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.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=)
1g.94001080G>ACA341277580ABCA4c.6308C>T (p.Pro2103Leu)
c.2684C>T (p.Pro895Leu)
1g.94001080G>CCA341277581ABCA4c.6308C>G (p.Pro2103Arg)
c.2684C>G (p.Pro895Arg)
1g.94001080G>TCA341277582ABCA4c.6308C>A (p.Pro2103His)
c.2684C>A (p.Pro895His)
 ClinVar dbSNP
1g.94001080_94001089delinsTGGTCCATCTCA2586966858ABCA4c.6299_6308delinsAGATGGACCA (p.Gly2100_Pro2103delinsGluMetAspHis)
c.2675_2684delinsAGATGGACCA (p.Gly892_Pro895delinsGluMetAspHis)
1g.94001081G>ACA341277583ABCA4c.6307C>T (p.Pro2103Ser)
c.2683C>T (p.Pro895Ser)
 gnomAD v4
1g.94001081G>CCA341277584ABCA4c.6307C>G (p.Pro2103Ala)
c.2683C>G (p.Pro895Ala)
1g.94001081G>TCA341277585ABCA4c.6307C>A (p.Pro2103Thr)
c.2683C>A (p.Pro895Thr)
 gnomAD v4
1g.94001082G>ACA956909ABCA4c.6306C>T (p.Asp2102=)
c.2682C>T (p.Asp894=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001082G>CCA341277586ABCA4c.6306C>G (p.Asp2102Glu)
c.2682C>G (p.Asp894Glu)
1g.94001082G=CA1147387616ABCA4c.6306C= (p.Asp2102=)
c.2682C= (p.Asp894=)
1g.94001082G>TCA956910ABCA4c.6306C>A (p.Asp2102Glu)
c.2682C>A (p.Asp894Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001083T>ACA341277587ABCA4c.6305A>T (p.Asp2102Val)
c.2681A>T (p.Asp894Val)
1g.94001083T>CCA341277588ABCA4c.6305A>G (p.Asp2102Gly)
c.2681A>G (p.Asp894Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.94001083T>GCA341277589ABCA4c.6305A>C (p.Asp2102Ala)
c.2681A>C (p.Asp894Ala)
 ClinVar dbSNP gnomAD v4
1g.94001083T=CA1181397792ABCA4c.6305A= (p.Asp2102=)
c.2681A= (p.Asp894=)
1g.94001084C>ACA341277592ABCA4c.6304G>T (p.Asp2102Tyr)
c.2680G>T (p.Asp894Tyr)
1g.94001084C>GCA341277591ABCA4c.6304G>C (p.Asp2102His)
c.2680G>C (p.Asp894His)
 gnomAD v4
1g.94001084C>TCA341277590ABCA4c.6304G>A (p.Asp2102Asn)
c.2680G>A (p.Asp894Asn)
1g.94001085delCA2646644988ABCA4c.6304del (p.Asp2102ThrfsTer13)
c.2680del (p.Asp894ThrfsTer13)
 gnomAD v4
1g.94001085C>ACA341277593ABCA4c.6303G>T (p.Met2101Ile)
c.2679G>T (p.Met893Ile)
1g.94001085C>GCA341277594ABCA4c.6303G>C (p.Met2101Ile)
c.2679G>C (p.Met893Ile)
1g.94001085C>TCA341277595ABCA4c.6303G>A (p.Met2101Ile)
c.2679G>A (p.Met893Ile)
 gnomAD v4 COSMIC COSMIC
1g.94001086A=CA1181397794ABCA4c.6302T= (p.Met2101=)
c.2678T= (p.Met893=)
1g.94001086A>CCA341277596ABCA4c.6302T>G (p.Met2101Arg)
c.2678T>G (p.Met893Arg)
 ClinVar dbSNP
1g.94001086A>GCA341277597ABCA4c.6302T>C (p.Met2101Thr)
c.2678T>C (p.Met893Thr)
