25909331 VAR_006124 - Q04671:p.Ala368Val chr15 25909322 25909325 VAR_020628 - Q04671:p.Ile370Thr chr15 25908368 25908371 VAR_006125 - Q04671:p.Phe385Ile chr15 25908362 25908365 VAR_020629 - Q04671:p.Thr387Met chr15 25908341 25908344 VAR_020630 - Q04671:p.Met394Ile chr15 25905381 25905384 VAR_006126 - Q04671:p.Met395Leu chr15 25905354 25905357 VAR_006127 - Q04671:p.Thr404Met chr15 25903911 25903914 VAR_006128 - Q04671:p.Arg419Gln chr15 25903911 25903914 VAR_006129 - Q04671:p.Arg419Trp chr15 25903893 25903896 VAR_006130 - Q04671:p.425del chr15 25903848 25903851 VAR_007939 - Q04671:p.Leu440Phe chr15 25903848 25903851 VAR_006131 - Q04671:p.Leu440His chr15 25903839 25903842 VAR_006132 - Q04671:p.Val443Ile chr15 25903830 25903833 VAR_006133 - Q04671:p.Met446Val chr15 25902169 25902172 VAR_006134 - Q04671:p.Ile473Ser chr15 25902160 25902163 VAR_043700 - Q04671:p.Asn476Asp chr15 25902145 25902148 VAR_007940 - Q04671:p.Ala481Thr chr15 25902121 25902124 VAR_006135 - Q04671:p.Asn489Asp chr15 25885509 25885512 VAR_032096 - Q04671:p.Val519Ala chr15 25876465 25876468 VAR_006136 - Q04671:p.His549Gln chr15 25876432 25876435 VAR_032097 - Q04671:p.Arg560His chr15 25876336 25876339 VAR_006137 - Q04671:p.Thr592Ile chr15 25873898 25873901 VAR_020631 - Q04671:p.Lys614Glu chr15 25873898 25873901 VAR_006138 - Q04671:p.Lys614Asn chr15 25870630 25870633 VAR_006139 - Q04671:p.His615Arg chr15 25870624 25870627 VAR_020632 - Q04671:p.Ile617Leu chr15 25844990 25844993 VAR_006140 - Q04671:p.Trp652Arg chr15 25844912 25844915 VAR_020633 - Q04671:p.Glu678Lys chr15 25844909 25844912 VAR_020634 - Q04671:p.Trp679Cys chr15 25844909 25844912 VAR_006141 - Q04671:p.Trp679Arg chr15 25844882 25844885 VAR_020635 - Q04671:p.Leu688Phe chr15 25789978 25789981 VAR_020636 - Q04671:p.Arg720Cys chr15 25789972 25789975 VAR_006142 - Q04671:p.Ile722Thr chr15 25789966 25789969 VAR_006143 - Q04671:p.Ala724Pro chr15 25789930 25789933 VAR_006144 - Q04671:p.Ser736Leu chr15 25789909 25789912 VAR_006145 - Q04671:p.Pro743Leu chr15 25770141 25770144 VAR_036468 - Q04671:p.Ala773Thr chr15 25770135 25770138 VAR_043701 - Q04671:p.Gly775Arg chr15 25763770 25763773 VAR_006146 - Q04671:p.Ala787Val chr15 25763746 25763749 VAR_020637 - Q04671:p.Gly795Arg chr15 25763734 25763737 VAR_020638 - Q04671:p.Gln799His chr15 25674164 25674167 VAR_043702 - Q04671:p.Tyr827His chr15 25674146 25674149 VAR_021682 - Q04671:p.833del chr16 21881634 21881637 VAR_029336 + P22695:p.Arg148Ser chr16 21884261 21884264 VAR_034582 + P22695:p.Arg183Gln chr16 21887458 21887461 VAR_036479 + P22695:p.Phe208Tyr chr16 21890435 21890438 VAR_034583 + P22695:p.Arg254His chr1 46487915 46487918 VAR_034579 + P07919:p.Glu51Gln chr6 163958234 163958237 VAR_036051 + Q96PU8:p.Arg336Gln chr2 24215418 24215421 VAR_033032 - Q53FA7:p.Met180Lys chr1 74900888 74900891 VAR_022913 - Q08257:p.Pro66Ser chr1 74887904 74887907 VAR_022914 - Q08257:p.Ile176Val chr19 50893650 50893653 VAR_034937 + Q9NXS2:p.Pro214Leu chr2 37491672 37491675 VAR_005569 + Q16769:p.Gln71Arg chr11 32913535 32913538 VAR_032536 + Q2KHR3:p.Ser1018Asn chr11 116251863 116251866 VAR_035634 - Q9Y2K2:p.His331Leu chr11 116233763 116233766 VAR_035635 - Q9Y2K2:p.Ala1103Val chr1 176867356 176867359 VAR_027429 + O00391:p.Asn114Ser chr1 176879667 176879670 VAR_027430 + O00391:p.Gly200Ala chr1 176884720 176884723 VAR_027431 + O00391:p.Arg256Met chr1 176884834 176884837 VAR_027432 + O00391:p.Ala294Ser chr1 176895045 176895048 VAR_027433 + O00391:p.His444Arg chr1 176897355 176897358 VAR_027434 + O00391:p.Asn591His chr9 136344615 136344618 VAR_027435 - Q6ZRP7:p.Lys126Glu chr11 61432218 61432221 VAR_035203 - Q8TBN0:p.Gln49Arg chr11 61426519 61426522 VAR_035204 - Q8TBN0:p.His323Tyr chr8 23208243 23208246 VAR_035421 + Q9Y3T6:p.Arg185Lys chr19 37859294 37859297 VAR_032333 + Q6ZS82:p.Ala96Ser chr14 67360037 67360040 VAR_025243 + O15315:p.Val9Met chr14 67371594 67371597 VAR_025244 + O15315:p.Phe82Cys chr14 67422399 67422402 VAR_025245 + O15315:p.Leu172Trp chr14 67422423 67422426 VAR_025246 + O15315:p.Tyr180Cys chr14 67423536 67423539 VAR_035437 + O15315:p.Val207Leu chr14 67423644 67423647 VAR_025247 + O15315:p.Lys243Arg chr14 67423665 67423668 VAR_025248 + O15315:p.Ser250Ala chr17 54129077 54129080 VAR_020518 + O43502:p.Ile144Thr chr17 54142257 54142260 VAR_020519 + O43502:p.Arg249Cys chr17 54153126 54153129 VAR_020520 + O43502:p.Thr287Ala chr17 30470673 30470676 VAR_020560 - O75771:p.Arg24Ser chr17 30457598 30457601 VAR_020561 - O75771:p.Arg165Gln chr17 30454448 30454451 VAR_020562 - O75771:p.Ala225Thr chr17 30454427 30454430 VAR_020563 - O75771:p.Arg232Gln chr17 30454424 30454427 VAR_020564 - O75771:p.Glu233Gly chr8 95548853 95548856 VAR_034430 - Q9Y620:p.Leu30Val chr8 95539684 95539687 VAR_037885 - Q9Y620:p.Asp97His chr8 95480941 95480944 VAR_019563 - Q9Y620:p.Asp418Tyr chr8 95473042 95473045 VAR_019564 - Q9Y620:p.Asn593Ser chr9 121035232 121035235 VAR_012986 - P61106:p.Ala4Thr chr2 238265727 238265730 VAR_022102 - Q9H0T7:p.Leu191Pro chr10 27866956 27866959 VAR_034432 + Q9NP72:p.Ala198Thr chr13 109974315 109974318 VAR_017158 - Q9NX57:p.Asn134Ser chr6 57183098 57183101 VAR_034900 - Q9ULC3:p.13del chr6 57183017 57183020 VAR_034901 - Q9ULC3:p.Lys40Arg chr6 57169349 57169352 VAR_034902 - Q9ULC3:p.Cys85Arg chr6 57169301 57169304 VAR_034903 - Q9ULC3:p.Ser101Ala chr6 57163310 57163313 VAR_017159 - Q9ULC3:p.Gly207Ser chr17 24066189 24066192 VAR_015097 - Q9BZG1:p.Val197Leu chr22 21812253 21812256 VAR_034433 + O95755:p.Pro50Leu chr22 21827723 21827726 VAR_024189 + O95755:p.Asn308Asp chr17 70252813 70252816 VAR_034434 + Q96AX2:p.Ala188Pro chr11 87522640 87522643 VAR_036415 - P57729:p.Lys111Thr chr17 37535926 37535929 VAR_036414 - P51148:p.Arg40His chr3 129999523 129999526 VAR_037886 + P51149:p.Lys32Glu chr3 130008116 130008119 VAR_018722 + P51149:p.Leu129Phe chr3 130009152 130009155 VAR_037887 + P51149:p.Lys157Asn chr3 130009164 130009167 VAR_037888 + P51149:p.Asn161Thr chr3 130009167 130009170 VAR_018723 + P51149:p.Val162Met chr17 5217365 5217368 VAR_028106 + Q15276:p.Glu640Gly chr9 125049520 125049523 VAR_031175 + Q7Z6M1:p.Arg60Gly chr9 125049541 125049544 VAR_031176 + Q7Z6M1:p.Thr67Pro chr9 125055207 125055210 VAR_031177 + Q7Z6M1:p.His73Tyr chr9 125075630 125075633 VAR_031178 + Q7Z6M1:p.Asp313Gly chr9 125075690 125075693 VAR_031179 + Q7Z6M1:p.Met333Ile chr7 6200122 6200125 VAR_014540 + P63000:p.Asn26Asp chr7 6200128 6200131 VAR_014541 + P63000:p.Phe28Leu chr7 6204861 6204864 VAR_014542 + P63000:p.Ala59Thr chr7 6204873 6204876 VAR_014543 + P63000:p.Asp63Gly chr7 6213047 6213050 VAR_014545 + P63000:p.Val93Gly chr7 6213047 6213050 VAR_014544 + P63000:p.Val93Ile chr7 6214771 6214774 VAR_014546 + P63000:p.Thr108Ile chr7 6214837 6214840 VAR_014547 + P63000:p.Lys130Arg chr7 6214846 6214849 VAR_014548 + P63000:p.Lys133Glu chr7 6214852 6214855 VAR_033303 + P63000:p.Thr135Ile chr7 6215275 6215278 VAR_014549 + P63000:p.Pro180Ser chr7 6215281 6215284 VAR_014550 + P63000:p.Val182Glu chr22 35962146 35962149 VAR_036569 - P15153:p.Pro29Leu chr22 35953394 35953397 VAR_017452 - P15153:p.Asp57Asn chr5 68705463 68705466 VAR_021574 + O75943:p.Val32Ile chr5 68727982 68727985 VAR_021575 + O75943:p.Arg487Leu chr5 68728126 68728129 VAR_021576 + O75943:p.Lys535Glu chr5 68731694 68731697 VAR_021577 + O75943:p.Leu557Arg chr3 8980051 8980054 VAR_023423 - Q9NS91:p.Glu6Ala chr3 8930372 8930375 VAR_023425 - Q9NS91:p.Ile307Val chr8 117933394 117933397 VAR_014281 - O60216:p.Gly481Arg chr5 131939433 131939436 VAR_025526 + Q92878:p.Ile94Leu chr5 131942920 131942923 VAR_029168 + Q92878:p.Val127Ile chr5 131943471 131943474 VAR_022085 + Q92878:p.Thr191Ile chr5 131943477 131943480 VAR_029169 + Q92878:p.Arg193Trp chr5 131943570 131943573 VAR_025527 + Q92878:p.Arg224His chr5 131951571 131951574 VAR_034436 + Q92878:p.Val315Leu chr5 131958511 131958514 VAR_020958 + Q92878:p.Lys616Glu chr5 131959282 131959285 VAR_020959 + Q92878:p.Val697Ala chr5 131967636 131967637 VAR_029170 + Q92878:p.Val842Ala chr5 131968396 131968398 VAR_029170 + Q92878:p.Val842Ala chr5 131972767 131972770 VAR_020960 + Q92878:p.Tyr964His chr5 131972794 131972797 VAR_020961 + Q92878:p.Lys973Met chr5 131979668 131979671 VAR_020962 + Q92878:p.Arg1038Gly chr15 38798306 38798309 VAR_010899 + Q06609:p.Arg150Gln chr12 909547 909550 VAR_019218 - P43351:p.Arg70Trp chr12 896127 896130 VAR_019219 - P43351:p.Gln221Glu chr12 895774 895777 VAR_019220 - P43351:p.Ser287Asn chr11 66916097 66916100 VAR_025410 + Q99638:p.Cys3Phe chr11 66917605 66917608 VAR_025411 + Q99638:p.Ser100Ala chr11 66920202 66920205 VAR_025412 + Q99638:p.His239Arg chr11 66921271 66921274 VAR_025413 + Q99638:p.Met307Thr chr11 109623743 109623746 VAR_036857 - P35241:p.Lys328Glu chr11 109609288 109609291 VAR_036858 - P35241:p.Asp490Asn chr11 109607821 109607824 VAR_036859 - P35241:p.Asp578Asn chrX 84961795 84961798 VAR_008273 - P24386:p.Gln471Leu chr3 12620700 12620703 VAR_037807 - P04049:p.Arg256Ser chr3 12620697 12620700 VAR_037808 - P04049:p.Ser257Leu chr3 12620691 12620694 VAR_041037 - P04049:p.Ser259Ala chr3 12620691 12620694 VAR_037809 - P04049:p.Ser259Phe chr3 12620688 12620691 VAR_037810 - P04049:p.Thr260Ile chr3 12620688 12620691 VAR_037811 - P04049:p.Thr260Arg chr3 12620685 12620688 VAR_037812 - P04049:p.Pro261Ala chr3 12620685 12620688 VAR_037813 - P04049:p.Pro261Leu chr3 12620685 12620688 VAR_037814 - P04049:p.Pro261Ser chr3 12620679 12620682 VAR_037815 - P04049:p.Val263Ala chr3 12616716 12616719 VAR_018840 - P04049:p.Pro308Leu chr3 12616292 12616295 VAR_041038 - P04049:p.Gln335His chr3 12602257 12602260 VAR_037816 - P04049:p.Asp486Gly chr3 12602257 12602260 VAR_037817 - P04049:p.Asp486Asn chr3 12602242 12602245 VAR_037818 - P04049:p.Thr491Ile chr3 12602242 12602245 VAR_037819 - P04049:p.Thr491Arg chr3 12601123 12601126 VAR_037820 - P04049:p.Ser612Thr chr3 12601120 12601123 VAR_037821 - P04049:p.Leu613Val chr11 36551895 36551898 VAR_007800 + P15918:p.Ala156Val chr11 36551934 36551937 VAR_029260 + P15918:p.Ser169Leu chr11 36552159 36552162 VAR_007801 + P15918:p.Arg244Gly chr11 36552168 36552171 VAR_029261 + P15918:p.Arg247His chr11 36552333 36552336 VAR_020113 + P15918:p.Asp302Glu chr11 36552411 36552414 VAR_025971 + P15918:p.Cys328Tyr chr11 36552615 36552618 VAR_008886 + P15918:p.Arg396Cys chr11 36552615 36552618 VAR_008887 + P15918:p.Arg396His chr11 36552615 36552618 VAR_025972 + P15918:p.Arg396Leu chr11 36552630 36552633 VAR_025973 + P15918:p.Ser401Pro chr11 36552657 36552660 VAR_025974 + P15918:p.Arg410Gln chr11 36552714 36552717 VAR_008888 + P15918:p.Asp429Gly chr11 36552726 36552729 VAR_025975 + P15918:p.Val433Met chr11 36552732 36552735 VAR_025976 + P15918:p.Met435Val chr11 36552759 36552762 VAR_025977 + P15918:p.Ala444Val chr11 36552774 36552777 VAR_029262 + P15918:p.Arg449Lys chr11 36552849 36552852 VAR_025978 + P15918:p.Arg474His chr11 36552948 36552951 VAR_025979 + P15918:p.Arg507Trp chr11 36552993 36552996 VAR_025980 + P15918:p.Trp522Cys chr11 36553002 36553005 VAR_029263 + P15918:p.Pro525Ser chr11 36553104 36553107 VAR_025981 + P15918:p.Arg559Ser chr11 36553110 36553113 VAR_008890 + P15918:p.Arg561Cys chr11 36553110 36553113 VAR_008889 + P15918:p.Arg561His chr11 36553299 36553302 VAR_025982 + P15918:p.Arg624Cys chr11 36553299 36553302 VAR_007803 + P15918:p.Arg624His chr11 36553434 36553437 VAR_025983 + P15918:p.Glu669Gly chr11 36553593 36553596 VAR_007804 + P15918:p.Glu722Lys chr11 36553638 36553641 VAR_008891 + P15918:p.Arg737His chr11 36553686 36553689 VAR_025984 + P15918:p.His753Leu chr11 36553887 36553890 VAR_008892 + P15918:p.Lys820Arg chr11 36553950 36553953 VAR_025985 + P15918:p.Arg841Trp chr11 36553992 36553995 VAR_025986 + P15918:p.Asn855Ile chr11 36554067 36554070 VAR_020114 + P15918:p.Glu880Lys chr11 36554082 36554085 VAR_008893 + P15918:p.Leu885Arg chr11 36554088 36554091 VAR_029264 + P15918:p.Asp887Asn chr11 36554163 36554166 VAR_008894 + P15918:p.Tyr912Cys chr11 36554352 36554355 VAR_025987 + P15918:p.Arg975Gln chr11 36554370 36554373 VAR_025988 + P15918:p.Gln981Pro chr11 36572171 36572174 VAR_008895 - P55895:p.Cys41Trp chr11 36571607 36571610 VAR_005570 - P55895:p.Arg229Gln chr11 36571439 36571442 VAR_008896 - P55895:p.Met285Arg chr11 36570860 36570863 VAR_005571 - P55895:p.Cys478Tyr chr6 32259418 32259421 VAR_024500 - Q15109:p.Gly82Ser chr6 32259364 32259367 VAR_011338 - Q15109:p.Gln100Arg chr22 39985248 39985251 VAR_029240 - P46060:p.Glu133Gln chr5 34793422 34793425 VAR_026673 + Q9P0K7:p.Ala44Thr chr17 17637479 17637482 VAR_024344 + Q7Z5J4:p.Pro165Thr chr12 12952801 12952804 VAR_018296 + Q8NFJ5:p.Ser118Gly chr20 32128266 32128269 VAR_015223 + Q9UKM9:p.Gln215Arg chr20 32128586 32128589 VAR_015224 + Q9UKM9:p.Gly251Ser chr11 35419722 35419725 VAR_032335 - Q6UXH9:p.Ala305Thr chr22 18481119 18481122 VAR_036567 + P43487:p.Glu16Asp chr12 51891810 51891813 VAR_038554 - P13631:p.Ser427Leu chr12 51891801 51891804 VAR_036061 - P13631:p.Gly430Ser chr5 86680875 86680878 VAR_002650 + P20936:p.Arg398Leu chr5 86680881 86680884 VAR_002651 + P20936:p.Lys400Glu chr5 86680884 86680887 VAR_002652 + P20936:p.Ile401Val chr5 86701392 86701395 VAR_017744 + P20936:p.Cys540Tyr chr9 82856959 82856962 VAR_034858 - Q8IZ41:p.Arg262Cys chr3 50353177 50353180 VAR_019542 - Q9NS23:p.Lys21Gln chr3 50353081 50353084 VAR_019543 - Q9NS23:p.Arg53Cys chr3 50344559 50344562 VAR_019544 - Q9NS23:p.Asp133Glu chr3 50344553 50344556 VAR_019545 - Q9NS23:p.Ser135Phe chr3 50344547 50344550 VAR_019546 - Q9NS23:p.Ala137Ser chr3 50343063 50343066 VAR_019547 - Q9NS23:p.Tyr329Cys chr20 4719201 4719204 VAR_035825 - P50749:p.Arg144His chr12 63374935 63374938 VAR_026724 + Q86WH2:p.Arg232His chr4 74816105 74816108 VAR_026725 - Q6ZTQ3:p.Ser163Pro chr4 74807382 74807385 VAR_034440 - Q6ZTQ3:p.Ala306Gly chr11 552218 552221 VAR_021859 + Q02833:p.Pro89Ala chr11 552419 552422 VAR_021860 + Q02833:p.Arg156Gln chr11 524286 524289 VAR_026106 - P01112:p.Gly12Ala chr11 524286 524289 VAR_006837 - P01112:p.Gly12Ser chr11 524286 524289 VAR_006836 - P01112:p.Gly12Val chr11 524283 524286 VAR_026107 - P01112:p.Gly13Cys chr11 524283 524286 VAR_026108 - P01112:p.Gly13Asp chr11 523872 523875 VAR_006838 - P01112:p.Gln61Leu chr12 25289555 25289558 VAR_034601 - P01116:p.Gly10Gly chr12 25289549 25289552 VAR_036305 - P01116:p.Gly12Ala chr12 25289549 25289552 VAR_006839 - P01116:p.Gly12Cys chr12 25289549 25289552 VAR_016026 - P01116:p.Gly12Asp chr12 25289549 25289552 VAR_016027 - P01116:p.Gly12Arg chr12 25289549 25289552 VAR_016028 - P01116:p.Gly12Ser chr12 25289549 25289552 VAR_006840 - P01116:p.Gly12Val chr12 25289546 25289549 VAR_016029 - P01116:p.Gly13Asp chr12 25289543 25289546 VAR_026109 - P01116:p.Val14Ile chr12 25289483 25289486 VAR_026110 - P01116:p.Pro34Arg chr12 25271550 25271553 VAR_026111 - P01116:p.Thr58Ile chr12 25271547 25271550 VAR_016030 - P01116:p.Ala59Thr chr12 25271544 25271547 VAR_026112 - P01116:p.Gly60Arg chr12 25271541 25271544 VAR_006841 - P01116:p.Gln61His chr12 25271541 25271544 VAR_036306 - P01116:p.Gln61Arg chr12 25269913 25269916 VAR_036307 - P01116:p.Lys117Asn chr12 25269826 25269829 VAR_036308 - P01116:p.Ala146Thr chr12 112035954 112035957 VAR_031665 - O95294:p.Val11Leu chr12 112028651 112028654 VAR_031666 - O95294:p.Thr58Met chr7 101829550 101829553 VAR_027680 - O43374:p.Met352Val chr7 101828361 101828364 VAR_027681 - O43374:p.Arg432Pro chr1 114970787 114970790 VAR_021194 - P01111:p.Gly12Cys chr1 114970784 114970787 VAR_006845 - P01111:p.Gly13Arg chr1 114968569 114968572 VAR_006846 - P01111:p.Gln61Lys chr1 114968569 114968572 VAR_006847 - P01111:p.Gln61Arg chr19 3721912 3721915 VAR_031907 - Q96IS3:p.Arg87Gln chr19 3721762 3721765 VAR_031908 - Q96IS3:p.Gly137Arg chr19 3721753 3721756 VAR_031909 - Q96IS3:p.Pro140Pro chr15 53309943 53309946 VAR_028206 - P51159:p.Thr62Ser chr15 53309910 53309913 VAR_010654 - P51159:p.Trp73Gly chr15 53308189 53308192 VAR_028207 - P51159:p.Leu84Phe chr15 53308186 53308189 VAR_028208 - P51159:p.Thr85Pro chr15 53303455 53303458 VAR_011334 - P51159:p.Leu130Pro chr15 53303389 53303392 VAR_011335 - P51159:p.Ala152Pro chrX 129043838 129043841 VAR_006849 + Q14088:p.Met102Thr chr8 95743770 95743773 VAR_030073 + Q6NXG1:p.Tyr196Cys chrX 102561694 102561697 VAR_034435 - Q8WXH6:p.His45Leu chr7 4877012 4877015 VAR_038438 + Q9NYW8:p.Gly229Glu chr16 24486037 24486040 VAR_026216 + Q7Z6E9:p.Val555Ala chr18 18826946 18826949 VAR_028308 + Q99708:p.His387Tyr chr8 53749257 53749260 VAR_023776 - Q8TDY2:p.Met234Thr chr8 53703238 53703241 VAR_033031 - Q8TDY2:p.Arg1514Cys chr18 75898479 75898482 VAR_023233 + Q8N0V3:p.Val122Met chr18 75906843 75906846 VAR_023234 + Q8N0V3:p.Asn245His chr18 75906936 75906939 VAR_023235 + Q8N0V3:p.Lys276Gln chr1 216732845 216732848 VAR_021588 - Q9H2M9:p.Thr863Ala chr1 216719598 216719601 VAR_021589 - Q9H2M9:p.Ser1092Thr chr20 35060677 35060680 VAR_034443 - P28749:p.Ile1035Met chrX 46796096 46796099 VAR_035486 + P98175:p.Arg395His chr21 14518642 14518645 VAR_024621 + P57052:p.Leu116Val chr8 33475614 33475617 VAR_023076 + Q9BXY0:p.Gln277Arg chr12 112745214 112745217 VAR_023117 - Q9Y4C8:p.Arg921Gln chr14 22441095 22441098 VAR_016841 - Q86U06:p.Ala393Ala chr20 33792204 33792207 VAR_015228 - Q14498:p.Ala2Val chrX 106117015 106117018 VAR_028897 - Q96IZ5:p.His376Tyr chr2 151933224 151933227 VAR_033722 - Q6ZSC3:p.Ile259Val chr3 49980918 49980921 VAR_014226 + P78332:p.Ser353Phe chrX 129272246 129272249 VAR_033724 + Q9Y388:p.Arg287His chr2 108826854 108826857 VAR_029765 + P49792:p.Val548Leu chr2 108826950 108826953 VAR_029766 + P49792:p.Glu580Lys chr2 108826953 108826956 VAR_029767 + P49792:p.Cys581Tyr chr2 108830025 108830028 VAR_023939 + P49792:p.Arg784Lys chr2 108841120 108841123 VAR_029768 + P49792:p.Pro1870Leu chr2 108841186 108841189 VAR_014886 + P49792:p.Pro1892Ala chr13 47779492 47779495 VAR_005572 + P06400:p.Glu72Gln chr13 47817244 47817247 VAR_005573 + P06400:p.Glu137Asp chr13 47821105 47821108 VAR_005574 + P06400:p.Ile185Thr chr13 47837096 47837099 VAR_010045 + P06400:p.Gly310Glu chr13 47840685 47840688 VAR_010046 + P06400:p.Arg358Gly chr13 47840685 47840688 VAR_005575 + P06400:p.Arg358Gln chr13 47849144 47849147 VAR_019379 + P06400:p.Gln436Lys chr13 47851736 47851739 VAR_010048 + P06400:p.Lys447Gln chr13 47851766 47851769 VAR_005576 + P06400:p.Met457Arg chr13 47852317 47852320 VAR_005577 + P06400:p.480del chr13 47852377 47852378 VAR_011580 + P06400:p.Arg500Gly chr13 47853383 47853385 VAR_011580 + P06400:p.Arg500Gly chr13 47853457 47853460 VAR_019380 + P06400:p.Ala525Gly chr13 47853472 47853475 VAR_010049 + P06400:p.Lys530Arg chr13 47853529 47853532 VAR_005578 + P06400:p.His549Tyr chr13 47925132 47925135 VAR_005579 + P06400:p.Ser567Leu chr13 47928371 47928374 VAR_011581 + P06400:p.Lys616Glu chr13 47928428 47928431 VAR_005580 + P06400:p.Ala635Pro chr13 47928485 47928486 VAR_005581 + P06400:p.Val654Glu chr13 47931824 47931826 VAR_005581 + P06400:p.Val654Glu chr13 47931832 47931835 VAR_010050 + P06400:p.Leu657Pro chr13 47931844 47931847 VAR_005582 + P06400:p.Arg661Trp chr13 47931847 47931850 VAR_005583 + P06400:p.Leu662Pro chr13 47931880 47931883 VAR_005584 + P06400:p.His673Pro chr13 47931916 47931919 VAR_005585 + P06400:p.Gln685Pro chr13 47935876 47935879 VAR_005586 + P06400:p.Cys706Tyr chr13 47935894 47935897 VAR_005587 + P06400:p.Cys712Arg chr13 47937158 47937161 VAR_034442 + P06400:p.Glu746Gly chr13 47937422 47937425 VAR_005588 + P06400:p.Asn803Lys chr1 24607052 24607055 VAR_033727 + Q9UKA8:p.Thr236Asn chr13 49039344 49039347 VAR_024757 - Q8NDN9:p.Ala24Val chr13 49006354 49006357 VAR_024830 - Q8NDN9:p.Thr500Ile chr13 47982902 47982905 VAR_024758 - O95199:p.Ala263Thr chr13 47962358 47962361 VAR_024759 - O95199:p.Cys515Ser chr11 32069528 32069531 VAR_011964 + Q15293:p.Thr71Asn chr11 32069534 32069537 VAR_011965 + Q15293:p.Asp73Tyr chr11 32069537 32069540 VAR_011966 + Q15293:p.Gln74Glu chr11 32075359 32075362 VAR_035460 + Q15293:p.Phe117Leu chr11 32076584 32076587 VAR_011967 + Q15293:p.Arg188Pro chr19 54737689 54737692 VAR_033696 + Q96D15:p.Arg250Trp chr11 63435942 63435945 VAR_025516 - Q8IZ40:p.Thr514Ala chr1 207833042 207833045 VAR_025517 + Q9P2K3:p.Lys42Arg chr19 12920146 12920149 VAR_016251 + P54725:p.Thr131Ala chr19 12920561 12920564 VAR_020377 + P54725:p.Arg179Gln chr19 12920624 12920627 VAR_016252 + P54725:p.Thr200Met chr9 107163881 107163884 VAR_014350 + P54727:p.Ala249Val chr1 208043134 208043137 VAR_031510 - Q7Z3Z2:p.Trp6Arg chr1 208043083 208043086 VAR_031511 - Q7Z3Z2:p.Glu23Asp chr1 208043047 208043050 VAR_031512 - Q7Z3Z2:p.Gly35Arg chr1 208043011 208043014 VAR_023050 - Q7Z3Z2:p.Arg47Cys chr1 208042981 208042984 VAR_031513 - Q7Z3Z2:p.Gly57Val chr1 208042948 208042951 VAR_031514 - Q7Z3Z2:p.Arg68Trp chr1 208040970 208040973 VAR_031515 - Q7Z3Z2:p.Lys130Met chr1 208040859 208040862 VAR_031516 - Q7Z3Z2:p.Arg167Lys chr1 208040775 208040778 VAR_031517 - Q7Z3Z2:p.Asp195Val chr14 67261018 67261021 VAR_020858 + Q96NR8:p.Thr49Met chr14 67261024 67261027 VAR_020859 + Q96NR8:p.Ile51Asn chr14 67261675 67261678 VAR_020860 + Q96NR8:p.Leu99Ile chr14 67263452 67263455 VAR_020861 + Q96NR8:p.His151Asp chr14 67263452 67263455 VAR_020862 + Q96NR8:p.His151Asn chr14 67263482 67263485 VAR_028281 + Q96NR8:p.Arg161Gln chr14 67263524 67263527 VAR_020863 + Q96NR8:p.Ser175Pro chr14 67265677 67265680 VAR_020864 + Q96NR8:p.Tyr226Cys chr14 67265689 67265692 VAR_020865 + Q96NR8:p.Pro230Ala chr12 54401331 54401334 VAR_009272 + Q92781:p.Ile33Val chr12 54401337 54401340 VAR_016814 + Q92781:p.Gly35Ser chr12 54401451 54401454 VAR_009273 + Q92781:p.Ser73Phe chr12 54401747 54401750 VAR_016815 + Q92781:p.Gly107Arg chr12 54401822 54401825 VAR_016816 + Q92781:p.Val132Met chr12 54401918 54401921 VAR_016817 + Q92781:p.Val164Phe chr12 54401957 54401960 VAR_016818 + Q92781:p.Val177Gly chr12 54404078 54404081 VAR_009274 + Q92781:p.Gly238Trp chr12 54404437 54404440 VAR_016819 + Q92781:p.Cys267Trp chr12 54404476 54404479 VAR_016820 + Q92781:p.Arg280His chr12 54404479 54404482 VAR_016821 + Q92781:p.Tyr281His chr12 54404518 54404521 VAR_016822 + Q92781:p.Ala294Pro chr12 54404566 54404569 VAR_016823 + Q92781:p.Leu310Glu chr19 9990549 9990552 VAR_035232 + Q9NYR8:p.His136Gln chr19 9992997 9993000 VAR_035233 + Q9NYR8:p.Met202Thr chr8 57391274 57391277 VAR_035234 - Q8N3Y7:p.Arg62Trp chr17 31281748 31281751 VAR_034835 - Q8NG50:p.His32Arg chr17 31276649 31276652 VAR_034836 - Q8NG50:p.Cys127Trp chr9 36077875 36077878 VAR_034021 + O95980:p.Val275Ile chr12 21534487 21534490 VAR_034679 - P46063:p.Val102Ile chr12 21515834 21515837 VAR_016140 - P46063:p.Lys487Thr chr12 21515810 21515813 VAR_016141 - P46063:p.Asp495His chr17 71139132 71139135 VAR_024272 - O94762:p.Asp480Gly chr10 1411323 1411326 VAR_020438 - Q9NS39:p.Ala44Thr chr10 1395669 1395672 VAR_035806 - Q9NS39:p.Thr210Met chr10 1253036 1253039 VAR_035807 - Q9NS39:p.Val512Ile chr2 86420995 86420998 VAR_027351 - Q9H902:p.Ala20Glu chr9 5329662 5329665 VAR_011962 - P04808:p.Lys28Met chr9 5294496 5294499 VAR_034444 - P04090:p.Met28Lys chr9 5294376 5294379 VAR_022124 - P04090:p.Pro68Gln chrX 118759135 118759138 VAR_037666 - Q9BZI7:p.Tyr160Asp chr10 90332816 90332819 VAR_023310 - Q5VYX0:p.Glu37Asp chrX 152729333 152729336 VAR_029339 - P51606:p.Gln159Arg chr1 200862137 200862140 VAR_035088 - P00797:p.Asp104Asn chr1 200861356 200861359 VAR_029171 - P00797:p.Gln160Lys chr1 200860221 200860224 VAR_020376 - P00797:p.Gly217Arg chr10 12086550 12086553 VAR_024345 - Q9HAU5:p.Asn496Ser chr7 149506299 149506302 VAR_030367 + Q9BWE0:p.Ala97Val chr4 57637827 57637830 VAR_029795 + Q13127:p.Val626Ile chr4 57638025 57638028 VAR_029796 + Q13127:p.Glu692Asp chr4 57638340 57638343 VAR_029798 + Q13127:p.Pro797Leu chr12 7172144 7172147 VAR_034445 - P82980:p.Glu70Gln chr12 7168507 7168510 VAR_034446 - P82980:p.Met115Leu chr10 95350484 95350487 VAR_009276 - P02753:p.Ile59Asn chr10 95350215 95350218 VAR_009277 - P02753:p.Gly93Asp chr2 85482513 85482516 VAR_025473 - Q6NUM9:p.Ala533Val chr10 42892769 42892772 VAR_009459 + P07949:p.Pro20Leu chr10 42915932 42915935 VAR_006295 + P07949:p.Ser32Leu chr10 42915956 42915959 VAR_009492 + P07949:p.Leu40Pro chr10 42916028 42916031 VAR_006296 + P07949:p.Pro64Leu chr10 42916037 42916040 VAR_018153 + P07949:p.Arg67His chr10 42916067 42916070 VAR_009460 + P07949:p.Arg77Cys chr10 42916115 42916118 VAR_006297 + P07949:p.Gly93Ser chr10 42917797 42917800 VAR_018154 + P07949:p.Arg114His chr10 42917881 42917884 VAR_006298 + P07949:p.Cys142Ser chr10 42917890 42917893 VAR_035711 + P07949:p.Val145Gly chr10 42917926 42917929 VAR_009461 + P07949:p.Cys157Tyr chr10 42917944 42917947 VAR_041762 + P07949:p.Arg163Gln chr10 42917977 42917980 VAR_009462 + P07949:p.Phe174Ser chr10 42917995 42917998 VAR_009463 + P07949:p.Arg180Pro chr10 42918046 42918049 VAR_009464 + P07949:p.Cys197Tyr chr10 42920470 42920473 VAR_006299 + P07949:p.Arg231His chr10 42920530 42920533 VAR_006300 + P07949:p.Glu251Lys chr10 42920611 42920614 VAR_041763 + P07949:p.Thr278Asn chr10 42920638 42920641 VAR_006301 + P07949:p.Arg287Gln chr10 42921835 42921838 VAR_041764 + P07949:p.Val292Met chr10 42921898 42921901 VAR_009465 + P07949:p.Arg313Gln chr10 42921949 42921952 VAR_006302 + P07949:p.Arg330Gln chr10 42924495 42924498 VAR_009466 + P07949:p.Asn359Lys chr10 42924498 42924501 VAR_009467 + P07949:p.Arg360Trp chr10 42924597 42924600 VAR_006303 + P07949:p.Phe393Leu chr10 42924600 42924603 VAR_009468 + P07949:p.Asn394Lys chr10 42924615 42924618 VAR_006304 + P07949:p.Pro399Leu chr10 42926690 42926693 VAR_018155 + P07949:p.Ala432Glu chr10 42926819 42926822 VAR_006305 + P07949:p.Arg475Gln chr10 42926861 42926864 VAR_018156 + P07949:p.Asp489Asn chr10 42927620 42927623 VAR_009469 + P07949:p.Cys531Cys chr10 42929026 42929029 VAR_035712 + P07949:p.Gly593Glu chr10 42929047 42929050 VAR_008966 + P07949:p.Arg600Gln chr10 42929074 42929077 VAR_009470 + P07949:p.Cys609Gly chr10 42929074 42929077 VAR_009471 + P07949:p.Cys609Arg chr10 42929074 42929077 VAR_006307 + P07949:p.Cys609Trp chr10 42929074 42929077 VAR_006306 + P07949:p.Cys609Tyr chr10 42929080 42929083 VAR_009472 + P07949:p.Cys611Gly chr10 42929080 42929083 VAR_009473 + P07949:p.Cys611Arg chr10 42929080 42929083 VAR_009474 + P07949:p.Cys611Ser chr10 42929080 42929083 VAR_006308 + P07949:p.Cys611Trp chr10 42929080 42929083 VAR_006309 + P07949:p.Cys611Tyr chr10 42929101 42929104 VAR_006312 + P07949:p.Cys618Phe chr10 42929101 42929104 VAR_006310 + P07949:p.Cys618Gly chr10 42929101 42929104 VAR_006311 + P07949:p.Cys618Arg chr10 42929101 42929104 VAR_006313 + P07949:p.Cys618Ser chr10 42929101 42929104 VAR_006314 + P07949:p.Cys618Tyr chr10 42929107 42929110 VAR_006318 + P07949:p.Cys620Phe chr10 42929107 42929110 VAR_006315 + P07949:p.Cys620Gly chr10 42929107 42929110 VAR_006316 + P07949:p.Cys620Arg chr10 42929107 42929110 VAR_006317 + P07949:p.Cys620Ser chr10 42929107 42929110 VAR_009475 + P07949:p.Cys620Trp chr10 42929107 42929110 VAR_006319 + P07949:p.Cys620Tyr chr10 42929125 42929128 VAR_009476 + P07949:p.Gln626Lys chr10 42929941 42929944 VAR_006320 + P07949:p.Cys630Phe chr10 42929941 42929944 VAR_009477 + P07949:p.Cys630Ser chr10 42929941 42929944 VAR_009478 + P07949:p.Cys630Tyr chr10 42929944 42929947 VAR_006321 + P07949:p.Asp631Gly chr10 42929947 42929956 VAR_006322 + P07949:p.Glu632_Cys634delinsAspValArg chr10 42929953 42929959 VAR_006329 + P07949:p.Cys634_Arg635delinsTrpGly chr10 42929953 42929956 VAR_009479 + P07949:p.Cys634Cys chr10 42929953 42929956 VAR_006324 + P07949:p.Cys634Phe chr10 42929953 42929956 VAR_006323 + P07949:p.Cys634Gly chr10 42929953 42929956 VAR_006326 + P07949:p.Cys634Arg chr10 42929953 42929956 VAR_006327 + P07949:p.Cys634Ser chr10 42929953 42929956 VAR_006328 + P07949:p.Cys634Trp chr10 42929953 42929956 VAR_006325 + P07949:p.Cys634Tyr chr10 42929959 42929962 VAR_006330 + P07949:p.Thr636Thr chr10 42929968 42929971 VAR_012743 + P07949:p.Ala639Gly chr10 42929971 42929974 VAR_009480 + P07949:p.Ala640Gly chr10 42929974 42929977 VAR_012744 + P07949:p.Ala641Gly chr10 42930121 42930124 VAR_006331 + P07949:p.Ser690Pro chr10 42930124 42930127 VAR_006332 + P07949:p.Gly691Ser chr10 42932145 42932148 VAR_041765 + P07949:p.Arg749Thr chr10 42932184 42932185 VAR_009481 + P07949:p.Glu762Gln chr10 42933826 42933828 VAR_009481 + P07949:p.Glu762Gln chr10 42933834 42933837 VAR_009493 + P07949:p.Ser765Pro chr10 42933840 42933843 VAR_006334 + P07949:p.Ser767Arg chr10 42933843 42933846 VAR_006335 + P07949:p.Glu768Asp chr10 42933909 42933912 VAR_009482 + P07949:p.Leu790Phe chr10 42933912 42933915 VAR_009483 + P07949:p.Tyr791Phe chr10 42935001 42935004 VAR_006336 + P07949:p.Val804Leu chr10 42935001 42935004 VAR_006337 + P07949:p.Val804Met chr10 42935028 42935031 VAR_009484 + P07949:p.Arg813Gln chr10 42935067 42935070 VAR_041766 + P07949:p.Tyr826Ser chr10 42935121 42935124 VAR_011582 + P07949:p.Arg844Leu chr10 42935543 42935546 VAR_006338 + P07949:p.Arg873Gln chr10 42935573 42935576 VAR_009485 + P07949:p.Ala883Phe chr10 42935597 42935600 VAR_009486 + P07949:p.Ser891Ala chr10 42935603 42935606 VAR_006339 + P07949:p.Phe893Leu chr10 42935615 42935618 VAR_006340 + P07949:p.Arg897Gln chr10 42935645 42935648 VAR_006341 + P07949:p.Lys907Glu chr10 42937420 42937423 VAR_006342 + P07949:p.Met918Thr chr10 42937429 42937432 VAR_006343 + P07949:p.Glu921Lys chr10 42937432 42937435 VAR_012745 + P07949:p.Ser922Phe chr10 42937432 42937435 VAR_009487 + P07949:p.Ser922Tyr chr10 42939158 42939161 VAR_006345 + P07949:p.Thr946Met chr10 42939236 42939239 VAR_006346 + P07949:p.Arg972Gly chr10 42939239 42939242 VAR_006347 + P07949:p.Pro973Leu chr10 42939260 42939262 VAR_006348 + P07949:p.Met980Thr chr10 42940336 42940337 VAR_006348 + P07949:p.Met980Thr chr10 42940340 42940343 VAR_006349 + P07949:p.Arg982Cys chr10 42942103 42942106 VAR_018157 + P07949:p.Pro1039Leu chr10 42942103 42942106 VAR_009488 + P07949:p.Pro1039Gln chr10 42942163 42942166 VAR_009489 + P07949:p.1059del chr10 42942169 42942172 VAR_009490 + P07949:p.Leu1061Pro chr10 42943567 42943570 VAR_009491 + P07949:p.Met1064Thr chr10 42943711 42943714 VAR_041767 + P07949:p.Phe1112Tyr chr2 99517385 99517388 VAR_021249 - Q9UBZ9:p.Val138Met chr2 99514022 99514025 VAR_021250 - Q9UBZ9:p.Phe257Ser chr2 99513875 99513878 VAR_029193 - Q9UBZ9:p.Asn306Asp chr2 99513674 99513677 VAR_021251 - Q9UBZ9:p.Asn373Ser chr2 99487914 99487917 VAR_029194 - Q9UBZ9:p.Met656Val chr2 99487902 99487905 VAR_029195 - Q9UBZ9:p.Leu660Trp chr2 99487782 99487785 VAR_029196 - Q9UBZ9:p.Asp700Asn chr2 99487770 99487773 VAR_029197 - Q9UBZ9:p.Arg704Gln chr2 99480994 99480997 VAR_029199 - Q9UBZ9:p.Pro902His chr2 99480994 99480997 VAR_029198 - Q9UBZ9:p.Pro902Ser chr2 99480937 99480940 VAR_029200 - Q9UBZ9:p.Ser921Ile chr2 99479460 99479463 VAR_024436 - Q9UBZ9:p.Ala1003Thr chr2 99478073 99478076 VAR_029201 - Q9UBZ9:p.Pro1060Thr chr2 99478031 99478034 VAR_029202 - Q9UBZ9:p.Asn1074Lys chr2 99477980 99477983 VAR_029203 - Q9UBZ9:p.Asn1091Thr chr2 99477947 99477950 VAR_029204 - Q9UBZ9:p.Leu1102Pro chr19 1770122 1770125 VAR_026587 - Q8N1G1:p.Ser886Gly chr9 133309487 133309490 VAR_023067 - Q9GZR2:p.Arg141Lys chr9 133307033 133307036 VAR_023068 - Q9GZR2:p.Thr283Ala chr13 40733037 40733040 VAR_024603 - O75570:p.Asn2Ser chr13 40706041 40706044 VAR_034447 - O75570:p.Leu324Val chr17 1729701 1729704 VAR_019236 + P27694:p.Thr351Ala chr1 27924790 27924793 VAR_023300 - P15927:p.Tyr14Ser chr1 27924787 27924790 VAR_023301 - P15927:p.Gly15Arg chr1 27904966 27904969 VAR_023302 - P15927:p.Asn203Ser chrX 95945550 95945553 VAR_019170 + Q13156:p.Ala33Thr chr4 39132912 39132915 VAR_014860 - P35251:p.Ile598Val chr4 39132867 39132870 VAR_016986 - P35251:p.Arg613Leu chr4 39129036 39129039 VAR_020657 - P35251:p.Glu692Asp chr4 39119891 39119894 VAR_020658 - P35251:p.Gln955Lys chr4 39112955 39112958 VAR_020659 - P35251:p.Ser1146Leu chr7 73097966 73097969 VAR_023126 - P35250:p.Ala232Val chr13 33290360 33290363 VAR_018750 + P40938:p.Leu16Val chr3 187990822 187990825 VAR_014307 - P35249:p.Val292Ala chr3 187990489 187990492 VAR_036121 - P35249:p.Thr354Ser chr12 116917388 116917391 VAR_018749 + P40937:p.Ala13Thr chr8 37847173 37847176 VAR_022447 - Q6WKZ4:p.Met1185Thr chr22 28162212 28162215 VAR_039573 + O75677:p.139del chr7 25041172 25041175 VAR_014074 - Q9HCQ7:p.Asp42Gly chr7 25039660 25039663 VAR_030644 - Q9HCQ7:p.Val121Met chr3 53130757 53130760 VAR_037215 - Q96AA3:p.Ala185Thr chr16 73252578 73252581 VAR_030700 - Q6PCD5:p.Thr90Asn chr16 73229272 73229275 VAR_030701 - Q6PCD5:p.Arg392Lys chr16 73222241 73222244 VAR_030702 - Q6PCD5:p.Ile564Val chr16 73215341 73215344 VAR_030703 - Q6PCD5:p.Ile770Thr chr1 148129991 148129994 VAR_015550 - P48382:p.Arg149Gln chr1 148129395 148129398 VAR_034448 - P48382:p.Arg197Gln chr1 148128358 148128361 VAR_034449 - P48382:p.Pro409Arg chr1 148128088 148128091 VAR_034450 - P48382:p.Pro499Ser chr6 117305146 117305149 VAR_037709 + Q8HWS3:p.Glu6Lys chr6 117355058 117355061 VAR_037710 + Q8HWS3:p.Thr688Ala chr6 117355223 117355226 VAR_037711 + Q8HWS3:p.Ser743Asn chr19 19170483 19170486 VAR_009941 + O14593:p.Leu195Pro chr19 19173495 19173498 VAR_014472 + O14593:p.Gln251Glu chr4 100836485 100836488 VAR_037222 - Q8TBZ6:p.Pro82Gln chr4 100835700 100835703 VAR_037223 - Q8TBZ6:p.Arg133Gln chr9 37760715 37760718 VAR_037224 + Q6PF06:p.Val234Gly chr9 37766281 37766284 VAR_037225 + Q6PF06:p.Val242Ala chr22 22358840 22358843 VAR_016244 + Q8IZJ4:p.Gln24Arg chr22 22360523 22360526 VAR_016245 + Q8IZJ4:p.His241Tyr chr22 22361697 22361700 VAR_016246 + Q8IZJ4:p.Met342Arg chr22 22363399 22363402 VAR_016247 + Q8IZJ4:p.Val378Ala chr1 180581500 180581503 VAR_035823 + Q9NZL6:p.Tyr174Ser chr1 180623102 180623105 VAR_035824 + Q9NZL6:p.Val699Met chr19 11387763 11387766 VAR_035298 - Q3MIN7:p.Pro162His chr19 11369174 11369177 VAR_035300 - Q3MIN7:p.Arg615Cys chr1 142904462 142904465 VAR_019617 + Q6ZVN8:p.Cys80Arg chr1 142904477 142904480 VAR_019618 + Q6ZVN8:p.Ser85Pro chr1 142904519 142904522 VAR_019619 + Q6ZVN8:p.Gly99Arg chr1 142904525 142904528 VAR_019620 + Q6ZVN8:p.Leu101Pro chr1 142904726 142904729 VAR_019621 + Q6ZVN8:p.Ala168Asp chr1 142904732 142904735 VAR_019622 + Q6ZVN8:p.Phe170Ser chr1 142904738 142904741 VAR_019623 + Q6ZVN8:p.Asp172Glu chr1 142904795 142904798 VAR_019624 + Q6ZVN8:p.Trp191Cys chr1 142904837 142904840 VAR_019625 + Q6ZVN8:p.Ser205Arg chr1 142905362 142905365 VAR_019626 + Q6ZVN8:p.Ile222Asn chr1 142905446 142905449 VAR_019627 + Q6ZVN8:p.Gly250Val chr1 142905560 142905563 VAR_019628 + Q6ZVN8:p.Arg288Trp chr1 142905656 142905659 VAR_019629 + Q6ZVN8:p.Gly320Val chr1 142905659 142905662 VAR_019927 + Q6ZVN8:p.Cys321Trp chr10 85997442 85997445 VAR_017034 + P47804:p.Ser66Arg chr10 86002627 86002630 VAR_017055 + P47804:p.Val132Leu chr10 86002687 86002690 VAR_017056 + P47804:p.His152Asn chr10 86007697 86007700 VAR_017058 + P47804:p.Ala234Thr chr10 86007718 86007721 VAR_017057 + P47804:p.Ser241Phe chr10 121265103 121265106 VAR_011896 - O43665:p.Ala94Val chr16 259510 259513 VAR_024606 - O94810:p.Met427Thr chr4 3355538 3355541 VAR_034451 + O14924:p.Ile225Val chr4 3355694 3355697 VAR_034452 + O14924:p.Met277Leu chr4 3466823 3466826 VAR_020208 + O14924:p.Asn1124Ser chr1 189360277 189360280 VAR_034453 + O14921:p.Leu150Phe chr17 60623739 60623742 VAR_017912 + O75916:p.Trp299Arg chr6 49694954 49694957 VAR_006921 - Q02094:p.Ser79Asn chr6 49688203 49688206 VAR_015855 - Q02094:p.Val270Ile chr6 49688176 49688179 VAR_015856 - Q02094:p.Gly279Glu chr6 49688173 49688176 VAR_015857 - Q02094:p.Gly280Arg chr2 227555241 227555244 VAR_034454 + Q8TEB9:p.Ala110Thr chr22 27984651 27984654 VAR_021952 - Q9Y3P4:p.Thr86Met chr1 39021361 39021364 VAR_020328 - Q9NX52:p.Leu273Met chr17 27649317 27649320 VAR_024593 + P58872:p.Val255Met chr5 95093373 95093376 VAR_030490 + O94955:p.Arg20Gln chr5 95093376 95093379 VAR_018481 + O94955:p.Pro21Arg chr5 95116956 95116959 VAR_018482 + O94955:p.Asn262Asp chr15 87824559 87824562 VAR_031496 - Q9UBD6:p.Arg202Cys chr1 25344399 25344402 VAR_034455 + Q02161:p.Trp16Cys chr1 25356537 25356540 VAR_035615 + Q02161:p.Ser103Cys chr1 25356558 25356561 VAR_006919 + Q02161:p.Leu110Pro chr1 25372842 25372845 VAR_034456 + Q02161:p.Glu193Lys chr1 25372866 25372869 VAR_034457 + Q02161:p.Thr201Arg chr1 25373343 25373346 VAR_006920 + Q02161:p.Met218Ile chr1 25373358 25373361 VAR_013304 + Q02161:p.Phe223Val chr1 25373388 25373391 VAR_013305 + Q02161:p.Glu233Gln chr1 25373403 25373406 VAR_013306 + Q02161:p.Val238Met chr1 25373424 25373427 VAR_013307 + Q02161:p.Val245Leu chr7 150605349 150605352 VAR_036310 - Q15382:p.Glu139Lys chrX 152707787 152707790 VAR_028413 - P98171:p.Ala104Val chrX 10917191 10917194 VAR_024453 - O43182:p.Asp791Glu chr8 13002080 13002083 VAR_014229 - Q96QB1:p.Asn275Ser chr8 13001843 13001846 VAR_014230 - Q96QB1:p.Val354Met chr8 13001339 13001342 VAR_014231 - Q96QB1:p.Thr522Ala chr8 13000451 13000454 VAR_014232 - Q96QB1:p.His561Gln chr8 13000370 13000373 VAR_014233 - Q96QB1:p.Val588Ala chr8 12994634 12994637 VAR_014234 - Q96QB1:p.Glu762Val chr8 12994604 12994607 VAR_014235 - Q96QB1:p.Ser772Cys chr10 32168615 32168618 VAR_024454 - Q8IWW6:p.Phe442Ser chr10 99006076 99006079 VAR_031152 - Q14CB8:p.Gln305Arg chr10 49328947 49328950 VAR_031153 - Q7Z5H3:p.Thr410Lys chr10 49328341 49328344 VAR_031154 - Q7Z5H3:p.Arg612Cys chr5 142401611 142401614 VAR_013623 + Q9UNA1:p.Asn417Ser chr15 30716078 30716081 VAR_035546 + Q6P4F7:p.Glu605Lys chr22 44142445 44142448 VAR_028812 + Q9H4K1:p.Arg180Cys chr22 44142490 44142493 VAR_028813 + Q9H4K1:p.Phe195Leu chr22 44147415 44147418 VAR_028814 + Q9H4K1:p.Arg262Gln chr11 8118269 8118272 VAR_034943 - Q7Z5B4:p.Pro57His chr17 12802802 12802805 VAR_031159 + Q17R89:p.Val463Met chr2 152137077 152137080 VAR_022788 + Q5UIP0:p.Gly836Ser chr2 152145625 152145628 VAR_022789 + Q5UIP0:p.Val1362Met chr2 152146597 152146600 VAR_022790 + Q5UIP0:p.Arg1686Gly chr2 152146891 152146894 VAR_035983 + Q5UIP0:p.Glu1784Lys chr2 152147125 152147128 VAR_022791 + Q5UIP0:p.Val1862Ile chr2 152147404 152147407 VAR_035984 + Q5UIP0:p.Asp1955His chr2 152147602 152147605 VAR_022792 + Q5UIP0:p.Asn2021Tyr chr2 152148034 152148037 VAR_022793 + Q5UIP0:p.Met2165Arg chr2 152156925 152156928 VAR_022794 + Q5UIP0:p.Leu2418Val chr17 1497979 1497982 VAR_034417 - Q96NA2:p.Arg281Gln chr17 53751606 53751609 VAR_017446 - O95153:p.Gln514Arg chr17 53750753 53750756 VAR_017447 - O95153:p.Ala586Thr chr17 53744729 53744732 VAR_031662 - O95153:p.Gln817Arg chr17 53744627 53744630 VAR_031663 - O95153:p.Trp851Arg chr17 53743300 53743303 VAR_017448 - O95153:p.His1118Leu chr17 53743234 53743237 VAR_017449 - O95153:p.Ala1140Pro chr17 53742458 53742461 VAR_017450 - O95153:p.Arg1253Cys chr17 53738741 53738744 VAR_031664 - O95153:p.His1728Arg chr17 53737474 53737477 VAR_017451 - O95153:p.Gly1830Glu chr6 73017429 73017432 VAR_016804 + Q86UR5:p.Arg820His chr20 19899533 19899536 VAR_024694 + Q8WYP3:p.Ser197Thr chr11 489118 489121 VAR_014726 - P13489:p.Pro170Leu chr7 104799789 104799792 VAR_034418 + Q6NUQ1:p.Phe668Ser chr7 104801604 104801607 VAR_034419 + Q6NUQ1:p.Pro759Leu chr5 96539225 96539228 VAR_042347 - Q9BVS4:p.Ser96Cys chr5 96538641 96538644 VAR_042348 - Q9BVS4:p.His144Arg chr5 96538641 96538644 VAR_031597 - Q9BVS4:p.His144Tyr chr5 96538608 96538611 VAR_042349 - Q9BVS4:p.Arg155His chr5 96534696 96534699 VAR_042350 - Q9BVS4:p.Val175Ile chr5 96532796 96532799 VAR_042351 - Q9BVS4:p.Ile216Thr chr5 96532712 96532715 VAR_042352 - Q9BVS4:p.Met244Val chr5 96529276 96529279 VAR_031598 - Q9BVS4:p.Gly349Arg chr5 96529132 96529135 VAR_031599 - Q9BVS4:p.Asn397Ser chr5 96529096 96529099 VAR_042353 - Q9BVS4:p.Glu409Asp chr6 3023036 3023039 VAR_041039 + Q13546:p.Ala64Val chr6 3023087 3023090 VAR_041040 + Q13546:p.Val81Ile chr6 3028515 3028518 VAR_041041 + Q13546:p.Ala220Val chr6 3030502 3030505 VAR_021109 + Q13546:p.Glu234Lys chr6 3050917 3050920 VAR_041042 + Q13546:p.Ala404Ser chr6 3051034 3051037 VAR_041043 + Q13546:p.Ala443Val chr6 3056163 3056166 VAR_041044 + Q13546:p.Ala569Val chr8 103306398 103306401 VAR_025699 - Q7LG56:p.Val115Leu chrX 153150000 153150003 VAR_006922 + P27635:p.Asn202Ser chrX 153150012 153150015 VAR_027795 + P27635:p.Leu206Met chrX 153150033 153150036 VAR_027796 + P27635:p.His213Gln chr13 26725955 26725958 VAR_034459 + P46778:p.Phe15Ser chr19 60589863 60589866 VAR_034460 + P46779:p.Arg66Leu chr5 40868413 40868416 VAR_014606 - P61927:p.Gly81Glu chr16 1936704 1936707 VAR_034461 - Q92901:p.Pro291Leu chr1 152725557 152725560 VAR_021516 + Q8TDU9:p.Leu329Ser chr12 111308799 111308802 VAR_036437 - Q02878:p.Lys100Gln chr12 111306409 111306412 VAR_025313 - Q02878:p.His227Arg chr9 133245396 133245399 VAR_014721 + P62424:p.Ala24Val chr8 145987670 145987673 VAR_019658 - P62917:p.Ile98Val chr15 87559366 87559369 VAR_005140 - P12271:p.Arg151Gln chr15 87555983 87555986 VAR_037317 - P12271:p.Met226Lys chr15 87555026 87555029 VAR_015172 - P12271:p.Arg234Trp chr4 79150183 79150186 VAR_027865 + Q9BYD6:p.Thr25Lys chr4 79165594 79165597 VAR_027866 + Q9BYD6:p.Phe155Ser chr6 43130007 43130010 VAR_029470 - Q5T653:p.Ser300Phe chr3 132671270 132671273 VAR_020108 - P09001:p.Met261Thr chr1 148548647 148548650 VAR_028136 - Q9BYD2:p.Glu67Gly chr6 160182045 160182048 VAR_024609 + Q9H0U6:p.Arg6Gln chr5 154326488 154326491 VAR_029471 + Q9NWU5:p.Gly154Ser chr2 99270587 99270590 VAR_034462 + Q8TCC3:p.Ala130Thr chr2 86344897 86344900 VAR_030010 + Q9NZE8:p.Pro19Ser chr2 86345967 86345970 VAR_034463 + Q9NZE8:p.Ala80Pro chr1 54390325 54390328 VAR_025269 + Q9BZE1:p.Leu322Val chr1 54393939 54393942 VAR_025270 + Q9BZE1:p.Cys366Ser chr2 224649987 224649990 VAR_034464 + Q9H9J2:p.Thr138Ile chr11 73176679 73176682 VAR_029473 + Q96GC5:p.Glu6Gly chr11 64646418 64646421 VAR_021991 + Q13405:p.Thr9Ala chr9 101232398 101232401 VAR_029474 - Q8N5N7:p.Leu127Phe chr14 22368973 22368976 VAR_030080 + Q86TS9:p.Gly5Val chr2 74611430 74611433 VAR_029475 - Q96EL3:p.Ala4Ser chr1 224602259 224602262 VAR_030082 - Q7Z7F7:p.Arg24Cys chr9 83845752 83845755 VAR_025556 + Q9H9A7:p.Tyr100His chr6 151858664 151858667 VAR_025754 - Q9NWS8:p.Thr132Met chr17 632389 632392 VAR_037217 + Q9HC36:p.Ala8Ser chr17 632500 632503 VAR_037218 + Q9HC36:p.Gly45Glu chr17 633310 633313 VAR_037219 + Q9HC36:p.Ile185Val chr17 641771 641774 VAR_037220 + Q9HC36:p.Glu326Gln chr3 49703929 49703932 VAR_027561 + Q5XPI4:p.Pro51Arg chr7 121936092 121936095 VAR_028855 - Q8N7C7:p.Phe221Leu chr2 101383547 101383550 VAR_035958 - Q8NC42:p.Glu7Lys chr2 101383541 101383544 VAR_029455 - Q8NC42:p.Ser9Gly chr2 101356965 101356968 VAR_029456 - Q8NC42:p.Leu344Phe chr2 101356929 101356932 VAR_029457 - Q8NC42:p.Asp356Glu chr17 71681433 71681436 VAR_029458 - Q96PX1:p.Pro80His chr17 71674140 71674143 VAR_029459 - Q96PX1:p.Gly208Arg chr17 4786685 4786688 VAR_026996 + Q9H6Y7:p.Asn121Lys chr3 197687554 197687557 VAR_034466 - Q8IYW5:p.Lys387Arg chr3 197687512 197687515 VAR_026997 - Q8IYW5:p.Pro401Gln chr4 155002139 155002142 VAR_026998 - Q8N4F7:p.Met159Val chr4 154989191 154989194 VAR_026999 - Q8N4F7:p.Leu307Phe chr4 154989167 154989170 VAR_027000 - Q8N4F7:p.Ile315Met chr2 85735908 85735911 VAR_033323 + Q9P0P0:p.Tyr118His chr6 14085455 14085458 VAR_035959 + Q8N6D2:p.Val43Ala chr6 14085500 14085503 VAR_035960 + Q8N6D2:p.Pro58Leu chr1 19886831 19886834 VAR_029460 - Q9NXI6:p.Ala23Thr chr8 101339971 101339974 VAR_028045 - Q9NV58:p.Gln835His chr6 125420810 125420813 VAR_024160 + Q8TC41:p.Val89Ile chr1 179287421 179287424 VAR_013509 - Q05823:p.Gly59Ser chr1 179287307 179287310 VAR_042358 - Q05823:p.Ile97Leu chr1 179286731 179286734 VAR_042359 - Q05823:p.Ala289Thr chr1 179286380 179286383 VAR_013510 - Q05823:p.Ser406Phe chr1 179286212 179286215 VAR_012056 - Q05823:p.Arg462Gln chr1 179282993 179282996 VAR_012057 - Q05823:p.Asp541Glu chr1 179282145 179282148 VAR_042360 - Q05823:p.Arg592His chr14 20494235 20494238 VAR_013150 + P10153:p.His156Asn chr14 20237415 20237418 VAR_024618 + P34096:p.Thr16Ser chr14 20319962 20319965 VAR_012048 + Q93091:p.Arg89Gln chr14 20094456 20094459 VAR_034473 - P60153:p.Ser204Pro chr5 36301314 36301317 VAR_037558 - Q86VV4:p.Ala111Asp chr5 36292889 36292892 VAR_037559 - Q86VV4:p.Ala271Val chr12 47544908 47544911 VAR_020188 - Q92730:p.Pro44Arg chr12 119461274 119461277 VAR_028967 + Q8N5U6:p.Leu332Phe chr12 