Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.93997920_94002690delCA10576058ABCA4c.6148-698_6670del
c.2524-698_3046del
 ClinVar
1g.93997920_94002690delinsCTAGGGAGGTGCACACA645372243ABCA4c.6148-698_6670delinsTGTGCACCTCCCTAG
c.2524-698_3046delinsTGTGCACCTCCCTAG
1g.94000979C=CA1181397629ABCA4c.6386+23G= (n.6386+23G=)
c.2762+23G= (n.2762+23G=)
1g.94000979C>GCA2646644980ABCA4c.6386+23G>C (n.6386+23G>C)
c.2762+23G>C (n.2762+23G>C)
 gnomAD v4
1g.94000979C>TCA1181397631ABCA4c.6386+23G>A (n.6386+23G>A)
c.2762+23G>A (n.2762+23G>A)
 dbSNP
1g.94000980C>ACA2646644981ABCA4c.6386+22G>T (n.6386+22G>T)
c.2762+22G>T (n.2762+22G>T)
 gnomAD v4
1g.94000982C=CA1181397633ABCA4c.6386+20G= (n.6386+20G=)
c.2762+20G= (n.2762+20G=)
1g.94000982C>TCA524697325ABCA4c.6386+20G>A (n.6386+20G>A)
c.2762+20G>A (n.2762+20G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94000985C>TCA2574437861ABCA4c.6386+17G>A (n.6386+17G>A)
c.2762+17G>A (n.2762+17G>A)
 gnomAD v4
1g.94000986C>TCA2646644982ABCA4c.6386+16G>A (n.6386+16G>A)
c.2762+16G>A (n.2762+16G>A)
 gnomAD v4
1g.94000987C>GCA2646644983ABCA4c.6386+15G>C (n.6386+15G>C)
c.2762+15G>C (n.2762+15G>C)
 gnomAD v4
1g.94000989G>CCA740502601ABCA4c.6386+13C>G (n.6386+13C>G)
c.2762+13C>G (n.2762+13C>G)
 dbSNP gnomAD v4
1g.94000989G=CA1181397634ABCA4c.6386+13C= (n.6386+13C=)
c.2762+13C= (n.2762+13C=)
1g.94000989G>TCA2574437862ABCA4c.6386+13C>A (n.6386+13C>A)
c.2762+13C>A (n.2762+13C>A)
1g.94000991G>ACA956890ABCA4c.6386+11C>T (n.6386+11C>T)
c.2762+11C>T (n.2762+11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94000991G=CA1181397637ABCA4c.6386+11C= (n.6386+11C=)
c.2762+11C= (n.2762+11C=)
1g.94000991G>TCA524697326ABCA4c.6386+11C>A (n.6386+11C>A)
c.2762+11C>A (n.2762+11C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94000992A>TCA2580063367ABCA4c.6386+10T>A (n.6386+10T>A)
c.2762+10T>A (n.2762+10T>A)
 ClinVar gnomAD v4
1g.94000993A>CCA2646644984ABCA4c.6386+9T>G (n.6386+9T>G)
c.2762+9T>G (n.2762+9T>G)
 gnomAD v4
1g.94000993A>GCA2744613977ABCA4c.6386+9T>C (n.6386+9T>C)
c.2762+9T>C (n.2762+9T>C)
1g.94000994T>GCA524697327ABCA4c.6386+8A>C (n.6386+8A>C)
c.2762+8A>C (n.2762+8A>C)
 dbSNP gnomAD v2 gnomAD v4
1g.94000994T=CA1181397639ABCA4c.6386+8A= (n.6386+8A=)
c.2762+8A= (n.2762+8A=)
1g.94000995C>ACA2646644985ABCA4c.6386+7G>T (n.6386+7G>T)
c.2762+7G>T (n.2762+7G>T)
 gnomAD v4
1g.94000996T>GCA2646644986ABCA4c.6386+6A>C (n.6386+6A>C)
c.2762+6A>C (n.2762+6A>C)
 gnomAD v4
1g.94000998T>CCA2695198061ABCA4c.6386+4A>G (n.6386+4A>G)
c.2762+4A>G (n.2762+4A>G)
 ClinVar
1g.94000999T>CCA2586966854ABCA4c.6386+3A>G (n.6386+3A>G)
c.2762+3A>G (n.2762+3A>G)
 gnomAD v4
1g.94000999T>GCA2573132673ABCA4c.6386+3A>C (n.6386+3A>C)
c.2762+3A>C (n.2762+3A>C)
 ClinVar dbSNP
1g.94001000G>ACA341277421ABCA4c.6386+2C>T (n.6386+2C>T)
c.2762+2C>T (n.2762+2C>T)
1g.94001000G>CCA227400ABCA4c.6386+2C>G (n.6386+2C>G)
c.2762+2C>G (n.2762+2C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94001000G=CA1140725971ABCA4c.6386+2C= (n.6386+2C=)
c.2762+2C= (n.2762+2C=)
1g.94001000G>TCA341277422ABCA4c.6386+2C>A (n.6386+2C>A)
c.2762+2C>A (n.2762+2C>A)
1g.94001001C>ACA341277423ABCA4c.6386+1G>T (n.6386+1G>T)
c.2762+1G>T (n.2762+1G>T)
 dbSNP
1g.94001001C=CA1148251388ABCA4c.6386+1G= (n.6386+1G=)
c.2762+1G= (n.2762+1G=)
1g.94001001C>GCA341277424ABCA4c.6386+1G>C (n.6386+1G>C)
c.2762+1G>C (n.2762+1G>C)
1g.94001001C>TCA956891ABCA4c.6386+1G>A (n.6386+1G>A)
c.2762+1G>A (n.2762+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001002C>ACA341277425ABCA4c.6386G>T (p.Ser2129Ile)