1g.94001086A>TCA341277598ABCA4c.6302T>A (p.Met2101Lys)
c.2678T>A (p.Met893Lys)
1g.94001087T>ACA341277599ABCA4c.6301A>T (p.Met2101Leu)
c.2677A>T (p.Met893Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94001087T>CCA341277600ABCA4c.6301A>G (p.Met2101Val)
c.2677A>G (p.Met893Val)
 gnomAD v4
1g.94001087T>GCA341277601ABCA4c.6301A>C (p.Met2101Leu)
c.2677A>C (p.Met893Leu)
1g.94001087T=CA1181397799ABCA4c.6301A= (p.Met2101=)
c.2677A= (p.Met893=)
1g.94001087_94001088delinsTCCA1181397800ABCA4c.6300_6301delinsGA (p.Gly2100=)
c.2676_2677delinsGA (p.Gly892=)
1g.94001088C>ACA418811053ABCA4c.6300G>T (p.Gly2100=)
c.2676G>T (p.Gly892=)
1g.94001088C=CA1181397803ABCA4c.6300G= (p.Gly2100=)
c.2676G= (p.Gly892=)
1g.94001088C>GCA418811056ABCA4c.6300G>C (p.Gly2100=)
c.2676G>C (p.Gly892=)
 dbSNP gnomAD v2 gnomAD v4
1g.94001088C>TCA418811058ABCA4c.6300G>A (p.Gly2100=)
c.2676G>A (p.Gly892=)
1g.94001088_94001090delinsCCCCA1140725985ABCA4c.6298_6300delinsGGG (p.Gly2100=)
c.2674_2676delinsGGG (p.Gly892=)
1g.94001090delCA227387ABCA4c.6300del (p.Met2101TrpfsTer14)
c.2676del (p.Met893TrpfsTer14)
 ClinVar dbSNP
1g.94001089C>ACA341277602ABCA4c.6299G>T (p.Gly2100Val)
c.2675G>T (p.Gly892Val)
1g.94001089C>GCA341277603ABCA4c.6299G>C (p.Gly2100Ala)
c.2675G>C (p.Gly892Ala)
1g.94001089C>TCA341277604ABCA4c.6299G>A (p.Gly2100Glu)
c.2675G>A (p.Gly892Glu)
 ClinVar dbSNP COSMIC
1g.94001090C>ACA341277606ABCA4c.6298G>T (p.Gly2100Trp)
c.2674G>T (p.Gly892Trp)
 gnomAD v4
1g.94001090C>GCA341277607ABCA4c.6298G>C (p.Gly2100Arg)
c.2674G>C (p.Gly892Arg)
1g.94001090C>TCA341277605ABCA4c.6298G>A (p.Gly2100Arg)
c.2674G>A (p.Gly892Arg)
 COSMIC
1g.94001091T>ACA418811071ABCA4c.6297A>T (p.Thr2099=)
c.2673A>T (p.Thr891=)
1g.94001091T>CCA418811073ABCA4c.6297A>G (p.Thr2099=)
c.2673A>G (p.Thr891=)
1g.94001091T>GCA418811069ABCA4c.6297A>C (p.Thr2099=)
c.2673A>C (p.Thr891=)
 ClinVar
1g.94001092G>ACA341277609ABCA4c.6296C>T (p.Thr2099Ile)
c.2672C>T (p.Thr891Ile)
 dbSNP gnomAD v4
1g.94001092G>CCA341277608ABCA4c.6296C>G (p.Thr2099Arg)
c.2672C>G (p.Thr891Arg)
1g.94001092G=CA1181397809ABCA4c.6296C= (p.Thr2099=)
c.2672C= (p.Thr891=)
1g.94001092G>TCA341277610ABCA4c.6296C>A (p.Thr2099Lys)
c.2672C>A (p.Thr891Lys)
1g.94001093T>ACA341277611ABCA4c.6295A>T (p.Thr2099Ser)
c.2671A>T (p.Thr891Ser)
1g.94001093T>CCA341277613ABCA4c.6295A>G (p.Thr2099Ala)
c.2671A>G (p.Thr891Ala)
1g.94001093T>GCA341277612ABCA4c.6295A>C (p.Thr2099Pro)
c.2671A>C (p.Thr891Pro)
