Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94046988T>ACA341275423ABCA4c.2849A>T (p.Asn950Ile)
c.2627A>T (p.Asn876Ile)
c.-64-6899A>T (n.-64-6899A>T)
1g.94046988T>CCA341275424ABCA4c.2849A>G (p.Asn950Ser)
c.2627A>G (p.Asn876Ser)
c.-64-6899A>G (n.-64-6899A>G)
1g.94046988T>GCA341275425ABCA4c.2849A>C (p.Asn950Thr)
c.2627A>C (p.Asn876Thr)
c.-64-6899A>C (n.-64-6899A>C)
1g.94046989T>ACA341275426ABCA4c.2848A>T (p.Asn950Tyr)
c.2626A>T (p.Asn876Tyr)
c.-64-6900A>T (n.-64-6900A>T)
1g.94046989T>CCA341275427ABCA4c.2848A>G (p.Asn950Asp)
c.2626A>G (p.Asn876Asp)
c.-64-6900A>G (n.-64-6900A>G)
1g.94046989T>GCA341275428ABCA4c.2848A>C (p.Asn950His)
c.2626A>C (p.Asn876His)
c.-64-6900A>C (n.-64-6900A>C)
1g.94046990C>ACA418811727ABCA4c.2847G>T (p.Leu949=)
c.2625G>T (p.Leu875=)
c.-64-6901G>T (n.-64-6901G>T)
1g.94046990C>GCA418811745ABCA4c.2847G>C (p.Leu949=)
c.2625G>C (p.Leu875=)
c.-64-6901G>C (n.-64-6901G>C)
1g.94046990C>TCA418811737ABCA4c.2847G>A (p.Leu949=)
c.2625G>A (p.Leu875=)
c.-64-6901G>A (n.-64-6901G>A)
1g.94046991A>CCA341275429ABCA4c.2846T>G (p.Leu949Arg)
c.2624T>G (p.Leu875Arg)
c.-64-6902T>G (n.-64-6902T>G)
1g.94046991A>GCA341275430ABCA4c.2846T>C (p.Leu949Pro)
c.2624T>C (p.Leu875Pro)
c.-64-6902T>C (n.-64-6902T>C)
1g.94046991A>TCA341275431ABCA4c.2846T>A (p.Leu949Gln)
c.2624T>A (p.Leu875Gln)
c.-64-6902T>A (n.-64-6902T>A)
1g.94046992G>ACA418811755ABCA4c.2845C>T (p.Leu949=)
c.2623C>T (p.Leu875=)
c.-64-6903C>T (n.-64-6903C>T)
1g.94046992G>CCA341275432ABCA4c.2845C>G (p.Leu949Val)
c.2623C>G (p.Leu875Val)
c.-64-6903C>G (n.-64-6903C>G)
1g.94046992G>TCA341275433ABCA4c.2845C>A (p.Leu949Met)
c.2623C>A (p.Leu875Met)
c.-64-6903C>A (n.-64-6903C>A)
1g.94046993A>CCA418811767ABCA4c.2844T>G (p.Arg948=)
c.2622T>G (p.Arg874=)
c.-64-6904T>G (n.-64-6904T>G)
1g.94046993A>GCA418811769ABCA4c.2844T>C (p.Arg948=)
c.2622T>C (p.Arg874=)
c.-64-6904T>C (n.-64-6904T>C)
1g.94046993A>TCA418811772ABCA4c.2844T>A (p.Arg948=)
c.2622T>A (p.Arg874=)
c.-64-6904T>A (n.-64-6904T>A)
1g.94046994C>ACA341275435ABCA4c.2843G>T (p.Arg948Leu)
c.2621G>T (p.Arg874Leu)
c.-64-6905G>T (n.-64-6905G>T)
1g.94046994C=CA1142247066ABCA4c.2843G= (p.Arg948=)
c.2621G= (p.Arg874=)
c.-64-6905G= (n.-64-6905G=)
1g.94046994C>GCA341275434ABCA4c.2843G>C (p.Arg948Pro)
c.2621G>C (p.Arg874Pro)
c.-64-6905G>C (n.-64-6905G>C)
1g.94046994C>TCA958138ABCA4c.2843G>A (p.Arg948His)
c.2621G>A (p.Arg874His)
c.-64-6905G>A (n.-64-6905G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94046995G>ACA958139ABCA4c.2842C>T (p.Arg948Cys)
c.2620C>T (p.Arg874Cys)
c.-64-6906C>T (n.-64-6906C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94046995G>CCA958140ABCA4c.2842C>G (p.Arg948Gly)
c.2620C>G (p.Arg874Gly)
c.-64-6906C>G (n.-64-6906C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94046995G=CA1181422613ABCA4c.2842C= (p.Arg948=)
c.2620C= (p.Arg874=)
c.-64-6906C= (n.-64-6906C=)
1g.94046995G>TCA341275436ABCA4c.2842C>A (p.Arg948Ser)
c.2620C>A (p.Arg874Ser)
c.-64-6906C>A (n.-64-6906C>A)
 COSMIC COSMIC
1g.94046996G>ACA958141ABCA4c.2841C>T (p.Asp947=)
c.2619C>T (p.Asp873=)
c.-64-6907C>T (n.-64-6907C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94046996G>CCA341275437ABCA4c.2841C>G (p.Asp947Glu)
c.2619C>G (p.Asp873Glu)
c.-64-6907C>G (n.-64-6907C>G)
1g.94046996G=CA1143424487ABCA4c.2841C= (p.Asp947=)
c.2619C= (p.Asp873=)
c.-64-6907C= (n.-64-6907C=)
1g.94046996G>TCA341275438ABCA4c.2841C>A (p.Asp947Glu)
c.2619C>A (p.Asp873Glu)
c.-64-6907C>A (n.-64-6907C>A)
1g.94046997T>ACA341275439ABCA4c.2840A>T (p.Asp947Val)
c.2618A>T (p.Asp873Val)
c.-64-6908A>T (n.-64-6908A>T)
1g.94046997T>CCA341275440ABCA4c.2840A>G (p.Asp947Gly)
c.2618A>G (p.Asp873Gly)
c.-64-6908A>G (n.-64-6908A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94046997T>GCA341275441ABCA4c.2840A>C (p.Asp947Ala)
c.2618A>C (p.Asp873Ala)
c.-64-6908A>C (n.-64-6908A>C)
1g.94046997T=CA1181422614ABCA4c.2840A= (p.Asp947=)
c.2618A= (p.Asp873=)
c.-64-6908A= (n.-64-6908A=)
1g.94046998C>ACA341275442ABCA4c.2839G>T (p.Asp947Tyr)
c.2617G>T (p.Asp873Tyr)
c.-64-6909G>T (n.-64-6909G>T)
1g.94046998C=CA1181422615ABCA4c.2839G= (p.Asp947=)
c.2617G= (p.Asp873=)
c.-64-6909G= (n.-64-6909G=)
1g.94046998C>GCA341275443ABCA4c.2839G>C (p.Asp947His)
c.2617G>C (p.Asp873His)
c.-64-6909G>C (n.-64-6909G>C)
1g.94046998C>TCA341275444ABCA4c.2839G>A (p.Asp947Asn)
c.2617G>A (p.Asp873Asn)
c.-64-6909G>A (n.-64-6909G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94046999C>ACA418811819ABCA4c.2838G>T (p.Val946=)
c.2616G>T (p.Val872=)
c.-64-6910G>T (n.-64-6910G>T)
1g.94046999C>GCA418811821ABCA4c.2838G>C (p.Val946=)
c.2616G>C (p.Val872=)
c.-64-6910G>C (n.-64-6910G>C)
 gnomAD v4
1g.94046999C>TCA418811825ABCA4c.2838G>A (p.Val946=)
c.2616G>A (p.Val872=)
c.-64-6910G>A (n.-64-6910G>A)
1g.94047000A>CCA341275447ABCA4c.2837T>G (p.Val946Gly)
c.2615T>G (p.Val872Gly)
c.-64-6911T>G (n.-64-6911T>G)
1g.94047000A>GCA341275446ABCA4c.2837T>C (p.Val946Ala)
c.2615T>C (p.Val872Ala)
c.-64-6911T>C (n.-64-6911T>C)
1g.94047000A>TCA341275445ABCA4c.2837T>A (p.Val946Glu)
c.2615T>A (p.Val872Glu)
c.-64-6911T>A (n.-64-6911T>A)
1g.94047001C>ACA341275448ABCA4c.2836G>T (p.Val946Leu)
c.2614G>T (p.Val872Leu)
c.-64-6912G>T (n.-64-6912G>T)
1g.94047001C>GCA341275450ABCA4c.2836G>C (p.Val946Leu)
c.2614G>C (p.Val872Leu)
c.-64-6912G>C (n.-64-6912G>C)
1g.94047001C>TCA341275449ABCA4c.2836G>A (p.Val946Met)
c.2614G>A (p.Val872Met)
c.-64-6912G>A (n.-64-6912G>A)