c.2762G>T (p.Ser921Ile)
 COSMIC
1g.94001002C=CA1181397652ABCA4c.6386G= (p.Ser2129=)
c.2762G= (p.Ser921=)
1g.94001002C>GCA341277426ABCA4c.6386G>C (p.Ser2129Thr)
c.2762G>C (p.Ser921Thr)
1g.94001002C>TCA341277427ABCA4c.6386G>A (p.Ser2129Asn)
c.2762G>A (p.Ser921Asn)
 ClinVar dbSNP gnomAD v4
1g.94001003T>ACA341277428ABCA4c.6385A>T (p.Ser2129Cys)
c.2761A>T (p.Ser921Cys)
1g.94001003T>CCA341277429ABCA4c.6385A>G (p.Ser2129Gly)
c.2761A>G (p.Ser921Gly)
 gnomAD v4
1g.94001003T>GCA341277430ABCA4c.6385A>C (p.Ser2129Arg)
c.2761A>C (p.Ser921Arg)
1g.94001004G>ACA418810716ABCA4c.6384C>T (p.His2128=)
c.2760C>T (p.His920=)
 ClinVar dbSNP
1g.94001004G>CCA341277431ABCA4c.6384C>G (p.His2128Gln)
c.2760C>G (p.His920Gln)
1g.94001004G>TCA341277432ABCA4c.6384C>A (p.His2128Gln)
c.2760C>A (p.His920Gln)
1g.94001005T>ACA341277433ABCA4c.6383A>T (p.His2128Leu)
c.2759A>T (p.His920Leu)
1g.94001005T>CCA227399ABCA4c.6383A>G (p.His2128Arg)
c.2759A>G (p.His920Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001005T>GCA341277434ABCA4c.6383A>C (p.His2128Pro)
c.2759A>C (p.His920Pro)
1g.94001005T=CA1140725975ABCA4c.6383A= (p.His2128=)
c.2759A= (p.His920=)
1g.94001006G>ACA341277435ABCA4c.6382C>T (p.His2128Tyr)
c.2758C>T (p.His920Tyr)
1g.94001006G>CCA341277436ABCA4c.6382C>G (p.His2128Asp)
c.2758C>G (p.His920Asp)
1g.94001006G>TCA341277437ABCA4c.6382C>A (p.His2128Asn)
c.2758C>A (p.His920Asn)
1g.94001007G>ACA418810727ABCA4c.6381C>T (p.Ser2127=)
c.2757C>T (p.Ser919=)
1g.94001007G>CCA418810730ABCA4c.6381C>G (p.Ser2127=)
c.2757C>G (p.Ser919=)
 dbSNP gnomAD v4
1g.94001007G=CA1181397664ABCA4c.6381C= (p.Ser2127=)
c.2757C= (p.Ser919=)
1g.94001007G>TCA418810728ABCA4c.6381C>A (p.Ser2127=)
c.2757C>A (p.Ser919=)
1g.94001008G>ACA341277438ABCA4c.6380C>T (p.Ser2127Phe)
c.2756C>T (p.Ser919Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94001008G>CCA341277439ABCA4c.6380C>G (p.Ser2127Cys)
c.2756C>G (p.Ser919Cys)
1g.94001008G=CA1181397669ABCA4c.6380C= (p.Ser2127=)
c.2756C= (p.Ser919=)
1g.94001008G>TCA341277440ABCA4c.6380C>A (p.Ser2127Tyr)
c.2756C>A (p.Ser919Tyr)
1g.94001009A>CCA341277441ABCA4c.6379T>G (p.Ser2127Ala)
c.2755T>G (p.Ser919Ala)
1g.94001009A>GCA341277442ABCA4c.6379T>C (p.Ser2127Pro)
c.2755T>C (p.Ser919Pro)
 ClinVar dbSNP
1g.94001009A>TCA341277443ABCA4c.6379T>A (p.Ser2127Thr)
c.2755T>A (p.Ser919Thr)
1g.94001010T>ACA418810740ABCA4c.6378A>T (p.Thr2126=)
c.2754A>T (p.Thr918=)
 dbSNP
1g.94001010T>CCA418810742ABCA4c.6378A>G (p.Thr2126=)
c.2754A>G (p.Thr918=)
 dbSNP gnomAD v2 gnomAD v4
1g.94001010T>GCA418810744ABCA4c.6378A>C (p.Thr2126=)
c.2754A>C (p.Thr918=)
1g.94001010T=CA1181397672ABCA4c.6378A= (p.Thr2126=)
c.2754A= (p.Thr918=)
1g.94001011G>ACA341277446ABCA4c.6377C>T (p.Thr2126Ile)
c.2753C>T (p.Thr918Ile)
 ClinVar dbSNP
1g.94001011G>CCA341277444ABCA4c.6377C>G (p.Thr2126Arg)
c.2753C>G (p.Thr918Arg)
1g.94001011G>TCA341277445ABCA4c.6377C>A (p.Thr2126Lys)
c.2753C>A (p.Thr918Lys)
1g.94001012T>ACA956892ABCA4c.6376A>T (p.Thr2126Ser)
c.2752A>T (p.Thr918Ser)
 dbSNP ExAC gnomAD v4
1g.94001012T>CCA341277448ABCA4c.6376A>G (p.Thr2126Ala)
c.2752A>G (p.Thr918Ala)
1g.94001012T>GCA341277447ABCA4c.6376A>C (p.Thr2126Pro)
c.2752A>C (p.Thr918Pro)
1g.94001012T=CA1181397675ABCA4c.6376A= (p.Thr2126=)
c.2752A= (p.Thr918=)
1g.94001013G>ACA418810755ABCA4c.6375C>T (p.Leu2125=)
c.2751C>T (p.Leu917=)
1g.94001013G>CCA418810759ABCA4c.6375C>G (p.Leu2125=)
c.2751C>G (p.Leu917=)
1g.94001013G>TCA418810757ABCA4c.6375C>A (p.Leu2125=)
