ORegAnno http://www.oreganno.org/oregano/recordview.action?recid=%s ORegAnno yes PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&query_hl=1&list_uids=%s PubMED yes HbVar http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&id=%s HbVar yes GenPhen http://globin.bx.psu.edu/cgi-bin/genphen/test_gpquery?display_format=page&mode=Submit+Query&alleleId=%s GenPhen yes dbSNP http://www.ncbi.nih.gov/SNP/snp_ref.cgi?type=rs&rs=%s dbSNP yes MPlink http://www.informatics.jax.org/searches/Phat.cgi?id=%s Mammalian Phenotype (MP) yes EntrezGene http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=full_report&list_uids=%s Entrez Gene yes EnsemblGene http://www.ensembl.org/%s/geneview?gene=%s Ensembl GeneView yes EnsemblHumanGene http://www.ensembl.org/Homo_sapiens/geneview?gene=%s Ensembl Human GeneView yes HGMD http://www.hgmd.cf.ac.uk/ac/gene.php?gene=%s HGMD yes PubMed2 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=%s PubMed yes FHCDB http://www.angis.org.au/pbin/Databases/Heart/fhcquery.cgi?choice=mnum;submit=Search;mut_id=%s FHCDB yes LQTSdb http://www.ssi.dk/graphics/html/lqtsdb/%s.htm LQTSdb yes CA2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CA2;view=full;mut=%s CA2base yes yes CLCN7base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CLCN7;view=full;mut=%s CLCN7base yes yes OSTM1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=OSTM1;view=full;mut=%s OSTM1base yes yes BTKbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=BTK;view=full;mut=%s BTKbase yes yes ADAbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=ADA;view=full;mut=%s ADAbase yes yes AICDAbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=AICDA;view=full;mut=%s AICDAbase yes yes AIREbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=AIRE;view=full;mut=%s AIREbase yes yes AP3B1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=AP3B1;view=full;mut=%s AP3B1base yes yes C1QAbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C1QA;view=full;mut=%s C1QAbase yes yes C1QBbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C1QB;view=full;mut=%s C1QBbase yes yes C1QGbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C1QG;view=full;mut=%s C1QGbase yes yes C1Sbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C1S;view=full;mut=%s C1Sbase yes yes C2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C2;view=full;mut=%s C2base yes yes C3base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C3;view=full;mut=%s C3base yes yes C5base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C5;view=full;mut=%s C5base yes yes C6base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C6;view=full;mut=%s C6base yes yes C7base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C7;view=full;mut=%s C7base yes yes C8Bbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C8B;view=full;mut=%s C8Bbase yes yes C9base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C9;view=full;mut=%s C9base yes yes CASP10base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CASP10;view=full;mut=%s CASP10base yes yes CASP8base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CASP8;view=full;mut=%s CASP8base yes yes CD19base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD19;view=full;mut=%s CD19base yes yes CD247base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD247;view=full;mut=%s CD247base yes yes CD3Dbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD3D;view=full;mut=%s CD3Dbase yes yes CD40base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD40;view=full;mut=%s CD40base yes yes CD55base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD55;view=full;mut=%s CD55base yes yes CD8Abase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD8A;view=full;mut=%s CD8Abase yes yes CEBPEbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CEBPE;view=full;mut=%s CEBPEbase yes yes CFDbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CFD;view=full;mut=%s CFDbase yes yes CFHbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CFH;view=full;mut=%s CFHbase yes yes CFIbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CFI;view=full;mut=%s CFIbase yes yes CIITAbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CIITA;view=full;mut=%s CIITAbase yes yes CTSCbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CTSC;view=full;mut=%s CTSCbase yes yes CXCR4base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CXCR4;view=full;mut=%s CXCR4base yes yes CYBAbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CYBA;view=full;mut=%s CYBAbase yes yes CYBBbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CYBB;view=full;mut=%s CYBBbase yes yes DCLRE1Cbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=DCLRE1C;view=full;mut=%s DCLRE1Cbase yes yes DKC1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=DKC1;view=full;mut=%s DKC1base yes yes DNMT3Bbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=DNMT3B;view=full;mut=%s DNMT3Bbase yes yes ELA2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=ELA2;view=full;mut=%s ELA2base yes yes FASLGbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=FASLG;view=full;mut=%s FASLGbase yes yes FCGR1Abase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=FCGR1A;view=full;mut=%s FCGR1Abase yes yes