1g.94047002A>CCA418811844ABCA4c.2835T>G (p.Ala945=)
c.2613T>G (p.Ala871=)
c.-64-6913T>G (n.-64-6913T>G)
1g.94047002A>GCA418811847ABCA4c.2835T>C (p.Ala945=)
c.2613T>C (p.Ala871=)
c.-64-6913T>C (n.-64-6913T>C)
1g.94047002A>TCA418811850ABCA4c.2835T>A (p.Ala945=)
c.2613T>A (p.Ala871=)
c.-64-6913T>A (n.-64-6913T>A)
1g.94047003G>ACA341275451ABCA4c.2834C>T (p.Ala945Val)
c.2612C>T (p.Ala871Val)
c.-64-6914C>T (n.-64-6914C>T)
1g.94047003G>CCA341275452ABCA4c.2834C>G (p.Ala945Gly)
c.2612C>G (p.Ala871Gly)
c.-64-6914C>G (n.-64-6914C>G)
1g.94047003G>TCA341275453ABCA4c.2834C>A (p.Ala945Asp)
c.2612C>A (p.Ala871Asp)
c.-64-6914C>A (n.-64-6914C>A)
1g.94047004C>ACA26840843ABCA4c.2833G>T (p.Ala945Ser)
c.2611G>T (p.Ala871Ser)
c.-64-6915G>T (n.-64-6915G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94047004C=CA1142375189ABCA4c.2833G= (p.Ala945=)
c.2611G= (p.Ala871=)
c.-64-6915G= (n.-64-6915G=)
1g.94047004C>GCA341275454ABCA4c.2833G>C (p.Ala945Pro)
c.2611G>C (p.Ala871Pro)
c.-64-6915G>C (n.-64-6915G>C)
1g.94047004C>TCA341275455ABCA4c.2833G>A (p.Ala945Thr)
c.2611G>A (p.Ala871Thr)
c.-64-6915G>A (n.-64-6915G>A)
 ClinVar
1g.94047005T>ACA418811859ABCA4c.2832A>T (p.Pro944=)
c.2610A>T (p.Pro870=)
c.-64-6916A>T (n.-64-6916A>T)
1g.94047005T>CCA958142ABCA4c.2832A>G (p.Pro944=)
c.2610A>G (p.Pro870=)
c.-64-6916A>G (n.-64-6916A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94047005T>GCA418811860ABCA4c.2832A>C (p.Pro944=)
c.2610A>C (p.Pro870=)
c.-64-6916A>C (n.-64-6916A>C)
1g.94047005T=CA1148247380ABCA4c.2832A= (p.Pro944=)
c.2610A= (p.Pro870=)
c.-64-6916A= (n.-64-6916A=)
1g.94047006G>ACA341275456ABCA4c.2831C>T (p.Pro944Leu)
c.2609C>T (p.Pro870Leu)
c.-64-6917C>T (n.-64-6917C>T)
 gnomAD v4 COSMIC COSMIC
1g.94047006G>CCA341275457ABCA4c.2831C>G (p.Pro944Arg)
c.2609C>G (p.Pro870Arg)
c.-64-6917C>G (n.-64-6917C>G)
1g.94047006G>TCA341275458ABCA4c.2831C>A (p.Pro944Gln)
c.2609C>A (p.Pro870Gln)
c.-64-6917C>A (n.-64-6917C>A)
1g.94047007G>ACA341275459ABCA4c.2830C>T (p.Pro944Ser)
c.2608C>T (p.Pro870Ser)
c.-64-6918C>T (n.-64-6918C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.94047007G>CCA341275460ABCA4c.2830C>G (p.Pro944Ala)
c.2608C>G (p.Pro870Ala)
c.-64-6918C>G (n.-64-6918C>G)
1g.94047007G=CA1181422616ABCA4c.2830C= (p.Pro944=)
c.2608C= (p.Pro870=)
c.-64-6918C= (n.-64-6918C=)
1g.94047007G>TCA341275461ABCA4c.2830C>A (p.Pro944Thr)
c.2608C>A (p.Pro870Thr)
c.-64-6918C>A (n.-64-6918C>A)
1g.94047007_94047008delinsGCCA1181422617ABCA4c.2829_2830delinsGC (p.Arg943=)
c.2607_2608delinsGC (p.Arg869=)
c.-64-6919_-64-6918delinsGC (n.-64-6919_-64-6918delinsGC)
1g.94047008C>ACA418811878ABCA4c.2829G>T (p.Arg943=)
c.2607G>T (p.Arg869=)
c.-64-6919G>T (n.-64-6919G>T)
1g.94047008C=CA1181422618ABCA4c.2829G= (p.Arg943=)
c.2607G= (p.Arg869=)
c.-64-6919G= (n.-64-6919G=)
1g.94047008C>GCA418811880ABCA4c.2829G>C (p.Arg943=)
c.2607G>C (p.Arg869=)
c.-64-6919G>C (n.-64-6919G>C)
1g.94047008C>TCA418811883ABCA4c.2829G>A (p.Arg943=)
c.2607G>A (p.Arg869=)
c.-64-6919G>A (n.-64-6919G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.94047009delCA645372184ABCA4c.2829del (p.Pro944GlnfsTer6)
c.2607del (p.Pro870GlnfsTer6)
c.-64-6919del (n.-64-6919del)
 ClinVar dbSNP
1g.94047009C>ACA958143ABCA4c.2828G>T (p.Arg943Leu)
c.2606G>T (p.Arg869Leu)
c.-64-6920G>T (n.-64-6920G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047009C=CA1139894810ABCA4c.2828G= (p.Arg943=)
c.2606G= (p.Arg869=)
c.-64-6920G= (n.-64-6920G=)
1g.94047009C>GCA341275462ABCA4c.2828G>C (p.Arg943Pro)
c.2606G>C (p.Arg869Pro)
c.-64-6920G>C (n.-64-6920G>C)
1g.94047009C>TCA119146ABCA4c.2828G>A (p.Arg943Gln)
c.2606G>A (p.Arg869Gln)
c.-64-6920G>A (n.-64-6920G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047009_94047010delinsCGCA1181422619ABCA4c.2827_2828delinsCG (p.Arg943=)
c.2605_2606delinsCG (p.Arg869=)
c.-64-6921_-64-6920delinsCG (n.-64-6921_-64-6920delinsCG)
1g.94047010G>ACA227037ABCA4c.2827C>T (p.Arg943Trp)
c.2605C>T (p.Arg869Trp)
c.-64-6921C>T (n.-64-6921C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94047010G>CCA227035ABCA4c.2827C>G (p.Arg943Gly)
c.2605C>G (p.Arg869Gly)
c.-64-6921C>G (n.-64-6921C>G)
 ClinVar dbSNP gnomAD v4
1g.94047010G=CA1140725914ABCA4c.2827C= (p.Arg943=)
c.2605C= (p.Arg869=)
c.-64-6921C= (n.-64-6921C=)
1g.94047010G>TCA418811900ABCA4c.2827C>A (p.Arg943=)
c.2605C>A (p.Arg869=)
c.-64-6921C>A (n.-64-6921C>A)
1g.94047010_94047011delinsGGCA1143538163ABCA4c.2826_2827delinsCC (p.Gly942=)
c.2604_2605delinsCC (p.Gly868=)
c.-64-6922_-64-6921delinsCC (n.-64-6922_-64-6921delinsCC)
1g.94047011delCA227038ABCA4c.2827del (p.Arg943GlyfsTer7)
c.2605del (p.Arg869GlyfsTer7)
c.-64-6921del (n.-64-6921del)
 ClinVar dbSNP
1g.94047011G>ACA418811907ABCA4c.2826C>T (p.Gly942=)
c.2604C>T (p.Gly868=)
c.-64-6922C>T (n.-64-6922C>T)
1g.94047011G>CCA418811912ABCA4c.2826C>G (p.Gly942=)
c.2604C>G (p.Gly868=)
c.-64-6922C>G (n.-64-6922C>G)
1g.94047011G=CA1181422620ABCA4c.2826C= (p.Gly942=)
c.2604C= (p.Gly868=)
c.-64-6922C= (n.-64-6922C=)
1g.94047011G>TCA418811913ABCA4c.2826C>A (p.Gly942=)
c.2604C>A (p.Gly868=)
c.-64-6922C>A (n.-64-6922C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.94047012C>ACA341275463ABCA4c.2825G>T (p.Gly942Val)
c.2603G>T (p.Gly868Val)
c.-64-6923G>T (n.-64-6923G>T)
 ClinVar dbSNP
1g.94047012C=CA1181422621ABCA4c.2825G= (p.Gly942=)
c.2603G= (p.Gly868=)
c.-64-6923G= (n.-64-6923G=)
1g.94047012C>GCA341275464ABCA4c.2825G>C (p.Gly942Ala)
c.2603G>C (p.Gly868Ala)