c.2751C>A (p.Leu917=)
1g.94001014A>CCA341277449ABCA4c.6374T>G (p.Leu2125Arg)
c.2750T>G (p.Leu917Arg)
1g.94001014A>GCA341277450ABCA4c.6374T>C (p.Leu2125Pro)
c.2750T>C (p.Leu917Pro)
1g.94001014A>TCA341277451ABCA4c.6374T>A (p.Leu2125His)
c.2750T>A (p.Leu917His)
1g.94001015G>ACA341277452ABCA4c.6373C>T (p.Leu2125Phe)
c.2749C>T (p.Leu917Phe)
1g.94001015G>CCA341277453ABCA4c.6373C>G (p.Leu2125Val)
c.2749C>G (p.Leu917Val)
1g.94001015G>TCA341277454ABCA4c.6373C>A (p.Leu2125Ile)
c.2749C>A (p.Leu917Ile)
1g.94001016G>ACA418810766ABCA4c.6372C>T (p.Val2124=)
c.2748C>T (p.Val916=)
1g.94001016G>CCA418810768ABCA4c.6372C>G (p.Val2124=)
c.2748C>G (p.Val916=)
 gnomAD v4
1g.94001016G>TCA418810770ABCA4c.6372C>A (p.Val2124=)
c.2748C>A (p.Val916=)
1g.94001017A>CCA341277455ABCA4c.6371T>G (p.Val2124Gly)
c.2747T>G (p.Val916Gly)
1g.94001017A>GCA341277456ABCA4c.6371T>C (p.Val2124Ala)
c.2747T>C (p.Val916Ala)
1g.94001017A>TCA341277457ABCA4c.6371T>A (p.Val2124Asp)
c.2747T>A (p.Val916Asp)
1g.94001018C>ACA341277458ABCA4c.6370G>T (p.Val2124Phe)
c.2746G>T (p.Val916Phe)
1g.94001018C=CA1149069588ABCA4c.6370G= (p.Val2124=)
c.2746G= (p.Val916=)
1g.94001018C>GCA341277459ABCA4c.6370G>C (p.Val2124Leu)
c.2746G>C (p.Val916Leu)
1g.94001018C>TCA956893ABCA4c.6370G>A (p.Val2124Ile)
c.2746G>A (p.Val916Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001019C>ACA418810780ABCA4c.6369G>T (p.Val2123=)
c.2745G>T (p.Val915=)
1g.94001019C>GCA418810782ABCA4c.6369G>C (p.Val2123=)
c.2745G>C (p.Val915=)
1g.94001019C>TCA418810783ABCA4c.6369G>A (p.Val2123=)
c.2745G>A (p.Val915=)
 ClinVar gnomAD v4
1g.94001020A>CCA341277462ABCA4c.6368T>G (p.Val2123Gly)
c.2744T>G (p.Val915Gly)
1g.94001020A>GCA341277460ABCA4c.6368T>C (p.Val2123Ala)
c.2744T>C (p.Val915Ala)
1g.94001020A>TCA341277461ABCA4c.6368T>A (p.Val2123Glu)
c.2744T>A (p.Val915Glu)
1g.94001021C>ACA341277463ABCA4c.6367G>T (p.Val2123Leu)
c.2743G>T (p.Val915Leu)
1g.94001021C=CA1144652171ABCA4c.6367G= (p.Val2123=)
c.2743G= (p.Val915=)
1g.94001021C>GCA341277464ABCA4c.6367G>C (p.Val2123Leu)
c.2743G>C (p.Val915Leu)
1g.94001021C>TCA956894ABCA4c.6367G>A (p.Val2123Met)
c.2743G>A (p.Val915Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001022A>CCA418810798ABCA4c.6366T>G (p.Ala2122=)
c.2742T>G (p.Ala914=)
1g.94001022A>GCA418810793ABCA4c.6366T>C (p.Ala2122=)
c.2742T>C (p.Ala914=)
1g.94001022A>TCA418810795ABCA4c.6366T>A (p.Ala2122=)
c.2742T>A (p.Ala914=)
1g.94001023G>ACA341277465ABCA4c.6365C>T (p.Ala2122Val)
c.2741C>T (p.Ala914Val)
1g.94001023G>CCA341277466ABCA4c.6365C>G (p.Ala2122Gly)
c.2741C>G (p.Ala914Gly)
1g.94001023G>TCA341277467ABCA4c.6365C>A (p.Ala2122Asp)
c.2741C>A (p.Ala914Asp)
 COSMIC COSMIC
1g.94001024C>ACA341277468ABCA4c.6364G>T (p.Ala2122Ser)
c.2740G>T (p.Ala914Ser)
 gnomAD v4
1g.94001024C>GCA341277469ABCA4c.6364G>C (p.Ala2122Pro)
c.2740G>C (p.Ala914Pro)
1g.94001024C>TCA341277470ABCA4c.6364G>A (p.Ala2122Thr)
c.2740G>A (p.Ala914Thr)
1g.94001025C>ACA341277471ABCA4c.6363G>T (p.Arg2121Ser)
c.2739G>T (p.Arg913Ser)
1g.94001025C>GCA341277472ABCA4c.6363G>C (p.Arg2121Ser)
c.2739G>C (p.Arg913Ser)
1g.94001025C>TCA418810809ABCA4c.6363G>A (p.Arg2121=)
c.2739G>A (p.Arg913=)
1g.94001026C>ACA341277475ABCA4c.6362G>T (p.Arg2121Met)
c.2738G>T (p.Arg913Met)
1g.94001026C>GCA341277474ABCA4c.6362G>C (p.Arg2121Thr)
c.2738G>C (p.Arg913Thr)
1g.94001026C>TCA341277473ABCA4c.6362G>A (p.Arg2121Lys)
c.2738G>A (p.Arg913Lys)
 gnomAD v4
1g.94001027T>ACA341277477ABCA4c.6361A>T (p.Arg2121Trp)
c.2737A>T (p.Arg913Trp)