FCGR3Abase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=FCGR3A;view=full;mut=%s FCGR3Abase yes yes FOXN1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=FOXN1;view=full;mut=%s FOXN1base yes yes FOXP3base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=FOXP3;view=full;mut=%s FOXP3base yes yes GFI1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=GFI1;view=full;mut=%s GFI1base yes yes IFNGR1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IFNGR1;view=full;mut=%s IFNGR1base yes yes IFNGR2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IFNGR2;view=full;mut=%s IFNGR2base yes yes IGHG2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IGHG2;view=full;mut=%s IGHG2base yes yes IGHMbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IGHM;view=full;mut=%s IGHMbase yes yes IGLL1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IGLL1;view=full;mut=%s IGLL1base yes yes IL12Bbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IL12B;view=full;mut=%s IL12Bbase yes yes IL12RB1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IL12RB1;view=full;mut=%s IL12RB1base yes yes IL2RAbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IL2RA;view=full;mut=%s IL2RAbase yes yes IL7Rbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IL7R;view=full;mut=%s IL7Rbase yes yes IRAK4base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IRAK4;view=full;mut=%s IRAK4base yes yes ITGB2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=ITGB2;view=full;mut=%s ITGB2base yes yes JAK3base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=JAK3;view=full;mut=%s JAK3base yes yes LIG1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=LIG1;view=full;mut=%s LIG1base yes yes LIG4base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=LIG4;view=full;mut=%s LIG4base yes yes LYSTbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=LYST;view=full;mut=%s LYSTbase yes yes MASP2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=MASP2;view=full;mut=%s MASP2base yes yes MLPHbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=MLPH;view=full;mut=%s MLPHbase yes yes MPObase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=MPO;view=full;mut=%s MPObase yes yes MRE11Abase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=MRE11A;view=full;mut=%s MRE11Abase yes yes MYO5Abase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=MYO5A;view=full;mut=%s MYO5Abase yes yes NCF1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=NCF1;view=full;mut=%s NCF1base yes yes NHEJ1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=NHEJ1;view=full;mut=%s NHEJ1base yes yes NPbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=NP;view=full;mut=%s NPbase yes yes PFCbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=PFC;view=full;mut=%s PFCbase yes yes PRF1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=PRF1;view=full;mut=%s PRF1base yes yes PTPRCbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=PTPRC;view=full;mut=%s PTPRCbase yes yes RAB27Abase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=RAB27A;view=full;mut=%s RAB27Abase yes yes RAC2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=RAC2;view=full;mut=%s RAC2base yes yes RAG1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=RAG1;view=full;mut=%s RAG1base yes yes RAG2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=RAG2;view=full;mut=%s RAG2base yes yes RFX5base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=RFX5;view=full;mut=%s RFX5base yes yes RFXANKbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=RFXANK;view=full;mut=%s RFXANKbase yes yes RFXAPbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=RFXAP;view=full;mut=%s RFXAPbase yes yes SBDSbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=SBDS;view=full;mut=%s SBDSbase yes yes SERPING1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=SERPING1;view=full;mut=%s SERPING1base yes yes SLC35C1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=SLC35C1;view=full;mut=%s SLC35C1base yes yes SMARCAL1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=SMARCAL1;view=full;mut=%s SMARCAL1base yes yes SP110base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=SP110;view=full;mut=%s SP110base yes yes SPINK5base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=SPINK5;view=full;mut=%s SPINK5base yes yes STAT1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=STAT1;view=full;mut=%s STAT1base yes yes STAT5Bbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=STAT5B;view=full;mut=%s STAT5Bbase yes yes STX11base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=STX11;view=full;mut=%s STX11base yes yes TAP1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=TAP1;view=full;mut=%s TAP1base yes yes TAP2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=TAP2;view=full;mut=%s TAP2base yes yes TAZbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=TAZ;view=full;mut=%s TAZbase yes yes TCN2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=TCN2;view=full;mut=%s TCN2base yes yes TMC6base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=TMC6;view=full;mut=%s TMC6base yes yes TMC8base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=TMC8;view=full;mut=%s TMC8base yes yes