119463911 119463914 VAR_028968 + Q8N5U6:p.Glu433Asp chr7 155968597 155968600 VAR_026982 + Q9H0A6:p.Arg288Gln chr7 155968606 155968609 VAR_026983 + Q9H0A6:p.His291Gln chr7 155968654 155968657 VAR_026984 + Q9H0A6:p.Arg307Cys chr17 53847796 53847799 VAR_030713 - Q68DV7:p.Ile47Val chr17 53803294 53803297 VAR_030714 - Q68DV7:p.Arg117His chr17 53794927 53794930 VAR_030715 - Q68DV7:p.Arg221Gln chr17 53793298 53793301 VAR_030716 - Q68DV7:p.Pro231Leu chr17 53790881 53790884 VAR_030717 - Q68DV7:p.Leu418Met chr17 53790077 53790080 VAR_030718 - Q68DV7:p.Pro686Arg chr13 25691642 25691645 VAR_034465 - Q9Y252:p.Asn48Ser chr2 3099207 3099210 VAR_023469 - O60930:p.Leu4Phe chr13 50401652 50401655 VAR_027280 + Q5TBB1:p.Leu60Arg chr13 50402830 50402833 VAR_027281 + Q5TBB1:p.His86Arg chr13 50415504 50415507 VAR_027282 + Q5TBB1:p.Lys162Thr chr13 50415507 50415510 VAR_027283 + Q5TBB1:p.Thr163Ile chr13 50417581 50417584 VAR_027284 + Q5TBB1:p.Ala177Thr chr13 50417605 50417608 VAR_027285 + Q5TBB1:p.Val185Gly chr13 50420161 50420164 VAR_027286 + Q5TBB1:p.Tyr219His chr11 65244429 65244432 VAR_027287 - Q8TDP1:p.Arg69Trp chr11 65244130 65244133 VAR_027288 - Q8TDP1:p.Lys143Ile chr2 241234938 241234941 VAR_036046 + Q9HAU8:p.Val247Met chr14 20571870 20571873 VAR_036874 - Q5GAN3:p.Ser139Ala chr18 46767423 46767426 VAR_017424 + Q9H777:p.Met355Val chr17 12861833 12861836 VAR_038210 - Q9BQ52:p.Ser52Phe chr11 4368059 4368062 VAR_013749 - P19474:p.Pro52Ala chr11 4367927 4367930 VAR_013750 - P19474:p.Gly96Arg chr11 4366147 4366150 VAR_013751 - P19474:p.Glu231Lys chr12 52961929 52961932 VAR_014711 + P09651:p.Asn73Ser chr3 78767820 78767823 VAR_019071 - Q9Y6N7:p.Ser1055Asn chr3 78738717 78738720 VAR_019072 - Q9Y6N7:p.Glu1533Asp chr3 77728569 77728572 VAR_032960 + Q9HCK4:p.Ile945Thr chr3 77754218 77754221 VAR_032961 + Q9HCK4:p.Ala1236Thr chr11 124240695 124240698 VAR_019119 + Q96MS0:p.Leu5Pro chr11 124243942 124243945 VAR_019120 + Q96MS0:p.Ile66Leu chr11 124245755 124245758 VAR_019073 + Q96MS0:p.Glu319Lys chr11 124246166 124246169 VAR_019121 + Q96MS0:p.Gly361Glu chr11 124247594 124247597 VAR_034474 + Q96MS0:p.Val423Met chr11 124250249 124250252 VAR_019074 + Q96MS0:p.Arg703Pro chr11 124250255 124250258 VAR_019075 + Q96MS0:p.Ser705Pro chr11 124255669 124255672 VAR_034475 + Q96MS0:p.Gln1369Arg chr16 4791527 4791530 VAR_038273 - Q9GZN7:p.Glu59Lys chr11 62137374 62137377 VAR_008269 + Q03395:p.Arg16His chr11 62137506 62137509 VAR_006896 + Q03395:p.Pro60Thr chr11 62137551 62137554 VAR_008270 + Q03395:p.Gly75Asp chr11 62137650 62137653 VAR_006897 + Q03395:p.Thr108Met chr11 62137680 62137683 VAR_008271 + Q03395:p.Gly118Ala chr11 62138399 62138402 VAR_006898 + Q03395:p.Arg229His chr11 62138438 62138441 VAR_008272 + Q03395:p.Arg242Gln chr11 62138507 62138510 VAR_006899 + Q03395:p.Ala265Thr chr11 62138525 62138528 VAR_006900 + Q03395:p.Met271Thr chr3 49915821 49915824 VAR_041768 - Q04912:p.Arg75Ser chr3 49915761 49915764 VAR_041769 - Q04912:p.Pro95Thr chr3 49915491 49915494 VAR_041770 - Q04912:p.Arg185Cys chr3 49914978 49914981 VAR_041771 - Q04912:p.Gly356Asp chr3 49911628 49911631 VAR_029238 - Q04912:p.Ser434Leu chr3 49911610 49911613 VAR_029239 - Q04912:p.Asn440Ser chr3 49911535 49911538 VAR_041772 - Q04912:p.Gly465Asp chr3 49911339 49911342 VAR_041773 - Q04912:p.Arg504Cys chr3 49910528 49910531 VAR_041775 - Q04912:p.Gln613Pro chr3 49908493 49908496 VAR_041776 - Q04912:p.Val900Met chr3 49902395 49902398 VAR_041777 - Q04912:p.Arg1304Gly chr3 49899941 49899944 VAR_024577 - Q04912:p.Arg1335Gly chr3 49899866 49899869 VAR_041778 - Q04912:p.Tyr1360Cys chr1 64227649 64227652 VAR_041779 + Q01973:p.Gly144Glu chr1 64227667 64227670 VAR_041780 + Q01973:p.Phe150Leu chr1 64318102 64318105 VAR_041781 + Q01973:p.Ile301Val chr1 64355296 64355299 VAR_041782 + Q01973:p.Thr518Met chr1 64355428 64355431 VAR_035713 + Q01973:p.Glu562Asp chr1 64355443 64355446 VAR_041783 + Q01973:p.Arg567Ile chr1 64355614 64355617 VAR_041784 + Q01973:p.Gly624Arg chr1 64355680 64355683 VAR_041785 + Q01973:p.Tyr646Cys chr1 64356070 64356073 VAR_041786 + Q01973:p.Ser776Asn chr9 91579303 91579306 VAR_010911 - Q01974:p.Cys182Tyr chr9 91579297 91579300 VAR_010768 - Q01974:p.Arg184Cys chr9 91579282 91579285 VAR_010769 - Q01974:p.Arg189Trp chr9 91575163 91575166 VAR_041787 - Q01974:p.Arg244Gln chr9 91575160 91575163 VAR_010912 - Q01974:p.Thr245Ala chr9 91572882 91572885 VAR_041788 - Q01974:p.His349Asp chr9 91572831 91572834 VAR_010770 - Q01974:p.Arg366Trp chr9 91566860 91566863 VAR_041789 - Q01974:p.Gly490Ala chr9 91566740 91566743 VAR_041790 - Q01974:p.Arg530Gln chr9 91566704 91566707 VAR_041791 - Q01974:p.Val542Met chr9 91566686 91566689 VAR_041792 - Q01974:p.Pro548Ser chr9 91566659 91566662 VAR_041793 - Q01974:p.Ser557Leu chr9 91566470 91566473 VAR_010771 - Q01974:p.Asn620Lys chr9 91566398 91566401 VAR_041794 - Q01974:p.Asp644Asn chr9 91566314 91566317 VAR_041795 - Q01974:p.Asp672Asn chr9 91566245 91566248 VAR_041796 - Q01974:p.Gly695Arg chr9 91566116 91566119 VAR_041797 - Q01974:p.Arg738Cys chr9 91566044 91566047 VAR_041798 - Q01974:p.Ser762Leu chr9 91565873 91565876 VAR_010913 - Q01974:p.Val819Ile chr9 91565525 91565528 VAR_041799 - Q01974:p.Asp935Glu chr15 58706811 58706814 VAR_036062 - P35398:p.Pro18Ser chr8 10517989 10517992 VAR_017700 - Q8IWN7:p.Pro44Ala chr8 10517953 10517956 VAR_017701 - Q8IWN7:p.Arg56Cys chr8 10517785 10517788 VAR_017702 - Q8IWN7:p.Thr112Ser chr8 10517713 10517716 VAR_017703 - Q8IWN7:p.Arg136His chr8 10507556 10507559 VAR_017704 - Q8IWN7:p.Ala487Val chr8 10507145 10507148 VAR_017705 - Q8IWN7:p.Ala624Thr chr8 10506632 10506635 VAR_017707 - Q8IWN7:p.Glu795Lys chr8 10506437 10506440 VAR_017708 - Q8IWN7:p.Arg860Trp chr8 10505162 10505165 VAR_017710 - Q8IWN7:p.Ala1285Ser chr8 10505045 10505048 VAR_017712 - Q8IWN7:p.Glu1324Gly chr8 10504799 10505039 VAR_017714 - Q8IWN7:p.1327_1406del chr8 10505033 10505039 VAR_017713 - Q8IWN7:p.Thr1327_Glu1328delinsValIle chr8 10505012 10505015 VAR_017715 - Q8IWN7:p.Gly1335Arg chr8 10504799 10504991 VAR_017716 - Q8IWN7:p.1343_1406del chr8 10504799 10504943 VAR_017717 - Q8IWN7:p.1359_1406del chr8 10504799 10504895 VAR_017718 - Q8IWN7:p.1375_1406del chr8 10504799 10504847 VAR_017719 - Q8IWN7:p.1391_1406del chr8 10504757 10504760 VAR_017720 - Q8IWN7:p.Gly1420Glu chr8 10503173 10503194 VAR_017727 - Q8IWN7:p.1942_1948del chr8 10502915 10502918 VAR_017730 - Q8IWN7:p.Ala2034Thr chr8 10502357 10502360 VAR_017733 - Q8IWN7:p.Glu2220Lys chr8 10502180 10502183 VAR_017735 - Q8IWN7:p.Pro2279Leu chr8 10501922 10501925 VAR_017737 - Q8IWN7:p.Gly2365Arg chr8 55701608 55701611 VAR_007810 + P56715:p.Arg872His chr8 55701947 55701950 VAR_007811 + P56715:p.Asn985Tyr chr8 55704002 55704005 VAR_007812 + P56715:p.Ala1670Thr chr8 55704065 55704068 VAR_007813 + P56715:p.Ser1691Pro chr8 55705091 55705094 VAR_007814 + P56715:p.Cys2033Tyr chr7 32909400 32909403 VAR_017252 - Q8TA86:p.His137Leu chr7 32908241 32908244 VAR_017253 - Q8TA86:p.Asp170Gly chr7 32908121 32908124 VAR_017254 - Q8TA86:p.Lys210Arg chr2 113025702 113025705 VAR_034476 + Q9H9Y6:p.Ser295Leu chr9 37485191 37485194 VAR_022372 + Q9GZS1:p.Asp254His chr9 37491806 37491809 VAR_022373 + Q9GZS1:p.Val418Met chr9 37493085 37493088 VAR_022374 + Q9GZS1:p.Arg445Lys chr19 1045002 1045005 VAR_028259 - P19388:p.Ser44Phe chr22 36679939 36679942 VAR_036571 + P61218:p.Tyr60Asn chr15 39606948 39606951 VAR_036469 - Q9BWH6:p.Arg525Gln chr16 43514 43517 VAR_027918 - Q9Y2Y1:p.Ser24Ala chr1 143090845 143090848 VAR_019083 - Q9BUI4:p.His243Arg chr1 68626355 68626358 VAR_017126 - Q16518:p.Leu22Pro chr1 68624538 68624541 VAR_017127 - Q16518:p.Gly40Ser chr1 68624526 68624529 VAR_017128 - Q16518:p.Arg44Gln chr1 68624454 68624457 VAR_017129 - Q16518:p.His68Tyr chr1 68622559 68622562 VAR_017131 - Q16518:p.Arg91Gln chr1 68622559 68622562 VAR_017130 - Q16518:p.Arg91Trp chr1 68622333 68622336 VAR_017132 - Q16518:p.Ala132Thr chr1 68622297 68622300 VAR_017133 - Q16518:p.Tyr144Asp chr1 68618653 68618656 VAR_017134 - Q16518:p.His182Tyr chr1 68616782 68616785 VAR_017135 - Q16518:p.Val287Phe chr1 68616680 68616683 VAR_017136 - Q16518:p.Asn321Lys chr1 68615995 68615998 VAR_017137 - Q16518:p.Leu341Ser chr1 68615929 68615932 VAR_017138 - Q16518:p.Pro363Thr chr1 68615914 68615917 VAR_017139 - Q16518:p.Tyr368His chr1 68609238 68609241 VAR_017140 - Q16518:p.Ala393Gly chr1 68609072 68609075 VAR_017141 - Q16518:p.Glu417Gln chr1 68609030 68609033 VAR_018151 - Q16518:p.Tyr431Cys chr1 68609021 68609024 VAR_034477 - Q16518:p.Ala434Val chr1 68608862 68608865 VAR_017142 - Q16518:p.Val452Gly chr1 68607536 68607539 VAR_037619 - Q16518:p.Arg515Trp chr1 84657009 84657012 VAR_022871 + Q9H9Y2:p.Ser9Gly chr1 21683322 21683325 VAR_035547 - P47736:p.Cys257Arg chr1 21670250 21670253 VAR_035548 - P47736:p.Tyr609Cys chr17 2830337 2830340 VAR_037553 + Q684P5:p.Leu202Met chr14 20840569 20840572 VAR_017830 + Q96KN7:p.Lys192Glu chr14 20859879 20859882 VAR_017831 + Q96KN7:p.Ala547Ser chr14 20862654 20862657 VAR_017832 + Q96KN7:p.Ser601Leu chr14 20863250 20863253 VAR_017833 + Q96KN7:p.Gly746Glu chr14 20863940 20863943 VAR_017834 + Q96KN7:p.Arg827Leu chr14 20881034 20881037 VAR_017836 + Q96KN7:p.Asp1114Gly chr19 573334 573337 VAR_019427 - O00411:p.Glu555Ala chr6 30421316 30421319 VAR_019116 + Q9H633:p.Gln77His chr10 15185580 15185583 VAR_023960 + P78345:p.Glu88Asp chr10 15185658 15185661 VAR_023961 + P78345:p.Ala114Val chr10 15185859 15185862 VAR_023962 + P78345:p.Ala181Gly chr10 15185952 15185955 VAR_029298 + P78345:p.Ile212Thr chr11 14272964 14272967 VAR_006848 - P62070:p.Gln72Leu chr1 214866803 214866806 VAR_030112 + Q9Y3B9:p.Lys149Asn chr1 214869351 214869354 VAR_030113 + Q9Y3B9:p.Lys230Arg chr13 72248078 72248081 VAR_023099 - Q9Y2L1:p.Asn269Ser chr13 72247358 72247361 VAR_023100 - Q9Y2L1:p.Thr326Arg chr8 67504490 67504493 VAR_020484 + Q15050:p.Arg191Leu chr15 80611490 80611493 VAR_034478 - P08708:p.Glu36Lys chr19 47056726 47056729 VAR_018438 + P39019:p.Val15Phe chr19 47056735 47056738 VAR_018439 + P39019:p.Leu18Pro chr19 47057087 47057090 VAR_018440 + P39019:p.Pro47Leu chr19 47057102 47057105 VAR_018441 + P39019:p.Trp52Arg chr19 47057111 47057114 VAR_018442 + P39019:p.Thr55Met chr19 47057114 47057117 VAR_018437 + P39019:p.Arg56Gln chr19 47064948 47064951 VAR_018443 + P39019:p.Ala61Glu chr19 47064951 47064954 VAR_018444 + P39019:p.Arg62Gln chr19 47064951 47064954 VAR_006924 + P39019:p.Arg62Trp chr19 47065068 47065071 VAR_018445 + P39019:p.Arg101His chr19 47065609 47065612 VAR_018446 + P39019:p.Gly120Arg chr19 47065642 47065645 VAR_018447 + P39019:p.Leu131Pro chr19 59403078 59403081 VAR_036543 + P46781:p.Val137Phe chr2 6968652 6968655 VAR_036980 + Q8WXG1:p.Leu42Arg chr6 117044923 117044926 VAR_037715 + Q5TD94:p.Thr149Ser chr6 117057425 117057428 VAR_037716 + Q5TD94:p.Arg556His chr6 117057524 117057527 VAR_037717 + Q5TD94:p.Leu589Pro chr6 117058370 117058373 VAR_037718 + Q5TD94:p.Asn627His chr6 117060243 117060246 VAR_037719 + Q5TD94:p.Ala700Val chr17 31086469 31086472 VAR_036309 + Q96S79:p.Val52Met chr6 159385306 159385309 VAR_037720 - Q86UC2:p.Asn201Ser chr6 159377853 159377856 VAR_037721 - Q86UC2:p.Arg213Gln chr6 159372305 159372308 VAR_037722 - Q86UC2:p.Arg398Gln chr6 159369755 159369758 VAR_037723 - Q86UC2:p.Met439Thr chr6 159369209 159369212 VAR_037724 - Q86UC2:p.Glu484Lys chr6 159369107 159369110 VAR_037725 - Q86UC2:p.Gly518Asp chr8 109039541 109039544 VAR_026247 - Q6UXX9:p.Leu186Pro chr20 896665 896668 VAR_030399 - Q2I0M5:p.Gln65Arg chr20 895940 895943 VAR_030400 - Q2I0M5:p.Cys95Phe chr20 895904 895907 VAR_030401 - Q2I0M5:p.Cys107Arg chr20 895871 895874 VAR_030402 - Q2I0M5:p.Cys118Tyr chr12 121528399 121528402 VAR_038133 - Q7L4I2:p.His88Arg chr3 39427344 39427347 VAR_025522 + P08865:p.Arg117Trp chr9 135621366 135621369 VAR_034479 + Q9Y399:p.Asp112Gly chr9 135621504 135621507 VAR_034480 + Q9Y399:p.Met158Val chr9 135621912 135621915 VAR_020128 + Q9Y399:p.His294Arg chr10 74681764 74681767 VAR_031525 - Q9Y3D3:p.Tyr12His chr1 147093621 147093624 VAR_024610 + P82921:p.Arg51Gln chr7 43679750 43679753 VAR_030077 - Q96EL2:p.Trp97Arg chr5 44844917 44844920 VAR_028401 + Q9NP92:p.Cys33Phe chr5 44844917 44844920 VAR_028023 + Q9NP92:p.Cys33Ser chr22 21807035 21807038 VAR_015443 - Q9UHP6:p.Thr42Met chr11 63205699 63205702 VAR_031164 + O95197:p.Ala6Glu chr2 55165598 55165601 VAR_035904 - Q9NQC3:p.Leu429Val chr3 188400137 188400140 VAR_036122 + P59025:p.Arg124Ser chr3 188899419 188899422 VAR_021488 - Q5QGT7:p.Gln82Arg chr20 16660401 16660404 VAR_035487 + P08579:p.Lys19Gln chr5 178929002 178929005 VAR_035985 + Q96T51:p.Cys267Phe chr21 35174733 35174736 VAR_012128 - Q01196:p.Arg139Gln chr21 35153650 35153653 VAR_012129 - Q01196:p.Arg174Gln chr21 35086370 35086373 VAR_013177 - Q01196:p.Ser431Arg chr21 35086364 35086367 VAR_013178 - Q01196:p.Ser433Arg chr9 35538477 35538480 VAR_034654 + Q8N2Y8:p.Pro654Leu chr16 777114 777117 VAR_034883 - Q9UJJ7:p.Glu124Gln chr16 776148 776151 VAR_034884 - Q9UJJ7:p.Leu247Pro chr11 125586611 125586614 VAR_034887 - Q96CM3:p.Gln44Arg chr11 125586569 125586572 VAR_034888 - Q96CM3:p.Asp58Gly chr11 125584717 125584720 VAR_034889 - Q96CM3:p.Glu155Asp chr11 125580816 125580819 VAR_034890 - Q96CM3:p.Ala209Val chr13 31249534 31249537 VAR_015386 + Q8WXD0:p.Thr222Pro chr13 31269360 31269363 VAR_015387 + Q8WXD0:p.Ile604Val chr9 134539466 134539469 VAR_014620 + P19793:p.Pro261Leu chr9 134546993 134546996 VAR_014621 + P19793:p.Ser336Ile chr18 55091286 55091289 VAR_020150 - Q9Y2V3:p.Asp44Glu chr18 55087680 55087683 VAR_034905 - Q9Y2V3:p.Arg192Gln chr19 43623281 43623284 VAR_005589 + P21817:p.Cys35Arg chr19 43626091 43626094 VAR_032910 + P21817:p.Arg109Trp chr19 43626690 43626693 VAR_005590 + P21817:p.Arg163Cys chr19 43629189 43629192 VAR_005591 + P21817:p.Gly248Arg chr19 43631191 43631194 VAR_005592 + P21817:p.Gly341Arg chr19 43634327 43634330 VAR_005593 + P21817:p.Ile403Met chr19 43635464 43635467 VAR_005594 + P21817:p.Arg471Cys chr19 43637726 43637729 VAR_032911 + P21817:p.Met485Val chr19 43637837 43637840 VAR_005595 + P21817:p.Tyr522Ser chr19 43637950 43637953 VAR_008971 + P21817:p.Arg533His chr19 43638007 43638010 VAR_005596 + P21817:p.Arg552Trp chr19 43640024 43640027 VAR_005597 + P21817:p.Arg614Cys chr19 43640024 43640027 VAR_005598 + P21817:p.Arg614Leu chr19 43650235 43650238 VAR_032912 + P21817:p.Arg1109Lys chr19 43656114 43656117 VAR_032913 + P21817:p.Ser1342Gly chr19 43660924 43660927 VAR_032914 + P21817:p.Ser1489Asn chr19 43668493 43668496 VAR_005599 + P21817:p.Pro1787Leu chr19 43675019 43675022 VAR_005600 + P21817:p.Gly2060Cys chr19 43677043 43677046 VAR_005601 + P21817:p.Arg2163Cys chr19 43677043 43677046 VAR_005602 + P21817:p.Arg2163His chr19 43677043 43677046 VAR_008972 + P21817:p.Arg2163Pro chr19 43677058 43677061 VAR_005603 + P21817:p.Val2168Met chr19 43678761 43678764 VAR_005604 + P21817:p.Thr2206Met chr19 43678761 43678764 VAR_008973 + P21817:p.Thr2206Arg chr19 43682439 43682442 VAR_032915 + P21817:p.Met2423Lys chr19 43682472 43682475 VAR_005605 + P21817:p.Gly2434Arg chr19 43682475 43682478 VAR_005606 + P21817:p.Arg2435His chr19 43682475 43682478 VAR_008974 + P21817:p.Arg2435Leu chr19 43683121 43683124 VAR_008975 + P21817:p.Arg2454Cys chr19 43683121 43683124 VAR_008976 + P21817:p.Arg2454His chr19 43683133 43683136 VAR_008977 + P21817:p.Arg2458Cys chr19 43683133 43683136 VAR_008978 + P21817:p.Arg2458His chr19 43717205 43717208 VAR_032916 + P21817:p.Gln3756Glu chr1 233943735 233943738 VAR_011395 + Q92736:p.Leu433Pro chr1 234104124 234104127 VAR_022078 + Q92736:p.Gly1886Ser chr1 234124276 234124279 VAR_011396 + Q92736:p.Ser2246Leu chr1 234127820 234127823 VAR_023694 + Q92736:p.Val2306Ile chr1 234128408 234128411 VAR_011397 + Q92736:p.Pro2328Ser chr1 234130277 234130280 VAR_011398 + Q92736:p.Asn2386Ile chr1 234137861 234137864 VAR_011399 + Q92736:p.Arg2474Ser chr1 234167429 234167432 VAR_011590 + Q92736:p.Gln2958Arg chr1 234273362 234273365 VAR_011400 + Q92736:p.Asn4104Lys chr1 234273653 234273656 VAR_011401 + Q92736:p.Gln4201Arg chr1 234280781 234280784 VAR_011402 + Q92736:p.Arg4497Cys chr1 234287377 234287380 VAR_011403 + Q92736:p.Val4653Phe chr1 234319918 234319921 VAR_023695 + Q92736:p.Pro4902Leu chr1 234321958 234321961 VAR_023696 + Q92736:p.Arg4959Gln chr15 31728723 31728726 VAR_011406 + Q15413:p.Glu1380Gly chr15 31803558 31803561 VAR_011407 + Q15413:p.2268del chr1 150320807 150320810 VAR_011982 - P06703:p.His27Arg chr1 150320310 150320313 VAR_011983 - P06703:p.Asn69Ser chr1 150320268 150320271 VAR_011984 - P06703:p.Ile83Thr chr1 150320247 150320250 VAR_029281 - P06703:p.Gly90Asp chr1 150143889 150143892 VAR_013008 + P06702:p.His20Arg chr15 46364737 46364738 VAR_010224 + Q13621:p.Asp648Asn chr15 46367531 46367533 VAR_010224 + Q13621:p.Asp648Asn chr16 55456825 55456828 VAR_039475 + P55017:p.Thr60Met chr16 55456831 55456834 VAR_039476 + P55017:p.Asp62Asn chr16 55456849 55456852 VAR_039477 + P55017:p.Glu68Lys chr16 55456852 55456855 VAR_039478 + P55017:p.His69Asn chr16 55456915 55456918 VAR_039479 + P55017:p.His90Tyr chr16 55459712 55459715 VAR_039480 + P55017:p.Arg145His chr16 55459736 55459739 VAR_039481 + P55017:p.Val153Met chr16 55459739 55459742 VAR_039482 + P55017:p.Ile154Phe chr16 55459751 55459754 VAR_039483 + P55017:p.Arg158Gln chr16 55459766 55459769 VAR_039484 + P55017:p.Thr163Met chr16 55461149 55461152 VAR_039485 + P55017:p.Trp172Arg chr16 55461167 55461170 VAR_039486 + P55017:p.Ser178Leu chr16 55461173 55461176 VAR_039487 + P55017:p.Thr180Lys chr16 55461191 55461194 VAR_039488 + P55017:p.Gly186Asp chr16 55461531 55461534 VAR_039489 + P55017:p.Arg209Gln chr16 55461531 55461534 VAR_007113 + P55017:p.Arg209Trp chr16 55461549 55461552 VAR_039490 + P55017:p.Leu215Pro chr16 55461582 55461585 VAR_039491 + P55017:p.Ala226Thr chr16 55461594 55461597 VAR_039492 + P55017:p.Gly230Asp chr16 55462077 55462080 VAR_039493 + P55017:p.Arg261His chr16 55462143 55462146 VAR_039495 + P55017:p.Ser283Tyr chr16 55462146 55462149 VAR_039496 + P55017:p.Lys284Arg chr16 55463820 55463823 VAR_039497 + P55017:p.Thr304Pro chr16 55463847 55463850 VAR_039498 + P55017:p.Ala313Val chr16 55463856 55463859 VAR_039499 + P55017:p.Gly316Val chr16 55463871 55463874 VAR_039500 + P55017:p.Arg321Trp chr16 55464103 55464106 VAR_039501 + P55017:p.Arg334Trp chr16 55464127 55464130 VAR_039502 + P55017:p.Gly342Ala chr16 55464148 55464151 VAR_007114 + P55017:p.Pro349Leu chr16 55469513 55469516 VAR_039503 + P55017:p.Gly374Val chr16 55470499 55470502 VAR_039504 + P55017:p.Arg399Cys chr16 55470565 55470568 VAR_007115 + P55017:p.Cys421Arg chr16 55470619 55470622 VAR_039505 + P55017:p.Gly439Ser chr16 55471005 55471008 VAR_039506 + P55017:p.Gly463Glu chr16 55471008 55471011 VAR_039507 + P55017:p.Ala464Thr chr16 55471050 55471053 VAR_039508 + P55017:p.Lys478Glu chr16 55471554 55471557 VAR_007116 + P55017:p.Asp486Asn chr16 55471584 55471587 VAR_007117 + P55017:p.Gly496Cys chr16 55473864 55473867 VAR_039509 + P55017:p.Leu542Pro chr16 55473903 55473906 VAR_039510 + P55017:p.Ser555Leu chr16 55475469 55475472 VAR_039511 + P55017:p.Pro560His chr16 55475472 55475475 VAR_007118 + P55017:p.561del chr16 55475496 55475499 VAR_039512 + P55017:p.Ala569Glu chr16 55475496 55475499 VAR_039513 + P55017:p.Ala569Val chr16 55475523 55475526 VAR_039514 + P55017:p.Val578Met chr16 55475553 55475556 VAR_007119 + P55017:p.Ala588Val chr16 55476688 55476691 VAR_039515 + P55017:p.Gly613Ser chr16 55476694 55476697 VAR_039516 + P55017:p.Ser615Leu chr16 55476694 55476697 VAR_039517 + P55017:p.Ser615Trp chr16 55476718 55476721 VAR_039518 + P55017:p.Leu623Pro chr16 55476739 55476742 VAR_007120 + P55017:p.Gly630Val chr16 55476775 55476777 VAR_039519 + P55017:p.Arg642Cys chr16 55477776 55477777 VAR_039519 + P55017:p.Arg642Cys chr16 55476775 55476777 VAR_039520 + P55017:p.Arg642Gly chr16 55477776 55477777 VAR_039520 + P55017:p.Arg642Gly chr16 55476775 55476777 VAR_039521 + P55017:p.Arg642His chr16 55477776 55477777 VAR_039521 + P55017:p.Arg642His chr16 55477777 55477780 VAR_039522 + P55017:p.Pro643Leu chr16 55477795 55477798 VAR_039523 + P55017:p.Thr649Arg chr16 55477813 55477816 VAR_039524 + P55017:p.Arg655Cys chr16 55477813 55477816 VAR_007121 + P55017:p.Arg655His chr16 55477813 55477816 VAR_007122 + P55017:p.Arg655Leu chr16 55477864 55477867 VAR_039525 + P55017:p.Met672Ile chr16 55477879 55477882 VAR_039526 + P55017:p.Val677Leu chr16 55477879 55477882 VAR_039527 + P55017:p.Val677Met chr16 55479340 55479343 VAR_007123 + P55017:p.Ala728Thr chr16 55479343 55479346 VAR_039528 + P55017:p.Gly729Val chr16 55479349 55479352 VAR_039529 + P55017:p.Gly731Arg chr16 55479370 55479373 VAR_039530 + P55017:p.Leu738Arg chr16 55479379 55479382 VAR_007124 + P55017:p.Gly741Arg chr16 55486005 55486008 VAR_039536 + P55017:p.Arg871His chr16 55493792 55493795 VAR_039538 + P55017:p.Arg919Cys chr15 32331750 32331753 VAR_014960 - Q9UHW9:p.Phe415Ser chr7 122415079 122415082 VAR_029247 - Q9BZW2:p.Phe42Leu chr7 122415073 122415076 VAR_029248 - Q9BZW2:p.Val44Ile chr7 122403234 122403237 VAR_029249 - Q9BZW2:p.Gln157Glu chr7 122403183 122403186 VAR_022018 - Q9BZW2:p.Asn174Ser chr7 122402423 122402426 VAR_029250 - Q9BZW2:p.Tyr205Cys chr7 122368515 122368518 VAR_029251 - Q9BZW2:p.Arg277His chr7 122363422 122363425 VAR_029252 - Q9BZW2:p.Val332Ala chr7 122359637 122359640 VAR_029253 - Q9BZW2:p.Ile392Thr chr17 23840385 23840388 VAR_029254 + Q13183:p.Leu44Phe chr17 23842878 23842881 VAR_029255 + Q13183:p.Phe254Leu chr17 23844764 23844767 VAR_029256 + Q13183:p.Ala310Pro chr17 23845216 23845219 VAR_020399 + Q13183:p.Pro385Ser chr17 23846919 23846922 VAR_029257 + Q13183:p.Val477Met chr17 23848282 23848285 VAR_020400 + Q13183:p.Ile550Val chr22 29117689 29117692 VAR_024626 + O76054:p.Arg11Lys chr22 29189162 29189165 VAR_024627 - Q9UDX4:p.Ile103Thr chr22 29185382 29185385 VAR_024628 - Q9UDX4:p.Arg214His chr22 29181926 29181929 VAR_022097 - Q9UDX4:p.Asp335Glu chr22 29226143 29226146 VAR_024629 - Q9UDX3:p.Ser3Gly chr13 98176662 98176665 VAR_029321 - P46059:p.Val21Ile chr13 98176641 98176644 VAR_029322 - P46059:p.Phe28Tyr chr13 98174180 98174183 VAR_022147 - P46059:p.Ser117Asn chr13 98174180 98174183 VAR_029323 - P46059:p.Ser117Arg chr13 98156400 98156403 VAR_020457 - P46059:p.Gly419Ala chr13 98154609 98154612 VAR_022148 - P46059:p.Val450Ile chr13 98154606 98154609 VAR_020458 - P46059:p.Thr451Asn chr13 98154582 98154585 VAR_022149 - P46059:p.Arg459Cys chr13 98138574 98138577 VAR_029324 - P46059:p.Pro537Ser chr6 25884927 25884930 VAR_038709 + Q9Y2C5:p.Ala372Thr chr6 74411024 74411027 VAR_018684 - Q9NRA2:p.Arg39Cys chr6 74408251 74408254 VAR_018685 - Q9NRA2:p.Lys136Glu chr6 74404919 74404922 VAR_018686 - Q9NRA2:p.His183Arg chr6 74401828 74401843 VAR_018687 - Q9NRA2:p.268_272del chr6 74388337 74388340 VAR_034746 - Q9NRA2:p.Val296Ile chr6 74381867 74381870 VAR_018688 - Q9NRA2:p.Pro334Arg chr21 45782220 45782223 VAR_020210 - P41440:p.His27Arg chr1 166178578 166178581 VAR_010249 - O60779:p.Asp93His chr1 166178428 166178431 VAR_010250 - O60779:p.Ser143Phe chr1 166178341 166178344 VAR_010248 - O60779:p.Gly172Asp chr2 228392470 228392473 VAR_025992 - Q9BZV2:p.Gly23Val chr2 228378434 228378437 VAR_025993 - Q9BZV2:p.Thr422Ala chr6 160739991 160739994 VAR_020351 + O75751:p.Thr44Met chr6 160740207 160740210 VAR_020352 + O75751:p.Ala116Ser chr5 131690959 131690962 VAR_019528 + Q9H015:p.Ile306Thr chr5 131699531 131699534 VAR_019529 + Q9H015:p.Gly462Glu chr5 131704218 131704221 VAR_019530 + Q9H015:p.Leu503Phe chr5 131733611 131733614 VAR_020347 + O76082:p.Phe17Leu chr5 131742004 131742007 VAR_020348 + O76082:p.Leu144Phe chr5 131747744 131747747 VAR_009252 + O76082:p.Arg169Gln chr5 131747774 131747777 VAR_022564 + O76082:p.Met179Leu chr5 131747870 131747873 VAR_009253 + O76082:p.Tyr211Cys chr5 131750637 131750640 VAR_022565 + O76082:p.Trp283Cys chr5 131750637 131750640 VAR_009254 + O76082:p.Trp283Arg chr5 131756091 131756094 VAR_009255 + O76082:p.Val446Phe chr5 131756100 131756103 VAR_029315 + O76082:p.Tyr449Asp chr5 131756109 131756112 VAR_009256 + O76082:p.Glu452Lys chr5 131756154 131756157 VAR_022566 + O76082:p.Ser467Cys chr5 131756187 131756190 VAR_009257 + O76082:p.Pro478Leu chr5 131756196 131756199 VAR_020349 + O76082:p.Val481Phe chr5 131756196 131756199 VAR_036816 + O76082:p.Val481Ile chr5 131757337 131757340 VAR_029316 + O76082:p.Phe508Leu chr5 131757776 131757779 VAR_029317 + O76082:p.Met530Val chr5 131757833 131757836 VAR_020350 + O76082:p.Pro549Ser chr11 62524817 62524820 VAR_030146 - Q8TCC7:p.Phe129Leu chr11 62523880 62523883 VAR_030147 - Q8TCC7:p.Arg149Ser chr11 62520181 62520184 VAR_030148 - Q8TCC7:p.Ile260Arg chr11 62520130 62520133 VAR_030149 - Q8TCC7:p.Arg277Trp chr11 62520118 62520121 VAR_030150 - Q8TCC7:p.Val281Ala chr11 62519837 62519840 VAR_030151 - Q8TCC7:p.Ile305Phe chr11 62518638 62518641 VAR_030152 - Q8TCC7:p.Ala389Val chr11 62517656 62517659 VAR_030153 - Q8TCC7:p.Val448Ile chr11 62930647 62930650 VAR_036403 + Q8IVM8:p.Ala393Val chr11 62932784 62932787 VAR_036404 + Q8IVM8:p.Met487Val chr11 62932886 62932889 VAR_036405 + Q8IVM8:p.Asn521Lys chr11 64115796 64115799 VAR_036720 + Q96S37:p.Gly65Trp chr11 64115871 64115874 VAR_036721 + Q96S37:p.Arg90His chr11 64115877 64115880 VAR_036722 + Q96S37:p.Arg92Cys chr11 64116835 64116838 VAR_036723 + Q96S37:p.Val138Met chr11 64116913 64116916 VAR_036724 + Q96S37:p.Gly164Ser chr11 64117594 64117597 VAR_036725 + Q96S37:p.Thr217Met chr11 64117696 64117699 VAR_036726 + Q96S37:p.Ala226Val chr11 64122582 64122585 VAR_036727 + Q96S37:p.Arg284Gly chr11 64122600 64122603 VAR_036728 + Q96S37:p.Gly290Cys chr11 64122621 64122624 VAR_036729 + Q96S37:p.Gln297Glu chr11 64122624 64122627 VAR_036730 + Q96S37:p.Glu298Asp chr11 64122645 64122648 VAR_036731 + Q96S37:p.Ile305Ser chr11 64122666 64122669 VAR_036732 + Q96S37:p.Gln312Leu chr11 64122669 64122900 VAR_036733 + Q96S37:p.313_333del chr11 64123796 64123799 VAR_036734 + Q96S37:p.Gln382Leu chr11 64123904 64123907 VAR_036735 + Q96S37:p.Leu418Arg chr11 64124416 64124419 VAR_036736 + Q96S37:p.Met430Thr chr11 64124816 64124819 VAR_036737 + Q96S37:p.Arg477His chr3 38282481 38282484 VAR_025787 + Q9Y226:p.Val43Ile chr3 38292870 38292873 VAR_025788 + Q9Y226:p.Leu443Phe chr10 121669002 121669005 VAR_019806 + Q9Y6Y8:p.Lys644Glu chr1 9574518 9574521 VAR_032861 + Q9BSK2:p.Leu242Ile chr3 39406921 39406924 VAR_032862 + Q96DW6:p.Arg66Gly chr7 87121906 87121909 VAR_032863 - Q8TBP6:p.Thr123Ile chr7 87120987 87120990 VAR_032864 - Q8TBP6:p.Lys186Gln chr19 19073622 19073625 VAR_032970 + Q86VD7:p.Ser39Pro chr19 19082661 19082664 VAR_032971 + Q86VD7:p.Leu312Met chr1 150446772 150446775 VAR_017423 + O95295:p.Ser112Cys chr5 149340111 149340114 VAR_007434 + P50443:p.Gly255Glu chr5 149340183 149340186 VAR_007435 + P50443:p.Arg279Trp chr5 149340366 149340369 VAR_007436 + P50443:p.340del chr5 149340621 149340624 VAR_007437 + P50443:p.Asn425Asp chr5 149340708 149340711 VAR_018654 + P50443:p.Gln454Pro chr5 149341305 149341308 VAR_018655 + P50443:p.Cys653Ser chr5 149341380 149341383 VAR_007438 + P50443:p.Gly678Val chr5 149341413 149341416 VAR_020402 + P50443:p.Thr689Ser chr5 149341491 149341494 VAR_007439 + P50443:p.Ala715Val chr7 107026247 107026250 VAR_007428 - P40879:p.Gly120Ser chr7 107026235 107026238 VAR_007429 - P40879:p.His124Leu chr7 107025620 107025623 VAR_007430 - P40879:p.Pro131Arg chr7 107024036 107024039 VAR_012777 - P40879:p.Ser206Pro chr7 107021272 107021275 VAR_007431 - P40879:p.Cys307Trp chr7 107021242 107021245 VAR_007432 - P40879:p.317del chr7 107014066 107014069 VAR_012778 - P40879:p.Asp468Val chr7 107011035 107011038 VAR_007433 - P40879:p.527del chr7 106896106 106896109 VAR_021638 + O43511:p.Arg24Gly chr7 106896118 106896121 VAR_021639 + O43511:p.Ser28Arg chr7 106896121 106896124 VAR_021640 + O43511:p.Glu29Gln chr7 106897758 106897761 VAR_021641 + O43511:p.Tyr78Cys chr7 106897794 106897797 VAR_021642 + O43511:p.Ser90Leu chr7 106897830 106897831 VAR_021643 + O43511:p.Gly102Arg chr7 106906533 106906535 VAR_021643 + O43511:p.Gly102Arg chr7 106906538 106906541 VAR_021644 + O43511:p.Ala104Val chr7 106906541 106906544 VAR_021645 + O43511:p.Tyr105Cys chr7 106906544 106906547 VAR_021646 + O43511:p.Ala106Asp chr7 106906577 106906580 VAR_021647 + O43511:p.Leu117Phe chr7 106906595 106906598 VAR_027238 + O43511:p.Pro123Ser chr7 106906622 106906625 VAR_021648 + O43511:p.Thr132Ile chr7 106906625 106906628 VAR_021649 + O43511:p.Ser133Thr chr7 106906637 106906640 VAR_021650 + O43511:p.Ser137Pro chr7 106906640 106906643 VAR_021651 + O43511:p.Val138Phe chr7 106906643 106906644 VAR_021652 + O43511:p.Gly139Ala chr7 106908559 106908561 VAR_021652 + O43511:p.Gly139Ala chr7 106908582 106908585 VAR_027239 + O43511:p.Met147Val chr7 106908720 106908723 VAR_011623 + O43511:p.Thr193Ile chr7 106909364 106909367 VAR_007440 + O43511:p.Gly209Val chr7 106909445 106909448 VAR_007441 + O43511:p.Leu236Pro chr7 106909454 106909457 VAR_021653 + O43511:p.Val239Asp chr7 106909493 106909496 VAR_021654 + O43511:p.Ser252Pro chr7 106917642 106917645 VAR_021655 + O43511:p.Asp271His chr7 106923449 106923452 VAR_021656 + O43511:p.Phe335Leu chr7 106923551 106923554 VAR_007442 + O43511:p.Lys369Glu chr7 106923560 106923563 VAR_007443 + O43511:p.Ala372Val chr7 106924519 106924522 VAR_007444 + O43511:p.Glu384Gly chr7 106924540 106924543 VAR_021657 + O43511:p.Ser391Asn chr7 106924543 106924546 VAR_021658 + O43511:p.Asn392Tyr chr7 106924594 106924597 VAR_021659 + O43511:p.Arg409His chr7 106924594 106924597 VAR_021660 + O43511:p.Arg409Pro chr7 106924597 106924600 VAR_021661 + O43511:p.Thr410Met chr7 106924600 106924603 VAR_021662 + O43511:p.Ala411Pro chr7 106924615 106924618 VAR_007445 + O43511:p.Thr416Pro chr7 106924630 106924633 VAR_021663 + O43511:p.Gln421Arg chr7 106928819 106928822 VAR_021664 + O43511:p.429del chr7 106928867 106928870 VAR_011624 + O43511:p.Leu445Trp chr7 106928870 106928873 VAR_021665 + O43511:p.Gln446Arg chr7 106929037 106929040 VAR_021666 + O43511:p.Ile455Phe chr7 106929043 106929046 VAR_021667 + O43511:p.Asn457Lys chr7 106930328 106930331 VAR_021668 + O43511:p.Val480Asp chr7 106930358 106930361 VAR_021669 + O43511:p.Ile490Leu chr7 106930379 106930382 VAR_007446 + O43511:p.Gly497Ser chr7 106930412 106930415 VAR_027240 + O43511:p.Thr508Asn chr7 106930430 106930433 VAR_027241 + O43511:p.Gln514Arg chr7 106932480 106932483 VAR_021670 + O43511:p.Tyr530His chr7 106932480 106932483 VAR_027242 + O43511:p.Tyr530Ser chr7 106934517 106934520 VAR_021671 + O43511:p.Ser552Ile chr7 106934529 106934532 VAR_021672 + O43511:p.Tyr556Cys chr7 106934529 106934532 VAR_021673 + O43511:p.Tyr556His chr7 106934556 106934559 VAR_021674 + O43511:p.Cys565Tyr chr7 106935577 106935580 VAR_021675 + O43511:p.Leu597Ser chr7 106936243 106936246 VAR_027243 + O43511:p.Val609Gly chr7 106936375 106936378 VAR_021676 + O43511:p.Val653Ala chr7 106936414 106936417 VAR_027244 + O43511:p.Ser666Phe chr7 106936417 106936420 VAR_007447 + O43511:p.Phe667Cys chr7 106936432 106936435 VAR_021677 + O43511:p.Gly672Glu chr7 106936444 106936447 VAR_021678 + O43511:p.Leu676Gln chr7 106938738 106938741 VAR_021679 + O43511:p.Phe683Ser chr7 106938771 106938774 VAR_021680 + O43511:p.Ser694Pro chr7 106944520 106944523 VAR_007448 + O43511:p.Thr721Met chr7 106944526 106944529 VAR_007449 + O43511:p.His723Arg chr7 106944529 106944532 VAR_021681 + O43511:p.Asp724Asn chr7 106944577 106944580 VAR_027245 + O43511:p.Gly740Ser chr7 106949824 106949827 VAR_027246 + O43511:p.Arg776Cys chr3 48644448 48644451 VAR_012776 - Q9BXS9:p.Val206Met chr9 128190445 128190448 VAR_023783 + Q6P1M0:p.Gly209Ser chr6 44307724 44307727 VAR_036221 + Q99808:p.Ala293Thr chr6 44309234 44309237 VAR_036222 + Q99808:p.Ile455Val chr11 65895623 65895626 VAR_029289 - Q14542:p.Asp5Tyr chr11 65893486 65893489 VAR_029290 - Q14542:p.Asn68Lys chr11 65893239 65893242 VAR_029291 - Q14542:p.Pro94Leu chr20 61844148 61844151 VAR_025005 + Q9NR83:p.Glu233Asp chrX 48518677 48518680 VAR_036579 - P78381:p.Trp252Cys chr17 45138660 45138663 VAR_023778 - P78383:p.Arg81His chr6 44330693 44330696 VAR_022657 - Q8TB61:p.Leu342Val chr9 96187174 96187177 VAR_037653 - Q76EJ3:p.Ala184Ser chr11 92540898 92540901 VAR_036791 - Q6YBV0:p.Leu209Ile chr11 92527000 92527003 VAR_036792 - Q6YBV0:p.Pro376His chr11 92521578 92521581 VAR_036793 - Q6YBV0:p.Leu429Ile chr14 20537862 20537865 VAR_020265 + Q9NP94:p.Met80Val chr14 20539032 20539035 VAR_020266 + Q9NP94:p.Gly129Glu chr14 20539107 20539110 VAR_020267 + Q9NP94:p.His154Tyr chr19 2684393 2684396 VAR_037599 - Q9BRY0:p.Phe100Leu chr19 2683922 2683925 VAR_037600 - Q9BRY0:p.Pro257Leu chr8 145612223 145612226 VAR_023628 - Q6P5W5:p.Pro84Leu chr8 145612190 145612193 VAR_023629 - Q6P5W5:p.Arg95Cys chr8 145612157 145612160 VAR_023630 - Q6P5W5:p.Asn106Lys chr8 145611485 145611488 VAR_023632 - Q6P5W5:p.Pro200Leu chr8 145610983 145610986 VAR_023634 - Q6P5W5:p.Gln303His chr8 145610965 145610968 VAR_023635 - Q6P5W5:p.Cys309Tyr chr8 145610612 145610615 VAR_023636 - Q6P5W5:p.Gly330Asp chr8 145610486 145610489 VAR_023638 - Q6P5W5:p.Leu372Pro chr8 145610480 145610483 VAR_023639 - Q6P5W5:p.Gly374Arg chr8 145610206 145610209 VAR_023640 - Q6P5W5:p.Leu410Pro chr8 145609477 145609480 VAR_023641 - Q6P5W5:p.Gly526Arg chr8 145608783 145608786 VAR_023642 - Q6P5W5:p.Gly630Arg chr4 103545884 103545887 VAR_037551 - Q9C0K1:p.Ala391Thr chr10 18282316 18282319 VAR_037516 + Q504Y0:p.Ser36Gly chr10 18294603 18294606 VAR_037517 + Q504Y0:p.Thr244Met chr10 18320118 18320121 VAR_037519 + Q504Y0:p.Phe435Leu chr10 18320226 18320229 VAR_037520 + Q504Y0:p.Pro471Thr chr4 8338099 8338102 VAR_034127 + Q8TE82:p.Asp291Asn chr4 8347646 8347649 VAR_035866 + Q8TE82:p.Arg719His chr4 8347844 8347847 VAR_021934 + Q8TE82:p.Arg785Cys chr4 8355335 8355338 VAR_035867 + Q8TE82:p.Ala1130Thr chr5 148388083 148388086 VAR_018267 - Q8TF17:p.Ala468Ser chr5 148387900 148387903 VAR_018268 - Q8TF17:p.Arg529Gln chr5 148387516 148387519 VAR_018269 - Q8TF17:p.Glu657Lys chr5 148387513 148387516 VAR_018270 - Q8TF17:p.Arg658Cys chr2 190265471 190265474 VAR_030057 - Q9NP59:p.Tyr64Asn chr2 190265432 190265435 VAR_022594 - Q9NP59:p.Ala77Asp chr2 190265423 190265426 VAR_030058 - Q9NP59:p.Gly80Ser chr2 190265423 190265426 VAR_030059 - Q9NP59:p.Gly80Val chr2 190262028 190262031 VAR_030060 - Q9NP59:p.Asn144Asp chr2 190262028 190262031 VAR_022595 - Q9NP59:p.Asn144His chr2 190262028 190262031 VAR_030061 - Q9NP59:p.Asn144Thr chr2 190261989 190261992 VAR_022596 - Q9NP59:p.Asp157Gly chr2 190261974 190261977 VAR_022597 - Q9NP59:p.162del chr2 190255823 190255826 VAR_030062 - Q9NP59:p.Asn174Ile chr2 190255802 190255805 VAR_030063 - Q9NP59:p.Asp181Val chr2 190255799 190255802 VAR_022598 - Q9NP59:p.Gln182His chr2 190255601 190255604 VAR_020295 - Q9NP59:p.Gln248His chr2 190254416 190254419 VAR_030064 - Q9NP59:p.Gly267Asp chr2 190254407 190254410 VAR_030065 - Q9NP59:p.Asp270Val chr2 190254248 190254251 VAR_022599 - Q9NP59:p.Gly323Val chr2 190254239 190254242 VAR_030066 - Q9NP59:p.Cys326Tyr chr2 190253921 190253924 VAR_020296 - Q9NP59:p.Met432Val chr2 190253888 190253891 VAR_029299 - Q9NP59:p.Pro443Leu chr2 190252355 190252358 VAR_030067 - Q9NP59:p.Gly490Asp chr2 190252142 190252145 VAR_018980 - Q9NP59:p.Arg561Gly chr5 34020271 34020274 VAR_022710 - Q9UMX9:p.Pro58Ala chr5 34020271 34020274 VAR_022711 - Q9UMX9:p.Pro58Ser chr5 34018188 34018191 VAR_022712 - Q9UMX9:p.Asp157Asn chr5 33999834 33999837 VAR_022714 - Q9UMX9:p.Trp202Cys chr5 33999777 33999780 VAR_022715 - Q9UMX9:p.221del chr5 33999624 33999627 VAR_022716 - Q9UMX9:p.Glu272Lys chr5 33990303 33990306 VAR_022717 - Q9UMX9:p.Tyr317Cys chr5 33987488 33987491 VAR_022718 - Q9UMX9:p.Leu361Pro chr5 33987449 33987452 VAR_012162 - Q9UMX9:p.Leu374Phe chr5 33980671 33980674 VAR_022719 - Q9UMX9:p.Ala477Thr chr5 33980644 33980647 VAR_022720 - Q9UMX9:p.Ala486Val chr5 33980602 33980605 VAR_022721 - Q9UMX9:p.Thr500Pro chr5 33980581 33980584 VAR_022722 - Q9UMX9:p.Val507Leu chr17 19404182 19404185 VAR_037587 + Q96FL8:p.Val338Ile chr17 19525560 19525563 VAR_037358 - Q86VL8:p.Gly429Arg chr20 3162849 3162852 VAR_034944 - Q8NBS3:p.Asn150Ser chr20 3162819 3162822 VAR_034945 - Q8NBS3:p.Ala160Thr chr20 3162580 3162583 VAR_034946 - Q8NBS3:p.Ser213Pro chr20 3159483 3159486 VAR_015521 - Q8NBS3:p.Gln408His chr20 3159480 3159483 VAR_015522 - Q8NBS3:p.Lys409Asn chr20 3159231 3159234 VAR_030662 - Q8NBS3:p.Gly464Asp chr20 3159174 3159177 VAR_015523 - Q8NBS3:p.Met483Thr chr20 3158902 3158905 VAR_030663 - Q8NBS3:p.Ser489Leu chr20 3157599 3157602 VAR_015524 - Q8NBS3:p.Thr708Ala chr20 3157328 3157331 VAR_030664 - Q8NBS3:p.Arg755Gln chr20 3157181 3157184 VAR_034948 - Q8NBS3:p.Arg804His chr20 3157038 3157041 VAR_034949 - Q8NBS3:p.Val824Met chr20 3157011 3157014 VAR_034950 - Q8NBS3:p.Thr833Met chr20 3156981 3156984 VAR_034951 - Q8NBS3:p.Leu843Pro chr20 3156966 3156969 VAR_034952 - Q8NBS3:p.Met848Ile chr20 3156942 3156945 VAR_034953 - Q8NBS3:p.Met856Val chr4 72678455 72678458 VAR_024751 + Q9Y6R1:p.Arg342Ser chr4 72684334 72684337 VAR_024752 + Q9Y6R1:p.Ser471Leu chr4 72697282 72697285 VAR_024753 + Q9Y6R1:p.Thr529Ser chr4 72703478 72703481 VAR_024754 + Q9Y6R1:p.Arg554His chr4 72777185 72777188 VAR_024755 + Q9Y6R1:p.Ala843Val chr4 72788472 72788475 VAR_024756 + Q9Y6R1:p.Arg925Cys chr5 1278625 1278628 VAR_027975 + Q96N87:p.Cys12Ser chr5 1254933 1254936 VAR_023314 + Q695T7:p.Arg57Cys chr5 1265452 1265455 VAR_023315 + Q695T7:p.Asp173Asn chr5 1266631 1266634 VAR_023316 + Q695T7:p.Arg240Gln chr5 1266637 1266640 VAR_023317 + Q695T7:p.Leu242Pro chr5 1266667 1266670 VAR_023318 + Q695T7:p.Val252Ile chr5 1272741 1272744 VAR_023319 + Q695T7:p.Glu501Lys chr3 45812888 45812891 VAR_021862 - Q9NP91:p.Ala9Gly chr3 171683929 171683932 VAR_035417 - Q8TBB6:p.Gly330Arg chr16 66902258 66902261 VAR_032591 - Q96CW6:p.Val24Met chr16 66901861 66901864 VAR_032593 - Q96CW6:p.Ser116Ala chr16 66895447 66895450 VAR_032594 - Q96CW6:p.Tyr220Cys chr6 110143027 110143030 VAR_036974 + Q92562:p.Ile41Thr chr6 110171620 110171623 VAR_020378 + Q92562:p.Met364Leu chr6 110214208 110214211 VAR_022826 + Q92562:p.Val654Ala chr6 88830633 88830636 VAR_027258 + Q9HBV2:p.Leu237Ser chr17 28346742 28346745 VAR_028885 + Q8IXA5:p.Cys80Tyr chr17 28346802 28346805 VAR_028886 + Q8IXA5:p.His100Arg chr19 39637262 39637265 VAR_017689 + Q9UBT2:p.Leu307Arg chr14 21063476 21063479 VAR_014129 - Q9Y467:p.Ser75Cys chr18 74853405 74853408 VAR_035552 + Q9BXA9:p.Arg143His chr20 49840907 49840910 VAR_016042 - Q9UJQ4:p.Leu507Arg chr20 49840034 49840037 VAR_016043 - Q9UJQ4:p.Ile798Leu chr20 49838884 49838887 VAR_033054 - Q9UJQ4:p.His888Arg chr3 171127409 171127412 VAR_029586 + Q7Z3H4:p.Glu220Asp chr7 92379632 92379635 VAR_031526 - Q5K651:p.Ile143Thr chr7 92378714 92378717 VAR_031527 - Q5K651:p.Asn449Ser chr7 92378414 92378417 VAR_031528 - Q5K651:p.Val549Leu chr7 92375576 92375579 VAR_031529 - Q5K651:p.Lys1495Glu chr1 156371319 156371322 VAR_035814 + P02743:p.Gly141Ser chr1 156371361 156371364 VAR_006054 + P02743:p.Glu155Gly chr1 156371370 156371373 VAR_006055 + P02743:p.Ser158Gly chr10 73261647 73261650 VAR_042440 - P07602:p.70del chr10 73257851 73257854 VAR_031823 - P07602:p.Asn215His chr10 73257851 73257854 VAR_031899 - P07602:p.Asn215Lys chr10 73257845 73257848 VAR_006943 - P07602:p.Thr217Ile chr10 73255653 73255656 VAR_006944 - P07602:p.Cys241Ser chr10 73249621 73249624 VAR_042441 - P07602:p.Leu349Pro chr10 73249504 73249507 VAR_006945 - P07602:p.Cys388Phe chr5 133984588 133984591 VAR_016806 - Q9Y6B6:p.Gly37Arg chr5 133972029 133972032 VAR_016807 - Q9Y6B6:p.Asp137Asn chr5 133970598 133970601 VAR_016808 - Q9Y6B6:p.Ser179Arg chr9 133628783 133628786 VAR_039077 - Q9UL12:p.Gly22Cys chr9 133612035 133612038 VAR_039078 - Q9UL12:p.Glu372Asp chr9 133589012 133589015 VAR_019687 - Q9UL12:p.Arg614His chr9 133585180 133585183 VAR_019688 - Q9UL12:p.Met648Val chr1 203586648 203586651 VAR_038775 - Q9BW04:p.Pro87Ser chr1 203585182 203585185 VAR_038776 - Q9BW04:p.Thr107Ala chr1 203585032 203585035 VAR_038777 - Q9BW04:p.Asn157Thr chr1 203584729 203584732 VAR_038778 - Q9BW04:p.Arg258Gly chr1 203584201 203584204 VAR_038779 - Q9BW04:p.Asn434Ser chr1 203583961 203583964 VAR_038781 - Q9BW04:p.Phe514Ser chr12 107457328 107457331 VAR_038802 - Q15020:p.Asp23Glu chr12 107426527 107426530 VAR_038683 - Q15020:p.Val591Met chr12 107426437 107426440 VAR_038684 - Q15020:p.Glu621Asp chr1 100287952 100287955 VAR_021590 - Q6UVJ0:p.Ala259Val chr17 7470624 7470627 VAR_020465 - Q96F10:p.Arg126Cys chrX 84169282 84169285 VAR_031438 - Q86VE3:p.Trp92Arg chr2 65128536 65128539 VAR_011878 + P43007:p.Gly37Arg chr2 65157015 65157018 VAR_011879 + P43007:p.Val399Ile chr14 50181462 50181465 VAR_015880 - Q9H4B6:p.Ala185Asp chr7 65904530 65904533 VAR_015390 - Q9Y3A5:p.Asn8Lys chr7 65903474 65903477 VAR_015391 - Q9Y3A5:p.Glu44Gly chr7 65903405 65903408 VAR_015392 - Q9Y3A5:p.Lys67Glu chr7 65902551 65902554 VAR_015393 - Q9Y3A5:p.Ile87Ser chr7 65902434 65902437 VAR_015394 - Q9Y3A5:p.Arg126Thr chr7 65900390 65900393 VAR_015395 - Q9Y3A5:p.Arg169Cys chr7 65897624 65897627 VAR_015396 - Q9Y3A5:p.Ile212Thr chr14 38625933 38625936 VAR_031029 - Q15436:p.Leu211Val chr14 38606208 38606211 VAR_031030 - Q15436:p.Phe382Leu chr20 18461370 18461373 VAR_034482 + Q15437:p.Pro433Leu chr20 18470999 18471002 VAR_020318 + Q15437:p.His489Gln chr10 102259194 102259197 VAR_033228 - Q9NQW1:p.Val89Ala chr10 102259161 102259164 VAR_033229 - Q9NQW1:p.Tyr100Cys chr10 102259074 102259077 VAR_033230 - Q9NQW1:p.Leu129Phe chr10 102255834 102255837 VAR_033231 - Q9NQW1:p.Ser332Ala chr10 102255170 102255173 VAR_033232 - Q9NQW1:p.Pro372Ser chr10 102248909 102248912 VAR_033233 - Q9NQW1:p.Ser527Arg chr10 102237395 102237398 VAR_033234 - Q9NQW1:p.Ala1169Ser chr22 30763903 30763906 VAR_013630 + P13866:p.Asp28Gly chr22 30763903 30763906 VAR_007168 + P13866:p.Asp28Asn chr22 30770498 30770501 VAR_029147 + P13866:p.Asn51Ser chr22 30789066 30789069 VAR_021502 + P13866:p.Arg135Trp chr22 30805506 30805509 VAR_021503 + P13866:p.Gly318Arg chr22 30812253 30812256 VAR_029148 + P13866:p.Ala411Thr chr22 30819844 30819847 VAR_021504 + P13866:p.Ala468Val chr16 31409297 31409300 VAR_019310 + P31639:p.Asn654Ser chr22 30974751 30974754 VAR_021997 - Q9NY91:p.Ala46Thr chr19 17844404 17844407 VAR_010263 + Q92911:p.Gly93Arg chr19 17844431 17844434 VAR_010264 + Q92911:p.Ala102Pro chr19 17849631 17849634 VAR_010265 + Q92911:p.Gln267Glu chr19 17853769 17853772 VAR_010266 + Q92911:p.Thr354Pro chr19 17853968 17853971 VAR_010267 + Q92911:p.Gly395Arg chr19 17860218 17860221 VAR_010268 + Q92911:p.Thr536Gln chr19 17860239 17860242 VAR_010269 + Q92911:p.Gly543Glu chr19 17862708 17862711 VAR_010270 + Q92911:p.Ser556Gln chr2 108067165 108067168 VAR_020524 + Q9GZV3:p.Ile89Val chr11 120679378 120679381 VAR_014423 + O75845:p.Arg29Gln chr11 120679429 120679432 VAR_020829 + O75845:p.Tyr46Ser chr11 120683161 120683164 VAR_014424 + O75845:p.Gly211Asp chr17 37220966 37220969 VAR_020417 - Q92791:p.Gln186Arg chr16 54291644 54291647 VAR_010022 + P23975:p.Ala457Pro chr5 1494528 1494531 VAR_036158 - Q01959:p.Gly121Ser chr5 1475071 1475074 VAR_014180 - Q01959:p.Arg237Gln chr5 1456171 1456174 VAR_036159 - Q01959:p.Arg544Ser chr17 25572934 25572937 VAR_014181 - P31645:p.Gly56Ala chr17 25569356 25569359 VAR_029158 - P31645:p.Lys201Asn chr17 25562497 25562500 VAR_036788 - P31645:p.Ile425Leu chr17 25562497 25562500 VAR_026751 - P31645:p.Ile425Val chr17 25561712 25561715 VAR_036789 - P31645:p.Phe465Leu chr17 25558875 25558878 VAR_036790 - P31645:p.Leu550Val chr17 25554318 25554321 VAR_014182 - P31645:p.Lys605Asn chr3 14460194 14460197 VAR_011767 + P31641:p.Ile17Met chr3 14460197 14460200 VAR_011768 + P31641:p.Leu18Val chr3 14474567 14474570 VAR_011769 + P31641:p.Trp236Cys chr5 149562404 149562407 VAR_011390 + Q99884:p.Leu345Val chrX 152475134 152475137 VAR_020525 + P48029:p.Gly87Arg chrX 152477700 152477703 VAR_034483 + P48029:p.Thr164Ser chrX 152479887 152479888 VAR_020526 + P48029:p.Gly381Arg chrX 152480206 152480208 VAR_020526 + P48029:p.Gly381Arg chrX 152480232 152480235 VAR_020527 + P48029:p.Pro390Leu chrX 152480286 152480289 VAR_020528 + P48029:p.408del chrX 152481083 152481086 VAR_020529 + P48029:p.Pro554Leu chr15 74513517 74513520 VAR_019978 - Q9BY12:p.Pro1088Thr chr3 47434680 47434683 