1g.94001093_94001111delinsTGGTGGGCTCATCCTGGGGCA1181397811ABCA4c.6283-6_6295delinsCCCCAGGATGAGCCCACCA
c.2659-6_2671delinsCCCCAGGATGAGCCCACCA
1g.94001094G>ACA418811082ABCA4c.6294C>T (p.Thr2098=)
c.2670C>T (p.Thr890=)
1g.94001094G>CCA418811084ABCA4c.6294C>G (p.Thr2098=)
c.2670C>G (p.Thr890=)
1g.94001094G>TCA418811085ABCA4c.6294C>A (p.Thr2098=)
c.2670C>A (p.Thr890=)
1g.94001096_94001111delCA2646644989ABCA4c.6283-4_6294del
c.2659-4_2670del
 gnomAD v4
1g.94001099_94001116delCA524697328ABCA4c.6283-6_6294del
c.2659-6_2670del
 dbSNP gnomAD v2 gnomAD v4
1g.94001095G>ACA341277614ABCA4c.6293C>T (p.Thr2098Ile)
c.2669C>T (p.Thr890Ile)
1g.94001095G>CCA341277615ABCA4c.6293C>G (p.Thr2098Ser)
c.2669C>G (p.Thr890Ser)
1g.94001095G>TCA341277616ABCA4c.6293C>A (p.Thr2098Asn)
c.2669C>A (p.Thr890Asn)
1g.94001096T>ACA341277617ABCA4c.6292A>T (p.Thr2098Ser)
c.2668A>T (p.Thr890Ser)
1g.94001096T>CCA341277618ABCA4c.6292A>G (p.Thr2098Ala)
c.2668A>G (p.Thr890Ala)
 ClinVar dbSNP
1g.94001096T>GCA341277619ABCA4c.6292A>C (p.Thr2098Pro)
c.2668A>C (p.Thr890Pro)
1g.94001097G>ACA418811095ABCA4c.6291C>T (p.Pro2097=)
c.2667C>T (p.Pro889=)
 dbSNP gnomAD v3 gnomAD v4
1g.94001097G>CCA418811094ABCA4c.6291C>G (p.Pro2097=)
c.2667C>G (p.Pro889=)
1g.94001097G=CA1181397813ABCA4c.6291C= (p.Pro2097=)
c.2667C= (p.Pro889=)
1g.94001097G>TCA418811092ABCA4c.6291C>A (p.Pro2097=)
c.2667C>A (p.Pro889=)
1g.94001098G>ACA341277621ABCA4c.6290C>T (p.Pro2097Leu)
c.2666C>T (p.Pro889Leu)
 ClinVar dbSNP
1g.94001098G>CCA956911ABCA4c.6290C>G (p.Pro2097Arg)
c.2666C>G (p.Pro889Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001098G=CA1148432111ABCA4c.6290C= (p.Pro2097=)
c.2666C= (p.Pro889=)
1g.94001098G>TCA341277620ABCA4c.6290C>A (p.Pro2097His)
c.2666C>A (p.Pro889His)
1g.94001099G>ACA341277622ABCA4c.6289C>T (p.Pro2097Ser)
c.2665C>T (p.Pro889Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94001099G>CCA341277623ABCA4c.6289C>G (p.Pro2097Ala)
c.2665C>G (p.Pro889Ala)
1g.94001099G=CA1181397815ABCA4c.6289C= (p.Pro2097=)
c.2665C= (p.Pro889=)
1g.94001099G>TCA341277624ABCA4c.6289C>A (p.Pro2097Thr)
c.2665C>A (p.Pro889Thr)
 ClinVar
1g.94001099_94001100insTGTGTTTGCA2744613978ABCA4c.6289_6290insAAACACAC (p.Pro2097GlnfsTer21)
c.2665_2666insAAACACAC (p.Pro889GlnfsTer21)
1g.94001100C>ACA341277625ABCA4c.6288G>T (p.Glu2096Asp)
c.2664G>T (p.Glu888Asp)
1g.94001100C>GCA341277626ABCA4c.6288G>C (p.Glu2096Asp)
c.2664G>C (p.Glu888Asp)
 ClinVar dbSNP
1g.94001100C>TCA418811105ABCA4c.6288G>A (p.Glu2096=)