c.-64-6923G>C (n.-64-6923G>C)
1g.94047012C>TCA341275465ABCA4c.2825G>A (p.Gly942Asp)
c.2603G>A (p.Gly868Asp)
c.-64-6923G>A (n.-64-6923G>A)
1g.94047013C>ACA341275466ABCA4c.2824G>T (p.Gly942Cys)
c.2602G>T (p.Gly868Cys)
c.-64-6924G>T (n.-64-6924G>T)
1g.94047013C=CA1181422622ABCA4c.2824G= (p.Gly942=)
c.2602G= (p.Gly868=)
c.-64-6924G= (n.-64-6924G=)
1g.94047013C>GCA958144ABCA4c.2824G>C (p.Gly942Arg)
c.2602G>C (p.Gly868Arg)
c.-64-6924G>C (n.-64-6924G>C)
 dbSNP ExAC
1g.94047013C>TCA341275467ABCA4c.2824G>A (p.Gly942Ser)
c.2602G>A (p.Gly868Ser)
c.-64-6924G>A (n.-64-6924G>A)
1g.94047014A>CCA341275468ABCA4c.2823T>G (p.Cys941Trp)
c.2601T>G (p.Cys867Trp)
c.-64-6925T>G (n.-64-6925T>G)
1g.94047014A>GCA418811928ABCA4c.2823T>C (p.Cys941=)
c.2601T>C (p.Cys867=)
c.-64-6925T>C (n.-64-6925T>C)
1g.94047014A>TCA341275469ABCA4c.2823T>A (p.Cys941Ter)
c.2601T>A (p.Cys867Ter)
c.-64-6925T>A (n.-64-6925T>A)
 ClinVar
1g.94047015C>ACA958145ABCA4c.2822G>T (p.Cys941Phe)
c.2600G>T (p.Cys867Phe)
c.-64-6926G>T (n.-64-6926G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94047015C=CA1141341351ABCA4c.2822G= (p.Cys941=)
c.2600G= (p.Cys867=)
c.-64-6926G= (n.-64-6926G=)
1g.94047015C>GCA341275470ABCA4c.2822G>C (p.Cys941Ser)
c.2600G>C (p.Cys867Ser)
c.-64-6926G>C (n.-64-6926G>C)
1g.94047015C>TCA26840863ABCA4c.2822G>A (p.Cys941Tyr)
c.2600G>A (p.Cys867Tyr)
c.-64-6926G>A (n.-64-6926G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94047016A>CCA341275473ABCA4c.2821T>G (p.Cys941Gly)
c.2599T>G (p.Cys867Gly)
c.-64-6927T>G (n.-64-6927T>G)
1g.94047016A>GCA341275471ABCA4c.2821T>C (p.Cys941Arg)
c.2599T>C (p.Cys867Arg)
c.-64-6927T>C (n.-64-6927T>C)
 gnomAD v4
1g.94047016A>TCA341275472ABCA4c.2821T>A (p.Cys941Ser)
c.2599T>A (p.Cys867Ser)
c.-64-6927T>A (n.-64-6927T>A)
1g.94047017G>ACA418811955ABCA4c.2820C>T (p.Pro940=)
c.2598C>T (p.Pro866=)
c.-64-6928C>T (n.-64-6928C>T)
1g.94047017G>CCA227033ABCA4c.2820C>G (p.Pro940=)
c.2598C>G (p.Pro866=)
c.-64-6928C>G (n.-64-6928C>G)
 ClinVar dbSNP
1g.94047017G=CA1140725916ABCA4c.2820C= (p.Pro940=)
c.2598C= (p.Pro866=)
c.-64-6928C= (n.-64-6928C=)
1g.94047017G>TCA418811964ABCA4c.2820C>A (p.Pro940=)
c.2598C>A (p.Pro866=)
c.-64-6928C>A (n.-64-6928C>A)
1g.94047019delCA2739272676ABCA4c.2820del (p.Cys941ValfsTer9)
c.2598del (p.Cys867ValfsTer9)
c.-64-6928del (n.-64-6928del)
 ClinVar
1g.94047018G>ACA341275474ABCA4c.2819C>T (p.Pro940Leu)
c.2597C>T (p.Pro866Leu)
c.-64-6929C>T (n.-64-6929C>T)
 gnomAD v4
1g.94047018G>CCA958146ABCA4c.2819C>G (p.Pro940Arg)
c.2597C>G (p.Pro866Arg)
c.-64-6929C>G (n.-64-6929C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047018G=CA1142025597ABCA4c.2819C= (p.Pro940=)
c.2597C= (p.Pro866=)
c.-64-6929C= (n.-64-6929C=)
1g.94047018G>TCA341275475ABCA4c.2819C>A (p.Pro940His)
c.2597C>A (p.Pro866His)
c.-64-6929C>A (n.-64-6929C>A)
1g.94047019G>ACA958147ABCA4c.2818C>T (p.Pro940Ser)
c.2596C>T (p.Pro866Ser)
c.-64-6930C>T (n.-64-6930C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94047019G>CCA341275476ABCA4c.2818C>G (p.Pro940Ala)
c.2596C>G (p.Pro866Ala)
c.-64-6930C>G (n.-64-6930C>G)
 gnomAD v4
1g.94047019G=CA1181422623ABCA4c.2818C= (p.Pro940=)
c.2596C= (p.Pro866=)
c.-64-6930C= (n.-64-6930C=)
1g.94047019G>TCA341275477ABCA4c.2818C>A (p.Pro940Thr)
c.2596C>A (p.Pro866Thr)
c.-64-6930C>A (n.-64-6930C>A)
 gnomAD v4
1g.94047020C>ACA341275478ABCA4c.2817G>T (p.Glu939Asp)
c.2595G>T (p.Glu865Asp)
c.-64-6931G>T (n.-64-6931G>T)
1g.94047020C=CA1181422624ABCA4c.2817G= (p.Glu939=)
c.2595G= (p.Glu865=)
c.-64-6931G= (n.-64-6931G=)
1g.94047020C>GCA341275479ABCA4c.2817G>C (p.Glu939Asp)
c.2595G>C (p.Glu865Asp)
c.-64-6931G>C (n.-64-6931G>C)
1g.94047020C>TCA418811987ABCA4c.2817G>A (p.Glu939=)
c.2595G>A (p.Glu865=)
c.-64-6931G>A (n.-64-6931G>A)
 ClinVar dbSNP
1g.94047021T>ACA341275480ABCA4c.2816A>T (p.Glu939Val)
c.2594A>T (p.Glu865Val)
c.-64-6932A>T (n.-64-6932A>T)
1g.94047021T>CCA341275481ABCA4c.2816A>G (p.Glu939Gly)
c.2594A>G (p.Glu865Gly)
c.-64-6932A>G (n.-64-6932A>G)
1g.94047021T>GCA341275482ABCA4c.2816A>C (p.Glu939Ala)
c.2594A>C (p.Glu865Ala)
c.-64-6932A>C (n.-64-6932A>C)
1g.94047022C>ACA235750ABCA4c.2815G>T (p.Glu939Ter)
c.2593G>T (p.Glu865Ter)
c.-64-6933G>T (n.-64-6933G>T)
 ClinVar dbSNP
1g.94047022C=CA1181422625ABCA4c.2815G= (p.Glu939=)
c.2593G= (p.Glu865=)
c.-64-6933G= (n.-64-6933G=)
1g.94047022C>GCA341275484ABCA4c.2815G>C (p.Glu939Gln)
c.2593G>C (p.Glu865Gln)
c.-64-6933G>C (n.-64-6933G>C)
 ClinVar
1g.94047022C>TCA341275483ABCA4c.2815G>A (p.Glu939Lys)
c.2593G>A (p.Glu865Lys)
c.-64-6933G>A (n.-64-6933G>A)
 COSMIC COSMIC
1g.94047023A>CCA341275485ABCA4c.2814T>G (p.Phe938Leu)
c.2592T>G (p.Phe864Leu)
c.-64-6934T>G (n.-64-6934T>G)
1g.94047023A>GCA418812010ABCA4c.2814T>C (p.Phe938=)
c.2592T>C (p.Phe864=)
c.-64-6934T>C (n.-64-6934T>C)
1g.94047023A>TCA341275486ABCA4c.2814T>A (p.Phe938Leu)
c.2592T>A (p.Phe864Leu)
c.-64-6934T>A (n.-64-6934T>A)
1g.94047024A=CA1142279874ABCA4c.2813T= (p.Phe938=)
c.2591T= (p.Phe864=)
c.-64-6935T= (n.-64-6935T=)
1g.94047024A>CCA341275487ABCA4c.2813T>G (p.Phe938Cys)
c.2591T>G (p.Phe864Cys)
c.-64-6935T>G (n.-64-6935T>G)
1g.94047024A>GCA958148ABCA4c.2813T>C (p.Phe938Ser)
c.2591T>C (p.Phe864Ser)
c.-64-6935T>C (n.-64-6935T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047024A>TCA341275488ABCA4c.2813T>A (p.Phe938Tyr)
c.2591T>A (p.Phe864Tyr)
c.-64-6935T>A (n.-64-6935T>A)
1g.94047025A>CCA341275489ABCA4c.2812T>G (p.Phe938Val)
c.2590T>G (p.Phe864Val)
c.-64-6936T>G (n.-64-6936T>G)
1g.94047025A>GCA341275490ABCA4c.2812T>C (p.Phe938Leu)
c.2590T>C (p.Phe864Leu)
c.-64-6936T>C (n.-64-6936T>C)
1g.94047025A>TCA341275491ABCA4c.2812T>A (p.Phe938Ile)
c.2590T>A (p.Phe864Ile)
c.-64-6936T>A (n.-64-6936T>A)
1g.94047026A=CA1181422626ABCA4c.2811T= (p.Ile937=)
c.2589T= (p.Ile863=)
c.-64-6937T= (n.-64-6937T=)
1g.94047026A>CCA341275492ABCA4c.2811T>G (p.Ile937Met)
c.2589T>G (p.Ile863Met)
c.-64-6937T>G (n.-64-6937T>G)
1g.94047026A>GCA418812035ABCA4c.2811T>C (p.Ile937=)
c.2589T>C (p.Ile863=)
c.-64-6937T>C (n.-64-6937T>C)
1g.94047026A>TCA418812033ABCA4c.2811T>A (p.Ile937=)
c.2589T>A (p.Ile863=)
c.-64-6937T>A (n.-64-6937T>A)
 dbSNP
1g.94047027A=CA1181422627ABCA4c.2810T= (p.Ile937=)
c.2588T= (p.Ile863=)
c.-64-6938T= (n.-64-6938T=)
1g.94047027A>CCA341275493ABCA4c.2810T>G (p.Ile937Ser)
c.2588T>G (p.Ile863Ser)
c.-64-6938T>G (n.-64-6938T>G)
1g.94047027A>GCA341275494ABCA4c.2810T>C (p.Ile937Thr)
c.2588T>C (p.Ile863Thr)
c.-64-6938T>C (n.-64-6938T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.94047027A>TCA341275495ABCA4c.2810T>A (p.Ile937Asn)
c.2588T>A (p.Ile863Asn)
c.-64-6938T>A (n.-64-6938T>A)
 gnomAD v4
1g.94047028T>ACA341275497ABCA4c.2809A>T (p.Ile937Phe)
c.2587A>T (p.Ile863Phe)
c.-64-6939A>T (n.-64-6939A>T)
1g.94047028T>CCA341275498ABCA4c.2809A>G (p.Ile937Val)
c.2587A>G (p.Ile863Val)
c.-64-6939A>G (n.-64-6939A>G)
1g.94047028T>GCA341275496ABCA4c.2809A>C (p.Ile937Leu)
c.2587A>C (p.Ile863Leu)
c.-64-6939A>C (n.-64-6939A>C)
1g.94047029C>ACA341275499ABCA4c.2808G>T (p.Lys936Asn)
c.2586G>T (p.Lys862Asn)
c.-64-6940G>T (n.-64-6940G>T)
1g.94047029C=CA1181422628ABCA4c.2808G= (p.Lys936=)
c.2586G= (p.Lys862=)
c.-64-6940G= (n.-64-6940G=)
1g.94047029C>GCA341275500ABCA4c.2808G>C (p.Lys936Asn)
c.2586G>C (p.Lys862Asn)
c.-64-6940G>C (n.-64-6940G>C)
 ClinVar dbSNP
1g.94047029C>TCA418812061ABCA4c.2808G>A (p.Lys936=)
c.2586G>A (p.Lys862=)
c.-64-6940G>A (n.-64-6940G>A)
1g.94047030T>ACA341275501ABCA4c.2807A>T (p.Lys936Met)
c.2585A>T (p.Lys862Met)
c.-64-6941A>T (n.-64-6941A>T)
1g.94047030T>CCA341275502ABCA4c.2807A>G (p.Lys936Arg)
c.2585A>G (p.Lys862Arg)
c.-64-6941A>G (n.-64-6941A>G)
1g.94047030T>GCA341275503ABCA4c.2807A>C (p.Lys936Thr)
c.2585A>C (p.Lys862Thr)
c.-64-6941A>C (n.-64-6941A>C)
 gnomAD v4
1g.94047032delCA2573132718ABCA4c.2807del (p.Lys936ArgfsTer14)
c.2585del (p.Lys862ArgfsTer14)
c.-64-6941del (n.-64-6941del)
 ClinVar dbSNP
1g.94047031T>ACA341275506ABCA4c.2806A>T (p.Lys936Ter)
c.2584A>T (p.Lys862Ter)
c.-64-6942A>T (n.-64-6942A>T)
1g.94047031T>CCA341275505ABCA4c.2806A>G (p.Lys936Glu)
c.2584A>G (p.Lys862Glu)
c.-64-6942A>G (n.-64-6942A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.94047031T>GCA341275504ABCA4c.2806A>C (p.Lys936Gln)
c.2584A>C (p.Lys862Gln)
c.-64-6942A>C (n.-64-6942A>C)
1g.94047031T=CA1181422629ABCA4c.2806A= (p.Lys936=)
c.2584A= (p.Lys862=)
c.-64-6942A= (n.-64-6942A=)
1g.94047032T>ACA418812086ABCA4c.2805A>T (p.Val935=)
c.2583A>T (p.Val861=)
c.-64-6943A>T (n.-64-6943A>T)
1g.94047032T>CCA418812091ABCA4c.2805A>G (p.Val935=)
c.2583A>G (p.Val861=)
c.-64-6943A>G (n.-64-6943A>G)
 ClinVar gnomAD v4 COSMIC COSMIC
1g.94047032T>GCA418812089ABCA4c.2805A>C (p.Val935=)
c.2583A>C (p.Val861=)
c.-64-6943A>C (n.-64-6943A>C)
1g.94047033A=CA1140725918ABCA4c.2804T= (p.Val935=)
c.2582T= (p.Val861=)
c.-64-6944T= (n.-64-6944T=)
1g.94047033A>CCA341275507ABCA4c.2804T>G (p.Val935Gly)
c.2582T>G (p.Val861Gly)
c.-64-6944T>G (n.-64-6944T>G)
1g.94047033A>GCA227032ABCA4c.2804T>C (p.Val935Ala)
c.2582T>C (p.Val861Ala)
c.-64-6944T>C (n.-64-6944T>C)
 ClinVar dbSNP ExAC gnomAD v2
1g.94047033A>TCA341275508ABCA4c.2804T>A (p.Val935Glu)
c.2582T>A (p.Val861Glu)
c.-64-6944T>A (n.-64-6944T>A)
1g.94047034C>ACA341275509ABCA4c.2803G>T (p.Val935Leu)
c.2581G>T (p.Val861Leu)
c.-64-6945G>T (n.-64-6945G>T)
1g.94047034C=CA1181422630ABCA4c.2803G= (p.Val935=)
c.2581G= (p.Val861=)
c.-64-6945G= (n.-64-6945G=)
1g.94047034C>GCA341275510ABCA4c.2803G>C (p.Val935Leu)
c.2581G>C (p.Val861Leu)
c.-64-6945G>C (n.-64-6945G>C)
1g.94047034C>TCA958149ABCA4c.2803G>A (p.Val935Ile)
c.2581G>A (p.Val861Ile)
c.-64-6945G>A (n.-64-6945G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047034_94047035delCA2646650145ABCA4c.2802_2803del (p.Val935LysfsTer4)
c.2580_2581del (p.Val861LysfsTer4)
c.-64-6946_-64-6945del (n.-64-6946_-64-6945del)
 gnomAD v4
1g.94047034_94047037delinsACA2586966886ABCA4c.2800_2803delinsT (p.Val935del)
c.2578_2581delinsT (p.Val861del)
c.-64-6948_-64-6945delinsT (n.-64-6948_-64-6945delinsT)
1g.94047035C>ACA418812104ABCA4c.2802G>T (p.Leu934=)
c.2580G>T (p.Leu860=)
c.-64-6946G>T (n.-64-6946G>T)
1g.94047035C=CA1181422631ABCA4c.2802G= (p.Leu934=)
c.2580G= (p.Leu860=)
c.-64-6946G= (n.-64-6946G=)
1g.94047035C>GCA418812106ABCA4c.2802G>C (p.Leu934=)
c.2580G>C (p.Leu860=)
c.-64-6946G>C (n.-64-6946G>C)
 ClinVar
1g.94047035C>TCA418812109ABCA4c.2802G>A (p.Leu934=)
c.2580G>A (p.Leu860=)
c.-64-6946G>A (n.-64-6946G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.94047036A>CCA341275513ABCA4c.2801T>G (p.Leu934Arg)
c.2579T>G (p.Leu860Arg)
c.-64-6947T>G (n.-64-6947T>G)
1g.94047036A>GCA341275511ABCA4c.2801T>C (p.Leu934Pro)
c.2579T>C (p.Leu860Pro)
c.-64-6947T>C (n.-64-6947T>C)
 COSMIC COSMIC
1g.94047036A>TCA341275512ABCA4c.2801T>A (p.Leu934Gln)
c.2579T>A (p.Leu860Gln)
c.-64-6947T>A (n.-64-6947T>A)
1g.94047037delCA2646650148ABCA4c.2800del (p.Leu934TrpfsTer2)
c.2578del (p.Leu860TrpfsTer2)
c.-64-6948del (n.-64-6948del)
 gnomAD v4
1g.94047037G>ACA418812117ABCA4c.2800C>T (p.Leu934=)
c.2578C>T (p.Leu860=)
c.-64-6948C>T (n.-64-6948C>T)
1g.94047037G>CCA341275514ABCA4c.2800C>G (p.Leu934Val)
c.2578C>G (p.Leu860Val)
c.-64-6948C>G (n.-64-6948C>G)
1g.94047037G>TCA341275515ABCA4c.2800C>A (p.Leu934Met)
c.2578C>A (p.Leu860Met)
c.-64-6948C>A (n.-64-6948C>A)
1g.94047038A>CCA341275516ABCA4c.2799T>G (p.Asn933Lys)
c.2577T>G (p.Asn859Lys)
c.-64-6949T>G (n.-64-6949T>G)
1g.94047038A>GCA418812126ABCA4c.2799T>C (p.Asn933=)
c.2577T>C (p.Asn859=)
c.-64-6949T>C (n.-64-6949T>C)
1g.94047038A>TCA341275517ABCA4c.2799T>A (p.Asn933Lys)
c.2577T>A (p.Asn859Lys)
c.-64-6949T>A (n.-64-6949T>A)
1g.94047039T>ACA345716ABCA4c.2798A>T (p.Asn933Ile)
c.2576A>T (p.Asn859Ile)
c.-64-6950A>T (n.-64-6950A>T)
 ClinVar dbSNP gnomAD v4
1g.94047039T>CCA341275518ABCA4c.2798A>G (p.Asn933Ser)
c.2576A>G (p.Asn859Ser)
c.-64-6950A>G (n.-64-6950A>G)
1g.94047039T>GCA341275519ABCA4c.2798A>C (p.Asn933Thr)
c.2576A>C (p.Asn859Thr)
c.-64-6950A>C (n.-64-6950A>C)
1g.94047039T=CA1144233004ABCA4c.2798A= (p.Asn933=)
c.2576A= (p.Asn859=)
c.-64-6950A= (n.-64-6950A=)
1g.94047040T>ACA341275520ABCA4c.2797A>T (p.Asn933Tyr)
c.2575A>T (p.Asn859Tyr)
c.-64-6951A>T (n.-64-6951A>T)
1g.94047040T>CCA341275521ABCA4c.2797A>G (p.Asn933Asp)
c.2575A>G (p.Asn859Asp)
c.-64-6951A>G (n.-64-6951A>G)
1g.94047040T>GCA341275522ABCA4c.2797A>C (p.Asn933His)
c.2575A>C (p.Asn859His)
c.-64-6951A>C (n.-64-6951A>C)
1g.94047041C>ACA341275523ABCA4c.2796G>T (p.Lys932Asn)
c.2574G>T (p.Lys858Asn)
c.-64-6952G>T (n.-64-6952G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94047041C=CA1181422632ABCA4c.2796G= (p.Lys932=)
c.2574G= (p.Lys858=)
c.-64-6952G= (n.-64-6952G=)
1g.94047041C>GCA341275524ABCA4c.2796G>C (p.Lys932Asn)
c.2574G>C (p.Lys858Asn)
c.-64-6952G>C (n.-64-6952G>C)
1g.94047041C>TCA958150ABCA4c.2796G>A (p.Lys932=)
c.2574G>A (p.Lys858=)
c.-64-6952G>A (n.-64-6952G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94047042T>ACA341275525ABCA4c.2795A>T (p.Lys932Met)
c.2573A>T (p.Lys858Met)
c.-64-6953A>T (n.-64-6953A>T)
1g.94047042T>CCA958151ABCA4c.2795A>G (p.Lys932Arg)
c.2573A>G (p.Lys858Arg)
c.-64-6953A>G (n.-64-6953A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94047042T>GCA341275526ABCA4c.2795A>C (p.Lys932Thr)
c.2573A>C (p.Lys858Thr)
c.-64-6953A>C (n.-64-6953A>C)
1g.94047042T=CA1181422633ABCA4c.2795A= (p.Lys932=)
c.2573A= (p.Lys858=)
c.-64-6953A= (n.-64-6953A=)
1g.94047043T>ACA341275527ABCA4c.2794A>T (p.Lys932Ter)
c.2572A>T (p.Lys858Ter)
c.-64-6954A>T (n.-64-6954A>T)
1g.94047043T>CCA341275528ABCA4c.2794A>G (p.Lys932Glu)
c.2572A>G (p.Lys858Glu)
c.-64-6954A>G (n.-64-6954A>G)
1g.94047043T>GCA341275529ABCA4c.2794A>C (p.Lys932Gln)
c.2572A>C (p.Lys858Gln)
c.-64-6954A>C (n.-64-6954A>C)
1g.94047044C>ACA418812152ABCA4c.2793G>T (p.Val931=)
c.2571G>T (p.Val857=)
c.-64-6955G>T (n.-64-6955G>T)
1g.94047044C>GCA418812154ABCA4c.2793G>C (p.Val931=)
c.2571G>C (p.Val857=)
c.-64-6955G>C (n.-64-6955G>C)
1g.94047044C>TCA418812157ABCA4c.2793G>A (p.Val931=)
c.2571G>A (p.Val857=)
c.-64-6955G>A (n.-64-6955G>A)
1g.94047045A=CA1147789752ABCA4c.2792T= (p.Val931=)
c.2570T= (p.Val857=)
c.-64-6956T= (n.-64-6956T=)
1g.94047045A>CCA341275530ABCA4c.2792T>G (p.Val931Gly)
c.2570T>G (p.Val857Gly)
c.-64-6956T>G (n.-64-6956T>G)
1g.94047045A>GCA958152ABCA4c.2792T>C (p.Val931Ala)
c.2570T>C (p.Val857Ala)
c.-64-6956T>C (n.-64-6956T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047045A>TCA341275531ABCA4c.2792T>A (p.Val931Glu)
c.2570T>A (p.Val857Glu)
c.-64-6956T>A (n.-64-6956T>A)
1g.94047046C>ACA26840893ABCA4c.2791G>T (p.Val931Leu)
c.2569G>T (p.Val857Leu)
c.-64-6957G>T (n.-64-6957G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94047046C=CA1140670445ABCA4c.2791G= (p.Val931=)
c.2569G= (p.Val857=)
c.-64-6957G= (n.-64-6957G=)
1g.94047046C>GCA341275532ABCA4c.2791G>C (p.Val931Leu)
c.2569G>C (p.Val857Leu)
c.-64-6957G>C (n.-64-6957G>C)
 gnomAD v4
1g.94047046C>TCA227031ABCA4c.2791G>A (p.Val931Met)
c.2569G>A (p.Val857Met)
c.-64-6957G>A (n.-64-6957G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047047G>ACA958153ABCA4c.2790C>T (p.Cys930=)
c.2568C>T (p.Cys856=)
c.-64-6958C>T (n.-64-6958C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.94047047G>CCA341275533ABCA4c.2790C>G (p.Cys930Trp)
c.2568C>G (p.Cys856Trp)
c.-64-6958C>G (n.-64-6958C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.94047047G=CA1181422634ABCA4c.2790C= (p.Cys930=)
c.2568C= (p.Cys856=)
c.-64-6958C= (n.-64-6958C=)
1g.94047047G>TCA341275534ABCA4c.2790C>A (p.Cys930Ter)
c.2568C>A (p.Cys856Ter)
c.-64-6958C>A (n.-64-6958C>A)
1g.94047047_94047050delCA2744618308ABCA4c.2787_2790del (p.Cys930Ter)
c.2565_2568del (p.Cys856Ter)
c.-64-6961_-64-6958del (n.-64-6961_-64-6958del)
1g.94047048C>ACA341275537ABCA4c.2789G>T (p.Cys930Phe)
c.2567G>T (p.Cys856Phe)
c.-64-6959G>T (n.-64-6959G>T)
1g.94047048C>GCA341275536ABCA4c.2789G>C (p.Cys930Ser)
c.2567G>C (p.Cys856Ser)
c.-64-6959G>C (n.-64-6959G>C)
1g.94047048C>TCA341275535ABCA4c.2789G>A (p.Cys930Tyr)
c.2567G>A (p.Cys856Tyr)
c.-64-6959G>A (n.-64-6959G>A)
1g.94047049A>CCA341275538ABCA4c.2788T>G (p.Cys930Gly)
c.2566T>G (p.Cys856Gly)
c.-64-6960T>G (n.-64-6960T>G)
1g.94047049A>GCA341275539ABCA4c.2788T>C (p.Cys930Arg)
c.2566T>C (p.Cys856Arg)
c.-64-6960T>C (n.-64-6960T>C)
 gnomAD v4
1g.94047049A>TCA341275540ABCA4c.2788T>A (p.Cys930Ser)
c.2566T>A (p.Cys856Ser)
c.-64-6960T>A (n.-64-6960T>A)
 ClinVar dbSNP
1g.94047050T>ACA418812195ABCA4c.2787A>T (p.Val929=)
c.2565A>T (p.Val855=)
c.-64-6961A>T (n.-64-6961A>T)
1g.94047050T>CCA418812198ABCA4c.2787A>G (p.Val929=)
c.2565A>G (p.Val855=)
c.-64-6961A>G (n.-64-6961A>G)
1g.94047050T>GCA418812197ABCA4c.2787A>C (p.Val929=)
c.2565A>C (p.Val855=)
c.-64-6961A>C (n.-64-6961A>C)
1g.94047051A=CA1181422635ABCA4c.2786T= (p.Val929=)
c.2564T= (p.Val855=)
c.-64-6962T= (n.-64-6962T=)
1g.94047051A>CCA341275541ABCA4c.2786T>G (p.Val929Gly)
c.2564T>G (p.Val855Gly)
c.-64-6962T>G (n.-64-6962T>G)
1g.94047051A>GCA958154ABCA4c.2786T>C (p.Val929Ala)
c.2564T>C (p.Val855Ala)
c.-64-6962T>C (n.-64-6962T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94047051A>TCA341275542ABCA4c.2786T>A (p.Val929Glu)
c.2564T>A (p.Val855Glu)
c.-64-6962T>A (n.-64-6962T>A)
1g.94047052C>ACA341275543ABCA4c.2785G>T (p.Val929Leu)
c.2563G>T (p.Val855Leu)
c.-64-6963G>T (n.-64-6963G>T)
1g.94047052C=CA1181422636ABCA4c.2785G= (p.Val929=)
c.2563G= (p.Val855=)
c.-64-6963G= (n.-64-6963G=)
1g.94047052C>GCA341275544ABCA4c.2785G>C (p.Val929Leu)
c.2563G>C (p.Val855Leu)
c.-64-6963G>C (n.-64-6963G>C)
1g.94047052C>TCA958155ABCA4c.2785G>A (p.Val929Ile)
c.2563G>A (p.Val855Ile)
c.-64-6963G>A (n.-64-6963G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94047055dupCA2580063350ABCA4c.2785dup (p.Val929GlyfsTer11)
c.2563dup (p.Val855GlyfsTer11)
c.-64-6963dup (n.-64-6963dup)
 ClinVar
1g.94047053C>ACA418812221ABCA4c.2784G>T (p.Gly928=)
c.2562G>T (p.Gly854=)
c.-64-6964G>T (n.-64-6964G>T)
1g.94047053C>GCA418812228ABCA4c.2784G>C (p.Gly928=)
c.2562G>C (p.Gly854=)
c.-64-6964G>C (n.-64-6964G>C)
1g.94047053C>TCA418812231ABCA4c.2784G>A (p.Gly928=)
c.2562G>A (p.Gly854=)
c.-64-6964G>A (n.-64-6964G>A)
 ClinVar gnomAD v4
1g.94047054C>ACA341275545ABCA4c.2783G>T (p.Gly928Val)
c.2561G>T (p.Gly854Val)
c.-64-6965G>T (n.-64-6965G>T)
1g.94047054C>GCA341275546ABCA4c.2783G>C (p.Gly928Ala)
c.2561G>C (p.Gly854Ala)
c.-64-6965G>C (n.-64-6965G>C)
1g.94047054C>TCA341275547ABCA4c.2783G>A (p.Gly928Glu)
c.2561G>A (p.Gly854Glu)
c.-64-6965G>A (n.-64-6965G>A)
 gnomAD v4
1g.94047055C>ACA220679ABCA4c.2782G>T (p.Gly928Trp)
c.2560G>T (p.Gly854Trp)
c.-64-6966G>T (n.-64-6966G>T)
 ClinVar dbSNP
1g.94047055C=CA1144233005ABCA4c.2782G= (p.Gly928=)
c.2560G= (p.Gly854=)
c.-64-6966G= (n.-64-6966G=)
1g.94047055C>GCA341275549ABCA4c.2782G>C (p.Gly928Arg)
c.2560G>C (p.Gly854Arg)
c.-64-6966G>C (n.-64-6966G>C)
1g.94047055C>TCA341275548ABCA4c.2782G>A (p.Gly928Arg)
c.2560G>A (p.Gly854Arg)
c.-64-6966G>A (n.-64-6966G>A)
1g.94047056A=CA1181422637ABCA4c.2781T= (p.Pro927=)
c.2559T= (p.Pro853=)
c.-64-6967T= (n.-64-6967T=)
1g.94047056A>CCA418812247ABCA4c.2781T>G (p.Pro927=)
c.2559T>G (p.Pro853=)
c.-64-6967T>G (n.-64-6967T>G)
1g.94047056A>GCA418812250ABCA4c.2781T>C (p.Pro927=)
c.2559T>C (p.Pro853=)
c.-64-6967T>C (n.-64-6967T>C)
 ClinVar dbSNP
1g.94047056A>TCA418812252ABCA4c.2781T>A (p.Pro927=)
c.2559T>A (p.Pro853=)
c.-64-6967T>A (n.-64-6967T>A)
1g.94047057G>ACA341275550ABCA4c.2780C>T (p.Pro927Leu)
c.2558C>T (p.Pro853Leu)
c.-64-6968C>T (n.-64-6968C>T)
 gnomAD v4
1g.94047057G>CCA341275552ABCA4c.2780C>G (p.Pro927Arg)
c.2558C>G (p.Pro853Arg)
c.-64-6968C>G (n.-64-6968C>G)
1g.94047057G>TCA341275551ABCA4c.2780C>A (p.Pro927His)
c.2558C>A (p.Pro853His)
c.-64-6968C>A (n.-64-6968C>A)
1g.94047058G>ACA26840906ABCA4c.2779C>T (p.Pro927Ser)
c.2557C>T (p.Pro853Ser)
c.-64-6969C>T (n.-64-6969C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94047058G>CCA341275554ABCA4c.2779C>G (p.Pro927Ala)
c.2557C>G (p.Pro853Ala)
c.-64-6969C>G (n.-64-6969C>G)
1g.94047058G=CA1181422638ABCA4c.2779C= (p.Pro927=)
c.2557C= (p.Pro853=)
c.-64-6969C= (n.-64-6969C=)
1g.94047058G>TCA341275553ABCA4c.2779C>A (p.Pro927Thr)
c.2557C>A (p.Pro853Thr)
c.-64-6969C>A (n.-64-6969C>A)
1g.94047059A=CA1181422639ABCA4c.2778T= (p.Val926=)
c.2556T= (p.Val852=)
c.-64-6970T= (n.-64-6970T=)
1g.94047059A>CCA418812286ABCA4c.2778T>G (p.Val926=)
c.2556T>G (p.Val852=)
c.-64-6970T>G (n.-64-6970T>G)
1g.94047059A>GCA958156ABCA4c.2778T>C (p.Val926=)
c.2556T>C (p.Val852=)
c.-64-6970T>C (n.-64-6970T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047059A>TCA418812284ABCA4c.2778T>A (p.Val926=)
c.2556T>A (p.Val852=)
c.-64-6970T>A (n.-64-6970T>A)
1g.94047060A>CCA341275555ABCA4c.2777T>G (p.Val926Gly)
c.2555T>G (p.Val852Gly)
c.-64-6971T>G (n.-64-6971T>G)
1g.94047060A>GCA341275556ABCA4c.2777T>C (p.Val926Ala)
c.2555T>C (p.Val852Ala)
c.-64-6971T>C (n.-64-6971T>C)
1g.94047060A>TCA341275557ABCA4c.2777T>A (p.Val926Asp)
c.2555T>A (p.Val852Asp)
c.-64-6971T>A (n.-64-6971T>A)
1g.94047061C>ACA341275558ABCA4c.2776G>T (p.Val926Phe)
c.2554G>T (p.Val852Phe)
c.-64-6972G>T (n.-64-6972G>T)
 dbSNP
1g.94047061C=CA1181422640ABCA4c.2776G= (p.Val926=)
c.2554G= (p.Val852=)
c.-64-6972G= (n.-64-6972G=)
1g.94047061C>GCA341275559ABCA4c.2776G>C (p.Val926Leu)
c.2554G>C (p.Val852Leu)
c.-64-6972G>C (n.-64-6972G>C)
1g.94047061C>TCA341275560ABCA4c.2776G>A (p.Val926Ile)
c.2554G>A (p.Val852Ile)
c.-64-6972G>A (n.-64-6972G>A)
 dbSNP gnomAD v4
1g.94047062C>ACA341275561ABCA4c.2775G>T (p.Trp925Cys)
c.2553G>T (p.Trp851Cys)
c.-64-6973G>T (n.-64-6973G>T)
1g.94047062C>GCA341275562ABCA4c.2775G>C (p.Trp925Cys)
c.2553G>C (p.Trp851Cys)
c.-64-6973G>C (n.-64-6973G>C)
1g.94047062C>TCA341275563ABCA4c.2775G>A (p.Trp925Ter)
c.2553G>A (p.Trp851Ter)
c.-64-6973G>A (n.-64-6973G>A)
 gnomAD v4
1g.94047063C>ACA341275566ABCA4c.2774G>T (p.Trp925Leu)
c.2552G>T (p.Trp851Leu)
c.-64-6974G>T (n.-64-6974G>T)
1g.94047063C>GCA341275565ABCA4c.2774G>C (p.Trp925Ser)
c.2552G>C (p.Trp851Ser)
c.-64-6974G>C (n.-64-6974G>C)
1g.94047063C>TCA341275564ABCA4c.2774G>A (p.Trp925Ter)
c.2552G>A (p.Trp851Ter)
c.-64-6974G>A (n.-64-6974G>A)
1g.94047064A>CCA341275567ABCA4c.2773T>G (p.Trp925Gly)
c.2551T>G (p.Trp851Gly)
c.-64-6975T>G (n.-64-6975T>G)
1g.94047064A>GCA341275568ABCA4c.2773T>C (p.Trp925Arg)
c.2551T>C (p.Trp851Arg)
c.-64-6975T>C (n.-64-6975T>C)
1g.94047064A>TCA341275569ABCA4c.2773T>A (p.Trp925Arg)
c.2551T>A (p.Trp851Arg)
c.-64-6975T>A (n.-64-6975T>A)
1g.94047065C>ACA26840911ABCA4c.2772G>T (p.Gly924=)
c.2550G>T (p.Gly850=)
c.-64-6976G>T (n.-64-6976G>T)
 ClinVar dbSNP
1g.94047065C=CA1143826562ABCA4c.2772G= (p.Gly924=)
c.2550G= (p.Gly850=)
c.-64-6976G= (n.-64-6976G=)
1g.94047065C>GCA418812326ABCA4c.2772G>C (p.Gly924=)
c.2550G>C (p.Gly850=)
c.-64-6976G>C (n.-64-6976G>C)
 gnomAD v4
1g.94047065C>TCA418812328ABCA4c.2772G>A (p.Gly924=)
c.2550G>A (p.Gly850=)
c.-64-6976G>A (n.-64-6976G>A)
 ClinVar dbSNP
1g.94047066C>ACA341275570ABCA4c.2771G>T (p.Gly924Val)
c.2549G>T (p.Gly850Val)
c.-64-6977G>T (n.-64-6977G>T)
 gnomAD v4
1g.94047066C>GCA341275571ABCA4c.2771G>C (p.Gly924Ala)
c.2549G>C (p.Gly850Ala)
c.-64-6977G>C (n.-64-6977G>C)
1g.94047066C>TCA341275572ABCA4c.2771G>A (p.Gly924Glu)
c.2549G>A (p.Gly850Glu)
c.-64-6977G>A (n.-64-6977G>A)
 gnomAD v4
1g.94047067C>ACA341275573ABCA4c.2770G>T (p.Gly924Trp)
c.2548G>T (p.Gly850Trp)
c.-64-6978G>T (n.-64-6978G>T)
1g.94047067C>GCA341275574ABCA4c.2770G>C (p.Gly924Arg)
c.2548G>C (p.Gly850Arg)
c.-64-6978G>C (n.-64-6978G>C)
1g.94047067C>TCA341275575ABCA4c.2770G>A (p.Gly924Arg)
c.2548G>A (p.Gly850Arg)
c.-64-6978G>A (n.-64-6978G>A)
 ClinVar dbSNP
1g.94047068T>ACA418812340ABCA4c.2769A>T (p.Pro923=)
c.2547A>T (p.Pro849=)
c.-64-6979A>T (n.-64-6979A>T)
1g.94047068T>CCA958157ABCA4c.2769A>G (p.Pro923=)
c.2547A>G (p.Pro849=)
c.-64-6979A>G (n.-64-6979A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047068T>GCA418812343ABCA4c.2769A>C (p.Pro923=)
c.2547A>C (p.Pro849=)
c.-64-6979A>C (n.-64-6979A>C)
 gnomAD v4
1g.94047068T=CA1146947531ABCA4c.2769A= (p.Pro923=)
c.2547A= (p.Pro849=)
c.-64-6979A= (n.-64-6979A=)
1g.94047069G>ACA341275578ABCA4c.2768C>T (p.Pro923Leu)
c.2546C>T (p.Pro849Leu)
c.-64-6980C>T (n.-64-6980C>T)
1g.94047069G>CCA341275577ABCA4c.2768C>G (p.Pro923Arg)
c.2546C>G (p.Pro849Arg)
c.-64-6980C>G (n.-64-6980C>G)
 gnomAD v4
1g.94047069G>TCA341275576ABCA4c.2768C>A (p.Pro923Gln)
c.2546C>A (p.Pro849Gln)
c.-64-6980C>A (n.-64-6980C>A)
1g.94047070delCA2586966888ABCA4c.2768del (p.Pro923GlnfsTer9)
c.2546del (p.Pro849GlnfsTer9)
c.-64-6980del (n.-64-6980del)
1g.94047070G>ACA341275579ABCA4c.2767C>T (p.Pro923Ser)
c.2545C>T (p.Pro849Ser)
c.-64-6981C>T (n.-64-6981C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.94047070G>CCA341275580ABCA4c.2767C>G (p.Pro923Ala)
c.2545C>G (p.Pro849Ala)
c.-64-6981C>G (n.-64-6981C>G)
 ClinVar
1g.94047070G=CA1181422641ABCA4c.2767C= (p.Pro923=)
c.2545C= (p.Pro849=)
c.-64-6981C= (n.-64-6981C=)
1g.94047070G>TCA341275581ABCA4c.2767C>A (p.Pro923Thr)
c.2545C>A (p.Pro849Thr)
c.-64-6981C>A (n.-64-6981C>A)
 gnomAD v4
1g.94047071A>CCA341275582ABCA4c.2766T>G (p.His922Gln)
c.2544T>G (p.His848Gln)
c.-64-6982T>G (n.-64-6982T>G)
1g.94047071A>GCA418812358ABCA4c.2766T>C (p.His922=)
c.2544T>C (p.His848=)
c.-64-6982T>C (n.-64-6982T>C)
1g.94047071A>TCA341275583ABCA4c.2766T>A (p.His922Gln)
c.2544T>A (p.His848Gln)
c.-64-6982T>A (n.-64-6982T>A)
1g.94047072T>ACA341275584ABCA4c.2765A>T (p.His922Leu)
c.2543A>T (p.His848Leu)
c.-64-6983A>T (n.-64-6983A>T)
1g.94047072T>CCA341275585ABCA4c.2765A>G (p.His922Arg)
c.2543A>G (p.His848Arg)
c.-64-6983A>G (n.-64-6983A>G)
1g.94047072T>GCA341275586ABCA4c.2765A>C (p.His922Pro)
c.2543A>C (p.His848Pro)
c.-64-6983A>C (n.-64-6983A>C)
1g.94047073G>ACA341275587ABCA4c.2764C>T (p.His922Tyr)
c.2542C>T (p.His848Tyr)
c.-64-6984C>T (n.-64-6984C>T)
1g.94047073G>CCA341275588ABCA4c.2764C>G (p.His922Asp)
c.2542C>G (p.His848Asp)
c.-64-6984C>G (n.-64-6984C>G)
1g.94047073G>TCA341275589ABCA4c.2764C>A (p.His922Asn)
c.2542C>A (p.His848Asn)
c.-64-6984C>A (n.-64-6984C>A)
1g.94047074C>ACA341275590ABCA4c.2763G>T (p.Glu921Asp)
c.2541G>T (p.Glu847Asp)
c.-64-6985G>T (n.-64-6985G>T)
1g.94047074C=CA1149075497ABCA4c.2763G= (p.Glu921=)
c.2541G= (p.Glu847=)
c.-64-6985G= (n.-64-6985G=)
1g.94047074C>GCA958158ABCA4c.2763G>C (p.Glu921Asp)
c.2541G>C (p.Glu847Asp)
c.-64-6985G>C (n.-64-6985G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94047074C>TCA958159ABCA4c.2763G>A (p.Glu921=)
c.2541G>A (p.Glu847=)
c.-64-6985G>A (n.-64-6985G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94047075T>ACA341275591ABCA4c.2762A>T (p.Glu921Val)
c.2540A>T (p.Glu847Val)
c.-64-6986A>T (n.-64-6986A>T)
1g.94047075T>CCA341275592ABCA4c.2762A>G (p.Glu921Gly)
c.2540A>G (p.Glu847Gly)
c.-64-6986A>G (n.-64-6986A>G)
1g.94047075T>GCA341275593ABCA4c.2762A>C (p.Glu921Ala)
c.2540A>C (p.Glu847Ala)
c.-64-6986A>C (n.-64-6986A>C)
1g.94047076C>ACA341275594ABCA4c.2761G>T (p.Glu921Ter)
c.2539G>T (p.Glu847Ter)
c.-64-6987G>T (n.-64-6987G>T)
1g.94047076C=CA1181422642ABCA4c.2761G= (p.Glu921=)
c.2539G= (p.Glu847=)
c.-64-6987G= (n.-64-6987G=)
1g.94047076C>GCA341275595ABCA4c.2761G>C (p.Glu921Gln)
c.2539G>C (p.Glu847Gln)
c.-64-6987G>C (n.-64-6987G>C)
1g.94047076C>TCA341275596ABCA4c.2761G>A (p.Glu921Lys)
c.2539G>A (p.Glu847Lys)