1g.94001027T>CCA341277476ABCA4c.6361A>G (p.Arg2121Gly)
c.2737A>G (p.Arg913Gly)
1g.94001027T>GCA418810815ABCA4c.6361A>C (p.Arg2121=)
c.2737A>C (p.Arg913=)
1g.94001028C>ACA418810822ABCA4c.6360G>T (p.Gly2120=)
c.2736G>T (p.Gly912=)
1g.94001028C=CA1181397682ABCA4c.6360G= (p.Gly2120=)
c.2736G= (p.Gly912=)
1g.94001028C>GCA418810819ABCA4c.6360G>C (p.Gly2120=)
c.2736G>C (p.Gly912=)
 gnomAD v4
1g.94001028C>TCA418810820ABCA4c.6360G>A (p.Gly2120=)
c.2736G>A (p.Gly912=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94001029C>ACA341277478ABCA4c.6359G>T (p.Gly2120Val)
c.2735G>T (p.Gly912Val)
1g.94001029C>GCA341277479ABCA4c.6359G>C (p.Gly2120Ala)
c.2735G>C (p.Gly912Ala)
1g.94001029C>TCA341277480ABCA4c.6359G>A (p.Gly2120Glu)
c.2735G>A (p.Gly912Glu)
 COSMIC
1g.94001030C>ACA341277481ABCA4c.6358G>T (p.Gly2120Trp)
c.2734G>T (p.Gly912Trp)
 gnomAD v4
1g.94001030C>GCA341277482ABCA4c.6358G>C (p.Gly2120Arg)
c.2734G>C (p.Gly912Arg)
1g.94001030C>TCA341277483ABCA4c.6358G>A (p.Gly2120Arg)
c.2734G>A (p.Gly912Arg)
1g.94001031T>ACA341277484ABCA4c.6357A>T (p.Glu2119Asp)
c.2733A>T (p.Glu911Asp)
 gnomAD v4
1g.94001031T>CCA956895ABCA4c.6357A>G (p.Glu2119=)
c.2733A>G (p.Glu911=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001031T>GCA341277485ABCA4c.6357A>C (p.Glu2119Asp)
c.2733A>C (p.Glu911Asp)
1g.94001031T=CA1181397688ABCA4c.6357A= (p.Glu2119=)
c.2733A= (p.Glu911=)
1g.94001032T>ACA341277486ABCA4c.6356A>T (p.Glu2119Val)
c.2732A>T (p.Glu911Val)
1g.94001032T>CCA341277487ABCA4c.6356A>G (p.Glu2119Gly)
c.2732A>G (p.Glu911Gly)
1g.94001032T>GCA341277488ABCA4c.6356A>C (p.Glu2119Ala)
c.2732A>C (p.Glu911Ala)
1g.94001033delCA2586966855ABCA4c.6355del (p.Glu2119LysfsTer26)
c.2731del (p.Glu911LysfsTer26)
1g.94001033C>ACA341277491ABCA4c.6355G>T (p.Glu2119Ter)
c.2731G>T (p.Glu911Ter)
1g.94001033C=CA1181397689ABCA4c.6355G= (p.Glu2119=)
c.2731G= (p.Glu911=)
1g.94001033C>GCA341277489ABCA4c.6355G>C (p.Glu2119Gln)
c.2731G>C (p.Glu911Gln)
1g.94001033C>TCA341277490ABCA4c.6355G>A (p.Glu2119Lys)
c.2731G>A (p.Glu911Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.94001034T>ACA341277492ABCA4c.6354A>T (p.Arg2118Ser)
c.2730A>T (p.Arg910Ser)
1g.94001034T>CCA418810845ABCA4c.6354A>G (p.Arg2118=)
c.2730A>G (p.Arg910=)
 gnomAD v4
1g.94001034T>GCA341277493ABCA4c.6354A>C (p.Arg2118Ser)
c.2730A>C (p.Arg910Ser)
1g.94001035C>ACA341277494ABCA4c.6353G>T (p.Arg2118Ile)
c.2729G>T (p.Arg910Ile)
1g.94001035C>GCA341277495ABCA4c.6353G>C (p.Arg2118Thr)
c.2729G>C (p.Arg910Thr)
1g.94001035C>TCA341277496ABCA4c.6353G>A (p.Arg2118Lys)
c.2729G>A (p.Arg910Lys)
1g.94001035_94001036delinsCTCA1181397691ABCA4c.6352_6353delinsAG (p.Arg2118=)
c.2728_2729delinsAG (p.Arg910=)
1g.94001036delCA227398ABCA4c.6352del (p.Arg2118GlufsTer27)
c.2728del (p.Arg910GlufsTer27)
 ClinVar dbSNP gnomAD v4
1g.94001036T>ACA341277497ABCA4c.6352A>T (p.Arg2118Ter)
c.2728A>T (p.Arg910Ter)
1g.94001036T>CCA341277498ABCA4c.6352A>G (p.Arg2118Gly)
c.2728A>G (p.Arg910Gly)
1g.94001036T>GCA418810853ABCA4c.6352A>C (p.Arg2118=)
c.2728A>C (p.Arg910=)
1g.94001036T=CA1140725977ABCA4c.6352A= (p.Arg2118=)
c.2728A= (p.Arg910=)
1g.94001037G>ACA418810858ABCA4c.6351C>T (p.Ile2117=)
c.2727C>T (p.Ile909=)
1g.94001037G>CCA341277499ABCA4c.6351C>G (p.Ile2117Met)
c.2727C>G (p.Ile909Met)
1g.94001037G>TCA418810856ABCA4c.6351C>A (p.Ile2117=)
c.2727C>A (p.Ile909=)
1g.94001038A>CCA341277500ABCA4c.6350T>G (p.Ile2117Ser)
c.2726T>G (p.Ile909Ser)
1g.94001038A>GCA341277501ABCA4c.6350T>C (p.Ile2117Thr)
c.2726T>C (p.Ile909Thr)