VAR_012203 - Q12770:p.Val798Ile chr8 27571993 27571996 VAR_025228 + Q6AZY7:p.Arg130Gln chr8 27572578 27572581 VAR_025229 + Q6AZY7:p.Met325Thr chr8 27572872 27572875 VAR_025230 + Q6AZY7:p.Arg423Gln chr8 27572887 27572890 VAR_025231 + Q6AZY7:p.Val428Ile chr8 27584364 27584367 VAR_025232 + Q6AZY7:p.Phe467Leu chr8 27584616 27584619 VAR_025233 + Q6AZY7:p.Pro551Ser chr8 27823147 27823150 VAR_030915 - Q6ZMJ2:p.Asp316His chr14 30169487 30169490 VAR_019616 + Q8WVM8:p.Lys63Arg chr4 53852452 53852455 VAR_024687 - Q8WU76:p.Leu512Ser chr20 5851066 5851069 VAR_043578 + P05060:p.Ser93Thr chr20 5851138 5851141 VAR_024414 + P05060:p.Lys117Asn chr20 5851222 5851225 VAR_028235 + P05060:p.Asp145Asn chr20 5851321 5851324 VAR_020287 + P05060:p.Arg178Gln chr20 5851387 5851390 VAR_028236 + P05060:p.Asn200His chr20 5851483 5851486 VAR_028237 + P05060:p.Arg232Gln chr20 5851846 5851849 VAR_024416 + P05060:p.Ala353Gly chr20 5852026 5852029 VAR_028238 + P05060:p.Pro413Leu chr20 5852038 5852041 VAR_022012 + P05060:p.Arg417His chr15 49762898 49762901 VAR_013827 + Q8WXD2:p.Ser125Asn chr15 49771653 49771656 VAR_034484 + Q8WXD2:p.Met233Val chr3 161097241 161097244 VAR_032534 + Q9P0W5:p.Ala481Val chr19 40216395 40216398 VAR_010165 + Q07699:p.Cys121Trp chr2 165977894 165977897 VAR_029732 + Q99250:p.Arg19Lys chr2 165990767 165990770 VAR_029733 + Q99250:p.Arg188Trp chr2 165991429 165991432 VAR_029734 + Q99250:p.Arg223Gln chr2 165995754 165995757 VAR_029735 + Q99250:p.Phe385Tyr chr2 165997673 165997676 VAR_029736 + Q99250:p.Arg524Gln chr2 166026682 166026685 VAR_029737 + Q99250:p.Val892Ile chr2 166036295 166036298 VAR_029738 + Q99250:p.Leu1003Ile chr2 166055346 166055349 VAR_029739 + Q99250:p.Arg1319Gln chr2 166056716 166056719 VAR_029740 + Q99250:p.Leu1330Phe chr2 166068897 166068900 VAR_029741 + Q99250:p.Leu1563Val chr2 166071526 166071529 VAR_029742 + Q99250:p.Arg1902Thr chr11 117544662 117544665 VAR_029131 - O60939:p.Arg28Trp chr11 117544605 117544608 VAR_029132 - O60939:p.Arg47His chr11 123018541 123018544 VAR_035521 - Q9NY72:p.Gln89Leu chr17 59403304 59403307 VAR_001560 - P35499:p.Met135Val chr17 59399412 59399415 VAR_017785 - P35499:p.Ser246Leu chr17 59395676 59395679 VAR_017786 - P35499:p.Val445Met chr17 59392452 59392455 VAR_017787 - P35499:p.Asn559Asp chr17 59390368 59390371 VAR_017788 - P35499:p.Arg669His chr17 59390359 59390362 VAR_017789 - P35499:p.Arg672Gly chr17 59390359 59390362 VAR_017790 - P35499:p.Arg672His chr17 59390359 59390362 VAR_017791 - P35499:p.Arg672Ser chr17 59388604 59388607 VAR_037104 - P35499:p.Arg675Gly chr17 59388604 59388607 VAR_037105 - P35499:p.Arg675Gln chr17 59388604 59388607 VAR_037106 - P35499:p.Arg675Trp chr17 59388517 59388520 VAR_001562 - P35499:p.Thr704Met chr17 59382956 59382959 VAR_001563 - P35499:p.Ser804Phe chr17 59382785 59382788 VAR_001564 - P35499:p.Ala861Asp chr17 59376715 59376718 VAR_022341 - P35499:p.Ala1152Asp chr17 59376703 59376706 VAR_001565 - P35499:p.Ala1156Thr chr17 59376697 59376700 VAR_017792 - P35499:p.Pro1158Ser chr17 59376691 59376694 VAR_017793 - P35499:p.Ile1160Val chr17 59375797 59375800 VAR_001566 - P35499:p.Val1293Ile chr17 59374936 59374939 VAR_001567 - P35499:p.Gly1306Ala chr17 59374936 59374939 VAR_001568 - P35499:p.Gly1306Glu chr17 59374936 59374939 VAR_001569 - P35499:p.Gly1306Val chr17 59374915 59374918 VAR_001570 - P35499:p.Thr1313Met chr17 59373074 59373077 VAR_001571 - P35499:p.Leu1433Arg chr17 59373047 59373050 VAR_017795 - P35499:p.Val1442Glu chr17 59373029 59373032 VAR_001572 - P35499:p.Arg1448Cys chr17 59373029 59373032 VAR_001573 - P35499:p.Arg1448His chr17 59373005 59373008 VAR_037107 - P35499:p.Gly1456Glu chr17 59372606 59372609 VAR_001574 - P35499:p.Val1589Met chr17 59372597 59372600 VAR_001575 - P35499:p.Met1592Val chr2 167138955 167138958 VAR_024410 - Q01118:p.Ile407Val chr3 38768941 38768944 VAR_020605 - Q9Y5Y9:p.Ser509Pro chr3 38740000 38740003 VAR_020607 - Q9Y5Y9:p.Leu1092Pro chr3 38924473 38924476 VAR_030002 - Q9UI33:p.Gly481Glu chr3 38913411 38913414 VAR_030003 - Q9UI33:p.Met777Arg chr3 38888104 38888107 VAR_030004 - Q9UI33:p.Tyr1198His chr12 6328608 6328611 VAR_015833 - P37088:p.Trp493Arg chr12 6327623 6327626 VAR_015834 - P37088:p.Ser562Leu chr12 6327455 6327458 VAR_022142 - P37088:p.Cys618Phe chr12 6327320 6327323 VAR_015835 - P37088:p.Thr663Ala chr16 23267529 23267532 VAR_007127 + P51168:p.Gly37Ser chr16 23290170 23290173 VAR_036480 + P51168:p.Ala311Val chr16 23290179 23290182 VAR_036481 + P51168:p.Ala314Val chr16 23290245 23290248 VAR_015836 + P51168:p.Ala336Pro chr16 23294565 23294568 VAR_036482 + P51168:p.Leu387Val chr16 23296015 23296018 VAR_015837 + P51168:p.Val434Met chr16 23296039 23296042 VAR_014891 + P51168:p.Gly442Val chr16 23299386 23299389 VAR_026519 + P51168:p.Arg563Gln chr16 23299464 23299467 VAR_015838 + P51168:p.Gly589Ser chr16 23299479 23299482 VAR_014892 + P51168:p.Thr594Met chr16 23299488 23299491 VAR_015839 + P51168:p.Arg597His chr16 23299545 23299548 VAR_007128 + P51168:p.Pro616Leu chr16 23299545 23299548 VAR_007129 + P51168:p.Pro616Ser chr16 23299548 23299551 VAR_026520 + P51168:p.Pro617Ser chr16 23299551 23299554 VAR_026521 + P51168:p.Pro618Arg chr16 23299557 23299560 VAR_026522 + P51168:p.Tyr620His chr16 23299569 23299572 VAR_015840 + P51168:p.Arg624Cys chr16 23299593 23299596 VAR_015841 + P51168:p.Glu632Gly chr1 1262188 1262191 VAR_028209 + P51172:p.Arg180Pro chr1 1263307 1263310 VAR_028210 + P51172:p.Glu380Gln chr1 1265985 1265988 VAR_028211 + P51172:p.Ala472Thr chr1 1266589 1266592 VAR_028212 + P51172:p.Cys532Tyr chr1 1266679 1266682 VAR_028213 + P51172:p.Gly562Ser chr1 1266811 1266814 VAR_028214 + P51172:p.Gly606Arg chr16 23105237 23105240 VAR_014893 + P51170:p.Gly49Cys chr16 23105264 23105267 VAR_036483 + P51170:p.Gly58Arg chr16 23108406 23108409 VAR_015842 + P51170:p.Arg178Trp chr16 23108421 23108424 VAR_014894 + P51170:p.Gly183Ser chr16 23108463 23108466 VAR_034485 + P51170:p.Glu197Lys chr16 23133543 23133546 VAR_015843 + P51170:p.Ala502Pro chr16 23134180 23134183 VAR_015844 + P51170:p.Ala614Ser chr17 10541375 10541378 VAR_014537 - O75880:p.Pro58Ser chr17 10536845 10536848 VAR_012109 - O75880:p.Pro174Leu chr22 49252924 49252927 VAR_011738 - O43819:p.Arg20Pro chr22 49252564 49252567 VAR_008874 - O43819:p.Glu140Lys chr22 49252471 49252474 VAR_013238 - O43819:p.Arg171Trp chr22 49252309 49252312 VAR_008875 - O43819:p.Ser225Phe chr5 41898513 41898516 VAR_000695 - P55809:p.Thr58Met chr5 41889292 41889295 VAR_000696 - P55809:p.Val133Glu chr5 41878547 41878550 VAR_010337 - P55809:p.Gly219Glu chr5 41878541 41878544 VAR_010338 - P55809:p.Val221Met chr5 41839005 41839008 VAR_010339 - P55809:p.Gly324Glu chr5 41785436 41785439 VAR_000697 - P55809:p.Cys456Phe chr1 243256604 243256607 VAR_034486 + Q8NBX0:p.Gly418Arg chr12 123873140 123873143 VAR_017098 - Q8WTV0:p.Gly2Ser chr12 123824419 123824422 VAR_017099 - Q8WTV0:p.Val135Ile chr12 123823756 123823759 VAR_017100 - Q8WTV0:p.Gly167Ser chr12 123821334 123821337 VAR_019507 - Q8WTV0:p.Ser229Gly chr12 123795650 123795653 VAR_017101 - Q8WTV0:p.Cys511Arg chr4 174687169 174687172 VAR_020329 - O75711:p.Pro42Leu chr7 29739379 29739382 VAR_029512 - Q12765:p.Gln338Arg chr17 43272602 43272605 VAR_029509 - Q96FV2:p.Lys103Arg chr17 43271014 43271017 VAR_035263 - Q96FV2:p.Glu273Gln chr17 43270763 43270766 VAR_035264 - Q96FV2:p.Gln330Arg chr17 43270253 43270256 VAR_029511 - Q96FV2:p.Ser411Gly chr2 175091417 175091420 VAR_034487 + Q0VDG4:p.Val179Ala chr2 119947297 119947300 VAR_033970 - P47872:p.Ala122Pro chr22 41947890 41947893 VAR_028850 - Q8IWY4:p.Gly398Arg chr22 41934702 41934705 VAR_028851 - Q8IWY4:p.Ser648Pro chr11 9025620 9025623 VAR_028870 - Q9NQ36:p.Thr591Met chr11 9008049 9008052 VAR_028873 - Q9NQ36:p.Thr791Ser chr11 9005571 9005574 VAR_028874 - Q9NQ36:p.Pro843Arg chr5 64132900 64132903 VAR_037686 + Q6UX04:p.Pro256Ala chr1 31018737 31018740 VAR_027251 - O75056:p.Val208Ile chr1 31016489 31016492 VAR_027252 - O75056:p.Asp303Asn chr1 31016411 31016414 VAR_027253 - O75056:p.Thr329Ile chr20 43410402 43410405 VAR_021851 - P31431:p.Phe12Leu chr8 59647391 59647394 VAR_013160 + O00560:p.Asn69Ser chr7 3889905 3889908 VAR_025529 + Q7Z5N4:p.Asp1016Asn chr7 3987214 3987217 VAR_025530 + Q7Z5N4:p.His1641Arg chr2 192536767 192536770 VAR_034422 - O95810:p.Glu130Asp chr14 81042192 81042195 VAR_029303 - Q9UBV2:p.Asp162Gly chr22 25012984 25012987 VAR_043338 + Q9BYH1:p.Pro52Leu chr22 25013383 25013386 VAR_024348 + Q9BYH1:p.Trp185Leu chr22 25019628 25019631 VAR_020330 + Q9BYH1:p.Met430Ile chr22 25034417 25034420 VAR_043339 + Q9BYH1:p.Gln671His chr9 89192562 89192565 VAR_025282 + Q96T21:p.Arg540Gln chr5 172504193 172504196 VAR_019169 + Q12981:p.Gln14His chr6 108311013 108311016 VAR_019645 - Q9UGP8:p.568del chr22 41275554 41275557 VAR_021962 + Q9H4I8:p.Ser46Asn chr12 107520363 107520366 VAR_019156 - Q14242:p.Met62Ile chr12 107520126 107520156 VAR_005611 - Q14242:p.132_141del chr12 107519811 107519814 VAR_019157 - Q14242:p.Pro246Ser chr7 83384496 83384499 VAR_036283 - Q14563:p.Ala131Thr chr7 80072178 80072181 VAR_020346 - Q99985:p.Val337Met chr7 84273637 84273640 VAR_021513 - O95025:p.Lys701Gln chr3 50197214 50197217 VAR_011820 + Q13275:p.Ala474Gly chr3 50197929 50197932 VAR_008855 + Q13275:p.Leu503Met chr3 52450436 52450439 VAR_030292 - Q9NS98:p.Ile232Thr chr1 152945856 152945859 VAR_028322 + Q9H3S1:p.Asp345His chr1 152945871 152945874 VAR_028323 + Q9H3S1:p.Phe350Cys chr1 152958042 152958045 VAR_028324 + Q9H3S1:p.Arg510Gln chr1 152959711 152959714 VAR_028325 + Q9H3S1:p.Arg713Gln chr5 9255260 9255263 VAR_030294 - Q13591:p.Val246Leu chr5 9116140 9116143 VAR_030295 - Q13591:p.Ser792Leu chr5 115839170 115839173 VAR_030297 - Q9H2E6:p.Arg559His chr5 115839146 115839149 VAR_030298 - Q9H2E6:p.Asp567Glu chr15 72497688 72497691 VAR_029282 - O75326:p.Ser115Thr chr15 72496768 72496771 VAR_038836 - O75326:p.Arg207Gln chr15 72496768 72496771 VAR_038837 - O75326:p.Arg207Trp chr15 72491320 72491323 VAR_038838 - O75326:p.Arg460His chr15 72491317 72491320 VAR_038839 - O75326:p.Arg461Cys chr20 43269586 43269589 VAR_005610 + P04279:p.Ser79Thr chr20 43270465 43270468 VAR_022679 + P04279:p.Arg372Leu chr20 43283813 43283816 VAR_034489 + Q02383:p.Gln43Lys chr20 43283855 43283858 VAR_034490 + Q02383:p.Thr57Ala chr20 43284506 43284509 VAR_024630 + Q02383:p.Ser274Asn chr20 43284521 43284524 VAR_034491 + Q02383:p.His279Tyr chr20 43284788 43284791 VAR_024631 + Q02383:p.Gly368Arg chr1 180752600 180752603 VAR_019457 + Q8WW01:p.Gly19Asp chr1 180755183 180755186 VAR_019458 + Q8WW01:p.Gln59His chr17 71024476 71024479 VAR_019461 + Q7Z6J9:p.His38Gln chr12 46754816 46754819 VAR_029648 - Q9P0U3:p.Ile193Val chr12 46745714 46745717 VAR_029649 - Q9P0U3:p.Asp350Gly chr3 186813865 186813868 VAR_029650 + Q9HC62:p.Thr301Lys chr6 76401149 76401152 VAR_029653 + Q9GZR1:p.Thr121Met chr6 76445078 76445081 VAR_029654 + Q9GZR1:p.Glu637Lys chr6 76462312 76462315 VAR_029655 + Q9GZR1:p.Arg717Pro chr6 76482006 76482009 VAR_016096 + Q9GZR1:p.Tyr1106Cys chr3 102660535 102660538 VAR_029651 - Q9BQF6:p.Lys79Gln chr3 102549406 102549409 VAR_029652 - Q9BQF6:p.Gln546His chr15 70219636 70219639 VAR_023705 + Q96LD8:p.Thr207Ala chr17 72909884 72909887 VAR_020667 + Q9UHD8:p.Arg76Cys chr17 72909974 72909977 VAR_033101 + Q9UHD8:p.Arg106Trp chr17 72909989 72909992 VAR_033102 + Q9UHD8:p.Ser111Phe chr17 72910091 72910094 VAR_020668 + Q9UHD8:p.Pro145Leu chr17 73006299 73006302 VAR_020669 + Q9UHD8:p.Met576Val chr1 119997534 119997537 VAR_013461 + O43175:p.Val425Met chr1 119998570 119998573 VAR_013462 + O43175:p.Val490Met chr7 55863018 55863021 VAR_022378 - P78330:p.Asp32Asn chr7 55861620 55861623 VAR_022379 - P78330:p.Met52Thr chr20 42562461 42562464 VAR_014315 - Q13530:p.Thr437Ala chr9 78149310 78149313 VAR_037252 + Q9Y617:p.Asp100Ala chr11 74955162 74955165 VAR_028445 + P50454:p.Ala41Pro chr2 179873329 179873332 VAR_036963 - Q86VW0:p.Tyr49Phe chr6 109430209 109430212 VAR_014210 - Q9Y6P5:p.Leu44Ile chr1 28284748 28284751 VAR_022101 + P58004:p.Thr320Ala chr1 147728432 147728435 VAR_014284 + Q15047:p.Asn236Ser chr1 147735009 147735012 VAR_031281 + Q15047:p.Pro506Ser chr1 147744865 147744868 VAR_014286 + Q15047:p.Ala824Gly chr1 147744865 147744868 VAR_014285 + Q15047:p.Ala824Pro chr13 48948619 48948622 VAR_031282 + Q96T68:p.Glu117Gly chr13 48955097 48955099 VAR_016976 + Q96T68:p.Val473Met chr13 48955600 48955601 VAR_016976 + Q96T68:p.Val473Met chr18 40783993 40783996 VAR_024347 + Q9Y6X0:p.Val177Leu chr18 40786690 40786693 VAR_020317 + Q9Y6X0:p.Pro1076Thr chr18 40786786 40786789 VAR_035987 + Q9Y6X0:p.Arg1108Trp chr14 98949055 98949058 VAR_028830 - Q86TU7:p.Asn278Asp chr21 36332344 36332347 VAR_021948 - Q9NVD3:p.Ile387Val chr21 36330347 36330350 VAR_035988 - Q9NVD3:p.Glu420Gly chr11 64291889 64291892 VAR_017196 - Q15637:p.Ser357Thr chr22 29059541 29059544 VAR_036290 - Q15459:p.Arg511Trp chr19 50252857 50252860 VAR_016809 + Q8N2M8:p.Lys159Glu chr2 183528839 183528842 VAR_021411 - Q92765:p.Arg200Trp chr2 183525087 183525090 VAR_014862 - Q92765:p.Arg324Gly chr10 99521559 99521562 VAR_021412 - Q5T4F7:p.Gly7Ala chr17 53438814 53438817 VAR_035488 - Q07955:p.Pro89Ser chr14 69307501 69307504 VAR_014713 + Q13243:p.Ala160Ser chr20 41522137 41522140 VAR_035489 + Q13247:p.Arg145Gln chr6 166710054 166710057 VAR_034492 - Q8WV19:p.Ile109Val chr2 128175443 128175446 VAR_026558 + Q587I9:p.Arg38Gly chr10 81041611 81041614 VAR_004184 + Q8IWL2:p.Asn9Thr chr10 81041641 81041644 VAR_021292 + Q8IWL2:p.Val19Ala chr10 81041734 81041737 VAR_012231 + Q8IWL2:p.Leu50Val chr10 81043782 81043785 VAR_012232 + Q8IWL2:p.Arg219Trp chr10 81043794 81043797 VAR_012233 + Q8IWL2:p.Gln223Lys chr10 81696302 81696305 VAR_020937 - P35247:p.Met31Thr chr10 81692187 81692190 VAR_020938 - P35247:p.Leu123Val chr10 81687845 81687848 VAR_020940 - P35247:p.Ser290Thr chr10 81687788 81687791 VAR_020941 - P35247:p.Glu309Lys chr6 31007501 31007504 VAR_034423 - Q6UW10:p.Asn37Ser chr8 7296114 7296117 VAR_005269 - Q08648:p.Arg77Gln chr11 61767437 61767440 VAR_020254 + O95969:p.Pro53Leu chr11 61767518 61767521 VAR_020255 + O95969:p.Val80Ala chr5 147241242 147241245 VAR_036185 + Q96PL1:p.Lys33Asn chr17 45599777 45599780 VAR_010402 + Q16586:p.Pro30Leu chr17 45599780 45599783 VAR_010403 + Q16586:p.Leu31Pro chr17 45599789 45599792 VAR_010404 + Q16586:p.Arg34Cys chr17 45599789 45599792 VAR_010405 + Q16586:p.Arg34His chr17 45599967 45599970 VAR_010406 + Q16586:p.Tyr62His chr17 45599985 45599988 VAR_010407 + Q16586:p.Gly68Glu chr17 45600003 45600006 VAR_010408 + Q16586:p.Arg74Trp chr17 45600012 45600015 VAR_010387 + Q16586:p.Arg77Cys chr17 45600048 45600051 VAR_010409 + Q16586:p.Leu89Pro chr17 45600054 45600057 VAR_010410 + Q16586:p.Gly91Arg chr17 45600060 45600063 VAR_010411 + Q16586:p.Ala93Val chr17 45600072 45600075 VAR_010412 + Q16586:p.Asp97Gly chr17 45600075 45600078 VAR_010413 + Q16586:p.Arg98Cys chr17 45600075 45600078 VAR_010388 + Q16586:p.Arg98His chr17 45600090 45600093 VAR_010414 + Q16586:p.Ile103Thr chr17 45600363 45600366 VAR_010415 + Q16586:p.Ile124Thr chr17 45600753 45600756 VAR_037965 + Q16586:p.Ala136Ala chr17 45600756 45600759 VAR_037966 + Q16586:p.Glu137Gly chr17 45600756 45600759 VAR_010416 + Q16586:p.Glu137Lys chr17 45600819 45600822 VAR_010417 + Q16586:p.Leu158Phe chr17 45600864 45600867 VAR_010431 + Q16586:p.Leu173Pro chr17 45600870 45600873 VAR_010389 + Q16586:p.Val175Ala chr17 45601452 45601455 VAR_010418 + Q16586:p.Val196Ile chr17 45601479 45601482 VAR_010419 + Q16586:p.Pro205His chr17 45601548 45601551 VAR_010432 + Q16586:p.Pro228Gln chr17 45601590 45601593 VAR_010420 + Q16586:p.Val242Ala chr17 45601605 45601608 VAR_010433 + Q16586:p.Val247Met chr17 45602604 45602607 VAR_010390 + Q16586:p.Arg284Cys chr4 52745320 52745323 VAR_010421 - Q16585:p.Gln11Glu chr4 52736927 52736930 VAR_010422 - Q16585:p.Arg91Cys chr4 52736927 52736930 VAR_010391 - Q16585:p.Arg91Leu chr4 52736927 52736930 VAR_010392 - Q16585:p.Arg91Pro chr4 52736900 52736903 VAR_010393 - Q16585:p.Met100Lys chr4 52736876 52736879 VAR_010394 - Q16585:p.Leu108Arg chr4 52736858 52736861 VAR_010423 - Q16585:p.Ser114Phe chr4 52736843 52736846 VAR_010424 - Q16585:p.Ile119Phe chr4 52736783 52736786 VAR_010425 - Q16585:p.Gly139Asp chr4 52735991 52735994 VAR_010395 - Q16585:p.Thr151Arg chr4 52735943 52735946 VAR_010426 - Q16585:p.Gly167Ser chr4 52735898 52735901 VAR_010427 - Q16585:p.Thr182Ala chr4 52735892 52735895 VAR_010428 - Q16585:p.Tyr184Cys chr13 22706758 22706761 VAR_010430 + Q13326:p.Gly69Asp chr13 22706758 22706761 VAR_012202 + Q13326:p.Gly69Arg chr13 22722816 22722819 VAR_010397 + Q13326:p.Arg116His chr13 22796650 22796653 VAR_010398 + Q13326:p.Cys283Tyr chr1 66821297 66821300 VAR_027297 + Q9BQI5:p.Glu112Gln chr1 66821354 66821357 VAR_027298 + Q9BQI5:p.Lys131Arg chr1 66845242 66845245 VAR_027299 + Q9BQI5:p.Pro161Gln chr1 66897089 66897092 VAR_027300 + Q9BQI5:p.Lys575Glu chr8 67888661 67888664 VAR_035636 + Q96BR1:p.Ala92Val chr9 133284881 133284884 VAR_041371 + Q8NE28:p.Gly139Asp chr9 133297637 133297640 VAR_025611 + Q8NE28:p.Lys473Glu chr9 133298695 133298698 VAR_025612 + Q8NE28:p.Arg568Gln chr2 201223228 201223231 VAR_024784 + Q562F6:p.Gly9Asp chr2 201262060 201262063 VAR_024785 + Q562F6:p.Ile496Val chr17 2211733 2211736 VAR_031795 + O43147:p.Leu63Met chr17 2213547 2213550 VAR_031796 + O43147:p.Arg238Lys chr17 2213565 2213568 VAR_031797 + O43147:p.Arg244Ser chr17 2214691 2214694 VAR_031798 + O43147:p.His329Arg chr17 2215059 2215062 VAR_031799 + O43147:p.Arg374Gln chr17 2229216 2229219 VAR_031800 + O43147:p.Asp968Val chr10 74582125 74582128 VAR_012191 - O95905:p.Arg281Gly chrX 123206120 123206123 VAR_005612 + O60880:p.Arg32Thr chrX 123225170 123225173 VAR_018307 + O60880:p.Arg55Leu chrX 123229560 123229563 VAR_005613 + O60880:p.Thr68Ile chrX 123229659 123229662 VAR_005614 + O60880:p.Pro101Leu chr1 153598053 153598056 VAR_024349 - Q9NP31:p.Asn52Ser chr19 6711971 6711974 VAR_026054 - Q9BRG2:p.Asn32Asp chr19 6706027 6706030 VAR_035989 - Q9BRG2:p.Glu265Gly chr8 19263044 19263047 VAR_026055 + Q9H788:p.Glu216Gly chr8 19265942 19265945 VAR_026056 + Q9H788:p.Gly263Ala chr12 110347327 110347330 VAR_024168 + Q9UQQ2:p.Trp262Arg chr2 235731875 235731878 VAR_030330 + Q9P0V3:p.Met155Thr chr2 235732001 235732004 VAR_030331 + Q9P0V3:p.Ala197Thr chrX 19366569 19366572 VAR_015667 - Q96B97:p.Pro382Leu chr5 145422325 145422328 VAR_029790 + Q8TEC5:p.Val687Ile chr19 55897575 55897578 VAR_036541 - Q9Y566:p.Ala569Asp chr19 55862516 55862519 VAR_022123 - Q9Y566:p.Val1504Ala chr19 55857441 55857444 VAR_036542 - Q9Y566:p.Gly2026Arg chr17 7474278 7474281 VAR_022002 + P04278:p.Arg22His chr17 7474287 7474290 VAR_013946 + P04278:p.Arg25His chr17 7475401 7475404 VAR_016182 + P04278:p.Pro185Leu chr17 7477251 7477254 VAR_013129 + P04278:p.Asp356Asn chr19 4234058 4234061 VAR_027043 + Q96IW2:p.Gly138Ser chr19 4239330 4239333 VAR_027044 + Q96IW2:p.Asn270Ser chr7 155095876 155095882 VAR_023805 - Q15465:p.106_107del chr7 155095663 155095672 VAR_023808 - Q15465:p.176_178del chr7 155095390 155095411 VAR_009171 - Q15465:p.263_269del chrX 565468 565471 VAR_019414 + O15266:p.Leu132Val chrX 565531 565534 VAR_019415 + O15266:p.Arg153Leu chrX 571570 571573 VAR_019416 + O15266:p.Arg168Trp chrX 571585 571588 VAR_012346 + O15266:p.Arg173Cys chr20 1824108 1824114 VAR_015462 + P78324:p.Pro6_Ala7delinsArgSer chr20 1824150 1824153 VAR_015463 + P78324:p.Ala20Pro chr20 1843782 1843785 VAR_015464 + P78324:p.Asp40Glu chr20 1843845 1843848 VAR_015472 + P78324:p.Ile61Asn chr20 1843866 1843869 VAR_015473 + P78324:p.Trp68Arg chr20 1843893 1843896 VAR_015475 + P78324:p.Glu77Lys chr20 1843905 1843908 VAR_015477 + P78324:p.Asn81His chr20 1844037 1844040 VAR_015485 + P78324:p.Arg125Gln chr20 1850981 1850984 VAR_015498 + P78324:p.Gln260Leu chr5 132189191 132189194 VAR_032061 - Q2M3G4:p.Pro180Leu chrX 9715054 9715057 VAR_036577 + Q13796:p.Asp1245His chrX 9724680 9724683 VAR_024250 + Q13796:p.Leu1607Phe chr14 71208973 71208976 VAR_035549 + O43166:p.Glu996Asp chr19 43347288 43347291 VAR_025476 + O60292:p.Gly1371Ser chr19 43365137 43365140 VAR_025477 + O60292:p.Pro1450Ala chr17 72137279 72137282 VAR_021514 - Q9NSC7:p.Val80Ala chr18 53172721 53172724 VAR_020249 + O43173:p.Lys91Thr chr5 100250172 100250175 VAR_036169 - Q92187:p.Glu92Gly chr9 97902687 97902690 VAR_013308 + Q9NR45:p.Glu68Asp chr11 116568197 116568200 VAR_034493 + Q8NBJ9:p.Thr631Met chr11 116568212 116568215 VAR_034494 + Q8NBJ9:p.Val636Ile chr19 56611759 56611762 VAR_019955 - Q96LC7:p.Ala226Val chr19 56609944 56609947 VAR_019956 - Q96LC7:p.Arg520Ser chr19 56696556 56696559 VAR_014259 - Q96PQ1:p.Pro81Thr chr19 56695142 56695145 VAR_024501 - Q96PQ1:p.His217Gln chr19 56692482 56692485 VAR_020088 - Q96PQ1:p.Thr478Met chr19 56692434 56692437 VAR_020089 - Q96PQ1:p.Tyr494Ser chr18 41673000 41673003 VAR_033174 + Q6ZMC9:p.Phe273Leu chr19 56825102 56825105 VAR_014249 - O15389:p.Val72Ala chr19 56824477 56824480 VAR_014250 - O15389:p.Met215Val chr19 56822929 56822932 VAR_014251 - O15389:p.Phe322Ser chr19 56807454 56807457 VAR_020087 - O15389:p.Pro499Ala chr19 56726481 56726484 VAR_014252 - O43699:p.Leu46Val chr19 56339683 56339686 VAR_035523 + Q9Y286:p.Leu215Pro chr19 56652749 56652752 VAR_021487 - Q9NYZ4:p.Ser170Pro chr19 56320340 56320343 VAR_014254 + Q9Y336:p.Lys100Glu chr19 56320415 56320418 VAR_014255 + Q9Y336:p.Ser125Asn chr19 56320433 56320436 VAR_033621 + Q9Y336:p.Lys131Gln chr19 56320682 56320685 VAR_014256 + Q9Y336:p.Asn147Lys chr19 56322292 56322295 VAR_014257 + Q9Y336:p.Ala315Glu chr19 56322295 56322298 VAR_014258 + Q9Y336:p.Ala316Asp chr19 56323046 56323049 VAR_033622 + Q9Y336:p.Val349Ala chr6 100975497 100975500 VAR_034496 - P81133:p.Pro352Thr chr6 100975440 100975443 VAR_034497 - P81133:p.Ala371Val chr21 37039177 37039180 VAR_024281 + Q14190:p.Leu483Met chr20 1548521 1548524 VAR_028789 - O00241:p.Arg23Gly chr20 1507257 1507260 VAR_028790 - O00241:p.Arg53His chr10 69314491 69314494 VAR_025148 + Q96EB6:p.Asp3Glu chr6 13709155 13709158 VAR_029042 + Q9NXA8:p.Phe285Leu chr19 4131834 4131837 VAR_017154 - Q8N6T7:p.Ser46Asn chr14 60185330 60185333 VAR_031024 - Q15475:p.Arg110Trp chr14 60185273 60185276 VAR_031025 - Q15475:p.Tyr129Cys chr14 60185261 60185264 VAR_031026 - Q15475:p.133del chr2 45081098 45081101 VAR_038418 + O95343:p.Gly69Asp chr2 45081167 45081170 VAR_023797 + O95343:p.Val92Gly chr2 45081206 45081209 VAR_023798 + O95343:p.Ile105Val chr2 45081410 45081413 VAR_023799 + O95343:p.His173Pro chr2 45081497 45081500 VAR_023800 + O95343:p.Thr202Ile chr2 45081569 45081572 VAR_003771 + O95343:p.Leu226Val chr2 45081584 45081587 VAR_023801 + O95343:p.Pro231Arg chr2 45081641 45081644 VAR_003772 + O95343:p.Val250Ala chr2 45081662 45081665 VAR_003773 + O95343:p.Arg257Pro chr2 45081662 45081665 VAR_023802 + O95343:p.Arg257Trp chr19 50963468 50963471 VAR_032941 - Q8N196:p.Ala158Thr chr19 50962168 50962171 VAR_032942 - Q8N196:p.Ala296Thr chr19 50961961 50961964 VAR_032943 - Q8N196:p.Gly365Arg chr19 50961162 50961165 VAR_032944 - Q8N196:p.Thr552Met chr19 50961150 50961153 VAR_032945 - Q8N196:p.Leu556Val chr19 50960913 50960916 VAR_032946 - Q8N196:p.Pro635Ser chr19 50960739 50960742 VAR_032947 - Q8N196:p.Val693Met chr14 60046289 60046292 VAR_031631 + O95475:p.His141Asn chr14 60046361 60046364 VAR_026241 + O95475:p.Thr165Ala chr18 46162553 46162556 VAR_030091 + Q96BD8:p.Val91Ile chr17 43612514 43612517 VAR_035343 - Q86WV1:p.Ser242Gly chr7 26538833 26538836 VAR_029812 - O75563:p.Ala202Ser chr7 26538323 26538326 VAR_029813 - O75563:p.Ser253Thr chr17 1347997 1348000 VAR_036497 - Q9BT40:p.Ser315Phe chr5 36188873 36188876 VAR_016984 + Q13309:p.Pro85Leu chr5 36188879 36188882 VAR_016985 + Q13309:p.Leu87Ile chr2 102740217 102740220 VAR_035964 + Q9UBY0:p.Thr299Ser chr2 102783442 102783445 VAR_035965 + Q9UBY0:p.Arg806Gln chr3 144468412 144468415 VAR_022114 - Q8IVB4:p.Ile589Val chr1 157429775 157429778 VAR_021924 - Q13291:p.Phe11Leu chr1 157420225 157420228 VAR_035524 - Q13291:p.Leu81Phe chr1 157393619 157393622 VAR_021925 - Q13291:p.Pro333Thr chr1 156736304 156736307 VAR_032812 - Q96A28:p.Val86Met chr1 156735296 156735299 VAR_032813 - Q96A28:p.Asp164His chr1 156735245 156735248 VAR_032814 - Q96A28:p.Glu181Lys chr17 30616702 30616705 VAR_031445 + Q08AF3:p.Pro787Leu chr17 30616732 30616735 VAR_031446 + Q08AF3:p.Ala797Val chr20 35316109 35316112 VAR_024328 - P01286:p.Leu75Phe chr13 83351987 83351990 VAR_027755 - Q96PX8:p.Leu552Met chrX 144611289 144611292 VAR_027756 + Q9H156:p.Ser601Pro chrX 142443826 142443829 VAR_036602 - Q8IW52:p.Val206Ile chr13 85268569 85268572 VAR_027758 - Q9H5Y7:p.Leu25Phe chr13 85267699 85267702 VAR_027759 - Q9H5Y7:p.Pro315Arg chr13 85267402 85267405 VAR_027760 - Q9H5Y7:p.Gln414Arg chr4 20217405 20217408 VAR_018098 + O94813:p.Ser636Pro chr4 20288040 20288043 VAR_018099 + O94813:p.Ser1277Phe chr5 168133927 168133930 VAR_021905 - O75094:p.Arg395Gln chr5 168112656 168112659 VAR_024265 - O75094:p.Gly618Ser chr5 168055974 168055977 VAR_020168 - O75094:p.Glu994Gly chr17 30714576 30714579 VAR_031492 - Q7Z7L1:p.Val121Phe chr17 30703727 30703730 VAR_031494 - Q7Z7L1:p.Tyr822Cys chr17 30796800 30796803 VAR_031449 - Q68D06:p.Asn4Ser chr17 30796662 30796665 VAR_031450 - Q68D06:p.Ala50Thr chr17 30792464 30792467 VAR_031451 - Q68D06:p.Glu652Lys chr5 159773555 159773558 VAR_032598 - O95391:p.Ile111Val chr8 143820760 143820763 VAR_032871 - P55000:p.Trp15Arg chr8 143819661 143819664 VAR_032872 - P55000:p.Arg71His chr8 143819643 143819646 VAR_032873 - P55000:p.Cys77Arg chr8 143819616 143819619 VAR_032874 - P55000:p.Gly86Arg chr8 143819577 143819580 VAR_032875 - P55000:p.Cys99Tyr chr18 43649732 43649735 VAR_011375 - Q15796:p.Arg133Cys chr18 43628940 43628943 VAR_036473 - Q15796:p.Asp300Val chr18 43626092 43626137 VAR_011376 - Q15796:p.344_358del chr18 43622279 43622282 VAR_011377 - Q15796:p.Leu440Arg chr18 43622264 43622267 VAR_011378 - Q15796:p.Pro445His chr18 43622249 43622252 VAR_011379 - Q15796:p.Asp450Glu chr15 65269826 65269829 VAR_036474 + P84022:p.Pro393Leu chr18 46829191 46829194 VAR_036475 + Q13485:p.Pro130Ser chr18 46845822 46845825 VAR_022833 + Q13485:p.Glu330Gly chr18 46845885 46845888 VAR_036476 + Q13485:p.Asp351Asn chr18 46845888 46845891 VAR_019571 + Q13485:p.Gly352Arg chr18 46845915 46845918 VAR_019572 + Q13485:p.Arg361Cys chr18 46845915 46845918 VAR_036477 + Q13485:p.Arg361His chr18 46847402 46847405 VAR_019573 + Q13485:p.Gly386Asp chr18 46858652 46858655 VAR_011380 + Q13485:p.Asp493His chr2 217104996 217104999 VAR_038370 + Q9NZC9:p.Ala22Gly chr2 217105059 217105062 VAR_021363 + Q9NZC9:p.Ala43Thr chr2 217105272 217105275 VAR_021364 + Q9NZC9:p.Arg114His chr2 217105548 217105551 VAR_021365 + Q9NZC9:p.Tyr206Asp chr2 217105551 217105554 VAR_021366 + Q9NZC9:p.Ile207Phe chr2 217110607 217110610 VAR_021367 + Q9NZC9:p.Ser315Arg chr2 217113893 217113896 VAR_021368 + Q9NZC9:p.Glu377Gln chr2 217118946 217118949 VAR_021369 + Q9NZC9:p.Asp424Val chr2 217118970 217118973 VAR_036026 + Q9NZC9:p.Leu432Val chr2 217123013 217123016 VAR_021370 + Q9NZC9:p.Ala468Pro chr2 217125722 217125725 VAR_021371 + Q9NZC9:p.Ile548Asn chr2 217137270 217137273 VAR_021372 + Q9NZC9:p.Ser579Leu chr2 217137291 217137294 VAR_021373 + Q9NZC9:p.Arg586Trp chr2 217141152 217141155 VAR_021374 + Q9NZC9:p.Arg644Trp chr2 217141155 217141158 VAR_021375 + Q9NZC9:p.Arg645Cys chr2 217141161 217141164 VAR_021376 + Q9NZC9:p.Lys647Gln chr2 217141161 217141164 VAR_021377 + Q9NZC9:p.Lys647Thr chr2 217141167 217141170 VAR_021378 + Q9NZC9:p.Asp649Asn chr2 217154867 217154870 VAR_021379 + Q9NZC9:p.Thr705Ile chr2 217158254 217158257 VAR_021380 + Q9NZC9:p.Thr742Met chr2 217165542 217165545 VAR_021381 + Q9NZC9:p.Arg764Gln chr2 217167367 217167370 VAR_021382 + Q9NZC9:p.Arg820His chr11 68435509 68435512 VAR_022321 + P38935:p.Leu192Pro chr11 68435572 68435575 VAR_022322 + P38935:p.His213Arg chr11 68435596 68435599 VAR_022323 + P38935:p.Thr221Ala chr11 68438875 68438878 VAR_022324 + P38935:p.Cys241Arg chr11 68441866 68441869 VAR_022325 + P38935:p.Glu334Lys chr11 68453246 68453249 VAR_022326 + P38935:p.Leu361Pro chr11 68453255 68453258 VAR_022327 + P38935:p.Leu364Pro chr11 68453309 68453312 VAR_022328 + P38935:p.Glu382Lys chr11 68457382 68457385 VAR_022329 + P38935:p.Leu426Pro chr11 68458509 68458512 VAR_022330 + P38935:p.Glu514Lys chr11 68459402 68459405 VAR_022331 + P38935:p.Asp565Asn chr11 68459423 68459426 VAR_022332 + P38935:p.572del chr11 68459438 68459441 VAR_022333 + P38935:p.Leu577Pro chr11 68459447 68459450 VAR_022334 + P38935:p.Val580Ile chr11 68459456 68459459 VAR_022335 + P38935:p.Asn583Ile chr11 68459465 68459466 VAR_022336 + P38935:p.Gly586Cys chr11 68460280 68460282 VAR_022336 + P38935:p.Gly586Cys chr11 68460330 68460333 VAR_022337 + P38935:p.Arg603His chr11 68460432 68460435 VAR_022338 + P38935:p.Arg637Cys chr11 68460534 68460537 VAR_020147 + P38935:p.Thr671Ala chr11 68460603 68460606 VAR_021899 + P38935:p.Arg694Trp chr11 68462248 68462251 VAR_022339 + P38935:p.Thr879Lys chr11 68462395 68462398 VAR_021900 + P38935:p.Glu928Lys chr11 68463712 68463715 VAR_022340 + P38935:p.Asp974Glu chrX 53319079 53319082 VAR_026529 - Q14683:p.Glu493Ala chrX 53309597 53309600 VAR_026530 - Q14683:p.832del chr10 112339700 112339703 VAR_032845 + Q9UQE7:p.491del chr9 70126987 70126990 VAR_029824 + Q8IY18:p.Val306Ile chr9 70126993 70126996 VAR_029825 + Q8IY18:p.Cys308Arg chr2 17823903 17823906 VAR_035875 - Q96SB8:p.Ala292Val chr2 17806120 17806123 VAR_029826 - Q96SB8:p.Ala691Thr chr2 17769337 17769340 VAR_029827 - Q96SB8:p.Ile1046Met chr22 38232440 38232443 VAR_037040 + Q9NQG6:p.Gly78Arg chr22 38232473 38232476 VAR_037041 + Q9NQG6:p.Thr89Met chr22 38232918 38232921 VAR_037042 + Q9NQG6:p.Arg169Trp chr22 38234225 38234228 VAR_037043 + Q9NQG6:p.Asp264Asn chrX 128348577 128348580 VAR_001242 - P28370:p.Gln656Arg chr19 10967975 10967978 VAR_028215 + P51532:p.Val561Glu chr19 10997121 10997124 VAR_028216 + P51532:p.Met1036Ile chr17 18108407 18108410 VAR_037038 + Q96C03:p.Gly324Glu chr17 18108497 18108500 VAR_037039 + Q96C03:p.Arg354Gln chr17 18161397 18161400 VAR_032309 + Q8TEV9:p.Pro524Leu chr17 18161493 18161496 VAR_032310 + Q8TEV9:p.Arg556His chr17 18161733 18161736 VAR_032311 + Q8TEV9:p.Asn636Ser chr8 32624913 32624916 VAR_020118 + Q15491:p.Gly46Arg chr1 153033489 153033492 VAR_030828 - Q9UPR3:p.Asn1004Asp chr5 69381271 69381274 VAR_005615 + Q16637:p.Ala2Gly chr5 69395003 69395006 VAR_034803 + Q16637:p.Asp30Asn chr5 69395045 69395048 VAR_034804 + Q16637:p.Asp44Val chr5 69398525 69398528 VAR_034805 + Q16637:p.Gly95Arg chr5 69398573 69398576 VAR_034806 + Q16637:p.Ala111Gly chr5 69398588 69398591 VAR_034807 + Q16637:p.Ile116Phe chr5 69398648 69398651 VAR_034808 + Q16637:p.Gln136Glu chr5 69402232 69402235 VAR_010051 + Q16637:p.Pro245Leu chr5 69402283 69402286 VAR_034809 + Q16637:p.Ser262Gly chr5 69402283 69402286 VAR_005616 + Q16637:p.Ser262Ile chr5 69402313 69402316 VAR_005617 + Q16637:p.Tyr272Cys chr5 69402319 69402322 VAR_005618 + Q16637:p.Thr274Ile chr5 69402322 69402325 VAR_005619 + Q16637:p.Gly275Ser chr5 69408103 69408106 VAR_007990 + Q16637:p.Gly279Cys chr5 69408103 69408106 VAR_005620 + Q16637:p.Gly279Val chr14 69488751 69488754 VAR_034498 + Q9H4F8:p.Val82Met chr20 4111143 4111146 VAR_036546 + Q9NWM0:p.Gln340Lys chr20 4115949 4115952 VAR_019531 + Q9NWM0:p.His522Tyr chr7 128443139 128443142 VAR_037891 + Q99835:p.Asp473His chr7 128444290 128444293 VAR_007848 + Q99835:p.Trp535Leu chr7 128444787 128444790 VAR_007849 + Q99835:p.Arg562Gln chr4 95504452 95504455 VAR_028037 + Q9H4L7:p.Ser66Phe chr4 95512316 95512319 VAR_028038 + Q9H4L7:p.Leu135Phe chr4 95512331 95512334 VAR_028039 + Q9H4L7:p.Arg140Cys chr4 95528009 95528012 VAR_028040 + Q9H4L7:p.Ser245Tyr chr4 95528015 95528018 VAR_028041 + Q9H4L7:p.Ser247Asn chr4 95531105 95531108 VAR_028043 + Q9H4L7:p.Pro351Gln chr4 95563292 95563295 VAR_028044 + Q9H4L7:p.Val972Ala chr7 150377283 150377286 VAR_020884 - Q6STE5:p.Pro170Ser chr3 188870748 188870751 VAR_034499 - P61278:p.Ala11Val chr3 188869722 188869725 VAR_034500 - P61278:p.Asn61Thr chr17 4442488 4442491 VAR_038498 + Q2TAL5:p.Ala162Thr chr12 52863946 52863949 VAR_023243 - Q53HV7:p.Gly15Val chr17 1633419 1633422 VAR_025628 - Q8IYR2:p.Arg562Trp chr21 43670441 43670444 VAR_041087 - P57059:p.Gly15Ser chr21 43666018 43666021 VAR_041088 - P57059:p.Asp142Asn chr21 43665432 43665435 VAR_041089 - P57059:p.Gly211Ser chr21 43663500 43663503 VAR_033910 - P57059:p.Arg430Trp chr21 43663383 43663386 VAR_041090 - P57059:p.Gly469Asp chr21 43661981 43661984 VAR_021255 - P57059:p.Ala615Val chr21 43661313 43661316 VAR_041091 - P57059:p.Pro696Leu chr21 43661226 43661229 VAR_041092 - P57059:p.Ala725Val chr18 10540118 10540121 VAR_020129 + Q99747:p.Lys281Asn chr20 48034036 48034039 VAR_019969 + O95863:p.Val118Ala chr8 49995275 49995278 VAR_009873 - O43623:p.Asp119Glu chr2 241731072 241731075 VAR_034847 + Q8TER0:p.Leu1228Pro chr2 241732717 241732720 VAR_034848 + Q8TER0:p.Arg1289Gln chr2 241732747 241732750 VAR_034849 + Q8TER0:p.His1299Arg chr2 241741731 241741734 VAR_034850 + Q8TER0:p.Ala1362Ser chr16 11677464 11677467 VAR_018842 + O75324:p.Val17Ile chr16 11677677 11677680 VAR_018843 + O75324:p.Gly88Ser chr19 7892637 7892640 VAR_011806 + Q13487:p.Leu118Val chr20 31461746 31461749 VAR_014075 - Q13424:p.Leu364Phe chr16 67875572 67875575 VAR_014076 + Q13425:p.Asp424Glu chr2 1158779 1158782 VAR_034501 + Q9NY99:p.Ser168Tyr chr2 1194794 1194797 VAR_034502 + Q9NY99:p.Ser200Leu chr2 1253810 1253813 VAR_034503 + Q9NY99:p.Ile391Val chr11 65491590 65491593 VAR_034504 + O43290:p.Ser463Ala chr11 65491748 65491751 VAR_025319 + O43290:p.Gly485Ala chr2 70035303 70035306 VAR_025363 + Q8WVK2:p.Thr81Ile chr2 70036230 70036233 VAR_025364 + Q8WVK2:p.Ser114Phe chr7 2084824 2084827 VAR_036259 - Q9Y5X2:p.Ala147Gly chr20 3634433 3634436 VAR_024502 - Q9BZZ2:p.Val221Met chr20 3632727 3632730 VAR_014136 - Q9BZZ2:p.Lys239Arg chr20 3623496 3623499 VAR_014137 - Q9BZZ2:p.His919Pro chr20 3623331 3623334 VAR_021926 - Q9BZZ2:p.Ala974Val chr20 3621192 3621195 VAR_021927 - Q9BZZ2:p.Ser1335Tyr chr20 3620020 3620023 VAR_014138 - Q9BZZ2:p.Ala1519Pro chr12 21378809 21378812 VAR_024644 - P46721:p.Ile13Thr chr12 21351140 21351143 VAR_020289 - P46721:p.Asn128Tyr chr12 21351119 21351122 VAR_020290 - P46721:p.Asn135Ile chr12 21348700 21348703 VAR_020291 - P46721:p.Glu172Asp chr12 21348655 21348658 VAR_036823 - P46721:p.Ala187Thr chr12 21345399 21345402 VAR_036409 - P46721:p.Val220Ile chr12 21341614 21341617 VAR_020292 - P46721:p.Ile355Val chr12 21313757 21313760 VAR_020293 - P46721:p.Thr668Ser chr12 21216982 21216985 VAR_015070 + Q9Y6L6:p.Phe73Leu chr12 21218794 21218797 VAR_015071 + Q9Y6L6:p.Val82Ala chr12 21221004 21221007 VAR_015072 + Q9Y6L6:p.Asn130Asp chr12 21221070 21221073 VAR_015073 + Q9Y6L6:p.Arg152Lys chr12 21221079 21221082 VAR_015074 + Q9Y6L6:p.Pro155Thr chr12 21221082 21221085 VAR_015075 + Q9Y6L6:p.Glu156Gly chr12 21222814 21222817 VAR_015076 + Q9Y6L6:p.Val174Ala chr12 21222871 21222874 VAR_015077 + Q9Y6L6:p.Leu193Arg chr12 21223214 21223217 VAR_015078 + Q9Y6L6:p.Asp241Asn chr12 21244794 21244797 VAR_015079 + Q9Y6L6:p.Ile353Thr chr12 21246849 21246852 VAR_015080 + Q9Y6L6:p.Asn432Asp chr12 21250120 21250123 VAR_015081 + Q9Y6L6:p.Asp462Gly chr12 21250198 21250201 VAR_015082 + Q9Y6L6:p.Gly488Ala chr12 21283276 21283279 VAR_015083 + Q9Y6L6:p.Asp655Gly chr12 21283312 21283315 VAR_015084 + Q9Y6L6:p.Glu667Gly chr12 20902746 20902749 VAR_024645 + Q9NPD5:p.Ser112Ala chr12 20919581 20919584 VAR_036410 + Q9NPD5:p.Ile292Met chr12 20960277 20960280 VAR_036411 + Q9NPD5:p.Met647Leu chr8 70907363 70907366 VAR_022041 - Q9H2Y9:p.Leu33Phe chr12 51783667 51783670 VAR_020373 + O75908:p.Glu14Gly chr12 51796198 51796201 VAR_020374 + O75908:p.Thr254Ile chr17 73866396 73866399 VAR_030033 - O14543:p.His125Tyr chr21 31953965 31953968 VAR_013518 + P00441:p.Ala5Ser chr21 31953965 31953968 VAR_007130 + P00441:p.Ala5Thr chr21 31953965 31953968 VAR_007131 + P00441:p.Ala5Val chr21 31953971 31953974 VAR_008717 + P00441:p.Cys7Phe chr21 31953974 31953977 VAR_007132 + P00441:p.Val8Glu chr21 31953977 31953980 VAR_013519 + P00441:p.Leu9Gln chr21 31953977 31953980 VAR_013520 + P00441:p.Leu9Val chr21 31953989 31953992 VAR_013521 + P00441:p.Gly13Arg chr21 31953995 31953998 VAR_013522 + P00441:p.Val15Gly chr21 31953995 31953998 VAR_007133 + P00441:p.Val15Met chr21 31954001 31954004 VAR_007134 + P00441:p.Gly17Ser chr21 31954016 31954019 VAR_013523 + P00441:p.Glu22Gly chr21 31954016 31954019 VAR_007135 + P00441:p.Glu22Lys chr21 31958012 31958015 VAR_007136 + P00441:p.Gly38Arg chr21 31958015 31958018 VAR_013524 + P00441:p.Leu39Arg chr21 31958015 31958018 VAR_007137 + P00441:p.Leu39Val chr21 31958024 31958027 VAR_007139 + P00441:p.Gly42Asp chr21 31958024 31958027 VAR_007138 + P00441:p.Gly42Ser chr21 31958030 31958033 VAR_007140 + P00441:p.His44Arg chr21 31958036 31958039 VAR_013525 + P00441:p.Phe46Cys chr21 31958039 31958042 VAR_007141 + P00441:p.His47Arg chr21 31958045 31958048 VAR_007142 + P00441:p.His49Gln chr21 31958048 31958051 VAR_013526 + P00441:p.Glu50Lys chr21 31960658 31960661 VAR_013527 + P00441:p.Asn66Ser chr21 31960664 31960667 VAR_013528 + P00441:p.Leu68Arg chr21 31960679 31960682 VAR_008718 + P00441:p.Gly73Ser chr21 31960691 31960694 VAR_013529 + P00441:p.Asp77Tyr chr21 31961442 31961445 VAR_016874 + P00441:p.His81Ala chr21 31961454 31961457 VAR_013530 + P00441:p.Leu85Phe chr21 31961454 31961457 VAR_007143 + P00441:p.Leu85Val chr21 31961457 31961460 VAR_007144 + P00441:p.Gly86Arg chr21 31961460 31961463 VAR_013531 + P00441:p.Asn87Ser chr21 31961469 31961472 VAR_013532 + P00441:p.Ala90Val chr21 31961472 31961475 VAR_007145 + P00441:p.Asp91Ala chr21 31961472 31961475 VAR_013533 + P00441:p.Asp91Val chr21 31961481 31961484 VAR_007146 + P00441:p.Gly94Ala chr21 31961481 31961484 VAR_007147 + P00441:p.Gly94Cys chr21 31961481 31961484 VAR_007148 + P00441:p.Gly94Asp chr21 31961481 31961484 VAR_007149 + P00441:p.Gly94Arg chr21 31961481 31961484 VAR_008719 + P00441:p.Gly94Val chr21 31961502 31961505 VAR_007150 + P00441:p.Glu101Gly chr21 31961502 31961505 VAR_013534 + P00441:p.Glu101Lys chr21 31961505 31961508 VAR_007151 + P00441:p.Asp102Gly chr21 31961505 31961508 VAR_007152 + P00441:p.Asp102Asn chr21 31961514 31961517 VAR_008720 + P00441:p.Ile105Phe chr21 31961517 31961520 VAR_013535 + P00441:p.Ser106Leu chr21 31961520 31961523 VAR_007153 + P00441:p.Leu107Val chr21 31961526 31961529 VAR_013536 + P00441:p.Gly109Val chr21 31961538 31961541 VAR_013537 + P00441:p.Ile113Met chr21 31961538 31961541 VAR_007154 + P00441:p.Ile113Thr chr21 31961541 31961544 VAR_007155 + P00441:p.Ile114Thr chr21 31961544 31961547 VAR_013538 + P00441:p.Gly115Ala chr21 31961547 31961550 VAR_007156 + P00441:p.Arg116Gly chr21 31961556 31961559 VAR_008721 + P00441:p.Val119Val chr21 31962669 31962672 VAR_008722 + P00441:p.Asp125Val chr21 31962672 31962675 VAR_007157 + P00441:p.Asp126His chr21 31962675 31962678 VAR_013539 + P00441:p.Leu127Ser chr21 31962696 31962699 VAR_008723 + P00441:p.134del chr21 31962699 31962702 VAR_007158 + P00441:p.Ser135Asn chr21 31962714 31962717 VAR_007159 + P00441:p.Asn140Lys chr21 31962729 31962732 VAR_007160 + P00441:p.Leu145Phe chr21 31962729 31962732 VAR_008724 + P00441:p.Leu145Ser chr21 31962732 31962735 VAR_008725 + P00441:p.Ala146Thr chr21 31962735 31962738 VAR_013540 + P00441:p.Cys147Arg chr21 31962741 31962744 VAR_007161 + P00441:p.Val149Gly chr21 31962741 31962744 VAR_007162 + P00441:p.Val149Ile chr21 31962744 31962747 VAR_007163 + P00441:p.Ile150Thr chr21 31962750 31962753 VAR_007164 + P00441:p.Ile152Thr chr4 24477583 24477586 VAR_020776 + P08294:p.Ala58Thr chr4 24477682 24477685 VAR_020777 + P08294:p.Ala91Thr chr4 24478102 24478105 VAR_014705 + P08294:p.Arg231Gly chr6 160084299 160084302 VAR_019363 - P04179:p.Ser10Ile chr6 160084131 160084134 VAR_019364 - P04179:p.Glu66Val chr6 160079665 160079668 VAR_007165 - P04179:p.Ile82Thr chr6 160076351 160076354 VAR_019365 - P04179:p.Arg156Trp chr14 20622895 20622898 VAR_038063 + Q8TER5:p.Met1312Thr chr17 59312141 59312144 VAR_014591 - P01242:p.Arg90Trp chr17 59349859 59349862 VAR_011917 - P01241:p.Thr3Ala chr17 59349560 59349563 VAR_015801 - P01241:p.Leu16Pro chr17 59349497 59349500 VAR_015802 - P01241:p.Asp37Asn chr17 59349482 59349485 VAR_015803 - P01241:p.Arg42Cys chr17 59349449 59349452 VAR_015804 - P01241:p.Thr53Ile chr17 59349198 59349201 VAR_015805 - P01241:p.Lys67Arg chr17 59349180 59349183 VAR_015806 - P01241:p.Asn73Asp chr17 59349162 59349165 VAR_032702 - P01241:p.Cys79Ser chr17 59349108 59349111 VAR_015807 - P01241:p.Ser97Phe chr17 59349007 59349010 VAR_015808 - P01241:p.Glu100Lys chr17 59348998 59349001 VAR_015809 - P01241:p.Arg103Cys chr17 59348992 59348995 VAR_011918 - P01241:p.Ser105Cys chr17 59348956 59348959 VAR_015810 - P01241:p.Gln117Leu chr17 59348905 59348908 VAR_015811 - P01241:p.Ser134Cys chr17 59348905 59348908 VAR_015812 - P01241:p.Ser134Arg chr17 59348899 59348902 VAR_011919 - P01241:p.Val136Ile chr17 59348893 59348896 VAR_015813 - P01241:p.Asp138Gly chr17 59348451 59348454 VAR_015814 - P01241:p.Thr201Ala chr17 59348439 59348442 VAR_032703 - P01241:p.Ile205Met chr17 59348427 59348430 VAR_015815 - P01241:p.Arg209His chr10 108579378 108579381 VAR_036374 - Q8WY21:p.Lys223Asn chr11 120845997 120846000 VAR_036371 + Q92673:p.Leu120Ser chr11 120898893 120898896 VAR_020360 + Q92673:p.Ala528Thr chr11 120981120 120981123 VAR_036372 + Q92673:p.Met1581Leu chr11 120997006 120997009 VAR_036373 + Q92673:p.Leu1972Val chr2 39197485 39197488 VAR_030423 - Q07889:p.Glu108Lys chr2 39190001 39190004 VAR_030424 - Q07889:p.Thr266Lys chr2 39189992 39189995 VAR_030425 - Q07889:p.Met269Arg chr2 39174229 39174232 VAR_030426 - Q07889:p.Asp309Tyr chr2 39174066 39174069 VAR_030427 - Q07889:p.Tyr337Cys chr2 39161923 39161926 VAR_030428 - Q07889:p.Trp432Arg chr2 39161920 39161923 VAR_030429 - Q07889:p.Glu433Lys chr2 39161917 39161920 VAR_030430 - Q07889:p.Gly434Arg chr2 39161896 39161899 VAR_030431 - Q07889:p.Cys441Tyr chr2 39161575 39161578 VAR_030432 - Q07889:p.Ser548Arg chr2 39161569 39161572 VAR_030433 - Q07889:p.Leu550Pro chr2 39161563 39161566 VAR_030434 - Q07889:p.Arg552Gly chr2 39161563 39161566 VAR_030435 - Q07889:p.Arg552Lys chr2 39161563 39161566 VAR_030436 - Q07889:p.Arg552Ser chr2 39152756 39152759 VAR_030437 - Q07889:p.Pro655Leu chr2 39152312 39152315 VAR_030438 - Q07889:p.Tyr702His chr2 39151120 39151123 VAR_030439 - Q07889:p.Trp729Leu chr2 39151108 39151111 VAR_030440 - Q07889:p.Ile733Phe chr2 39145957 39145960 VAR_030441 - Q07889:p.Glu846Lys chr2 39136077 39136080 VAR_030442 - Q07889:p.Gln977Arg chr2 39124657 39124660 VAR_030443 - Q07889:p.His1320Arg chr22 36703886 36703889 VAR_021386 - P56693:p.Ser135Thr chr22 36698587 36698590 VAR_003743 - P56693:p.Arg161Arg chr20 62151028 62151031 VAR_016210 - P35713:p.Trp95Arg chr20 62151001 62151004 VAR_016211 - P35713:p.Ala104Pro chr5 156985940 156985943 VAR_024485 - O94993:p.Val749Met chrX 139312616 139312619 VAR_026451 - P41225:p.Ala43Thr chrX 139312001 139312004 VAR_026452 - P41225:p.Ala248Ala chrX 139312001 139312004 VAR_033258 - P41225:p.Ala248Ala chr17 67629448 67629451 VAR_003735 + P48436:p.Pro108Leu chr17 67629460 67629463 VAR_003736 + P48436:p.Phe112Leu chr17 67629460 67629463 VAR_003737 + P48436:p.Phe112Ser chr17 67629481 67629484 VAR_003738 + P48436:p.Ala119Val chr17 67629553 67629556 VAR_003739 + P48436:p.Trp143Arg chr17 67630476 67630479 VAR_003740 + P48436:p.Arg152Pro chr17 67630482 67630485 VAR_008529 + P48436:p.Phe154Leu chr17 67630494 67630497 VAR_008530 + P48436:p.Ala158Thr chr17 67630515 67630518 VAR_008531 + P48436:p.His165Tyr chr17 67630530 67630533 VAR_003741 + P48436:p.Pro170Arg chr17 67631652 67631661 VAR_003742 + P48436:p.354_356del chr2 231159267 231159270 VAR_005621 + P23497:p.Met433Val chr2 231160299 231160302 VAR_005622 + P23497:p.Ser471Pro chr2 231205314 231205317 VAR_034510 + P23497:p.Glu699Gly chr2 230907123 230907126 VAR_036029 - Q9HB58:p.Met8Thr chr2 230903227 230903230 VAR_027170 - Q9HB58:p.Trp112Arg chr2 230903179 230903182 VAR_027171 - Q9HB58:p.Ala128Val chr2 230902615 230902618 VAR_027172 - Q9HB58:p.Ala206Val chr2 230902612 230902615 VAR_027173 - Q9HB58:p.Glu207Lys chr2 230902597 230902600 