c.2664G>A (p.Glu888=)
1g.94001101T>ACA341277629ABCA4c.6287A>T (p.Glu2096Val)
c.2663A>T (p.Glu888Val)
1g.94001101T>CCA341277627ABCA4c.6287A>G (p.Glu2096Gly)
c.2663A>G (p.Glu888Gly)
 ClinVar
1g.94001101T>GCA341277628ABCA4c.6287A>C (p.Glu2096Ala)
c.2663A>C (p.Glu888Ala)
1g.94001102C>ACA341277630ABCA4c.6286G>T (p.Glu2096Ter)
c.2662G>T (p.Glu888Ter)
1g.94001102C=CA1140725989ABCA4c.6286G= (p.Glu2096=)
c.2662G= (p.Glu888=)
1g.94001102C>GCA341277631ABCA4c.6286G>C (p.Glu2096Gln)
c.2662G>C (p.Glu888Gln)
1g.94001102C>TCA227386ABCA4c.6286G>A (p.Glu2096Lys)
c.2662G>A (p.Glu888Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001102_94001103delinsTGCA916082045ABCA4c.6285_6286delinsCA (p.Glu2096Lys)
c.2661_2662delinsCA (p.Glu888Lys)
 ClinVar
1g.94001103A=CA1139894819ABCA4c.6285T= (p.Asp2095=)
c.2661T= (p.Asp887=)
1g.94001103A>CCA341277632ABCA4c.6285T>G (p.Asp2095Glu)
c.2661T>G (p.Asp887Glu)
 gnomAD v4
1g.94001103A>GCA285825ABCA4c.6285T>C (p.Asp2095=)
c.2661T>C (p.Asp887=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001103A>TCA341277633ABCA4c.6285T>A (p.Asp2095Glu)
c.2661T>A (p.Asp887Glu)
1g.94001104T>ACA16617199ABCA4c.6284A>T (p.Asp2095Val)
c.2660A>T (p.Asp887Val)
 ClinVar dbSNP gnomAD v4
1g.94001104T>CCA341277634ABCA4c.6284A>G (p.Asp2095Gly)
c.2660A>G (p.Asp887Gly)
 dbSNP gnomAD v2
1g.94001104T>GCA341277635ABCA4c.6284A>C (p.Asp2095Ala)
c.2660A>C (p.Asp887Ala)
1g.94001104T=CA1181397828ABCA4c.6284A= (p.Asp2095=)
c.2660A= (p.Asp887=)
1g.94001105C>ACA341277636ABCA4c.6283G>T (p.Asp2095Tyr)
c.2659G>T (p.Asp887Tyr)
1g.94001105C>GCA341277637ABCA4c.6283G>C (p.Asp2095His)
c.2659G>C (p.Asp887His)
1g.94001105C>TCA341277638ABCA4c.6283G>A (p.Asp2095Asn)
c.2659G>A (p.Asp887Asn)
1g.94001106C>ACA341277639ABCA4c.6283-1G>T (n.6283-1G>T)
c.2659-1G>T (n.2659-1G>T)
1g.94001106C=CA1181397833ABCA4c.6283-1G= (n.6283-1G=)
c.2659-1G= (n.2659-1G=)
1g.94001106C>GCA341277641ABCA4c.6283-1G>C (n.6283-1G>C)
c.2659-1G>C (n.2659-1G>C)
 ClinVar dbSNP
1g.94001106C>TCA341277640ABCA4c.6283-1G>A (n.6283-1G>A)
c.2659-1G>A (n.2659-1G>A)
 dbSNP gnomAD v2 COSMIC
1g.94001107T>ACA341277642ABCA4c.6283-2A>T (n.6283-2A>T)
c.2659-2A>T (n.2659-2A>T)
1g.94001107T>CCA341277643ABCA4c.6283-2A>G (n.6283-2A>G)
c.2659-2A>G (n.2659-2A>G)
 gnomAD v4
1g.94001107T>GCA341277644ABCA4c.6283-2A>C (n.6283-2A>C)
c.2659-2A>C (n.2659-2A>C)
1g.94001107T=CA1181397835ABCA4c.6283-2A= (n.6283-2A=)
c.2659-2A= (n.2659-2A=)