UNC13Dbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=UNC13D;view=full;mut=%s UNC13Dbase yes yes TNFRSF13Bbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=TNFRSF13B;view=full;mut=%s TNFRSF13Bbase yes yes WASbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=WAS;view=full;mut=%s WASbase yes yes ZAP70base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=ZAP70;view=full;mut=%s ZAP70base yes yes F12base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=F12;view=full;mut=%s F12base yes yes CD40Lbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD40L;view=full;mut=%s CD40Lbase yes yes CD59base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD59;view=full;mut=%s CD59base yes yes IKBKGbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=IKBKG;view=full;mut=%s IKBKGbase yes yes NFKBIAbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=NFKBIA;view=full;mut=%s NFKBIAbase yes yes SH2D1Abase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=SH2D1A;view=full;mut=%s SH2D1Abase yes yes TCIRG1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=TCIRG1;view=full;mut=%s TCIRG1base yes yes UNGbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=UNG;view=full;mut=%s UNGbase yes yes HAX1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=HAX1;view=full;mut=%s HAX1base yes yes CD3Ebase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD3E;view=full;mut=%s CD3Ebase yes yes CD3Gbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD3G;view=full;mut=%s CD3Gbase yes yes NCF2base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=NCF2;view=full;mut=%s NCF2base yes yes RettBASE http://mecp2.chw.edu.au/cgi-bin/mecp2/search/process-search.cgi?display=simple&submit=Display&sys_name=%s RettBASE yes yes RettBASEprot http://mecp2.chw.edu.au/cgi-bin/mecp2/search/process-search.cgi?display=simple&submit=Display&prot_sys_name=%s RettBASE yes yes Omicia http://www.omicia.com:9080/omiminfo?omim_allele=%s Omicia yes VWF http://www.ragtimedesign.com/vwf/mutation/mutationresults.php?searchtype=nucleotide&searchnuc=%s&submit=Search ISTH SSC VWF yes yes CD79Bbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CD79B;view=full;mut=%s CD79Bbase yes yes BLMbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=BLM;view=full;mut=%s BLMbase yes yes UNC93B1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=UNC93B1;view=full;mut=%s UNC93B1base yes yes NRASbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=NRAS;view=full;mut=%s NRASbase yes yes HIFD http://www.interfil.org/searchKeywords.php?mutation_columns=yes&task=search&submit=Search%s HIFD yes ADM http://www.molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=%s AD&FTD Mutation Database yes LOVD http://www.dmd.nl/nmdb/variants.php?select_db=%s LOVD yes BIRC4base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=BIRC4;view=full;mut=%s BIRC4base yes yes C1QCbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=C1QC;view=full;mut=%s C1QCbase yes yes CFPbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=CFP;view=full;mut=%s CFPbase yes yes STAT3base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=STAT3;view=full;mut=%s STAT3base yes yes TLR3base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=TLR3;view=full;mut=%s TLR3base yes yes PAHdb http://www.pahdb.mcgill.ca/PahdbSearch.php?SearchValue=%s&SearchField=mut_name&SearchOrderedField=id_mut&SearchAscDesc=ASC&Submit=Submit&MenuSelection=Mutation PAHdb yes yes CBS http://cbs.lf1.cuni.cz/search_res.php?what=search&submit=Submit&search=%s CBS yes yes Fanconi http://chromium.liacs.nl/LOVD2/FANC/variants.php?select_db=%s Fanconi yes ALPL http://www.sesep.uvsq.fr/database_hypo/Mutation.html#%s ALPL yes ARdb http://androgendb.mcgill.ca/AR23C.pdf ARdb CASRdb http://www.casrdb.mcgill.ca/?Topic=MutationSearch CASRdb IPNMDB http://www.molgen.ua.ac.be/CMTMutations/Mutations/MutByGene.cfm IPN Mutations Reichardt http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=10898110 Reference UniProtSearch http://www.uniprot.org/uniprot/?sort=score&query=%s UniProt search yes dbPEX http://www.dbpex.org/variants.php?select_db=%s dbPEX yes CFMDB http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=%s CFMDB yes GlobinLOVD http://lovd.bx.psu.edu/variants.php?select_db=%s Globin Gene Server yes ORAI1base http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=ORAI1;view=full;mut=%s ORAI1base yes yes ICOSbase http://bioinf.uta.fi/cgi-bin/fetch_idbase.cgi?gene=ICOS;view=full;mut=%s ICOSbase yes yes dbRIP http://dbrip.org/cgi-bin/link2dbripByID.cgi?genome=hg19&dbripid=%s dbRIP yes BGMUT http://www.ncbi.nlm.nih.gov/projects/gv/mhc/xslcgi.cgi?cmd=bgmut/allele_details&id=%s BGMUT yes RISN http://www.retina-international.org/files/sci-news/disloci.htm Disease database no OMIM http://omim.org/entry/%s OMIM yes X-ALD http://www.x-ald.nl/mutations-gene/mutations-in-abcd1/ X-ALD RPGR http://rpgr.hgu.mrc.ac.uk/search.php?select_db=RPGR&srch=srch RPGR no MMR http://www.med.mun.ca/MMRvariants/search.aspx Search page no UniProtVar http://web.expasy.org/cgi-bin/variant_pages/get-sprot-variant.pl?%s UniProt variant yes IARC TP53 http://www-p53.iarc.fr/TP53GeneVariations.aspx IARC TP53 search page no yes KinMutBase http://bioinf.uta.fi/KinMutBase/index.html KinMutBase home no