VAR_027174 - Q9HB58:p.Glu212Gly chr2 230901693 230901696 VAR_027175 - Q9HB58:p.Met249Val chr2 230900178 230900181 VAR_027176 - Q9HB58:p.Glu267Gly chr2 230891133 230891136 VAR_027178 - Q9HB58:p.Thr367Met chr2 230876218 230876221 VAR_027179 - Q9HB58:p.Leu425Ser chr2 230867779 230867782 VAR_027180 - Q9HB58:p.Met523Thr chr2 230862364 230862367 VAR_027181 - Q9HB58:p.Met579Ile chr2 230859365 230859368 VAR_036030 - Q9HB58:p.Gly683Ser chr12 52091141 52091144 VAR_019971 + P08047:p.Thr737Ala chr2 174646254 174646257 VAR_016123 - Q02447:p.Thr164Ala chr14 93978746 93978749 VAR_034511 - Q86U17:p.Thr406Ser chr20 31055759 31055762 VAR_015147 - Q8TC36:p.Glu16Lys chr20 31054346 31054349 VAR_026677 - Q8TC36:p.Glu39Asp chr20 31047097 31047100 VAR_026678 - Q8TC36:p.Ala174Thr chr10 22697456 22697459 VAR_035659 + O75602:p.Val106Leu chr10 22715861 22715864 VAR_024282 + O75602:p.Gln216Arg chr2 32200680 32200683 VAR_010194 + Q9UBP0:p.Ser44Leu chr2 32200683 32200686 VAR_027205 + Q9UBP0:p.Pro45Gln chr2 32226321 32226324 VAR_026758 + Q9UBP0:p.Leu195Val chr2 32252863 32252866 VAR_019448 + Q9UBP0:p.Ile344Lys chr2 32252872 32252875 VAR_027206 + Q9UBP0:p.Gln347Lys chr2 32252914 32252917 VAR_027207 + Q9UBP0:p.Pro361Leu chr2 32252917 32252920 VAR_010195 + Q9UBP0:p.Ser362Cys chr2 32263676 32263679 VAR_027208 + Q9UBP0:p.Gly370Arg chr2 32263700 32263703 VAR_019439 + Q9UBP0:p.Leu378Gln chr2 32263709 32263712 VAR_027209 + Q9UBP0:p.Phe381Cys chr2 32263724 32263727 VAR_027210 + Q9UBP0:p.Asn386Lys chr2 32263724 32263727 VAR_019440 + Q9UBP0:p.Asn386Ser chr2 32263730 32263733 VAR_027211 + Q9UBP0:p.Lys388Arg chr2 32263736 32263739 VAR_019441 + Q9UBP0:p.Met390Val chr2 32265148 32265151 VAR_027212 + Q9UBP0:p.Ser399Leu chr2 32265163 32265166 VAR_019449 + Q9UBP0:p.404del chr2 32265169 32265172 VAR_026759 + Q9UBP0:p.Ile406Val chr2 32265172 32265175 VAR_019450 + Q9UBP0:p.Ser407Arg chr2 32273303 32273306 VAR_035902 + Q9UBP0:p.Val423Leu chr2 32273306 32273309 VAR_010196 + Q9UBP0:p.Arg424Gly chr2 32273312 32273315 VAR_027213 + Q9UBP0:p.Leu426Val chr2 32273339 32273342 VAR_027214 + Q9UBP0:p.Pro435Leu chr2 32273342 32273345 VAR_027215 + Q9UBP0:p.Ser436Phe chr2 32273357 32273358 VAR_027216 + Q9UBP0:p.Asp441Gly chr2 32273596 32273598 VAR_027216 + Q9UBP0:p.Asp441Gly chr2 32273616 32273619 VAR_010197 + Q9UBP0:p.Cys448Tyr chr2 32273649 32273652 VAR_027217 + Q9UBP0:p.Arg459Gly chr2 32273652 32273655 VAR_027218 + Q9UBP0:p.Arg460Cys chr2 32273652 32273655 VAR_027219 + Q9UBP0:p.Arg460Leu chr2 32273682 32273685 VAR_027220 + Q9UBP0:p.Asp470Val chr2 32273867 32273870 VAR_027221 + Q9UBP0:p.Ala485Val chr2 32273879 32273882 VAR_027222 + Q9UBP0:p.Pro489Leu chr2 32273891 32273894 VAR_026760 + Q9UBP0:p.Asp493Gly chr2 32278624 32278627 VAR_010198 + Q9UBP0:p.Arg499Cys chr2 32278624 32278627 VAR_026761 + Q9UBP0:p.Arg499His chr2 32278636 32278639 VAR_019442 + Q9UBP0:p.Arg503Leu chr2 32278636 32278639 VAR_026762 + Q9UBP0:p.Arg503Trp chr2 32278663 32278666 VAR_027223 + Q9UBP0:p.Glu512Asp chr2 32280061 32280064 VAR_019443 + Q9UBP0:p.515del chr2 32280118 32280121 VAR_019444 + Q9UBP0:p.Leu534Pro chr2 32281690 32281693 VAR_019451 + Q9UBP0:p.Ala551Tyr chr2 32281702 32281705 VAR_027224 + Q9UBP0:p.Asp555Asn chr2 32281705 32281708 VAR_027225 + Q9UBP0:p.Ala556Val chr2 32281714 32281717 VAR_027226 + Q9UBP0:p.Gly559Asp chr2 32281723 32281726 VAR_027227 + Q9UBP0:p.Arg562Gly chr2 32281723 32281726 VAR_027228 + Q9UBP0:p.Arg562Gln chr2 32291114 32291117 VAR_010199 + Q9UBP0:p.Asp584His chr2 32291183 32291186 VAR_026763 + Q9UBP0:p.Trp607Cys chr2 32291204 32291207 VAR_019445 + Q9UBP0:p.Thr614Ile chr2 32291207 32291210 VAR_019452 + Q9UBP0:p.Thr615Ile chr1 48537372 48537375 VAR_030774 - Q9NWH7:p.Arg333Trp chr1 48476437 48476440 VAR_030775 - Q9NWH7:p.Cys478Tyr chr14 87932281 87932284 VAR_016912 + Q9P0W8:p.Val74Met chr18 59733844 59733847 VAR_024353 + P48595:p.Ile41Met chr18 59736238 59736241 VAR_024354 + P48595:p.Ile99Thr chr18 59738046 59738049 VAR_024355 + P48595:p.Pro140Ser chr18 59751363 59751366 VAR_022116 + P48595:p.Arg246Cys chr18 59383690 59383693 VAR_034513 + Q96P63:p.Lys227Glu chr18 59384870 59384873 VAR_034514 + Q96P63:p.Asn289Thr chr18 59415277 59415280 VAR_024356 + Q9UIV8:p.Gly293Ser chr18 59473990 59473993 VAR_024351 - P29508:p.Gly351Ala chr18 59473972 59473975 VAR_024352 - P29508:p.Thr357Ala chr18 59321761 59321764 VAR_022115 + P36952:p.Ile319Val chr18 59622501 59622504 VAR_034512 + O75635:p.Arg266Gln chr1 15655153 15655156 VAR_023485 - Q9BSE5:p.Gly105Arg chr17 20048830 20048833 VAR_028800 + Q5M775:p.Met293Leu chr1 11051014 11051017 VAR_011807 - P19623:p.Leu149Val chr15 67025323 67025326 VAR_031430 + Q6UW49:p.Leu133Phe chr1 114830254 114830257 VAR_035799 - O75934:p.Asn139Ser chr2 214552724 214552727 VAR_022366 + Q8N0X2:p.Gln361His chr2 214620247 214620250 VAR_022367 + Q8N0X2:p.Lys425Thr chr16 88140623 88140626 VAR_017433 + Q9UQ90:p.Thr503Ala chr16 88147827 88147830 VAR_017434 + Q9UQ90:p.Arg688Gln chr17 75805554 75805557 VAR_007388 - P51688:p.Tyr40Asn chr17 75805542 75805545 VAR_007389 - P51688:p.Ala44Thr chr17 75805476 75805479 VAR_007390 - P51688:p.Ser66Trp chr17 75805452 75805455 VAR_007391 - P51688:p.Arg74Cys chr17 75805452 75805455 VAR_007392 - P51688:p.Arg74His chr17 75805437 75805440 VAR_007393 - P51688:p.Thr79Pro chr17 75803526 75803532 VAR_007394 - P51688:p.84_85del chr17 75803526 75803529 VAR_007395 - P51688:p.Gln85Arg chr17 75803511 75803514 VAR_007396 - P51688:p.Gly90Arg chr17 75803148 75803151 VAR_007397 - P51688:p.Gly122Arg chr17 75803130 75803133 VAR_007398 - P51688:p.Pro128Leu chr17 75803121 75803124 VAR_007399 - P51688:p.Val131Met chr17 75803097 75803100 VAR_007400 - P51688:p.Thr139Met chr17 75803076 75803079 VAR_007401 - P51688:p.Leu146Pro chr17 75803064 75803067 VAR_007402 - P51688:p.Arg150Gln chr17 75802691 75802694 VAR_007403 - P51688:p.Asp179Asn chr17 75802682 75802685 VAR_007404 - P51688:p.Arg182Cys chr17 75802649 75802652 VAR_007405 - P51688:p.Phe193Leu chr17 75802610 75802613 VAR_007406 - P51688:p.Arg206Pro chr17 75802264 75802267 VAR_007407 - P51688:p.Val226Ala chr17 75802261 75802264 VAR_007408 - P51688:p.Pro227Arg chr17 75802240 75802243 VAR_007409 - P51688:p.Ala234Gly chr17 75802237 75802240 VAR_007410 - P51688:p.Asp235Val chr17 75802207 75802210 VAR_007411 - P51688:p.Arg245His chr17 75800519 75800522 VAR_007412 - P51688:p.Ser298Pro chr17 75799391 75799394 VAR_007413 - P51688:p.Thr321Ala chr17 75799292 75799295 VAR_007414 - P51688:p.Ala354Pro chr17 75799271 75799274 VAR_007415 - P51688:p.Val361Ile chr17 75799262 75799265 VAR_007416 - P51688:p.Ser364Arg chr17 75799247 75799250 VAR_007417 - P51688:p.Glu369Lys chr17 75799223 75799226 VAR_007418 - P51688:p.Arg377Cys chr17 75799223 75799226 VAR_007419 - P51688:p.Arg377His chr17 75799214 75799217 VAR_007420 - P51688:p.Gln380Arg chr17 75799196 75799199 VAR_007421 - P51688:p.Leu386Arg chr17 75799187 75799190 VAR_007422 - P51688:p.Asn389Lys chr17 75799013 75799016 VAR_007423 - P51688:p.Glu447Lys chr17 75798986 75798989 VAR_007424 - P51688:p.Arg456His chr3 168667578 168667581 VAR_024357 - O75830:p.Glu148Gly chr19 43474324 43474327 VAR_012482 + O43291:p.Val200Leu chr20 43786033 43786036 VAR_036795 + Q6UDR6:p.Gly73Ser chr17 4303123 4303126 VAR_035159 + Q6ZMD2:p.Ala330Ser chr17 4337917 4337920 VAR_035968 + Q6ZMD2:p.Ala507Thr chrX 139811244 139811247 VAR_021163 + Q9NS25:p.Val74Leu chrX 140061286 140061289 VAR_032024 - Q9NY87:p.Val59Phe chrX 140061286 140061289 VAR_034515 - Q9NY87:p.Val59Leu chr20 55338435 55338438 VAR_023307 + Q9Y5K1:p.Thr36Ala chr20 55343914 55343917 VAR_029246 + Q9Y5K1:p.Arg211Trp chr1 31933150 31933153 VAR_035660 - Q6ZMY3:p.Arg671Trp chr2 234741640 234741643 VAR_025698 + Q13103:p.Ser38Phe chr1 149817924 149817927 VAR_021099 + P22528:p.Thr11Ile chr1 149817960 149817963 VAR_002164 + P22528:p.Gln23His chr1 149818074 149818077 VAR_002165 + P22528:p.Val61Leu chr1 149818131 149818134 VAR_002166 + P22528:p.Ala80Pro chr1 149856271 149856274 VAR_034518 - P35325:p.Pro39Ser chr1 149789013 149789016 VAR_023377 + Q9UBC9:p.Leu149Val chr1 149757571 149757574 VAR_034517 + Q96PI1:p.Pro45Ser chr13 23721893 23721896 VAR_030776 + Q96N96:p.Arg20Trp chr3 174318073 174318076 VAR_038329 - Q9BXB7:p.Asn50Ser chr3 174317989 174317992 VAR_038330 - Q9BXB7:p.Glu78Lys chr3 174317953 174317956 VAR_038331 - Q9BXB7:p.Glu90Gly chr3 174317824 174317827 VAR_038332 - Q9BXB7:p.Met133Val chr3 174317782 174317785 VAR_038333 - Q9BXB7:p.Gly147Glu chr3 174124768 174124771 VAR_038336 - Q9BXB7:p.Val423Met chr3 174114212 174114215 VAR_038337 - Q9BXB7:p.Ala509Val chr3 174114161 174114164 VAR_038338 - Q9BXB7:p.Met526Thr chr3 174090079 174090082 VAR_038339 - Q9BXB7:p.Gln564Arg chr4 52779170 52779173 VAR_028828 + Q8TC71:p.Ser227Pro chr4 52789571 52789574 VAR_028829 + Q8TC71:p.Lys483Arg chr11 133219730 133219733 VAR_027697 - Q7Z5L4:p.Ala50Val chr17 3299186 3299189 VAR_027693 - Q8NHS9:p.Arg112Thr chr17 3299057 3299060 VAR_027695 - Q8NHS9:p.Gln155Arg chr9 128420009 128420012 VAR_038513 + Q13813:p.Asn385Ser chr9 128427729 128427732 VAR_035454 + Q13813:p.Ser904Cys chr9 128433351 128433354 VAR_035455 + Q13813:p.Pro1017Ser chr9 128447161 128447164 VAR_012227 + Q13813:p.Ile1300Thr chr9 128459509 128459512 VAR_035456 + Q13813:p.Arg1794Trp chr9 128463023 128463026 VAR_035457 + Q13813:p.Asp1918Asn chr14 64338265 64338268 VAR_001352 - P11277:p.Trp202Arg chr14 64330294 64330297 VAR_038514 - P11277:p.Ser613Ile chr14 64318904 64318907 VAR_001355 - P11277:p.His1374Arg chr14 64318817 64318820 VAR_001356 - P11277:p.Arg1403Gln chr14 64318802 64318805 VAR_038515 - P11277:p.Gly1408Arg chr14 64304298 64304301 VAR_001357 - P11277:p.Ala2018Gly chr14 64304295 64304298 VAR_001358 - P11277:p.Ser2019Pro chr14 64304283 64304286 VAR_001359 - P11277:p.Ala2023Val chr14 64304280 64304283 VAR_001360 - P11277:p.Trp2024Arg chr14 64304277 64304280 VAR_001361 - P11277:p.Leu2025Arg chr14 64304193 64304196 VAR_001362 - P11277:p.Ala2053Pro chr2 54783335 54783338 VAR_032641 + Q01082:p.Asp1411His chr9 91921880 91921883 VAR_011392 - O15269:p.Cys133Trp chr9 91921880 91921883 VAR_011393 - O15269:p.Cys133Tyr chr9 91909930 91909933 VAR_011394 - O15269:p.Val144Asp chr9 91909909 91909912 VAR_037889 - O15269:p.Arg151Leu chr9 91897304 91897307 VAR_036610 - O15269:p.Arg239Trp chr9 91880177 91880180 VAR_037890 - O15269:p.Gly387Ala chr15 42731248 42731251 VAR_032307 - Q96JI7:p.Tyr396Cys chr11 66237690 66237693 VAR_026767 - O15020:p.Leu253Pro chr11 66231583 66231622 VAR_026768 - O15020:p.532_544del chr11 66229420 66229438 VAR_026769 - O15020:p.Leu629_Arg634delinsTrp chr11 66229000 66229003 VAR_035458 - O15020:p.Glu774Lys chr11 66225043 66225046 VAR_026771 - O15020:p.Val1034Ala chr15 39955690 39955693 VAR_022050 - Q9NRC6:p.Arg1345His chr15 39955624 39955627 VAR_024395 - Q9NRC6:p.Arg1367Thr chr15 39936762 39936765 VAR_024396 - Q9NRC6:p.Gln2862Arg chr15 39933226 39933229 VAR_024397 - Q9NRC6:p.Ala3275Gly chr11 124456928 124456931 VAR_036794 + Q8TED4:p.Gly268Ser chrX 142529258 142529261 VAR_032025 - Q5MJ10:p.Thr8Ile chrX 142322460 142322463 VAR_032026 - Q5MJ09:p.Lys43Asn chrX 141847393 141847396 VAR_032027 + Q5MJ08:p.Lys48Asn chr13 79809523 79809526 VAR_024647 - O43597:p.Pro106Ser chrX 154567717 154567720 VAR_034519 + O43610:p.Ala161Thr chr2 241528302 241528305 VAR_000587 + P21549:p.Pro11Leu chr2 241528392 241528395 VAR_000588 + P21549:p.Gly41Arg chr2 241528392 241528395 VAR_010969 + P21549:p.Gly41Val chr2 241528654 241528657 VAR_008878 + P21549:p.Gly82Glu chr2 241528693 241528696 VAR_010970 + P21549:p.Glu95Glu chr2 241528756 241528759 VAR_010971 + P21549:p.Gly116Arg chr2 241530785 241530788 VAR_000589 + P21549:p.Phe152Ile chr2 241530797 241530800 VAR_010972 + P21549:p.Gly156Arg chr2 241530839 241530842 VAR_000590 + P21549:p.Gly170Arg chr2 241532407 241532410 VAR_010973 + P21549:p.Asp183Asn chr2 241532419 241532422 VAR_000591 + P21549:p.Ser187Phe chr2 241533401 241533404 VAR_000592 + P21549:p.Ser205Pro chr2 241534531 241534534 VAR_008879 + P21549:p.Arg233Cys chr2 241534531 241534534 VAR_008880 + P21549:p.Arg233His chr2 241534564 241534567 VAR_008881 + P21549:p.Ile244Thr chr2 241537503 241537506 VAR_000593 + P21549:p.Ile340Met chr15 43755725 43755728 VAR_014959 + Q9Y6N5:p.Ile264Thr chr5 179183510 179183513 VAR_023590 + Q13501:p.Ala117Val chr5 179192702 179192705 VAR_023591 + Q13501:p.Glu274Gln chr5 179193381 179193384 VAR_023592 + Q13501:p.Pro387Leu chr5 179196049 179196052 VAR_023593 + Q13501:p.Pro392Leu chr5 179196070 179196073 VAR_023594 + Q13501:p.Ser399Pro chr5 179196085 179196088 VAR_023595 + Q13501:p.Met404Thr chr5 179196085 179196088 VAR_023596 + Q13501:p.Met404Val chr5 179196106 179196109 VAR_023597 + Q13501:p.Gly411Ser chr5 179196148 179196151 VAR_023598 + Q13501:p.Gly425Arg chr6 158506284 158506287 VAR_030342 - Q96JX3:p.Ser543Thr chr22 40591488 40591491 VAR_036394 + Q12772:p.Ala273Ser chr22 40594472 40594475 VAR_036395 + Q12772:p.Asn347Lys chr22 40601240 40601243 VAR_028440 + Q12772:p.Gly595Ala chr22 40601324 40601327 VAR_028441 + Q12772:p.Val623Met chr19 54350177 54350180 VAR_021931 - P23327:p.Ser43Asn chr19 54350018 54350021 VAR_005623 - P23327:p.Ser96Ala chr19 54349694 54349697 VAR_011622 - P23327:p.204del chr11 17766297 17766300 VAR_017156 - Q9UGK8:p.Lys429Glu chr11 17766213 17766216 VAR_017157 - Q9UGK8:p.Gly457Glu chr3 9030470 9030473 VAR_035550 - O43295:p.Leu623Ile chr5 112224981 112224984 VAR_027800 + P09132:p.Ala4Thr chrX 99723367 99723370 VAR_030312 + O60687:p.Tyr72Ser chrX 99727972 99727975 VAR_030313 + O60687:p.Thr287Ser chrX 99728432 99728435 VAR_030314 + O60687:p.Asn327Ser chrX 37836193 37836196 VAR_005624 - P78539:p.23del chrX 37776502 37776505 VAR_005625 - P78539:p.Pro225Ser chrX 37765336 37765339 VAR_005626 - P78539:p.Ser413Phe chr1 24721869 24721872 VAR_024065 + Q8IYB3:p.Arg170His chrY 2698996 2698999 VAR_030019 - Q05066:p.Ser3Leu chrY 2698951 2698954 VAR_003717 - Q05066:p.Ser18Asn chrY 2698825 2698828 VAR_003718 - Q05066:p.Val60Ala chrY 2698825 2698828 VAR_003719 - Q05066:p.Val60Leu chrY 2698819 2698822 VAR_003720 - Q05066:p.Arg62Gly chrY 2698813 2698816 VAR_003721 - Q05066:p.Met64Ile chrY 2698813 2698816 VAR_017298 - Q05066:p.Met64Arg chrY 2698804 2698807 VAR_017299 - Q05066:p.Phe67Val chrY 2698801 2698804 VAR_003722 - Q05066:p.Ile68Thr chrY 2698777 2698780 VAR_017300 - Q05066:p.Arg76Ser chrY 2698771 2698774 VAR_003723 - Q05066:p.Met78Thr chrY 2698744 2698747 VAR_017301 - Q05066:p.Asn87Tyr chrY 2698735 2698738 VAR_003724 - Q05066:p.Ile90Met chrY 2698732 2698735 VAR_003725 - Q05066:p.Ser91Gly chrY 2698720 2698723 VAR_017302 - Q05066:p.Gly95Glu chrY 2698720 2698723 VAR_003726 - Q05066:p.Gly95Arg chrY 2698702 2698705 VAR_003727 - Q05066:p.Leu101His chrY 2698687 2698690 VAR_003728 - Q05066:p.Lys106Ile chrY 2698681 2698684 VAR_003729 - Q05066:p.Pro108Arg chrY 2698678 2698681 VAR_003730 - Q05066:p.Phe109Ser chrY 2698666 2698669 VAR_003731 - Q05066:p.Ala113Thr chrY 2698630 2698633 VAR_003732 - Q05066:p.Pro125Leu chrY 2698624 2698627 VAR_003733 - Q05066:p.Tyr127Cys chrY 2698624 2698627 VAR_017303 - Q05066:p.Tyr127Phe chrY 2698612 2698615 VAR_017304 - Q05066:p.Pro131Arg chrY 2698606 2698609 VAR_003734 - Q05066:p.Arg133Trp chr6 24603308 24603311 VAR_026227 + P51649:p.Gly36Arg chr6 24603479 24603482 VAR_026199 + P51649:p.Cys93Phe chr6 24611556 24611559 VAR_026200 + P51649:p.Gly176Arg chr6 24611568 24611571 VAR_016758 + P51649:p.His180Tyr chr6 24611574 24611577 VAR_016759 + P51649:p.Pro182Leu chr6 24613132 24613135 VAR_026201 + P51649:p.Cys223Tyr chr6 24613162 24613165 VAR_026202 + P51649:p.Thr233Met chr6 24613174 24613177 VAR_026228 + P51649:p.Ala237Ser chr6 24623409 24623412 VAR_026203 + P51649:p.Asn255Ser chr6 24623448 24623451 VAR_026204 + P51649:p.Gly268Glu chr6 24628739 24628742 VAR_026205 + P51649:p.Asn335Lys chr6 24631102 24631105 VAR_026206 + P51649:p.Pro382Leu chr6 24631102 24631105 VAR_026207 + P51649:p.Pro382Gln chr6 24636245 24636248 VAR_026229 + P51649:p.Val406Ile chr6 24636254 24636257 VAR_026208 + P51649:p.Gly409Asp chr6 24641769 24641772 VAR_026209 + P51649:p.Val487Glu chr6 24641907 24641910 VAR_026210 + P51649:p.Gly533Arg chr22 35928243 35928246 VAR_029219 - P32745:p.Ala33Val chr22 35927589 35927592 VAR_020072 - P32745:p.Ser251Phe chr22 35927334 35927337 VAR_029220 - P32745:p.Arg336Cys chr22 35927109 35927112 VAR_011853 - P32745:p.Ser411Thr chr22 35927100 35927103 VAR_029221 - P32745:p.Arg414His chr16 1068977 1068980 VAR_029222 + P35346:p.Gly37Arg chr16 1069010 1069013 VAR_029223 + P35346:p.Leu48Met chr16 1069022 1069025 VAR_029224 + P35346:p.Ala52Val chr16 1069181 1069184 VAR_033484 + P35346:p.Trp105Arg chr16 1069193 1069196 VAR_029225 + P35346:p.Pro109Ser chr16 1069619 1069622 VAR_033485 + P35346:p.Leu251Ser chr16 1069865 1069868 VAR_029226 + P35346:p.Thr333Met chr16 1069871 1069874 VAR_020073 + P35346:p.Pro335Leu chr16 1069883 1069886 VAR_033486 + P35346:p.Arg339Lys chr6 7255256 7255259 VAR_022427 - P43307:p.Leu28Ser chrX 47810991 47810994 VAR_027805 - O60225:p.Glu19Gln chr11 129565776 129565779 VAR_032847 + Q9Y5Y6:p.Met285Ile chr11 129571470 129571473 VAR_032848 + Q9Y5Y6:p.Arg381Ser chr11 129584838 129584841 VAR_032849 + Q9Y5Y6:p.Gly827Arg chr7 43408908 43408911 VAR_041145 + Q9UEE5:p.Glu126Asp chr7 43421173 43421176 VAR_041146 + Q9UEE5:p.Met167Thr chr7 43436662 43436665 VAR_032823 + Q9UEE5:p.Glu286Gln chr16 28527566 28527569 VAR_009302 - P50225:p.Arg37Gln chr16 28525818 28525821 VAR_028721 - P50225:p.Glu151Asp chr16 28525013 28525016 VAR_007425 - P50225:p.Arg213His chr16 28524947 28524950 VAR_014889 - P50225:p.Asn235Thr chr4 70780682 70780685 VAR_020886 - O43704:p.Leu145Val chr2 108379553 108379556 VAR_021986 + O00338:p.Tyr128His chr2 108380553 108380556 VAR_021987 + O00338:p.Ser255Ala chr2 108330587 108330590 VAR_033732 + Q6IMI6:p.Tyr148Cys chr2 108333715 108333718 VAR_033733 + Q6IMI6:p.Gly179Arg chr2 108333760 108333763 VAR_033734 + Q6IMI6:p.Met194Thr chr2 108453323 108453326 VAR_025404 + O75897:p.Asp5Glu chr4 70904056 70904059 VAR_018907 - P49888:p.Asp22Tyr chr19 53771088 53771091 VAR_020887 + O00204:p.Leu51Ser chr19 53791879 53791882 VAR_021988 + O00204:p.Val240Ile chr19 53794277 53794280 VAR_029285 + O00204:p.Met301Ile chr19 53794409 53794412 VAR_020888 + O00204:p.Pro345Leu chr4 5259753 5259756 VAR_041166 + Q9NY57:p.Gly35Glu chr4 5566500 5566503 VAR_025899 + Q9NY57:p.Arg198Gly chr4 5576668 5576671 VAR_041167 + Q9NY57:p.Arg244His chr4 5586519 5586522 VAR_041168 + Q9NY57:p.Asp310Val chr4 5586615 5586618 VAR_041169 + Q9NY57:p.Lys342Thr chr10 133886471 133886474 VAR_025900 - Q86UX6:p.Thr334Ala chr10 133886257 133886260 VAR_035637 - Q86UX6:p.Arg376His chr10 133871602 133871605 VAR_041170 - Q86UX6:p.Ala454Thr chr10 133871563 133871566 VAR_041171 - Q86UX6:p.Glu467Lys chr11 8708464 8708467 VAR_027101 - P78524:p.Lys316Asn chr11 8692814 8692817 VAR_027103 - P78524:p.Ile620Thr chr11 8692136 8692139 VAR_030642 - P78524:p.Ser657Phe chr11 8688997 8689000 VAR_027104 - P78524:p.Ser774Gly chr13 32602288 32602291 VAR_037494 - Q9Y3M8:p.Thr175Met chr13 32602063 32602066 VAR_022098 - Q9Y3M8:p.Lys250Arg chr13 32601664 32601667 VAR_037495 - Q9Y3M8:p.Arg383Pro chr13 32584955 32584958 VAR_037496 - Q9Y3M8:p.Asn798Ser chr17 37615730 37615733 VAR_018728 - P51692:p.Ala630Pro chr3 52533046 52533049 VAR_019078 + Q9NY15:p.Met2506Thr chr12 102550919 102550922 VAR_019541 + Q8WWQ8:p.Pro510His chr3 36520905 36520908 VAR_034505 + Q99469:p.Asn262Ser chr10 17777151 17777154 VAR_036348 + Q92783:p.Gly212Asp chr17 35067604 35067607 VAR_027877 + Q14849:p.Arg117Gln chr18 50109716 50109719 VAR_024651 - P59095:p.Glu159Lys chr2 96283031 96283034 VAR_020345 - Q9NQZ5:p.Arg65Pro chrX 67720578 67720581 VAR_036588 + Q92502:p.Gly188Ser chrX 67720740 67720743 VAR_036589 + Q92502:p.Glu242Lys chr2 191700145 191700148 VAR_034521 - P42224:p.Ile30Thr chr2 191672723 191672726 VAR_036001 - P42224:p.Pro491Ala chr2 191669160 191669163 VAR_018265 - P42224:p.Leu600Pro chr2 191666060 191666063 VAR_018266 - P42224:p.Leu706Ser chr12 55036269 55036272 VAR_014896 - P52630:p.Gln66His chr12 55034638 55034641 VAR_014897 - P52630:p.Leu220Pro chr12 55029309 55029312 VAR_014898 - P52630:p.Thr448Met chr12 55029261 55029264 VAR_014899 - P52630:p.Ile464Val chr12 55029047 55029050 VAR_014900 - P52630:p.Ser501Ile chr12 55026948 55026951 VAR_014901 - P52630:p.Met594Ile chr12 55023517 55023520 VAR_019213 - P52630:p.Gln826His chr17 37753964 37753967 VAR_018683 - P40763:p.Gln32Lys chr17 37744896 37744899 VAR_018679 - P40763:p.Met143Ile chr17 37735184 37735187 VAR_037365 - P40763:p.Arg382Leu chr17 37735184 37735187 VAR_037366 - P40763:p.Arg382Gln chr17 37735184 37735187 VAR_037367 - P40763:p.Arg382Trp chr17 37735178 37735181 VAR_037368 - P40763:p.Phe384Leu chr17 37735178 37735181 VAR_037369 - P40763:p.Phe384Ser chr17 37735163 37735166 VAR_037370 - P40763:p.Thr389Ile chr17 37734965 37734968 VAR_037371 - P40763:p.Arg423Gln chr17 37731713 37731716 VAR_037372 - P40763:p.His437Tyr chr17 37730581 37730584 VAR_037373 - P40763:p.463del chr17 37728868 37728871 VAR_037374 - P40763:p.Phe561Tyr chr17 37728602 37728605 VAR_037375 - P40763:p.Ser611Asn chr17 37728572 37728575 VAR_037376 - P40763:p.Phe621Val chr17 37728569 37728572 VAR_037377 - P40763:p.Thr622Ile chr17 37728015 37728018 VAR_037378 - P40763:p.Val637Leu chr17 37728015 37728018 VAR_037379 - P40763:p.Val637Met chr17 37727994 37727997 VAR_037380 - P40763:p.644del chr17 37727955 37727958 VAR_037381 - P40763:p.Tyr657Cys chr2 191766494 191766497 VAR_036002 - Q14765:p.Glu112Gln chr2 191766485 191766488 VAR_020190 - Q14765:p.Ile115Val chr12 55786377 55786380 VAR_013094 - P42226:p.Met181Arg chr7 87558010 87558013 VAR_031976 - Q687X5:p.Gly75Asp chr7 87557869 87557872 VAR_031977 - Q687X5:p.Ala122Thr chr9 124345129 124345132 VAR_039106 - Q13285:p.Cys33Ser chr9 124345050 124345053 VAR_004737 - Q13285:p.Gly35Glu chr9 124342540 124342543 VAR_039107 - Q13285:p.Arg84His chr9 124342516 124342519 VAR_016982 - Q13285:p.Arg92Gln chr9 124342354 124342357 VAR_039108 - Q13285:p.Gly146Ala chr9 124342027 124342030 VAR_016983 - Q13285:p.Arg255Leu chr17 41432500 41432503 VAR_019548 + Q8IWL8:p.Gln7Arg chr1 47479932 47479935 VAR_029870 - Q15468:p.Ala86Val chr1 47438105 47438108 VAR_029871 - Q15468:p.His984Arg chr1 47438021 47438024 VAR_029872 - Q15468:p.Pro1012Arg chr5 171465330 171465333 VAR_041131 - O94804:p.Arg268Cys chr5 171465303 171465306 VAR_023827 - O94804:p.Lys277Glu chr5 171456073 171456076 VAR_041132 - O94804:p.Arg322Trp chr5 171453566 171453569 VAR_041133 - O94804:p.Thr336Ile chr5 171453173 171453176 VAR_041134 - O94804:p.Asn467Ser chr5 171420829 171420832 VAR_041135 - O94804:p.Met710Thr chr5 171414270 171414273 VAR_041136 - O94804:p.Ser853Leu chr5 171412588 171412591 VAR_041137 - O94804:p.Ser905Thr chr5 171404556 171404559 VAR_041138 - O94804:p.Cys947Tyr chr19 1158056 1158059 VAR_033138 + Q15831:p.Tyr49Asp chr19 1158110 1158113 VAR_006202 + Q15831:p.Leu67Pro chr19 1158170 1158173 VAR_041139 + Q15831:p.Arg87Lys chr19 1170350 1170353 VAR_033139 + Q15831:p.Gly135Arg chr19 1171390 1171399 VAR_007920 + Q15831:p.Asp162_Leu164delinsAsnAspMet chr19 1171393 1171396 VAR_033140 + Q15831:p.Gly163Asp chr19 1171486 1171489 VAR_007921 + Q15831:p.Asp194Asn chr19 1171486 1171489 VAR_033141 + Q15831:p.Asp194Tyr chr19 1171696 1171699 VAR_033142 + Q15831:p.Trp239Cys chr19 1172215 1172218 VAR_006203 + Q15831:p.247del chr19 1172973 1172976 VAR_007922 + Q15831:p.Arg297Lys chr19 1172991 1173003 VAR_033143 + Q15831:p.Ile303_His306delinsAsn chr19 1174005 1174008 VAR_033144 + Q15831:p.Pro315Ser chr2 219364148 219364151 VAR_041177 + Q9NRP7:p.Ile90Met chr2 219369428 219369431 VAR_041178 + Q9NRP7:p.Arg240Trp chr2 219369891 219369894 VAR_041179 + Q9NRP7:p.Lys295Arg chr2 219370156 219370159 VAR_041180 + Q9NRP7:p.Asp329Asn chr2 219378927 219378930 VAR_041181 + Q9NRP7:p.Leu462Val chr2 219378930 219378933 VAR_025727 + Q9NRP7:p.Lys463Asn chr2 219378969 219378972 VAR_041182 + Q9NRP7:p.Phe476Ser chr2 219378972 219378975 VAR_041183 + Q9NRP7:p.Arg477Trp chr2 219380765 219380768 VAR_041184 + Q9NRP7:p.Arg583Gln chr2 219382872 219382875 VAR_041185 + Q9NRP7:p.Ser660Cys chr2 219382908 219382911 VAR_041186 + Q9NRP7:p.Leu672Pro chr2 219384173 219384176 VAR_025728 + Q9NRP7:p.Ser767Thr chr2 219384173 219384176 VAR_041187 + Q9NRP7:p.Ser767Tyr chr2 219384797 219384800 VAR_041188 + Q9NRP7:p.Thr816Ala chr2 219386757 219386760 VAR_041189 + Q9NRP7:p.Arg839Gln chr2 219386760 219386763 VAR_041190 + Q9NRP7:p.Leu840Val chr2 219388178 219388181 VAR_025729 + Q9NRP7:p.Gly1003Asp chr2 219389102 219389105 VAR_041191 + Q9NRP7:p.Tyr1111Cys chr2 219389105 219389108 VAR_041192 + Q9NRP7:p.Arg1112Gln chr2 219389183 219389186 VAR_041193 + Q9NRP7:p.Gln1138Lys chr2 219389324 219389327 VAR_041194 + Q9NRP7:p.Pro1185Ser chr2 219392225 219392228 VAR_041195 + Q9NRP7:p.His1313Pro chr20 43049309 43049312 VAR_041123 + Q13043:p.His162Asn chr20 43062542 43062545 VAR_041124 + Q13043:p.Arg310Gln chr20 43062548 43062551 VAR_027040 + Q13043:p.Val312Met chr20 43063323 43063326 VAR_041125 + Q13043:p.Ile355Thr chr20 43087125 43087128 VAR_041126 + Q13043:p.Pro416Leu chr20 54396627 54396630 VAR_030840 - O14965:p.Gly11Arg chr20 54394945 54394948 VAR_030841 - O14965:p.Phe31Ile chr20 54394888 54394891 VAR_041127 - O14965:p.Pro50Leu chr20 54391548 54391551 VAR_041128 - O14965:p.Ser155Arg chr20 54391491 54391494 VAR_041129 - O14965:p.Val174Met chr20 54378713 54378716 VAR_041130 - O14965:p.Met373Val chr9 35091763 35091766 VAR_026830 - Q9UJZ1:p.Leu129Pro chr2 48719801 48719804 VAR_020183 + Q9Y6Q2:p.Arg127Thr chr2 48721052 48721055 VAR_020184 + Q9Y6Q2:p.Gln544His chr2 48721241 48721244 VAR_020185 + Q9Y6Q2:p.Gln607His chr14 80814486 80814489 VAR_020182 - Q8WXE9:p.Ser307Pro chr14 80806826 80806829 VAR_021912 - Q8WXE9:p.Ser851Ala chr10 70257437 70257440 VAR_023784 + Q6ZVD7:p.Arg18Pro chr10 70311865 70311868 VAR_023785 + Q6ZVD7:p.Tyr153His chr10 70315379 70315382 VAR_023786 + Q6ZVD7:p.Glu608Asp chr10 70316030 70316033 VAR_023787 + Q6ZVD7:p.Asn825Ile chr15 72275537 72275540 VAR_037168 - Q9BX79:p.Pro90Leu chr15 72270281 72270284 VAR_037169 - Q9BX79:p.Pro293Leu chr15 72268635 72268638 VAR_037170 - Q9BX79:p.Thr321Pro chr15 72268581 72268584 VAR_037171 - Q9BX79:p.Gly339Ser chr15 72260821 72260824 VAR_037172 - Q9BX79:p.Leu517Phe chr15 72260791 72260794 VAR_037173 - Q9BX79:p.Met527Ile chr15 72259545 72259548 VAR_037174 - Q9BX79:p.Thr644Met chr15 72259512 72259515 VAR_037175 - Q9BX79:p.Arg655Cys chr8 126142613 126142616 VAR_031955 - Q12768:p.Asn471Asp chr8 126138997 126139000 VAR_031956 - Q12768:p.Leu619Phe chr8 126138238 126138241 VAR_031957 - Q12768:p.Val626Phe chrX 7082884 7082887 VAR_007240 + P08842:p.Ser341Leu chrX 7103132 7103135 VAR_007241 + P08842:p.Trp372Arg chrX 7103132 7103135 VAR_014020 + P08842:p.Trp372Ser chrX 7103156 7103159 VAR_014021 + P08842:p.Gly380Arg chrX 7111835 7111838 VAR_014022 + P08842:p.His444Arg chrX 7111841 7111844 VAR_007242 + P08842:p.Cys446Tyr chrX 7127963 7127966 VAR_014023 + P08842:p.Gln560Pro chr6 144549547 144549550 VAR_011995 + O75558:p.Glu31Gln chr6 144549601 144549604 VAR_029769 + O75558:p.Arg49Gln chr6 144550066 144550069 VAR_011996 + O75558:p.Leu204His chr6 144550285 144550288 VAR_029770 + O75558:p.Thr277Ala chr1 27804258 27804261 VAR_035643 + Q86Y82:p.Pro88Arg chr12 129831192 129831195 VAR_014850 - P32856:p.Ser42Thr chr11 59312953 59312956 VAR_028189 + Q13277:p.Glu83Asp chr11 62351667 62351670 VAR_035642 - Q13190:p.Gln79His chr13 47445465 47445468 VAR_013459 - Q9P2R7:p.Ser199Thr chr10 104253941 104253944 VAR_021566 + Q9UMX1:p.Pro15Leu chr10 104349286 104349289 VAR_021567 + Q9UMX1:p.Ala340Ser chr3 166276457 166276460 VAR_025367 - P14410:p.Val15Phe chr3 166269589 166269592 VAR_025368 - P14410:p.Gln117Arg chr3 166260514 166260517 VAR_025370 - P14410:p.Leu341Pro chr3 166247486 166247489 VAR_025371 - P14410:p.Val577Gly chr3 166247435 166247438 VAR_025372 - P14410:p.Ser594Pro chr3 166247357 166247360 VAR_025373 - P14410:p.Leu620Pro chr3 166241506 166241509 VAR_025374 - P14410:p.Thr694Pro chr3 166221753 166221756 VAR_025375 - P14410:p.Gly1073Asp chr3 166220220 166220223 VAR_007854 - P14410:p.Gln1098Pro chr3 166218109 166218112 VAR_025376 - P14410:p.Cys1229Tyr chr3 166209846 166209849 VAR_025377 - P14410:p.Arg1367Gly chr3 166183503 166183506 VAR_025379 - P14410:p.Phe1745Cys chr3 166182741 166182744 VAR_034522 - P14410:p.Thr1802Ser chr20 45728622 45728625 VAR_036494 - Q8IWU5:p.Tyr531His chr20 45728496 45728499 VAR_036495 - Q8IWU5:p.Asp573Asn chr3 4483869 4483872 VAR_019050 - Q8NBK3:p.Leu20Phe chr3 4483740 4483743 VAR_016052 - Q8NBK3:p.Ser63Asn chr3 4466003 4466006 VAR_016053 - Q8NBK3:p.Ser155Pro chr3 4436818 4436821 VAR_019051 - Q8NBK3:p.Ala177Pro chr3 4436812 4436815 VAR_042602 - Q8NBK3:p.Trp179Ser chr3 4434764 4434767 VAR_016054 - Q8NBK3:p.Cys218Tyr chr3 4434746 4434749 VAR_019052 - Q8NBK3:p.Arg224Trp chr3 4433874 4433877 VAR_019053 - Q8NBK3:p.Asn259Ile chr3 4433853 4433856 VAR_019054 - Q8NBK3:p.Pro266Leu chr3 4433814 4433817 VAR_016055 - Q8NBK3:p.Ala279Val chr3 4393019 4393022 VAR_016056 - Q8NBK3:p.Cys336Arg chr3 4378917 4378920 VAR_016057 - Q8NBK3:p.Arg345Cys chr3 4378908 4378911 VAR_016058 - Q8NBK3:p.Ala348Pro chr3 4378905 4378908 VAR_016059 - Q8NBK3:p.Arg349Gln chr3 4378905 4378908 VAR_016060 - Q8NBK3:p.Arg349Trp chr7 47820112 47820115 VAR_037458 - Q8TAQ9:p.Ile127Val chr7 47818851 47818854 VAR_037459 - Q8TAQ9:p.Leu177Val chr9 133251123 133251126 VAR_036340 - Q15526:p.Asn89Lys chr9 133250300 133250303 VAR_007450 - Q15526:p.Gly124Glu chr9 133250300 133250303 VAR_015258 - Q15526:p.Gly124Arg chr9 133248999 133249002 VAR_007451 - Q15526:p.Asp202His chr9 133248867 133248870 VAR_007452 - Q15526:p.Ile246Thr chr9 133248480 133248483 VAR_015259 - Q15526:p.Tyr274Asp chr9 133229054 133229057 VAR_014532 - O75683:p.Arg163Trp chr9 133229018 133229021 VAR_014533 - O75683:p.Thr175Met chr9 133228411 133228414 VAR_014534 - O75683:p.Thr311Met chr9 111920553 111920556 VAR_027743 - Q6UWL2:p.His524Gln chr22 22903676 22903679 VAR_027416 + Q9UGT4:p.Arg59Gln chr22 22904056 22904059 VAR_027417 + Q9UGT4:p.Ser110Thr chr22 22906593 22906596 VAR_027418 + Q9UGT4:p.Asn466Ser chr9 92919810 92919813 VAR_027744 + Q96L08:p.Lys136Glu chr9 92919822 92919825 VAR_035663 + Q96L08:p.Ser140Thr chr3 33230557 33230560 VAR_030217 - O60279:p.Leu52Phe chr3 33170443 33170446 VAR_030218 - O60279:p.Arg228Lys chr3 33169957 33169960 VAR_030219 - O60279:p.Glu390Asp chr10 70610140 70610143 VAR_037076 + Q8IYB8:p.Pro30Thr chr10 29810554 29810557 VAR_024691 - O95425:p.Ser1688Pro chr4 68757301 68757304 VAR_038691 - Q58G82:p.Thr97Met chr16 68861158 68861161 VAR_028204 - P49588:p.Gly275Asp chr6 44382986 44382989 VAR_027609 - Q5JTZ9:p.Ile339Val chr6 44380895 44380898 VAR_027610 - Q5JTZ9:p.Ala484Asp chr10 135259519 135259522 VAR_029385 - Q8N0S2:p.Glu132Asp chr10 135258411 135258414 VAR_029386 - Q8N0S2:p.Lys183Arg chr10 135257481 135257484 VAR_029387 - Q8N0S2:p.Pro317Ala chr13 110094828 110094831 VAR_034523 - Q9HA77:p.Glu440Lys chr13 110091914 110091917 VAR_034524 - Q9HA77:p.Gln555Pro chr19 44386401 44386404 VAR_033284 - Q0VAF6:p.Leu111Met chr20 57903982 57903985 VAR_014115 - Q9BX26:p.Pro523Leu chr2 136502747 136502750 VAR_027611 - P14868:p.Leu426Phe chr1 170526051 170526054 VAR_027612 + Q6PI48:p.Leu10Val chr1 170527486 170527489 VAR_037015 + Q6PI48:p.Ser45Gly chr1 170532386 170532389 VAR_037016 + Q6PI48:p.Cys152Phe chr1 170534212 170534215 VAR_037017 + Q6PI48:p.Arg179His chr1 170534227 170534230 VAR_037018 + Q6PI48:p.Gln184Lys chr1 170534263 170534266 VAR_034525 + Q6PI48:p.Lys196Arg chr1 170537812 170537815 VAR_037019 + Q6PI48:p.Gln248Lys chr1 170539000 170539003 VAR_037020 + Q6PI48:p.Arg263Gln chr1 170557463 170557466 VAR_037021 + Q6PI48:p.Asp560Val chr1 170558398 170558401 VAR_037022 + Q6PI48:p.Leu613Phe chr1 170558437 170558440 VAR_037023 + Q6PI48:p.Leu626Gln chr1 170558437 170558440 VAR_037024 + Q6PI48:p.Leu626Val chr1 170558446 170558449 VAR_037025 + Q6PI48:p.Tyr629Cys chr16 23444182 23444185 VAR_028840 - Q5JPH6:p.Ser457Gly chr19 7598272 7598275 VAR_016248 - Q9HCS7:p.Val126Ile chr19 7593656 7593659 VAR_016249 - Q9HCS7:p.Arg454Gln chr19 7591320 7591323 VAR_016250 - Q9HCS7:p.Ala702Thr chr7 30412850 30412853 VAR_018718 + P41250:p.Glu125Gly chr7 30414033 30414036 VAR_018719 + P41250:p.Leu183Pro chr7 30422584 30422586 VAR_018720 + P41250:p.Gly294Arg chr7 30424951 30424952 VAR_018720 + P41250:p.Gly294Arg chr7 30441453 30441456 VAR_018721 + P41250:p.Gly580Arg chr1 216676134 216676137 VAR_034526 + Q9NSE4:p.Ile522Val chr16 74219302 74219305 VAR_016105 - Q15046:p.Thr595Ser chr12 56194848 56194851 VAR_020459 + P56192:p.Ala683Asp chr6 152766906 152766909 VAR_036250 - Q8NF91:p.Val3671Met chr6 152747420 152747423 VAR_036251 - Q8NF91:p.Glu4210Asp chr6 152747381 152747384 VAR_036252 - Q8NF91:p.Arg4223His chr6 152731380 152731383 VAR_036253 - Q8NF91:p.Leu5507Arg chr6 152553252 152553255 VAR_036254 - Q8NF91:p.Arg8468His chr14 63445640 63445643 VAR_027947 + Q8WXH0:p.Pro8Ser chr14 63517527 63517530 VAR_027948 + Q8WXH0:p.Ile574Thr chr14 63567678 63567681 VAR_027949 + Q8WXH0:p.Asn2358Ser chr14 63567786 63567789 VAR_027950 + Q8WXH0:p.Ala2394Thr chr14 63588784 63588787 VAR_027951 + Q8WXH0:p.Gly2801Ser chr14 63725125 63725128 VAR_036255 + Q8WXH0:p.Val5940Ile chr14 63746469 63746472 VAR_036256 + Q8WXH0:p.Tyr6200Cys chr14 94976072 94976075 VAR_031231 - Q6ZMZ3:p.Thr668Met chr14 94969445 94969448 VAR_031232 - Q6ZMZ3:p.Arg864His chr14 94954074 94954077 VAR_031233 - Q6ZMZ3:p.Ala923Val chr14 94954005 94954008 VAR_031234 - Q6ZMZ3:p.Ile946Val chr4 120309249 120309252 VAR_019670 + Q9UMS6:p.Thr573Ala chr1 54936150 54936153 VAR_034527 - Q7L3T8:p.Asn235Ser chr5 167846087 167846090 VAR_020106 + P54136:p.Val3Ile chr5 167865734 167865737 VAR_020107 + P54136:p.Phe397Tyr chr6 88295983 88295986 VAR_037800 - Q5T160:p.Lys291Arg chr6 88287942 88287945 VAR_037801 - Q5T160:p.Ile331Val chr6 88286627 88286630 VAR_037802 - Q5T160:p.Asp367Gly chr12 33426660 33426663 VAR_034529 - Q6XYQ8:p.Thr420Ser chr12 33424069 33424072 VAR_034530 - Q6XYQ8:p.His488Pro chr12 33421088 33421091 VAR_034531 - Q6XYQ8:p.Ala505Val chr11 66564136 66564139 VAR_034532 + Q8IV01:p.Asn170His chr14 61532880 61532883 VAR_028931 + Q17RD7:p.Arg131Leu chr19 55820613 55820616 VAR_036389 - Q9BQG1:p.Ser474Phe chr19 60379223 60379226 VAR_034528 - O00445:p.Arg111Gln chr11 7395930 7395933 VAR_036390 + Q86SS6:p.Asp445Asn chr5 33481189 33481192 VAR_034533 + P26639:p.Gly21Asp chr6 159148753 159148756 VAR_037137 + Q4VX76:p.Pro414Ser chr6 159154844 159154847 VAR_037138 + Q4VX76:p.Val540Ile chrX 37705048 37705051 VAR_024601 + Q8TDW5:p.Ile275Val chr4 91113906 91113909 VAR_007957 - P37840:p.Ala30Pro chr4 91106496 91106499 VAR_022703 - P37840:p.Glu46Lys chr4 91106475 91106478 VAR_007454 - P37840:p.Ala53Thr chr14 99871015 99871018 VAR_036466 - P23381:p.Glu455Asp chr1 119331212 119331215 VAR_028848 - Q9UGM6:p.Gly50Ser chr1 119287857 119287860 VAR_020217 - Q9UGM6:p.Ala267Pro chr1 32945685 32945688 VAR_026681 - P54577:p.Gly41Arg chr1 32941217 32941229 VAR_026682 - P54577:p.153_156del chr1 32941175 32941178 VAR_026683 - P54577:p.Gln170His chr1 32932459 32932462 VAR_026684 - P54577:p.Glu196Lys chr12 32799502 32799505 VAR_034534 - Q9Y2Z4:p.Gly191Val chr7 12042655 12042658 VAR_026849 + Q9NUM4:p.Thr185Ser chr12 46646249 46646252 VAR_026868 + Q9BVX2:p.Ser175Phe chr11 33035264 33035267 VAR_037726 + Q9NUJ3:p.His109Gln chr11 33036154 33036157 VAR_037727 + Q9NUJ3:p.Lys178Arg chr12 105207440 105207443 VAR_037728 + Q8N4U5:p.Ala41Thr chr12 105210688 105210691 VAR_037729 + Q8N4U5:p.Ala82Ser chr12 105231891 105231894 VAR_037730 + Q8N4U5:p.Asp261Asn chr11 60459977 60459980 VAR_032262 + Q24JP5:p.Arg699His chr11 60460787 60460790 VAR_032263 + Q24JP5:p.Ala969Val chr7 149938376 149938379 VAR_031032 + Q96HP8:p.Thr122Ala chr7 149939100 149939103 VAR_031033 + Q96HP8:p.Leu187Phe chr7 149939163 149939166 VAR_031034 + Q96HP8:p.Thr208Ala chr7 149931140 149931143 VAR_031035 - Q3YBM2:p.Pro55Ser chr7 149928801 149928804 VAR_031036 - Q3YBM2:p.Thr70Ala chr7 149928021 149928024 VAR_031038 - Q3YBM2:p.Ala134Thr chr7 149927883 149927886 VAR_031039 - Q3YBM2:p.Arg180Trp chr1 199708277 199708280 VAR_023205 + Q8IXX5:p.Arg10Met chr1 199709465 199709468 VAR_023206 + Q8IXX5:p.Ala80Thr chrX 148387764 148387767 VAR_033922 - Q8NFB2:p.Met179Val chrX 148386947 148386950 VAR_033923 - Q8NFB2:p.Cys243Ser chr7 99709433 99709436 VAR_036284 - Q9Y3Q8:p.Val329Met chr3 121982782 121982785 VAR_020321 + P29083:p.Pro366Ser chr12 10952717 10952720 VAR_036432 - Q9NYV9:p.Asn149Ser chr12 10952387 10952390 VAR_021853 - Q9NYV9:p.Asn259Ser chr7 122229123 122229126 VAR_034539 - Q9NYV7:p.Asn172Lys chr7 122228973 122228976 VAR_020205 - Q9NYV7:p.Arg222His chr7 141126526 141126529 VAR_017860 - P59533:p.Ala49Pro chr7 141125887 141125890 VAR_017861 - P59533:p.Ala262Val chr7 141125785 141125788 VAR_017862 - P59533:p.Ile296Val chr1 206339154 206339157 VAR_024283 + Q9Y228:p.Gln373Glu chr1 206343816 206343819 VAR_035664 + Q9Y228:p.Pro529Ser chr2 228069408 228069411 VAR_027673 - Q53R12:p.Ala27Val chr5 9682811 9682814 VAR_020198 - Q9NYW7:p.Arg111His chr5 9682526 9682529 VAR_020199 - Q9NYW7:p.Arg206Trp chr7 140931478 140931481 VAR_034535 + Q9NYW5:p.Arg3Gln chr7 140931490 140931493 VAR_034536 + Q9NYW5:p.Phe7Ser chr7 140931691 140931694 VAR_020200 + Q9NYW5:p.Thr74Met chr7 140931757 140931760 VAR_020201 + Q9NYW5:p.Val96Leu chr7 140931982 140931985 VAR_020202 + Q9NYW5:p.Ser171Asn chr7 140943420 140943423 VAR_020203 + Q9NYW4:p.Ser26Ile chr7 140943681 140943684 VAR_034537 + Q9NYW4:p.Pro113Leu chr7 140943843 140943846 VAR_034538 + Q9NYW4:p.Tyr167Cys chr7 140943981 140943984 VAR_024184 + Q9NYW4:p.Arg213Gln chr12 10845647 10845650 VAR_021852 - Q9NYW3:p.Thr263Ser chr12 10845524 10845527 VAR_024185 - Q9NYW3:p.Met304Ile chr12 10849922 10849925 VAR_024186 - Q9NYW2:p.Met308Val chr12 10853380 10853383 VAR_020204 - Q9NYW1:p.Val187Ala chr6 132933261 132933264 VAR_019794 + Q96RI8:p.Ile37Thr chr6 132933645 132933648 VAR_019795 + Q96RI8:p.Gly165Ser chr6 132933669 132933672 VAR_019796 + Q96RI8:p.Tyr173Cys chr6 132933834 132933837 VAR_019797 + Q96RI8:p.Ala228Val chr6 132933945 132933948 VAR_019798 + Q96RI8:p.Val265Ile chr6 132934023 132934026 VAR_019799 + Q96RI8:p.Cys291Tyr chr6 132934128 132934131 VAR_019800 + Q96RI8:p.Val326Ile chr10 123834396 123834399 VAR_036381 + O95359:p.Leu798Val chr10 123836043 123836046 VAR_036382 + O95359:p.Ala1347Ser chr10 123960161 123960164 VAR_029803 + O95359:p.Ile2078Thr chr10 123960233 123960236 VAR_020478 + O95359:p.Asn2102Ser chr10 123960518 123960521 VAR_020479 + O95359:p.Val2197Ala chr10 123960557 123960560 VAR_029804 + O95359:p.Ala2210Val chr10 123960710 123960713 VAR_020480 + O95359:p.Leu2261His chr10 123986923 123986926 VAR_020481 + O95359:p.Val2718Ile chr10 123986965 123986968 VAR_020482 + O95359:p.Ala2732Thr chr10 123999085 123999088 VAR_029805 + O95359:p.Gln2900Lys chr3 112769064 112769067 VAR_021928 + P40200:p.Ala142Pro chr1 163561178 163561181 VAR_038352 - Q96BN2:p.Arg198Gln chr11 6589581 6589584 VAR_013706 - Q12962:p.Ile92Thr chr6 34958802 34958805 VAR_016333 - Q15544:p.Thr68Arg chr2 9934283 9934286 VAR_029378 + Q53T94:p.Ala6Ser chr2 9995621 9995624 VAR_029379 + Q53T94:p.Val282Ile chr2 10001557 10001560 VAR_029380 + Q53T94:p.Thr351Ala chr2 10010365 10010368 VAR_029381 + Q53T94:p.Glu462Asp chr2 10010440 10010443 VAR_029382 + Q53T94:p.Thr487Met chr16 82772974 82772977 VAR_023245 - Q15572:p.Ser304Phe chr16 82772733 82772736 VAR_023246 - Q15572:p.Arg357His chr16 82772515 82772518 VAR_023247 - Q15572:p.Ser387Leu chr16 82771283 82771286 VAR_023248 - Q15572:p.His518Tyr chr16 82770938 82770941 VAR_023249 - Q15572:p.Pro573Leu chr16 82770932 82770935 VAR_023250 - Q15572:p.Leu575Met chr16 82770884 82770887 VAR_023251 - Q15572:p.Ala591Gly chr16 82770752 82770755 VAR_023252 - Q15572:p.Gly635Ser chr16 82770284 82770287 VAR_023253 - Q15572:p.Thr791Met chr16 82770278 82770281 VAR_023254 - Q15572:p.Pro793Leu chr16 82770209 82770212 VAR_023255 - Q15572:p.Arg816His chrX 70380566 70380569 VAR_020678 + P21675:p.Leu269Val chrX 70380650 70380653 VAR_041930 + P21675:p.Ala297Gly chrX 70381901 70381902 VAR_041931 + P21675:p.Gly453Asp chrX 70384613 70384615 VAR_041931 + P21675:p.Gly453Asp chrX 70386838 70386841 VAR_041932 + P21675:p.Glu651Lys chrX 70386958 70386961 VAR_041933 + P21675:p.Met691Ile chr8 120913961 120913964 VAR_027854 - Q6P1X5:p.Pro8Leu chr8 120872816 120872819 VAR_027855 - Q6P1X5:p.Ser447Thr chr8 120813578 120813581 VAR_027856 - Q6P1X5:p.Ser1122Asn chr8 120813527 120813530 VAR_027857 - Q6P1X5:p.Thr1139Ala chr10 8047270 8047273 VAR_026980 + Q5VWG9:p.Val598Leu chr10 105118123 105118126 VAR_018462 + Q15542:p.Ser130Ala chrX 100354076 100354079 VAR_036695 - Q5H9L4:p.Leu34Pro chrX 100353995 100353998 VAR_036696 - Q5H9L4:p.Glu61Lys chrX 100338763 100338766 VAR_036697 - Q5H9L4:p.Ser308Gly chrX 100337557 100337563 VAR_036698 - Q5H9L4:p.350_351del chrX 100330340 100330343 VAR_036699 - Q5H9L4:p.Arg458His chr5 140679261 140679264 VAR_005629 - Q15545:p.Ser178Arg chr5 68697302 68697305 VAR_016279 - Q16594:p.Thr6Met chr14 77020874 77020877 VAR_035365 - Q6H9L7:p.Ala94Thr chr14 77020646 77020649 VAR_035366 - Q6H9L7:p.Pro133Ala chr10 64085189 64085192 VAR_024326 + Q70YC4:p.Thr62Ala chr11 753392 753395 VAR_011511 + P37837:p.171del chr12 117156032 117156035 VAR_041205 - Q9H2K8:p.Pro20Thr chr12 117145469 117145472 VAR_023691 - Q9H2K8:p.Ser47Asn chr12 117099593 117099596 VAR_041206 - Q9H2K8:p.Ser392Tyr chr12 117060841 117060844 VAR_041207 - Q9H2K8:p.Cys727Tyr chr6 32924747 32924750 VAR_013153 - Q03518:p.Val518Ile chr6 32913820 32913823 VAR_036873 - Q03519:p.Arg56Lys chr6 32908402 32908405 VAR_014997 - Q03519:p.Ala374Thr chr6 32908387 32908390 VAR_000094 - Q03519:p.Val379Ile chr6 32906432 32906435 VAR_014998 - Q03519:p.Val467Ile chr6 32906117 32906120 VAR_014999 - Q03519:p.Ala513Ser chr6 32905784 32905787 VAR_000095 - Q03519:p.Ala565Thr chr6 32905748 32905751 VAR_015000 - Q03519:p.Met577Val chr6 32904768 32904771 VAR_000096 - Q03519:p.Arg651Cys chr6 32904726 32904729 VAR_000097 - Q03519:p.Thr665Ala chr6 32904663 32904666 VAR_000098 - Q03519:p.Leu686Leu chr22 36446117 36446120 VAR_025719 + Q9H2D6:p.Gly1019Arg chr1 230920921 230920924 VAR_030101 - Q13395:p.Leu221Pro chr1 230908162 230908165 VAR_030102 - Q13395:p.Ala425Thr chr1 230889383 230889386 VAR_030103 - Q13395:p.Ser678Gly chr1 230879758 230879761 VAR_030104 - Q13395:p.Asn743Ser chr1 230872584 230872587 VAR_030105 - Q13395:p.His864Pro chr1 230871685 230871688 VAR_030106 - Q13395:p.Phe997Leu chr1 230870193 230870196 VAR_030107 - Q13395:p.Thr1038Ile chr1 230841028 230841031 VAR_030108 - Q13395:p.Ile1359Val chr1 230836178 230836181 VAR_030109 - Q13395:p.Ile1461Val chr17 41395551 41395554 VAR_019660 + P10636:p.Arg5His chr17 41395551 41395554 VAR_019661 + P10636:p.Arg5Leu chr17 41416859 41416862 VAR_010340 + P10636:p.Asp285Asn chr17 41416871 41416874 VAR_010341 + P10636:p.Val289Ala chr17 41423218 41423221 VAR_010342 + P10636:p.His441Tyr chr17 41423236 41423239 VAR_010343 + P10636:p.Ser447Pro chr17 41429813 41429816 VAR_010344 + P10636:p.Lys574Thr chr17 41429840 41429843 VAR_019662 + P10636:p.Leu583Val chr17 41429858 41429861 VAR_010345 + P10636:p.Gly589Val chr17 41443524 41443527 VAR_010346 + P10636:p.Asn596Lys chr17 41443527 41443530 VAR_010347 + P10636:p.597del chr17 41443575 41443578 VAR_019663 + P10636:p.Asn613His chr17 41443575 41443578 VAR_019664 + P10636:p.613del chr17 41443590 41443593 VAR_010348 + P10636:p.Pro618Leu chr17 41443590 41443593 VAR_010349 + P10636:p.Pro618Ser chr17 41443596 41443599 VAR_037439 + P10636:p.Gly620Val chr17 41443602 41443605 VAR_010350 + P10636:p.Ser622Asn chr17 41447478 41447481 VAR_037440 + P10636:p.Lys634Met chr17 41447487 41447490 VAR_019665 + P10636:p.Ser637Phe chr17 41451841 41451844 VAR_010351 + P10636:p.Val654Met chr17 41451856 41451859 VAR_019666 + P10636:p.Glu659Val chr17 41451886 41451889 VAR_019667 + P10636:p.Ser669Leu chr17 41451937 41451940 VAR_019668 + P10636:p.Lys686Ile chr17 41457220 41457223 VAR_010352 + P10636:p.Gly706Arg chr17 41457271 41457274 VAR_010353 + P10636:p.Arg723Trp chr7 27600342 27600345 VAR_026286 + Q86VP1:p.Leu307Ile chr7 27606029 27606032 VAR_035665 + Q86VP1:p.Gln457Arg chrX 153162431 153162434 VAR_014110 + Q16635:p.Arg94Ser chrX 153162732 153162735 VAR_014111 + Q16635:p.Cys118Arg chrX 153169222 153169225 VAR_014112 + Q16635:p.Gly197Arg chr11 56836595 56836598 VAR_032615 - Q9C0C2:p.Ser714Asn chr12 47865851 47865854 VAR_039332 - Q71U36:p.Ile188Leu chr12 47865626 47865629 VAR_039333 - Q71U36:p.Pro263Thr chr12 47865623 47865626 VAR_039334 - Q71U36:p.Arg264Cys chr12 47865557 47865560 VAR_039335 - Q71U36:p.Leu286Phe chr12 47865209 47865212 VAR_039336 - Q71U36:p.Arg402Cys chr12 47865209 47865212 VAR_039337 - Q71U36:p.Arg402His chr12 47865158 47865161 VAR_039338 - Q71U36:p.Ser419Leu chr12 47865074 47865077 VAR_034540 - Q71U36:p.Glu447Lys chr22 16984199 16984202 VAR_024680 + Q9NY65:p.Gln301Arg chr20 57031363 57031366 VAR_034542 + Q9H4B7:p.Gln43His chr20 57031363 57031366 VAR_034543 + Q9H4B7:p.Gln43Pro chr19 6446414 6446417 VAR_026044 - P04350:p.Ala365Val chr15 71963608 71963611 VAR_034544 + Q8IYX1:p.Arg113Gln chr6 42821318 42821321 VAR_026823 - Q15814:p.Gly157Asp chr6 42821282 42821285 VAR_020448 - Q15814:p.Pro169Ser chr6 42821249 42821252 VAR_024653 - Q15814:p.Pro180Ser chr6 42820952 42820955 VAR_026824 - Q15814:p.Ala279Thr chr4 37726321 37726324 VAR_028089 + Q86TI0:p.Ser14Pro chr4 37726444 37726447 VAR_028090 + Q86TI0:p.Thr55Ile chr4 37838959 37838962 VAR_028091 + Q86TI0:p.Val228Gly chr4 37914120 37914123 VAR_028092 + Q86TI0:p.Tyr685Ser chr4 37961420 37961423 VAR_028093 + Q86TI0:p.Arg1136Gln chr2 101086440 101086443 VAR_024654 - O95759:p.Gly711Arg chr2 101082986 101082989 VAR_022128 - O95759:p.Arg836Gly chr2 101082899 101082902 VAR_022129 - O95759:p.Met865Val chr1 231890911 231890923 VAR_032920 + Q15813:p.52_55del chr1 231920112 231920115 VAR_032921 + Q15813:p.Val205Ala chr1 231926710 231926713 VAR_032922 + Q15813:p.Ser333Thr chr1 231928232 231928235 VAR_032923 + Q15813:p.Glu409Gly chr4 107573922 107573925 VAR_041380 - Q8TEA7:p.Arg66Leu chr4 107539199 107539202 VAR_041381 - Q8TEA7:p.Ile151Met chr4 107526035 107526038 VAR_041382 - Q8TEA7:p.Asp265Asn chr4 107526032 107526035 VAR_030123 - Q8TEA7:p.Gln266Glu chr4 107515225 107515228 VAR_041383 - Q8TEA7:p.Thr425Met chr4 107514065 107514068 VAR_041384 - Q8TEA7:p.Met471Ile chr4 107512393 107512396 VAR_030124 - Q8TEA7:p.Lys489Asn chr4 107512351 107512354 VAR_041385 - Q8TEA7:p.Arg503Ile chr4 107450014 107450017 VAR_041386 - Q8TEA7:p.Arg692Cys chr4 107374395 107374398 VAR_041387 - Q8TEA7:p.Ile806Val chr17 55318317 55318320 VAR_030000 - Q9UJT1:p.Met76Thr chr17 38072224 38072227 VAR_020418 + Q9NRH3:p.Met413Val chr12 63160167 63160169 VAR_041208 + Q9UHD2:p.Arg271Gln chr12 63161888 63161889 VAR_041208 + Q9UHD2:p.Arg271Gln chr12 63161946 63161949 VAR_041209 + Q9UHD2:p.Lys291Glu chr12 63161961 63161964 VAR_041210 + Q9UHD2:p.Asp296His chr12 63164518 63164521 VAR_024746 + Q9UHD2:p.Asn388Asp chr12 63165539 63165542 VAR_041211 + Q9UHD2:p.Gly410Arg chr12 63168582 63168585 VAR_041212 + Q9UHD2:p.Val464Ala chr12 63175809 63175812 VAR_024747 + Q9UHD2:p.Lys570Gln chr14 54976923 54976926 VAR_038692 - Q6SJ96:p.Arg31Pro chr6 170788729 170788741 VAR_016987 + P20226:p.92_95del chr7 44922010 44922013 VAR_030071 - Q969Z0:p.Ala22Ser chr7 44921905 44921908 VAR_030072 - Q969Z0:p.Pro57Leu chr11 67158936 67158939 VAR_021984 - O75333:p.Lys101Thr chr1 164992233 164992236 VAR_018387 + O60806:p.Ser128Phe chr22 18125348 18125351 VAR_035025 + O43435:p.Phe148Tyr chr22 18126298 18126301 VAR_035026 + O43435:p.His194Gln chr22 18127997 18128000 VAR_034545 + O43435:p.Gly310Ser chr22 18128078 18128079 VAR_036065 + O43435:p.Gly337Glu chr22 18141296 18141298 VAR_036065 + O43435:p.Gly337Glu chr22 18141334 18141337 VAR_024657 + O43435:p.Thr350Met chr17 43165915 43165918 VAR_020252 + Q9UL17:p.His33Gln chr17 43177137 43177140 VAR_029275 + Q9UL17:p.Ile339Val chrX 79083958 79083961 VAR_036066 + Q9Y458:p.Val16Ala chrX 79084063 79084066 VAR_036067 + Q9Y458:p.Ala51Thr chrX 79084879 79084882 VAR_015383 + Q9Y458:p.Gly118Cys chrX 79085710 79085713 VAR_021831 + Q9Y458:p.Met121Val chrX 79087334 79087337 VAR_021832 + Q9Y458:p.Pro183Leu chrX 79087346 79087349 VAR_021833 + Q9Y458:p.Glu187Lys chrX 79088353 79088356 VAR_021829 + Q9Y458:p.Leu214Pro chrX 79088491 79088494 VAR_015384 + Q9Y458:p.Thr260Met chrX 79088503 79088506 VAR_021830 + Q9Y458:p.Asn264Tyr chrX 79089689 79089692 VAR_036068 + Q9Y458:p.Asp307Asn chr12 113581631 113581634 VAR_009601 - O15119:p.Leu143Pro chr12 113581613 113581616 VAR_009602 - O15119:p.Tyr149Ser chr17 56888648 56888651 VAR_020251 + P57082:p.Gly6Ala chr17 56888735 56888738 VAR_026772 + P57082:p.Ala35Val chr17 56912062 56912065 VAR_026745 + P57082:p.Gly248Val chr17 56912380 56912383 VAR_021983 + P57082:p.Ala314Val chr17 56915611 56915614 VAR_026746 + P57082:p.Gln531Arg chr16 30007851 30007854 VAR_027836 - O95947:p.Ser178Phe chr16 30007848 30007851 VAR_027837 - O95947:p.Pro179Ser chrX 101188001 101188004 VAR_034546 + Q9H3H9:p.Asp19Gly chrX 101188148 101188151 VAR_034547 + Q9H3H9:p.Gly68Ala chr19 4769251 4769254 VAR_038789 - Q8IUC6:p.Met46Ile chr6 31237684 31237687 VAR_017742 + Q9Y242:p.Pro241Leu chr22 40934354 40934357 VAR_025427 - Q9UGU0:p.Thr485Asn chr22 40933643 40933646 VAR_025428 - Q9UGU0:p.Ser722Gly chr22 40932314 40932317 VAR_025429 - Q9UGU0:p.Met1165Ile chr22 40931834 40931837 VAR_025430 - Q9UGU0:p.Ser1325Asn chr2 27283724 27283727 VAR_038325 + Q7RTU1:p.Arg25Gln chr2 27283769 27283772 VAR_038326 + Q7RTU1:p.Thr40Ser chr14 95226939 95226942 VAR_020467 + O95988:p.Gly93Arg chr11 59388109 59388112 VAR_031923 - P20061:p.Arg35His chr11 59379951 59379954 VAR_031924 - P20061:p.Asp301Tyr chr22 29335927 29335930 VAR_001639 + P20062:p.Ile219Leu chr5 149720959 149720962 VAR_005630 + Q13428:p.Trp53Arg chr5 149735151 149735154 VAR_005631 + Q13428:p.Pro516Leu chr5 149749683 149749686 VAR_035666 + Q13428:p.Arg1030Lys chr5 149756423 149756426 VAR_005633 + Q13428:p.Ala1390Val chr5 149756549 149756552 VAR_005634 + Q13428:p.Asp1432Gly chr21 32872937 32872940 VAR_016099 - Q8TDR4:p.His145Arg chr6 160180890 160180893 VAR_036258 - P17987:p.Val7Leu chr5 10309173 10309176 VAR_030658 + P48643:p.His147Arg chr10 132792568 132792571 VAR_037602 - Q5VWI1:p.Lys437Thr chr3 46595616 46595619 VAR_024262 + P13385:p.Val22Ala chr3 46595763 46595766 VAR_021903 + P13385:p.Tyr43Asp chr12 102879159 102879162 VAR_018892 + Q13569:p.Gly199Ser chr12 102883200 102883203 VAR_018893 + Q13569:p.Val367Met chr20 43864092 43864095 VAR_014956 + Q9H147:p.Ala183Thr chr6 46764397 46764400 VAR_029050 + O60522:p.Arg192Gln chr6 46765015 46765018 VAR_029051 + O60522:p.Thr398Ala chr6 46766863 46766866 VAR_029052 + O60522:p.Gln1014Glu chr11 120494283 120494286 VAR_036423 + O75443:p.Arg284His chr11 120504206 120504209 VAR_036424 + O75443:p.Ile771Asn chr11 120505625 120505628 VAR_036425 + O75443:p.Asn813Thr chr11 120513566 120513569 VAR_018970 + O75443:p.Cys1057Ser chr11 120536218 120536221 VAR_018971 + O75443:p.Cys1619Ser chr11 120542570 120542573 VAR_018973 + O75443:p.Leu1820Phe chr11 120542582 120542585 VAR_018974 + O75443:p.Gly1824Asp chr11 120542621 120542624 VAR_018975 + O75443:p.Cys1837Gly chr11 120543993 120543996 VAR_018976 + O75443:p.Tyr1870Cys chr11 120563811 120563814 VAR_018977 + O75443:p.Arg2021His chr11 120565729 120565732 VAR_018978 + O75443:p.Ser2100Thr chr1 179100887 179100890 VAR_035356 - Q5T9Z0:p.Tyr130His chr9 100389584 100389587 VAR_032060 + Q8IYR6:p.Val189Ile chr17 6659923 6659926 VAR_034548 - Q969V4:p.Ile146Val chr17 6656963 6656966 VAR_022150 - Q969V4:p.Arg254Cys chr17 6644842 6644845 VAR_022151 - Q969V4:p.Val332Ile chr1 36219750 36219753 VAR_034549 + Q9UIF3:p.Arg46Cys chr17 15158160 15158163 VAR_024658 - Q9BXF9:p.Gly282Ala chr17 15156513 15156516 VAR_024659 - Q9BXF9:p.Val296Ala chr17 15152731 15152734 VAR_034550 - Q9BXF9:p.Glu410Asp chr2 94959444 94959447 VAR_029085 + Q8WW24:p.Thr83Met chr2 94959501 94959504 VAR_029086 + Q8WW24:p.Lys102Asn chr2 94962494 94962497 VAR_035941 + Q8WW24:p.Cys272Ser chr2 94964304 94964307 VAR_029087 + Q8WW24:p.Asn409Lys chr17 35075174 35075177 VAR_026649 + O15273:p.13del chr17 35075591 35075594 VAR_026650 + O15273:p.Arg70Trp chr17 35075603 35075606 VAR_029445 + O15273:p.Leu74His chr17 35075642 35075645 VAR_015397 + O15273:p.Arg87Gln chr17 35075651 35075654 VAR_026651 + O15273:p.Pro90Leu chr17 35075777 35075780 VAR_029446 + O15273:p.Glu132Gln chr17 35075792 35075795 VAR_029447 + O15273:p.Thr137Ile chr17 35075840 35075843 VAR_029448 + O15273:p.Arg153His chrX 123531209 123531212 VAR_036596 - Q9UKZ4:p.Leu342Phe chrX 123356447 123356450 VAR_036597 - Q9UKZ4:p.Val1216Ile chrX 123281660 123281663 VAR_036598 - Q9UKZ4:p.Phe1482Val chrX 123243589 123243592 VAR_036599 - Q9UKZ4:p.Gln2235His chrX 123243106 123243109 VAR_036600 - Q9UKZ4:p.Leu2396Phe chr9 114927946 114927949 VAR_024266 - P24821:p.Gln539Arg chr9 114927748 114927751 VAR_024267 - P24821:p.Val605Ile chr9 114926132 114926135 VAR_024268 - P24821:p.Gln680Arg chr9 114882822 114882825 VAR_020169 - P24821:p.Ala1781Thr chr1 171781035 171781038 VAR_033832 + Q9UQP3:p.Asp289Asn chr1 171794952 171794955 VAR_033833 + Q9UQP3:p.Thr499Met chr1 171819385 171819388 VAR_033834 + Q9UQP3:p.Trp807Arg chr1 171824329 171824332 VAR_024269 + Q9UQP3:p.Pro930Leu chr1 171824362 171824365 VAR_033835 + Q9UQP3:p.Thr941Met chr1 172107123 172107126 VAR_021906 - Q92752:p.Ala128Ser chr1 172104029 172104032 VAR_021907 - Q92752:p.Gly293Ser chr1 172080378 172080381 VAR_030737 - Q92752:p.Arg643Lys chr17 35894268 35894271 VAR_027265 - Q8IZW8:p.Ser498Asn chr17 35888410 35888413 VAR_036515 - Q8IZW8:p.Arg642Cys chr9 35057904 35057907 VAR_033016 - P55072:p.Arg95Gly chr9 35055358 35055361 VAR_033017 - P55072:p.Arg155Cys chr9 35055358 35055361 VAR_033018 - P55072:p.Arg155His chr9 35055358 35055361 VAR_033019 - P55072:p.Arg155Pro chr9 35055346 35055349 VAR_033020 - P55072:p.Arg159His chr9 35055250 35055253 VAR_033021 - P55072:p.Arg191Gln chr9 35054162 35054165 VAR_033022 - P55072:p.Ala232Glu chr5 1347394 1347397 VAR_036863 - O14746:p.Ala202Thr chr5 1347163 1347166 VAR_036864 - O14746:p.Ala279Thr chr5 1346764 1346767 VAR_025149 - O14746:p.His412Tyr chr5 1346677 1346680 VAR_036865 - O14746:p.441del chr5 1332453 1332456 VAR_036866 - O14746:p.Val694Met chr10 70002584 70002587 VAR_027734 + Q8NFU7:p.Asp162Gly chr10 70002677 70002680 VAR_027735 + Q8NFU7:p.Ser193Thr chr10 70002866 70002869 VAR_027736 + Q8NFU7:p.Ala256Val chr10 70075543 70075546 VAR_027737 + Q8NFU7:p.Asn1018Ser chr10 70075858 70075861 VAR_027738 + Q8NFU7:p.Ile1123Met chr3 45047375 45047378 VAR_004189 + P05452:p.Ala55Ser chr3 45047384 45047387 VAR_004190 + P05452:p.Val58Met chr14 80752551 80752554 VAR_035667 - P52655:p.Leu30Val chr1 89065031 89065034 VAR_011977 - Q00403:p.Pro19Ser chr1 89037852 89037855 VAR_035722 - Q00403:p.Arg132Gln chr11 18319475 18319478 VAR_014345 + P32780:p.Arg234Trp chr11 18325725 18325728 VAR_014346 + P32780:p.Ser285Phe chr11 18338818 18338821 VAR_014347 + P32780:p.Leu517Val chr6 30988133 30988136 VAR_019056 + Q92759:p.Arg337Gln chr6 158583442 158583445 VAR_022647 + Q6ZYL4:p.Leu21Pro chrX 88983817 88983820 VAR_017867 + Q8IUE1:p.Val197Ile chr14 104755071 104755074 VAR_035723 - Q92994:p.Val542Met chr2 85273228 85273231 VAR_035938 + Q9HCS4:p.Thr147Asn chr10 59815346 59815349 VAR_016124 + Q00059:p.Ser12Thr chr1 243046811 243046814 VAR_030097 - Q9H5Q4:p.Pro156Leu chr1 243040558 243040561 VAR_030098 - Q9H5Q4:p.His264Tyr chr13 113342550 113342553 VAR_029293 + Q14186:p.Asp401Asn chr3 143196675 143196678 VAR_002272 - Q14188:p.Ile64Thr chr3 143196624 143196627 VAR_020567 - Q14188:p.Pro81Ser chr19 1601223 1601226 VAR_036396 - P15923:p.Ala8Val chr7 115218428 115218431 VAR_037661 - O14948:p.Gln6His chr7 115190765 115190768 VAR_037662 - O14948:p.Gly100Ser chr7 115188591 115188594 VAR_037663 - O14948:p.Leu146Val chr21 42656574 42656577 VAR_015281 - P04155:p.Thr32Ile chr21 42656574 42656577 VAR_015282 - P04155:p.Thr32Lys chr21 42656568 42656571 VAR_015283 - P04155:p.Ala34Asp chr21 42656559 42656562 VAR_015284 - P04155:p.Glu37Lys chr21 42656532 42656535 VAR_015285 - P04155:p.Val46Ile chr21 42656505 42656508 VAR_015286 - P04155:p.Gly55Val chr5 118756828 118756831 VAR_032047 + O95379:p.Ser151Cys chr2 188157207 188157210 VAR_012004 - P10646:p.Val292Met chr7 93163151 93163154 VAR_012005 - P48307:p.Val102Ala chr3 197289118 197289121 VAR_012737 - P02786:p.Gly142Ser chr7 99883469 99883472 VAR_042515 - Q9UP52:p.Val22Ile chr7 99875787 99875790 VAR_012738 - Q9UP52:p.Met172Lys chr7 99875538 99875541 VAR_034122 - Q9UP52:p.Asp230Glu chr7 99875514 99875517 VAR_034123 - Q9UP52:p.Ile238Met chr7 99871551 99871554 VAR_042516 - Q9UP52:p.Arg455Gln chr7 99869102 99869105 VAR_042517 - Q9UP52:p.Gln690Pro chr7 99863280 99863283 VAR_034124 - Q9UP52:p.Arg752His chrX 13440770 13440773 VAR_028970 + Q8N8B7:p.Ser163Leu chr1 94717937 94717940 VAR_014298 - P13726:p.Thr36Ala chr1 94710822 94710825 VAR_014299 - P13726:p.Ile145Val chr1 94710768 94710771 VAR_012008 - P13726:p.Arg163Trp chr1 92039067 92039070 VAR_020891 - Q03167:p.Ser14Asn chr1 92039064 92039067 VAR_014920 - Q03167:p.Ser15Phe chr1 91912432 91912435 VAR_020892 - Q03167:p.Trp163Leu chr1 91899533 91899536 VAR_020895 - Q03167:p.Asn358Asn chr1 91890081 91890084 VAR_020893 - Q03167:p.Ala634Thr chr1 91875700 91875703 VAR_020894 - Q03167:p.Gly764Arg chr2 70595163 70595166 VAR_024271 - P01135:p.Val109Met chr19 46550714 46550717 VAR_016172 - P01137:p.Arg25Pro chr19 46550546 46550549 VAR_017607 - P01137:p.Tyr81His chr19 46539972 46539975 VAR_017608 - P01137:p.Arg218Cys chr19 46539972 46539975 VAR_017609 - P01137:p.Arg218His chr19 46539960 46539963 VAR_017610 - P01137:p.His222Asp chr19 46539951 46539954 VAR_017611 - P01137:p.Cys225Arg chr19 46539698 46539701 VAR_016173 - P01137:p.Thr263Ile chr1 214908708 214908711 VAR_012708 + P61812:p.Arg91His chr1 214995926 214995929 VAR_018923 + P61812:p.Val207Leu chr14 75516809 75516812 VAR_016315 - P10600:p.Thr60Met chr9 98947111 98947120 VAR_022342 + P36897:p.24_26del chr9 98947117 98947120 VAR_022343 + P36897:p.Ala26Ala chr9 98974458 98974461 VAR_041412 + P36897:p.Val153Ile chr9 98979718 98979721 VAR_022344 + P36897:p.Thr200Ile chr9 98979814 98979817 VAR_029481 + P36897:p.Lys232Glu chr9 98979841 98979844 VAR_029482 + P36897:p.Ser241Leu chr9 98979919 98979922 VAR_029483 + P36897:p.Asn267His chr9 98984437 98984440 VAR_041413 + P36897:p.Tyr291Cys chr9 98984518 98984521 VAR_022345 + P36897:p.Met318Arg chr9 98988388 98988391 VAR_022346 + P36897:p.Asp400Gly chr9 98991088 98991091 VAR_022347 + P36897:p.Arg487Pro chr9 98991088 98991091 VAR_029484 + P36897:p.Arg487Gln chr9 98991088 98991091 VAR_029485 + P36897:p.Arg487Trp chr3 30661253 30661256 VAR_020510 + P37173:p.Met36Val chr3 30661328 30661331 VAR_041414 + P37173:p.Cys61Arg chr3 30661364 30661367 VAR_036070 + P37173:p.Ile73Val chr3 30688249 30688252 VAR_017606 + P37173:p.Val191Ile chr3 30688600 30688603 VAR_022351 + P37173:p.Leu308Pro chr3 30688621 30688624 VAR_008156 + P37173:p.Thr315Met chr3 30688660 30688663 VAR_041415 + P37173:p.His328Tyr chr3 30688684 30688687 VAR_022352 + P37173:p.Tyr336Asn chr3 30688741 30688744 VAR_022353 + P37173:p.Ala355Pro chr3 30688747 30688750 VAR_022354 + P37173:p.Gly357Trp chr3 30688795 30688798 VAR_041416 + P37173:p.Met373Ile chr3 30688837 30688840 VAR_022355 + P37173:p.Val387Met chr3 30690648 30690651 VAR_022356 + P37173:p.Asn435Ser chr3 30690660 30690663 VAR_028063 + P37173:p.Val439Ala chr3 30690684 30690687 VAR_022357 + P37173:p.Val447Ala chr3 30690690 30690693 VAR_022358 + P37173:p.Ser449Phe chr3 30690699 30690702 VAR_022359 + P37173:p.Leu452Met chr3 30690723 30690726 VAR_029760 + P37173:p.Arg460Cys chr3 30690723 30690726 VAR_029761 + P37173:p.Arg460His chr3 30704950 30704953 VAR_041417 + P37173:p.Asn490Ser chr3 30707966 30707969 VAR_015816 + P37173:p.Glu526Gln chr3 30707972 30707975 VAR_022360 + P37173:p.Arg528Cys chr3 30707972 30707975 VAR_022361 + P37173:p.Arg528His chr3 30707999 30708002 VAR_022362 + P37173:p.Arg537Cys chr18 3446416 3446419 VAR_009961 + Q15583:p.Ser157Cys chr18 3446521 3446524 VAR_009962 + Q15583:p.Pro192Arg chr18 3447437 3447440 VAR_023803 + Q15583:p.Gln236Leu chr18 3447569 3447572 VAR_009963 + Q15583:p.Thr280Ala chr18 3447602 3447605 VAR_009964 + Q15583:p.Ser291Phe chr18 3447605 3447608 VAR_020151 + Q15583:p.Pro292Leu chr14 23801272 23801275 VAR_015220 - P22735:p.Ser42Tyr chr14 23801092 23801095 VAR_020918 - P22735:p.Asp102Val chr14 23800852 23800855 VAR_029268 - P22735:p.Asp132Asn chr14 23800822 23800825 VAR_007476 - P22735:p.Arg142His chr14 23800819 23800822 VAR_007477 - P22735:p.Arg143Cys chr14 23800819 23800822 VAR_007478 - P22735:p.Arg143His chr14 23799598 23799601 VAR_007479 - P22735:p.Gly218Ser chr14 23798994 23798997 VAR_020919 - P22735:p.Asn289Thr chr14 23798812 23798815 VAR_020920 - P22735:p.Arg307Trp chr14 23798764 23798767 VAR_015221 - P22735:p.Arg323Gln chr14 23798142 23798145 VAR_007480 - P22735:p.Val379Leu chr14 23797711 23797714 VAR_015222 - P22735:p.Arg389His chr14 23797690 23797693 VAR_007481 - P22735:p.Arg396Leu chr14 23788406 23788409 VAR_024660 - P22735:p.Asp802Val chr20 36203884 36203887 VAR_037998 - P21980:p.Met330Arg chr20 36203881 36203884 VAR_037999 - P21980:p.Ile331Asn chr20 36192118 36192121 VAR_036554 - P21980:p.Gly660Val chr20 2323261 2323264 VAR_013250 + O95932:p.Met58Val chr15 41339776 41339779 VAR_013248 - O43548:p.Pro67Ser chr15 41339650 41339653 VAR_025848 - O43548:p.Thr109Met chr15 41339638 41339641 VAR_025849 - O43548:p.Gly113Cys chr15 41318701 41318704 VAR_013249 - O43548:p.Ala352Gly chr8 56861488 56861491 VAR_024735 + Q96RS0:p.Ile160Val chr8 56871253 56871256 VAR_024736 + Q96RS0:p.Ile511Thr chr8 56874209 56874212 VAR_024737 + Q96RS0:p.Val576Ile chr8 56886109 56886112 VAR_024738 + Q96RS0:p.Phe754Cys chr12 70356975 70356978 VAR_034551 + Q9H0W7:p.Thr170Met chr2 242293198 242293201 VAR_027161 - Q8WY91:p.Ser121Gly chr19 41222751 41222754 VAR_034552 - Q8NA92:p.Arg70His chr19 41222400 41222403 VAR_020264 - Q8NA92:p.Lys112Arg chr19 41222265 41222268 VAR_034553 - Q8NA92:p.Pro157Ser chrX 105087065 105087068 VAR_007102 - P05543:p.Ser43Thr chrX 105086846 105086849 VAR_007103 - P05543:p.Ile116Asn chrX 105086795 105086798 VAR_007104 - P05543:p.Ala133Pro chrX 105086621 105086624 VAR_007105 - P05543:p.Asp191Asn chrX 105085510 105085513 VAR_007106 - P05543:p.Ala211Thr chrX 105085402 105085405 VAR_007107 - P05543:p.Leu247Pro chrX 105084505 105084508 VAR_007108 - P05543:p.Leu303Phe chrX 105083830 105083833 VAR_007109 - P05543:p.His351Tyr chrX 105083734 105083737 VAR_007110 - P05543:p.Pro383Leu chr3 24160031 24160034 VAR_004632 - P10828:p.Ala234Thr chr3 24160004 24160007 VAR_004633 - P10828:p.Arg243Trp chr3 24144189 24144192 VAR_004634 - P10828:p.Arg316His chr3 24144186 24144189 VAR_004635 - P10828:p.Ala317Thr chr3 24144177 24144180 VAR_004636 - P10828:p.Arg320Cys chr3 24144177 24144180 VAR_004637 - P10828:p.Arg320His chr3 24144141 24144144 VAR_004638 - P10828:p.Gly332Arg chr3 24144126 24144129 VAR_011784 - P10828:p.Thr337Ile chr3 24144126 24144129 VAR_004639 - P10828:p.337del chr3 24144123 24144126 VAR_004640 - P10828:p.Arg338Trp chr3 24144117 24144120 VAR_004641 - P10828:p.Gln340His chr3 24144111 24144114 VAR_004642 - P10828:p.Lys342Ile chr3 24144102 24144105 VAR_004645 - P10828:p.Gly345Arg chr3 24144102 24144105 VAR_004644 - P10828:p.Gly345Ser chr3 24144102 24144105 VAR_004643 - P10828:p.Gly345Val chr3 24144096 24144099 VAR_004646 - P10828:p.Gly347Glu chr3 24144093 24144096 VAR_004647 - P10828:p.Val348Glu chr3 24139486 24139489 VAR_004648 - P10828:p.Thr426Ile chr3 24139450 24139453 VAR_004649 - P10828:p.Arg438His chr3 24139438 24139441 VAR_004650 - P10828:p.Met442Val chr3 24139435 24139438 VAR_004651 - P10828:p.Lys443Glu chr3 24139426 24139429 VAR_004652 - P10828:p.Cys446Arg chr3 24139405 24139408 VAR_004653 - P10828:p.Pro453His chr3 24139405 24139408 VAR_004654 - P10828:p.Pro453Ser chr3 24139405 24139408 VAR_004655 - P10828:p.Pro453Thr chr1 148694956 148694959 VAR_037865 - Q5T1C6:p.Leu17Arg chr1 148680728 148680731 VAR_037866 - Q5T1C6:p.Ser38Cys chr8 8898028 8898031 VAR_018107 + Q8IV48:p.Leu16Pro chr6 160166752 160166755 VAR_019686 + Q9BWD1:p.Lys211Arg chr3 38145813 38145816 VAR_011904 - P09110:p.Glu172Asp chr11 107497555 107497558 VAR_007496 + P24752:p.Ala5Pro chr11 107510171 107510174 VAR_007497 + P24752:p.85del chr11 107510195 107510198 VAR_007498 + P24752:p.Asn93Ser chr11 107514852 107514855 VAR_007499 + P24752:p.Gly152Ala chr11 107514870 107514873 VAR_007500 + P24752:p.Asn158Asp chr11 107514945 107514948 VAR_007501 + P24752:p.Gly183Arg chr11 107518435 107518438 VAR_007502 + P24752:p.Thr297Met chr11 107518447 107518450 VAR_007503 + P24752:p.Ala301Pro chr11 107518480 107518483 VAR_007504 + P24752:p.Ile312Thr chr11 107519975 107519978 VAR_007505 + P24752:p.Ala333Pro chr11 107522267 107522270 VAR_007506 + P24752:p.Gly379Val chr11 107522270 107522273 VAR_007507 + P24752:p.Ala380Thr chr22 28246415 28246418 VAR_035692 - Q13769:p.Thr380Lys chr22 28239612 28239615 VAR_037134 - Q13769:p.Thr475Ser chr22 28237901 28237904 VAR_035693 - Q13769:p.Gly499Ser chr11 46701577 46701580 VAR_011781 + P00734:p.Thr165Met chr11 46704022 46704025 VAR_006711 + P00734:p.Glu200Lys chr11 46704688 46704691 VAR_006712 + P00734:p.Arg314Cys chr11 46704688 46704691 VAR_006713 + P00734:p.Arg314His chr11 46706128 46706131 VAR_006714 + P00734:p.Met380Thr chr11 46706146 46706149 VAR_011782 + P00734:p.Pro386Thr chr11 46706263 46706266 VAR_006715 + P00734:p.Arg425Cys chr11 46706281 46706284 VAR_006716 + P00734:p.Arg431His chr11 46706871 46706874 VAR_006717 + P00734:p.Arg461Trp chr11 46707557 46707560 VAR_006718 + P00734:p.Glu509Ala chr11 46717465 46717468 VAR_006719 + P00734:p.Gly601Val chr13 51870013 51870016 VAR_027474 - Q9NS62:p.Val125Gly chr13 51869716 51869719 VAR_027475 - Q9NS62:p.Arg224Gly chr13 51849801 51849804 VAR_027476 - Q9NS62:p.Lys768Arg chr16 20655831 20655834 VAR_037645 - Q9NXG2:p.Glu311Asp chr3 9401222 9401225 VAR_028976 + Q9BV44:p.Arg459Gln chr8 133952902 133952905 VAR_010212 + P01266:p.Gln135His chr8 133968341 133968344 VAR_016190 + P01266:p.Gln515Glu chr8 133968608 133968611 VAR_016852 + P01266:p.Ser604Asp chr8 133968755 133968758 VAR_016853 + P01266:p.Gly653Asp chr8 133969433 133969436 VAR_010213 + P01266:p.Ser734Ala chr8 133969721 133969724 VAR_010214 + P01266:p.Gln830Glu chr8 133969841 133969844 VAR_002365 + P01266:p.Gln870His chr8 133975307 133975310 VAR_016854 + P01266:p.985del chr8 133979155 133979158 VAR_010215 + P01266:p.Met1028Val chr8 133979200 133979203 VAR_016855 + P01266:p.His1043Tyr chr8 133979630 133979633 VAR_016856 + P01266:p.Ile1059Thr chr8 133988269 133988272 VAR_010216 + P01266:p.Cys1264Arg chr8 133989698 133989701 VAR_010217 + P01266:p.Asp1312Gly chr8 133994622 133994625 VAR_016857 + P01266:p.Trp1437Arg chr8 134000810 134000813 VAR_016858 + P01266:p.Pro1463His chr8 134044464 134044467 VAR_010218 + P01266:p.Asp1838Asn chr8 134049339 134049342 VAR_016859 + P01266:p.Ala1936Thr chr8 134050955 134050958 VAR_032013 + P01266:p.Arg1979Trp chr8 134053230 134053233 VAR_010219 + P01266:p.Cys1996Ser chr8 134053239 134053242 VAR_010220 + P01266:p.Arg1999Trp chr8 134093335 134093338 VAR_016860 + P01266:p.Asp2091Glu chr8 134095073 134095076 VAR_016861 + P01266:p.Pro2149Leu chr8 134095136 134095139 VAR_016862 + P01266:p.Gln2170Arg chr8 134099365 134099368 VAR_016863 + P01266:p.Arg2242His chr8 134177727 134177730 VAR_010221 + P01266:p.Trp2501Arg chr8 134194862 134194865 VAR_010222 + P01266:p.Arg2530Gln chr6 155653908 155653911 VAR_038534 + Q8IVF5:p.Arg1101Cys chr10 73492858 73492861 VAR_022020 - Q92563:p.Gly353Ser chr5 149355927 149355930 VAR_030044 - Q17RP2:p.Arg59Trp chr5 149355123 149355126 VAR_030045 - Q17RP2:p.Gln327Arg chr16 4330356 4330359 VAR_013764 - Q9Y3D7:p.Gln114Lys chrX 100407727 100407730 VAR_010237 - O60220:p.Cys66Trp chr11 6459982 6459985 VAR_025665 + Q9Y5J6:p.Gly90Ser chr5 156412136 156412139 VAR_023321 - Q96D42:p.Pro157Pro chr5 156412136 156412139 VAR_023322 - Q96D42:p.Pro157Pro chr5 156412022 156412025 VAR_023323 - Q96D42:p.195del chr22 31579816 31579819 VAR_007508 + P35625:p.Ser179Cys chr22 31579846 31579849 VAR_008290 + P35625:p.Gly189Cys chr22 31579849 31579852 VAR_010901 + P35625:p.Gly190Cys chr22 31579852 31579855 VAR_007509 + P35625:p.Tyr191Cys chr22 31579891 31579894 VAR_007510 + P35625:p.Ser204Cys chr12 55108950 55108953 VAR_036435 - Q9UNS1:p.Ala429Asp chr12 55101029 55101032 VAR_036436 - Q9UNS1:p.Gln1008Glu chr12 55100918 55100921 VAR_021485 - Q9UNS1:p.Pro1018Leu chr15 64428784 64428787 VAR_035195 - Q9BVW5:p.Ala111Gly chr15 64416454 64416457 VAR_035196 - Q9BVW5:p.Ala267Ser chr11 125666023 125666026 VAR_019143 + P58753:p.Ala9Pro chr11 125666035 125666038 VAR_019144 + P58753:p.Arg13Trp chr11 125667676 125667679 VAR_036691 + P58753:p.Ser55Asn chr11 125667799 125667802 VAR_019145 + P58753:p.Asp96Asn chr11 125668051 125668054 VAR_019146 + P58753:p.Ser180Leu chrX 153045128 153045131 VAR_029867 + P51854:p.Leu24Phe chrX 153060136 153060139 VAR_029868 + P51854:p.Ile152Thr chr4 164751165 164751168 VAR_031990 - Q9H0I9:p.Arg442Gln chr4 164750721 164750724 VAR_031991 - Q9H0I9:p.Gln590His chr4 167344493 167344496 VAR_036142 + O43897:p.Leu688Val chr9 35702001 35702004 VAR_023751 - Q9Y490:p.Ser1227Leu chr9 35694788 35694791 VAR_023752 - Q9Y490:p.Arg1919Trp chr15 60816451 60816454 VAR_014432 + Q9Y4G6:p.Ala1148Ser chr15 60898791 60898794 VAR_014433 + Q9Y4G6:p.Phe2266Leu chr4 38599288 38599291 VAR_024669 - Q9BXR5:p.Ala163Ser chr4 38599276 38599279 VAR_028125 - Q9BXR5:p.Leu167Pro chr4 38599054 38599057 VAR_024670 - Q9BXR5:p.Asn241His chr4 38598883 38598886 VAR_028126 - Q9BXR5:p.Val298Ile chr4 38598799 38598802 VAR_024671 - Q9BXR5:p.Met326Thr chr4 38598670 38598673 VAR_024672 - Q9BXR5:p.Ile369Leu chr4 38598634 38598637 VAR_024673 - Q9BXR5:p.Gly381Asp chr4 38598370 38598373 VAR_028127 - Q9BXR5:p.Arg469Gly chr4 38598358 38598361 VAR_028128 - Q9BXR5:p.Ile473Thr chr4 38598202 38598205 VAR_024674 - Q9BXR5:p.Arg525Trp chr4 38597569 38597572 VAR_028129 - Q9BXR5:p.Tyr736Cys chr4 38597452 38597455 VAR_028130 - Q9BXR5:p.Ile775Leu chr4 38597380 38597383 VAR_028131 - Q9BXR5:p.Arg799Gln chr4 154982894 154982897 VAR_026765 + O60603:p.Thr411Ile chr4 154983398 154983401 VAR_026766 + O60603:p.Arg579His chr4 154983554 154983557 VAR_024663 + O60603:p.Pro631His chr4 154983692 154983695 VAR_031236 + O60603:p.Arg677Trp chr4 154983920 154983923 VAR_031237 + O60603:p.Arg753Gln chr4 187379222 187379225 VAR_021976 + O15455:p.Leu412Phe chr4 187380197 187380200 VAR_024664 + O15455:p.Ser737Thr chr9 117554482 117554485 VAR_021977 + O00206:p.Thr175Ala chr9 117554521 117554524 VAR_018729 + O00206:p.Gln188Arg chr9 117554695 117554698 VAR_018730 + O00206:p.Cys246Ser chr9 117554854 117554857 VAR_012739 + O00206:p.Asp299Gly chr9 117554944 117554947 VAR_018731 + O00206:p.Asn329Ser chr9 117554983 117554986 VAR_020334 + O00206:p.Phe342Tyr chr9 117555112 117555115 VAR_037668 + O00206:p.Leu385Phe chr9 117555154 117555157 VAR_012740 + O00206:p.Thr399Ile chr9 117555157 117555160 VAR_020335 + O00206:p.Ser400Asn chr9 117555286 117555289 VAR_018732 + O00206:p.Phe443Leu chr9 117555379 117555382 VAR_018733 + O00206:p.Glu474Lys chr9 117555487 117555490 VAR_018734 + O00206:p.Gln510His chr9 117556039 117556042 VAR_018735 + O00206:p.Lys694Arg chr9 117556246 117556249 VAR_018736 + O00206:p.Arg763His chr9 117556459 117556462 VAR_018737 + O00206:p.Gln834His chrX 12663314 12663317 VAR_034554 + Q9NYK1:p.Gln11Leu chrX 12664625 12664628 VAR_024665 + Q9NYK1:p.Ala448Val chrX 12696843 12696846 VAR_024667 + Q9NR97:p.Met10Val chr3 52233356 52233359 VAR_024668 - Q9NR96:p.Arg5Cys chr3 52230782 52230785 VAR_034555 - Q9NR96:p.Arg863Gln chr3 52230668 52230671 VAR_036077 - Q9NR96:p.Arg901His chr3 52230572 52230575 VAR_036078 - Q9NR96:p.Thr933Met chr17 7280349 7280352 VAR_029595 + Q8N9M5:p.Ala110Val chr17 70296526 70296529 VAR_028831 + Q8NE00:p.Val58Met chr17 70344244 70344247 VAR_028832 + Q8NE00:p.Ala439Thr chr12 110838707 110838710 VAR_027659 - Q8NCL8:p.Cys22Gly chr12 42524988 42524991 VAR_027660 + Q9H0C3:p.Arg90His chr12 107488409 107488412 VAR_027663 - Q4V9L6:p.Ile72Thr chr1 43407804 43407807 VAR_035669 + Q96AQ2:p.Arg107Leu chr4 1687540 1687543 VAR_032803 - A0AVI4:p.Leu83Ile chr7 98090416 98090419 VAR_030740 - Q8N3G9:p.Glu407Val chr11 86709933 86709936 VAR_031789 + Q86UB9:p.Gly430Ala chr7 134306463 134306466 VAR_030262 + Q9NV12:p.Pro6Ser chr7 134306466 134306469 VAR_030263 + Q9NV12:p.Arg7Gln chr7 134306478 134306481 VAR_030264 + Q9NV12:p.Gln11Glu chr7 134306781 134306784 VAR_035670 + Q9NV12:p.Ala112Glu chr4 159511712 159511715 VAR_032544 + Q7Z5S9:p.Asp157Gly chr19 5717116 5717119 VAR_032270 + Q86XM0:p.Thr504Ala chr19 5729516 5729519 VAR_032271 + Q86XM0:p.Thr743Ser chr19 40922604 40922607 VAR_032775 - Q9H665:p.Trp189Arg chr16 21092884 21092887 VAR_030923 + Q96B96:p.Gly107Ser chr19 52241291 52241294 VAR_030600 - Q9NX00:p.Gly120Ser chrX 109222755 109222758 VAR_035671 + Q5U3C3:p.Tyr276His chr12 99838667 99838670 VAR_032453 + Q32M45:p.Gly115Ala chr11 22228914 22228917 VAR_023524 + Q75V66:p.Cys356Gly chr11 22228914 22228917 VAR_023525 + Q75V66:p.Cys356Arg chr12 44028113 44028116 VAR_028109 + Q4KMQ2:p.Ala128Thr chr2 241849504 241849507 VAR_032616 + Q6IWH7:p.Val67Ile chr5 138841260 138841263 VAR_029863 - Q86WV6:p.Arg71His chr5 138838101 138838104 VAR_029864 - Q86WV6:p.His232Arg chr5 138837164 138837167 VAR_029865 - Q86WV6:p.Arg293Gln chr2 120154743 120154746 VAR_031421 + Q53S58:p.Gly29Ala chr2 120154752 120154755 VAR_031422 + Q53S58:p.Ile32Val chr2 120155457 120155460 VAR_031423 + Q53S58:p.Asp267Glu chr2 39805083 39805086 VAR_032296 + Q8NBL3:p.Leu107Val chr17 23711937 23711940 VAR_033749 + Q8N511:p.Val158Ile chr17 23711961 23711964 VAR_033750 + Q8N511:p.Leu166Val chr1 208926996 208926999 VAR_035847 - Q9H813:p.Lys336Asn chr9 105615799 105615802 VAR_032811 + Q9NVV0:p.Cys254Ser chr3 120639474 120639477 VAR_036095 - Q9NV64:p.Ser247Leu chr3 120633523 120633526 VAR_030871 - Q9NV64:p.Ala487Thr chr1 158010519 158010522 VAR_035815 + Q969M1:p.Asp100Asn chr11 129227761 129227764 VAR_029866 + Q96B21:p.Thr59Ile chr1 25414845 25414848 VAR_013121 + O95807:p.Ala58Val chr1 25428652 25428655 VAR_007851 + O95807:p.Phe141Leu chr6 44223146 44223149 VAR_031192 + Q5T3F8:p.Val307Met chr14 76785475 76785478 VAR_031193 + Q9P1W3:p.Met654Val chr15 81567484 81567487 VAR_012844 + Q9BZW5:p.Ile17Thr chr15 81572634 81572637 VAR_024661 + Q9BZW5:p.Pro59Ser chr12 27039589 27039592 VAR_034556 - Q9NS93:p.Pro179Arg chr11 18680051 18680054 VAR_034564 + Q8N2M4:p.Val215Ala chr14 23732015 23732018 VAR_024662 - O15321:p.Arg215His chr2 218972306 218972309 VAR_017382 - Q969X1:p.Pro21Leu chr20 2540959 2540962 VAR_030621 + Q8TDI7:p.Ser573Cys chr20 2566131 2566134 VAR_030622 + Q8TDI7:p.Glu800Gln chr17 73633456 73633459 VAR_023963 - Q7Z403:p.Trp125Arg chr16 18928101 18928104 VAR_032278 + Q7Z402:p.Arg59Trp chr16 18949094 18949097 VAR_032279 + Q7Z402:p.Gly254Glu chr16 18975395 18975398 VAR_032280 + Q7Z402:p.Thr635Ile chr17 73642168 73642171 VAR_023964 + Q8IU68:p.Asn306Ile chr1 19843244 19843247 VAR_035169 - Q5TGY1:p.Gln72Lys chr1 19766298 19766301 VAR_035170 - Q5TGY1:p.Arg478His chr19 10806768 10806771 VAR_036533 - Q13445:p.Asp102Asn chr1 93332412 93332415 VAR_017150 - Q9Y3A6:p.Thr175Ile chr14 74712843 74712846 VAR_012051 - P49755:p.Ser64Tyr chr21 44303501 44303504 VAR_009514 + P48553:p.Val257Glu chr21 44327269 44327272 VAR_009515 + P48553:p.Ile633Met chr21 44327548 44327551 VAR_009516 + P48553:p.Val726Met chr9 71589786 71589789 VAR_032669 - Q9UHN6:p.Arg245Lys chr9 71589648 71589651 VAR_032670 - Q9UHN6:p.Arg291His chr9 71579399 71579402 VAR_032671 - Q9UHN6:p.Asp423Glu chr9 71562521 71562524 VAR_032672 - Q9UHN6:p.Pro765Ser chr9 71549228 71549231 VAR_032673 - Q9UHN6:p.Ile1010Val chr9 71534650 71534653 VAR_032674 - Q9UHN6:p.Ser1254Asn chr9 71534572 71534575 VAR_032675 - Q9UHN6:p.Gly1280Asp chrX 37068588 37068591 VAR_036268 + O14668:p.Phe60Ile chr19 54783609 54783612 VAR_020332 + O14669:p.Gly116Cys chr6 35881803 35881806 VAR_032055 + Q8TAF8:p.Tyr127Cys chr6 35890380 35890383 VAR_032056 + Q8TAF8:p.Thr165Met chr6 35890413 35890416 VAR_032057 + Q8TAF8:p.Arg176Leu chr19 4243838 4243841 VAR_030469 - Q96BF3:p.Ala202Pro chr9 128788839 128788842 VAR_032851 - Q9UPQ8:p.Cys99Ser chr9 128787813 128787816 VAR_032852 - Q9UPQ8:p.Tyr441Ser chr2 62644837 62644840 VAR_028864 - Q86X19:p.Gly26Ser chr11 118488643 118488646 VAR_028797 + O14523:p.Arg413Trp chr11 117908076 117908079 VAR_033623 + Q86YD3:p.Trp25Cys chr11 117910276 117910279 VAR_021391 + Q86YD3:p.Gln342Arg chr3 14149425 14149428 VAR_031751 + Q9BTV4:p.Lys168Asn chr3 14150261 14150264 VAR_031752 + Q9BTV4:p.Met179Thr chr3 14151383 14151386 VAR_031753 + Q9BTV4:p.Tyr233Cys chr3 14155749 14155752 VAR_031754 + Q9BTV4:p.Ala318Val chr3 195835169 195835172 VAR_031775 - Q2T9K0:p.His24Asn chr1 1881689 1881692 VAR_031653 - Q8NDY8:p.Met141Thr chr1 55163892 55163895 VAR_028820 + Q8N0U2:p.Glu40Lys chr8 75051169 75051172 VAR_027686 + Q9BUB7:p.Ala34Pro chr8 75056308 75056311 VAR_034565 + Q9BUB7:p.Asn228Lys chr8 75056374 75056377 VAR_027687 + Q9BUB7:p.Thr250Ala chr8 75056401 75056404 VAR_027688 + Q9BUB7:p.Asp259Glu chr1 153068528 153068531 VAR_028815 + Q9BSE2:p.Val147Met chr1 201784874 201784877 VAR_032353 - Q6P7N7:p.Arg77Gln chr1 201784805 201784808 VAR_032354 - Q6P7N7:p.Phe100Ser chr15 67160342 67160345 VAR_029860 + Q8NBB6:p.Val28Met chr17 7699246 7699249 VAR_027702 + Q6PEY1:p.Leu44Phe chr17 45711257 45711260 VAR_027704 + Q6UXU6:p.Ser90Asn chr17 45711257 45711260 VAR_027703 + Q6UXU6:p.Ser90Thr chr21 42683150 42683153 VAR_010781 - P57727:p.Val53Ile chr21 42682119 42682122 VAR_013490 - P57727:p.Asp103Gly chr21 42681699 42681702 VAR_013491 - P57727:p.Arg109Trp chr21 42681693 42681696 VAR_013492 - P57727:p.Gly111Ser chr21 42678639 42678642 VAR_013493 - P57727:p.Asp173Asn chr21 42677181 42677184 VAR_013494 - P57727:p.Cys194Phe chr21 42676344 42676347 VAR_025354 - P57727:p.Arg216Leu chr21 42676239 42676242 VAR_011678 - P57727:p.Trp251Cys chr21 42676233 42676236 VAR_013101 - P57727:p.Ile253Val chr21 42669028 42669031 VAR_011679 - P57727:p.Pro404Leu chr21 42669019 42669022 VAR_013495 - P57727:p.Cys407Arg chr21 42668962 42668965 VAR_013496 - P57727:p.Ala426Thr chr11 117483786 117483789 VAR_024293 + Q9NRS4:p.Arg177Gln chr11 113076010 113076013 VAR_038005 - Q9H3S3:p.Asp31Val chr11 113075593 113075596 VAR_038006 - Q9H3S3:p.Arg46Gln chr11 113073303 113073306 VAR_038007 - Q9H3S3:p.Val125Met chr11 113070447 113070450 VAR_038008 - Q9H3S3:p.Ala249Val chr11 113069015 113069018 VAR_038009 - Q9H3S3:p.Ala317Ser chr11 113066824 113066827 VAR_038010 - Q9H3S3:p.Pro337Ser chr11 113066261 113066264 VAR_038011 - Q9H3S3:p.Phe369Leu chr19 2340870 2340873 VAR_021508 + Q7Z410:p.Ser30Thr chr19 2347610 2347613 VAR_033650 + Q7Z410:p.Arg73Trp chr19 2373175 2373178 VAR_021509 + Q7Z410:p.Ser793Asn chr19 2376195 2376198 VAR_021510 + Q7Z410:p.Glu938Lys chr12 81792352 81792355 VAR_031113 + Q8N394:p.Ala315Thr chr12 81792736 81792739 VAR_031114 + Q8N394:p.Tyr443Ser chr13 100087876 100087879 VAR_031117 - Q5T4D3:p.Val286Met chr13 100085338 100085341 VAR_031118 - Q5T4D3:p.Val419Ile chr13 100062694 100062697 VAR_036455 - Q5T4D3:p.Met655Val chr13 107720556 107720559 VAR_013483 + Q9Y275:p.Ala105Thr chr14 102663186 102663189 VAR_038742 + Q03169:p.Ala110Ala chr14 102663702 102663705 VAR_020772 + Q03169:p.Gln282Glu chr14 102669598 102669601 VAR_020773 + Q03169:p.Thr565Ile chr14 102669807 102669810 VAR_020774 + Q03169:p.Thr580Met chr6 138237751 138237754 VAR_020447 + P21580:p.Ala125Val chr6 138237757 138237760 VAR_022143 + P21580:p.Phe127Cys chr6 138244071 138244074 VAR_029319 + P21580:p.Ala766Pro chr13 42078694 42078697 VAR_037424 + O14788:p.Met199Lys chr6 31652539 31652542 VAR_019378 + P01375:p.Pro84Leu chr6 31652569 31652570 VAR_011927 + P01375:p.Ala94Thr chr6 31652871 31652873 VAR_011927 + P01375:p.Ala94Thr chr6 31648534 31648537 VAR_013023 + P01374:p.Cys13Arg chr6 31648734 31648737 VAR_013024 + P01374:p.His51Pro chr6 31648761 31648764 VAR_007511 + P01374:p.Thr60Asn chr6 31649203 31649206 VAR_007512 + P01374:p.Thr125Pro chr6 31657384 31657386 VAR_013025 - Q06643:p.Gly70Glu chr6 31657569 31657570 VAR_013025 - Q06643:p.Gly70Glu chr6 31657342 31657345 VAR_016331 - Q06643:p.Ser84Arg chr6 31657333 31657336 VAR_016332 - Q06643:p.Leu87Phe chr6 31656866 31656869 VAR_013026 - Q06643:p.Ala111Pro chr6 31656833 31656836 VAR_029145 - Q06643:p.Ala122Asp chr19 6482095 6482098 VAR_011928 + P41273:p.Pro17Ala chr1 74509160 74509163 VAR_041223 + Q59H18:p.Asp252His chr1 74520650 74520653 VAR_041224 + Q59H18:p.Pro364Leu chr1 74520876 74520879 VAR_041225 + Q59H18:p.Phe410Leu chr1 74545635 74545638 VAR_041226 + Q59H18:p.Ser531Leu chr1 74547150 74547153 VAR_041227 + Q59H18:p.Val611Leu chr1 74617200 74617203 VAR_035639 + Q59H18:p.Arg730Gly chr1 74617224 74617227 VAR_041228 + Q59H18:p.Thr738Met chr1 74641189 74641192 VAR_041229 + Q59H18:p.Ile787Thr chr1 74717939 74717942 VAR_038821 + Q59H18:p.Ala886Gly chr1 74717978 74717981 VAR_041230 + Q59H18:p.Met899Ile chr1 74721675 74721678 VAR_038822 + Q59H18:p.Asp934Tyr chr3 52461276 52461279 VAR_019776 - P63316:p.Leu29Gln chr3 52460339 52460342 VAR_043988 - P63316:p.Gly159Arg chr11 1819327 1819330 VAR_016087 + P48788:p.Arg174Gln chr5 72180051 72180054 VAR_014455 + Q92973:p.Asp26Glu chr18 58143625 58143628 VAR_011516 + Q9Y6Q6:p.Leu21Leu chr18 58143625 58143628 VAR_011517 + Q9Y6Q6:p.Leu21Leu chr18 58178219 58178222 VAR_011518 + Q9Y6Q6:p.Ala192Val chr1 2528565 2528568 VAR_013007 - Q92956:p.Lys17Arg chr1 2525411 2525414 VAR_018955 - Q92956:p.Ala117Thr chr1 2524595 2524598 VAR_018956 - Q92956:p.Gly174Glu chr1 2522387 2522390 VAR_013440 - Q92956:p.Val241Ile chr17 44942816 44942819 VAR_020010 + P08138:p.Ser205Leu chr16 11967581 11967584 VAR_018755 + Q02223:p.Ala54Val chr16 11967614 11967617 VAR_018756 + Q02223:p.Ile65Val chr16 11967644 11967647 VAR_018757 + Q02223:p.Phe75Val chr16 11969106 11969109 VAR_012234 + Q02223:p.Ala153Thr chr16 11969142 11969145 VAR_018759 + Q02223:p.Cys165Ser chr13 23065504 23065507 VAR_024278 + Q9NS68:p.Ser31Thr chr13 23141203 23141206 VAR_024279 + Q9NS68:p.Val405Ile chr1 12187192 12187195 VAR_017176 + P20333:p.Val187Met chr1 12187219 12187222 VAR_015434 + P20333:p.Met196Arg chr1 12187327 12187330 VAR_015435 + P20333:p.Glu232Lys chr1 12187339 12187342 VAR_017177 + P20333:p.Ala236Thr chr1 12188279 12188282 VAR_017178 + P20333:p.Leu264Pro chr1 12188294 12188297 VAR_017179 + P20333:p.Thr269Pro chr1 12188923 12188926 VAR_017180 + P20333:p.Gln295Arg chr1 12196289 12196292 VAR_017181 + P20333:p.Pro301Arg chr1 6459856 6459859 VAR_018826 - Q93038:p.Arg23Gln chr1 6458765 6458768 VAR_018827 - Q93038:p.Asp159Gly chr1 6456482 6456485 VAR_018828 - Q93038:p.Pro254Arg chr1 6455903 6455906 VAR_011814 - Q93038:p.Arg370Leu chr1 6455870 6455873 VAR_011815 - Q93038:p.Arg381His chr1 1189400 1189403 VAR_025164 - P43489:p.Arg10Cys chr20 44183889 44183892 VAR_039301 + P25942:p.Cys26Gln chr20 44183916 44183919 VAR_039302 + P25942:p.Ser35Gly chr20 44183928 44183931 VAR_039303 + P25942:p.Ser39Thr chr20 44184394 44184397 VAR_013628 + P25942:p.Cys83Arg chr20 44184768 44184771 VAR_018751 + P25942:p.Ser124Leu chr20 44190930 44190933 VAR_018752 + P25942:p.Pro227Ala chr10 90752780 90752783 VAR_020008 + P25445:p.Ala16Thr chr10 90752807 90752810 VAR_013416 + P25445:p.Ala25Thr chr10 90752816 90752819 VAR_013417 + P25445:p.Thr28Ala chr10 90757483 90757486 VAR_013418 + P25445:p.Cys82Arg chr10 90758642 90758645 VAR_018321 + P25445:p.Asn118Ser chr10 90758651 90758654 VAR_013419 + P25445:p.Arg121Trp chr10 90758654 90758657 VAR_020009 + P25445:p.Thr122Ile chr10 90760515 90760518 VAR_018322 + P25445:p.Cys178Arg chr10 90760521 90760524 VAR_013420 + P25445:p.Leu180Phe chr10 90760530 90760533 VAR_013421 + P25445:p.Pro183Leu chr10 90761758 90761761 VAR_013422 + P25445:p.Thr198Ile chr10 90763872 90763875 VAR_013423 + P25445:p.Tyr232Cys chr10 90763899 90763902 VAR_013424 + P25445:p.Thr241Lys chr10 90763899 90763902 VAR_013425 + P25445:p.Thr241Pro chr10 90763926 90763929 VAR_013426 + P25445:p.Arg250Pro chr10 90763926 90763929 VAR_013427 + P25445:p.Arg250Gln chr10 90763941 90763944 VAR_018323 + P25445:p.Asn255Asp chr10 90763947 90763950 VAR_013428 + P25445:p.Ala257Asp chr10 90763956 90763959 VAR_013429 + P25445:p.Asp260Gly chr10 90763956 90763959 VAR_013431 + P25445:p.Asp260Val chr10 90763956 90763959 VAR_013430 + P25445:p.Asp260Tyr chr10 90763968 90763971 VAR_013432 + P25445:p.Asn264Lys chr10 90763986 90763989 VAR_013433 + P25445:p.Thr270Ile chr10 90763992 90763995 VAR_013434 + P25445:p.Glu272Gly chr10 90763992 90763995 VAR_013435 + P25445:p.Glu272Lys chr10 90764010 90764013 VAR_013436 + P25445:p.Leu278Phe chr10 90764073 90764076 VAR_013437 + P25445:p.Lys299Asn chr10 90764091 90764094 VAR_020942 + P25445:p.Thr305Ile chr10 90764106 90764109 VAR_013438 + P25445:p.Ile310Ser chr1 7933086 7933089 VAR_018920 - Q07011:p.Ala56Thr chr1 7932519 7932522 VAR_018921 - Q07011:p.Lys115Asn chr1 7929354 7929357 VAR_018922 - Q07011:p.Ala176Asp chr1 7915178 7915181 VAR_035478 - Q07011:p.Glu250Gly chr17 46295420 46295423 VAR_037840 - P50616:p.Lys319Arg chr1 176583729 176583732 VAR_025717 + Q5JTV8:p.Met146Thr chr1 176590118 176590121 VAR_035818 + Q5JTV8:p.Val190Ile chr1 176608643 176608646 VAR_025718 + Q5JTV8:p.Pro276Arg chr1 176609434 176609437 VAR_034566 + Q5JTV8:p.Gln293His chr11 1255003 1255006 VAR_034557 - Q9H0E2:p.Ala222Ser chr8 144463740 144463743 VAR_021863 - Q969P6:p.Arg525Trp chr20 39162109 39162112 VAR_036555 + P11387:p.Lys326Arg chr20 39162241 39162244 VAR_010666 + P11387:p.Met370Thr chr20 39176167 39176170 VAR_007530 + P11387:p.Asp533Gly chr20 39184177 39184180 VAR_010667 + P11387:p.Asn722Ser chr20 39184198 39184201 VAR_007531 + P11387:p.Thr729Ala chr17 35817894 35817897 VAR_007532 - P11388:p.Arg450Gln chr17 35817783 35817786 VAR_007533 - P11388:p.Arg487Lys chr17 35802111 35802114 VAR_029245 - P11388:p.Thr1324Lys chr17 18129269 18129272 VAR_007529 - Q13472:p.Cys596Tyr chr8 27735898 27735901 VAR_021162 - Q96KB5:p.Asn107Ser chr8 27724442 27724445 VAR_041234 - Q96KB5:p.Met241Leu chr9 32534060 32534063 VAR_037629 - Q9NS56:p.Ala154Thr chr9 32532971 32532974 VAR_037630 - Q9NS56:p.Glu517Lys chr9 32532275 32532278 VAR_037631 - Q9NS56:p.Asn749Asp chr9 32532086 32532089 VAR_037632 - Q9NS56:p.Pro812Arg chr9 129660452 129660455 VAR_020449 - O14656:p.Asp216His chr9 129656011 129656014 VAR_010788 - O14656:p.Asp264His chr9 129655894 129655897 VAR_010789 - O14656:p.303del chr1 175782956 175782959 VAR_025697 + Q9H497:p.Phe13Leu chr15 41555065 41555068 VAR_022172 - Q12888:p.Asp353Glu chr15 41549485 41549488 VAR_022173 - Q12888:p.Gly412Ser chr15 41536138 41536141 VAR_022174 - Q12888:p.Met648Val chr15 41535985 41535988 VAR_022175 - Q12888:p.Gln699Arg chr15 41535559 41535562 VAR_034558 - Q12888:p.Asp841Gly chr15 41521056 41521059 VAR_022176 - Q12888:p.Glu1014Gly chr15 41521020 41521023 VAR_022177 - Q12888:p.Val1026Ala chr15 41511935 41511938 VAR_022178 - Q12888:p.Lys1136Gln chr15 41511932 41511935 VAR_034559 - Q12888:p.Glu1137Lys chr15 41511833 41511836 VAR_022179 - Q12888:p.Ala1170Gly chr15 41511821 41511824 VAR_022180 - Q12888:p.Ile1174Val chr15 41500134 41500137 VAR_034560 - Q12888:p.Arg1442Gln chr15 41499996 41499999 VAR_038689 - Q12888:p.Gly1488Trp chr19 4603232 4603235 VAR_032048 + Q8WVP5:p.Ala118Val chr8 42168059 42168062 VAR_020181 - P00750:p.Ala34Asp chr8 42164203 42164206 VAR_038732 - P00750:p.Arg136Ser chr8 42164173 42164176 VAR_038733 - P00750:p.Ala146Thr chr8 42164119 42164122 VAR_011783 - P00750:p.Arg164Trp chr11 68596734 68596737 VAR_030492 + Q8NHX9:p.Lys376Arg chr11 68607988 68607991 VAR_030493 + Q8NHX9:p.Leu564Pro chr11 68611937 68611940 VAR_030494 + Q8NHX9:p.Gly734Glu chr6 125592010 125592013 VAR_034568 + Q16890:p.Arg62Lys chr18 32652878 32652881 VAR_027410 - Q68CL5:p.Arg47Cys chr12 70711589 70711592 VAR_026749 + Q8IWU9:p.Arg441His chr12 6848296 6848299 VAR_007534 + P60174:p.Cys42Tyr chr12 6848389 6848392 VAR_007535 + P60174:p.Gly73Ala chr12 6848596 6848599 VAR_007536 + P60174:p.Glu105Asp chr12 6848724 6848727 VAR_007537 + P60174:p.Gly123Arg chr12 6849117 6849120 VAR_007538 + P60174:p.Val155Met chr12 6849165 6849168 VAR_007539 + P60174:p.Ile171Val chr12 6849751 6849754 VAR_007540 + P60174:p.Val232Met chr12 6849778 