1g.94001107_94001108delinsCTCA10602408ABCA4c.6283-3_6283-2delinsAG (n.6283-3_6283-2delinsAG)
c.2659-3_2659-2delinsAG (n.2659-3_2659-2delinsAG)
 ClinVar dbSNP
1g.94001107_94001108delinsTGCA1181397836ABCA4c.6283-3_6283-2delinsCA (n.6283-3_6283-2delinsCA)
c.2659-3_2659-2delinsCA (n.2659-3_2659-2delinsCA)
1g.94001108G>ACA524697329ABCA4c.6283-3C>T (n.6283-3C>T)
c.2659-3C>T (n.2659-3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94001108G>CCA2574437871ABCA4c.6283-3C>G (n.6283-3C>G)
c.2659-3C>G (n.2659-3C>G)
 gnomAD v4
1g.94001108G=CA1181397842ABCA4c.6283-3C= (n.6283-3C=)
c.2659-3C= (n.2659-3C=)
1g.94001108G>TCA26831828ABCA4c.6283-3C>A (n.6283-3C>A)
c.2659-3C>A (n.2659-3C>A)
 ClinVar dbSNP gnomAD v4
1g.94001108_94001113delinsGGGGGGCA1148293083ABCA4c.6283-8_6283-3delinsCCCCCC (n.6283-8_6283-3delinsCCCCCC)
c.2659-8_2659-3delinsCCCCCC (n.2659-8_2659-3delinsCCCCCC)
1g.94001113dupCA956912ABCA4c.6283-3dup (n.6283-3dup)
c.2659-3dup (n.2659-3dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001113delCA2646644990ABCA4c.6283-3del (n.6283-3del)
c.2659-3del (n.2659-3del)
 ClinVar gnomAD v4
1g.94001109G>ACA524697330ABCA4c.6283-4C>T (n.6283-4C>T)
c.2659-4C>T (n.2659-4C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94001109G>CCA956914ABCA4c.6283-4C>G (n.6283-4C>G)
c.2659-4C>G (n.2659-4C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001109G=CA1144008404ABCA4c.6283-4C= (n.6283-4C=)
c.2659-4C= (n.2659-4C=)
1g.94001109G>TCA956913ABCA4c.6283-4C>A (n.6283-4C>A)
c.2659-4C>A (n.2659-4C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001110G>CCA956915ABCA4c.6283-5C>G (n.6283-5C>G)
c.2659-5C>G (n.2659-5C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001110G=CA1181397851ABCA4c.6283-5C= (n.6283-5C=)
c.2659-5C= (n.2659-5C=)
1g.94001110G>TCA2646644991ABCA4c.6283-5C>A (n.6283-5C>A)
c.2659-5C>A (n.2659-5C>A)
 ClinVar gnomAD v4
1g.94001111G>ACA26831879ABCA4c.6283-6C>T (n.6283-6C>T)
c.2659-6C>T (n.2659-6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94001111G>CCA2574437872ABCA4c.6283-6C>G (n.6283-6C>G)
c.2659-6C>G (n.2659-6C>G)
 gnomAD v4
1g.94001111G=CA1181397852ABCA4c.6283-6C= (n.6283-6C=)
c.2659-6C= (n.2659-6C=)
1g.94001111G>TCA956916ABCA4c.6283-6C>A (n.6283-6C>A)
c.2659-6C>A (n.2659-6C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001112G>ACA2646644992ABCA4c.6283-7C>T (n.6283-7C>T)
c.2659-7C>T (n.2659-7C>T)
 gnomAD v4
1g.94001112G>CCA2696430509ABCA4c.6283-7C>G (n.6283-7C>G)
c.2659-7C>G (n.2659-7C>G)
 dbSNP