1g.94001038A>TCA341277502ABCA4c.6350T>A (p.Ile2117Asn)
c.2726T>A (p.Ile909Asn)
1g.94001039T>ACA341277504ABCA4c.6349A>T (p.Ile2117Phe)
c.2725A>T (p.Ile909Phe)
1g.94001039T>CCA341277505ABCA4c.6349A>G (p.Ile2117Val)
c.2725A>G (p.Ile909Val)
1g.94001039T>GCA341277503ABCA4c.6349A>C (p.Ile2117Leu)
c.2725A>C (p.Ile909Leu)
1g.94001040G>ACA418810871ABCA4c.6348C>T (p.Ile2116=)
c.2724C>T (p.Ile908=)
1g.94001040G>CCA341277506ABCA4c.6348C>G (p.Ile2116Met)
c.2724C>G (p.Ile908Met)
1g.94001040G>TCA418810869ABCA4c.6348C>A (p.Ile2116=)
c.2724C>A (p.Ile908=)
1g.94001041A=CA1181397697ABCA4c.6347T= (p.Ile2116=)
c.2723T= (p.Ile908=)
1g.94001041A>CCA341277508ABCA4c.6347T>G (p.Ile2116Ser)
c.2723T>G (p.Ile908Ser)
1g.94001041A>GCA341277507ABCA4c.6347T>C (p.Ile2116Thr)
c.2723T>C (p.Ile908Thr)
1g.94001041A>TCA956896ABCA4c.6347T>A (p.Ile2116Asn)
c.2723T>A (p.Ile908Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001042T>ACA341277509ABCA4c.6346A>T (p.Ile2116Phe)
c.2722A>T (p.Ile908Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.94001042T>CCA956897ABCA4c.6346A>G (p.Ile2116Val)
c.2722A>G (p.Ile908Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001042T>GCA341277510ABCA4c.6346A>C (p.Ile2116Leu)
c.2722A>C (p.Ile908Leu)
1g.94001042T=CA1181397700ABCA4c.6346A= (p.Ile2116=)
c.2722A= (p.Ile908=)
1g.94001043G>ACA418810883ABCA4c.6345C>T (p.Ser2115=)
c.2721C>T (p.Ser907=)
1g.94001043G>CCA341277511ABCA4c.6345C>G (p.Ser2115Arg)
c.2721C>G (p.Ser907Arg)
1g.94001043G>TCA341277512ABCA4c.6345C>A (p.Ser2115Arg)
c.2721C>A (p.Ser907Arg)
 COSMIC COSMIC
1g.94001044C>ACA341277513ABCA4c.6344G>T (p.Ser2115Ile)
c.2720G>T (p.Ser907Ile)
1g.94001044C>GCA341277514ABCA4c.6344G>C (p.Ser2115Thr)
c.2720G>C (p.Ser907Thr)
 gnomAD v4
1g.94001044C>TCA341277515ABCA4c.6344G>A (p.Ser2115Asn)
c.2720G>A (p.Ser907Asn)
 COSMIC
1g.94001045T>ACA341277516ABCA4c.6343A>T (p.Ser2115Cys)
c.2719A>T (p.Ser907Cys)
1g.94001045T>CCA341277517ABCA4c.6343A>G (p.Ser2115Gly)
c.2719A>G (p.Ser907Gly)
1g.94001045T>GCA341277518ABCA4c.6343A>C (p.Ser2115Arg)
c.2719A>C (p.Ser907Arg)
1g.94001046C>ACA418810892ABCA4c.6342G>T (p.Val2114=)
c.2718G>T (p.Val906=)
1g.94001046C=CA1140725980ABCA4c.6342G= (p.Val2114=)
c.2718G= (p.Val906=)
1g.94001046C>GCA418810894ABCA4c.6342G>C (p.Val2114=)
c.2718G>C (p.Val906=)
 dbSNP gnomAD v2 gnomAD v4
1g.94001046C>TCA227396ABCA4c.6342G>A (p.Val2114=)
c.2718G>A (p.Val906=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001047A=CA1181397709ABCA4c.6341T= (p.Val2114=)
c.2717T= (p.Val906=)
1g.94001047A>CCA341277520ABCA4c.6341T>G (p.Val2114Gly)
c.2717T>G (p.Val906Gly)
1g.94001047A>GCA956898ABCA4c.6341T>C (p.Val2114Ala)
c.2717T>C (p.Val906Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001047A>TCA341277519ABCA4c.6341T>A (p.Val2114Glu)
c.2717T>A (p.Val906Glu)
1g.94001048C>ACA341277521ABCA4c.6340G>T (p.Val2114Leu)
c.2716G>T (p.Val906Leu)
1g.94001048C=CA1143527535ABCA4c.6340G= (p.Val2114=)
c.2716G= (p.Val906=)
1g.94001048C>GCA341277522ABCA4c.6340G>C (p.Val2114Leu)
c.2716G>C (p.Val906Leu)
1g.94001048C>TCA956899ABCA4c.6340G>A (p.Val2114Met)
c.2716G>A (p.Val906Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94001049G>ACA956900ABCA4c.6339C>T (p.Ile2113=)
c.2715C>T (p.Ile905=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001049G>CCA227394ABCA4c.6339C>G (p.Ile2113Met)
c.2715C>G (p.Ile905Met)
 ClinVar dbSNP
1g.94001049G=CA1140725981ABCA4c.6339C= (p.Ile2113=)
c.2715C= (p.Ile905=)
1g.94001049G>TCA418810903ABCA4c.6339C>A (p.Ile2113=)
c.2715C>A (p.Ile905=)
1g.94001050A>CCA341277523ABCA4c.6338T>G (p.Ile2113Ser)
c.2714T>G (p.Ile905Ser)
1g.94001050A>GCA341277524ABCA4c.6338T>C (p.Ile2113Thr)
c.2714T>C (p.Ile905Thr)
1g.94001050A>TCA341277525ABCA4c.6338T>A (p.Ile2113Asn)
c.2714T>A (p.Ile905Asn)
1g.94001051T>ACA341277526ABCA4c.6337A>T (p.Ile2113Phe)
c.2713A>T (p.Ile905Phe)
1g.94001051T>CCA341277527ABCA4c.6337A>G (p.Ile2113Val)
c.2713A>G (p.Ile905Val)
1g.94001051T>GCA956901ABCA4c.6337A>C (p.Ile2113Leu)
c.2713A>C (p.Ile905Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001051T=CA1181397721ABCA4c.6337A= (p.Ile2113=)
c.2713A= (p.Ile905=)
1g.94001052G>ACA418810914ABCA4c.6336C>T (p.Val2112=)
c.2712C>T (p.Val904=)
 dbSNP gnomAD v4
1g.94001052G>CCA418810918ABCA4c.6336C>G (p.Val2112=)
c.2712C>G (p.Val904=)
1g.94001052G=CA1181397723ABCA4c.6336C= (p.Val2112=)
c.2712C= (p.Val904=)
1g.94001052G>TCA418810916ABCA4c.6336C>A (p.Val2112=)
c.2712C>A (p.Val904=)
1g.94001053delCA2646644987ABCA4c.6335del (p.Val2112AlafsTer3)
c.2711del (p.Val904AlafsTer3)
 gnomAD v4
1g.94001053A>CCA341277530ABCA4c.6335T>G (p.Val2112Gly)
c.2711T>G (p.Val904Gly)
1g.94001053A>GCA341277529ABCA4c.6335T>C (p.Val2112Ala)
c.2711T>C (p.Val904Ala)
 gnomAD v4
1g.94001053A>TCA341277528ABCA4c.6335T>A (p.Val2112Asp)
c.2711T>A (p.Val904Asp)
1g.94001054C>ACA341277531ABCA4c.6334G>T (p.Val2112Phe)
c.2710G>T (p.Val904Phe)
 gnomAD v4
1g.94001054C=CA1147570206ABCA4c.6334G= (p.Val2112=)
c.2710G= (p.Val904=)
1g.94001054C>GCA956903ABCA4c.6334G>C (p.Val2112Leu)
c.2710G>C (p.Val904Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001054C>TCA956902ABCA4c.6334G>A (p.Val2112Ile)
c.2710G>A (p.Val904Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.94001055G>ACA956904ABCA4c.6333C>T (p.Asn2111=)
c.2709C>T (p.Asn903=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001055G>CCA341277532ABCA4c.6333C>G (p.Asn2111Lys)
c.2709C>G (p.Asn903Lys)
1g.94001055G=CA1143804838ABCA4c.6333C= (p.Asn2111=)
c.2709C= (p.Asn903=)
1g.94001055G>TCA341277533ABCA4c.6333C>A (p.Asn2111Lys)
c.2709C>A (p.Asn903Lys)
 dbSNP gnomAD v2
1g.94001056T>ACA341277534ABCA4c.6332A>T (p.Asn2111Ile)
c.2708A>T (p.Asn903Ile)
1g.94001056T>CCA341277535ABCA4c.6332A>G (p.Asn2111Ser)
c.2708A>G (p.Asn903Ser)
1g.94001056T>GCA341277536ABCA4c.6332A>C (p.Asn2111Thr)
c.2708A>C (p.Asn903Thr)
1g.94001056_94001065delinsTTCCACAGCACA1181397732ABCA4c.6323_6332delinsTGCTGTGGAA (p.Met2108=)
c.2699_2708delinsTGCTGTGGAA (p.Met900=)
1g.94001057T>ACA341277537ABCA4c.6331A>T (p.Asn2111Tyr)
c.2707A>T (p.Asn903Tyr)
1g.94001057T>CCA341277538ABCA4c.6331A>G (p.Asn2111Asp)
c.2707A>G (p.Asn903Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94001057T>GCA341277539ABCA4c.6331A>C (p.Asn2111His)
c.2707A>C (p.Asn903His)
1g.94001057T=CA1181397737ABCA4c.6331A= (p.Asn2111=)
c.2707A= (p.Asn903=)
1g.94001057_94001065delinsGCCCA1181397736ABCA4c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis)
c.2699_2707delinsGGC (p.Met900_Asn903delinsArgHis)
 ClinVar dbSNP
1g.94001058C>ACA341277542ABCA4c.6330G>T (p.Trp2110Cys)
c.2706G>T (p.Trp902Cys)
1g.94001058C>GCA341277540ABCA4c.6330G>C (p.Trp2110Cys)
c.2706G>C (p.Trp902Cys)
1g.94001058C>TCA341277541ABCA4c.6330G>A (p.Trp2110Ter)
c.2706G>A (p.Trp902Ter)
1g.94001059C>ACA341277543ABCA4c.6329G>T (p.Trp2110Leu)
c.2705G>T (p.Trp902Leu)
1g.94001059C=CA1140762679ABCA4c.6329G= (p.Trp2110=)
c.2705G= (p.Trp902=)
1g.94001059C>GCA341277544ABCA4c.6329G>C (p.Trp2110Ser)
c.2705G>C (p.Trp902Ser)
1g.94001059C>TCA227392ABCA4c.6329G>A (p.Trp2110Ter)
c.2705G>A (p.Trp902Ter)
 ClinVar dbSNP
1g.94001060A>CCA341277545ABCA4c.6328T>G (p.Trp2110Gly)
c.2704T>G (p.Trp902Gly)
1g.94001060A>GCA341277546ABCA4c.6328T>C (p.Trp2110Arg)
c.2704T>C (p.Trp902Arg)
 ClinVar gnomAD v4
1g.94001060A>TCA341277547ABCA4c.6328T>A (p.Trp2110Arg)
c.2704T>A (p.Trp902Arg)
1g.94001061C>ACA418810948ABCA4c.6327G>T (p.Leu2109=)
c.2703G>T (p.Leu901=)
1g.94001061C=CA1181397742ABCA4c.6327G= (p.Leu2109=)
c.2703G= (p.Leu901=)
1g.94001061C>GCA418810950ABCA4c.6327G>C (p.Leu2109=)
c.2703G>C (p.Leu901=)
1g.94001061C>TCA418810952ABCA4c.6327G>A (p.Leu2109=)
c.2703G>A (p.Leu901=)
 dbSNP gnomAD v2 gnomAD v4
1g.94001062A=CA1181397746ABCA4c.6326T= (p.Leu2109=)
c.2702T= (p.Leu901=)
1g.94001062A>CCA341277548ABCA4c.6326T>G (p.Leu2109Arg)
c.2702T>G (p.Leu901Arg)
1g.94001062A>GCA10602407ABCA4c.6326T>C (p.Leu2109Pro)
c.2702T>C (p.Leu901Pro)
 ClinVar dbSNP
1g.94001062A>TCA341277549ABCA4c.6326T>A (p.Leu2109Gln)
c.2702T>A (p.Leu901Gln)
1g.94001063G>ACA956905ABCA4c.6325C>T (p.Leu2109=)
c.2701C>T (p.Leu901=)
 dbSNP ExAC gnomAD v2
1g.94001063G>CCA341277550ABCA4c.6325C>G (p.Leu2109Val)
c.2701C>G (p.Leu901Val)
1g.94001063G=CA1144098362ABCA4c.6325C= (p.Leu2109=)
c.2701C= (p.Leu901=)
1g.94001063G>TCA341277551ABCA4c.6325C>A (p.Leu2109Met)
c.2701C>A (p.Leu901Met)
1g.94001065_94001071delCA645372222ABCA4c.6319_6325del (p.Arg2107CysfsTer6)
c.2695_2701del (p.Arg899CysfsTer6)
1g.94001064C>ACA341277553ABCA4c.6324G>T (p.Met2108Ile)
c.2700G>T (p.Met900Ile)
1g.94001064C>GCA341277554ABCA4c.6324G>C (p.Met2108Ile)
c.2700G>C (p.Met900Ile)
1g.94001064C>TCA341277552ABCA4c.6324G>A (p.Met2108Ile)
c.2700G>A (p.Met900Ile)
 gnomAD v4 COSMIC COSMIC
1g.94001065A>CCA341277555ABCA4c.6323T>G (p.Met2108Arg)
c.2699T>G (p.Met900Arg)
1g.94001065A>GCA341277556ABCA4c.6323T>C (p.Met2108Thr)
c.2699T>C (p.Met900Thr)
1g.94001065A>TCA341277557ABCA4c.6323T>A (p.Met2108Lys)
c.2699T>A (p.Met900Lys)
1g.94001066T>ACA341277558ABCA4c.6322A>T (p.Met2108Leu)
c.2698A>T (p.Met900Leu)
1g.94001066T>CCA341277559ABCA4c.6322A>G (p.Met2108Val)
c.2698A>G (p.Met900Val)
1g.94001066T>GCA341277560ABCA4c.6322A>C (p.Met2108Leu)
c.2698A>C (p.Met900Leu)
1g.94001067G>ACA418810970ABCA4c.6321C>T (p.Arg2107=)
c.2697C>T (p.Arg899=)
1g.94001067G>CCA418810974ABCA4c.6321C>G (p.Arg2107=)
c.2697C>G (p.Arg899=)
1g.94001067G>TCA418810972ABCA4c.6321C>A (p.Arg2107=)
c.2697C>A (p.Arg899=)
1g.94001068C>ACA341277561ABCA4c.6320G>T (p.Arg2107Leu)
c.2696G>T (p.Arg899Leu)
1g.94001068C=CA1140762680ABCA4c.6320G= (p.Arg2107=)
c.2696G= (p.Arg899=)
1g.94001068C>GCA227390ABCA4c.6320G>C (p.Arg2107Pro)
c.2696G>C (p.Arg899Pro)
 ClinVar dbSNP
1g.94001068C>TCA227389ABCA4c.6320G>A (p.Arg2107His)
c.2696G>A (p.Arg899His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.[94001068C>T;94042767G>A]CA2499306151ABCA4c.[3322C>T;6320G>A] (p.[Arg1108Cys;Arg2107His])
c.[-64-2678C>T;2696G>A] (p.Arg899His)
1g.94001069G>ACA956906ABCA4c.6319C>T (p.Arg2107Cys)
c.2695C>T (p.Arg899Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001069G>CCA341277562ABCA4c.6319C>G (p.Arg2107Gly)
c.2695C>G (p.Arg899Gly)
1g.94001069G=CA1139927669ABCA4c.6319C= (p.Arg2107=)
c.2695C= (p.Arg899=)
1g.94001069G>TCA26831758ABCA4c.6319C>A (p.Arg2107Ser)
c.2695C>A (p.Arg899Ser)
 ClinVar dbSNP
1g.94001070G>ACA418810984ABCA4c.6318C>T (p.Arg2106=)
c.2694C>T (p.Arg898=)
1g.94001070G>CCA418810986ABCA4c.6318C>G (p.Arg2106=)
c.2694C>G (p.Arg898=)
1g.94001070G>TCA418810988ABCA4c.6318C>A (p.Arg2106=)
c.2694C>A (p.Arg898=)
1g.94001070_94001071delinsGCCA1181397771ABCA4c.6317_6318delinsGC (p.Arg2106=)