c.-64-6987G>A (n.-64-6987G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.94047077A=CA1181422643ABCA4c.2760T= (p.Arg920=)
c.2538T= (p.Arg846=)
c.-64-6988T= (n.-64-6988T=)
1g.94047077A>CCA418812398ABCA4c.2760T>G (p.Arg920=)
c.2538T>G (p.Arg846=)
c.-64-6988T>G (n.-64-6988T>G)
1g.94047077A>GCA958160ABCA4c.2760T>C (p.Arg920=)
c.2538T>C (p.Arg846=)
c.-64-6988T>C (n.-64-6988T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047077A>TCA418812402ABCA4c.2760T>A (p.Arg920=)
c.2538T>A (p.Arg846=)
c.-64-6988T>A (n.-64-6988T>A)
1g.94047078C>ACA958162ABCA4c.2759G>T (p.Arg920Leu)
c.2537G>T (p.Arg846Leu)
c.-64-6989G>T (n.-64-6989G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047078C=CA1144132887ABCA4c.2759G= (p.Arg920=)
c.2537G= (p.Arg846=)
c.-64-6989G= (n.-64-6989G=)
1g.94047078C>GCA341275597ABCA4c.2759G>C (p.Arg920Pro)
c.2537G>C (p.Arg846Pro)
c.-64-6989G>C (n.-64-6989G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.94047078C>TCA958161ABCA4c.2759G>A (p.Arg920His)
c.2537G>A (p.Arg846His)
c.-64-6989G>A (n.-64-6989G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047078_94047079insACAGCA2744618309ABCA4c.2758_2759insCTGT (p.Arg920ProfsTer3)
c.2536_2537insCTGT (p.Arg846ProfsTer3)
c.-64-6990_-64-6989insCTGT (n.-64-6990_-64-6989insCTGT)
1g.94047079G>ACA958163ABCA4c.2758C>T (p.Arg920Cys)
c.2536C>T (p.Arg846Cys)
c.-64-6990C>T (n.-64-6990C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94047079G>CCA341275598ABCA4c.2758C>G (p.Arg920Gly)
c.2536C>G (p.Arg846Gly)
c.-64-6990C>G (n.-64-6990C>G)
1g.94047079G=CA1144706064ABCA4c.2758C= (p.Arg920=)
c.2536C= (p.Arg846=)
c.-64-6990C= (n.-64-6990C=)
1g.94047079G>TCA341275599ABCA4c.2758C>A (p.Arg920Ser)
c.2536C>A (p.Arg846Ser)
c.-64-6990C>A (n.-64-6990C>A)
1g.94047080T>ACA341275600ABCA4c.2757A>T (p.Glu919Asp)
c.2535A>T (p.Glu845Asp)
c.-64-6991A>T (n.-64-6991A>T)
1g.94047080T>CCA26840930ABCA4c.2757A>G (p.Glu919=)
c.2535A>G (p.Glu845=)
c.-64-6991A>G (n.-64-6991A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94047080T>GCA958164ABCA4c.2757A>C (p.Glu919Asp)
c.2535A>C (p.Glu845Asp)
c.-64-6991A>C (n.-64-6991A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94047080T=CA1145192160ABCA4c.2757A= (p.Glu919=)
c.2535A= (p.Glu845=)
c.-64-6991A= (n.-64-6991A=)
1g.94047081T>ACA341275601ABCA4c.2756A>T (p.Glu919Val)
c.2534A>T (p.Glu845Val)
c.-64-6992A>T (n.-64-6992A>T)
1g.94047081T>CCA341275603ABCA4c.2756A>G (p.Glu919Gly)
c.2534A>G (p.Glu845Gly)
c.-64-6992A>G (n.-64-6992A>G)
1g.94047081T>GCA341275602ABCA4c.2756A>C (p.Glu919Ala)
c.2534A>C (p.Glu845Ala)
c.-64-6992A>C (n.-64-6992A>C)
1g.94047082C>ACA341275604ABCA4c.2755G>T (p.Glu919Ter)
c.2533G>T (p.Glu845Ter)
c.-64-6993G>T (n.-64-6993G>T)
1g.94047082C>GCA341275605ABCA4c.2755G>C (p.Glu919Gln)
c.2533G>C (p.Glu845Gln)
c.-64-6993G>C (n.-64-6993G>C)
1g.94047082C>TCA341275606ABCA4c.2755G>A (p.Glu919Lys)
c.2533G>A (p.Glu845Lys)
c.-64-6993G>A (n.-64-6993G>A)
1g.94047083A>CCA341275607ABCA4c.2754T>G (p.Phe918Leu)
c.2532T>G (p.Phe844Leu)
c.-64-6994T>G (n.-64-6994T>G)
1g.94047083A>GCA418812449ABCA4c.2754T>C (p.Phe918=)
c.2532T>C (p.Phe844=)
c.-64-6994T>C (n.-64-6994T>C)
1g.94047083A>TCA341275608ABCA4c.2754T>A (p.Phe918Leu)
c.2532T>A (p.Phe844Leu)
c.-64-6994T>A (n.-64-6994T>A)
1g.94047083_94047086delinsAAAGCA1181422644ABCA4c.2751_2754delinsCTTT (p.Phe917=)
c.2529_2532delinsCTTT (p.Phe843=)
c.-64-6997_-64-6994delinsCTTT (n.-64-6997_-64-6994delinsCTTT)
1g.94047084A>CCA341275609ABCA4c.2753T>G (p.Phe918Cys)
c.2531T>G (p.Phe844Cys)
c.-64-6995T>G (n.-64-6995T>G)
1g.94047084A>GCA341275610ABCA4c.2753T>C (p.Phe918Ser)
c.2531T>C (p.Phe844Ser)
c.-64-6995T>C (n.-64-6995T>C)
1g.94047084A>TCA341275611ABCA4c.2753T>A (p.Phe918Tyr)
c.2531T>A (p.Phe844Tyr)
c.-64-6995T>A (n.-64-6995T>A)
1g.94047087_94047089delCA418812458ABCA4c.2751_2753del (p.Phe918del)
c.2529_2531del (p.Phe844del)
c.-64-6997_-64-6995del (n.-64-6997_-64-6995del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94047085A>CCA341275612ABCA4c.2752T>G (p.Phe918Val)
c.2530T>G (p.Phe844Val)
c.-64-6996T>G (n.-64-6996T>G)
1g.94047085A>GCA341275613ABCA4c.2752T>C (p.Phe918Leu)
c.2530T>C (p.Phe844Leu)
c.-64-6996T>C (n.-64-6996T>C)
1g.94047085A>TCA341275614ABCA4c.2752T>A (p.Phe918Ile)
c.2530T>A (p.Phe844Ile)
c.-64-6996T>A (n.-64-6996T>A)
1g.94047086G>ACA418812466ABCA4c.2751C>T (p.Phe917=)
c.2529C>T (p.Phe843=)
c.-64-6997C>T (n.-64-6997C>T)
1g.94047086G>CCA341275615ABCA4c.2751C>G (p.Phe917Leu)
c.2529C>G (p.Phe843Leu)
c.-64-6997C>G (n.-64-6997C>G)
1g.94047086G>TCA341275616ABCA4c.2751C>A (p.Phe917Leu)
c.2529C>A (p.Phe843Leu)
c.-64-6997C>A (n.-64-6997C>A)
 COSMIC COSMIC
1g.94047087A>CCA341275617ABCA4c.2750T>G (p.Phe917Cys)
c.2528T>G (p.Phe843Cys)
c.-64-6998T>G (n.-64-6998T>G)
1g.94047087A>GCA341275619ABCA4c.2750T>C (p.Phe917Ser)
c.2528T>C (p.Phe843Ser)
c.-64-6998T>C (n.-64-6998T>C)
1g.94047087A>TCA341275618ABCA4c.2750T>A (p.Phe917Tyr)
c.2528T>A (p.Phe843Tyr)
c.-64-6998T>A (n.-64-6998T>A)
1g.94047088delCA2586966889ABCA4c.2750del (p.Phe917SerfsTer15)
c.2528del (p.Phe843SerfsTer15)
c.-64-6998del (n.-64-6998del)
1g.94047088A>CCA341275620ABCA4c.2749T>G (p.Phe917Val)
c.2527T>G (p.Phe843Val)
c.-64-6999T>G (n.-64-6999T>G)
1g.94047088A>GCA341275621ABCA4c.2749T>C (p.Phe917Leu)
c.2527T>C (p.Phe843Leu)
c.-64-6999T>C (n.-64-6999T>C)
1g.94047088A>TCA341275622ABCA4c.2749T>A (p.Phe917Ile)
c.2527T>A (p.Phe843Ile)
c.-64-6999T>A (n.-64-6999T>A)

Number of alleles fetched