1g.94001112G=CA1144205938ABCA4c.6283-7C= (n.6283-7C=)
c.2659-7C= (n.2659-7C=)
1g.94001112G>TCA956917ABCA4c.6283-7C>A (n.6283-7C>A)
c.2659-7C>A (n.2659-7C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001113G>ACA956918ABCA4c.6283-8C>T (n.6283-8C>T)
c.2659-8C>T (n.2659-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94001113G=CA1143771281ABCA4c.6283-8C= (n.6283-8C=)
c.2659-8C= (n.2659-8C=)
1g.94001113G>TCA956919ABCA4c.6283-8C>A (n.6283-8C>A)
c.2659-8C>A (n.2659-8C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001114T>ACA2524205356ABCA4c.6283-9A>T (n.6283-9A>T)
c.2659-9A>T (n.2659-9A>T)
1g.94001114T>GCA1004543727ABCA4c.6283-9A>C (n.6283-9A>C)
c.2659-9A>C (n.2659-9A>C)
 dbSNP gnomAD v3 gnomAD v4
1g.94001114T=CA1181397859ABCA4c.6283-9A= (n.6283-9A=)
c.2659-9A= (n.2659-9A=)
1g.94001115G>TCA2574437873ABCA4c.6283-10C>A (n.6283-10C>A)
c.2659-10C>A (n.2659-10C>A)
1g.94001116G>TCA2646644993ABCA4c.6283-11C>A (n.6283-11C>A)
c.2659-11C>A (n.2659-11C>A)
 gnomAD v4
1g.94001117A=CA1181397861ABCA4c.6283-12T= (n.6283-12T=)
c.2659-12T= (n.2659-12T=)
1g.94001117A>CCA524697331ABCA4c.6283-12T>G (n.6283-12T>G)
c.2659-12T>G (n.2659-12T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94001117A>GCA2646644994ABCA4c.6283-12T>C (n.6283-12T>C)
c.2659-12T>C (n.2659-12T>C)
 gnomAD v4
1g.94001117_94001118insCACCCAACACCAAACACACCCAACACACA2744613979ABCA4c.6283-12_6283-11insGTGTTGGGTGTGTTTGGTGTTGGGTGT (n.6283-12_6283-11insGTGTTGGGTGTGTTTGGTGTTGGGTGT)
c.2659-12_2659-11insGTGTTGGGTGTGTTTGGTGTTGGGTGT (n.2659-12_2659-11insGTGTTGGGTGTGTTTGGTGTTGGGTGT)
1g.94001118G>CCA524697332ABCA4c.6283-13C>G (n.6283-13C>G)
c.2659-13C>G (n.2659-13C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94001118G=CA1181397862ABCA4c.6283-13C= (n.6283-13C=)
c.2659-13C= (n.2659-13C=)
1g.94001118G>TCA2574437874ABCA4c.6283-13C>A (n.6283-13C>A)
c.2659-13C>A (n.2659-13C>A)
 gnomAD v4
1g.94001119A>CCA2744613980ABCA4c.6283-14T>G (n.6283-14T>G)
c.2659-14T>G (n.2659-14T>G)
1g.94001121A=CA1181397864ABCA4c.6283-16T= (n.6283-16T=)
c.2659-16T= (n.2659-16T=)
1g.94001121A>GCA524697333ABCA4c.6283-16T>C (n.6283-16T>C)
c.2659-16T>C (n.2659-16T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94001123G>ACA1181397867ABCA4c.6283-18C>T (n.6283-18C>T)
c.2659-18C>T (n.2659-18C>T)
 dbSNP
1g.94001123G=CA1181397866ABCA4c.6283-18C= (n.6283-18C=)
c.2659-18C= (n.2659-18C=)
1g.94001123G>TCA2646644995ABCA4c.6283-18C>A (n.6283-18C>A)
c.2659-18C>A (n.2659-18C>A)
 gnomAD v4