c.2693_2694delinsGC (p.Arg898=)
1g.94001071delCA1139656184ABCA4c.6317del (p.Arg2106ProfsTer9)
c.2693del (p.Arg898ProfsTer9)
 ClinVar dbSNP
1g.94001071C>ACA341277563ABCA4c.6317G>T (p.Arg2106Leu)
c.2693G>T (p.Arg898Leu)
1g.94001071C=CA1181397777ABCA4c.6317G= (p.Arg2106=)
c.2693G= (p.Arg898=)
1g.94001071C>GCA341277564ABCA4c.6317G>C (p.Arg2106Pro)
c.2693G>C (p.Arg898Pro)
1g.94001071C>TCA16044110ABCA4c.6317G>A (p.Arg2106His)
c.2693G>A (p.Arg898His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94001072_94001085dupCA2739272659ABCA4c.6304_6317dup (p.Arg2107ThrfsTer13)
c.2680_2693dup (p.Arg899ThrfsTer13)
 ClinVar
1g.94001072G>ACA227388ABCA4c.6316C>T (p.Arg2106Cys)
c.2692C>T (p.Arg898Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001072G>CCA341277566ABCA4c.6316C>G (p.Arg2106Gly)
c.2692C>G (p.Arg898Gly)
1g.94001072G=CA1140725982ABCA4c.6316C= (p.Arg2106=)
c.2692C= (p.Arg898=)
1g.94001072G>TCA341277565ABCA4c.6316C>A (p.Arg2106Ser)
c.2692C>A (p.Arg898Ser)
1g.94001073T>ACA418810994ABCA4c.6315A>T (p.Ala2105=)
c.2691A>T (p.Ala897=)
1g.94001073T>CCA418810996ABCA4c.6315A>G (p.Ala2105=)
c.2691A>G (p.Ala897=)
 gnomAD v4
1g.94001073T>GCA418810997ABCA4c.6315A>C (p.Ala2105=)
c.2691A>C (p.Ala897=)
1g.94001074G>ACA341277567ABCA4c.6314C>T (p.Ala2105Val)
c.2690C>T (p.Ala897Val)
1g.94001074G>CCA341277568ABCA4c.6314C>G (p.Ala2105Gly)
c.2690C>G (p.Ala897Gly)
1g.94001074G>TCA341277569ABCA4c.6314C>A (p.Ala2105Glu)
c.2690C>A (p.Ala897Glu)
1g.94001074_94001075delinsGCCA1181397785ABCA4c.6313_6314delinsGC (p.Ala2105=)
c.2689_2690delinsGC (p.Ala897=)
1g.94001075C>ACA341277570ABCA4c.6313G>T (p.Ala2105Ser)
c.2689G>T (p.Ala897Ser)
1g.94001075C=CA1149103074ABCA4c.6313G= (p.Ala2105=)
c.2689G= (p.Ala897=)
1g.94001075C>GCA341277571ABCA4c.6313G>C (p.Ala2105Pro)
c.2689G>C (p.Ala897Pro)
1g.94001075C>TCA956908ABCA4c.6313G>A (p.Ala2105Thr)
c.2689G>A (p.Ala897Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001076delCA956907ABCA4c.6313del (p.Ala2105HisfsTer10)
c.2689del (p.Ala897HisfsTer10)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001076C>ACA341277572ABCA4c.6312G>T (p.Gln2104His)
c.2688G>T (p.Gln896His)
 COSMIC
1g.94001076C>GCA341277573ABCA4c.6312G>C (p.Gln2104His)
c.2688G>C (p.Gln896His)
1g.94001076C>TCA418811009ABCA4c.6312G>A (p.Gln2104=)
c.2688G>A (p.Gln896=)
1g.94001077T>ACA341277574ABCA4c.6311A>T (p.Gln2104Leu)
c.2687A>T (p.Gln896Leu)
1g.94001077T>CCA341277575ABCA4c.6311A>G (p.Gln2104Arg)
c.2687A>G (p.Gln896Arg)
 ClinVar dbSNP
1g.94001077T>GCA341277576ABCA4c.6311A>C (p.Gln2104Pro)
c.2687A>C (p.Gln896Pro)
1g.94001077T=CA1181397787ABCA4c.6311A= (p.Gln2104=)
c.2687A= (p.Gln896=)
1g.94001078G>ACA341277577ABCA4c.6310C>T (p.Gln2104Ter)
c.2686C>T (p.Gln896Ter)
 ClinVar
1g.94001078G>CCA341277579ABCA4c.6310C>G (p.Gln2104Glu)
c.2686C>G (p.Gln896Glu)
 gnomAD v4
1g.94001078G>TCA341277578ABCA4c.6310C>A (p.Gln2104Lys)
c.2686C>A (p.Gln896Lys)
1g.94001082dupCA2573132674ABCA4c.6310dup (p.Gln2104ProfsTer?)
c.2686dup (p.Gln896ProfsTer?)
 ClinVar dbSNP
1g.94001082delCA2739291988ABCA4c.6310del (p.Gln2104ArgfsTer11)
c.2686del (p.Gln896ArgfsTer11)
1g.94001081_94001082delCA2586966857ABCA4c.6309_6310del (p.Gln2104GlyfsTer?)
c.2685_2686del (p.Gln896GlyfsTer?)
1g.94001079G>ACA418811020ABCA4c.6309C>T (p.Pro2103=)
c.2685C>T (p.Pro895=)
1g.94001079G>CCA418811021ABCA4c.6309C>G (p.Pro2103=)
c.2685C>G (p.Pro895=)
1g.94001079G>TCA418811022ABCA4c.6309C>A (p.Pro2103=)
c.2685C>A (p.Pro895=)

Number of alleles fetched