6849781 VAR_007541 + P60174:p.Phe241Leu chr15 61123281 61123284 VAR_043986 + P09493:p.Glu40Lys chr15 61123323 61123326 VAR_043987 + P09493:p.Glu54Lys chr15 61123350 61123353 VAR_013135 + P09493:p.Ala63Val chr15 61140150 61140153 VAR_007601 + P09493:p.Asp175Asn chr15 61140165 61140168 VAR_007602 + P09493:p.Glu180Gly chr15 61140165 61140168 VAR_029452 + P09493:p.Glu180Val chr9 35675744 35675747 VAR_016086 - P07951:p.Arg91Gly chr9 35675666 35675669 VAR_013468 - P07951:p.Glu117Ala chr9 35675481 35675484 VAR_013469 - P07951:p.Gln147Pro chr19 16065508 16065511 VAR_036535 + P67936:p.Glu204Gln chr6 18256118 18256121 VAR_005636 - P51580:p.Leu49Ser chr6 18251931 18251934 VAR_005637 - P51580:p.Ala80Pro chr6 18247204 18247207 VAR_005638 - P51580:p.Ala154Thr chr6 18242053 18242056 VAR_005639 - P51580:p.Tyr180Phe chr6 18238970 18238973 VAR_008715 - P51580:p.Arg215His chr6 18238934 18238937 VAR_005640 - P51580:p.His227Gln chr6 18238895 18238898 VAR_005641 - P51580:p.Tyr240Cys chr1 43472954 43472957 VAR_011988 + P40238:p.Ala58Val chr1 43474144 43474147 VAR_011989 + P40238:p.Glu168Lys chr3 185576476 185576479 VAR_011795 - P40225:p.Leu14Pro chr3 185573952 185573955 VAR_011796 - P40225:p.Gly116Glu chr11 6596625 6596628 VAR_037572 - O14773:p.Ser62Leu chr11 6595512 6595515 VAR_009604 - O14773:p.Gln100Arg chr11 6595156 6595159 VAR_016791 - O14773:p.Ser153Pro chr11 6594943 6594946 VAR_005642 - O14773:p.Arg175His chr11 6594913 6594916 VAR_037573 - O14773:p.Arg185Cys chr11 6594850 6594853 VAR_009605 - O14773:p.Arg206Cys chr11 6594850 6594853 VAR_016792 - O14773:p.Arg206His chr11 6594522 6594525 VAR_016793 - O14773:p.Val277Met chr11 6594519 6594522 VAR_016794 - O14773:p.Gln278Pro chr11 6594501 6594504 VAR_016795 - O14773:p.Gly284Val chr11 6594495 6594498 VAR_016796 - O14773:p.Asn286Ser chr11 6594492 6594495 VAR_009606 - O14773:p.Ile287Asn chr11 6594167 6594170 VAR_009607 - O14773:p.Glu343Lys chr11 6594137 6594140 VAR_016797 - O14773:p.Thr353Pro chr11 6593861 6593864 VAR_005643 - O14773:p.Cys365Arg chr11 6593861 6593864 VAR_005644 - O14773:p.Cys365Tyr chr11 6593359 6593362 VAR_009608 - O14773:p.Val385Asp chr11 6593347 6593350 VAR_009609 - O14773:p.Gly389Glu chr11 6593248 6593251 VAR_009610 - O14773:p.Gln422His chr11 6593118 6593121 VAR_016798 - O14773:p.Lys428Asn chr11 6593061 6593064 VAR_005645 - O14773:p.Arg447His chr11 6593040 6593043 VAR_009611 - O14773:p.Ala454Glu chr11 6592983 6592986 VAR_016799 - O14773:p.Gly473Arg chr11 6592977 6592980 VAR_009612 - O14773:p.Ser475Leu chr11 6592780 6592783 VAR_016800 - O14773:p.Phe481Cys chr17 7774699 7774702 VAR_013028 - Q9Y5R8:p.Arg129Gly chrX 13494406 13494409 VAR_012358 - O14582:p.Asp47Tyr chrX 13494328 13494331 VAR_012359 - O14582:p.Ser73Leu chrX 13493854 13493857 VAR_012361 - O14582:p.Phe83Ser chrX 13492215 13492218 VAR_012360 - O14582:p.Val130Asp chr12 6433028 6433031 VAR_033627 + Q9BX59:p.Gly151Arg chr21 9973150 9973153 VAR_036516 - P56180:p.Arg144Gln chr20 29835361 29835364 VAR_036269 + Q9ULW0:p.Thr464Asn chr8 23138420 23138423 VAR_016149 - O00220:p.Thr33Ile chr8 23116199 23116202 VAR_016150 - O00220:p.His141Arg chr8 23115267 23115270 VAR_016151 - O00220:p.Arg209Thr chr8 23114163 23114166 VAR_016152 - O00220:p.Glu228Ala chr8 22982256 22982259 VAR_016153 - O14763:p.Pro32Leu chr8 22956644 22956647 VAR_016154 - O14763:p.Ala67Val chr8 23077288 23077291 VAR_011417 - Q9UBN6:p.Pro35Ser chr8 120014438 120014441 VAR_018957 - O00300:p.Val104Met chr8 120010203 120010206 VAR_019413 - O00300:p.182del chr17 16792909 16792912 VAR_024027 - O14836:p.Cys104Arg chr17 16784452 16784455 VAR_024028 - O14836:p.Ala181Gly chr17 16784389 16784392 VAR_024029 - O14836:p.Arg202His chr1 36421524 36421527 VAR_024552 + Q9Y2W1:p.Ala201Val chr11 72783374 72783377 VAR_022614 + Q969Z4:p.Ala332Val chr17 24099460 24099463 VAR_025805 + Q9BUZ4:p.Ala173Thr chr1 207922450 207922453 VAR_020117 + O00463:p.Asn186His chr16 3664463 3664466 VAR_016108 - Q12931:p.Arg307Gly chr20 22978012 22978015 VAR_011368 - P07204:p.Ala43Thr chr20 22977904 22977907 VAR_011369 - P07204:p.Gly79Ala chr20 22976722 22976725 VAR_011370 - P07204:p.Ala473Val chr20 22976683 22976686 VAR_011371 - P07204:p.Asp486Tyr chr20 22976656 22976659 VAR_011372 - P07204:p.Pro495Ser chr20 22976638 22976641 VAR_011373 - P07204:p.Pro501Leu chr6 41358441 41358444 VAR_019333 - Q9NP99:p.Thr25Ser chr6 41358225 41358228 VAR_035525 - Q9NP99:p.Arg97Ser chr6 41351903 41351906 VAR_033624 - Q9NP99:p.Phe214Leu chr6 41235587 41235590 VAR_019334 - Q9NZC2:p.Asp134Gly chr6 41235518 41235521 VAR_033625 - Q9NZC2:p.His157Tyr chr6 41234706 41234709 VAR_019335 - Q9NZC2:p.Lys186Asn chr6 41234631 41234634 VAR_033626 - Q9NZC2:p.Leu211Pro chr3 48483109 48483112 VAR_037948 + Q9NSU2:p.Asp73Asn chr3 48483397 48483400 VAR_028319 + Q9NSU2:p.Arg169His chr3 48483529 48483532 VAR_037949 + Q9NSU2:p.Ala213Val chr3 48483655 48483658 VAR_028320 + Q9NSU2:p.Asp255Asp chr3 48483655 48483658 VAR_032940 + Q9NSU2:p.Asp255Asn chr3 48483658 48483661 VAR_028321 + Q9NSU2:p.Val256Asp chr3 48483736 48483739 VAR_037950 + Q9NSU2:p.Gly282Ser chr3 48483775 48483778 VAR_037951 + Q9NSU2:p.Arg295Ser chr3 48483796 48483799 VAR_037952 + Q9NSU2:p.Ala302Pro chr3 48483853 48483856 VAR_037953 + Q9NSU2:p.Glu321Gly chr3 48483925 48483928 VAR_037954 + Q9NSU2:p.Pro345Leu chr3 48483970 48483973 VAR_037955 + Q9NSU2:p.Tyr360Cys chr3 48483973 48483976 VAR_037956 + Q9NSU2:p.Gly361Ala chr3 134950033 134950036 VAR_034569 + P02787:p.Arg42Leu chr3 134950072 134950075 VAR_029280 + P02787:p.Ser55Arg chr3 134955145 134955148 VAR_034570 + P02787:p.Ala76Val chr3 134955148 134955151 VAR_038810 + P02787:p.Asp77Asn chr3 134956134 134956137 VAR_011997 + P02787:p.Gly142Ser chr3 134958509 134958512 VAR_011998 + P02787:p.Gly277Ser chr3 134959325 134959328 VAR_007544 + P02787:p.Asp296Gly chr3 134959394 134959397 VAR_007545 + P02787:p.His319Arg chr3 134960796 134960799 VAR_011999 + P02787:p.Trp377Cys chr3 134967917 134967920 VAR_012997 + P02787:p.Ala477Pro chr3 134972110 134972113 VAR_034571 + P02787:p.Gly562Val chr3 134977051 134977054 VAR_012000 + P02787:p.Pro589Ser chr3 134978650 134978653 VAR_012001 + P02787:p.Thr645Pro chr3 134978653 134978656 VAR_012998 + P02787:p.Lys646Glu chr3 134978728 134978731 VAR_012999 + P02787:p.Gly671Glu chr3 198232301 198232304 VAR_020413 - P08582:p.Arg294Trp chr8 110168944 110168947 VAR_011857 + P34981:p.Asn10Lys chr3 131177378 131177381 VAR_014787 + P20396:p.Leu8Val chr13 49485139 49485142 VAR_013512 + O60858:p.Ser355Thr chrX 10237440 10237443 VAR_013759 - O15344:p.438del chr17 52346081 52346084 VAR_024614 - Q14258:p.Val89Gly chr11 119494225 119494228 VAR_035962 - Q14134:p.Ser514Phe chr6 30188207 30188210 VAR_022728 - Q9BZY9:p.Arg118Cys chr6 30186251 30186254 VAR_022729 - Q9BZY9:p.Val232Ile chr6 30179306 30179309 VAR_019962 - Q9BZY9:p.Glu421Lys chr9 116539962 116539965 VAR_038807 + Q13049:p.Pro130Ser chr9 116540343 116540346 VAR_038808 + Q13049:p.Thr257Arg chr9 116540754 116540757 VAR_042939 + Q13049:p.Arg394His chr9 116540796 116540799 VAR_038809 + Q13049:p.Arg408Cys chr9 116541033 116541036 VAR_018725 + Q13049:p.Asp487Asn chr9 116541336 116541339 VAR_042940 + Q13049:p.588del chr1 114765538 114765541 VAR_029494 - Q9UPN9:p.Val67Ala chr1 114679374 114679377 VAR_042376 - Q9UPN9:p.Met580Ile chr1 114664953 114664956 VAR_042377 - Q9UPN9:p.Leu696Ser chr1 114660408 114660411 VAR_042378 - Q9UPN9:p.Glu811Lys chr1 114660186 114660189 VAR_042379 - Q9UPN9:p.Pro885Ser chr1 114657432 114657435 VAR_042380 - Q9UPN9:p.Val961Met chr1 114652425 114652428 VAR_042381 - Q9UPN9:p.Pro1090Thr chr11 5620263 5620266 VAR_019825 + Q9BYJ4:p.Thr276Ser chr11 5620281 5620284 VAR_019826 + Q9BYJ4:p.Asp282His chr5 114497705 114497708 VAR_023197 - Q9NQ86:p.Lys428Arg chr5 114497621 114497624 VAR_023198 - Q9NQ86:p.Asn456Ser chr5 180583836 180583839 VAR_027914 + Q8WV44:p.Ala78Thr chr5 180593799 180593802 VAR_027915 + Q8WV44:p.Asp438Gly chr3 141889644 141889647 VAR_034468 + Q8IWZ5:p.Val475Met chr3 141889956 141889959 VAR_034469 + Q8IWZ5:p.Ala579Glu chr1 117372794 117372797 VAR_019931 - Q9H8W5:p.Cys375Tyr chr1 117371392 117371395 VAR_019932 - Q9H8W5:p.Arg413Gln chr1 117368128 117368131 VAR_019933 - Q9H8W5:p.Met496Thr chr7 72183412 72183415 VAR_020491 - Q86XT4:p.Leu8Pro chr1 244346595 244346598 VAR_030036 + Q8NG06:p.Trp3Ser chr1 244365334 244365337 VAR_030037 + Q8NG06:p.Val322Ile chr1 244365490 244365493 VAR_030038 + Q8NG06:p.Thr374Met chr1 26069142 26069145 VAR_020116 - Q969Q1:p.Lys237Glu chr11 4578213 4578216 VAR_027415 - Q6AZZ1:p.Cys442Tyr chr20 316831 316834 VAR_042372 + Q96RU7:p.Thr60Ile chr20 316903 316906 VAR_023965 + Q96RU7:p.Gln84Arg chr20 320095 320098 VAR_042373 + Q96RU7:p.Arg153His chr20 325076 325079 VAR_042374 + Q96RU7:p.Arg274His chr20 325295 325298 VAR_042375 + Q96RU7:p.Glu347Lys chr11 5657854 5657857 VAR_017397 - Q9C035:p.His43Tyr chr11 5657647 5657650 VAR_030154 - Q9C035:p.Val112Phe chr11 5657575 5657578 VAR_017398 - Q9C035:p.Arg136Gln chr11 5645514 5645517 VAR_030155 - Q9C035:p.Gly249Asp chr11 5642839 5642842 VAR_030156 - Q9C035:p.His419Tyr chr11 5642659 5642662 VAR_030157 - Q9C035:p.Pro479Leu chr5 180564662 180564665 VAR_017399 - Q9C029:p.Ala18Ser chr5 180564497 180564500 VAR_017400 - Q9C029:p.Pro73Ser chr5 180564431 180564434 VAR_017401 - Q9C029:p.Gln95Glu chr14 50515965 50515968 VAR_016202 - Q9C026:p.Leu653Phe chr4 189435921 189435924 VAR_035963 + Q8N9V2:p.Asp21His chr7 100112902 100112905 VAR_013309 + Q15654:p.Leu296Phe chr6 126371238 126371241 VAR_025786 + Q7Z4G4:p.Leu230Gln chr14 103066263 103066266 VAR_026053 + Q96FX7:p.Val66Ala chr6 41229986 41229989 VAR_035526 - Q86YW5:p.Leu6Val chr6 41304582 41304585 VAR_035390 + Q6UXN2:p.Trp73Arg chr6 41305277 41305280 VAR_035391 + Q6UXN2:p.Thr146Lys chr6 41305833 41305836 VAR_035392 + Q6UXN2:p.Thr168Ile chr14 60515717 60515720 VAR_028898 - Q32P41:p.Ser217Pro chr14 60514011 60514014 VAR_028899 - Q32P41:p.Leu255Pro chr14 60512507 60512510 VAR_028900 - Q32P41:p.Glu294Ala chr22 45052207 45052210 VAR_027268 + O75648:p.Ala10Ser chr8 73140254 73140257 VAR_020661 - O75762:p.Glu179Lys chr8 73098697 73098700 VAR_020663 - O75762:p.His1018Arg chr13 37218556 37218559 VAR_036452 - Q9UBN4:p.Glu138Lys chr11 100880573 100880576 VAR_026730 - Q9Y210:p.Pro112Gln chr11 100880480 100880483 VAR_026731 - Q9Y210:p.Asn143Ser chr11 100880438 100880441 VAR_038419 - Q9Y210:p.Asn157Thr chr11 100880099 100880102 VAR_026732 - Q9Y210:p.Ser270Thr chr11 100829006 100829009 VAR_026733 - Q9Y210:p.Arg895Cys chr11 100829000 100829003 VAR_026734 - Q9Y210:p.Glu897Lys chr21 44598164 44598167 VAR_025216 + O94759:p.Asn52Lys chr21 44611136 44611139 VAR_025217 + O94759:p.Val166Ile chr21 44623445 44623448 VAR_025218 + O94759:p.Val385Met chr21 44635768 44635771 VAR_020032 + O94759:p.Asp543Glu chr21 44646007 44646010 VAR_025219 + O94759:p.Asp780Glu chr21 44669177 44669180 VAR_025220 + O94759:p.Gln1189Arg chr21 44669207 44669210 VAR_025221 + O94759:p.Arg1199Trp chr21 44669213 44669216 VAR_025222 + O94759:p.Ser1201Gly chr21 44670087 44670090 VAR_025223 + O94759:p.Asn1249Ser chr21 44679505 44679508 VAR_025224 + O94759:p.Thr1347Met chr21 44681385 44681388 VAR_025225 + O94759:p.Glu1359Lys chr21 44681412 44681415 VAR_025226 + O94759:p.Ile1368Met chr21 44685141 44685144 VAR_025227 + O94759:p.Ala1438Ser chr9 74686740 74686743 VAR_042387 - Q9BX84:p.Gly75Val chr9 74684614 74684617 VAR_019963 - Q9BX84:p.Ser141Leu chr9 74664893 74664896 VAR_042388 - Q9BX84:p.Met338Ile chr9 74627221 74627224 VAR_042389 - Q9BX84:p.Trp1007Cys chr9 74620542 74620545 VAR_019964 - Q9BX84:p.Asn1071Asp chr9 74607411 74607414 VAR_042390 - Q9BX84:p.His1243Arg chr9 74607318 74607321 VAR_042391 - Q9BX84:p.Gln1274Arg chr9 74606961 74606964 VAR_019965 - Q9BX84:p.Val1393Ile chr9 74606198 74606201 VAR_019966 - Q9BX84:p.Lys1584Glu chr9 74596755 74596758 VAR_042392 - Q9BX84:p.Gln1663Arg chr9 74595171 74595174 VAR_042393 - Q9BX84:p.Leu1673Ser chr9 74587058 74587061 VAR_042394 - Q9BX84:p.Thr1724Ile chr15 48728292 48728295 VAR_042395 - Q96QT4:p.Gly68Val chr15 48707724 48707727 VAR_042396 - Q96QT4:p.Ser406Cys chr15 48703717 48703720 VAR_042397 - Q96QT4:p.Ile459Thr chr15 48693243 48693246 VAR_042398 - Q96QT4:p.Lys574Asn chr15 48690701 48690704 VAR_042399 - Q96QT4:p.Thr720Ser chr15 48689159 48689162 VAR_042400 - Q96QT4:p.Met830Val chr15 48684495 48684498 VAR_042401 - Q96QT4:p.Phe949Tyr chr15 48675841 48675844 VAR_042402 - Q96QT4:p.Gln1064Arg chr15 48672090 48672093 VAR_042403 - Q96QT4:p.Ile1211Thr chr15 48671961 48671964 VAR_042404 - Q96QT4:p.Ala1254Val chr15 48671805 48671808 VAR_042405 - Q96QT4:p.Asp1306Glu chr15 48669137 48669140 VAR_042406 - Q96QT4:p.Arg1444Lys chr15 48665920 48665923 VAR_019967 - Q96QT4:p.Thr1482Ile chr8 116685369 116685372 VAR_038197 - Q9UHF7:p.Ser654Leu chr8 116499835 116499838 VAR_012807 - Q9UHF7:p.Val894Asp chr8 116499814 116499817 VAR_012808 - Q9UHF7:p.Thr901Pro chr8 116499793 116499796 VAR_012809 - Q9UHF7:p.Arg908Pro chr8 116499793 116499796 VAR_012810 - Q9UHF7:p.Arg908Gln chr8 116499760 116499763 VAR_012811 - Q9UHF7:p.Ala919Thr chr8 116496416 116496419 VAR_038198 - Q9UHF7:p.Arg952Cys chr8 116496416 116496419 VAR_038199 - Q9UHF7:p.Arg952His chr11 63749899 63749902 VAR_030134 - Q86TN4:p.Phe3Leu chr11 63748375 63748378 VAR_030135 - Q86TN4:p.His172Arg chr11 63748154 63748157 VAR_030136 - Q86TN4:p.Arg221Cys chr17 16261755 16261758 VAR_024678 + Q9Y5S1:p.Gly17Ala chr7 142147369 142147372 VAR_022247 - Q9NQA5:p.Ala8Val chr7 142143384 142143387 VAR_022248 - Q9NQA5:p.Arg154His chr7 142126583 142126586 VAR_022249 - Q9NQA5:p.Ala563Thr chr7 142122570 142122573 VAR_022250 - Q9NQA5:p.Leu712Phe chr7 142091747 142091750 VAR_022251 - Q9H1D0:p.Cys157Arg chr7 142089742 142089745 VAR_022252 - Q9H1D0:p.Met378Val chr7 142086431 142086434 VAR_022253 - Q9H1D0:p.Met681Thr chr7 98164035 98164038 VAR_028359 + Q9Y4A5:p.Arg878Leu chr7 98164080 98164083 VAR_041658 + Q9Y4A5:p.Arg893Cys chr7 98172294 98172297 VAR_041659 + Q9Y4A5:p.Ser1070Gly chr7 98192005 98192008 VAR_041660 + Q9Y4A5:p.Arg1669His chr7 98192392 98192395 VAR_041661 + Q9Y4A5:p.Arg1724His chr7 98197434 98197437 VAR_041662 + Q9Y4A5:p.Ala1925Val chr7 98197455 98197458 VAR_041663 + Q9Y4A5:p.Pro1932Leu chr7 98197500 98197503 VAR_041664 + Q9Y4A5:p.Arg1947Leu chr7 98201710 98201713 VAR_041665 + Q9Y4A5:p.Trp2139Gly chr7 98206997 98207000 VAR_041666 + Q9Y4A5:p.Arg2302Trp chr7 98209777 98209780 VAR_041667 + Q9Y4A5:p.Ser2433Gly chr7 98218885 98218888 VAR_041668 + Q9Y4A5:p.Pro2690Leu chr7 98219233 98219236 VAR_041669 + Q9Y4A5:p.Glu2750Asp chr7 98220520 98220523 VAR_041670 + Q9Y4A5:p.Lys2801Glu chr7 98224219 98224222 VAR_041671 + Q9Y4A5:p.Thr2931Met chr12 131083042 131083045 VAR_036447 + Q9Y606:p.Asp133Asn chr12 131083075 131083078 VAR_021788 + Q9Y606:p.Arg144Trp chr10 116709531 116709534 VAR_027748 + Q8WWH5:p.Arg167Lys chr9 128159021 128159024 VAR_027749 - O95900:p.Val93Leu chr7 141944699 141944702 VAR_011693 + P07477:p.Ala16Val chr7 141944717 141944720 VAR_011652 + P07477:p.Asp22Gly chr7 141944720 141944723 VAR_011653 + P07477:p.Lys23Arg chr7 141944738 141944741 VAR_006720 + P07477:p.Asn29Ile chr7 141944738 141944741 VAR_012712 + P07477:p.Asn29Thr chr7 141944813 141944816 VAR_037908 + P07477:p.Asn54Ser chr7 141945947 141945950 VAR_037909 + P07477:p.Glu79Lys chr7 141946022 141946025 VAR_011654 + P07477:p.Leu104Pro chr7 141946058 141946061 VAR_011655 + P07477:p.Arg116Cys chr7 141946076 141946079 VAR_012713 + P07477:p.Arg122Cys chr7 141946076 141946079 VAR_006721 + P07477:p.Arg122His chr7 141946121 141946124 VAR_036299 + P07477:p.Thr137Met chr7 141946127 141946130 VAR_011656 + P07477:p.Cys139Phe chr16 1230991 1230994 VAR_014557 + Q15661:p.Ala18Val chr16 1231159 1231162 VAR_014558 + Q15661:p.Gly23Val chr16 1231454 1231457 VAR_014559 + Q15661:p.Ala85Thr chr16 1231595 1231598 VAR_016102 + Q15661:p.Asn132Lys chr16 1231622 1231625 VAR_014560 + Q15661:p.Thr141Ala chr16 1231685 1231688 VAR_014561 + Q15661:p.Asp162Asn chr16 1231836 1231839 VAR_014562 + Q15661:p.Pro170Ser chr16 1231971 1231974 VAR_014563 + Q15661:p.Thr215Ser chr16 1231974 1231977 VAR_014564 + Q15661:p.Arg216Gln chr16 1246333 1246336 VAR_016871 + Q9BZJ3:p.Val18Ala chr16 1246660 1246663 VAR_016872 + Q9BZJ3:p.Val76Met chr16 1212785 1212788 VAR_012098 - Q9NRR2:p.Ile126Met chr16 1212767 1212770 VAR_012099 - Q9NRR2:p.Ser132Thr chr16 1212683 1212686 VAR_025012 - Q9NRR2:p.Trp160Ser chr16 1212241 1212244 VAR_012100 - Q9NRR2:p.Leu204Ile chr11 18485026 18485029 VAR_034572 - Q99816:p.Met167Ile chr1 6569496 6569499 VAR_036707 + Q7RTX1:p.Lys347Glu chr1 6569571 6569574 VAR_036708 + Q7RTX1:p.Ala372Thr chr1 6571320 6571323 VAR_036709 + Q7RTX1:p.Arg507Gln chr1 18931433 18931436 VAR_027901 - Q8TE23:p.Ser9Cys chr1 18912196 18912199 VAR_020787 - Q8TE23:p.Ala574Thr chr1 18911404 18911407 VAR_027902 - Q8TE23:p.Arg838Lys chr1 1309476 1309479 VAR_020788 + Q7RTX0:p.Cys757Arg chr9 132832198 132832201 VAR_009397 - Q92574:p.Glu51Asp chr9 132826852 132826855 VAR_009398 - Q92574:p.Arg190Ser chr9 132826849 132826852 VAR_009399 - Q92574:p.Leu191His chr9 132826825 132826831 VAR_009400 - Q92574:p.Asn198_Phe199delinsIle chr9 132826368 132826371 VAR_009401 - Q92574:p.Met224Arg chr9 132816456 132816459 VAR_009402 - Q92574:p.Met322Thr chr9 132815523 132815526 VAR_009403 - Q92574:p.Thr417Ile chr9 132810787 132810790 VAR_009404 - Q92574:p.Glu577Asp chr9 132810751 132810763 VAR_009405 - Q92574:p.Cys586_Pro589delinsSer chr9 132810757 132810760 VAR_009406 - Q92574:p.Lys587Arg chr9 132810556 132810559 VAR_009407 - Q92574:p.Gln654Glu chr9 132808621 132808624 VAR_009408 - Q92574:p.Ala726Glu chr9 132808603 132808606 VAR_009409 - Q92574:p.His732Tyr chr9 132806604 132806607 VAR_009410 - Q92574:p.Glu809Gln chr9 132806544 132806547 VAR_009411 - Q92574:p.Ser829Arg chr9 132802479 132802482 VAR_009412 - Q92574:p.Thr899Ser chr9 132801565 132801568 VAR_009413 - Q92574:p.Gly1035Ser chr9 132801346 132801349 VAR_009414 - Q92574:p.Gly1108Ser chr2 88665226 88665229 VAR_035142 + Q96LM6:p.Asp24Asn chr16 2044369 2044372 VAR_009415 + P49815:p.His137Arg chr16 2044438 2044441 VAR_009416 + P49815:p.Leu160Val chr16 2046675 2046678 VAR_008020 + P49815:p.Cys227Tyr chr16 2046768 2046771 VAR_009417 + P49815:p.Lys258Asn chr16 2047112 2047115 VAR_009418 + P49815:p.Arg261Pro chr16 2047112 2047115 VAR_009419 + P49815:p.Arg261Trp chr16 2048755 2048758 VAR_009420 + P49815:p.Met286Thr chr16 2048755 2048758 VAR_009421 + P49815:p.Met286Val chr16 2048773 2048776 VAR_005646 + P49815:p.Leu292Pro chr16 2048779 2048782 VAR_009422 + P49815:p.Gly294Glu chr16 2048809 2048812 VAR_009423 + P49815:p.Trp304Trp chr16 2048824 2048827 VAR_009424 + P49815:p.Leu309Gln chr16 2050686 2050689 VAR_008021 + P49815:p.Asn331Lys chr16 2050776 2050779 VAR_009426 + P49815:p.Leu361Pro chr16 2050788 2050791 VAR_009427 + P49815:p.365del chr16 2050794 2050797 VAR_009428 + P49815:p.Arg367Gln chr16 2051884 2051887 VAR_009429 + P49815:p.Pro378Leu chr16 2051971 2051974 VAR_005647 + P49815:p.Tyr407Asp chr16 2052558 2052561 VAR_009430 + P49815:p.Gly440Ser chr16 2052585 2052588 VAR_005648 + P49815:p.Met449Ile chr16 2052998 2053001 VAR_009431 + P49815:p.Ile463Val chr16 2054285 2054288 VAR_008022 + P49815:p.Asn486Ile chr16 2054297 2054300 VAR_008023 + P49815:p.Ile490Val chr16 2054402 2054405 VAR_009432 + P49815:p.Asn525Ser chr16 2055526 2055529 VAR_008024 + P49815:p.Ala536Val chr16 2060487 2060490 VAR_009433 + P49815:p.Ala583Thr chr16 2060517 2060520 VAR_009434 + P49815:p.His593Arg chr16 2060535 2060538 VAR_009435 + P49815:p.Lys599Met chr16 2060559 2060562 VAR_005649 + P49815:p.Ala607Thr chr16 2060571 2060574 VAR_005650 + P49815:p.Arg611Gln chr16 2060571 2060574 VAR_005651 + P49815:p.Arg611Trp chr16 2061511 2061514 VAR_009436 + P49815:p.Ala614Asp chr16 2061514 2061517 VAR_008025 + P49815:p.Phe615Ser chr16 2061610 2061613 VAR_009437 + P49815:p.Asp647Asn chr16 2061918 2061921 VAR_009438 + P49815:p.694del chr16 2061924 2061927 VAR_009439 + P49815:p.Cys696Tyr chr16 2062293 2062296 VAR_009440 + P49815:p.Leu717Arg chr16 2062934 2062937 VAR_009441 + P49815:p.Val769Glu chr16 2064291 2064294 VAR_008026 + P49815:p.Pro816Leu chr16 2064321 2064324 VAR_005652 + P49815:p.Leu826Met chr16 2065838 2065841 VAR_018600 + P49815:p.Ala862Val chr16 2066112 2066115 VAR_009442 + P49815:p.Met895Val chr16 2066142 2066145 VAR_005653 + P49815:p.Arg905Gln chr16 2066142 2066145 VAR_005654 + P49815:p.Arg905Trp chr16 2067648 2067651 VAR_009443 + P49815:p.Val963Met chr16 2069145 2069148 VAR_022919 + P49815:p.Leu1027Pro chr16 2069395 2069398 VAR_005655 + P49815:p.Asp1084Glu chr16 2070198 2070201 VAR_008027 + P49815:p.Val1144Met chr16 2070366 2070369 VAR_005656 + P49815:p.Arg1200Trp chr16 2071664 2071667 VAR_005657 + P49815:p.Pro1227Leu chr16 2071703 2071706 VAR_005658 + P49815:p.Arg1240Trp chr16 2072466 2072469 VAR_009444 + P49815:p.Ser1282Gly chr16 2072505 2072506 VAR_005659 + P49815:p.Asp1295Val chr16 2073696 2073698 VAR_005659 + P49815:p.Asp1295Val chr16 2073755 2073758 VAR_008028 + P49815:p.Pro1315Ser chr16 2073797 2073800 VAR_008029 + P49815:p.Arg1329His chr16 2074244 2074247 VAR_022920 + P49815:p.Ser1341Arg chr16 2074508 2074511 VAR_018601 + P49815:p.Ala1429Ser chr16 2074571 2074574 VAR_018602 + P49815:p.Pro1450Arg chr16 2074712 2074715 VAR_009445 + P49815:p.Pro1497Arg chr16 2074715 2074717 VAR_009446 + P49815:p.Ser1498Asn chr16 2074952 2074953 VAR_009446 + P49815:p.Ser1498Asn chr16 2074983 2074986 VAR_005660 + P49815:p.1509del chr16 2075306 2075309 VAR_005661 + P49815:p.Tyr1549Cys chr16 2076311 2076314 VAR_009447 + P49815:p.Leu1594Met chr16 2076371 2076374 VAR_005662 + P49815:p.1614del chr16 2076741 2076744 VAR_009448 + P49815:p.His1620Tyr chr16 2076789 2076792 VAR_022921 + P49815:p.Asp1636Asn chr16 2076810 2076813 VAR_005663 + P49815:p.Asn1643Ile chr16 2076810 2076813 VAR_009449 + P49815:p.Asn1643Lys chr16 2076831 2076834 VAR_005664 + P49815:p.Tyr1650Cys chr16 2076834 2076837 VAR_009450 + P49815:p.Asn1651Ser chr16 2076840 2076843 VAR_018603 + P49815:p.Ser1653Phe chr16 2077891 2077894 VAR_022922 + P49815:p.Val1673Leu chr16 2077897 2077900 VAR_009451 + P49815:p.Pro1675Leu chr16 2077915 2077918 VAR_009452 + P49815:p.Asn1681Lys chr16 2077942 2077943 VAR_005665 + P49815:p.Asp1690Tyr chr16 2078049 2078051 VAR_005665 + P49815:p.Asp1690Tyr chr16 2078090 2078093 VAR_009453 + P49815:p.Ser1704Thr chr16 2078105 2078108 VAR_008030 + P49815:p.Pro1709Leu chr16 2078114 2078117 VAR_005666 + P49815:p.Ala1712Glu chr16 2078294 2078297 VAR_009454 + P49815:p.Arg1743Pro chr16 2078294 2078297 VAR_008031 + P49815:p.Arg1743Gln chr16 2078297 2078300 VAR_009455 + P49815:p.Leu1744Pro chr16 2078303 2078321 VAR_009456 + P49815:p.1746_1751del chr16 2078315 2078318 VAR_005667 + P49815:p.Leu1750Phe chr16 2078504 2078507 VAR_008032 + P49815:p.His1773Pro chr16 2078534 2078537 VAR_008033 + P49815:p.Glu1783Gln chr16 2078546 2078549 VAR_009457 + P49815:p.Gly1787Ser chr16 2078558 2078561 VAR_009458 + P49815:p.Gly1791Ser chr21 44778039 44778042 VAR_036271 - Q8WU66:p.Ala166Thr chr2 152052076 152052079 VAR_013005 + P98066:p.Gln144Arg chr20 51303740 51303743 VAR_026679 + Q9NRE2:p.Arg113Ser chr20 51305444 51305447 VAR_026680 + Q9NRE2:p.Ala681Thr chr14 80491882 80491885 VAR_003564 + P16473:p.Asp36His chr14 80491897 80491900 VAR_011519 + P16473:p.Cys41Ser chr14 80491930 80491933 VAR_003565 + P16473:p.Pro52Thr chr14 80624057 80624060 VAR_011520 + P16473:p.Arg109Gln chr14 80628643 80628646 VAR_011521 + P16473:p.Pro162Ala chr14 80628658 80628661 VAR_011522 + P16473:p.Ile167Asn chr14 80632736 80632739 VAR_003566 + P16473:p.Lys183Arg chr14 80632778 80632781 VAR_003567 + P16473:p.Phe197Ile chr14 80644511 80644514 VAR_003568 + P16473:p.Asp219Glu chr14 80675836 80675839 VAR_021495 + P16473:p.Leu252Pro chr14 80675923 80675926 VAR_003569 + P16473:p.Ser281Ile chr14 80675923 80675926 VAR_003570 + P16473:p.Ser281Asn chr14 80675923 80675926 VAR_011523 + P16473:p.Ser281Thr chr14 80679082 80679085 VAR_011524 + P16473:p.Arg310Cys chr14 80679322 80679325 VAR_011525 + P16473:p.Cys390Trp chr14 80679382 80679385 VAR_011526 + P16473:p.Asp410Asn chr14 80679427 80679430 VAR_021496 + P16473:p.Ser425Ile chr14 80679445 80679448 VAR_011527 + P16473:p.Gly431Ser chr14 80679502 80679505 VAR_011528 + P16473:p.Arg450His chr14 80679511 80679514 VAR_011529 + P16473:p.Met453Thr chr14 80679541 80679544 VAR_011530 + P16473:p.Met463Val chr14 80679553 80679556 VAR_017295 + P16473:p.Leu467Pro chr14 80679583 80679586 VAR_017296 + P16473:p.Thr477Ile chr14 80679610 80679613 VAR_011531 + P16473:p.Ile486Phe chr14 80679610 80679613 VAR_011532 + P16473:p.Ile486Met chr14 80679646 80679649 VAR_011533 + P16473:p.Gly498Ser chr14 80679667 80679670 VAR_003571 + P16473:p.Ser505Asn chr14 80679667 80679670 VAR_011534 + P16473:p.Ser505Arg chr14 80679679 80679682 VAR_011535 + P16473:p.Val509Ala chr14 80679688 80679691 VAR_021497 + P16473:p.Leu512Gln chr14 80679688 80679691 VAR_011536 + P16473:p.Leu512Arg chr14 80679727 80679730 VAR_011537 + P16473:p.Phe525Leu chr14 80679736 80679739 VAR_003572 + P16473:p.Arg528His chr14 80679811 80679814 VAR_011538 + P16473:p.Ala553Thr chr14 80679856 80679859 VAR_011539 + P16473:p.Ile568Thr chr14 80679931 80679934 VAR_021498 + P16473:p.Ala593Asn chr14 80679943 80679946 VAR_021499 + P16473:p.Val597Phe chr14 80679943 80679946 VAR_011540 + P16473:p.Val597Leu chr14 80679952 80679955 VAR_017297 + P16473:p.Cys600Arg chr14 80679970 80679973 VAR_011541 + P16473:p.Ile606Met chr14 80680009 80680012 VAR_003573 + P16473:p.Asp619Gly chr14 80680021 80680024 VAR_003574 + P16473:p.Ala623Ile chr14 80680021 80680024 VAR_011542 + P16473:p.Ala623Val chr14 80680039 80680042 VAR_003575 + P16473:p.Leu629Phe chr14 80680042 80680045 VAR_011543 + P16473:p.Ile630Leu chr14 80680045 80680048 VAR_011544 + P16473:p.Phe631Cys chr14 80680045 80680048 VAR_011545 + P16473:p.Phe631Leu chr14 80680048 80680051 VAR_011546 + P16473:p.Thr632Ala chr14 80680048 80680051 VAR_011547 + P16473:p.Thr632Ile chr14 80680051 80680054 VAR_011548 + P16473:p.Asp633Ala chr14 80680051 80680054 VAR_011549 + P16473:p.Asp633Glu chr14 80680051 80680054 VAR_011550 + P16473:p.Asp633His chr14 80680051 80680054 VAR_011551 + P16473:p.Asp633Tyr chr14 80680069 80680072 VAR_021500 + P16473:p.Pro639Ala chr14 80680069 80680072 VAR_011552 + P16473:p.Pro639Ser chr14 80680093 80680096 VAR_011553 + P16473:p.Ala647Val chr14 80680102 80680105 VAR_011554 + P16473:p.Asn650Tyr chr14 80680120 80680123 VAR_021501 + P16473:p.Val656Phe chr14 80680126 80680138 VAR_011555 + P16473:p.658_661del chr14 80680162 80680165 VAR_011556 + P16473:p.Asn670Ser chr14 80680168 80680171 VAR_011557 + P16473:p.Cys672Tyr chr14 80680183 80680186 VAR_011558 + P16473:p.Leu677Val chr14 80680261 80680264 VAR_011559 + P16473:p.Ala703Gly chr14 80680297 80680300 VAR_003576 + P16473:p.Asn715Asp chr14 80680312 80680315 VAR_011560 + P16473:p.Gln720Glu chr14 80680321 80680324 VAR_003577 + P16473:p.Lys723Met chr19 54958259 54958262 VAR_036272 - Q9UJT2:p.Gly19Arg chr11 76184929 76184932 VAR_028725 + Q8WUA8:p.Arg208Cys chr11 76185049 76185052 VAR_028726 + Q8WUA8:p.Ser248Asn chr11 76185229 76185232 VAR_028727 + Q8WUA8:p.Val308Ile chr11 76185337 76185340 VAR_026726 + Q8WUA8:p.Asp344Glu chr1 46362083 46362086 VAR_034573 + O60635:p.Val87Met chr11 852684 852687 VAR_036616 + O14817:p.Ile67Met chrX 99696346 99696349 VAR_014494 - O43657:p.Ala108Thr chrX 38281666 38281669 VAR_037905 + P41732:p.Glu53Lys chrX 38289724 38289727 VAR_037906 + P41732:p.Ala127Thr chrX 38291247 38291250 VAR_009259 + P41732:p.Pro172His chr12 69819799 69819802 VAR_020093 - P19075:p.Gly73Ala chr12 69809398 69809401 VAR_012054 - P19075:p.Ser213Ala chr15 37668113 37668116 VAR_028938 + P07996:p.Thr523Ala chr15 37669468 37669471 VAR_028939 + P07996:p.Asn700Ser chr1 151978710 151978713 VAR_035808 - P49746:p.Arg955Gly chr5 79371729 79371732 VAR_019951 + P35443:p.Leu55Gln chr5 79397020 79397023 VAR_019952 + P35443:p.Ala387Pro chr5 79399614 79399617 VAR_019953 + P35443:p.Ala420Val chr5 79408476 79408479 VAR_019954 + P35443:p.Val646Ile chrY 9279670 9279673 VAR_016226 + Q01534:p.Glu79Glu chrY 9280753 9280756 VAR_016227 + Q01534:p.Pro195Arg chrY 9280816 9280819 VAR_016228 + Q01534:p.Ile216Phe chr17 2183151 2183154 VAR_037211 - Q2NL82:p.Ser386Gly chr17 2174736 2174739 VAR_037212 - Q2NL82:p.Asn719Ser chr17 2174602 2174605 VAR_037213 - Q2NL82:p.Lys727Gln chr17 2174404 2174407 VAR_037214 - Q2NL82:p.His750Gln chr20 30240995 30240998 VAR_020256 - Q9H489:p.Pro246His chr2 54394759 54394762 VAR_035395 - Q8N831:p.Ala60Val chr2 54394612 54394615 VAR_035396 - Q8N831:p.Gly109Ser chr2 54394591 54394594 VAR_035397 - Q8N831:p.Pro116Leu chr2 54394201 54394204 VAR_035398 - Q8N831:p.Arg246Cys chr3 39127347 39127350 VAR_032879 + Q8NDW8:p.Arg91Gln chr3 39127398 39127401 VAR_032880 + Q8NDW8:p.Val108Leu chr3 39136458 39136461 VAR_032881 + Q8NDW8:p.Arg290Lys chr3 39136467 39136470 VAR_032882 + Q8NDW8:p.Glu293Lys chr3 39145373 39145376 VAR_032883 + Q8NDW8:p.Arg622Trp chr3 39145803 39145805 VAR_032884 + Q8NDW8:p.Arg719Gln chr3 39146573 39146574 VAR_032884 + Q8NDW8:p.Arg719Gln chr3 39153439 39153442 VAR_032885 + Q8NDW8:p.Arg1055Leu chr3 39153986 39153989 VAR_032886 + Q8NDW8:p.Ser1160Arg chr2 166606692 166606695 VAR_032890 - Q7Z4L5:p.Pro463Ser chr2 166606662 166606665 VAR_032891 - Q7Z4L5:p.Leu473Phe chr2 166589724 166589727 VAR_032892 - Q7Z4L5:p.Lys846Arg chr11 112728094 112728097 VAR_031432 + Q9H892:p.Met468Leu chr2 4930577 4930580 VAR_028442 + Q8WVT3:p.Ser301Gly chr2 5021455 5021458 VAR_035869 + Q8WVT3:p.Glu717Gln chr9 127566683 127566686 VAR_025542 + Q8NEE8:p.Met405Thr chr9 127569295 127569298 VAR_025543 + Q8NEE8:p.Glu588Gly chr9 127573229 127573232 VAR_025544 + Q8NEE8:p.Ala872Ser chr11 43369603 43369606 VAR_034135 + Q96AE7:p.Ile145Leu chr7 138308872 138308875 VAR_032568 + A0AVF1:p.Asp310Asn chr5 94886871 94886874 VAR_027705 - Q6PGP7:p.Leu437Val chr5 94852410 94852413 VAR_027706 - Q6PGP7:p.Arg1296Ser chr21 37447224 37447227 VAR_020312 + P53804:p.Met840Thr chr21 37459734 37459737 VAR_014491 + P53804:p.Phe1117Leu chr21 37460250 37460253 VAR_035868 + P53804:p.Lys1289Met chr1 54894320 54894323 VAR_031713 + O95801:p.Ser47Thr chr14 19843894 19843897 VAR_034131 - Q8N0Z6:p.Gln14His chr14 37343671 37343674 VAR_034132 + Q86TZ1:p.Ile87Ser chr14 37343704 37343707 VAR_034133 + Q86TZ1:p.Ala98Thr chr14 37347748 37347751 VAR_024677 + Q86TZ1:p.Thr140Ile chr14 37366247 37366250 VAR_034134 + Q86TZ1:p.Thr376Ser chr7 39947319 39947322 VAR_036273 - Q8TAP9:p.Gly29Glu chr7 39946005 39946008 VAR_022940 - Q8TAP9:p.Met144Val chr1 117329746 117329749 VAR_023393 + Q9UNY4:p.Lys167Glu chr1 117329884 117329887 VAR_034431 + Q9UNY4:p.Lys213Arg chr18 27426862 27426865 VAR_007546 + P02766:p.Gly26Ser chr18 27426874 27426877 VAR_007547 + P02766:p.Cys30Arg chr18 27426880 27426883 VAR_038959 + P02766:p.Leu32Pro chr18 27426883 27426886 VAR_038960 + P02766:p.Met33Ile chr18 27426898 27426901 VAR_007548 + P02766:p.Asp38Glu chr18 27426898 27426901 VAR_007549 + P02766:p.Asp38Gly chr18 27426904 27426907 VAR_007550 + P02766:p.Val40Ile chr18 27426913 27426916 VAR_038961 + P02766:p.Ser43Asn chr18 27426916 27426919 VAR_007551 + P02766:p.Pro44Ser chr18 27426928 27426931 VAR_010658 + P02766:p.Val48Met chr18 27426934 27426937 VAR_007552 + P02766:p.Val50Ala chr18 27426934 27426937 VAR_038962 + P02766:p.Val50Gly chr18 27426934 27426937 VAR_007553 + P02766:p.Val50Leu chr18 27426934 27426937 VAR_007554 + P02766:p.Val50Met chr18 27426943 27426946 VAR_038963 + P02766:p.Phe53Cys chr18 27426943 27426946 VAR_007555 + P02766:p.Phe53Ile chr18 27426943 27426946 VAR_007556 + P02766:p.Phe53Leu chr18 27426943 27426946 VAR_038964 + P02766:p.Phe53Val chr18 27426946 27426949 VAR_038965 + P02766:p.Arg54Thr chr18 27426949 27426952 VAR_038966 + P02766:p.Lys55Asn chr18 27426952 27426955 VAR_007557 + P02766:p.Ala56Pro chr18 27426958 27426961 VAR_038967 + P02766:p.Asp58Ala chr18 27426958 27426961 VAR_038968 + P02766:p.Asp58Val chr18 27426967 27426970 VAR_038969 + P02766:p.Trp61Leu chr18 27426970 27426973 VAR_038970 + P02766:p.Glu62Asp chr18 27426970 27426973 VAR_007558 + P02766:p.Glu62Gly chr18 27426976 27426979 VAR_038971 + P02766:p.Phe64Ser chr18 27426979 27426982 VAR_007559 + P02766:p.Ala65Asp chr18 27426979 27426982 VAR_038972 + P02766:p.Ala65Ser chr18 27426979 27426982 VAR_007560 + P02766:p.Ala65Thr chr18 27426985 27426987 VAR_007561 + P02766:p.Gly67Ala chr18 27429080 27429081 VAR_007561 + P02766:p.Gly67Ala chr18 27426985 27426987 VAR_038973 + P02766:p.Gly67Glu chr18 27429080 27429081 VAR_038973 + P02766:p.Gly67Glu chr18 27426985 27426987 VAR_007562 + P02766:p.Gly67Arg chr18 27429080 27429081 VAR_007562 + P02766:p.Gly67Arg chr18 27426985 27426987 VAR_007563 + P02766:p.Gly67Val chr18 27429080 27429081 VAR_007563 + P02766:p.Gly67Val chr18 27429084 27429087 VAR_007564 + P02766:p.Thr69Ala chr18 27429084 27429087 VAR_038974 + P02766:p.Thr69Ile chr18 27429087 27429090 VAR_007565 + P02766:p.Ser70Ile chr18 27429087 27429090 VAR_007566 + P02766:p.Ser70Arg chr18 27429093 27429096 VAR_007567 + P02766:p.Ser72Pro chr18 27429096 27429099 VAR_038975 + P02766:p.Gly73Glu chr18 27429099 27429102 VAR_007568 + P02766:p.Glu74Gly chr18 27429099 27429102 VAR_038976 + P02766:p.Glu74Lys chr18 27429102 27429105 VAR_007569 + P02766:p.Leu75Pro chr18 27429102 27429105 VAR_038977 + P02766:p.Leu75Gln chr18 27429111 27429114 VAR_007570 + P02766:p.Leu78His chr18 27429111 27429114 VAR_007571 + P02766:p.Leu78Arg chr18 27429114 27429117 VAR_007572 + P02766:p.Thr79Lys chr18 27429117 27429120 VAR_007573 + P02766:p.Thr80Ala chr18 27429120 27429123 VAR_038978 + P02766:p.Glu81Gly chr18 27429120 27429123 VAR_007574 + P02766:p.Glu81Lys chr18 27429129 27429132 VAR_007575 + P02766:p.Phe84Leu chr18 27429141 27429144 VAR_007576 + P02766:p.Ile88Leu chr18 27429144 27429147 VAR_007577 + P02766:p.Tyr89His chr18 27429147 27429150 VAR_007578 + P02766:p.Lys90Asn chr18 27429150 27429153 VAR_007579 + P02766:p.Val91Ala chr18 27429156 27429159 VAR_007580 + P02766:p.Ile93Val chr18 27429159 27429162 VAR_007581 + P02766:p.Asp94His chr18 27429168 27429171 VAR_007582 + P02766:p.Ser97Tyr chr18 27429171 27429174 VAR_038979 + P02766:p.Tyr98Phe chr18 27429189 27429192 VAR_007583 + P02766:p.Ile104Asn chr18 27429189 27429192 VAR_007584 + P02766:p.Ile104Ser chr18 27429189 27429192 VAR_038980 + P02766:p.Ile104Thr chr18 27429204 27429207 VAR_010659 + P02766:p.Glu109Lys chr18 27429204 27429207 VAR_007585 + P02766:p.Glu109Gln chr18 27429207 27429210 VAR_007586 + P02766:p.His110Asn chr18 27429210 27429213 VAR_007587 + P02766:p.Ala111Ser chr18 27432531 27432534 VAR_038981 + P02766:p.Val114Ala chr18 27432540 27432543 VAR_007588 + P02766:p.Ala117Gly chr18 27432540 27432543 VAR_038982 + P02766:p.Ala117Ser chr18 27432552 27432555 VAR_007589 + P02766:p.Gly121Ser chr18 27432555 27432558 VAR_007590 + P02766:p.Pro122Arg chr18 27432561 27432564 VAR_007591 + P02766:p.Arg124Cys chr18 27432561 27432564 VAR_038983 + P02766:p.Arg124His chr18 27432567 27432570 VAR_038984 + P02766:p.Thr126Asn chr18 27432570 27432573 VAR_038985 + P02766:p.Ile127Met chr18 27432570 27432573 VAR_007592 + P02766:p.Ile127Val chr18 27432576 27432579 VAR_007593 + P02766:p.Ala129Thr chr18 27432582 27432585 VAR_007594 + P02766:p.Leu131Met chr18 27432591 27432594 VAR_007595 + P02766:p.Tyr134Cys chr18 27432591 27432594 VAR_007598 + P02766:p.Tyr134His chr18 27432597 27432600 VAR_007596 + P02766:p.Tyr136Ser chr18 27432597 27432600 VAR_007597 + P02766:p.Tyr136Val chr18 27432606 27432609 VAR_007599 + P02766:p.Thr139Met chr18 27432609 27432612 VAR_038986 + P02766:p.Ala140Ser chr18 27432615 27432618 VAR_038987 + P02766:p.Val142Ala chr18 27432615 27432618 VAR_007600 + P02766:p.Val142Ile chr18 27432621 27432624 VAR_038988 + P02766:p.Asn144Ser chr6 167709078 167709081 VAR_028119 + Q9BWV7:p.Gly3Arg chr6 167724177 167724180 VAR_028120 + Q9BWV7:p.Thr127Ala chr6 167724402 167724405 VAR_028121 + Q9BWV7:p.Leu202Pro chr6 167725131 167725134 VAR_028123 + Q9BWV7:p.Gly445Ser chr6 167725383 167725386 VAR_028124 + Q9BWV7:p.Gln529His chr2 219427952 219427955 VAR_031464 + Q14679:p.Asn17Ser chr2 219428003 219428006 VAR_031465 + Q14679:p.Glu34Gln chr2 219428993 219428996 VAR_031466 + Q14679:p.Leu364Pro chr2 219429155 219429158 VAR_013140 + Q14679:p.Arg418His chr2 219430349 219430352 VAR_031467 + Q14679:p.Gly518Ser chr2 219430367 219430370 VAR_031468 + Q14679:p.Ser524Gly chr2 219439115 219439118 VAR_031469 + Q14679:p.Ala852Ser chr8 64160957 64160960 VAR_022388 - P49638:p.Arg59Trp chr8 64148102 64148105 VAR_005668 - P49638:p.His101Gln chr8 64141145 64141148 VAR_022390 - P49638:p.Glu141Lys chr8 64141052 64141055 VAR_037973 - P49638:p.Thr172Ser chr8 64139405 64139408 VAR_007858 - P49638:p.Arg192His chr8 64139318 64139321 VAR_022391 - P49638:p.Arg221Trp chr8 64136463 64136466 VAR_022392 - P49638:p.Gly246Arg chr19 44590306 44590309 VAR_021064 + P26651:p.Pro37Ser chr19 44590972 44590975 VAR_021065 + P26651:p.Ile259Phe chr19 44591167 44591170 VAR_021066 + P26651:p.Val324Phe chr6 24761249 24761252 VAR_022634 - O95551:p.Gln249Glu chr6 24761192 24761195 VAR_022635 - O95551:p.Arg268Gln chr1 148364336 148364339 VAR_034574 + Q9NNX1:p.Lys296Arg chr6 35586733 35586757 VAR_013310 - O00294:p.120_127del chr6 35585050 35585053 VAR_008275 - O00294:p.Ala245Val chr6 35585008 35585011 VAR_008276 - O00294:p.Ile259Thr chr6 35579581 35579584 VAR_008278 - O00294:p.Arg378His chr6 35579569 35579572 VAR_037584 - O00294:p.Phe382Ser chr6 35579376 35579379 VAR_007941 - O00294:p.Arg420Pro chr6 35575868 35575871 VAR_008279 - O00294:p.Thr454Met chr6 35575853 35575856 VAR_007942 - O00294:p.Ile459Lys chr6 35575763 35575766 VAR_008280 - O00294:p.Lys489Arg chr6 35575757 35575760 VAR_007943 - O00294:p.Phe491Leu chr6 35575742 35575745 VAR_008281 - O00294:p.Ala496Thr chr19 54092443 54092446 VAR_029312 - O00295:p.Ala18Thr chr19 54083231 54083234 VAR_022136 - O00295:p.Glu245Lys chr19 54083213 54083216 VAR_024679 - O00295:p.Asp251Asn chr17 1130051 1130054 VAR_029589 + Q8IXB3:p.His3Tyr chr17 1130087 1130090 VAR_029590 + Q8IXB3:p.Pro15Ser chr17 1130096 1130099 VAR_029591 + Q8IXB3:p.Ala18Thr chr17 1130144 1130147 VAR_029593 + Q8IXB3:p.Glu34Asp chr11 62101009 62101012 VAR_028833 - Q9H6E5:p.Leu442Phe chr1 156725970 156725973 VAR_035256 - Q9P2J2:p.Gly34Glu chr1 156711460 156711463 VAR_035258 - Q9P2J2:p.Pro914Leu chr1 156711124 156711127 VAR_035259 - Q9P2J2:p.Ser1026Thr chr7 18930091 18930094 VAR_014821 - Q15672:p.Ser31Gly chr7 18929932 18929935 VAR_014822 - Q15672:p.Gly84Ser chr7 18929827 18929830 VAR_004495 - Q15672:p.Gln119Pro chr7 18929791 18929794 VAR_004496 - Q15672:p.Leu131Pro chr7 18929779 18929782 VAR_004497 - Q15672:p.Ile135Ile chr7 18929767 18929770 VAR_004498 - Q15672:p.Pro139Pro chr7 18929716 18929719 VAR_015219 - Q15672:p.Ile156Val chr7 18929626 18929629 VAR_034985 - Q15672:p.Ala186Thr chr7 18929620 18929623 VAR_034986 - Q15672:p.Ser188Leu chr18 64528319 64528322 VAR_022451 - Q96JJ7:p.Pro61Ser chr5 134257230 134257233 VAR_036172 + Q96J42:p.Ser248Pro chr4 47956190 47956193 VAR_028368 - P42681:p.Arg45His chr4 47955442 47955445 VAR_041869 - P42681:p.Arg63Cys chr4 47923021 47923024 VAR_028369 - P42681:p.Arg336Gln chrX 16607421 16607424 VAR_019809 + Q9NUQ3:p.Ile246Val chr18 9877856 9877859 VAR_022764 + Q86VQ3:p.Ala461Thr chr18 9877934 9877937 VAR_022765 + Q86VQ3:p.Arg487Thr chr7 37663505 37663508 VAR_032948 + Q8N427:p.Arg43Lys chr7 37680543 37680546 VAR_022766 + Q8N427:p.Cys208Arg chr7 37689719 37689722 VAR_036171 + Q8N427:p.Ile289Thr chr11 2147524 2147527 VAR_014025 - P07101:p.Val112Met chr11 2145709 2145712 VAR_014026 - P07101:p.Arg233His chr11 2145700 2145703 VAR_014027 - P07101:p.Leu236Pro chr11 2144798 2144801 VAR_014028 - P07101:p.Thr276Pro chr11 2144566 2144569 VAR_014029 - P07101:p.Thr314Met chr11 2144497 2144500 VAR_014030 - P07101:p.Arg337His chr11 2143530 2143533 VAR_014031 - P07101:p.Gln412Lys chr11 2142143 2142146 VAR_014032 - P07101:p.Thr494Met chr11 2142128 2142131 VAR_014033 - P07101:p.Val499Met chr14 89499493 89499496 VAR_025817 + Q9NUW8:p.Glu95Asp chr14 89499511 89499514 VAR_025818 + Q9NUW8:p.Pro101Leu chr14 89499610 89499613 VAR_025819 + Q9NUW8:p.Ala134Thr chr14 89499769 89499770 VAR_025820 + Q9NUW8:p.Asp187Gly chr14 89502243 89502245 VAR_025820 + Q9NUW8:p.Asp187Gly chr14 89520637 89520640 VAR_025821 + Q9NUW8:p.Arg304Gln chr14 89529515 89529518 VAR_017144 + Q9NUW8:p.His493Arg chr14 89569253 89569256 VAR_017145 + Q9NUW8:p.Pro566Leu chr14 89569262 89569265 VAR_025822 + Q9NUW8:p.Thr569Ala chr19 10350070 10350073 VAR_037796 - P29597:p.Arg4Cys chr19 10350070 10350073 VAR_020597 - P29597:p.Arg4His chr19 10340044 10340047 VAR_037797 - P29597:p.Ala81Val chr19 10338130 10338133 VAR_020598 - P29597:p.Arg197His chr19 10336649 10336652 VAR_020599 - P29597:p.Val362Phe chr19 10336646 10336649 VAR_020600 - P29597:p.Gly363Ser chr19 10336577 10336580 VAR_041870 - P29597:p.Val386Met chr19 10336330 10336333 VAR_037798 - P29597:p.Arg442Gln chr19 10330973 10330976 VAR_020286 - P29597:p.Ile684Ser chr19 10330916 10330919 VAR_041871 - P29597:p.Arg703Trp chr19 10329793 10329796 VAR_041872 - P29597:p.His732Arg chr19 10329445 10329448 VAR_037799 - P29597:p.Pro820His chr19 10325841 10325844 VAR_041873 - P29597:p.Ala928Val chr19 10324115 10324118 VAR_041874 - P29597:p.Pro1104Ala chr19 10322584 10322587 VAR_041875 - P29597:p.Glu1163Gly chr19 41087319 41087322 VAR_011985 - O43914:p.Tyr111His chr22 49258150 49258153 VAR_016777 - P19971:p.Arg44Gln chr22 49256248 49256251 VAR_007644 - P19971:p.Gly153Ser chr22 49254580 49254586 VAR_007647 - P19971:p.397_398del chr11 88550823 88550826 VAR_007649 + P14679:p.His19Gln chr11 88550829 88550832 VAR_007650 + P14679:p.Pro21Ser chr11 88550874 88550877 VAR_021683 + P14679:p.Cys36Tyr chr11 88550892 88550895 VAR_007651 + P14679:p.Asp42Gly chr11 88550898 88550901 VAR_021684 + P14679:p.Ser44Gly chr11 88550898 88550901 VAR_021685 + P14679:p.Ser44Arg chr11 88550907 88550910 VAR_007652 + P14679:p.Gly47Asp chr11 88550907 88550910 VAR_021686 + P14679:p.Gly47Val chr11 88550922 88550925 VAR_007653 + P14679:p.Arg52Ile chr11 88550931 88550934 VAR_007654 + P14679:p.Cys55Tyr chr11 88550970 88550973 VAR_021687 + P14679:p.Gln68His chr11 88550997 88551000 VAR_007655 + P14679:p.Arg77Gln chr11 88550997 88551000 VAR_009236 + P14679:p.Arg77Arg chr11 88550997 88551000 VAR_007656 + P14679:p.Arg77Trp chr11 88551003 88551006 VAR_021688 + P14679:p.Ser79Leu chr11 88551006 88551009 VAR_007657 + P14679:p.Trp80Arg chr11 88551009 88551012 VAR_007658 + P14679:p.Pro81Leu chr11 88551033 88551036 VAR_007659 + P14679:p.Cys89Arg chr11 88551057 88551060 VAR_007660 + P14679:p.Gly97Arg chr11 88551093 88551096 VAR_021689 + P14679:p.Gly109Arg chr11 88551168 88551171 VAR_034576 + P14679:p.Phe134Cys chr11 88551192 88551195 VAR_042665 + P14679:p.Lys142Asn chr11 88551222 88551225 VAR_007925 + P14679:p.Pro152Ser chr11 88551231 88551234 VAR_021690 + P14679:p.Thr155Ser chr11 88551294 88551297 VAR_007661 + P14679:p.Phe176Ile chr11 88551297 88551300 VAR_021691 + P14679:p.Val177Phe chr11 88551303 88551306 VAR_021692 + P14679:p.Met179Leu chr11 88551306 88551309 VAR_021693 + P14679:p.His180Asn chr11 88551342 88551345 VAR_007662 + P14679:p.Ser192Tyr chr11 88551363 88551366 VAR_021694 + P14679:p.Asp199Asn chr11 88551369 88551372 VAR_021695 + P14679:p.Ala201Ser chr11 88551381 88551384 VAR_021696 + P14679:p.Pro205Thr chr11 88551384 88551387 VAR_007663 + P14679:p.Ala206Thr chr11 88551414 88551417 VAR_007664 + P14679:p.Leu216Met chr11 88551417 88551420 VAR_007665 + P14679:p.Arg217Gly chr11 88551417 88551420 VAR_007667 + P14679:p.Arg217Gln chr11 88551417 88551420 VAR_021697 + P14679:p.Arg217Ser chr11 88551417 88551420 VAR_007666 + P14679:p.Arg217Trp chr11 88551417 88551420 VAR_007926 + P14679:p.217del chr11 88551447 88551450 VAR_021698 + P14679:p.227del chr11 88551474 88551477 VAR_021699 + P14679:p.Trp236Leu chr11 88551474 88551477 VAR_021700 + P14679:p.Trp236Ser chr11 88551483 88551486 VAR_021701 + P14679:p.Arg239Trp chr11 88551486 88551489 VAR_021702 + P14679:p.Asp240Val chr11 88551495 88551498 VAR_021703 + P14679:p.Lys243Thr chr11 88551525 88551528 VAR_007668 + P14679:p.Gly253Arg chr11 88551534 88551537 VAR_021704 + P14679:p.His256Tyr chr11 88551582 88551585 VAR_021705 + P14679:p.Trp272Cys chr11 88564020 88564023 VAR_007669 + P14679:p.Val275Phe chr11 88564059 88564062 VAR_007927 + P14679:p.Leu288Ser chr11 88564062 88564065 VAR_009237 + P14679:p.Cys289Gly chr11 88564062 88564065 VAR_007670 + P14679:p.Cys289Arg chr11 88564077 88564080 VAR_021706 + P14679:p.Glu294Gly chr11 88564077 88564080 VAR_007928 + P14679:p.Glu294Lys chr11 88564092 88564095 VAR_007671 + P14679:p.Arg299His chr11 88564092 88564095 VAR_007672 + P14679:p.Arg299Ser chr11 88564119 88564122 VAR_011825 + P14679:p.Arg308Thr chr11 88564131 88564134 VAR_007673 + P14679:p.Leu312Val chr11 88564134 88564137 VAR_007674 + P14679:p.Pro313Arg chr11 88564149 88564152 VAR_021707 + P14679:p.Val318Glu chr11 88564170 88564173 VAR_007675 + P14679:p.Thr325Ala chr11 88564179 88564182 VAR_007929 + P14679:p.Glu328Gln chr11 88564182 88564185 VAR_021708 + P14679:p.Ser329Pro chr11 88564191 88564194 VAR_021709 + P14679:p.Met332Thr chr11 88564212 88564215 VAR_007676 + P14679:p.Ser339Gly chr11 88564215 88564218 VAR_007677 + P14679:p.Phe340Leu chr11 88564230 88564233 VAR_021710 + P14679:p.Glu345Gly chr11 88564233 88564234 VAR_007930 + P14679:p.Gly346Glu chr11 88600638 88600640 VAR_007930 + P14679:p.Gly346Glu chr11 88600664 88600667 VAR_007931 + P14679:p.Ala355Glu chr11 88600664 88600667 VAR_007678 + P14679:p.Ala355Pro chr11 88600682 88600685 VAR_007932 + P14679:p.Ser361Arg chr11 88600700 88600703 VAR_007933 + P14679:p.His367Tyr chr11 88600709 88600712 VAR_007934 + P14679:p.Met370Thr chr11 88600712 88600715 VAR_007679 + P14679:p.Asn371Thr chr11 88600712 88600715 VAR_007935 + P14679:p.Asn371Tyr chr11 88600718 88600721 VAR_007680 + P14679:p.Thr373Lys chr11 88600733 88600736 VAR_021711 + P14679:p.Gln378Lys chr11 88600739 88600742 VAR_007681 + P14679:p.Ser380Pro chr11 88600745 88600748 VAR_007682 + P14679:p.Asn382Lys chr11 88600748 88600751 VAR_007683 + P14679:p.Asp383Asn chr11 88600769 88600772 VAR_007684 + P14679:p.His390Asp chr11 88600778 88600781 VAR_007936 + P14679:p.Val393Phe chr11 88600784 88600786 VAR_007685 + P14679:p.Ser395Asn chr11 88657588 88657589 VAR_007685 + P14679:p.Ser395Asn chr11 88600784 88600786 VAR_021712 + P14679:p.Ser395Arg chr11 88657588 88657589 VAR_021712 + P14679:p.Ser395Arg chr11 88657595 88657598 VAR_021713 + P14679:p.Glu398Ala chr11 88657595 88657598 VAR_021714 + P14679:p.Glu398Val chr11 88657601 88657604 VAR_009238 + P14679:p.Trp400Leu chr11 88657607 88657610 VAR_007937 + P14679:p.Arg402Gly chr11 88657607 88657610 VAR_021715 + P14679:p.Arg402Leu chr11 88657607 88657610 VAR_007686 + P14679:p.Arg402Gln chr11 88657610 88657613 VAR_007687 + P14679:p.Arg403Ser chr11 88657613 88657616 VAR_021716 + P14679:p.His404Asn chr11 88657613 88657616 VAR_007688 + P14679:p.His404Pro chr11 88657616 88657619 VAR_021717 + P14679:p.Arg405Leu chr11 88657619 88657622 VAR_007689 + P14679:p.Pro406Leu chr11 88657625 88657628 VAR_021718 + P14679:p.Gln408His chr11 88657628 88657631 VAR_021719 + P14679:p.Glu409Asp chr11 88657649 88657652 VAR_021720 + P14679:p.Ala416Ser chr11 88657652 88657655 VAR_021721 + P14679:p.Pro417His chr11 88657658 88657661 VAR_007690 + P14679:p.Gly419Arg chr11 88657667 88657670 VAR_007691 + P14679:p.Arg422Gln chr11 88657673 88657676 VAR_021722 + P14679:p.Ser424Phe chr11 88657679 88657682 VAR_021723 + P14679:p.Met426Lys chr11 88657682 88657685 VAR_021724 + P14679:p.Val427Gly chr11 88657694 88657697 VAR_007938 + P14679:p.Pro431Leu chr11 88657703 88657706 VAR_021725 + P14679:p.Arg434Ile chr11 88657706 88657709 VAR_021726 + P14679:p.Asn435Asp chr11 88657718 88657721 VAR_021727 + P14679:p.Phe439Val chr11 88657733 88657736 VAR_021728 + P14679:p.Asp444Gly chr11 88657739 88657742 VAR_007692 + P14679:p.Gly446Ser chr11 88657745 88657748 VAR_007693 + P14679:p.Asp448Asn chr9 12692332 12692335 VAR_026827 + P17643:p.Arg326His chr9 12692422 12692425 VAR_026828 + P17643:p.Arg356Gln chr7 65992675 65992676 VAR_031288 + Q9NV66:p.Gly462Val chr7 66007677 66007679 VAR_031288 + Q9NV66:p.Gly462Val chr7 66104390 66104393 VAR_031289 + Q9NV66:p.His632Arg chr7 66147477 66147480 VAR_031290 + Q9NV66:p.Asp671Asn chr8 125532430 125532433 VAR_031291 + Q53H54:p.Trp28Arg chr5 112255697 112255700 VAR_021999 + Q15695:p.Ser155Gly chr5 112256564 112256567 VAR_024622 + Q15695:p.Ser444Asn chr3 51950899 51950902 VAR_035887 - O43818:p.Arg8Gly chr3 51944260 51944263 VAR_035888 - O43818:p.Ala342Glu chr16 74147590 74147593 VAR_038543 - Q9H6L2:p.Leu6Val chr2 96366535 96366538 VAR_035943 - O75643:p.Phe1736Leu chr17 40287190 40287193 VAR_014931 - Q15029:p.Gly773Val chr2 181753097 181753100 VAR_023392 + Q969T4:p.Trp201Arg chr6 90108833 90108836 VAR_019689 - Q9Y385:p.Gly55Val chr6 90096386 90096389 VAR_019690 - Q9Y385:p.Leu229Val chr19 492519 492522 VAR_021277 + P49427:p.Asp227His chr9 34232091 34232094 VAR_034577 + Q9NZ09:p.Asn357Lys chr9 33931757 33931760 VAR_029834 - Q5T6F2:p.Asn606Ser chr9 33917897 33917900 VAR_029835 - Q5T6F2:p.Ala756Val chr6 29631980 29631983 VAR_024273 - O15205:p.Leu51Ser chr6 29631929 29631932 VAR_024274 - O15205:p.Ile68Thr chr6 29631848 29631851 VAR_024275 - O15205:p.Ser95Pro chr6 29631836 29631839 VAR_025401 - O15205:p.Ala99Gly chr6 29631647 29631650 VAR_024276 - O15205:p.Cys162Phe chr20 43874813 43874816 VAR_007694 + O00762:p.Gly25Asp chr17 71898876 71898879 VAR_031184 - Q9C0C9:p.Gly1207Ser chr11 64645608 64645611 VAR_019644 - P35544:p.Thr53Ile chr3 33426016 33426019 VAR_025730 - Q9NZI7:p.Thr212Ala chr16 83336185 83336188 VAR_015859 + Q14694:p.Met200Val chr16 83336194 83336197 VAR_015860 + Q14694:p.Ser203Pro chr16 83336197 83336200 VAR_015861 + Q14694:p.Val204Leu chr21 29330538 29330541 VAR_020388 + Q9Y5T5:p.Gln141His chr22 17025234 17025237 VAR_024589 + Q9UMW8:p.Thr169Met chr19 62332956 62332959 VAR_024590 + Q9HBJ7:p.Asn368Ser chr19 62333610 62333613 VAR_022055 + Q9HBJ7:p.Glu586Lys chr1 151036819 151036822 VAR_026829 + Q14157:p.Gln482His chr16 23009525 23009528 VAR_027422 - Q70CQ4:p.Asp445Tyr chr16 23005939 23005942 VAR_027423 - Q70CQ4:p.Gln532His chr16 23005921 23005924 VAR_027424 - Q70CQ4:p.Ile538Thr chr16 23004450 23004453 VAR_027425 - Q70CQ4:p.Ala552Thr chr16 22988133 22988136 VAR_027426 - Q70CQ4:p.Arg931Leu chr1 21828381 21828384 VAR_027427 - Q86UV5:p.Ser125Cys chr1 21828351 21828354 VAR_027428 - Q86UV5:p.Glu135Lys chr3 49306866 49306869 VAR_028180 - Q13107:p.Tyr620Cys chr15 48561077 48561080 VAR_017796 + P40818:p.Asp443Gly chr15 48573589 48573592 VAR_017797 + P40818:p.Ala827Gly chr11 5485726 5485729 VAR_034578 - Q9H347:p.Met546Thr chr11 5485492 5485495 VAR_020363 - Q9H347:p.Arg624Gln chr15 41162136 41162139 VAR_024741 - Q8IWV7:p.His136Arg chr15 41122765 41122768 VAR_034467 - Q8IWV7:p.Lys596Met chr15 41069530 41069533 VAR_024742 - Q8IWV7:p.Gly1279Ser chr6 42735411 42735414 VAR_023283 + Q8IWV8:p.Ala1095Thr chr21 42697174 42697177 VAR_026971 + P57075:p.Ser18Gly chr21 42697204 42697207 VAR_026972 + P57075:p.Leu28Phe chr21 42711596 42711599 VAR_026973 + P57075:p.Gln286Arg chr4 41100559 41100562 VAR_015677 + P09936:p.Ser18Tyr chr4 41103693 41103696 VAR_015678 + P09936:p.Ile93Met chr1 189728909 189728912 VAR_011613 - Q9Y5K5:p.Ile197Phe chr4 141846670 141846673 VAR_022840 - P25874:p.Ala64Thr chr4 141841073 141841076 VAR_022841 - P25874:p.Met229Leu chr11 73366750 73366753 VAR_016129 - P55851:p.Ala55Val chr11 73366687 73366690 VAR_023998 - P55851:p.Arg76Gln chr11 73365585 73365588 VAR_023999 - P55851:p.Arg154Gln chr11 73364194 73364197 VAR_024000 - P55851:p.Ala268Gly chr11 73363783 73363786 VAR_024001 - P55851:p.Ser282Cys chr11 73394988 73394991 VAR_004407 - P55916:p.Arg70Trp chr11 73394892 73394895 VAR_004408 - P55916:p.Val102Ile chr1 989673 989676 VAR_016181 + P05161:p.Ser83Asn chr2 234327342 234327345 VAR_018354 + Q9HAW8:p.Met59Ile chr2 234327771 234327774 VAR_018355 + Q9HAW8:p.Thr202Ile chr2 234450975 234450978 VAR_019410 + P22309:p.Leu15Arg chr2 234451032 234451035 VAR_026134 + P22309:p.Pro34Gln chr2 234451047 234451050 VAR_026135 + P22309:p.His39Asp chr2 234451143 234451146 VAR_009504 + P22309:p.Gly71Arg chr2 234451179 234451182 VAR_026136 + P22309:p.Phe83Leu chr2 234451440 234451443 VAR_007695 + P22309:p.170del chr2 234451455 234451458 VAR_019411 + P22309:p.Leu175Gln chr2 234451461 234451464 VAR_007697 + P22309:p.Cys177Arg chr2 234451557 234451560 VAR_007698 + P22309:p.Arg209Trp chr2 234451605 234451608 VAR_026137 + P22309:p.Val225Gly chr2 234451617 234451620 VAR_009505 + P22309:p.Pro229Gln chr2 234451758 234451761 VAR_007699 + P22309:p.Gly276Arg chr2 234457685 234457688 VAR_026138 + P22309:p.Glu291Val chr2 234457688 234457691 VAR_007700 + P22309:p.Ala292Val chr2 234457694 234457697 VAR_026139 + P22309:p.Ile294Thr chr2 234457736 234457739 VAR_007701 + P22309:p.Gly308Glu chr2 234457805 234457808 VAR_007702 + P22309:p.Gln331Arg chr2 234458503 234458506 VAR_026140 + P22309:p.Arg336Leu chr2 234458503 234458506 VAR_026141 + P22309:p.Arg336Gln chr2 234458503 234458506 VAR_026142 + P22309:p.Arg336Trp chr2 234458557 234458560 VAR_026143 + P22309:p.Trp354Arg chr2 234458566 234458569 VAR_007703 + P22309:p.Gln357Arg chr2 234458879 234458882 VAR_012283 + P22309:p.Arg367Gly chr2 234458882 234458885 VAR_007704 + P22309:p.Ala368Thr chr2 234458903 234458906 VAR_007705 + P22309:p.Ser375Phe chr2 234458906 234458909 VAR_026144 + P22309:p.His376Arg chr2 234458909 234458912 VAR_026145 + P22309:p.Gly377Val chr2 234458921 234458924 VAR_007706 + P22309:p.Ser381Arg chr2 234458939 234458942 VAR_026146 + P22309:p.Pro387Ser chr2 234458963 234458966 VAR_026147 + P22309:p.Gly395Val chr2 234458978 234458981 VAR_019412 + P22309:p.Asn400Asp chr2 234458981 234458984 VAR_007707 + P22309:p.Ala401Pro chr2 234458987 234458990 VAR_026148 + P22309:p.Arg403Cys chr2 234459062 234459065 VAR_007708 + P22309:p.Lys428Glu chr2 234462983 234462986 VAR_026149 + P22309:p.Trp461Arg chr2 234463034 234463037 VAR_026150 + P22309:p.Ala478Asp chr2 234463058 234463061 VAR_007709 + P22309:p.Tyr486Asp chr2 234463133 234463136 VAR_025355 + P22309:p.Ala511Pro chr2 234409535 234409538 VAR_024684 + P22310:p.Pro24Thr chr2 234409859 234409862 VAR_009506 + P22310:p.Leu132Pro chr2 234457805 234457808 VAR_007710 + P22310:p.Gln332Arg chr2 234458903 234458906 VAR_007711 + P22310:p.Ser376Phe chr2 234463058 234463061 VAR_009507 + P22310:p.Tyr487Asp chr2 234383668 234383671 VAR_024685 + P19224:p.Ser7Ala chr2 234383857 234383860 VAR_026628 + P19224:p.Ser70Tyr chr2 234384190 234384193 VAR_014784 + P19224:p.Thr181Ala chr2 234384199 234384202 VAR_015559 + P19224:p.Arg184Ser chr2 234463133 234463136 VAR_026629 + P19224:p.Ala510Pro chr2 234372967 234372970 VAR_015556 + Q9HAW7:p.Asn129Lys chr2 234372973 234372976 VAR_015557 + Q9HAW7:p.Arg131Lys chr2 234373204 234373207 VAR_015558 + Q9HAW7:p.Trp208Arg chr2 234308746 234308749 VAR_015543 + Q9HAW9:p.Lys132Arg chr2 234308812 234308815 VAR_015544 + Q9HAW9:p.Gly154Ala chr2 234308869 234308872 VAR_015545 + Q9HAW9:p.Ala173Gly chr2 234308956 234308959 VAR_015546 + Q9HAW9:p.Thr202Ala chr2 234308986 234308989 VAR_015547 + Q9HAW9:p.Met212Leu chr2 234309181 234309184 VAR_015549 + Q9HAW9:p.Cys277Tyr chr2 234462935 234462938 VAR_036035 + O60656:p.Ser442Ile chr4 70642799 70642802 VAR_024686 - Q9Y4X1:p.Gly308Arg chr5 36001724 36001727 VAR_034791 - Q6NUS8:p.Cys121Gly chr5 36071583 36071586 VAR_036036 - Q3SY77:p.Arg515His chr4 69341611 69341614 VAR_018348 - P54855:p.Lys523Thr chr2 64024599 64024602 VAR_033042 + Q16851:p.Met268Ile chr9 6411016 6411019 VAR_035961 + Q96PU4:p.Ile87Asn chr17 30500113 30500116 VAR_027506 + Q8IWX7:p.Val60Ile chr17 30521001 30521004 VAR_035870 + Q8IWX7:p.Asp496His chr17 30537448 30537451 VAR_027507 + Q8IWX7:p.Ile852Asn chr22 37458704 37458707 VAR_024624 - Q9UH99:p.Gly671Ser chr6 167689846 167689849 VAR_022650 + Q86WB7:p.Val292Ile chr6 167699135 167699138 VAR_022651 + Q86WB7:p.Tyr387His chr6 167699183 167699186 VAR_022652 + Q86WB7:p.Met403Thr chr6 167699201 167699204 VAR_022653 + Q86WB7:p.Val409Ile chr6 167699309 167699312 VAR_022654 + Q86WB7:p.Val445Ala chr10 72721445 72721448 VAR_019730 + Q8IZJ1:p.Ala516Thr chr4 96827075 96827078 VAR_019731 - O95185:p.Gly37Val chr12 108004085 108004088 VAR_017094 + P13051:p.Phe251Ser chr19 48863573 48863576 VAR_016322 - Q03405:p.Glu55Gly chr19 48861359 48861362 VAR_016323 - Q03405:p.Thr86Ala chr19 48852627 48852630 VAR_016324 - Q03405:p.Arg105Gln chr19 48848310 48848313 VAR_016325 - Q03405:p.Lys220Arg chr19 48845046 48845049 VAR_016326 - Q03405:p.Asn281Lys chr19 48844938 48844941 VAR_014922 - Q03405:p.Leu317Pro chr19 40860752 40860755 VAR_020094 + O00322:p.Met257Thr chr22 44003840 44003843 VAR_020158 + O75631:p.Ala154Pro chr7 75789132 75789135 VAR_034561 + Q9BT76:p.Gln293Arg chr2 158784110 158784113 VAR_024431 + O95045:p.Arg10Ser chr2 158797171 158797174 VAR_034580 + O95045:p.Met78Leu chr17 77925924 77925927 VAR_035768 + Q9UKP6:p.Ser146Arg chr21 42378504 42378507 VAR_025668 + Q5DID0:p.Val173Leu chr21 42383505 42383508 VAR_025669 + Q5DID0:p.Asn274Asp chr21 42383505 42383508 VAR_025670 + Q5DID0:p.Asn274His chr21 42397085 42397088 VAR_025671 + Q5DID0:p.Arg447Gln chr21 42404075 42404078 VAR_025672 + Q5DID0:p.Met559Thr chr21 42404699 42404702 VAR_025673 + Q5DID0:p.Ile639Thr chr21 42404876 42404879 VAR_025674 + Q5DID0:p.Thr698Pro chr21 42412361 42412364 VAR_025675 + Q5DID0:p.Val850Ile chr21 42416260 42416263 VAR_025676 + Q5DID0:p.Ser1027Asn chr21 42419577 42419580 VAR_025677 + Q5DID0:p.Gly1068Ser chr21 42420233 42420236 VAR_025678 + Q5DID0:p.Glu1115Lys chr21 42420941 42420944 VAR_025679 + Q5DID0:p.Asp1208Asn chr21 42430766 42430769 VAR_025680 + Q5DID0:p.Asn1309His chr16 20267892 20267895 VAR_025950 - P07911:p.Cys77Tyr chr16 20267832 20267847 VAR_025951 - P07911:p.Val93_Gly97delinsAlaAlaSerCys chr16 20267814 20267817 VAR_017666 - P07911:p.Gly103Cys chr16 20267745 20267748 VAR_025952 - P07911:p.Cys126Arg chr16 20267739 20267742 VAR_025953 - P07911:p.Asn128Ser chr16 20267679 20267682 VAR_025954 - P07911:p.Cys148Trp chr16 20267679 20267682 VAR_017667 - P07911:p.Cys148Tyr chr16 20267673 20267676 VAR_025955 - P07911:p.Cys150Ser chr16 20267472 20267475 VAR_017668 - P07911:p.Cys217Arg chr16 20267454 20267457 VAR_025956 - P07911:p.Cys223Tyr chr16 20267448 20267451 VAR_025957 - P07911:p.Thr225Lys chr16 20267379 20267382 VAR_025958 - P07911:p.Cys248Trp chr16 20267358 20267361 VAR_025959 - P07911:p.Cys255Tyr chr16 20267118 20267121 VAR_025960 - P07911:p.Cys300Gly chr16 20267073 20267076 VAR_025961 - P07911:p.Cys315Arg chr16 20267067 20267070 VAR_025962 - P07911:p.Cys317Tyr chr19 17228432 17228435 VAR_027753 - Q8N6Y0:p.Met439Val chr19 17227310 17227313 VAR_027754 - Q8N6Y0:p.Val525Met chr17 70430619 70430622 VAR_023739 - Q495M9:p.Leu48Pro chr1 212983698 212983701 VAR_025760 - O75445:p.Ala125Thr chr1 212980412 212980415 VAR_025761 - O75445:p.Cys163Tyr chr1 212926819 212926822 VAR_025762 - O75445:p.Val218Glu chr1 212926783 212926786 VAR_025763 - O75445:p.Val230Met chr1 212887227 212887230 VAR_025764 - O75445:p.Cys319Tyr chr1 212887182 212887185 VAR_025765 - O75445:p.Arg334Trp chr1 212887146 212887149 VAR_025766 - O75445:p.Asn346His chr1 212885975 212885978 VAR_025767 - O75445:p.Cys419Phe chr1 212885326 212885329 VAR_025768 - O75445:p.Glu478Asp chr1 212883655 212883658 VAR_025769 - O75445:p.Cys536Arg chr1 212854086 212854089 VAR_025770 - O75445:p.Leu555Val chr1 212853921 212853924 VAR_025771 - O75445:p.His610Pro chr1 212851055 212851058 VAR_025772 - O75445:p.Asp644Val chr1 212812697 212812700 VAR_025773 - O75445:p.Asp703Glu chr1 212812667 212812670 VAR_025774 - O75445:p.Gly713Arg chr1 212808853 212808856 VAR_025775 - O75445:p.Cys759Phe chr1 212808847 212808850 VAR_025776 - O75445:p.Pro761Arg chr1 212808607 212808610 VAR_025777 - O75445:p.Ser841Tyr chr1 212737157 212737160 VAR_025778 - O75445:p.Arg1486Lys chr1 212737070 212737073 VAR_025779 - O75445:p.Thr1515Met chr1 212646606 212646609 VAR_038362 - O75445:p.Ile1665Thr chr1 212608174 212608177 VAR_038363 - O75445:p.Ile2106Thr chr1 212560773 212560776 VAR_038364 - O75445:p.Ile2169Thr chr1 212439550 212439553 VAR_038365 - O75445:p.Arg2875Gln chr1 212399801 212399804 VAR_038366 - O75445:p.Asn3099Ser chr1 212378871 212378874 VAR_038367 - O75445:p.Asp3144Asn chr1 212375614 212375617 VAR_034064 - O75445:p.Asn3199Asp chr1 212351972 212351975 VAR_038368 - O75445:p.Ile3335Met chr1 212237302 212237305 VAR_025780 - O75445:p.Arg4115Cys chr1 212236372 212236375 VAR_025781 - O75445:p.Thr4425Met chr1 212232819 212232822 VAR_038369 - O75445:p.Arg4674Gly chrY 13329662 13329665 VAR_029328 + O00507:p.Pro1035Ser chr13 30103259 30103262 VAR_030916 + Q5W0Q7:p.Glu173Gly chr13 30119105 30119108 VAR_030917 + Q5W0Q7:p.Pro384Ser chr13 30129777 30129780 VAR_030918 + Q5W0Q7:p.Ala522Pro chr13 30129804 30129807 VAR_030919 + Q5W0Q7:p.Leu531Ser chr13 30130428 30130431 VAR_030920 + Q5W0Q7:p.Ser739Cys chr13 30131061 30131064 VAR_030921 + Q5W0Q7:p.Ser950Asn chr13 30131340 30131343 VAR_030922 + Q5W0Q7:p.Thr1043Ser chrX 128784415 128784418 VAR_022811 + Q9BVJ6:p.Val487Ala chr13 51501193 51501196 VAR_022812 + Q5TAP6:p.Gly85Val chr13 51501241 51501244 VAR_022813 + Q5TAP6:p.Thr101Ala chr18 41564412 41564415 VAR_022319 + Q13336:p.Glu44Lys chr18 41573516 41573519 VAR_005669 + Q13336:p.Asp280Asn chr18 41573549 41573552 VAR_013752 + Q13336:p.Ser291Pro chr11 61946378 61946381 VAR_012045 + P11684:p.Arg56Gly chr11 61946414 61946417 VAR_012046 + P11684:p.Thr68Ala chr12 100196000 100196003 VAR_022162 + O75691:p.Ser502Cys chr12 100248348 100248351 VAR_036274 + O75691:p.Lys1645Ile chr12 100271959 100271962 VAR_036275 + O75691:p.Ile2452Phe chr12 100279463 100279466 VAR_022163 + O75691:p.Glu2612Gln chr8 117853019 117853022 VAR_032031 + Q9BRU9:p.His170Arg chr8 117853094 117853097 VAR_032032 + Q9BRU9:p.Lys195Gln chr8 117853154 117853157 VAR_032033 + Q9BRU9:p.Pro215Leu chr17 27250849 27250852 VAR_031222 - Q9NYH9:p.Lys35Arg chr17 27246113 27246116 VAR_026668 - Q9NYH9:p.Gln69Arg chr1 7844001 7844004 VAR_029313 - O95399:p.Ser74Asn chrX 44489138 44489141 VAR_014492 + O15550:p.Ala30Thr chrX 44678208 44678211 VAR_014493 + O15550:p.Gln497His chrX 44685329 44685332 VAR_020313 + O15550:p.Thr726Lys chrX 44698989 44698992 VAR_035871 + O15550:p.Leu1106Arg chr12 61830865 61830868 VAR_022065 - P37288:p.Gly6Ser chr1 202767699 202767702 VAR_025159 + P47901:p.Lys65Asn chr1 202768077 202768080 VAR_025160 + P47901:p.Gly191Arg chr1 202768305 202768308 VAR_025161 + P47901:p.Ser267Gly chr1 202774023 202774026 VAR_025162 + P47901:p.Arg364His chrX 152691464 152691467 VAR_003516 + P30518:p.Thr7Ser chrX 152691840 152691843 VAR_015296 + P30518:p.Gly12Glu chrX 152691930 152691933 VAR_011858 + P30518:p.Ala42Val chrX 152691933 152691936 VAR_015297 + P30518:p.Leu43Pro chrX 152691936 152691939 VAR_003517 + P30518:p.Leu44Pro chrX 152691942 152691945 VAR_015298 + P30518:p.Ile46Lys chrX 152691963 152691966 VAR_015299 + P30518:p.Leu53Arg chrX 152691969 152691972 VAR_015300 + P30518:p.Asn55Asp chrX 152691969 152691972 VAR_015301 + P30518:p.Asn55His chrX 152691981 152691984 VAR_015302 + P30518:p.Leu59Pro chrX 152691987 152691990 VAR_015303 + P30518:p.Ala61Val chrX 152691990 152691999 VAR_003518 + P30518:p.62_64del chrX 152691990 152691993 VAR_015304 + P30518:p.Leu62Pro chrX 152691996 152691999 VAR_003519 + P30518:p.Arg64Trp chrX 152692044 152692047 VAR_003520 + P30518:p.His80Arg chrX 152692047 152692050 VAR_015305 + P30518:p.Leu81Phe chrX 152692053 152692056 VAR_015306 + P30518:p.Leu83Pro chrX 152692053 152692056 VAR_015307 + P30518:p.Leu83Gln chrX 152692056 152692059 VAR_015308 + P30518:p.Ala84Asp chrX 152692059 152692062 VAR_015309 + P30518:p.Asp85Asn chrX 152692068 152692071 VAR_003521 + P30518:p.Val88Met chrX 152692080 152692083 VAR_015310 + P30518:p.Gln92Arg chrX 152692086 152692089 VAR_015311 + P30518:p.Leu94Gln chrX 152692089 152692092 VAR_015312 + P30518:p.Pro95Leu chrX 152692101 152692104 VAR_015313 + P30518:p.Trp99Arg chrX 152692116 152692119 VAR_015314 + P30518:p.Arg104Cys chrX 152692119 152692122 VAR_015315 + P30518:p.Phe105Val chrX 152692122 152692125 VAR_003522 + P30518:p.Arg106Cys chrX 152692125 152692128 VAR_015316 + P30518:p.Gly107Glu chrX 152692140 152692143 VAR_003523 + P30518:p.Cys112Arg chrX 152692140 152692143 VAR_015317 + P30518:p.Cys112Tyr chrX 152692143 152692146 VAR_003524 + P30518:p.Arg113Trp chrX 152692170 152692173 VAR_015318 + P30518:p.Gly122Arg chrX 152692173 152692176 VAR_015319 + P30518:p.Met123Lys chrX 152692182 152692185 VAR_003525 + P30518:p.Ser126Phe chrX 152692185 152692188 VAR_015320 + P30518:p.Ser127Phe chrX 152692188 152692191 VAR_003526 + P30518:p.Tyr128Ser chrX 152692194 152692197 VAR_015321 + P30518:p.Ile130Phe chrX 152692200 152692203 VAR_003527 + P30518:p.Ala132Asp chrX 152692209 152692212 VAR_015322 + P30518:p.Leu135Pro chrX 152692215 152692218 VAR_025901 + P30518:p.Arg137Cys chrX 152692215 152692218 VAR_003528 + P30518:p.Arg137His chrX 152692215 152692218 VAR_025902 + P30518:p.Arg137Leu chrX 152692221 152692224 VAR_015323 + P30518:p.Arg139Ser chrX 152692233 152692236 VAR_003529 + P30518:p.Arg143Pro chrX 152692245 152692248 VAR_003530 + P30518:p.Ala147Val chrX 152692293 152692296 VAR_015324 + P30518:p.Ala163Pro chrX 152692296 152692299 VAR_003531 + P30518:p.Trp164Ser chrX 152692305 152692308 VAR_003532 + P30518:p.Ser167Leu chrX 152692305 152692308 VAR_003533 + P30518:p.Ser167Thr chrX 152692323 152692326 VAR_015325 + P30518:p.Pro173Ser chrX 152692326 152692329 VAR_015326 + P30518:p.Gln174Leu chrX 152692347 152692350 VAR_003534 + P30518:p.Arg181Cys chrX 152692359 152692362 VAR_003535 + P30518:p.Gly185Cys chrX 152692377 152692380 VAR_015327 + P30518:p.Asp191Gly chrX 152692407 152692410 VAR_015328 + P30518:p.Gly201Asp chrX 152692410 152692413 VAR_003536 + P30518:p.Arg202Cys chrX 152692413 152692416 VAR_003537 + P30518:p.Arg203Cys chrX 152692416 152692419 VAR_015329 + P30518:p.Thr204Asn chrX 152692419 152692422 VAR_003538 + P30518:p.Tyr205Cys chrX 152692422 152692425 VAR_015330 + P30518:p.Val206Asp chrX 152692425 152692428 VAR_015331 + P30518:p.Thr207Asn chrX 152692431 152692434 VAR_015332 + P30518:p.Ile209Phe chrX 152692446 152692449 VAR_015333 + P30518:p.Phe214Ser chrX 152692449 152692452 VAR_015334 + P30518:p.Val215Met chrX 152692455 152692458 VAR_015335 + P30518:p.Pro217Thr chrX 152692461 152692464 VAR_015336 + P30518:p.Leu219Pro chrX 152692461 152692464 VAR_015337 + P30518:p.Leu219Arg chrX 152692545 152692557 VAR_003539 + P30518:p.247_250del chrX 152692545 152692548 VAR_035769 + P30518:p.Arg247His chrX 152692560 152692563 VAR_015338 + P30518:p.Arg252Trp chrX 152692620 152692623 VAR_015339 + P30518:p.Met272Lys chrX 152692635 152692638 VAR_015340 + P30518:p.Val277Ala chrX 152692635 152692638 VAR_003540 + P30518:p.277del chrX 152692644 152692647 VAR_003541 + P30518:p.Tyr280Cys chrX 152692650 152692653 VAR_015341 + P30518:p.Leu282Pro chrX 152692659 152692662 VAR_003542 + P30518:p.Ala285Pro chrX 152692662 152692665 VAR_003543 + P30518:p.Pro286Leu chrX 152692662 152692665 VAR_003544 + P30518:p.Pro286Arg chrX 152692662 152692665 VAR_015342 + P30518:p.Pro286Ser chrX 152692665 152692668 VAR_015343 + P30518:p.Phe287Leu chrX 152692671 152692674 VAR_015344 + P30518:p.Leu289Pro chrX 152692680 152692683 VAR_003545 + P30518:p.Leu292Pro chrX 152692686 152692689 VAR_015345 + P30518:p.Ala294Pro chrX 152692837 152692840 VAR_003546 + P30518:p.Leu309Pro chrX 152692837 152692840 VAR_015346 + P30518:p.Leu309Arg chrX 152692855 152692858 VAR_015347 + P30518:p.Ser315Arg chrX 152692861 152692864 VAR_003547 + P30518:p.Asn317Lys chrX 152692864 152692867 VAR_015348 + P30518:p.Ser318Thr chrX 152692867 152692870 VAR_015349 + P30518:p.Cys319Arg chrX 152692873 152692876 VAR_015350 + P30518:p.Asn321Asp chrX 152692873 152692876 VAR_015351 + P30518:p.Asn321Lys chrX 152692873 152692876 VAR_015352 + P30518:p.Asn321Tyr chrX 152692876 152692879 VAR_015353 + P30518:p.Pro322His chrX 152692876 152692879 VAR_015354 + P30518:p.Pro322Ser chrX 152692879 152692882 VAR_015355 + P30518:p.Trp323Arg chrX 152692879 152692882 VAR_003548 + P30518:p.Trp323Ser chrX 152692966 152692969 VAR_015356 + P30518:p.Gly352Asp chr8 87231630 87231633 VAR_032039 + Q8N8Y2:p.Gly272Arg chr8 87232876 87232879 VAR_032040 + Q8N8Y2:p.Glu295Lys chr10 50488822 50488825 VAR_029152 + Q16572:p.Arg11Gln chr10 50488828 50488831 VAR_020034 + Q16572:p.Ala13Pro chr10 50488876 50488879 VAR_020035 + Q16572:p.Arg29Trp chr1 115918464 115918467 VAR_027143 + Q8TAA9:p.Ala116Thr chr1 115918833 115918836 VAR_035209 + Q8TAA9:p.Val239Ile chr1 115937033 115937036 VAR_035210 + Q8TAA9:p.Arg274Gln chr1 115938641 115938644 VAR_035211 + Q8TAA9:p.Met328Thr chr1 115938698 115938701 VAR_035435 + Q8TAA9:p.Glu347Ala chr20 56426779 56426782 VAR_026743 + O95292:p.Pro56Ser chr16 4372028 4372031 VAR_025991 + Q6EMK4:p.Glu384Ala chr2 10859490 10859493 VAR_032041 + Q8NEY4:p.Asn143Asp chr22 16470589 16470592 VAR_036565 - P36543:p.Arg50Gly chr1 44111852 44111855 VAR_035703 + Q99437:p.Val155Met chr1 108019766 108019769 VAR_033522 - Q9UKW4:p.Thr298Ser chr1 107897342 107897345 VAR_033523 - Q9UKW4:p.Gln618His chr2 71071875 71071878 VAR_020152 + Q9UIW0:p.Pro254Arg chr1 100906706 100906709 VAR_014309 + P19320:p.Ser318Phe chr1 100906904 100906907 VAR_014310 + P19320:p.Thr384Ala chr1 100908806 100908809 VAR_014311 + P19320:p.Gly413Ala chr1 100915785 100915788 VAR_014312 + P19320:p.Ile716Leu chrX 8243269 8243272 VAR_037644 + Q9H321:p.Lys15Thr chr12 46559064 46559067 VAR_004656 - P11473:p.Gly33Asp chr12 46559058 46559061 VAR_004657 - P11473:p.His35Gln chr12 46559028 46559031 VAR_004658 - P11473:p.Lys45Glu chr12 46559025 46559028 VAR_004659 - P11473:p.Gly46Asp chr12 46559022 46559025 VAR_004660 - P11473:p.Phe47Ile chr12 46545223 46545226 VAR_004661 - P11473:p.Arg50Gln chr12 46545154 46545157 VAR_004662 - P11473:p.Arg73Gln chr12 46545133 46545136 VAR_004663 - P11473:p.Arg80Gln chr12 46535744 46535747 VAR_029309 - P11473:p.Leu230Val chr12 46526791 46526794 VAR_004664 - P11473:p.Arg274Leu chr12 46526493 46526496 VAR_004665 - P11473:p.His305Gln chr12 46526466 46526469 VAR_004666 - P11473:p.Ile314Ser chr12 46524993 46524996 VAR_029310 - P11473:p.Thr362Ile chr12 46524906 46524909 VAR_004667 - P11473:p.Arg391Cys chr10 134940422 134940425 VAR_035243 + O95231:p.Leu42Pro chr10 134940533 134940536 VAR_035244 + O95231:p.Met79Val chr4 55832382 55832385 VAR_042053 - P35968:p.Gln2Arg chr4 55822456 55822459 VAR_042054 - P35968:p.Val136Met chr4 55821274 55821277 VAR_042055 - P35968:p.Ala248Gly chr4 55820549 55820552 VAR_036126 - P35968:p.Arg275Leu chr4 55820483 55820486 VAR_022071 - P35968:p.Val297Ile chr4 55814857 55814860 VAR_042056 - P35968:p.Leu462Val chr4 55813901 55813904 VAR_020353 - P35968:p.Gln472His chr4 55813871 55813874 VAR_042057 - P35968:p.Cys482Arg chr4 55812954 55812957 VAR_042058 - P35968:p.Gly539Arg chr4 55809523 55809526 VAR_042059 - P35968:p.Thr689Met chr4 55805298 55805301 VAR_042060 - P35968:p.Asp814Asn chr4 55803432 55803435 VAR_036127 - P35968:p.Gly873Arg chr4 55796894 55796897 VAR_042061 - P35968:p.Ala1065Thr chr5 179989896 179989899 VAR_042062 - P35916:p.Asn149Asp chr5 179985840 179985843 VAR_042063 - P35916:p.Arg378Cys chr5 179983606 179983609 VAR_018407 - P35916:p.Thr494Ala chr5 179982412 179982415 VAR_034379 - P35916:p.Asn527Ser chr5 179981244 179981247 VAR_018408 - P35916:p.Pro641Ser chr5 179979346 179979349 VAR_018409 - P35916:p.Gly857Arg chr5 179979313 179979316 VAR_042064 - P35916:p.His868Tyr chr5 179978949 179978952 VAR_018410 - P35916:p.His890Gln chr5 179978514 179978517 VAR_018411 - P35916:p.Pro954Ser chr5 179976571 179976574 VAR_042065 - P35916:p.Thr1010Ile chr5 179976508 179976511 VAR_042066 - P35916:p.Arg1031Gln chr5 179976086 179976089 VAR_018412 - P35916:p.His1035Arg chr5 179976068 179976071 VAR_018413 - P35916:p.Arg1041Pro chr5 179976059 179976062 VAR_018414 - P35916:p.Leu1044Pro chr5 179976044 179976047 VAR_042067 - P35916:p.Asp1049Asn chr5 179973779 179973782 VAR_042068 - P35916:p.Arg1075Gln chr5 179972705 179972708 VAR_018415 - P35916:p.Pro1114Leu chr5 179972636 179972639 VAR_018416 - P35916:p.Pro1137Ser chr5 179972210 179972213 VAR_018417 - P35916:p.Arg1146His chr11 22319680 22319683 VAR_038710 + Q9P2U8:p.Thr40Ser chr11 22355763 22355766 VAR_038711 + Q9P2U8:p.Asn551Ser chr3 10158603 10158606 VAR_034562 + P40337:p.Pro25Leu chr3 10158642 10158645 VAR_005670 + P40337:p.Ser38Pro chr3 10158684 10158687 VAR_005671 + P40337:p.Glu52Lys chr3 10158717 10158720 VAR_034987 + P40337:p.Leu63Pro chr3 10158720 10158723 VAR_034988 + P40337:p.Arg64Pro chr3 10158723 10158726 VAR_034989 + P40337:p.Ser65Ala chr3 10158723 10158726 VAR_005672 + P40337:p.Ser65Leu chr3 10158723 10158726 VAR_005673 + P40337:p.Ser65Trp chr3 10158726 10158750 VAR_005674 + P40337:p.66_73del chr3 10158732 10158735 VAR_005675 + P40337:p.Ser68Trp chr3 10158738 10158741 VAR_005676 + P40337:p.Glu70Lys chr3 10158750 10158753 VAR_005677 + P40337:p.Val74Gly chr3 10158753 10158756 VAR_034990 + P40337:p.75del chr3 10158756 10158759 VAR_005679 + P40337:p.Phe76Ile chr3 10158756 10158759 VAR_005680 + P40337:p.Phe76Leu chr3 10158756 10158759 VAR_005681 + P40337:p.Phe76Ser chr3 10158756 10158759 VAR_005678 + P40337:p.76del chr3 10158762 10158765 VAR_005682 + P40337:p.Asn78His chr3 10158762 10158765 VAR_005683 + P40337:p.Asn78Ser chr3 10158762 10158765 VAR_005684 + P40337:p.Asn78Thr chr3 10158765 10158768 VAR_005685 + P40337:p.Arg79Pro chr3 10158768 10158771 VAR_005686 + P40337:p.Ser80Ile chr3 10158768 10158771 VAR_005688 + P40337:p.Ser80Asn chr3 10158768 10158771 VAR_005687 + P40337:p.Ser80Arg chr3 10158771 10158774 VAR_005689 + P40337:p.Pro81Ser chr3 10158774 10158783 VAR_005691 + P40337:p.82_84del chr3 10158774 10158777 VAR_005690 + P40337:p.Arg82Pro chr3 10158780 10158783 VAR_005692 + P40337:p.Val84Leu chr3 10158786 10158789 VAR_005693 + P40337:p.Pro86Ala chr3 10158786 10158789 VAR_008097 + P40337:p.Pro86His chr3 10158786 10158789 VAR_005694 + P40337:p.Pro86Leu chr3 10158786 10158789 VAR_005695 + P40337:p.Pro86Arg chr3 10158786 10158789 VAR_005696 + P40337:p.Pro86Ser chr3 10158792 10158795 VAR_005697 + P40337:p.Trp88Arg chr3 10158792 10158795 VAR_005698 + P40337:p.Trp88Ser chr3 10158795 10158798 VAR_005699 + P40337:p.Leu89His chr3 10158795 10158798 VAR_005700 + P40337:p.Leu89Pro chr3 10158801 10158804 VAR_005701 + P40337:p.Phe91Leu chr3 10158804 10158822 VAR_005702 + P40337:p.92_97del chr3 10158807 10158810 VAR_005703 + P40337:p.Gly93Cys chr3 10158807 10158810 VAR_005704 + P40337:p.Gly93Asp chr3 10158807 10158810 VAR_005705 + P40337:p.Gly93Ser chr3 10158816 10158819 VAR_005706 + P40337:p.Gln96Pro chr3 10158822 10158825 VAR_005707 + P40337:p.Tyr98His chr3 10158831 10158834 VAR_005708 + P40337:p.Leu101Gly chr3 10158831 10158834 VAR_005709 + P40337:p.Leu101Arg chr3 10158840 10158843 VAR_005710 + P40337:p.Gly104Ala chr3 10158843 10158846 VAR_005711 + P40337:p.Thr105Pro chr3 10158846 10158849 VAR_005712 + P40337:p.Gly106Asp chr3 10158849 10158852 VAR_034991 + P40337:p.Arg107Gly chr3 10158849 10158852 VAR_005713 + P40337:p.Arg107Pro chr3 10158861 10158864 VAR_005714 + P40337:p.Ser111Cys chr3 10158861 10158864 VAR_005715 + P40337:p.Ser111Asn chr3 10158861 10158864 VAR_005716 + P40337:p.Ser111Arg chr3 10158864 10158867 VAR_005717 + P40337:p.Tyr112His chr3 10158864 10158867 VAR_034992 + P40337:p.Tyr112Asn chr3 10158870 10158871 VAR_005718 + P40337:p.Gly114Cys chr3 10163197 10163199 VAR_005718 + P40337:p.Gly114Cys chr3 10158870 10158871 VAR_005719 + P40337:p.Gly114Arg chr3 10163197 10163199 VAR_005719 + P40337:p.Gly114Arg chr3 10158870 10158871 VAR_005720 + P40337:p.Gly114Ser chr3 10163197 10163199 VAR_005720 + P40337:p.Gly114Ser chr3 10163199 10163202 VAR_005723 + P40337:p.His115Gln chr3 10163199 10163202 VAR_008098 + P40337:p.His115Arg chr3 10163199 10163202 VAR_005722 + P40337:p.His115Tyr chr3 10163202 10163205 VAR_005724 + P40337:p.Leu116Val chr3 10163205 10163208 VAR_005725 + P40337:p.Trp117Cys chr3 10163208 10163211 VAR_005726 + P40337:p.Leu118Pro chr3 10163208 10163211 VAR_005727 + P40337:p.Leu118Arg chr3 10163211 10163214 VAR_005728 + P40337:p.Phe119Leu chr3 10163211 10163214 VAR_005729 + P40337:p.Phe119Ser chr3 10163217 10163220 VAR_005730 + P40337:p.Asp121Gly chr3 10163220 10163223 VAR_034993 + P40337:p.Ala122Ile chr3 10163232 10163235 VAR_034994 + P40337:p.Asp126Tyr chr3 10163238 10163241 VAR_005731 + P40337:p.Leu128Phe chr3 10163241 10163244 VAR_005732 + P40337:p.Leu129Leu chr3 10163244 10163247 VAR_005733 + P40337:p.Val130Leu chr3 10163247 10163250 VAR_005734 + P40337:p.Asn131Lys chr3 10163247 10163250 VAR_005735 + P40337:p.Asn131Thr chr3 10163259 10163262 VAR_034995 + P40337:p.Leu135Phe chr3 10163262 10163265 VAR_005737 + P40337:p.Phe136Cys chr3 10163262 10163265 VAR_005736 + P40337:p.Phe136Ser chr3 10163262 10163265 VAR_008099 + P40337:p.Phe136Tyr chr3 10163283 10163286 VAR_005738 + P40337:p.Asp143Glu chr3 10163289 10163292 VAR_008100 + P40337:p.Gln145His chr3 10163295 10163298 VAR_034996 + P40337:p.Ile147Thr chr3 10163298 10163301 VAR_005739 + P40337:p.148del chr3 10163301 10163304 VAR_005740 + P40337:p.Ala149Thr chr3 10163316 10163319 VAR_005741 + P40337:p.Pro154Leu chr3 10163319 10163320 VAR_005742 + P40337:p.Val155Gly chr3 10166470 10166472 VAR_005742 + P40337:p.Val155Gly chr3 10163319 10163320 VAR_008101 + P40337:p.Val155Met chr3 10166470 10166472 VAR_008101 + P40337:p.Val155Met chr3 10166472 10166475 VAR_005743 + P40337:p.Tyr156Cys chr3 10166472 10166475 VAR_005744 + P40337:p.Tyr156Asp chr3 10166472 10166475 VAR_034997 + P40337:p.Tyr156Asn chr3 10166475 10166478 VAR_005746 + P40337:p.Thr157Ile chr3 10166475 10166478 VAR_005747 + P40337:p.Thr157Thr chr3 10166478 10166481 VAR_005748 + P40337:p.Leu158Pro chr3 10166478 10166481 VAR_005749 + P40337:p.Leu158Val chr3 10166481 10166484 VAR_005750 + P40337:p.Lys159Glu chr3 10166487 10166490 VAR_005753 + P40337:p.Arg161Gly chr3 10166487 10166490 VAR_005752 + P40337:p.Arg161Pro chr3 10166487 10166490 VAR_005751 + P40337:p.Arg161Gln chr3 10166490 10166493 VAR_005754 + P40337:p.Cys162Phe chr3 10166490 10166493 VAR_005755 + P40337:p.Cys162Arg chr3 10166490 10166493 VAR_005756 + P40337:p.Cys162Trp chr3 10166490 10166493 VAR_005757 + P40337:p.Cys162Tyr chr3 10166493 10166496 VAR_034998 + P40337:p.Leu163Pro chr3 10166496 10166499 VAR_008102 + P40337:p.Gln164His chr3 10166496 10166499 VAR_005758 + P40337:p.Gln164Arg chr3 10166502 10166505 VAR_008103 + P40337:p.Val166Asp chr3 10166502 10166505 VAR_005759 + P40337:p.Val166Phe chr3 10166505 10166508 VAR_005760 + P40337:p.Arg167Gly chr3 10166505 10166508 VAR_005761 + P40337:p.Arg167Gln chr3 10166505 10166508 VAR_005762 + P40337:p.Arg167Trp chr3 10166514 10166517 VAR_005763 + P40337:p.Val170Asp chr3 10166514 10166517 VAR_005764 + P40337:p.Val170Phe chr3 10166514 10166517 VAR_005765 + P40337:p.Val170Gly chr3 10166529 10166532 VAR_005766 + P40337:p.Tyr175Asp chr3 10166532 10166535 VAR_008104 + P40337:p.Arg176Trp chr3 10166535 10166538 VAR_005767 + P40337:p.Arg177Arg chr3 10166538 10166541 VAR_005768 + P40337:p.Leu178Pro chr3 10166538 10166541 VAR_005769 + P40337:p.Leu178Gln chr3 10166544 10166547 VAR_005770 + P40337:p.Ile180Val chr3 10166556 10166559 VAR_005772 + P40337:p.Leu184Pro chr3 10166556 10166559 VAR_005771 + P40337:p.Leu184Arg chr3 10166562 10166565 VAR_005773 + P40337:p.Glu186Lys chr3 10166562 10166565 VAR_005774 + P40337:p.186del chr3 10166568 10166571 VAR_005775 + P40337:p.Leu188Pro chr3 10166568 10166571 VAR_005776 + P40337:p.Leu188Gln chr3 10166568 10166571 VAR_005777 + P40337:p.Leu188Val chr3 10166577 10166580 VAR_034999 + P40337:p.His191Asp chr3 10166580 10166583 VAR_035000 + P40337:p.Pro192Ser chr3 10166598 10166601 VAR_035001 + P40337:p.Leu198Gln chr3 10166598 10166601 VAR_005778 + P40337:p.Leu198Arg chr3 10166604 10166607 VAR_005779 + P40337:p.Arg200Trp chr2 241912836 241912839 VAR_024511 - Q00341:p.Asn418Ser chr2 241907434 241907437 VAR_036052 - Q00341:p.Lys568Asn chr2 241896106 241896109 VAR_036053 - Q00341:p.Asp939Val chr2 241889020 241889023 VAR_029279 - Q00341:p.Trp1264Leu chr10 75504583 75504586 VAR_037667 + P18206:p.Val234Leu chr10 75512262 75512265 VAR_035101 + P18206:p.Leu277Met chr10 75541726 75541729 VAR_035102 + P18206:p.Ala934Val chr10 75541753 75541756 VAR_035103 + P18206:p.Pro943Ala chr10 75541786 75541789 VAR_035104 + P18206:p.954del chr10 75541849 75541852 VAR_035105 + P18206:p.Arg975Trp chr5 102543695 102543698 VAR_038276 + O43314:p.Ala944Gly chr5 102546863 102546866 VAR_038277 + O43314:p.Glu985Lys chr5 102546917 102546920 VAR_038278 + O43314:p.Arg1003Lys chr5 102558621 102558624 VAR_038279 + O43314:p.Pro1206Gln chr5 102565195 102565198 VAR_038280 + O43314:p.Thr1232Met chr3 42552735 42552738 VAR_020021 + P32241:p.Arg445Leu chr7 158434647 158434650 VAR_011811 - P41587:p.Ala39Thr chr7 158322863 158322866 VAR_011812 - P41587:p.Arg412His chr8 95600642 95600645 VAR_036845 - Q69YN4:p.Ile753Val chr2 85692270 85692273 VAR_032979 - P38435:p.Phe299Ser chr2 85692192 85692195 VAR_005780 - P38435:p.Arg325Gln chr2 85691824 85691827 VAR_005781 - P38435:p.Leu394Arg chr2 85691207 85691210 VAR_032980 - P38435:p.Arg476Cys chr2 85691207 85691210 VAR_032981 - P38435:p.Arg476His chr2 85690746 85690749 VAR_021826 - P38435:p.Arg485Pro chr2 85690722 85690725 VAR_032982 - P38435:p.Trp493Ser chr2 85690698 85690701 VAR_015218 - P38435:p.Trp501Ser chr2 85690326 85690329 VAR_032983 - P38435:p.Gly558Arg chr10 134889038 134889041 VAR_035358 + Q76NI1:p.Glu436Gly chr10 134899448 134899451 VAR_035359 + Q76NI1:p.Gly581Ser chr10 134901041 134901044 VAR_035360 + Q76NI1:p.Leu717Pro chr16 31013464 31013467 VAR_021821 - Q9BQB6:p.Val29Leu chr16 31013416 31013419 VAR_021822 - Q9BQB6:p.Val45Ala chr16 31010153 31010156 VAR_021824 - Q9BQB6:p.Arg98Trp chr16 31010063 31010066 VAR_021825 - Q9BQB6:p.Leu128Arg chr9 2625544 2625547 VAR_011865 + P98155:p.Val59Ile chr9 2633494 2633497 VAR_025063 + P98155:p.Pro262His chr9 2634801 2634804 VAR_011866 + P98155:p.Glu379Lys chr9 2635650 2635653 VAR_025064 + P98155:p.Leu464Ile chr9 2636529 2636532 VAR_025065 + P98155:p.Ile561Val chr9 2638221 2638224 VAR_025066 + P98155:p.Arg613His chr9 2641908 2641911 VAR_025067 + P98155:p.Val791Ile chr8 20082743 20082746 VAR_021856 - P54219:p.Thr4Pro chr8 20081177 20081180 VAR_024632 - P54219:p.Ala74Val chr8 20081153 20081156 VAR_029149 - P54219:p.Phe82Cys chr8 20081147 20081150 VAR_024633 - P54219:p.Phe84Ser chr8 20081105 20081108 VAR_020033 - P54219:p.Ser98Thr chr8 20081096 20081099 VAR_024634 - P54219:p.Ala101Pro chr8 20080991 20080994 VAR_012065 - P54219:p.Ile136Thr chr8 20080979 20080982 VAR_029150 - P54219:p.Gly140Arg chr8 20080280 20080283 VAR_024635 - P54219:p.Ile164Met chr8 20076176 20076179 VAR_029151 - P54219:p.Ile202Thr chr8 20073262 20073265 VAR_024636 - P54219:p.Val249Ile chr8 20049831 20049834 VAR_024637 - P54219:p.Leu392Val chr17 4636051 4636054 VAR_034584 - Q7Z5L0:p.Thr77Ser chr19 62659249 62659252 VAR_022795 - Q9GZP7:p.Ile139Thr chr19 62658943 62658946 VAR_022796 - Q9GZP7:p.Ser241Phe chr19 62658859 62658862 VAR_022797 - Q9GZP7:p.Ala269Asp chr19 58453551 58453554 VAR_022798 + Q8NFZ6:p.Cys38Arg chr6 133076789 133076792 VAR_023529 - O95497:p.Thr26Ile chr6 133076678 133076681 VAR_023967 - O95497:p.Ala63Thr chr6 133056962 133056965 VAR_023968 - O95497:p.Asn131Ser chr6 133056947 133056950 VAR_023969 - O95497:p.Val136Leu chr6 133056917 133056920 VAR_023970 - O95497:p.Asp146Asn chr6 133055354 133055357 VAR_023971 - O95497:p.Glu296Asp chr6 133055267 133055270 VAR_023972 - O95497:p.Ala325Glu chr6 133055234 133055237 VAR_023973 - O95497:p.Thr336Ala chr6 133055123 133055126 VAR_023974 - O95497:p.Ile373Thr chr6 133120664 133120667 VAR_025177 - O95498:p.Thr17Asn chr6 133120625 133120628 VAR_031261 - O95498:p.Val30Ala chr6 133120255 133120258 VAR_025178 - O95498:p.Asp112Glu chr6 133115395 133115398 VAR_025179 - O95498:p.Val241Ile chr6 133114129 133114132 VAR_025180 - O95498:p.Thr349Ser chr6 133112685 133112688 VAR_023530 - O95498:p.Leu404Met chr9 77049862 77049865 VAR_038420 + Q96RL7:p.Ile90Lys chr9 77053987 77053990 VAR_036324 + Q96RL7:p.Arg161His chr9 77159075 77159078 VAR_012803 + Q96RL7:p.Ser1452Pro chr9 77205060 77205063 VAR_038421 + Q96RL7:p.Tyr2721Cys chr8 100798621 100798624 VAR_017759 + Q7Z7G8:p.Leu2193Arg chr8 100802346 100802349 VAR_038422 + Q7Z7G8:p.Tyr2341Cys chr8 100865796 100865799 VAR_038423 + Q7Z7G8:p.Gly2645Asp chr8 100901433 100901436 VAR_038424 + Q7Z7G8:p.Asn2993Ser chr8 100901457 100901460 VAR_036325 + Q7Z7G8:p.Leu3001Val chr15 60103325 60103328 VAR_029548 - Q709C8:p.Arg153His chr15 60046927 60046930 VAR_029549 - Q709C8:p.Arg974Lys chr15 60042278 60042281 VAR_029550 - Q709C8:p.Ile1132Val chr15 60041081 60041084 VAR_029551 - Q709C8:p.Tyr1302Cys chr15 60031315 60031318 VAR_029552 - Q709C8:p.Thr1485Ala chr15 60030486 60030489 VAR_029553 - Q709C8:p.Ile1495Val chr15 60026783 60026786 VAR_029554 - Q709C8:p.Ser1592Tyr chr15 60001896 60001899 VAR_029555 - Q709C8:p.Val2322Met chr15 59989772 59989775 VAR_029556 - Q709C8:p.Ser2913Asn chr1 12316137 12316140 VAR_029560 + Q5THJ4:p.Ser1707Phe chr15 89366393 89366396 VAR_018983 - Q9H267:p.Leu30Pro chr8 17176811 17176814 VAR_032287 + Q8NEZ2:p.Ile206Phe chr8 17176832 17176835 VAR_032288 + Q8NEZ2:p.Ile213Val chr22 20924090 20924093 VAR_024503 + P12018:p.Asp76Asn chr22 20924228 20924231 VAR_029133 + P12018:p.Ser122Leu chr22 20924258 20924261 VAR_029134 + P12018:p.Glu132Lys chr15 38982645 38982648 VAR_035950 + Q9P253:p.Ala913Ser chr18 59228624 59228627 VAR_023385 - O75351:p.Ile58Met chr1 147962333 147962336 VAR_035803 - Q15906:p.Ile318Val chr2 58222885 58222888 VAR_041293 + Q86Y07:p.Asn50Asp chr2 58228434 58228437 VAR_041294 + Q86Y07:p.Ile157Met chr2 58228464 58228467 VAR_017095 + Q86Y07:p.Ile167Val chr20 25008142 25008145 VAR_014243 - Q9NZR4:p.Asp144Glu chr20 25008097 25008100 VAR_014244 - Q9NZR4:p.Leu159Met chr20 25008094 25008097 VAR_014245 - Q9NZR4:p.Gly160Asp chr20 25008076 25008079 VAR_014246 - Q9NZR4:p.Arg166Trp chr20 25006396 25006399 VAR_014247 - Q9NZR4:p.His244Arg chr20 25006387 25006390 VAR_014248 - Q9NZR4:p.Pro247Arg chr14 73796075 73796078 VAR_011618 + P58304:p.Arg200Pro chr14 73796075 73796078 VAR_011619 + P58304:p.Arg200Gln chr14 73796156 73796159 VAR_029357 + P58304:p.Arg227Trp chr17 23720817 23720820 VAR_012983 - P04004:p.Ala122Ser chr17 23720041 23720044 VAR_012984 - P04004:p.Arg268Gln chr17 23718986 23718989 VAR_012985 - P04004:p.Thr400Met chr10 115998486 115998489 VAR_035418 + Q5GFL6:p.Ala9Thr chr10 116022507 116022510 VAR_035419 + Q5GFL6:p.Glu131Gly chr10 116022525 116022528 VAR_036641 + Q5GFL6:p.Leu137Arg chr7 49592649 49592652 VAR_035371 + Q2TAL6:p.Ala120Gly chr11 60783064 60783067 VAR_038782 - Q96DN2:p.Pro842Arg chr12 6054816 6054819 VAR_010242 - P04275:p.Arg273Trp chr12 6050748 6050751 VAR_005782 - P04275:p.Trp377Cys chr12 6042461 6042464 VAR_024553 - P04275:p.His484Arg chr12 6037420 6037423 VAR_005783 - P04275:p.Asn528Ser chr12 6037354 6037357 VAR_005784 - P04275:p.Gly550Arg chr12 6023795 6023798 VAR_009141 - P04275:p.Cys788Tyr chr12 6023792 6023795 VAR_005785 - P04275:p.Thr789Ala chr12 6023786 6023789 VAR_005786 - P04275:p.Thr791Met chr12 6015912 6015915 VAR_005787 - P04275:p.Arg816Trp chr12 6014237 6014240 VAR_005789 - P04275:p.Arg854Gln chr12 6014228 6014231 VAR_005790 - P04275:p.Asn857Asp chr12 6005048 6005051 VAR_028446 - P04275:p.Cys1060Arg chr12 5999046 5999049 VAR_005791 - P04275:p.Pro1266Leu chr12 5999040 5999043 VAR_005792 - P04275:p.His1268Asp chr12 5999028 5999031 VAR_005793 - P04275:p.Cys1272Arg chr12 5998926 5998929 VAR_005794 - P04275:p.Arg1306Trp chr12 5998920 5998923 VAR_005795 - P04275:p.Arg1308Cys chr12 5998905 5998908 VAR_005796 - P04275:p.Trp1313Cys chr12 5998902 5998905 VAR_005797 - P04275:p.Val1314Leu chr12 5998896 5998899 VAR_005798 - P04275:p.Val1316Met chr12 5998890 5998893 VAR_005799 - P04275:p.Val1318Leu chr12 5998872 5998875 VAR_005800 - P04275:p.Gly1324Ser chr12 5998821 5998824 VAR_005801 - P04275:p.Arg1341Gln chr12 5998722 5998725 VAR_005802 - P04275:p.Arg1374Cys chr12 5998722 5998725 VAR_005803 - P04275:p.Arg1374His chr12 5998647 5998650 VAR_005805 - P04275:p.Arg1399His chr12 5998464 5998467 VAR_005806 - P04275:p.Leu1460Val chr12 5998461 5998464 VAR_005807 - P04275:p.Ala1461Val chr12 5998302 5998305 VAR_005808 - P04275:p.Phe1514Cys chr12 5998224 5998227 VAR_005809 - P04275:p.Leu1540Pro chr12 5998149 5998152 VAR_014630 - P04275:p.Val1565Leu chr12 5998134 5998137 VAR_036276 - P04275:p.Tyr1570Cys chr12 5998092 5998095 VAR_005810 - P04275:p.Tyr1584Cys chr12 5998053 5998056 VAR_005811 - P04275:p.Arg1597Gly chr12 5998053 5998056 VAR_005812 - P04275:p.Arg1597Gln chr12 5998053 5998056 VAR_005813 - P04275:p.Arg1597Trp chr12 5998023 5998026 VAR_005814 - P04275:p.Val1607Asp chr12 5998017 5998020 VAR_005815 - P04275:p.Gly1609Arg chr12 5998005 5998008 VAR_005816 - P04275:p.Ser1613Pro chr12 5997960 5997963 VAR_005817 - P04275:p.Ile1628Thr chr12 5997930 5997933 VAR_005818 - P04275:p.Glu1638Lys chr12 5997900 5997903 VAR_005819 - P04275:p.Pro1648Ser chr12 5997849 5997852 VAR_005820 - P04275:p.Val1665Glu chr12 5973908 5973911 VAR_009142 - P04275:p.Pro2063Ser chr12 5961413 5961416 VAR_009143 - P04275:p.Cys2362Phe chr12 5948728 5948731 VAR_009144 - P04275:p.Asn2546Tyr chr12 5929248 5929251 VAR_005821 - P04275:p.Cys2739Tyr chr12 5928564 5928567 VAR_005822 - P04275:p.Cys2773Arg chr10 28924780 28924783 VAR_028838 + Q9BTA9:p.Ser242Arg chr10 28940842 28940845 VAR_036351 + Q9BTA9:p.Ser475Leu chr10 28945141 28945144 VAR_028839 + Q9BTA9:p.Thr531Ser chr10 88267434 88267437 VAR_026967 - Q7Z5K2:p.Val124Ile chrX 48298570 48298573 VAR_005823 + P42768:p.Leu27Phe chrX 48298579 48298582 VAR_005824 + P42768:p.30del chrX 48298582 48298585 VAR_005825 + P42768:p.Glu31Lys chrX 48298618 48298621 VAR_008105 + P42768:p.Cys43Trp chrX 48298921 48298924 VAR_008106 + P42768:p.Thr45Met chrX 48298930 48298933 VAR_005826 + P42768:p.Thr48Ile chrX 48298942 48298945 VAR_012710 + P42768:p.Gln52His chrX 48298954 48298957 VAR_005827 + P42768:p.Ala56Val chrX 48298960 48298963 VAR_022806 + P42768:p.Pro58Leu chrX 48298960 48298963 VAR_033255 + P42768:p.Pro58Arg chrX 48298996 48298999 VAR_012711 + P42768:p.Gly70Trp chrX 48299005 48299008 VAR_008107 + P42768:p.Cys73Arg chrX 48299011 48299014 VAR_005828 + P42768:p.Val75Met chrX 48299032 48299035 VAR_005829 + P42768:p.Ser82Pro chrX 48299035 48299038 VAR_008108 + P42768:p.Tyr83Cys chrX 48299038 48299041 VAR_008109 + P42768:p.Phe84Leu chrX 48299044 48299047 VAR_005832 + P42768:p.Arg86Cys chrX 48299044 48299047 VAR_005830 + P42768:p.Arg86His chrX 48299044 48299047 VAR_005831 + P42768:p.Arg86Leu chrX 48299053 48299056 VAR_008110 + P42768:p.Gly89Asp chrX 48300200 48300203 VAR_005833 + P42768:p.Trp97Cys chrX 48300402 48300405 VAR_005834 + P42768:p.Glu131Lys chrX 48300408 48300411 VAR_005835 + P42768:p.Glu133Lys chrX 48300411 48300414 VAR_022807 + P42768:p.Ala134Thr chrX 48300772 48300773 VAR_005836 + P42768:p.Gly187Cys chrX 48301419 48301421 VAR_005836 + P42768:p.Gly187Cys chrX 48301565 48301568 VAR_005837 + P42768:p.Ala236Glu chrX 48302968 48302971 VAR_033256 + P42768:p.Leu270Pro chrX 48304045 48304048 VAR_005838 + P42768:p.Lys476Glu chrX 48304048 48304051 VAR_005839 + P42768:p.Arg477Lys chrX 48304060 48304063 VAR_033257 + P42768:p.Ile481Asn chr22 40719334 40719337 VAR_032578 + Q6ICG8:p.Gln5Glu chr22 40740554 40740557 VAR_032579 + Q6ICG8:p.Asp121Gly chr22 40742853 40742856 VAR_032580 + Q6ICG8:p.Cys170Phe chr22 40747607 40747610 VAR_032581 + Q6ICG8:p.Gln285His chr13 40540770 40540773 VAR_036352 + O75554:p.Lys113Arg chr7 73934134 73934137 VAR_027972 - Q96I51:p.Arg30Gly chr7 72542302 72542305 VAR_024433 - Q96LL9:p.Gly34Arg chr7 72720214 72720217 VAR_036813 + Q6UE05:p.Ile14Asn chr7 72724108 72724111 VAR_036814 + Q6UE05:p.Ala70Asp chr7 72724132 72724135 VAR_036815 + Q6UE05:p.Trp78Arg chr14 72474502 72474505 VAR_027908 + Q8WV16:p.Trp22Cys chr14 72482386 72482389 VAR_027909 + Q8WV16:p.Lys193Thr chr14 72488325 72488328 VAR_027910 + Q8WV16:p.Asn266Ser chrX 125412069 125412072 VAR_035323 - Q5VU92:p.Asp19Gly chr4 85970070 85970073 VAR_026864 - Q8IZQ1:p.Ile3032Val chr17 9456501 9456504 VAR_026057 + Q8N1V2:p.Glu336Lys chr19 941280 941283 VAR_031577 + Q9BV38:p.Ala172Thr chr19 941890 941893 VAR_031578 + Q9BV38:p.Leu213Phe chr19 942128 942131 VAR_031579 + Q9BV38:p.Val264Ile chr4 9775606 9775609 VAR_013445 - O75083:p.Ile185Val chr14 101744734 101744737 VAR_031580 + Q8TBZ3:p.Pro159His chr14 23657477 23657480 VAR_020121 + Q8TEB1:p.Arg207His chr5 110455957 110455960 VAR_025963 + Q8NI36:p.Leu25Pro chr5 110462345 110462348 VAR_025964 + Q8NI36:p.Ala163Val chr5 110464254 110464257 VAR_025965 + Q8NI36:p.Tyr216Pro chr5 110467407 110467410 VAR_024700 + Q8NI36:p.Ile264Val chr5 110467938 110467941 VAR_025966 + Q8NI36:p.Asn355Ser chr5 110469737 110469740 VAR_025967 + Q8NI36:p.Ala449Thr chr5 110473876 110473879 VAR_025968 + Q8NI36:p.Arg529Gln chr5 110482616 110482619 VAR_025969 + Q8NI36:p.Asp658Gly chr5 110482655 110482658 VAR_025970 + Q8NI36:p.Met671Val chr10 1132132 1132135 VAR_025432 + Q9Y2I8:p.Ile225Val chr1 118195515 118195518 VAR_033809 + Q9UNX4:p.Pro234Ala chr5 76796374 76796377 VAR_031215 - Q9HAD4:p.Gly61Asp chr5 76772495 76772498 VAR_031216 - Q9HAD4:p.Arg260Cys chr5 76769837 76769840 VAR_023777 - Q9HAD4:p.Val329Ile chrX 117309937 117309940 VAR_029538 + Q5JSH3:p.Ala289Thr chrX 117309958 117309961 VAR_029539 + Q5JSH3:p.Thr296Ala chr6 33362641 33362644 VAR_022025 - O15213:p.Val341Ala chr3 168804863 168804866 VAR_035889 - Q8IV35:p.Arg10His chr3 168700664 168700667 VAR_027858 - Q8IV35:p.Leu651Pro chr21 43166812 43166815 VAR_020120 - P57081:p.Lys71Asn chr21 43146924 43146927 VAR_033121 - P57081:p.Pro266Ser chr21 43143296 43143299 VAR_033122 - P57081:p.Arg390Gln chr3 197776476 197776479 VAR_035890 - Q7Z5U6:p.Ser60Cys chr3 197769454 197769457 VAR_033810 - Q7Z5U6:p.His338Pro chr5 140024828 140024831 VAR_037056 + Q9H6Y2:p.Arg50Cys chr5 140028726 140028729 VAR_037058 + Q9H6Y2:p.Ser210Phe chr5 140028889 140028892 VAR_037059 + Q9H6Y2:p.Tyr235Cys chr7 158163509 158163512 VAR_026841 + Q8WVS4:p.Glu91Gly chr7 158172093 158172096 VAR_026842 + Q8WVS4:p.Gln273Arg chr1 43318426 43318429 VAR_026850 + Q96MR6:p.Ala183Ser chr1 43318600 43318603 VAR_026851 + Q96MR6:p.Asn241Asp chr1 43321533 43321536 VAR_026852 + Q96MR6:p.Cys345Ser chr12 120843556 120843559 VAR_034624 + Q8TBY9:p.Thr388Met chr12 120854757 120854760 VAR_034625 + Q8TBY9:p.Leu450Phe chr2 228575609 228575612 VAR_026853 + Q8N136:p.Thr27Ile chr2 228584058 228584061 VAR_026854 + Q8N136:p.Thr121Ser chr2 228584082 228584085 VAR_035891 + Q8N136:p.Thr129Met chr2 228596475 228596478 VAR_033811 + Q8N136:p.Gly259Ser chr2 228597448 228597451 VAR_033812 + Q8N136:p.Leu317Phe chr15 51695237 51695240 VAR_026837 - Q3MJ13:p.Leu819Phe chr15 51695195 51695198 VAR_026838 - Q3MJ13:p.Ser833Ala chr15 82989841 82989844 VAR_035399 - Q6P4I2:p.Arg249His chr15 41945840 41945843 VAR_026863 + Q9H967:p.Ser614Gly chr17 7532721 7532724 VAR_026865 + Q9BUR4:p.Pro11Ser chr17 7532892 7532895 VAR_026866 + Q9BUR4:p.Arg68Gly chr17 7547445 7547448 VAR_026867 + Q9BUR4:p.Ala522Gly chr19 38330409 38330412 VAR_035892 + Q6ZMY6:p.Asp166His chr16 82909452 82909455 VAR_036489 + Q9HC57:p.Val138Met chr20 43617910 43617913 VAR_021910 - Q8IUA0:p.Met96Thr chr20 43617787 43617790 VAR_030861 - Q8IUA0:p.Asn137Ser chr20 43672153 43672156 VAR_021911 - Q8NEX5:p.Asn27Thr chr17 46271933 46271936 VAR_036692 + Q8TEU8:p.Val96Met chr4 6421187 6421190 VAR_011307 + O76024:p.350del chr4 6421199 6421202 VAR_009112 + O76024:p.354del chr4 6421379 6421382 VAR_029501 + O76024:p.414del chr4 6421382 6421385 VAR_009113 + O76024:p.415del chr4 6421520 6421529 VAR_014035 + O76024:p.461_463del chr4 6421541 6421544 VAR_029503 + O76024:p.468del chr4 6421661 6421676 VAR_014036 + O76024:p.508_512del chr4 6421757 6421760 VAR_029504 + O76024:p.540del chr4 6421814 6421817 VAR_010602 + O76024:p.Ala559Thr chr4 6421838 6421844 VAR_009115 + O76024:p.567_568del chr4 6421970 6421973 VAR_005843 + O76024:p.Arg611His chr15 81283808 81283811 VAR_033209 + Q8TF30:p.Gln340Lys chr15 81283823 81283826 VAR_033210 + Q8TF30:p.Arg345Gln chr15 81296818 81296821 VAR_033211 + Q8TF30:p.Arg686His chr9 114266314 114266317 VAR_036685 - Q9P202:p.Arg423Pro chr9 114266263 114266266 VAR_020593 - Q9P202:p.Ala440Thr chr9 114249792 114249795 VAR_036686 - Q9P202:p.Pro562Ala chr9 114248585 114248588 VAR_036687 - Q9P202:p.Met613Thr chr9 114245798 114245801 VAR_020594 - Q9P202:p.Val783Ala chr9 114245759 114245762 VAR_020595 - Q9P202:p.Asn796Lys chr9 114245152 114245155 VAR_020596 - Q9P202:p.Thr813Met chr12 54582339 54582342 VAR_032297 - Q9BRP8:p.Glu66Gln chr17 63960715 63960718 VAR_024848 - Q5MNZ9:p.Thr31Ile chr6 112489003 112489006 VAR_016224 + O95389:p.Gln56His chr6 112489069 112489072 VAR_016225 + O95389:p.Cys78Arg chr11 32417039 32417042 VAR_014631 + Q06250:p.Ala13Thr chr11 32417198 32417201 VAR_034563 + Q06250:p.Gly66Ala chr2 219583147 219583150 VAR_013239 + Q9GZT5:p.Pro302Thr chr12 733412 733415 VAR_041309 + Q9H4A3:p.Ala141Thr chr12 733436 733439 VAR_041310 + Q9H4A3:p.Ala149Val chr12 809530 809533 VAR_041311 + Q9H4A3:p.Glu419Gln chr12 838795 838798 VAR_041312 + Q9H4A3:p.Ile509Thr chr12 838849 838852 VAR_041313 + Q9H4A3:p.Asp527Gly chr12 841550 841553 VAR_019992 + Q9H4A3:p.Thr665Ile chr12 841577 841580 VAR_041314 + Q9H4A3:p.Thr674Ala chr12 859092 859095 VAR_041315 + Q9H4A3:p.His823Arg chr12 862926 862929 VAR_035640 + Q9H4A3:p.Glu1199Gly chr12 864866 864869 VAR_041316 + Q9H4A3:p.Ala1546Val chr12 868596 868599 VAR_035641 + Q9H4A3:p.Gln1799Glu chr12 869897 869900 VAR_041318 + Q9H4A3:p.Pro1823Leu chr12 875782 875785 VAR_041319 + Q9H4A3:p.Arg1957His chr12 880021 880024 VAR_041320 + Q9H4A3:p.Ser2190Cys chr12 888153 888156 VAR_041321 + Q9H4A3:p.Phe2362Leu chr12 888207 888210 VAR_041322 + Q9H4A3:p.Arg2380Trp chr17 38190849 38190852 VAR_041330 + Q96J92:p.Glu434Asp chr17 38193028 38193031 VAR_017588 + Q96J92:p.Glu562Lys chr17 38193034 38193037 VAR_017589 + Q96J92:p.Asp564Ala chr17 38193037 38193040 VAR_017590 + Q96J92:p.Gln565Glu chr17 38200401 38200404 VAR_041331 + Q96J92:p.Pro813Leu chr17 38201016 38201019 VAR_041332 + Q96J92:p.Pro992Ser chr17 38201182 38201185 VAR_041333 + Q96J92:p.Leu1013Pro chr17 38201787 38201790 VAR_017591 + Q96J92:p.Arg1185Cys chr7 120565711 120565714 VAR_036289 + Q9UBV4:p.Val126Met chr7 116556979 116556982 VAR_013865 - P09544:p.Leu5Arg chr7 116512345 116512348 VAR_013866 - P09544:p.Arg299Trp chr1 22214685 22214688 VAR_043497 - P56705:p.Leu12Pro chr1 22201478 22201481 VAR_043498 - P56705:p.Arg83Cys chr1 22193346 22193349 VAR_043499 - P56705:p.Ala114Val chr1 22192256 22192259 VAR_034703 - P56705:p.Glu216Gly chr10 102212945 102212948 VAR_020310 + Q93098:p.Cys11Ser chr10 102229674 102229677 VAR_036288 + Q93098:p.Glu53Gln chr8 31035598 31035601 VAR_017453 + Q14191:p.Lys32Arg chr8 31041410 31041413 VAR_036318 + Q14191:p.Gly92Val chr8 31041476 31041479 VAR_017454 + Q14191:p.Val114Ile chr8 31041989 31041992 VAR_026588 + Q14191:p.Lys125Asn chr8 31042019 31042022 VAR_026589 + Q14191:p.Lys135Glu chr8 31044099 31044102 VAR_017455 + Q14191:p.Thr172Pro chr8 31045378 31045381 VAR_017456 + Q14191:p.Asn240Lys chr8 31058054 31058057 VAR_006904 + Q14191:p.Thr324Ala chr8 31058069 31058072 VAR_020450 + Q14191:p.Gln329Arg chr8 31058111 31058114 VAR_018941 + Q14191:p.Glu343Lys chr8 31058231 31058234 VAR_020451 + Q14191:p.Leu383Phe chr8 31058231 31058234 VAR_017457 + Q14191:p.Leu383Trp chr8 31058243 31058246 VAR_006905 + Q14191:p.Met387Ile chr8 31065967 31065970 VAR_018942 + Q14191:p.Asn533Ser chr8 31068891 31068894 VAR_018943 + Q14191:p.Ser612Cys chr8 31088705 31088708 VAR_018944 + Q14191:p.Ser708Phe chr8 31088753 31088756 VAR_017458 + Q14191:p.Gln724Leu chr8 31097351 31097354 VAR_014913 + Q14191:p.Arg834Cys chr8 31101966 31101969 VAR_018945 + Q14191:p.Ile912Ser chr8 31119684 31119687 VAR_014914 + Q14191:p.Ser1079Leu chr8 31124123 31124126 VAR_018946 + Q14191:p.Ser1133Ala chr8 31131798 31131801 VAR_017459 + Q14191:p.Lys1269Glu chr8 31144111 31144114 VAR_018947 + Q14191:p.Val1339Ile chr8 31144195 31144198 VAR_006906 + Q14191:p.Cys1367Arg chr17 22652945 22652948 VAR_024701 + Q9Y6I7:p.Leu16Ser chr17 5934455 5934458 VAR_035160 + Q658N2:p.His212Tyr chr2 159957594 159957597 VAR_030791 - Q8N9V3:p.Lys215Thr chr2 159957570 159957573 VAR_030792 - Q8N9V3:p.His223Asp chr2 159938385 159938388 VAR_030793 - Q8N9V3:p.Arg320Ser chrX 9895317 9895320 VAR_036969 + Q9ULE0:p.Ala495Thr chrX 9902065 9902068 VAR_036970 + Q9ULE0:p.Tyr593Cys chr16 76706434 76706437 VAR_023916 + Q9NZC7:p.Pro98Leu chr16 76706473 76706476 VAR_023917 + Q9NZC7:p.Thr111Ser chr16 76706500 76706503 VAR_023918 + Q9NZC7:p.Arg120Trp chr16 76978275 76978278 VAR_023919 + Q9NZC7:p.Ala179Thr chr16 77023907 77023910 VAR_023920 + Q9NZC7:p.Leu272Phe chr16 77023937 77023940 VAR_023921 + Q9NZC7:p.Pro282Ala chr16 77023964 77023967 VAR_023922 + Q9NZC7:p.Leu291Pro chr16 77024033 77024036 VAR_023923 + Q9NZC7:p.Arg314His chr2 31533123 31533126 VAR_023976 - P47989:p.Glu133Lys chr2 31522791 31522794 VAR_023977 - P47989:p.Gly172Arg chr2 31521018 31521021 VAR_023978 - P47989:p.Thr235Met chr2 31514440 31514443 VAR_023979 - P47989:p.Lys395Met chr2 31508410 31508413 VAR_023980 - P47989:p.Pro555Ser chr2 31506848 31506851 VAR_023981 - P47989:p.Asp584Ala chr2 31506779 31506782 VAR_023982 - P47989:p.Arg607Gln chr2 31506749 31506752 VAR_023983 - P47989:p.Lys617Asn chr2 31504982 31504985 VAR_023984 - P47989:p.Thr623Ile chr2 31504913 31504916 VAR_023985 - P47989:p.Ile646Val chr2 31502565 31502568 VAR_023986 - P47989:p.Ile703Val chr2 31501419 31501422 VAR_035899 - P47989:p.Leu763Phe chr2 31500575 31500578 VAR_035900 - P47989:p.Arg791Gly chr2 31484641 31484644 VAR_023987 - P47989:p.Thr910Met chr2 31482041 31482044 VAR_023988 - P47989:p.Val1091Leu chr2 31481309 31481312 VAR_023989 - P47989:p.Asn1109Thr chr2 31475902 31475905 VAR_023990 - P47989:p.Arg1176Cys chr2 31472220 31472223 VAR_023991 - P47989:p.Arg1296Trp chr3 39205931 39205934 VAR_038439 - Q702N8:p.Asp3Asn chr3 39204902 39204905 VAR_038440 - Q702N8:p.Gln346Arg chr3 39204287 39204290 VAR_038441 - Q702N8:p.Arg551Gln chr3 39203153 39203156 VAR_038442 - Q702N8:p.Leu929His chr3 39203045 39203048 VAR_038443 - Q702N8:p.His965Pro chr3 39202802 39202805 VAR_038444 - Q702N8:p.Pro1046Ala chr3 39201128 39201131 VAR_038445 - Q702N8:p.Gly1604Arg chr3 39201116 39201119 VAR_038446 - Q702N8:p.Ala1608Val chr3 39201038 39201041 VAR_038447 - Q702N8:p.Arg1634Lys chr3 39200768 39200771 VAR_038448 - Q702N8:p.Ile1724Val chrX 37343255 37343258 VAR_013817 + P51811:p.Arg222Gly chrX 37343471 37343474 VAR_013818 + P51811:p.Cys294Arg chrX 37343570 37343573 VAR_023581 + P51811:p.Glu327Lys chrX 18449809 18449812 VAR_008209 - O15537:p.Leu12His chrX 18449806 18449809 VAR_008210 - O15537:p.Leu13Pro chrX 18434436 18434439 VAR_008211 - O15537:p.Cys59Ser chrX 18425098 18425101 VAR_008212 - O15537:p.Tyr65Cys chrX 18425083 18425086 VAR_008213 - O15537:p.Gly70Ala chrX 18425083 18425086 VAR_008214 - O15537:p.Gly70Ser chrX 18425077 18425080 VAR_008180 - O15537:p.Glu72Asp chrX 18425077 18425080 VAR_008181 - O15537:p.Glu72Lys chrX 18425071 18425074 VAR_008182 - O15537:p.Gly74Val chrX 18425038 18425041 VAR_023959 - O15537:p.85del chrX 18425026 18425029 VAR_008215 - O15537:p.Tyr89Cys chrX 18425005 18425008 VAR_008183 - O15537:p.Trp96Arg chrX 18424999 18425002 VAR_008216 - O15537:p.Ala98Glu chrX 18424987 18424990 VAR_008217 - O15537:p.Arg102Gln chrX 18424987 18424990 VAR_008184 - O15537:p.Arg102Trp chrX 18424984 18424987 VAR_008218 - O15537:p.Leu103Arg chrX 18424969 18424972 VAR_008219 - O15537:p.Phe108Cys chrX 18422401 18422402 VAR_008220 - O15537:p.Gly109Glu chrX 18424967 18424969 VAR_008220 - O15537:p.Gly109Glu chrX 18422401 18422402 VAR_008185 - O15537:p.Gly109Arg chrX 18424967 18424969 VAR_008185 - O15537:p.Gly109Arg chrX 18422401 18422402 VAR_008221 - O15537:p.Gly109Trp chrX 18424967 18424969 VAR_008221 - O15537:p.Gly109Trp chrX 18422398 18422401 VAR_008222 - O15537:p.Cys110Tyr chrX 18422392 18422395 VAR_008223 - O15537:p.Trp112Cys chrX 18422389 18422392 VAR_008224 - O15537:p.Leu113Phe chrX 18422347 18422350 VAR_008225 - O15537:p.Leu127Pro chrX 18422323 18422326 VAR_008226 - O15537:p.Gly135Val chrX 18422320 18422323 VAR_008227 - O15537:p.Ile136Thr chrX 18422314 18422317 VAR_008228 - O15537:p.Thr138Ala chrX 18422308 18422311 VAR_008229 - O15537:p.Gly140Glu chrX 18422308 18422311 VAR_008230 - O15537:p.Gly140Arg chrX 18422305 18422308 VAR_008231 - O15537:p.Arg141Cys chrX 18422305 18422308 VAR_008232 - O15537:p.Arg141Gly chrX 18422305 18422308 VAR_008233 - O15537:p.Arg141His chrX 18422302 18422305 VAR_008234 - O15537:p.Cys142Trp chrX 18422299 18422302 VAR_008235 - O15537:p.Asp143Val chrX 18422290 18422293 VAR_008236 - O15537:p.Glu146Asp chrX 18422290 18422293 VAR_008237 - O15537:p.Glu146Lys chrX 18422263 18422266 VAR_008238 - O15537:p.Tyr155Cys chrX 18422254 18422257 VAR_008239 - O15537:p.Asp158Asn chrX 18422239 18422242 VAR_008240 - O15537:p.Trp163Cys chrX 18419921 18419924 VAR_008241 - O15537:p.Gly178Asp chrX 18419909 18419912 VAR_008242 - O15537:p.Arg182Cys chrX 18419879 18419882 VAR_008243 - O15537:p.Pro192Arg chrX 18419879 18419882 VAR_008244 - O15537:p.Pro192Ser chrX 18419876 18419879 VAR_008245 - O15537:p.Pro193Leu chrX 18419876 18419879 VAR_008246 - O15537:p.Pro193Ser chrX 18419864 18419867 VAR_008247 - O15537:p.Arg197Cys chrX 18419864 18419867 VAR_008248 - O15537:p.Arg197His chrX 18419858 18419861 VAR_008249 - O15537:p.Ile199Thr chrX 18419855 18419858 VAR_008251 - O15537:p.Arg200Cys chrX 18419855 18419858 VAR_008252 - O15537:p.Arg200His chrX 18419846 18419849 VAR_008253 - O15537:p.Pro203Leu chrX 18419834 18419837 VAR_008254 - O15537:p.His207Gln chrX 18419828 18419831 VAR_008255 - O15537:p.Arg209His chrX 18419816 18419819 VAR_008256 - O15537:p.Arg213Trp chrX 18419810 18419813 VAR_008257 - O15537:p.Glu215Lys chrX 18419810 18419813 VAR_008258 - O15537:p.Glu215Gln chrX 18419807 18419810 VAR_008259 - O15537:p.Leu216Pro chrX 18419798 18419801 VAR_008260 - O15537:p.Cys219Gly chrX 18419798 18419801 VAR_008261 - O15537:p.Cys219Arg chrX 18419789 18419792 VAR_012078 - O15537:p.Lys222Asn chrX 18419786 18419789 VAR_008262 - O15537:p.Cys223Arg chr9 97535534 97535537 VAR_014203 - P23025:p.78del chr9 97535486 97535489 VAR_007727 - P23025:p.Pro94Leu chr9 97531468 97531471 VAR_037907 - P23025:p.Val97Ile chr9 97531435 97531438 VAR_007728 - P23025:p.Cys108Phe chr9 97528932 97528935 VAR_007730 - P23025:p.Gln185His chr9 97517413 97517416 VAR_014799 - P23025:p.Arg228Gln chr9 97517395 97517398 VAR_029325 - P23025:p.Val234Leu chr9 97517365 97517368 VAR_007731 - P23025:p.His244Arg chr9 97517341 97517344 VAR_020324 - P23025:p.Leu252Val chr16 13929440 13929443 VAR_008200 + Q92889:p.Ile214Met chr16 13936841 13936844 VAR_008205 + Q92889:p.Ile518Thr chr16 13937069 13937090 VAR_008207 + Q92889:p.594_600del chr16 13949069 13949072 VAR_013399 + Q92889:p.Ile706Thr chr20 47140763 47140766 VAR_029327 + P55060:p.Ile754Val chr20 47144159 47144162 VAR_036558 + P55060:p.Cys842Phe chr6 43625233 43625236 VAR_028032 - Q9HAV4:p.Lys610Asn chr8 21896183 21896186 VAR_026526 + Q9UIA9:p.Glu398Asp chr8 21912621 21912624 VAR_026527 + Q9UIA9:p.Cys835Tyr chr12 63105864 63105867 VAR_026528 + O43592:p.Ala526Val chr1 177537478 177537481 VAR_038350 + Q9UBH6:p.Thr491Ala chr19 48771429 48771432 VAR_014773 - P18887:p.Arg7Leu chr19 48771420 48771423 VAR_014774 - P18887:p.Val10Met chr19 48756940 48756943 VAR_016168 - P18887:p.Val72Ala chr19 48750730 48750733 VAR_029228 - P18887:p.Arg107His chr19 48749618 48749621 VAR_014775 - P18887:p.Glu157Lys chr19 48749606 48749609 VAR_014776 - P18887:p.Pro161Leu chr19 48749411 48749414 VAR_013400 - P18887:p.Arg194Trp chr19 48748250 48748253 VAR_013401 - P18887:p.Arg280His chr19 48748196 48748199 VAR_014777 - P18887:p.Lys298Asn chr19 48748178 48748181 VAR_018775 - P18887:p.Thr304Ala chr19 48748163 48748166 VAR_014778 - P18887:p.Pro309Ser chr19 48748040 48748043 VAR_036277 - P18887:p.Arg350Trp chr19 48742069 48742072 VAR_014779 - P18887:p.Ser485Tyr chr19 48741888 48741891 VAR_016169 - P18887:p.Pro514Leu chr19 48740170 48740173 VAR_014780 - P18887:p.Arg559Gln chr19 48740167 48740170 VAR_014781 - P18887:p.Arg560Trp chr7 151795506 151795509 VAR_020403 - O43543:p.Ala16Ser chr7 151783653 151783656 VAR_020404 - O43543:p.Arg188His chr7 151783554 151783557 VAR_029294 - O43543:p.Ile221Thr chr14 103243216 103243219 VAR_020405 - O43542:p.Arg94His chr14 103235504 103235507 VAR_013006 - O43542:p.Thr241Met chr14 103235230 103235233 VAR_029295 - O43542:p.Gly271Arg chr14 103235022 103235025 VAR_029296 - O43542:p.Arg302His chr5 82436527 82436530 VAR_022310 + Q13426:p.Ser12Cys chr5 82442628 82442631 VAR_022311 + Q13426:p.Ala56Thr chr5 82527428 82527431 VAR_022312 + Q13426:p.Ile134Thr chr5 82527452 82527455 VAR_022313 + Q13426:p.Glu142Gln chr5 82536468 82536471 VAR_017810 + Q13426:p.Gln240Pro chr5 82536489 82536492 VAR_017811 + Q13426:p.Ala247Ser chr20 21286401 21286404 VAR_027516 + Q9H0D6:p.Arg743Met chrX 46452804 46452807 VAR_008497 + O75695:p.6del chrX 46469260 46469263 VAR_018069 + O75695:p.Cys67Tyr chrX 46469317 46469320 VAR_018070 + O75695:p.Cys86Tyr chrX 46469344 46469347 VAR_018071 + O75695:p.Pro95Leu chrX 46469383 46469386 VAR_008498 + O75695:p.Cys108Gly chrX 46469413 46469416 VAR_026058 + O75695:p.Arg118Cys chrX 46469413 46469416 VAR_008499 + O75695:p.Arg118His chrX 46469413 46469416 VAR_018072 + O75695:p.Arg118Leu chrX 46469470 46469473 VAR_018073 + O75695:p.137del chrX 46469473 46469476 VAR_018074 + O75695:p.Glu138Gly chrX 46469623 46469626 VAR_018075 + O75695:p.Leu188Pro chrX 46469818 46469821 VAR_008500 + O75695:p.Leu253Arg chrX 46475751 46475754 VAR_014535 + O75695:p.Arg282Trp chrX 46495416 46495419 VAR_014536 + O75695:p.Asp338Tyr chr17 45787321 45787324 VAR_022453 + Q9H1B5:p.Arg305Thr chr17 45792453 45792456 VAR_022454 + Q9H1B5:p.Thr801Arg chr17 7138516 7138519 VAR_027916 - Q9Y2T7:p.Gly9Val chr17 7138354 7138357 VAR_027917 - Q9Y2T7:p.Ser63Pro chr4 113862805 113862808 VAR_037862 - Q6ZU11:p.Ile232Thr chr4 113839748 113839751 VAR_037863 - Q6ZU11:p.Ser390Leu chr4 113836941 113836944 VAR_037864 - Q6ZU11:p.Ser518Cys chr19 43492013 43492016 VAR_035385 - Q5BJH7:p.Pro56Ser chr6 43592508 43592511 VAR_026906 - Q9GZM5:p.Ala5Val chrX 67534754 67534757 VAR_026855 + Q96EC8:p.Phe202Leu chr14 22352432 22352435 VAR_039092 - Q9UM01:p.Thr5Ile chr14 22352339 22352342 VAR_039093 - Q9UM01:p.36del chr14 22352297 22352300 VAR_030595 - Q9UM01:p.Met50Lys chr14 22352288 22352291 VAR_039094 - Q9UM01:p.Ser53Leu chr14 22352285 22352288 VAR_010261 - Q9UM01:p.Gly54Val chr14 22352174 22352177 VAR_039095 - Q9UM01:p.Ala91Val chr14 22352075 22352078 VAR_039096 - Q9UM01:p.Leu124Pro chr14 22352027 22352030 VAR_039097 - Q9UM01:p.Ala140Pro chr14 22351991 22351994 VAR_039098 - Q9UM01:p.Phe152Leu chr14 22351970 22351973 VAR_039099 - Q9UM01:p.Arg159Cys chr14 22319035 22319038 VAR_030596 - Q9UM01:p.Thr188Ile chr14 22319026 22319029 VAR_039100 - Q9UM01:p.Lys191Glu chr14 22317897 22317900 VAR_030597 - Q9UM01:p.Ser238Phe chr14 22317858 22317861 VAR_039101 - Q9UM01:p.Glu251Asp chr14 22315354 22315357 VAR_039102 - Q9UM01:p.Leu261Pro chr14 22314585 22314588 VAR_010262 - Q9UM01:p.Leu334Arg chr14 22314573 22314576 VAR_010999 - Q9UM01:p.Gly338Asp chr14 22314492 22314495 VAR_039103 - Q9UM01:p.Asn365Tyr chr14 22313489 22313492 VAR_011000 - Q9UM01:p.Ser386Arg chr14 22313408 22313411 VAR_036609 - Q9UM01:p.Pro413Ser chr14 22312727 22312730 VAR_030599 - Q9UM01:p.Ser489Pro chr22 21194295 21194298 VAR_028218 - P59817:p.Lys71Asn chr22 21194100 21194103 VAR_028219 - P59817:p.Asn136Ser chr22 21194097 21194100 VAR_028220 - P59817:p.Tyr137Ser chr22 21193770 21193773 VAR_028221 - P59817:p.Asn246Ser chr22 21193761 21193764 VAR_028222 - P59817:p.Gly249Ala chr22 21193680 21193683 VAR_028223 - P59817:p.Leu276Phe chr22 21193674 21193677 VAR_028224 - P59817:p.Asn278Asp chr22 21193044 21193047 VAR_028226 - P59817:p.Arg488Ser chr22 21166711 21166714 VAR_028014 - Q86YH2:p.Val522Gly chr17 15552219 15552222 VAR_021892 + Q9HBT8:p.Tyr90His chr5 178438786 178438789 VAR_031138 + Q86Y25:p.Glu250Lys chr5 178439674 178439677 VAR_031139 + Q86Y25:p.Phe546Leu chr5 178439695 178439698 VAR_031140 + Q86Y25:p.Glu553Lys chr3 21437739 21437742 VAR_036058 - Q9H6B1:p.Ala386Thr chr3 21437736 21437739 VAR_036059 - Q9H6B1:p.His387Gln chr20 62066431 62066434 VAR_024226 - Q96KM6:p.Met372Val chr20 62065988 62065991 VAR_024227 - Q96KM6:p.Ala453Thr chr4 10123906 10123909 VAR_038491 - Q9C0D4:p.Ser105Pro chr4 10122652 10122655 VAR_038492 - Q9C0D4:p.Ser523Asn chr12 8220966 8220969 VAR_033595 + Q6ZN79:p.Lys142Gln chr2 185626598 185626601 VAR_035599 + Q7Z570:p.Asn324Ser chr2 97800192 97800195 VAR_041846 + P43403:p.Arg175Leu chr2 97807870 97807873 VAR_041847 + P43403:p.Pro191Leu chr2 97812505 97812508 VAR_041848 + P43403:p.Gly448Glu chr2 97812556 97812559 VAR_015538 + P43403:p.Arg465His chr2 97812806 97812809 VAR_006351 + P43403:p.Ser518Arg chr2 97812821 97812824 VAR_041849 + P43403:p.Trp523Leu chr2 97812875 97812878 VAR_038688 + P43403:p.Lys541Lys chr20 55624037 55624040 VAR_014316 - Q9H171:p.Glu88Lys chr3 102878316 102878319 VAR_021894 - O95625:p.Gly44Ser chr6 33391741 33391744 VAR_022702 - O15209:p.Thr310Ala chr19 40897887 40897890 VAR_030145 + Q9Y2Y4:p.Arg174Ser chr12 55682901 55682904 VAR_019985 - O15060:p.Pro689Ala chr1 193900279 193900282 VAR_030601 - Q5SVQ8:p.Asp327Tyr chr11 129636423 129636426 VAR_030336 - Q8NCP5:p.Lys185Glu chr20 61892521 61892524 VAR_030629 - Q86UZ6:p.Thr11Ala chr3 42676003 42676006 VAR_027715 + Q9UFB7:p.Ala9Thr chr11 62276590 62276593 VAR_035600 - Q9H5J0:p.His424Leu chr11 62276497 62276500 VAR_035601 - Q9H5J0:p.Ser455Phe chr11 62276140 62276143 VAR_018382 - Q9H5J0:p.Ile574Met chr17 7307374 7307377 VAR_018383 - Q9P1Z0:p.Met550Ile chr8 144692232 144692235 VAR_018458 - Q8IXZ2:p.Phe149Tyr chr8 144692226 144692229 VAR_018459 - Q8IXZ2:p.Glu151Asp chr8 144691482 144691485 VAR_018460 - Q8IXZ2:p.Ser399Gly chr7 138221486 138221489 VAR_018454 - Q7Z2W4:p.Arg485Lys chr7 138218288 138218291 VAR_018455 - Q7Z2W4:p.His565Gln chr1 52652863 52652866 VAR_028402 - Q5TAX3:p.Asp796Tyr chr16 86008668 86008671 VAR_036492 - Q8WYQ9:p.Leu290Val chr16 86003337 86003340 VAR_024703 - Q8WYQ9:p.Val693Met chrX 111504179 111504182 VAR_028917 + Q6ZR62:p.Leu27Pro chr16 87202855 87202858 VAR_037188 + Q86VM9:p.Ala368Thr chr4 25040168 25040171 VAR_024925 + Q9H5U6:p.Leu396His chr12 121483031 121483034 VAR_034585 - Q6NZY4:p.Pro672Ala chr5 80636374 80636377 VAR_028164 + Q8N567:p.Pro15Ala chr5 878278 878281 VAR_024704 - Q9H8X9:p.Arg341Gln chr5 872669 872672 VAR_021998 - Q9H8X9:p.Arg372His chr9 128564300 128564303 VAR_023833 - Q96GR4:p.Pro69Ser chr9 128563301 128563304 VAR_023834 - Q96GR4:p.Gln172Leu chr6 158044999 158045002 VAR_034586 + Q8IZN3:p.Thr334Met chr8 17112325 17112328 VAR_015229 + Q9UIJ5:p.Ser306Phe chr8 17119053 17119056 VAR_015230 + Q9UIJ5:p.Met356Ile chr7 6394516 6394519 VAR_023832 + Q9NPG8:p.Val53Met chr7 6395061 6395064 VAR_036260 + Q9NPG8:p.Pro104Ser chr16 83581593 83581596 VAR_036261 - Q9NXF8:p.Asp44Asn chr16 83569046 83569049 VAR_028360 - Q9NXF8:p.Val201Ile chr2 145021101 145021104 VAR_027016 - O60315:p.99del chr2 144989626 144989629 VAR_027017 - O60315:p.Arg953Gly chr2 144987828 144987831 VAR_035563 - O60315:p.Asp983Asn chr2 144981037 144981040 VAR_027018 - O60315:p.Gln1119Arg chr18 5281975 5281978 VAR_027810 - O43829:p.Glu77Gly chr18 5281789 5281792 VAR_027811 - O43829:p.Gln139Arg chr20 50236859 50236862 VAR_028019 - Q9NPA5:p.Gln68Pro chr20 50215840 50215843 VAR_028020 - Q9NPA5:p.Pro139Leu chr20 50202862 50202865 VAR_028021 - Q9NPA5:p.Phe425Tyr chr20 50202784 50202787 VAR_028022 - Q9NPA5:p.Ser451Asn chr16 71551329 71551332 VAR_026663 - Q15911:p.Ser72Ala chr16 71550261 71550264 VAR_026664 - Q15911:p.Thr428Pro chr16 71550165 71550168 VAR_019968 - Q15911:p.Glu460Gln chr16 71549214 71549217 VAR_026665 - Q15911:p.Val777Ala chr16 71379553 71379556 VAR_011694 - Q15911:p.Ala3374Val chr16 71379523 71379547 VAR_011695 - Q15911:p.3377_3384del chr16 71379412 71379415 VAR_026666 - Q15911:p.Pro3421Ala chr16 71379094 71379097 VAR_011696 - Q15911:p.Gly3527Gly chr19 61757823 61757826 VAR_024190 + Q8NHY6:p.Ala620Val chr5 178291256 178291259 VAR_032904 + Q6ZN57:p.Gln113His chr5 178291343 178291346 VAR_032905 + Q6ZN57:p.Arg142Gly chr11 58103438 58103441 VAR_032454 + Q96JP5:p.Val37Ile chr11 58134999 58135002 VAR_021889 + Q96JP5:p.Ser207Gly chr11 64611386 64611389 VAR_034472 + O95159:p.Arg218Gln chr10 99492886 99492889 VAR_027002 + Q5T4F4:p.Val82Ile chr10 99494618 99494621 VAR_027003 + Q5T4F4:p.Gly138Val chr10 99499239 99499242 VAR_027269 + Q5T4F4:p.Gly191Val chr16_random 78159 78162 VAR_034587 + O60844:p.Ser32Gly chr16_random 79015 79018 VAR_034588 + O60844:p.Thr162Ser chr20 61810556 61810559 VAR_025539 + Q8N5A5:p.Ser61Arg chr13 99432424 99432427 VAR_023793 + O95409:p.Gln36Pro chr13 99432772 99432775 VAR_023794 + O95409:p.Asp152Phe chr13 99433033 99433036 VAR_023795 + O95409:p.His239His chr13 99433033 99433036 VAR_023796 + O95409:p.239del chr13 99435745 99435748 VAR_008856 + O95409:p.Ala470Ala chrX 136375018 136375021 VAR_025632 + O60481:p.Pro217Ala chrX 136375126 136375129 VAR_025633 + O60481:p.Cys253Ser chrX 136375132 136375135 VAR_042416 + O60481:p.Trp255Gly chrX 136375225 136375228 VAR_025634 + O60481:p.His286Arg chrX 136375336 136375339 VAR_007753 + O60481:p.Thr323Met chrX 136376732 136376735 VAR_025635 + O60481:p.Lys405Glu chr19 62021846 62021849 VAR_021896 - Q9NZV7:p.Ala110Thr chr19 62341772 62341775 VAR_024222 - Q96PE6:p.Arg7Lys chr19 62341709 62341712 VAR_024223 - Q96PE6:p.Glu28Lys chr19 62340086 62340089 VAR_033599 - Q96PE6:p.Leu69Met chr19 62339045 62339048 VAR_024224 - Q96PE6:p.Asn157Asp chr19 62338379 62338382 VAR_024225 - Q96PE6:p.Ile379Val chr7 99265855 99265858 VAR_024839 + P17029:p.Val26Ala chr16 25170776 25170779 VAR_033597 - Q63HK3:p.Leu253Phe chr16 25162742 25162745 VAR_033598 - Q63HK3:p.Glu615Asp chr8 40557911 40557914 VAR_034736 - Q9H898:p.Thr201Ala chr10 80728327 80728330 VAR_036326 + Q9ULJ6:p.Leu551Val chr3 50354034 50354037 VAR_014227 - O75800:p.Arg407Gln chr1 35232057 35232060 VAR_034589 + Q5SVZ6:p.Val73Met chr1 35516124 35516127 VAR_034764 + Q5VZL5:p.Val452Ile chr1 35550326 35550329 VAR_035672 + Q5VZL5:p.Arg1410Trp chr13 19323945 19323948 VAR_025508 - Q9UJ78:p.Ile125Val chr13 19323909 19323912 VAR_025509 - Q9UJ78:p.Cys137Phe chr19 19651158 19651161 VAR_024197 + Q8IZC7:p.Met121Leu chr20 18244071 18244074 VAR_028228 + P52736:p.Ser193Thr chr20 18244074 18244077 VAR_028229 + P52736:p.Gly194Glu chr19 12158511 12158514 VAR_033555 + P52737:p.Tyr107Cys chr19 57792187 57792190 VAR_033556 + P52743:p.Arg112Gln chr19 57792394 57792397 VAR_012025 + P52743:p.Gln181His chr4 356595 356598 VAR_019973 + Q15928:p.Lys124Glu chr4 357270 357273 VAR_012026 + Q15928:p.Arg349Lys chr4 357297 357300 VAR_012027 + Q15928:p.Lys358Asn chr19 9351758 9351761 VAR_031692 + Q13360:p.Asp94Gly chr19 9351812 9351815 VAR_031693 + Q13360:p.Thr112Met chr19 49693184 49693187 VAR_030864 - Q9UJW8:p.Ala41Val chr19 49675406 49675409 VAR_030865 - Q9UJW8:p.Trp89Cys chr19 49673721 49673724 VAR_030866 - Q9UJW8:p.Cys272Ser chr9 101250265 101250268 VAR_025403 + O75820:p.Arg221Lys chr6 28225308 28225311 VAR_009877 + Q15776:p.Pro163Leu chr11 123105683 123105686 VAR_007818 - O95125:p.Val154Ala chr11 123102262 123102265 VAR_023975 - O95125:p.Gly533Ala chr16 3105425 3105428 VAR_028798 + O95201:p.Thr43Ala chr16 3109424 3109427 VAR_028799 + O95201:p.Ala255Asp chr17 27716508 27716511 VAR_019974 + O43670:p.Ala224Ser chr11 6979105 6979108 VAR_019975 - Q9UL59:p.Leu128His chr11 6978934 6978937 VAR_019976 - Q9UL59:p.Ile185Arg chr11 6910433 6910436 VAR_024200 + Q9UL58:p.Met119Val chr11 6933909 6933912 VAR_021890 + Q9UL58:p.Met376Val chr20 51631803 51631806 VAR_035572 - O75362:p.Asp323Asn chr19 49161986 49161989 VAR_033557 + Q9UK13:p.Val165Met chr19 49302636 49302639 VAR_024204 + Q9NZL3:p.His162Leu chr19 49304070 49304073 VAR_021891 + Q9NZL3:p.Lys640Glu chr19 49314479 49314482 VAR_033560 + Q9UK10:p.Gln50Arg chr19 49328641 49328644 VAR_033561 + Q9UK10:p.Thr679Ser chr17 4953460 4953463 VAR_035573 - Q9UNY5:p.Ala123Val chr19 49344793 49344796 VAR_019977 + Q14588:p.Val16Ile chr19 49484539 49484542 VAR_029806 - Q14590:p.His292Pro chr1 240543537 240543540 VAR_012768 + Q99592:p.Glu132Gly chr10 43372735 43372738 VAR_025536 - Q16600:p.Asp266Glu chr19 9385043 9385046 VAR_014828 - Q14584:p.Pro519Leu chr7 111573875 111573878 VAR_035574 + Q9NRM2:p.Ile320Leu chr7 111576714 111576717 VAR_035575 + Q9NRM2:p.Leu433Phe chr19 49283106 49283109 VAR_031135 + Q2VY69:p.Lys546Glu chr17 16397337 16397340 VAR_024207 - Q9HBT7:p.Lys274Thr chr5 150255985 150255988 VAR_012355 - Q96RE9:p.Gln336His chr19 62559409 62559412 VAR_019979 + Q9HCX3:p.Leu121Pro chr19 9128316 9128319 VAR_019980 + Q96PQ6:p.Gln19His chr6 43430613 43430616 VAR_036056 - Q5VUA4:p.Asn812Ser chr6 43415891 43415894 VAR_036057 - Q5VUA4:p.Gly1274Arg chr6 28405289 28405292 VAR_019981 - Q96LW9:p.Thr50Ser chr6 28402527 28402530 VAR_024209 - Q96LW9:p.Lys205Arg chr19 63332136 63332139 VAR_035403 - Q86UD4:p.Asn182Asp chr19 14688828 14688831 VAR_024210 + Q96JL9:p.Ala251Glu chr20 44029612 44029615 VAR_024211 - Q9H4Z2:p.Ser294Thr chr20 25614734 25614737 VAR_024213 - Q9Y3M9:p.Val17Ile chr10 42409968 42409971 VAR_024192 - Q06732:p.Arg145Cys chr5 71775356 71775359 VAR_033564 - Q8N895:p.Ala739Gly chr6 27476278 27476281 VAR_034774 + Q9UJN7:p.Lys51Arg chr6 27476302 27476305 VAR_034775 + Q9UJN7:p.Gly59Cys chr8 135738989 135738992 VAR_024840 - Q9P243:p.Gly64Arg chr19 8484033 8484036 VAR_026847 - Q96IQ9:p.Gln65Arg chr19 8483997 8484000 VAR_026848 - Q96IQ9:p.Pro77Ser chr19 58304665 58304668 VAR_032166 - Q09FC8:p.His196Pro chr19 58304566 58304569 VAR_032167 - Q09FC8:p.Ile229Leu chr19 58304554 58304557 VAR_032168 - Q09FC8:p.Ile233Val chr19 58304530 58304533 VAR_032169 - Q09FC8:p.Tyr241Cys chr19 58303864 58303867 VAR_032170 - Q09FC8:p.Asn463Asp chr7 148240112 148240115 VAR_033565 - Q6IV72:p.Asp166Val chr19 9507896 9507899 VAR_024214 - Q9BUY5:p.Ala4Val chr19 57229495 57229498 VAR_035577 - O94892:p.Leu416Val chr19 57229273 57229276 VAR_035578 - O94892:p.Cys490Tyr chr1 23434592 23434595 VAR_035579 - Q9C0F3:p.Cys196Gly chr10 31178820 31178823 VAR_027013 - Q7Z4V0:p.Pro173Ser chr10 31178196 31178199 VAR_035580 - Q7Z4V0:p.Lys381Asn chr19 12323068 12323071 VAR_024217 - Q9H7R0:p.Pro110Thr chr19 12322942 12322945 VAR_035581 - Q9H7R0:p.Pro152Ser chr19 12322669 12322672 VAR_035582 - Q9H7R0:p.Cys243Ser chr19 12322069 12322072 VAR_024218 - Q9H7R0:p.Arg443Cys chr19 63681306 63681309 VAR_033566 + Q9NWS9:p.Asn192His chr19 63683449 63683452 VAR_033567 + Q9NWS9:p.Pro300Ser chr6 28655130 28655133 VAR_027012 - Q6R2W3:p.Met155Val chr5 178324506 178324509 VAR_033568 + Q8N9F8:p.Asp166Ala chr19 58036236 58036239 VAR_031141 - Q5VIY5:p.His374Arg chr19 58035927 58035930 VAR_031142 - Q5VIY5:p.Gly477Arg chr19 61777580 61777583 VAR_031143 + Q6ECI4:p.Val23Leu chr19 61780368 61780371 VAR_031144 + Q6ECI4:p.Lys254Arg chr5 121516100 121516103 VAR_031146 + Q6S9Z5:p.Arg173His chr19 57516843 57516846 VAR_033569 + Q8WV37:p.Pro158Ser chr19 57517395 57517398 VAR_035584 + Q8WV37:p.His342Gln chr9 92689117 92689120 VAR_033570 - Q5JVG2:p.Gly502Asp chr10 47990751 47990754 VAR_033571 + Q96MN9:p.Ala72Val chr10 47990853 47990856 VAR_033572 + Q96MN9:p.Pro106Leu chr10 47991282 47991285 VAR_033573 + Q96MN9:p.Pro249Ser chr3 44750965 44750968 VAR_024219 + Q96CX3:p.Met17Val chr10 76828926 76828929 VAR_032951 - Q96F45:p.Asn509Lys chr9 96616624 96616627 VAR_019982 - Q9Y2H8:p.Gln43Arg chr9 96605039 96605042 VAR_021893 - Q9Y2H8:p.Cys89Arg chr19 47420674 47420677 VAR_035331 + Q8TF50:p.Val94Ala chr19 47421925 47421928 VAR_035332 + Q8TF50:p.Ser511Phe chr19 42783770 42783773 VAR_033575 + Q8NDQ6:p.Asp53Val chr19 42794843 42794846 VAR_035586 + Q8NDQ6:p.Lys275Ile chr19 52739461 52739464 VAR_035717 - Q9H0D2:p.Ser158Leu chr19 2804605 2804608 VAR_026295 + Q8NEP9:p.Lys515Thr chr19 2828364 2828367 VAR_030355 + Q9HAH1:p.Arg137Cys chr19 9313877 9313880 VAR_033576 + Q9BR84:p.Thr251Asn chr19 9440834 9440837 VAR_035588 - Q96MR9:p.Gly186Glu chr19 41366143 41366146 VAR_023938 - Q8N9K5:p.Ile188Thr chr19 42609048 42609051 VAR_035589 - Q5MCW4:p.Gln29Glu chr19 42597138 42597141 VAR_035590 - Q5MCW4:p.Glu87Gly chr19 42748602 42748605 VAR_023953 - Q7Z3V5:p.Gln189His chr19 42748413 42748416 VAR_023954 - Q7Z3V5:p.Glu252Asp chr19 42747450 42747453 VAR_023955 - Q7Z3V5:p.Leu573His chr19 42747390 42747393 VAR_031093 - Q7Z3V5:p.Lys593Glu chr8 126058639 126058642 VAR_027664 + Q7Z3I7:p.Lys317Thr chr8 126058828 126058831 VAR_027665 + Q7Z3I7:p.Gly380Glu chr8 126059032 126059035 VAR_027666 + Q7Z3I7:p.Ser448Cys chr8 126059188 126059191 VAR_027667 + Q7Z3I7:p.Val500Ile chr8 126059224 126059227 VAR_035591 + Q7Z3I7:p.Cys512Phe chr19 42922726 42922729 VAR_030356 - Q86YE8:p.Gly166Ala chr19 48794977 48794980 VAR_023956 + Q9H609:p.Pro81Leu chr19 57067983 57067986 VAR_033577 - Q9BSK1:p.Arg350Ser chr19 61593206 61593209 VAR_033578 - Q96NG8:p.Arg69Thr chr19 61626808 61626811 VAR_027978 + Q96ND8:p.Phe324Ile chr19 63620120 63620123 VAR_033579 + Q8IVC4:p.Pro142Ser chr19 63620597 63620600 VAR_033580 + Q8IVC4:p.Thr301Ala chr3 48284830 48284833 VAR_035290 + Q86UQ0:p.Thr216Arg chr17 5027762 5027765 VAR_035333 - Q96JF6:p.Ile171Thr chr17 5027678 5027681 VAR_035334 - Q96JF6:p.Val199Gly chr16 3430877 3430880 VAR_033581 - Q96LX8:p.Thr30Ser chr2 71488066 71488069 VAR_023069 + Q14966:p.Ile110Val chr2 71542762 71542765 VAR_023070 + Q14966:p.Asn980Ser chr2 71565829 71565832 VAR_023071 + Q14966:p.Val1726Met chr2 71570194 71570197 VAR_023072 + Q14966:p.Ala1912Val chr12 47023646 47023649 VAR_032009 - Q96N77:p.Ser231Cys chr12 47023250 47023253 VAR_032010 - Q96N77:p.Gln363Pro chr1 40623969 40623972 VAR_033583 + Q49AA0:p.Val113Leu chr1 40592110 40592113 VAR_033584 + Q9UJL9:p.Cys13Tyr chr1 91118772 91118775 VAR_035593 - Q9H582:p.Glu53Gln chrX 22051260 22051263 VAR_030340 + Q8N7E2:p.Asp166Glu chrX 22051623 22051626 VAR_030341 + Q8N7E2:p.Ser287Phe chr1 178758469 178758472 VAR_033585 - Q5T619:p.Asn111Lys chr19 57086144 57086147 VAR_027668 - Q9BS31:p.Gly352Asp chr19 57085793 57085796 VAR_027669 - Q9BS31:p.Ala469Thr chr19 11477439 11477442 VAR_028076 - Q96CK0:p.Lys54Arg chr19 61645395 61645398 VAR_027716 - Q5HYK9:p.Lys260Arg chr19 61644555 61644558 VAR_027717 - Q5HYK9:p.Thr540Ala chr16 30983083 30983086 VAR_035595 - Q96K58:p.Ala66Thr chr16 30980891 30980894 VAR_035596 - Q96K58:p.Gly286Ser chr16 30980837 30980840 VAR_027690 - Q96K58:p.Gly304Glu chr16 30980756 30980759 VAR_035597 - Q96K58:p.Thr331Arg chr16 30980408 30980411 VAR_027691 - Q96K58:p.Ala447Val chr16 30980081 30980084 VAR_035598 - Q96K58:p.Arg556Gln chrX 46116248 46116251 VAR_026152 - Q2M3X9:p.Thr343Met chrX 46116041 46116044 VAR_026153 - Q2M3X9:p.Pro412Leu chr1 224149115 224149118 VAR_026154 + Q5SXM1:p.Lys144Glu chr7 63165399 63165402 VAR_033586 + Q8IYX0:p.Glu69Gly chr7 63170518 63170521 VAR_033587 + Q8IYX0:p.His120Arg chr7 63170794 63170797 VAR_033588 + Q8IYX0:p.Tyr212His chr7 63170827 63170830 VAR_033589 + Q8IYX0:p.Cys223Ser chr7 63426885 63426888 VAR_027892 - Q8NEM1:p.Ser132Phe chr7 63426291 63426294 VAR_027893 - Q8NEM1:p.Asp330Gly chr7 63425706 63425709 VAR_027894 - Q8NEM1:p.Asn525Asp chr1 26375566 26375569 VAR_026155 - Q8IZ20:p.His189Asn chr19 11920799 11920802 VAR_033591 + Q9H0M5:p.Leu321Val chr19 57778486 57778489 VAR_033594 + Q9NV72:p.Arg455Cys chr8 81896279 81896282 VAR_032506 - Q6ZNC4:p.Ala35Ser chr19 62647054 62647057 VAR_030278 + O43361:p.Gln156Arg chr19 62647540 62647543 VAR_030279 + O43361:p.Ala318Thr chr19 62648638 62648641 VAR_030280 + O43361:p.Ile684Arg chr17 78382914 78382917 VAR_027062 - Q32MQ0:p.Met235Val chr16 3307228 3307231 VAR_033545 + Q96N20:p.Val84Ala chr16 3307660 3307663 VAR_035570 + Q96N20:p.Gln228Glu chr19 62677377 62677380 VAR_029604 - Q68DY9:p.Cys182Trp chr19 62677269 62677272 VAR_029605 - Q68DY9:p.Met218Leu chr15 88703174 88703177 VAR_029596 + Q6NX45:p.Pro65Leu chr15 88704505 88704508 VAR_029598 + Q6NX45:p.Val147Ile chr9 96661469 96661472 VAR_029578 - Q6ZMW2:p.Arg130Pro chr9 96661364 96661367 VAR_029579 - Q6ZMW2:p.Arg165His chr19 61291212 61291215 VAR_032336 - Q6DD87:p.Gly379Ala chr19 42716108 42716111 VAR_033107 + Q6ZN11:p.Ile68Met chr19 57751045 57751048 VAR_035143 + Q8N4W9:p.Val61Gly chr8 146128661 146128664 VAR_024193 - P17020:p.Glu105Lys chr8 146128295 146128298 VAR_024194 - P17020:p.Arg227His chr17 11834539 11834542 VAR_024835 - P17022:p.Gln210Arg chr17 11828185 11828188 VAR_024836 - P17022:p.Met240Ile chr10 44819206 44819209 VAR_035566 + P17026:p.His129Leu chr16 70044704 70044707 VAR_024195 - P17027:p.Ser28Gly chr10 38286432 38286435 VAR_035567 - P17030:p.Glu21Lys chr10 38282687 38282690 VAR_035568 - P17030:p.Asp81Gly chrX 47065089 47065092 VAR_021785 - P51814:p.Pro153Leu chrX 47065047 47065050 VAR_021786 - P51814:p.Ile167Arg chrX 47064477 47064480 VAR_021787 - P51814:p.Asp357Glu chr19 21783946 21783949 VAR_035569 - P17038:p.Arg238Cys chr19 49110866 49110869 VAR_012019 - Q02386:p.Ala187Thr chr19 49110662 49110665 VAR_012020 - Q02386:p.Arg255Lys chr19 49110530 49110533 VAR_012021 - Q02386:p.Thr299Ala chr19 49110518 49110521 VAR_012022 - Q02386:p.Pro303Arg chr19 49109915 49109918 VAR_012023 - Q02386:p.Arg504Lys chr19 61824779 61824782 VAR_024196 + Q9NQZ8:p.Val105Ile chr6 35361950 35361953 VAR_033546 + P36508:p.Thr48Met chr6 35367374 35367377 VAR_033547 + P36508:p.Arg272Cys chr6 35368676 35368679 VAR_033548 + P36508:p.Arg403Gln chr19 2890348 2890351 VAR_033549 - Q15935:p.Leu20Trp chr19 2885587 2885590 VAR_033550 - Q15935:p.Pro179Ser chr19 2884744 2884747 VAR_033551 - Q15935:p.Gly460Arg chr9 127270738 127270741 VAR_024841 + Q15937:p.Thr31Ile chr9 127276967 127276970 VAR_024842 + Q15937:p.Arg51Gly chr8 146037857 146037860 VAR_024191 + P17097:p.Gly188Arg chr19 20909641 20909644 VAR_033552 + Q03923:p.Lys60Thr chr19 20923709 20923712 VAR_033553 + Q03923:p.Gly184Arg chr19 20923967 20923970 VAR_033554 + Q03923:p.Phe270Ser chr7 64308650 64308653 VAR_024843 + Q03936:p.Gln492Arg chr20 47307432 47307435 VAR_014078 - Q9P2E3:p.Leu864Val chr20 47305825 47305828 VAR_014079 - Q9P2E3:p.Thr910Ala chr20 47305783 47305786 VAR_014080 - Q9P2E3:p.Gln924His chr20 47299190 47299193 VAR_024487 - Q9P2E3:p.Met1259Ile chr20 47298914 47298917 VAR_014081 - Q9P2E3:p.Thr1351Ile chr7 100460514 100460517 VAR_035719 + O43257:p.Arg134Trp chr11 64641524 64641527 VAR_035720 - Q9UHR6:p.Ala59Pro chr8 118253963 118253966 VAR_031258 + Q8IWU4:p.Arg325Gln chr8 118253963 118253966 VAR_031259 + Q8IWU4:p.Arg325Trp chr15 27813872 27813875 VAR_025153 - Q07157:p.Asn471Ser chr15 27805916 27805919 VAR_025154 - Q07157:p.Ile790Val chr15 27799485 27799488 VAR_025155 - Q07157:p.Pro930Leu chr15 27798307 27798310 VAR_025156 - Q07157:p.His1110Arg chr15 27796267 27796270 VAR_025157 - Q07157:p.Asp1347Ala chr15 27788089 27788092 VAR_025158 - Q07157:p.Asn1605Ser chr16 21130171 21130174 VAR_024705 - Q05996:p.Gly36Val chr14 93826545 93826548 VAR_020325 - Q9UK55:p.Lys46Arg chr14 93826500 93826503 VAR_020326 - Q9UK55:p.Ser61Gly chr14 93826266 93826269 VAR_038833 - Q9UK55:p.Gly139Arg chr14 93826200 93826203 VAR_020327 - Q9UK55:p.Thr161Ser chr14 93824554 93824557 VAR_038834 - Q9UK55:p.Gly271Ser chr14 93820237 93820240 VAR_038835 - Q9UK55:p.Gln384Pro chr2 135822145 135822148 VAR_030671 - Q5FWF4:p.Glu541Lys chr2 135822130 135822133 VAR_030672 - Q5FWF4:p.Arg546Gln chr6 28202560 28202563 VAR_035604 + Q9H4T2:p.Arg137Gln chr19 63288259 63288262 VAR_026871 - Q8TBC5:p.Gly379Glu chr19 61426961 61426964 VAR_035603 - Q9BUG6:p.Glu146Gln chr19 61425235 61425238 VAR_042964 - Q9BUG6:p.Gly337Val chr20 43944938 43944941 VAR_020445 + Q9BR11:p.Arg101Gln chr6 117079872 117079875 VAR_026889 - Q96AP4:p.Asn379Asp chr15 64608303 64608306 VAR_038055 + Q9H900:p.Ser344Gly chr10 57790991 57790994 VAR_028783 - O95229:p.Ala4Ser chrX 57818747 57818750 VAR_033002 - P98168:p.Gly376Ser chrX 57503707 57503710 VAR_033003 + P98169:p.Ala736Thr chrX 57503779 57503782 VAR_033004 + P98169:p.Asn760Ser chrX 57503791 57503794 VAR_033005 + P98169:p.Asp764Asn chrX 57503872 57503875 VAR_033006 + P98169:p.Thr791Arg chr7 142596895 142596898 VAR_034081 + Q15942:p.His223Leu chr17 3992848 3992851 VAR_032551 - O43149:p.Val30Ala chr17 3926958 3926961 VAR_032552 - O43149:p.Ile1021Val chr17 3914810 3914813 VAR_032553 - O43149:p.Ser1437Ala chr17 3894279 3894282 VAR_032556 - O43149:p.Pro2051Ser chr17 3875150 3875153 VAR_032557 - O43149:p.Tyr2301His chr17 3875144 3875147 VAR_032558 - O43149:p.Leu2303Pro chr17 3871312 3871315 VAR_032560 - O43149:p.Ala2421Thr chr1 77809692 77809695 VAR_035718 - Q8IYH5:p.Pro456Ser