1g.94001124G>TCA2646644996ABCA4c.6283-19C>A (n.6283-19C>A)
c.2659-19C>A (n.2659-19C>A)
 gnomAD v4
1g.94001125T>CCA1181397869ABCA4c.6283-20A>G (n.6283-20A>G)
c.2659-20A>G (n.2659-20A>G)
 dbSNP gnomAD v4
1g.94001125T=CA1181397868ABCA4c.6283-20A= (n.6283-20A=)
c.2659-20A= (n.2659-20A=)
1g.94001126T>GCA2646644997ABCA4c.6283-21A>C (n.6283-21A>C)
c.2659-21A>C (n.2659-21A>C)
 gnomAD v4
1g.94001127G>TCA2646644999ABCA4c.6283-22C>A (n.6283-22C>A)
c.2659-22C>A (n.2659-22C>A)
 gnomAD v4
1g.94001131delCA2646644998ABCA4c.6283-22del (n.6283-22del)
c.2659-22del (n.2659-22del)
 gnomAD v4
1g.94001128G>CCA26831904ABCA4c.6283-23C>G (n.6283-23C>G)
c.2659-23C>G (n.2659-23C>G)
 dbSNP
1g.94001128G=CA1181397871ABCA4c.6283-23C= (n.6283-23C=)
c.2659-23C= (n.2659-23C=)
1g.94001128G>TCA26831910ABCA4c.6283-23C>A (n.6283-23C>A)
c.2659-23C>A (n.2659-23C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.94001129G>ACA2646645000ABCA4c.6283-24C>T (n.6283-24C>T)
c.2659-24C>T (n.2659-24C>T)
 gnomAD v4
1g.94001129G>CCA740502874ABCA4c.6283-24C>G (n.6283-24C>G)
c.2659-24C>G (n.2659-24C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.94001129G=CA1181397874ABCA4c.6283-24C= (n.6283-24C=)
c.2659-24C= (n.2659-24C=)
1g.94001129G>TCA2646645001ABCA4c.6283-24C>A (n.6283-24C>A)
c.2659-24C>A (n.2659-24C>A)
 gnomAD v4
1g.94001130G>TCA2646645002ABCA4c.6283-25C>A (n.6283-25C>A)
c.2659-25C>A (n.2659-25C>A)
 gnomAD v4
1g.94001131G>ACA524697334ABCA4c.6283-26C>T (n.6283-26C>T)
c.2659-26C>T (n.2659-26C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94001131G=CA1181397877ABCA4c.6283-26C= (n.6283-26C=)
c.2659-26C= (n.2659-26C=)
1g.94001131G>TCA2574437875ABCA4c.6283-26C>A (n.6283-26C>A)
c.2659-26C>A (n.2659-26C>A)
 gnomAD v4
1g.94001131_94001132delCA2744613981ABCA4c.6283-27_6283-26del (n.6283-27_6283-26del)
c.2659-27_2659-26del (n.2659-27_2659-26del)
1g.94001132C>ACA2646645003ABCA4c.6283-27G>T (n.6283-27G>T)
c.2659-27G>T (n.2659-27G>T)
 gnomAD v4
1g.94001132C>TCA2646645004ABCA4c.6283-27G>A (n.6283-27G>A)
c.2659-27G>A (n.2659-27G>A)
 gnomAD v4
1g.94001134C>TCA2646645005ABCA4c.6283-29G>A (n.6283-29G>A)
c.2659-29G>A (n.2659-29G>A)
 gnomAD v4
1g.94001135A>GCA2646645006ABCA4c.6283-30T>C (n.6283-30T>C)
c.2659-30T>C (n.2659-30T>C)
 gnomAD v4
1g.94001136G>ACA2574437876ABCA4c.6283-31C>T (n.6283-31C>T)
c.2659-31C>T (n.2659-31C>T)
1g.94001136G>CCA2646645007ABCA4c.6283-31C>G (n.6283-31C>G)
c.2659-31C>G (n.2659-31C>G)
 gnomAD v4
1g.94001136G>TCA2646645008ABCA4c.6283-31C>A (n.6283-31C>A)
c.2659-31C>A (n.2659-31C>A)
 gnomAD v4
1g.94001137G>ACA524697335ABCA4c.6283-32C>T (n.6283-32C>T)
c.2659-32C>T (n.2659-32C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94001137G=CA1181397879ABCA4c.6283-32C= (n.6283-32C=)
c.2659-32C= (n.2659-32C=)
1g.94001137G>TCA2646645009ABCA4c.6283-32C>A (n.6283-32C>A)
c.2659-32C>A (n.2659-32C>A)
 gnomAD v4
1g.94001138C>ACA524697336ABCA4c.6283-33G>T (n.6283-33G>T)
c.2659-33G>T (n.2659-33G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94001138C=CA1181397880ABCA4c.6283-33G= (n.6283-33G=)
c.2659-33G= (n.2659-33G=)
1g.94001138C>TCA1181397881ABCA4c.6283-33G>A (n.6283-33G>A)
c.2659-33G>A (n.2659-33G>A)
 dbSNP gnomAD v4
1g.94001139T>ACA2646645010ABCA4c.6283-34A>T (n.6283-34A>T)
c.2659-34A>T (n.2659-34A>T)
 gnomAD v4
1g.94001139T>CCA26831912ABCA4c.6283-34A>G (n.6283-34A>G)
c.2659-34A>G (n.2659-34A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.94001139T=CA1144168409ABCA4c.6283-34A= (n.6283-34A=)
c.2659-34A= (n.2659-34A=)
1g.94001139_94001140delinsTGCA1181397885ABCA4c.6283-35_6283-34delinsCA (n.6283-35_6283-34delinsCA)
c.2659-35_2659-34delinsCA (n.2659-35_2659-34delinsCA)
1g.94001140G>ACA524697338ABCA4c.6283-35C>T (n.6283-35C>T)
c.2659-35C>T (n.2659-35C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94001140G=CA1181397887ABCA4c.6283-35C= (n.6283-35C=)
c.2659-35C= (n.2659-35C=)
1g.94001140G>TCA2646645011ABCA4c.6283-35C>A (n.6283-35C>A)
c.2659-35C>A (n.2659-35C>A)
 gnomAD v4
1g.94001142delCA524697337ABCA4c.6283-35del (n.6283-35del)
c.2659-35del (n.2659-35del)
 dbSNP gnomAD v2 gnomAD v4
1g.94001141_94001142delCA2744613982ABCA4c.6283-36_6283-35del (n.6283-36_6283-35del)
c.2659-36_2659-35del (n.2659-36_2659-35del)
1g.94001141G=CA1181397890ABCA4c.6283-36C= (n.6283-36C=)
c.2659-36C= (n.2659-36C=)
1g.94001141G>TCA956920ABCA4c.6283-36C>A (n.6283-36C>A)
c.2659-36C>A (n.2659-36C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94001143A=CA1181397891ABCA4c.6283-38T= (n.6283-38T=)
c.2659-38T= (n.2659-38T=)
1g.94001143A>GCA1181397892ABCA4c.6283-38T>C (n.6283-38T>C)
c.2659-38T>C (n.2659-38T>C)
 dbSNP
1g.94001144G>TCA2646645012ABCA4c.6283-39C>A (n.6283-39C>A)
c.2659-39C>A (n.2659-39C>A)
 gnomAD v4
1g.94001145C=CA1181397893ABCA4c.6283-40G= (n.6283-40G=)
c.2659-40G= (n.2659-40G=)
1g.94001145C>TCA524697339ABCA4c.6283-40G>A (n.6283-40G>A)
c.2659-40G>A (n.2659-40G>A)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched