Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104814154C>ACA374317610ABCA1c.3865G>T (p.Asp1289Tyr)
c.3871G>T (p.Asp1291Tyr)
c.3691G>T (p.Asp1231Tyr)
c.3946G>T (p.Asp1316Tyr)
c.3940G>T (p.Asp1314Tyr)
c.3508G>T (p.Asp1170Tyr)
c.3808G>T (p.Asp1270Tyr)
n.4259G>T
9g.104814154C=CA1869941330ABCA1c.3865G= (p.Asp1289=)
c.3871G= (p.Asp1291=)
c.3691G= (p.Asp1231=)
c.3946G= (p.Asp1316=)
c.3940G= (p.Asp1314=)
c.3508G= (p.Asp1170=)
c.3808G= (p.Asp1270=)
n.4259G=
9g.104814154C>GCA374317611ABCA1c.3865G>C (p.Asp1289His)
c.3871G>C (p.Asp1291His)
c.3691G>C (p.Asp1231His)
c.3946G>C (p.Asp1316His)
c.3940G>C (p.Asp1314His)
c.3508G>C (p.Asp1170His)
c.3808G>C (p.Asp1270His)
n.4259G>C
9g.104814154C>TCA120491ABCA1c.3865G>A (p.Asp1289Asn)
c.3871G>A (p.Asp1291Asn)
c.3691G>A (p.Asp1231Asn)
c.3946G>A (p.Asp1316Asn)
c.3940G>A (p.Asp1314Asn)
c.3508G>A (p.Asp1170Asn)
c.3808G>A (p.Asp1270Asn)
n.4259G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814155A>CCA374317612ABCA1c.3864T>G (p.Asp1288Glu)
c.3870T>G (p.Asp1290Glu)
c.3690T>G (p.Asp1230Glu)
c.3945T>G (p.Asp1315Glu)
c.3939T>G (p.Asp1313Glu)
c.3507T>G (p.Asp1169Glu)
c.3807T>G (p.Asp1269Glu)
n.4258T>G
9g.104814155A>GCA466505280ABCA1c.3864T>C (p.Asp1288=)
c.3870T>C (p.Asp1290=)
c.3690T>C (p.Asp1230=)
c.3945T>C (p.Asp1315=)
c.3939T>C (p.Asp1313=)
c.3507T>C (p.Asp1169=)
c.3807T>C (p.Asp1269=)
n.4258T>C
 ClinVar gnomAD v4
9g.104814155A>TCA374317613ABCA1c.3864T>A (p.Asp1288Glu)
c.3870T>A (p.Asp1290Glu)
c.3690T>A (p.Asp1230Glu)
c.3945T>A (p.Asp1315Glu)
c.3939T>A (p.Asp1313Glu)
c.3507T>A (p.Asp1169Glu)
c.3807T>A (p.Asp1269Glu)
n.4258T>A
9g.104814156T>ACA374317614ABCA1c.3863A>T (p.Asp1288Val)
c.3869A>T (p.Asp1290Val)
c.3689A>T (p.Asp1230Val)
c.3944A>T (p.Asp1315Val)
c.3938A>T (p.Asp1313Val)
c.3506A>T (p.Asp1169Val)
c.3806A>T (p.Asp1269Val)
n.4257A>T
9g.104814156T>CCA374317615ABCA1c.3863A>G (p.Asp1288Gly)
c.3869A>G (p.Asp1290Gly)
c.3689A>G (p.Asp1230Gly)
c.3944A>G (p.Asp1315Gly)
c.3938A>G (p.Asp1313Gly)
c.3506A>G (p.Asp1169Gly)
c.3806A>G (p.Asp1269Gly)
n.4257A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104814156T>GCA374317616ABCA1c.3863A>C (p.Asp1288Ala)
c.3869A>C (p.Asp1290Ala)
c.3689A>C (p.Asp1230Ala)
c.3944A>C (p.Asp1315Ala)
c.3938A>C (p.Asp1313Ala)
c.3506A>C (p.Asp1169Ala)
c.3806A>C (p.Asp1269Ala)
n.4257A>C
9g.104814156T=CA1869941339ABCA1c.3863A= (p.Asp1288=)
c.3869A= (p.Asp1290=)
c.3689A= (p.Asp1230=)
c.3944A= (p.Asp1315=)
c.3938A= (p.Asp1313=)
c.3506A= (p.Asp1169=)
c.3806A= (p.Asp1269=)
n.4257A=
9g.104814157C>ACA374317619ABCA1c.3862G>T (p.Asp1288Tyr)
c.3868G>T (p.Asp1290Tyr)
c.3688G>T (p.Asp1230Tyr)
c.3943G>T (p.Asp1315Tyr)
c.3937G>T (p.Asp1313Tyr)
c.3505G>T (p.Asp1169Tyr)
c.3805G>T (p.Asp1269Tyr)
n.4256G>T
 COSMIC
9g.104814157C>GCA374317617ABCA1c.3862G>C (p.Asp1288His)
c.3868G>C (p.Asp1290His)
c.3688G>C (p.Asp1230His)
c.3943G>C (p.Asp1315His)
c.3937G>C (p.Asp1313His)
c.3505G>C (p.Asp1169His)
c.3805G>C (p.Asp1269His)
n.4256G>C
9g.104814157C>TCA374317618ABCA1c.3862G>A (p.Asp1288Asn)
c.3868G>A (p.Asp1290Asn)
c.3688G>A (p.Asp1230Asn)
c.3943G>A (p.Asp1315Asn)
c.3937G>A (p.Asp1313Asn)
c.3505G>A (p.Asp1169Asn)
c.3805G>A (p.Asp1269Asn)
n.4256G>A
9g.104814158T>ACA374317620ABCA1c.3861A>T (p.Glu1287Asp)
c.3867A>T (p.Glu1289Asp)
c.3687A>T (p.Glu1229Asp)
c.3942A>T (p.Glu1314Asp)
c.3936A>T (p.Glu1312Asp)
c.3504A>T (p.Glu1168Asp)
c.3804A>T (p.Glu1268Asp)
n.4255A>T
9g.104814158T>CCA466505281ABCA1c.3861A>G (p.Glu1287=)
c.3867A>G (p.Glu1289=)
c.3687A>G (p.Glu1229=)
c.3942A>G (p.Glu1314=)
c.3936A>G (p.Glu1312=)
c.3504A>G (p.Glu1168=)
c.3804A>G (p.Glu1268=)
n.4255A>G
9g.104814158T>GCA374317621ABCA1c.3861A>C (p.Glu1287Asp)
c.3867A>C (p.Glu1289Asp)
c.3687A>C (p.Glu1229Asp)
c.3942A>C (p.Glu1314Asp)
c.3936A>C (p.Glu1312Asp)
c.3504A>C (p.Glu1168Asp)
c.3804A>C (p.Glu1268Asp)
n.4255A>C
9g.104814159T>ACA374317622ABCA1c.3860A>T (p.Glu1287Val)
c.3866A>T (p.Glu1289Val)
c.3686A>T (p.Glu1229Val)
c.3941A>T (p.Glu1314Val)
c.3935A>T (p.Glu1312Val)
c.3503A>T (p.Glu1168Val)
c.3803A>T (p.Glu1268Val)
n.4254A>T
9g.104814159T>CCA374317623ABCA1c.3860A>G (p.Glu1287Gly)
c.3866A>G (p.Glu1289Gly)
c.3686A>G (p.Glu1229Gly)
c.3941A>G (p.Glu1314Gly)
c.3935A>G (p.Glu1312Gly)
c.3503A>G (p.Glu1168Gly)
c.3803A>G (p.Glu1268Gly)
n.4254A>G
 gnomAD v4
9g.104814159T>GCA374317624ABCA1c.3860A>C (p.Glu1287Ala)
c.3866A>C (p.Glu1289Ala)
c.3686A>C (p.Glu1229Ala)
c.3941A>C (p.Glu1314Ala)
c.3935A>C (p.Glu1312Ala)
c.3503A>C (p.Glu1168Ala)
c.3803A>C (p.Glu1268Ala)
n.4254A>C
9g.104814160C>ACA374317625ABCA1c.3859G>T (p.Glu1287Ter)
c.3865G>T (p.Glu1289Ter)
c.3685G>T (p.Glu1229Ter)
c.3940G>T (p.Glu1314Ter)
c.3934G>T (p.Glu1312Ter)
c.3502G>T (p.Glu1168Ter)
c.3802G>T (p.Glu1268Ter)
n.4253G>T
9g.104814160C>GCA374317626ABCA1c.3859G>C (p.Glu1287Gln)
c.3865G>C (p.Glu1289Gln)
c.3685G>C (p.Glu1229Gln)
c.3940G>C (p.Glu1314Gln)
c.3934G>C (p.Glu1312Gln)
c.3502G>C (p.Glu1168Gln)
c.3802G>C (p.Glu1268Gln)
n.4253G>C
9g.104814160C>TCA374317627ABCA1c.3859G>A (p.Glu1287Lys)
c.3865G>A (p.Glu1289Lys)
c.3685G>A (p.Glu1229Lys)
c.3940G>A (p.Glu1314Lys)
c.3934G>A (p.Glu1312Lys)
c.3502G>A (p.Glu1168Lys)
c.3802G>A (p.Glu1268Lys)
n.4253G>A
 gnomAD v4
9g.104814161A>CCA466505282ABCA1c.3858T>G (p.Thr1286=)
c.3864T>G (p.Thr1288=)
c.3684T>G (p.Thr1228=)
c.3939T>G (p.Thr1313=)
c.3933T>G (p.Thr1311=)
c.3501T>G (p.Thr1167=)
c.3801T>G (p.Thr1267=)
n.4252T>G
9g.104814161A>GCA466505283ABCA1c.3858T>C (p.Thr1286=)
c.3864T>C (p.Thr1288=)
c.3684T>C (p.Thr1228=)
c.3939T>C (p.Thr1313=)
c.3933T>C (p.Thr1311=)
c.3501T>C (p.Thr1167=)
c.3801T>C (p.Thr1267=)
n.4252T>C
9g.104814161A>TCA466505284ABCA1c.3858T>A (p.Thr1286=)
c.3864T>A (p.Thr1288=)
c.3684T>A (p.Thr1228=)
c.3939T>A (p.Thr1313=)
c.3933T>A (p.Thr1311=)
c.3501T>A (p.Thr1167=)
c.3801T>A (p.Thr1267=)
n.4252T>A
9g.104814162G>ACA374317628ABCA1c.3857C>T (p.Thr1286Ile)
c.3863C>T (p.Thr1288Ile)
c.3683C>T (p.Thr1228Ile)
c.3938C>T (p.Thr1313Ile)
c.3932C>T (p.Thr1311Ile)
c.3500C>T (p.Thr1167Ile)
c.3800C>T (p.Thr1267Ile)
n.4251C>T
 gnomAD v4
9g.104814162G>CCA374317629ABCA1c.3857C>G (p.Thr1286Ser)
c.3863C>G (p.Thr1288Ser)
c.3683C>G (p.Thr1228Ser)
c.3938C>G (p.Thr1313Ser)
c.3932C>G (p.Thr1311Ser)
c.3500C>G (p.Thr1167Ser)
c.3800C>G (p.Thr1267Ser)
n.4251C>G
9g.104814162G>TCA374317630ABCA1c.3857C>A (p.Thr1286Asn)
c.3863C>A (p.Thr1288Asn)
c.3683C>A (p.Thr1228Asn)
c.3938C>A (p.Thr1313Asn)
c.3932C>A (p.Thr1311Asn)
c.3500C>A (p.Thr1167Asn)
c.3800C>A (p.Thr1267Asn)
n.4251C>A
9g.104814163T>ACA374317633ABCA1c.3856A>T (p.Thr1286Ser)
c.3862A>T (p.Thr1288Ser)
c.3682A>T (p.Thr1228Ser)
c.3937A>T (p.Thr1313Ser)
c.3931A>T (p.Thr1311Ser)
c.3499A>T (p.Thr1167Ser)
c.3799A>T (p.Thr1267Ser)
n.4250A>T
 gnomAD v4
9g.104814163T>CCA374317631ABCA1c.3856A>G (p.Thr1286Ala)
c.3862A>G (p.Thr1288Ala)
c.3682A>G (p.Thr1228Ala)
c.3937A>G (p.Thr1313Ala)
c.3931A>G (p.Thr1311Ala)
c.3499A>G (p.Thr1167Ala)
c.3799A>G (p.Thr1267Ala)
n.4250A>G
 ClinVar gnomAD v4
9g.104814163T>GCA374317632ABCA1c.3856A>C (p.Thr1286Pro)
c.3862A>C (p.Thr1288Pro)
c.3682A>C (p.Thr1228Pro)
c.3937A>C (p.Thr1313Pro)
c.3931A>C (p.Thr1311Pro)
c.3499A>C (p.Thr1167Pro)
c.3799A>C (p.Thr1267Pro)
n.4250A>C
9g.104814164G>ACA466505285ABCA1c.3855C>T (p.Phe1285=)
c.3861C>T (p.Phe1287=)
c.3681C>T (p.Phe1227=)
c.3936C>T (p.Phe1312=)
c.3930C>T (p.Phe1310=)
c.3498C>T (p.Phe1166=)
c.3798C>T (p.Phe1266=)
n.4249C>T
 dbSNP gnomAD v4
9g.104814164G>CCA374317634ABCA1c.3855C>G (p.Phe1285Leu)
c.3861C>G (p.Phe1287Leu)
c.3681C>G (p.Phe1227Leu)
c.3936C>G (p.Phe1312Leu)
c.3930C>G (p.Phe1310Leu)
c.3498C>G (p.Phe1166Leu)
c.3798C>G (p.Phe1266Leu)
n.4249C>G
 dbSNP gnomAD v4
9g.104814164G=CA1869941345ABCA1c.3855C= (p.Phe1285=)
c.3861C= (p.Phe1287=)
c.3681C= (p.Phe1227=)
c.3936C= (p.Phe1312=)
c.3930C= (p.Phe1310=)
c.3498C= (p.Phe1166=)
c.3798C= (p.Phe1266=)
n.4249C=
9g.104814164G>TCA374317635ABCA1c.3855C>A (p.Phe1285Leu)
c.3861C>A (p.Phe1287Leu)
c.3681C>A (p.Phe1227Leu)
c.3936C>A (p.Phe1312Leu)
c.3930C>A (p.Phe1310Leu)
c.3498C>A (p.Phe1166Leu)
c.3798C>A (p.Phe1266Leu)
n.4249C>A
9g.104814165A>CCA374317636ABCA1c.3854T>G (p.Phe1285Cys)
c.3860T>G (p.Phe1287Cys)
c.3680T>G (p.Phe1227Cys)
c.3935T>G (p.Phe1312Cys)
c.3929T>G (p.Phe1310Cys)
c.3497T>G (p.Phe1166Cys)
c.3797T>G (p.Phe1266Cys)
n.4248T>G
9g.104814165A>GCA374317637ABCA1c.3854T>C (p.Phe1285Ser)
c.3860T>C (p.Phe1287Ser)
c.3680T>C (p.Phe1227Ser)
c.3935T>C (p.Phe1312Ser)
c.3929T>C (p.Phe1310Ser)
c.3497T>C (p.Phe1166Ser)
c.3797T>C (p.Phe1266Ser)
n.4248T>C
9g.104814165A>TCA374317638ABCA1c.3854T>A (p.Phe1285Tyr)
c.3860T>A (p.Phe1287Tyr)
c.3680T>A (p.Phe1227Tyr)
c.3935T>A (p.Phe1312Tyr)
c.3929T>A (p.Phe1310Tyr)
c.3497T>A (p.Phe1166Tyr)
c.3797T>A (p.Phe1266Tyr)
n.4248T>A
9g.104814166A=CA1869941354ABCA1c.3853T= (p.Phe1285=)
c.3859T= (p.Phe1287=)
c.3679T= (p.Phe1227=)
c.3934T= (p.Phe1312=)
c.3928T= (p.Phe1310=)
c.3496T= (p.Phe1166=)
c.3796T= (p.Phe1266=)
n.4247T=
9g.104814166A>CCA374317639ABCA1c.3853T>G (p.Phe1285Val)
c.3859T>G (p.Phe1287Val)
c.3679T>G (p.Phe1227Val)
c.3934T>G (p.Phe1312Val)
c.3928T>G (p.Phe1310Val)
c.3496T>G (p.Phe1166Val)
c.3796T>G (p.Phe1266Val)
n.4247T>G
 gnomAD v4
9g.104814166A>GCA5168307ABCA1c.3853T>C (p.Phe1285Leu)
c.3859T>C (p.Phe1287Leu)
c.3679T>C (p.Phe1227Leu)
c.3934T>C (p.Phe1312Leu)
c.3928T>C (p.Phe1310Leu)
c.3496T>C (p.Phe1166Leu)
c.3796T>C (p.Phe1266Leu)
n.4247T>C
 dbSNP ExAC gnomAD v2
9g.104814166A>TCA374317640ABCA1c.3853T>A (p.Phe1285Ile)
c.3859T>A (p.Phe1287Ile)
c.3679T>A (p.Phe1227Ile)
c.3934T>A (p.Phe1312Ile)
c.3928T>A (p.Phe1310Ile)
c.3496T>A (p.Phe1166Ile)
c.3796T>A (p.Phe1266Ile)
n.4247T>A
9g.104814166_104814170delinsACGGGCA1869941358ABCA1c.3849_3853delinsCCCGT (p.Arg1283=)
c.3855_3859delinsCCCGT (p.Arg1285=)
c.3675_3679delinsCCCGT (p.Arg1225=)
c.3930_3934delinsCCCGT (p.Arg1310=)
c.3924_3928delinsCCCGT (p.Arg1308=)
c.3492_3496delinsCCCGT (p.Arg1164=)
c.3792_3796delinsCCCGT (p.Arg1264=)
n.4243_4247delinsCCCGT
9g.104814167C>ACA466505286ABCA1c.3852G>T (p.Pro1284=)
c.3858G>T (p.Pro1286=)
c.3678G>T (p.Pro1226=)
c.3933G>T (p.Pro1311=)
c.3927G>T (p.Pro1309=)
c.3495G>T (p.Pro1165=)
c.3795G>T (p.Pro1265=)
n.4246G>T
 ClinVar
9g.104814167C=CA1869941360ABCA1c.3852G= (p.Pro1284=)
c.3858G= (p.Pro1286=)
c.3678G= (p.Pro1226=)
c.3933G= (p.Pro1311=)
c.3927G= (p.Pro1309=)
c.3495G= (p.Pro1165=)
c.3795G= (p.Pro1265=)
n.4246G=
9g.104814167C>GCA466505287ABCA1c.3852G>C (p.Pro1284=)
c.3858G>C (p.Pro1286=)
c.3678G>C (p.Pro1226=)
c.3933G>C (p.Pro1311=)
c.3927G>C (p.Pro1309=)
c.3495G>C (p.Pro1165=)
c.3795G>C (p.Pro1265=)
n.4246G>C
9g.104814167C>TCA5168308ABCA1c.3852G>A (p.Pro1284=)
c.3858G>A (p.Pro1286=)
c.3678G>A (p.Pro1226=)
c.3933G>A (p.Pro1311=)
c.3927G>A (p.Pro1309=)
c.3495G>A (p.Pro1165=)
c.3795G>A (p.Pro1265=)
n.4246G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814169_104814172delCA120492ABCA1c.3849_3852del (p.Pro1284SerfsTer14)
c.3855_3858del (p.Pro1286SerfsTer14)
c.3675_3678del (p.Pro1226SerfsTer14)
c.3930_3933del (p.Pro1311SerfsTer14)
c.3924_3927del (p.Pro1309SerfsTer14)
c.3492_3495del (p.Pro1165SerfsTer14)
c.3792_3795del (p.Pro1265SerfsTer14)
n.4243_4246del
 ClinVar dbSNP
9g.104814168G>ACA5168309ABCA1c.3851C>T (p.Pro1284Leu)
c.3857C>T (p.Pro1286Leu)
c.3677C>T (p.Pro1226Leu)
c.3932C>T (p.Pro1311Leu)
c.3926C>T (p.Pro1309Leu)
c.3494C>T (p.Pro1165Leu)
c.3794C>T (p.Pro1265Leu)
n.4245C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814168G>CCA374317642ABCA1c.3851C>G (p.Pro1284Arg)
c.3857C>G (p.Pro1286Arg)
c.3677C>G (p.Pro1226Arg)
c.3932C>G (p.Pro1311Arg)
c.3926C>G (p.Pro1309Arg)
c.3494C>G (p.Pro1165Arg)
c.3794C>G (p.Pro1265Arg)
n.4245C>G
9g.104814168G=CA1869941370ABCA1c.3851C= (p.Pro1284=)
c.3857C= (p.Pro1286=)
c.3677C= (p.Pro1226=)
c.3932C= (p.Pro1311=)
c.3926C= (p.Pro1309=)
c.3494C= (p.Pro1165=)
c.3794C= (p.Pro1265=)
n.4245C=
9g.104814168G>TCA374317641ABCA1c.3851C>A (p.Pro1284Gln)
c.3857C>A (p.Pro1286Gln)
c.3677C>A (p.Pro1226Gln)
c.3932C>A (p.Pro1311Gln)
c.3926C>A (p.Pro1309Gln)
c.3494C>A (p.Pro1165Gln)
c.3794C>A (p.Pro1265Gln)
n.4245C>A
 dbSNP gnomAD v2 gnomAD v4
9g.104814169G>ACA374317643ABCA1c.3850C>T (p.Pro1284Ser)
c.3856C>T (p.Pro1286Ser)
c.3676C>T (p.Pro1226Ser)
c.3931C>T (p.Pro1311Ser)
c.3925C>T (p.Pro1309Ser)
c.3493C>T (p.Pro1165Ser)
c.3793C>T (p.Pro1265Ser)
n.4244C>T
9g.104814169G>CCA374317644ABCA1c.3850C>G (p.Pro1284Ala)
c.3856C>G (p.Pro1286Ala)
c.3676C>G (p.Pro1226Ala)
c.3931C>G (p.Pro1311Ala)
c.3925C>G (p.Pro1309Ala)
c.3493C>G (p.Pro1165Ala)
c.3793C>G (p.Pro1265Ala)
n.4244C>G
9g.104814169G>TCA374317645ABCA1c.3850C>A (p.Pro1284Thr)
c.3856C>A (p.Pro1286Thr)
c.3676C>A (p.Pro1226Thr)
c.3931C>A (p.Pro1311Thr)
c.3925C>A (p.Pro1309Thr)
c.3493C>A (p.Pro1165Thr)
c.3793C>A (p.Pro1265Thr)
n.4244C>A
9g.104814170G>ACA466505289ABCA1c.3849C>T (p.Arg1283=)
c.3855C>T (p.Arg1285=)
c.3675C>T (p.Arg1225=)
c.3930C>T (p.Arg1310=)
c.3924C>T (p.Arg1308=)
c.3492C>T (p.Arg1164=)
c.3792C>T (p.Arg1264=)
n.4243C>T
9g.104814170G>CCA466505288ABCA1c.3849C>G (p.Arg1283=)
c.3855C>G (p.Arg1285=)
c.3675C>G (p.Arg1225=)
c.3930C>G (p.Arg1310=)
c.3924C>G (p.Arg1308=)
c.3492C>G (p.Arg1164=)
c.3792C>G (p.Arg1264=)
n.4243C>G
9g.104814170G>TCA466505290ABCA1c.3849C>A (p.Arg1283=)
c.3855C>A (p.Arg1285=)
c.3675C>A (p.Arg1225=)
c.3930C>A (p.Arg1310=)
c.3924C>A (p.Arg1308=)
c.3492C>A (p.Arg1164=)
c.3792C>A (p.Arg1264=)
n.4243C>A
9g.104814171C>ACA374317646ABCA1c.3848G>T (p.Arg1283Leu)
c.3854G>T (p.Arg1285Leu)
c.3674G>T (p.Arg1225Leu)
c.3929G>T (p.Arg1310Leu)
c.3923G>T (p.Arg1308Leu)
c.3491G>T (p.Arg1164Leu)
c.3791G>T (p.Arg1264Leu)
n.4242G>T
9g.104814171C=CA1869941375ABCA1c.3848G= (p.Arg1283=)
c.3854G= (p.Arg1285=)
c.3674G= (p.Arg1225=)
c.3929G= (p.Arg1310=)
c.3923G= (p.Arg1308=)
c.3491G= (p.Arg1164=)
c.3791G= (p.Arg1264=)
n.4242G=
9g.104814171C>GCA374317648ABCA1c.3848G>C (p.Arg1283Pro)
c.3854G>C (p.Arg1285Pro)
c.3674G>C (p.Arg1225Pro)
c.3929G>C (p.Arg1310Pro)
c.3923G>C (p.Arg1308Pro)
c.3491G>C (p.Arg1164Pro)
c.3791G>C (p.Arg1264Pro)
n.4242G>C
9g.104814171C>TCA374317647ABCA1c.3848G>A (p.Arg1283His)
c.3854G>A (p.Arg1285His)
c.3674G>A (p.Arg1225His)
c.3929G>A (p.Arg1310His)
c.3923G>A (p.Arg1308His)
c.3491G>A (p.Arg1164His)
c.3791G>A (p.Arg1264His)
n.4242G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.104814172G>ACA5168310ABCA1c.3847C>T (p.Arg1283Cys)
c.3853C>T (p.Arg1285Cys)
c.3673C>T (p.Arg1225Cys)
c.3928C>T (p.Arg1310Cys)
c.3922C>T (p.Arg1308Cys)
c.3490C>T (p.Arg1164Cys)
c.3790C>T (p.Arg1264Cys)
n.4241C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814172G>CCA374317649ABCA1c.3847C>G (p.Arg1283Gly)
c.3853C>G (p.Arg1285Gly)
c.3673C>G (p.Arg1225Gly)
c.3928C>G (p.Arg1310Gly)
c.3922C>G (p.Arg1308Gly)
c.3490C>G (p.Arg1164Gly)
c.3790C>G (p.Arg1264Gly)
n.4241C>G
9g.104814172G=CA1869941380ABCA1c.3847C= (p.Arg1283=)
c.3853C= (p.Arg1285=)
c.3673C= (p.Arg1225=)
c.3928C= (p.Arg1310=)
c.3922C= (p.Arg1308=)
c.3490C= (p.Arg1164=)
c.3790C= (p.Arg1264=)
n.4241C=
9g.104814172G>TCA374317650ABCA1c.3847C>A (p.Arg1283Ser)
c.3853C>A (p.Arg1285Ser)
c.3673C>A (p.Arg1225Ser)
c.3928C>A (p.Arg1310Ser)
c.3922C>A (p.Arg1308Ser)
c.3490C>A (p.Arg1164Ser)
c.3790C>A (p.Arg1264Ser)
n.4241C>A
9g.104814173A>CCA466505291ABCA1c.3846T>G (p.Leu1282=)
c.3852T>G (p.Leu1284=)
c.3672T>G (p.Leu1224=)
c.3927T>G (p.Leu1309=)
c.3921T>G (p.Leu1307=)
c.3489T>G (p.Leu1163=)
c.3789T>G (p.Leu1263=)
n.4240T>G
9g.104814173A>GCA466505292ABCA1c.3846T>C (p.Leu1282=)
c.3852T>C (p.Leu1284=)
c.3672T>C (p.Leu1224=)
c.3927T>C (p.Leu1309=)
c.3921T>C (p.Leu1307=)
c.3489T>C (p.Leu1163=)
c.3789T>C (p.Leu1263=)
n.4240T>C
9g.104814173A>TCA466505293ABCA1c.3846T>A (p.Leu1282=)
c.3852T>A (p.Leu1284=)
c.3672T>A (p.Leu1224=)
c.3927T>A (p.Leu1309=)
c.3921T>A (p.Leu1307=)
c.3489T>A (p.Leu1163=)
c.3789T>A (p.Leu1263=)
n.4240T>A
9g.104814174A>CCA374317651ABCA1c.3845T>G (p.Leu1282Arg)
c.3851T>G (p.Leu1284Arg)
c.3671T>G (p.Leu1224Arg)
c.3926T>G (p.Leu1309Arg)
c.3920T>G (p.Leu1307Arg)
c.3488T>G (p.Leu1163Arg)
c.3788T>G (p.Leu1263Arg)
n.4239T>G
9g.104814174A>GCA374317652ABCA1c.3845T>C (p.Leu1282Pro)
c.3851T>C (p.Leu1284Pro)
c.3671T>C (p.Leu1224Pro)
c.3926T>C (p.Leu1309Pro)
c.3920T>C (p.Leu1307Pro)
c.3488T>C (p.Leu1163Pro)
c.3788T>C (p.Leu1263Pro)
n.4239T>C
9g.104814174A>TCA374317653ABCA1c.3845T>A (p.Leu1282His)
c.3851T>A (p.Leu1284His)
c.3671T>A (p.Leu1224His)
c.3926T>A (p.Leu1309His)
c.3920T>A (p.Leu1307His)
c.3488T>A (p.Leu1163His)
c.3788T>A (p.Leu1263His)
n.4239T>A
9g.104814175G>ACA374317654ABCA1c.3844C>T (p.Leu1282Phe)
c.3850C>T (p.Leu1284Phe)
c.3670C>T (p.Leu1224Phe)
c.3925C>T (p.Leu1309Phe)
c.3919C>T (p.Leu1307Phe)
c.3487C>T (p.Leu1163Phe)
c.3787C>T (p.Leu1263Phe)
n.4238C>T
 gnomAD v4
9g.104814175G>CCA374317655ABCA1c.3844C>G (p.Leu1282Val)
c.3850C>G (p.Leu1284Val)
c.3670C>G (p.Leu1224Val)
c.3925C>G (p.Leu1309Val)
c.3919C>G (p.Leu1307Val)
c.3487C>G (p.Leu1163Val)
c.3787C>G (p.Leu1263Val)
n.4238C>G
9g.104814175G>TCA374317656ABCA1c.3844C>A (p.Leu1282Ile)
c.3850C>A (p.Leu1284Ile)
c.3670C>A (p.Leu1224Ile)
c.3925C>A (p.Leu1309Ile)
c.3919C>A (p.Leu1307Ile)
c.3487C>A (p.Leu1163Ile)
c.3787C>A (p.Leu1263Ile)
n.4238C>A
9g.104814176A>CCA374317657ABCA1c.3843T>G (p.Cys1281Trp)
c.3849T>G (p.Cys1283Trp)
c.3669T>G (p.Cys1223Trp)
c.3924T>G (p.Cys1308Trp)
c.3918T>G (p.Cys1306Trp)
c.3486T>G (p.Cys1162Trp)
c.3786T>G (p.Cys1262Trp)
n.4237T>G
9g.104814176A>GCA466505294ABCA1c.3843T>C (p.Cys1281=)
c.3849T>C (p.Cys1283=)
c.3669T>C (p.Cys1223=)
c.3924T>C (p.Cys1308=)
c.3918T>C (p.Cys1306=)
c.3486T>C (p.Cys1162=)
c.3786T>C (p.Cys1262=)
n.4237T>C
9g.104814176A>TCA374317658ABCA1c.3843T>A (p.Cys1281Ter)
c.3849T>A (p.Cys1283Ter)
c.3669T>A (p.Cys1223Ter)
c.3924T>A (p.Cys1308Ter)
c.3918T>A (p.Cys1306Ter)
c.3486T>A (p.Cys1162Ter)
c.3786T>A (p.Cys1262Ter)
n.4237T>A
9g.104814177C>ACA374317661ABCA1c.3842G>T (p.Cys1281Phe)
c.3848G>T (p.Cys1283Phe)
c.3668G>T (p.Cys1223Phe)
c.3923G>T (p.Cys1308Phe)
c.3917G>T (p.Cys1306Phe)
c.3485G>T (p.Cys1162Phe)
c.3785G>T (p.Cys1262Phe)
n.4236G>T
9g.104814177C>GCA374317660ABCA1c.3842G>C (p.Cys1281Ser)
c.3848G>C (p.Cys1283Ser)
c.3668G>C (p.Cys1223Ser)
c.3923G>C (p.Cys1308Ser)
c.3917G>C (p.Cys1306Ser)
c.3485G>C (p.Cys1162Ser)
c.3785G>C (p.Cys1262Ser)
n.4236G>C
 gnomAD v4
9g.104814177C>TCA374317659ABCA1c.3842G>A (p.Cys1281Tyr)
c.3848G>A (p.Cys1283Tyr)
c.3668G>A (p.Cys1223Tyr)
c.3923G>A (p.Cys1308Tyr)
c.3917G>A (p.Cys1306Tyr)
c.3485G>A (p.Cys1162Tyr)
c.3785G>A (p.Cys1262Tyr)
n.4236G>A
9g.104814178A>CCA374317664ABCA1c.3841T>G (p.Cys1281Gly)
c.3847T>G (p.Cys1283Gly)
c.3667T>G (p.Cys1223Gly)
c.3922T>G (p.Cys1308Gly)
c.3916T>G (p.Cys1306Gly)
c.3484T>G (p.Cys1162Gly)
c.3784T>G (p.Cys1262Gly)
n.4235T>G
9g.104814178A>GCA374317662ABCA1c.3841T>C (p.Cys1281Arg)
c.3847T>C (p.Cys1283Arg)
c.3667T>C (p.Cys1223Arg)
c.3922T>C (p.Cys1308Arg)
c.3916T>C (p.Cys1306Arg)
c.3484T>C (p.Cys1162Arg)
c.3784T>C (p.Cys1262Arg)
n.4235T>C
9g.104814178A>TCA374317663ABCA1c.3841T>A (p.Cys1281Ser)
c.3847T>A (p.Cys1283Ser)
c.3667T>A (p.Cys1223Ser)
c.3922T>A (p.Cys1308Ser)
c.3916T>A (p.Cys1306Ser)
c.3484T>A (p.Cys1162Ser)
c.3784T>A (p.Cys1262Ser)
n.4235T>A
9g.104814179G>ACA466505295ABCA1c.3840C>T (p.Ser1280=)
c.3846C>T (p.Ser1282=)
c.3666C>T (p.Ser1222=)
c.3921C>T (p.Ser1307=)
c.3915C>T (p.Ser1305=)
c.3483C>T (p.Ser1161=)
c.3783C>T (p.Ser1261=)
n.4234C>T
9g.104814179G>CCA197378176ABCA1c.3840C>G (p.Ser1280Arg)
c.3846C>G (p.Ser1282Arg)
c.3666C>G (p.Ser1222Arg)
c.3921C>G (p.Ser1307Arg)
c.3915C>G (p.Ser1305Arg)
c.3483C>G (p.Ser1161Arg)
c.3783C>G (p.Ser1261Arg)
n.4234C>G
 dbSNP gnomAD v3 gnomAD v4
9g.104814179G=CA1869941383ABCA1c.3840C= (p.Ser1280=)
c.3846C= (p.Ser1282=)
c.3666C= (p.Ser1222=)
c.3921C= (p.Ser1307=)
c.3915C= (p.Ser1305=)
c.3483C= (p.Ser1161=)
c.3783C= (p.Ser1261=)
n.4234C=
9g.104814179G>TCA374317665ABCA1c.3840C>A (p.Ser1280Arg)
c.3846C>A (p.Ser1282Arg)
c.3666C>A (p.Ser1222Arg)
c.3921C>A (p.Ser1307Arg)
c.3915C>A (p.Ser1305Arg)
c.3483C>A (p.Ser1161Arg)
c.3783C>A (p.Ser1261Arg)
n.4234C>A
9g.104814180C>ACA374317666ABCA1c.3839G>T (p.Ser1280Ile)
c.3845G>T (p.Ser1282Ile)
c.3665G>T (p.Ser1222Ile)
c.3920G>T (p.Ser1307Ile)
c.3914G>T (p.Ser1305Ile)
c.3482G>T (p.Ser1161Ile)
c.3782G>T (p.Ser1261Ile)
n.4233G>T
9g.104814180C>GCA374317667ABCA1c.3839G>C (p.Ser1280Thr)
c.3845G>C (p.Ser1282Thr)
c.3665G>C (p.Ser1222Thr)
c.3920G>C (p.Ser1307Thr)
c.3914G>C (p.Ser1305Thr)
c.3482G>C (p.Ser1161Thr)
c.3782G>C (p.Ser1261Thr)
n.4233G>C
9g.104814180C>TCA374317668ABCA1c.3839G>A (p.Ser1280Asn)
c.3845G>A (p.Ser1282Asn)
c.3665G>A (p.Ser1222Asn)
c.3920G>A (p.Ser1307Asn)
c.3914G>A (p.Ser1305Asn)
c.3482G>A (p.Ser1161Asn)
c.3782G>A (p.Ser1261Asn)
n.4233G>A
9g.104814181T>ACA374317669ABCA1c.3838A>T (p.Ser1280Cys)
c.3844A>T (p.Ser1282Cys)
c.3664A>T (p.Ser1222Cys)
c.3919A>T (p.Ser1307Cys)
c.3913A>T (p.Ser1305Cys)
c.3481A>T (p.Ser1161Cys)
c.3781A>T (p.Ser1261Cys)
n.4232A>T
9g.104814181T>CCA374317670ABCA1c.3838A>G (p.Ser1280Gly)
c.3844A>G (p.Ser1282Gly)
c.3664A>G (p.Ser1222Gly)
c.3919A>G (p.Ser1307Gly)
c.3913A>G (p.Ser1305Gly)
c.3481A>G (p.Ser1161Gly)
c.3781A>G (p.Ser1261Gly)
n.4232A>G
 dbSNP
9g.104814181T>GCA374317671ABCA1c.3838A>C (p.Ser1280Arg)
c.3844A>C (p.Ser1282Arg)
c.3664A>C (p.Ser1222Arg)
c.3919A>C (p.Ser1307Arg)
c.3913A>C (p.Ser1305Arg)
c.3481A>C (p.Ser1161Arg)
c.3781A>C (p.Ser1261Arg)
n.4232A>C
9g.104814181T=CA1869941388ABCA1c.3838A= (p.Ser1280=)
c.3844A= (p.Ser1282=)
c.3664A= (p.Ser1222=)
c.3919A= (p.Ser1307=)
c.3913A= (p.Ser1305=)
c.3481A= (p.Ser1161=)
c.3781A= (p.Ser1261=)
n.4232A=
9g.104814182C>ACA374317672ABCA1c.3837G>T (p.Gln1279His)
c.3843G>T (p.Gln1281His)
c.3663G>T (p.Gln1221His)
c.3918G>T (p.Gln1306His)
c.3912G>T (p.Gln1304His)
c.3480G>T (p.Gln1160His)
c.3780G>T (p.Gln1260His)
n.4231G>T
 gnomAD v4
9g.104814182C>GCA374317673ABCA1c.3837G>C (p.Gln1279His)
c.3843G>C (p.Gln1281His)
c.3663G>C (p.Gln1221His)
c.3918G>C (p.Gln1306His)
c.3912G>C (p.Gln1304His)
c.3480G>C (p.Gln1160His)
c.3780G>C (p.Gln1260His)
n.4231G>C
9g.104814182C>TCA466505296ABCA1c.3837G>A (p.Gln1279=)
c.3843G>A (p.Gln1281=)
c.3663G>A (p.Gln1221=)
c.3918G>A (p.Gln1306=)
c.3912G>A (p.Gln1304=)
c.3480G>A (p.Gln1160=)
c.3780G>A (p.Gln1260=)
n.4231G>A
9g.104814183T>ACA374317675ABCA1c.3836A>T (p.Gln1279Leu)
c.3842A>T (p.Gln1281Leu)
c.3662A>T (p.Gln1221Leu)
c.3917A>T (p.Gln1306Leu)
c.3911A>T (p.Gln1304Leu)
c.3479A>T (p.Gln1160Leu)
c.3779A>T (p.Gln1260Leu)
n.4230A>T
9g.104814183T>CCA374317676ABCA1c.3836A>G (p.Gln1279Arg)
c.3842A>G (p.Gln1281Arg)
c.3662A>G (p.Gln1221Arg)
c.3917A>G (p.Gln1306Arg)
c.3911A>G (p.Gln1304Arg)
c.3479A>G (p.Gln1160Arg)
c.3779A>G (p.Gln1260Arg)
n.4230A>G
9g.104814183T>GCA374317674ABCA1c.3836A>C (p.Gln1279Pro)
c.3842A>C (p.Gln1281Pro)
c.3662A>C (p.Gln1221Pro)
c.3917A>C (p.Gln1306Pro)
c.3911A>C (p.Gln1304Pro)
c.3479A>C (p.Gln1160Pro)
c.3779A>C (p.Gln1260Pro)
n.4230A>C
9g.104814184G>ACA374317677ABCA1c.3835C>T (p.Gln1279Ter)
c.3841C>T (p.Gln1281Ter)
c.3661C>T (p.Gln1221Ter)
c.3916C>T (p.Gln1306Ter)
c.3910C>T (p.Gln1304Ter)
c.3478C>T (p.Gln1160Ter)
c.3778C>T (p.Gln1260Ter)
n.4229C>T
 dbSNP
9g.104814184G>CCA374317678ABCA1c.3835C>G (p.Gln1279Glu)
c.3841C>G (p.Gln1281Glu)
c.3661C>G (p.Gln1221Glu)
c.3916C>G (p.Gln1306Glu)
c.3910C>G (p.Gln1304Glu)
c.3478C>G (p.Gln1160Glu)
c.3778C>G (p.Gln1260Glu)
n.4229C>G
9g.104814184G=CA1869941393ABCA1c.3835C= (p.Gln1279=)
c.3841C= (p.Gln1281=)
c.3661C= (p.Gln1221=)
c.3916C= (p.Gln1306=)
c.3910C= (p.Gln1304=)
c.3478C= (p.Gln1160=)
c.3778C= (p.Gln1260=)
n.4229C=
9g.104814184G>TCA374317679ABCA1c.3835C>A (p.Gln1279Lys)
c.3841C>A (p.Gln1281Lys)
c.3661C>A (p.Gln1221Lys)
c.3916C>A (p.Gln1306Lys)
c.3910C>A (p.Gln1304Lys)
c.3478C>A (p.Gln1160Lys)
c.3778C>A (p.Gln1260Lys)
n.4229C>A
9g.104814185C>ACA374317680ABCA1c.3834G>T (p.Lys1278Asn)
c.3840G>T (p.Lys1280Asn)
c.3660G>T (p.Lys1220Asn)
c.3915G>T (p.Lys1305Asn)
c.3909G>T (p.Lys1303Asn)
c.3477G>T (p.Lys1159Asn)
c.3777G>T (p.Lys1259Asn)
n.4228G>T
9g.104814185C>GCA374317681ABCA1c.3834G>C (p.Lys1278Asn)
c.3840G>C (p.Lys1280Asn)
c.3660G>C (p.Lys1220Asn)
c.3915G>C (p.Lys1305Asn)
c.3909G>C (p.Lys1303Asn)
c.3477G>C (p.Lys1159Asn)
c.3777G>C (p.Lys1259Asn)
n.4228G>C
9g.104814185C>TCA466505297ABCA1c.3834G>A (p.Lys1278=)
c.3840G>A (p.Lys1280=)
c.3660G>A (p.Lys1220=)
c.3915G>A (p.Lys1305=)
c.3909G>A (p.Lys1303=)
c.3477G>A (p.Lys1159=)
c.3777G>A (p.Lys1259=)
n.4228G>A
9g.104814186T>ACA374317683ABCA1c.3833A>T (p.Lys1278Met)
c.3839A>T (p.Lys1280Met)
c.3659A>T (p.Lys1220Met)
c.3914A>T (p.Lys1305Met)
c.3908A>T (p.Lys1303Met)
c.3476A>T (p.Lys1159Met)
c.3776A>T (p.Lys1259Met)
n.4227A>T
9g.104814186T>CCA10628689ABCA1c.3833A>G (p.Lys1278Arg)
c.3839A>G (p.Lys1280Arg)
c.3659A>G (p.Lys1220Arg)
c.3914A>G (p.Lys1305Arg)
c.3908A>G (p.Lys1303Arg)
c.3476A>G (p.Lys1159Arg)
c.3776A>G (p.Lys1259Arg)
n.4227A>G
 ClinVar dbSNP gnomAD v4
9g.104814186T>GCA374317682ABCA1c.3833A>C (p.Lys1278Thr)
c.3839A>C (p.Lys1280Thr)
c.3659A>C (p.Lys1220Thr)
c.3914A>C (p.Lys1305Thr)
c.3908A>C (p.Lys1303Thr)
c.3476A>C (p.Lys1159Thr)
c.3776A>C (p.Lys1259Thr)
n.4227A>C
9g.104814186T=CA1869941403ABCA1c.3833A= (p.Lys1278=)
c.3839A= (p.Lys1280=)
c.3659A= (p.Lys1220=)
c.3914A= (p.Lys1305=)
c.3908A= (p.Lys1303=)
c.3476A= (p.Lys1159=)
c.3776A= (p.Lys1259=)
n.4227A=
9g.104814187T>ACA374317684ABCA1c.3832A>T (p.Lys1278Ter)
c.3838A>T (p.Lys1280Ter)
c.3658A>T (p.Lys1220Ter)
c.3913A>T (p.Lys1305Ter)
c.3907A>T (p.Lys1303Ter)
c.3475A>T (p.Lys1159Ter)
c.3775A>T (p.Lys1259Ter)
n.4226A>T
9g.104814187T>CCA374317685ABCA1c.3832A>G (p.Lys1278Glu)
c.3838A>G (p.Lys1280Glu)
c.3658A>G (p.Lys1220Glu)
c.3913A>G (p.Lys1305Glu)
c.3907A>G (p.Lys1303Glu)
c.3475A>G (p.Lys1159Glu)
c.3775A>G (p.Lys1259Glu)
n.4226A>G
9g.104814187T>GCA374317686ABCA1c.3832A>C (p.Lys1278Gln)
c.3838A>C (p.Lys1280Gln)
c.3658A>C (p.Lys1220Gln)
c.3913A>C (p.Lys1305Gln)
c.3907A>C (p.Lys1303Gln)
c.3475A>C (p.Lys1159Gln)
c.3775A>C (p.Lys1259Gln)
n.4226A>C
9g.104814188G>ACA5168311ABCA1c.3831C>T (p.Asp1277=)
c.3837C>T (p.Asp1279=)
c.3657C>T (p.Asp1219=)
c.3912C>T (p.Asp1304=)
c.3906C>T (p.Asp1302=)
c.3474C>T (p.Asp1158=)
c.3774C>T (p.Asp1258=)
n.4225C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814188G>CCA374317687ABCA1c.3831C>G (p.Asp1277Glu)
c.3837C>G (p.Asp1279Glu)
c.3657C>G (p.Asp1219Glu)
c.3912C>G (p.Asp1304Glu)
c.3906C>G (p.Asp1302Glu)
c.3474C>G (p.Asp1158Glu)
c.3774C>G (p.Asp1258Glu)
n.4225C>G
9g.104814188G=CA1869941411ABCA1c.3831C= (p.Asp1277=)
c.3837C= (p.Asp1279=)
c.3657C= (p.Asp1219=)
c.3912C= (p.Asp1304=)
c.3906C= (p.Asp1302=)
c.3474C= (p.Asp1158=)
c.3774C= (p.Asp1258=)
n.4225C=
9g.104814188G>TCA374317688ABCA1c.3831C>A (p.Asp1277Glu)
c.3837C>A (p.Asp1279Glu)
c.3657C>A (p.Asp1219Glu)
c.3912C>A (p.Asp1304Glu)
c.3906C>A (p.Asp1302Glu)
c.3474C>A (p.Asp1158Glu)
c.3774C>A (p.Asp1258Glu)
n.4225C>A
9g.104814189T>ACA374317690ABCA1c.3830A>T (p.Asp1277Val)
c.3836A>T (p.Asp1279Val)
c.3656A>T (p.Asp1219Val)
c.3911A>T (p.Asp1304Val)
c.3905A>T (p.Asp1302Val)
c.3473A>T (p.Asp1158Val)
c.3773A>T (p.Asp1258Val)
n.4224A>T
9g.104814189T>CCA374317691ABCA1c.3830A>G (p.Asp1277Gly)
c.3836A>G (p.Asp1279Gly)
c.3656A>G (p.Asp1219Gly)
c.3911A>G (p.Asp1304Gly)
c.3905A>G (p.Asp1302Gly)
c.3473A>G (p.Asp1158Gly)
c.3773A>G (p.Asp1258Gly)
n.4224A>G
9g.104814189T>GCA374317689ABCA1c.3830A>C (p.Asp1277Ala)
c.3836A>C (p.Asp1279Ala)
c.3656A>C (p.Asp1219Ala)
c.3911A>C (p.Asp1304Ala)
c.3905A>C (p.Asp1302Ala)
c.3473A>C (p.Asp1158Ala)
c.3773A>C (p.Asp1258Ala)
n.4224A>C
9g.104814190C>ACA374317692ABCA1c.3829G>T (p.Asp1277Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3655G>T (p.Asp1219Tyr)
c.3910G>T (p.Asp1304Tyr)
c.3904G>T (p.Asp1302Tyr)
c.3472G>T (p.Asp1158Tyr)
c.3772G>T (p.Asp1258Tyr)
n.4223G>T
9g.104814190C>GCA374317694ABCA1c.3829G>C (p.Asp1277His)
c.3835G>C (p.Asp1279His)
c.3655G>C (p.Asp1219His)
c.3910G>C (p.Asp1304His)
c.3904G>C (p.Asp1302His)
c.3472G>C (p.Asp1158His)
c.3772G>C (p.Asp1258His)
n.4223G>C
9g.104814190C>TCA374317693ABCA1c.3829G>A (p.Asp1277Asn)
c.3835G>A (p.Asp1279Asn)
c.3655G>A (p.Asp1219Asn)
c.3910G>A (p.Asp1304Asn)
c.3904G>A (p.Asp1302Asn)
c.3472G>A (p.Asp1158Asn)
c.3772G>A (p.Asp1258Asn)
n.4223G>A
9g.104814191C>ACA466505298ABCA1c.3828G>T (p.Gly1276=)
c.3834G>T (p.Gly1278=)
c.3654G>T (p.Gly1218=)
c.3909G>T (p.Gly1303=)
c.3903G>T (p.Gly1301=)
c.3471G>T (p.Gly1157=)
c.3771G>T (p.Gly1257=)
n.4222G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104814191C=CA1869941417ABCA1c.3828G= (p.Gly1276=)
c.3834G= (p.Gly1278=)
c.3654G= (p.Gly1218=)
c.3909G= (p.Gly1303=)
c.3903G= (p.Gly1301=)
c.3471G= (p.Gly1157=)
c.3771G= (p.Gly1257=)
n.4222G=
9g.104814191C>GCA466505299ABCA1c.3828G>C (p.Gly1276=)
c.3834G>C (p.Gly1278=)
c.3654G>C (p.Gly1218=)
c.3909G>C (p.Gly1303=)
c.3903G>C (p.Gly1301=)
c.3471G>C (p.Gly1157=)
c.3771G>C (p.Gly1257=)
n.4222G>C
9g.104814191C>TCA466505300ABCA1c.3828G>A (p.Gly1276=)
c.3834G>A (p.Gly1278=)
c.3654G>A (p.Gly1218=)
c.3909G>A (p.Gly1303=)
c.3903G>A (p.Gly1301=)
c.3471G>A (p.Gly1157=)
c.3771G>A (p.Gly1257=)
n.4222G>A
9g.104814192C>ACA374317695ABCA1c.3827G>T (p.Gly1276Val)
c.3833G>T (p.Gly1278Val)
c.3653G>T (p.Gly1218Val)
c.3908G>T (p.Gly1303Val)
c.3902G>T (p.Gly1301Val)
c.3470G>T (p.Gly1157Val)
c.3770G>T (p.Gly1257Val)
n.4221G>T
9g.104814192C>GCA374317696ABCA1c.3827G>C (p.Gly1276Ala)
c.3833G>C (p.Gly1278Ala)
c.3653G>C (p.Gly1218Ala)
c.3908G>C (p.Gly1303Ala)
c.3902G>C (p.Gly1301Ala)
c.3470G>C (p.Gly1157Ala)
c.3770G>C (p.Gly1257Ala)
n.4221G>C
9g.104814192C>TCA374317697ABCA1c.3827G>A (p.Gly1276Glu)
c.3833G>A (p.Gly1278Glu)
c.3653G>A (p.Gly1218Glu)
c.3908G>A (p.Gly1303Glu)
c.3902G>A (p.Gly1301Glu)
c.3470G>A (p.Gly1157Glu)
c.3770G>A (p.Gly1257Glu)
n.4221G>A
9g.104814193C>ACA5168313ABCA1c.3826G>T (p.Gly1276Trp)
c.3832G>T (p.Gly1278Trp)
c.3652G>T (p.Gly1218Trp)
c.3907G>T (p.Gly1303Trp)
c.3901G>T (p.Gly1301Trp)
c.3469G>T (p.Gly1157Trp)
c.3769G>T (p.Gly1257Trp)
n.4220G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104814193C=CA1869941423ABCA1c.3826G= (p.Gly1276=)
c.3832G= (p.Gly1278=)
c.3652G= (p.Gly1218=)
c.3907G= (p.Gly1303=)
c.3901G= (p.Gly1301=)
c.3469G= (p.Gly1157=)
c.3769G= (p.Gly1257=)
n.4220G=
9g.104814193C>GCA374317698ABCA1c.3826G>C (p.Gly1276Arg)
c.3832G>C (p.Gly1278Arg)
c.3652G>C (p.Gly1218Arg)
c.3907G>C (p.Gly1303Arg)
c.3901G>C (p.Gly1301Arg)
c.3469G>C (p.Gly1157Arg)
c.3769G>C (p.Gly1257Arg)
n.4220G>C
 gnomAD v4
9g.104814193C>TCA5168312ABCA1c.3826G>A (p.Gly1276Arg)
c.3832G>A (p.Gly1278Arg)
c.3652G>A (p.Gly1218Arg)
c.3907G>A (p.Gly1303Arg)
c.3901G>A (p.Gly1301Arg)
c.3469G>A (p.Gly1157Arg)
c.3769G>A (p.Gly1257Arg)
n.4220G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814194G>ACA5168314ABCA1c.3825C>T (p.Phe1275=)
c.3831C>T (p.Phe1277=)
c.3651C>T (p.Phe1217=)
c.3906C>T (p.Phe1302=)
c.3900C>T (p.Phe1300=)
c.3468C>T (p.Phe1156=)
c.3768C>T (p.Phe1256=)
n.4219C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814194G>CCA374317699ABCA1c.3825C>G (p.Phe1275Leu)
c.3831C>G (p.Phe1277Leu)
c.3651C>G (p.Phe1217Leu)
c.3906C>G (p.Phe1302Leu)
c.3900C>G (p.Phe1300Leu)
c.3468C>G (p.Phe1156Leu)
c.3768C>G (p.Phe1256Leu)
n.4219C>G
9g.104814194G=CA1869941430ABCA1c.3825C= (p.Phe1275=)
c.3831C= (p.Phe1277=)
c.3651C= (p.Phe1217=)
c.3906C= (p.Phe1302=)
c.3900C= (p.Phe1300=)
c.3468C= (p.Phe1156=)
c.3768C= (p.Phe1256=)
n.4219C=
9g.104814194G>TCA374317700ABCA1c.3825C>A (p.Phe1275Leu)
c.3831C>A (p.Phe1277Leu)
c.3651C>A (p.Phe1217Leu)
c.3906C>A (p.Phe1302Leu)
c.3900C>A (p.Phe1300Leu)
c.3468C>A (p.Phe1156Leu)
c.3768C>A (p.Phe1256Leu)
n.4219C>A
9g.104814195A>CCA374317701ABCA1c.3824T>G (p.Phe1275Cys)
c.3830T>G (p.Phe1277Cys)
c.3650T>G (p.Phe1217Cys)
c.3905T>G (p.Phe1302Cys)
c.3899T>G (p.Phe1300Cys)
c.3467T>G (p.Phe1156Cys)
c.3767T>G (p.Phe1256Cys)
n.4218T>G
9g.104814195A>GCA374317702ABCA1c.3824T>C (p.Phe1275Ser)
c.3830T>C (p.Phe1277Ser)
c.3650T>C (p.Phe1217Ser)
c.3905T>C (p.Phe1302Ser)
c.3899T>C (p.Phe1300Ser)
c.3467T>C (p.Phe1156Ser)
c.3767T>C (p.Phe1256Ser)
n.4218T>C
 COSMIC
9g.104814195A>TCA374317703ABCA1c.3824T>A (p.Phe1275Tyr)
c.3830T>A (p.Phe1277Tyr)
c.3650T>A (p.Phe1217Tyr)
c.3905T>A (p.Phe1302Tyr)
c.3899T>A (p.Phe1300Tyr)
c.3467T>A (p.Phe1156Tyr)
c.3767T>A (p.Phe1256Tyr)
n.4218T>A
9g.104814196A>CCA374317706ABCA1c.3823T>G (p.Phe1275Val)
c.3829T>G (p.Phe1277Val)
c.3649T>G (p.Phe1217Val)
c.3904T>G (p.Phe1302Val)
c.3898T>G (p.Phe1300Val)
c.3466T>G (p.Phe1156Val)
c.3766T>G (p.Phe1256Val)
n.4217T>G
9g.104814196A>GCA374317704ABCA1c.3823T>C (p.Phe1275Leu)
c.3829T>C (p.Phe1277Leu)
c.3649T>C (p.Phe1217Leu)
c.3904T>C (p.Phe1302Leu)
c.3898T>C (p.Phe1300Leu)
c.3466T>C (p.Phe1156Leu)
c.3766T>C (p.Phe1256Leu)
n.4217T>C
9g.104814196A>TCA374317705ABCA1c.3823T>A (p.Phe1275Ile)
c.3829T>A (p.Phe1277Ile)
c.3649T>A (p.Phe1217Ile)
c.3904T>A (p.Phe1302Ile)
c.3898T>A (p.Phe1300Ile)
c.3466T>A (p.Phe1156Ile)
c.3766T>A (p.Phe1256Ile)
n.4217T>A
9g.104814197G>ACA466505301ABCA1c.3822C>T (p.Ala1274=)
c.3828C>T (p.Ala1276=)
c.3648C>T (p.Ala1216=)
c.3903C>T (p.Ala1301=)
c.3897C>T (p.Ala1299=)
c.3465C>T (p.Ala1155=)
c.3765C>T (p.Ala1255=)
n.4216C>T
 gnomAD v4
9g.104814197G>CCA466505302ABCA1c.3822C>G (p.Ala1274=)
c.3828C>G (p.Ala1276=)
c.3648C>G (p.Ala1216=)
c.3903C>G (p.Ala1301=)
c.3897C>G (p.Ala1299=)
c.3465C>G (p.Ala1155=)
c.3765C>G (p.Ala1255=)
n.4216C>G
9g.104814197G>TCA466505303ABCA1c.3822C>A (p.Ala1274=)
c.3828C>A (p.Ala1276=)
c.3648C>A (p.Ala1216=)
c.3903C>A (p.Ala1301=)
c.3897C>A (p.Ala1299=)
c.3465C>A (p.Ala1155=)
c.3765C>A (p.Ala1255=)
n.4216C>A
9g.104814198G>ACA197378208ABCA1c.3821C>T (p.Ala1274Val)
c.3827C>T (p.Ala1276Val)
c.3647C>T (p.Ala1216Val)
c.3902C>T (p.Ala1301Val)
c.3896C>T (p.Ala1299Val)
c.3464C>T (p.Ala1155Val)
c.3764C>T (p.Ala1255Val)
n.4215C>T
 dbSNP
9g.104814198G>CCA374317707ABCA1c.3821C>G (p.Ala1274Gly)
c.3827C>G (p.Ala1276Gly)
c.3647C>G (p.Ala1216Gly)
c.3902C>G (p.Ala1301Gly)
c.3896C>G (p.Ala1299Gly)
c.3464C>G (p.Ala1155Gly)
c.3764C>G (p.Ala1255Gly)
n.4215C>G
 gnomAD v4
9g.104814198G=CA1869941439ABCA1c.3821C= (p.Ala1274=)
c.3827C= (p.Ala1276=)
c.3647C= (p.Ala1216=)
c.3902C= (p.Ala1301=)
c.3896C= (p.Ala1299=)
c.3464C= (p.Ala1155=)
c.3764C= (p.Ala1255=)
n.4215C=
9g.104814198G>TCA5168315ABCA1c.3821C>A (p.Ala1274Asp)
c.3827C>A (p.Ala1276Asp)
c.3647C>A (p.Ala1216Asp)
c.3902C>A (p.Ala1301Asp)
c.3896C>A (p.Ala1299Asp)
c.3464C>A (p.Ala1155Asp)
c.3764C>A (p.Ala1255Asp)
n.4215C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104814201_104814204delCA2691052429ABCA1c.3818_3821del (p.Arg1273ProfsTer25)
c.3824_3827del (p.Arg1275ProfsTer25)
c.3644_3647del (p.Arg1215ProfsTer25)
c.3899_3902del (p.Arg1300ProfsTer25)
c.3893_3896del (p.Arg1298ProfsTer25)
c.3461_3464del (p.Arg1154ProfsTer25)
c.3761_3764del (p.Arg1254ProfsTer25)
n.4212_4215del
 gnomAD v4
9g.104814199C>ACA374317708ABCA1c.3820G>T (p.Ala1274Ser)
c.3826G>T (p.Ala1276Ser)
c.3646G>T (p.Ala1216Ser)
c.3901G>T (p.Ala1301Ser)
c.3895G>T (p.Ala1299Ser)
c.3463G>T (p.Ala1155Ser)
c.3763G>T (p.Ala1255Ser)
n.4214G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104814199C=CA1869941443ABCA1c.3820G= (p.Ala1274=)
c.3826G= (p.Ala1276=)
c.3646G= (p.Ala1216=)
c.3901G= (p.Ala1301=)
c.3895G= (p.Ala1299=)
c.3463G= (p.Ala1155=)
c.3763G= (p.Ala1255=)
n.4214G=
9g.104814199C>GCA374317709ABCA1c.3820G>C (p.Ala1274Pro)
c.3826G>C (p.Ala1276Pro)
c.3646G>C (p.Ala1216Pro)
c.3901G>C (p.Ala1301Pro)
c.3895G>C (p.Ala1299Pro)
c.3463G>C (p.Ala1155Pro)
c.3763G>C (p.Ala1255Pro)
n.4214G>C
9g.104814199C>TCA374317710ABCA1c.3820G>A (p.Ala1274Thr)
c.3826G>A (p.Ala1276Thr)
c.3646G>A (p.Ala1216Thr)
c.3901G>A (p.Ala1301Thr)
c.3895G>A (p.Ala1299Thr)
c.3463G>A (p.Ala1155Thr)
c.3763G>A (p.Ala1255Thr)
n.4214G>A
9g.104814200C>ACA466505304ABCA1c.3819G>T (p.Arg1273=)
c.3825G>T (p.Arg1275=)
c.3645G>T (p.Arg1215=)
c.3900G>T (p.Arg1300=)
c.3894G>T (p.Arg1298=)
c.3462G>T (p.Arg1154=)
c.3762G>T (p.Arg1254=)
n.4213G>T
9g.104814200C>GCA466505305ABCA1c.3819G>C (p.Arg1273=)
c.3825G>C (p.Arg1275=)
c.3645G>C (p.Arg1215=)
c.3900G>C (p.Arg1300=)
c.3894G>C (p.Arg1298=)
c.3462G>C (p.Arg1154=)
c.3762G>C (p.Arg1254=)
n.4213G>C
9g.104814200C>TCA466505306ABCA1c.3819G>A (p.Arg1273=)
c.3825G>A (p.Arg1275=)
c.3645G>A (p.Arg1215=)
c.3900G>A (p.Arg1300=)
c.3894G>A (p.Arg1298=)
c.3462G>A (p.Arg1154=)
c.3762G>A (p.Arg1254=)
n.4213G>A
 dbSNP gnomAD v4
9g.104814201C>ACA5168317ABCA1c.3818G>T (p.Arg1273Leu)
c.3824G>T (p.Arg1275Leu)
c.3644G>T (p.Arg1215Leu)
c.3899G>T (p.Arg1300Leu)
c.3893G>T (p.Arg1298Leu)
c.3461G>T (p.Arg1154Leu)
c.3761G>T (p.Arg1254Leu)
n.4212G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814201C=CA1869941448ABCA1c.3818G= (p.Arg1273=)
c.3824G= (p.Arg1275=)
c.3644G= (p.Arg1215=)
c.3899G= (p.Arg1300=)
c.3893G= (p.Arg1298=)
c.3461G= (p.Arg1154=)
c.3761G= (p.Arg1254=)
n.4212G=
9g.104814201C>GCA374317711ABCA1c.3818G>C (p.Arg1273Pro)
c.3824G>C (p.Arg1275Pro)
c.3644G>C (p.Arg1215Pro)
c.3899G>C (p.Arg1300Pro)
c.3893G>C (p.Arg1298Pro)
c.3461G>C (p.Arg1154Pro)
c.3761G>C (p.Arg1254Pro)
n.4212G>C
9g.104814201C>TCA5168316ABCA1c.3818G>A (p.Arg1273Gln)
c.3824G>A (p.Arg1275Gln)
c.3644G>A (p.Arg1215Gln)
c.3899G>A (p.Arg1300Gln)
c.3893G>A (p.Arg1298Gln)
c.3461G>A (p.Arg1154Gln)
c.3761G>A (p.Arg1254Gln)
n.4212G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.104814202G>ACA5168318ABCA1c.3817C>T (p.Arg1273Trp)
c.3823C>T (p.Arg1275Trp)
c.3643C>T (p.Arg1215Trp)
c.3898C>T (p.Arg1300Trp)
c.3892C>T (p.Arg1298Trp)
c.3460C>T (p.Arg1154Trp)
c.3760C>T (p.Arg1254Trp)
n.4211C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104814202G>CCA374317712ABCA1c.3817C>G (p.Arg1273Gly)
c.3823C>G (p.Arg1275Gly)
c.3643C>G (p.Arg1215Gly)
c.3898C>G (p.Arg1300Gly)
c.3892C>G (p.Arg1298Gly)
c.3460C>G (p.Arg1154Gly)
c.3760C>G (p.Arg1254Gly)
n.4211C>G
9g.104814202G=CA1869941453ABCA1c.3817C= (p.Arg1273=)
c.3823C= (p.Arg1275=)
c.3643C= (p.Arg1215=)
c.3898C= (p.Arg1300=)
c.3892C= (p.Arg1298=)
c.3460C= (p.Arg1154=)
c.3760C= (p.Arg1254=)
n.4211C=
9g.104814202G>TCA466505307ABCA1c.3817C>A (p.Arg1273=)
c.3823C>A (p.Arg1275=)
c.3643C>A (p.Arg1215=)
c.3898C>A (p.Arg1300=)
c.3892C>A (p.Arg1298=)
c.3460C>A (p.Arg1154=)
c.3760C>A (p.Arg1254=)
n.4211C>A
 dbSNP
9g.104814203C>ACA374317714ABCA1c.3816G>T (p.Arg1272Ser)
c.3822G>T (p.Arg1274Ser)
c.3642G>T (p.Arg1214Ser)
c.3897G>T (p.Arg1299Ser)
c.3891G>T (p.Arg1297Ser)
c.3459G>T (p.Arg1153Ser)
c.3759G>T (p.Arg1253Ser)
n.4210G>T
 dbSNP gnomAD v2
9g.104814203C=CA1869941460ABCA1c.3816G= (p.Arg1272=)
c.3822G= (p.Arg1274=)
c.3642G= (p.Arg1214=)
c.3897G= (p.Arg1299=)
c.3891G= (p.Arg1297=)
c.3459G= (p.Arg1153=)
c.3759G= (p.Arg1253=)
n.4210G=
9g.104814203C>GCA374317713ABCA1c.3816G>C (p.Arg1272Ser)
c.3822G>C (p.Arg1274Ser)
c.3642G>C (p.Arg1214Ser)
c.3897G>C (p.Arg1299Ser)
c.3891G>C (p.Arg1297Ser)
c.3459G>C (p.Arg1153Ser)
c.3759G>C (p.Arg1253Ser)
n.4210G>C
9g.104814203C>TCA466505308ABCA1c.3816G>A (p.Arg1272=)
c.3822G>A (p.Arg1274=)
c.3642G>A (p.Arg1214=)
c.3897G>A (p.Arg1299=)
c.3891G>A (p.Arg1297=)
c.3459G>A (p.Arg1153=)
c.3759G>A (p.Arg1253=)
n.4210G>A
9g.104814204C>ACA374317715ABCA1c.3815G>T (p.Arg1272Met)
c.3821G>T (p.Arg1274Met)
c.3641G>T (p.Arg1214Met)
c.3896G>T (p.Arg1299Met)
c.3890G>T (p.Arg1297Met)
c.3458G>T (p.Arg1153Met)
c.3758G>T (p.Arg1253Met)
n.4209G>T
9g.104814204C>GCA374317716ABCA1c.3815G>C (p.Arg1272Thr)
c.3821G>C (p.Arg1274Thr)
c.3641G>C (p.Arg1214Thr)
c.3896G>C (p.Arg1299Thr)
c.3890G>C (p.Arg1297Thr)
c.3458G>C (p.Arg1153Thr)
c.3758G>C (p.Arg1253Thr)
n.4209G>C
9g.104814204C>TCA374317717ABCA1c.3815G>A (p.Arg1272Lys)
c.3821G>A (p.Arg1274Lys)
c.3641G>A (p.Arg1214Lys)
c.3896G>A (p.Arg1299Lys)
c.3890G>A (p.Arg1297Lys)
c.3458G>A (p.Arg1153Lys)
c.3758G>A (p.Arg1253Lys)
n.4209G>A
 ClinVar dbSNP
9g.104814205T>ACA374317718ABCA1c.3814A>T (p.Arg1272Trp)
c.3820A>T (p.Arg1274Trp)
c.3640A>T (p.Arg1214Trp)
c.3895A>T (p.Arg1299Trp)
c.3889A>T (p.Arg1297Trp)
c.3457A>T (p.Arg1153Trp)
c.3757A>T (p.Arg1253Trp)
n.4208A>T
9g.104814205T>CCA374317719ABCA1c.3814A>G (p.Arg1272Gly)
c.3820A>G (p.Arg1274Gly)
c.3640A>G (p.Arg1214Gly)
c.3895A>G (p.Arg1299Gly)
c.3889A>G (p.Arg1297Gly)
c.3457A>G (p.Arg1153Gly)
c.3757A>G (p.Arg1253Gly)
n.4208A>G
9g.104814205T>GCA466505309ABCA1c.3814A>C (p.Arg1272=)
c.3820A>C (p.Arg1274=)
c.3640A>C (p.Arg1214=)
c.3895A>C (p.Arg1299=)
c.3889A>C (p.Arg1297=)
c.3457A>C (p.Arg1153=)
c.3757A>C (p.Arg1253=)
n.4208A>C
9g.104814206G>ACA466505310ABCA1c.3813C>T (p.Asn1271=)
c.3819C>T (p.Asn1273=)
c.3639C>T (p.Asn1213=)
c.3894C>T (p.Asn1298=)
c.3888C>T (p.Asn1296=)
c.3456C>T (p.Asn1152=)
c.3756C>T (p.Asn1252=)
n.4207C>T
 gnomAD v4
9g.104814206G>CCA374317720ABCA1c.3813C>G (p.Asn1271Lys)
c.3819C>G (p.Asn1273Lys)
c.3639C>G (p.Asn1213Lys)
c.3894C>G (p.Asn1298Lys)
c.3888C>G (p.Asn1296Lys)
c.3456C>G (p.Asn1152Lys)
c.3756C>G (p.Asn1252Lys)
n.4207C>G
9g.104814206G>TCA374317721ABCA1c.3813C>A (p.Asn1271Lys)
c.3819C>A (p.Asn1273Lys)
c.3639C>A (p.Asn1213Lys)
c.3894C>A (p.Asn1298Lys)
c.3888C>A (p.Asn1296Lys)
c.3456C>A (p.Asn1152Lys)
c.3756C>A (p.Asn1252Lys)
n.4207C>A
 gnomAD v4
9g.104814207T>ACA374317722ABCA1c.3812A>T (p.Asn1271Ile)
c.3818A>T (p.Asn1273Ile)
c.3638A>T (p.Asn1213Ile)
c.3893A>T (p.Asn1298Ile)
c.3887A>T (p.Asn1296Ile)
c.3455A>T (p.Asn1152Ile)
c.3755A>T (p.Asn1252Ile)
n.4206A>T
9g.104814207T>CCA374317723ABCA1c.3812A>G (p.Asn1271Ser)
c.3818A>G (p.Asn1273Ser)
c.3638A>G (p.Asn1213Ser)
c.3893A>G (p.Asn1298Ser)
c.3887A>G (p.Asn1296Ser)
c.3455A>G (p.Asn1152Ser)
c.3755A>G (p.Asn1252Ser)
n.4206A>G
9g.104814207T>GCA374317724ABCA1c.3812A>C (p.Asn1271Thr)
c.3818A>C (p.Asn1273Thr)
c.3638A>C (p.Asn1213Thr)
c.3893A>C (p.Asn1298Thr)
c.3887A>C (p.Asn1296Thr)
c.3455A>C (p.Asn1152Thr)
c.3755A>C (p.Asn1252Thr)
n.4206A>C
9g.104814208T>ACA374317725ABCA1c.3811A>T (p.Asn1271Tyr)
c.3817A>T (p.Asn1273Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3892A>T (p.Asn1298Tyr)
c.3886A>T (p.Asn1296Tyr)
c.3454A>T (p.Asn1152Tyr)
c.3754A>T (p.Asn1252Tyr)
n.4205A>T
9g.104814208T>CCA374317726ABCA1c.3811A>G (p.Asn1271Asp)
c.3817A>G (p.Asn1273Asp)
c.3637A>G (p.Asn1213Asp)
c.3892A>G (p.Asn1298Asp)
c.3886A>G (p.Asn1296Asp)
c.3454A>G (p.Asn1152Asp)
c.3754A>G (p.Asn1252Asp)
n.4205A>G
9g.104814208T>GCA374317727ABCA1c.3811A>C (p.Asn1271His)
c.3817A>C (p.Asn1273His)
c.3637A>C (p.Asn1213His)
c.3892A>C (p.Asn1298His)
c.3886A>C (p.Asn1296His)
c.3454A>C (p.Asn1152His)
c.3754A>C (p.Asn1252His)
n.4205A>C
9g.104814209T>ACA466505311ABCA1c.3810A>T (p.Arg1270=)
c.3816A>T (p.Arg1272=)
c.3636A>T (p.Arg1212=)
c.3891A>T (p.Arg1297=)
c.3885A>T (p.Arg1295=)
c.3453A>T (p.Arg1151=)
c.3753A>T (p.Arg1251=)
n.4204A>T
9g.104814209T>CCA466505312ABCA1c.3810A>G (p.Arg1270=)
c.3816A>G (p.Arg1272=)
c.3636A>G (p.Arg1212=)
c.3891A>G (p.Arg1297=)
c.3885A>G (p.Arg1295=)
c.3453A>G (p.Arg1151=)
c.3753A>G (p.Arg1251=)
n.4204A>G
 dbSNP
9g.104814209T>GCA466505313ABCA1c.3810A>C (p.Arg1270=)
c.3816A>C (p.Arg1272=)
c.3636A>C (p.Arg1212=)
c.3891A>C (p.Arg1297=)
c.3885A>C (p.Arg1295=)
c.3453A>C (p.Arg1151=)
c.3753A>C (p.Arg1251=)
n.4204A>C
9g.104814209T=CA1869941463ABCA1c.3810A= (p.Arg1270=)
c.3816A= (p.Arg1272=)
c.3636A= (p.Arg1212=)
c.3891A= (p.Arg1297=)
c.3885A= (p.Arg1295=)
c.3453A= (p.Arg1151=)
c.3753A= (p.Arg1251=)
n.4204A=
9g.104814210C>ACA374317729ABCA1c.3809G>T (p.Arg1270Leu)
c.3815G>T (p.Arg1272Leu)
c.3635G>T (p.Arg1212Leu)
c.3890G>T (p.Arg1297Leu)
c.3884G>T (p.Arg1295Leu)
c.3452G>T (p.Arg1151Leu)
c.3752G>T (p.Arg1251Leu)
n.4203G>T
9g.104814210C=CA1869941465ABCA1c.3809G= (p.Arg1270=)
c.3815G= (p.Arg1272=)
c.3635G= (p.Arg1212=)
c.3890G= (p.Arg1297=)
c.3884G= (p.Arg1295=)
c.3452G= (p.Arg1151=)
c.3752G= (p.Arg1251=)
n.4203G=
9g.104814210C>GCA374317728ABCA1c.3809G>C (p.Arg1270Pro)
c.3815G>C (p.Arg1272Pro)
c.3635G>C (p.Arg1212Pro)
c.3890G>C (p.Arg1297Pro)
c.3884G>C (p.Arg1295Pro)
c.3452G>C (p.Arg1151Pro)
c.3752G>C (p.Arg1251Pro)
n.4203G>C
9g.104814210C>TCA5168319ABCA1c.3809G>A (p.Arg1270Gln)
c.3815G>A (p.Arg1272Gln)
c.3635G>A (p.Arg1212Gln)
c.3890G>A (p.Arg1297Gln)
c.3884G>A (p.Arg1295Gln)
c.3452G>A (p.Arg1151Gln)
c.3752G>A (p.Arg1251Gln)
n.4203G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814211G>ACA5168320ABCA1c.3808C>T (p.Arg1270Ter)
c.3814C>T (p.Arg1272Ter)
c.3634C>T (p.Arg1212Ter)
c.3889C>T (p.Arg1297Ter)
c.3883C>T (p.Arg1295Ter)
c.3451C>T (p.Arg1151Ter)
c.3751C>T (p.Arg1251Ter)
n.4202C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.104814211G>CCA374317730ABCA1c.3808C>G (p.Arg1270Gly)
c.3814C>G (p.Arg1272Gly)
c.3634C>G (p.Arg1212Gly)
c.3889C>G (p.Arg1297Gly)
c.3883C>G (p.Arg1295Gly)
c.3451C>G (p.Arg1151Gly)
c.3751C>G (p.Arg1251Gly)
n.4202C>G
 gnomAD v4
9g.104814211G=CA1869941472ABCA1c.3808C= (p.Arg1270=)
c.3814C= (p.Arg1272=)
c.3634C= (p.Arg1212=)
c.3889C= (p.Arg1297=)
c.3883C= (p.Arg1295=)
c.3451C= (p.Arg1151=)
c.3751C= (p.Arg1251=)
n.4202C=
9g.104814211G>TCA466505314ABCA1c.3808C>A (p.Arg1270=)
c.3814C>A (p.Arg1272=)
c.3634C>A (p.Arg1212=)
c.3889C>A (p.Arg1297=)
c.3883C>A (p.Arg1295=)
c.3451C>A (p.Arg1151=)
c.3751C>A (p.Arg1251=)
n.4202C>A
9g.104814212T>ACA374317731ABCA1c.3807A>T (p.Arg1269Ser)
c.3813A>T (p.Arg1271Ser)
c.3633A>T (p.Arg1211Ser)
c.3888A>T (p.Arg1296Ser)
c.3882A>T (p.Arg1294Ser)
c.3450A>T (p.Arg1150Ser)
c.3750A>T (p.Arg1250Ser)
n.4201A>T
9g.104814212T>CCA466505315ABCA1c.3807A>G (p.Arg1269=)
c.3813A>G (p.Arg1271=)
c.3633A>G (p.Arg1211=)
c.3888A>G (p.Arg1296=)
c.3882A>G (p.Arg1294=)
c.3450A>G (p.Arg1150=)
c.3750A>G (p.Arg1250=)
n.4201A>G
 dbSNP gnomAD v2
9g.104814212T>GCA374317732ABCA1c.3807A>C (p.Arg1269Ser)
c.3813A>C (p.Arg1271Ser)
c.3633A>C (p.Arg1211Ser)
c.3888A>C (p.Arg1296Ser)
c.3882A>C (p.Arg1294Ser)
c.3450A>C (p.Arg1150Ser)
c.3750A>C (p.Arg1250Ser)
n.4201A>C
9g.104814212T=CA1869941475ABCA1c.3807A= (p.Arg1269=)
c.3813A= (p.Arg1271=)
c.3633A= (p.Arg1211=)
c.3888A= (p.Arg1296=)
c.3882A= (p.Arg1294=)
c.3450A= (p.Arg1150=)
c.3750A= (p.Arg1250=)
n.4201A=
9g.104814213C>ACA374317733ABCA1c.3806G>T (p.Arg1269Ile)
c.3812G>T (p.Arg1271Ile)
c.3632G>T (p.Arg1211Ile)
c.3887G>T (p.Arg1296Ile)
c.3881G>T (p.Arg1294Ile)
c.3449G>T (p.Arg1150Ile)
c.3749G>T (p.Arg1250Ile)
n.4200G>T
9g.104814213C>GCA374317734ABCA1c.3806G>C (p.Arg1269Thr)
c.3812G>C (p.Arg1271Thr)
c.3632G>C (p.Arg1211Thr)
c.3887G>C (p.Arg1296Thr)
c.3881G>C (p.Arg1294Thr)
c.3449G>C (p.Arg1150Thr)
c.3749G>C (p.Arg1250Thr)
n.4200G>C
9g.104814213C>TCA374317735ABCA1c.3806G>A (p.Arg1269Lys)
c.3812G>A (p.Arg1271Lys)
c.3632G>A (p.Arg1211Lys)
c.3887G>A (p.Arg1296Lys)
c.3881G>A (p.Arg1294Lys)
c.3449G>A (p.Arg1150Lys)
c.3749G>A (p.Arg1250Lys)
n.4200G>A
9g.104814214T>ACA374317736ABCA1c.3805A>T (p.Arg1269Ter)
c.3811A>T (p.Arg1271Ter)
c.3631A>T (p.Arg1211Ter)
c.3886A>T (p.Arg1296Ter)
c.3880A>T (p.Arg1294Ter)
c.3448A>T (p.Arg1150Ter)
c.3748A>T (p.Arg1250Ter)
n.4199A>T
9g.104814214T>CCA374317737ABCA1c.3805A>G (p.Arg1269Gly)
c.3811A>G (p.Arg1271Gly)
c.3631A>G (p.Arg1211Gly)
c.3886A>G (p.Arg1296Gly)
c.3880A>G (p.Arg1294Gly)
c.3448A>G (p.Arg1150Gly)
c.3748A>G (p.Arg1250Gly)
n.4199A>G
9g.104814214T>GCA466505316ABCA1c.3805A>C (p.Arg1269=)
c.3811A>C (p.Arg1271=)
c.3631A>C (p.Arg1211=)
c.3886A>C (p.Arg1296=)
c.3880A>C (p.Arg1294=)
c.3448A>C (p.Arg1150=)
c.3748A>C (p.Arg1250=)
n.4199A>C
9g.104814215T>ACA466505317ABCA1c.3804A>T (p.Ala1268=)
c.3810A>T (p.Ala1270=)
c.3630A>T (p.Ala1210=)
c.3885A>T (p.Ala1295=)
c.3879A>T (p.Ala1293=)
c.3447A>T (p.Ala1149=)
c.3747A>T (p.Ala1249=)
n.4198A>T
9g.104814215T>CCA466505319ABCA1c.3804A>G (p.Ala1268=)
c.3810A>G (p.Ala1270=)
c.3630A>G (p.Ala1210=)
c.3885A>G (p.Ala1295=)
c.3879A>G (p.Ala1293=)
c.3447A>G (p.Ala1149=)
c.3747A>G (p.Ala1249=)
n.4198A>G
9g.104814215T>GCA466505318ABCA1c.3804A>C (p.Ala1268=)
c.3810A>C (p.Ala1270=)
c.3630A>C (p.Ala1210=)
c.3885A>C (p.Ala1295=)
c.3879A>C (p.Ala1293=)
c.3447A>C (p.Ala1149=)
c.3747A>C (p.Ala1249=)
n.4198A>C
9g.104814216G>ACA374317738ABCA1c.3803C>T (p.Ala1268Val)
c.3809C>T (p.Ala1270Val)
c.3629C>T (p.Ala1210Val)
c.3884C>T (p.Ala1295Val)
c.3878C>T (p.Ala1293Val)
c.3446C>T (p.Ala1149Val)
c.3746C>T (p.Ala1249Val)
n.4197C>T
9g.104814216G>CCA374317739ABCA1c.3803C>G (p.Ala1268Gly)
c.3809C>G (p.Ala1270Gly)
c.3629C>G (p.Ala1210Gly)
c.3884C>G (p.Ala1295Gly)
c.3878C>G (p.Ala1293Gly)
c.3446C>G (p.Ala1149Gly)
c.3746C>G (p.Ala1249Gly)
n.4197C>G
9g.104814216G>TCA374317740ABCA1c.3803C>A (p.Ala1268Glu)
c.3809C>A (p.Ala1270Glu)
c.3629C>A (p.Ala1210Glu)
c.3884C>A (p.Ala1295Glu)
c.3878C>A (p.Ala1293Glu)
c.3446C>A (p.Ala1149Glu)
c.3746C>A (p.Ala1249Glu)
n.4197C>A
9g.104814217C>ACA374317741ABCA1c.3802G>T (p.Ala1268Ser)
c.3808G>T (p.Ala1270Ser)
c.3628G>T (p.Ala1210Ser)
c.3883G>T (p.Ala1295Ser)
c.3877G>T (p.Ala1293Ser)
c.3445G>T (p.Ala1149Ser)
c.3745G>T (p.Ala1249Ser)
n.4196G>T
9g.104814217C>GCA374317743ABCA1c.3802G>C (p.Ala1268Pro)
c.3808G>C (p.Ala1270Pro)
c.3628G>C (p.Ala1210Pro)
c.3883G>C (p.Ala1295Pro)
c.3877G>C (p.Ala1293Pro)
c.3445G>C (p.Ala1149Pro)
c.3745G>C (p.Ala1249Pro)
n.4196G>C
9g.104814217C>TCA374317742ABCA1c.3802G>A (p.Ala1268Thr)
c.3808G>A (p.Ala1270Thr)
c.3628G>A (p.Ala1210Thr)
c.3883G>A (p.Ala1295Thr)
c.3877G>A (p.Ala1293Thr)
c.3445G>A (p.Ala1149Thr)
c.3745G>A (p.Ala1249Thr)
n.4196G>A
9g.104814218T>ACA466505320ABCA1c.3801A>T (p.Pro1267=)
c.3807A>T (p.Pro1269=)
c.3627A>T (p.Pro1209=)
c.3882A>T (p.Pro1294=)
c.3876A>T (p.Pro1292=)
c.3444A>T (p.Pro1148=)
c.3744A>T (p.Pro1248=)
n.4195A>T
9g.104814218T>CCA466505321ABCA1c.3801A>G (p.Pro1267=)
c.3807A>G (p.Pro1269=)
c.3627A>G (p.Pro1209=)
c.3882A>G (p.Pro1294=)
c.3876A>G (p.Pro1292=)
c.3444A>G (p.Pro1148=)
c.3744A>G (p.Pro1248=)
n.4195A>G
9g.104814218T>GCA466505322ABCA1c.3801A>C (p.Pro1267=)
c.3807A>C (p.Pro1269=)
c.3627A>C (p.Pro1209=)
c.3882A>C (p.Pro1294=)
c.3876A>C (p.Pro1292=)
c.3444A>C (p.Pro1148=)
c.3744A>C (p.Pro1248=)
n.4195A>C
 gnomAD v4
9g.104814219G>ACA374317744ABCA1c.3800C>T (p.Pro1267Leu)
c.3806C>T (p.Pro1269Leu)
c.3626C>T (p.Pro1209Leu)
c.3881C>T (p.Pro1294Leu)
c.3875C>T (p.Pro1292Leu)
c.3443C>T (p.Pro1148Leu)
c.3743C>T (p.Pro1248Leu)
n.4194C>T
9g.104814219G>CCA374317746ABCA1c.3800C>G (p.Pro1267Arg)
c.3806C>G (p.Pro1269Arg)
c.3626C>G (p.Pro1209Arg)
c.3881C>G (p.Pro1294Arg)
c.3875C>G (p.Pro1292Arg)
c.3443C>G (p.Pro1148Arg)
c.3743C>G (p.Pro1248Arg)
n.4194C>G
9g.104814219G>TCA374317745ABCA1c.3800C>A (p.Pro1267Gln)
c.3806C>A (p.Pro1269Gln)
c.3626C>A (p.Pro1209Gln)
c.3881C>A (p.Pro1294Gln)
c.3875C>A (p.Pro1292Gln)
c.3443C>A (p.Pro1148Gln)
c.3743C>A (p.Pro1248Gln)
n.4194C>A
9g.104814220G>ACA374317747ABCA1c.3799C>T (p.Pro1267Ser)
c.3805C>T (p.Pro1269Ser)
c.3625C>T (p.Pro1209Ser)
c.3880C>T (p.Pro1294Ser)
c.3874C>T (p.Pro1292Ser)
c.3442C>T (p.Pro1148Ser)
c.3742C>T (p.Pro1248Ser)
n.4193C>T
 COSMIC
9g.104814220G>CCA374317749ABCA1c.3799C>G (p.Pro1267Ala)
c.3805C>G (p.Pro1269Ala)
c.3625C>G (p.Pro1209Ala)
c.3880C>G (p.Pro1294Ala)
c.3874C>G (p.Pro1292Ala)
c.3442C>G (p.Pro1148Ala)
c.3742C>G (p.Pro1248Ala)
n.4193C>G
9g.104814220G>TCA374317748ABCA1c.3799C>A (p.Pro1267Thr)
c.3805C>A (p.Pro1269Thr)
c.3625C>A (p.Pro1209Thr)
c.3880C>A (p.Pro1294Thr)
c.3874C>A (p.Pro1292Thr)
c.3442C>A (p.Pro1148Thr)
c.3742C>A (p.Pro1248Thr)
n.4193C>A
9g.104814221C>ACA374317750ABCA1c.3798G>T (p.Leu1266Phe)
c.3804G>T (p.Leu1268Phe)
c.3624G>T (p.Leu1208Phe)
c.3879G>T (p.Leu1293Phe)
c.3873G>T (p.Leu1291Phe)
c.3441G>T (p.Leu1147Phe)
c.3741G>T (p.Leu1247Phe)
n.4192G>T
9g.104814221C>GCA374317751ABCA1c.3798G>C (p.Leu1266Phe)
c.3804G>C (p.Leu1268Phe)
c.3624G>C (p.Leu1208Phe)
c.3879G>C (p.Leu1293Phe)
c.3873G>C (p.Leu1291Phe)
c.3441G>C (p.Leu1147Phe)
c.3741G>C (p.Leu1247Phe)
n.4192G>C
9g.104814221C>TCA466505323ABCA1c.3798G>A (p.Leu1266=)
c.3804G>A (p.Leu1268=)
c.3624G>A (p.Leu1208=)
c.3879G>A (p.Leu1293=)
c.3873G>A (p.Leu1291=)
c.3441G>A (p.Leu1147=)
c.3741G>A (p.Leu1247=)
n.4192G>A
9g.104814222A>CCA374317752ABCA1c.3797T>G (p.Leu1266Trp)
c.3803T>G (p.Leu1268Trp)
c.3623T>G (p.Leu1208Trp)
c.3878T>G (p.Leu1293Trp)
c.3872T>G (p.Leu1291Trp)
c.3440T>G (p.Leu1147Trp)
c.3740T>G (p.Leu1247Trp)
n.4191T>G
9g.104814222A>GCA374317753ABCA1c.3797T>C (p.Leu1266Ser)
c.3803T>C (p.Leu1268Ser)
c.3623T>C (p.Leu1208Ser)
c.3878T>C (p.Leu1293Ser)
c.3872T>C (p.Leu1291Ser)
c.3440T>C (p.Leu1147Ser)
c.3740T>C (p.Leu1247Ser)
n.4191T>C
9g.104814222A>TCA374317754ABCA1c.3797T>A (p.Leu1266Ter)
c.3803T>A (p.Leu1268Ter)
c.3623T>A (p.Leu1208Ter)
c.3878T>A (p.Leu1293Ter)
c.3872T>A (p.Leu1291Ter)
c.3440T>A (p.Leu1147Ter)
c.3740T>A (p.Leu1247Ter)
n.4191T>A
9g.104814223A>CCA374317755ABCA1c.3796T>G (p.Leu1266Val)
c.3802T>G (p.Leu1268Val)
c.3622T>G (p.Leu1208Val)
c.3877T>G (p.Leu1293Val)
c.3871T>G (p.Leu1291Val)
c.3439T>G (p.Leu1147Val)
c.3739T>G (p.Leu1247Val)
n.4190T>G
9g.104814223A>GCA466505324ABCA1c.3796T>C (p.Leu1266=)
c.3802T>C (p.Leu1268=)
c.3622T>C (p.Leu1208=)
c.3877T>C (p.Leu1293=)
c.3871T>C (p.Leu1291=)
c.3439T>C (p.Leu1147=)
c.3739T>C (p.Leu1247=)
n.4190T>C
9g.104814223A>TCA374317756ABCA1c.3796T>A (p.Leu1266Met)
c.3802T>A (p.Leu1268Met)
c.3622T>A (p.Leu1208Met)
c.3877T>A (p.Leu1293Met)
c.3871T>A (p.Leu1291Met)
c.3439T>A (p.Leu1147Met)
c.3739T>A (p.Leu1247Met)
n.4190T>A
9g.104814224G>ACA466505327ABCA1c.3795C>T (p.Thr1265=)
c.3801C>T (p.Thr1267=)
c.3621C>T (p.Thr1207=)
c.3876C>T (p.Thr1292=)
c.3870C>T (p.Thr1290=)
c.3438C>T (p.Thr1146=)
c.3738C>T (p.Thr1246=)
n.4189C>T
 gnomAD v4
9g.104814224G>CCA466505326ABCA1c.3795C>G (p.Thr1265=)
c.3801C>G (p.Thr1267=)
c.3621C>G (p.Thr1207=)
c.3876C>G (p.Thr1292=)
c.3870C>G (p.Thr1290=)
c.3438C>G (p.Thr1146=)
c.3738C>G (p.Thr1246=)
n.4189C>G
9g.104814224G>TCA466505325ABCA1c.3795C>A (p.Thr1265=)
c.3801C>A (p.Thr1267=)
c.3621C>A (p.Thr1207=)
c.3876C>A (p.Thr1292=)
c.3870C>A (p.Thr1290=)
c.3438C>A (p.Thr1146=)
c.3738C>A (p.Thr1246=)
n.4189C>A
9g.104814225G>ACA374317757ABCA1c.3794C>T (p.Thr1265Ile)
c.3800C>T (p.Thr1267Ile)
c.3620C>T (p.Thr1207Ile)
c.3875C>T (p.Thr1292Ile)
c.3869C>T (p.Thr1290Ile)
c.3437C>T (p.Thr1146Ile)
c.3737C>T (p.Thr1246Ile)
n.4188C>T
9g.104814225G>CCA374317758ABCA1c.3794C>G (p.Thr1265Ser)
c.3800C>G (p.Thr1267Ser)
c.3620C>G (p.Thr1207Ser)
c.3875C>G (p.Thr1292Ser)
c.3869C>G (p.Thr1290Ser)
c.3437C>G (p.Thr1146Ser)
c.3737C>G (p.Thr1246Ser)
n.4188C>G
9g.104814225G>TCA374317759ABCA1c.3794C>A (p.Thr1265Asn)
c.3800C>A (p.Thr1267Asn)
c.3620C>A (p.Thr1207Asn)
c.3875C>A (p.Thr1292Asn)
c.3869C>A (p.Thr1290Asn)
c.3437C>A (p.Thr1146Asn)
c.3737C>A (p.Thr1246Asn)
n.4188C>A
9g.104814226T>ACA374317760ABCA1c.3793A>T (p.Thr1265Ser)
c.3799A>T (p.Thr1267Ser)
c.3619A>T (p.Thr1207Ser)
c.3874A>T (p.Thr1292Ser)
c.3868A>T (p.Thr1290Ser)
c.3436A>T (p.Thr1146Ser)
c.3736A>T (p.Thr1246Ser)
n.4187A>T
9g.104814226T>CCA5168321ABCA1c.3793A>G (p.Thr1265Ala)
c.3799A>G (p.Thr1267Ala)
c.3619A>G (p.Thr1207Ala)
c.3874A>G (p.Thr1292Ala)
c.3868A>G (p.Thr1290Ala)
c.3436A>G (p.Thr1146Ala)
c.3736A>G (p.Thr1246Ala)
n.4187A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814226T>GCA374317761ABCA1c.3793A>C (p.Thr1265Pro)
c.3799A>C (p.Thr1267Pro)
c.3619A>C (p.Thr1207Pro)
c.3874A>C (p.Thr1292Pro)
c.3868A>C (p.Thr1290Pro)
c.3436A>C (p.Thr1146Pro)
c.3736A>C (p.Thr1246Pro)
n.4187A>C
9g.104814226T=CA1869941476ABCA1c.3793A= (p.Thr1265=)
c.3799A= (p.Thr1267=)
c.3619A= (p.Thr1207=)
c.3874A= (p.Thr1292=)
c.3868A= (p.Thr1290=)
c.3436A= (p.Thr1146=)
c.3736A= (p.Thr1246=)
n.4187A=
9g.104814227A>CCA466505328ABCA1c.3792T>G (p.Gly1264=)
c.3798T>G (p.Gly1266=)
c.3618T>G (p.Gly1206=)
c.3873T>G (p.Gly1291=)
c.3867T>G (p.Gly1289=)
c.3435T>G (p.Gly1145=)
c.3735T>G (p.Gly1245=)
n.4186T>G
9g.104814227A>GCA466505329ABCA1c.3792T>C (p.Gly1264=)
c.3798T>C (p.Gly1266=)
c.3618T>C (p.Gly1206=)
c.3873T>C (p.Gly1291=)
c.3867T>C (p.Gly1289=)
c.3435T>C (p.Gly1145=)
c.3735T>C (p.Gly1245=)
n.4186T>C
9g.104814227A>TCA466505330ABCA1c.3792T>A (p.Gly1264=)
c.3798T>A (p.Gly1266=)
c.3618T>A (p.Gly1206=)
c.3873T>A (p.Gly1291=)
c.3867T>A (p.Gly1289=)
c.3435T>A (p.Gly1145=)
c.3735T>A (p.Gly1245=)
n.4186T>A
9g.104814228C>ACA374317764ABCA1c.3791G>T (p.Gly1264Val)
c.3797G>T (p.Gly1266Val)
c.3617G>T (p.Gly1206Val)
c.3872G>T (p.Gly1291Val)
c.3866G>T (p.Gly1289Val)
c.3434G>T (p.Gly1145Val)
c.3734G>T (p.Gly1245Val)
n.4185G>T
9g.104814228C>GCA374317763ABCA1c.3791G>C (p.Gly1264Ala)
c.3797G>C (p.Gly1266Ala)
c.3617G>C (p.Gly1206Ala)
c.3872G>C (p.Gly1291Ala)
c.3866G>C (p.Gly1289Ala)
c.3434G>C (p.Gly1145Ala)
c.3734G>C (p.Gly1245Ala)
n.4185G>C
9g.104814228C>TCA374317762ABCA1c.3791G>A (p.Gly1264Asp)
c.3797G>A (p.Gly1266Asp)
c.3617G>A (p.Gly1206Asp)
c.3872G>A (p.Gly1291Asp)
c.3866G>A (p.Gly1289Asp)
c.3434G>A (p.Gly1145Asp)
c.3734G>A (p.Gly1245Asp)
n.4185G>A
9g.104814229C>ACA374317765ABCA1c.3790G>T (p.Gly1264Cys)
c.3796G>T (p.Gly1266Cys)
c.3616G>T (p.Gly1206Cys)
c.3871G>T (p.Gly1291Cys)
c.3865G>T (p.Gly1289Cys)
c.3433G>T (p.Gly1145Cys)
c.3733G>T (p.Gly1245Cys)
n.4184G>T
9g.104814229C>GCA374317766ABCA1c.3790G>C (p.Gly1264Arg)
c.3796G>C (p.Gly1266Arg)
c.3616G>C (p.Gly1206Arg)
c.3871G>C (p.Gly1291Arg)
c.3865G>C (p.Gly1289Arg)
c.3433G>C (p.Gly1145Arg)
c.3733G>C (p.Gly1245Arg)
n.4184G>C
9g.104814229C>TCA374317767ABCA1c.3790G>A (p.Gly1264Ser)
c.3796G>A (p.Gly1266Ser)
c.3616G>A (p.Gly1206Ser)
c.3871G>A (p.Gly1291Ser)
c.3865G>A (p.Gly1289Ser)
c.3433G>A (p.Gly1145Ser)
c.3733G>A (p.Gly1245Ser)
n.4184G>A
 ClinVar
9g.104814230A=CA1869941478ABCA1c.3789T= (p.Asp1263=)
c.3795T= (p.Asp1265=)
c.3615T= (p.Asp1205=)
c.3870T= (p.Asp1290=)
c.3864T= (p.Asp1288=)
c.3432T= (p.Asp1144=)
c.3732T= (p.Asp1244=)
n.4183T=
9g.104814230A>CCA197378281ABCA1c.3789T>G (p.Asp1263Glu)
c.3795T>G (p.Asp1265Glu)
c.3615T>G (p.Asp1205Glu)
c.3870T>G (p.Asp1290Glu)
c.3864T>G (p.Asp1288Glu)
c.3432T>G (p.Asp1144Glu)
c.3732T>G (p.Asp1244Glu)
n.4183T>G
 dbSNP
9g.104814230A>GCA466505331ABCA1c.3789T>C (p.Asp1263=)
c.3795T>C (p.Asp1265=)
c.3615T>C (p.Asp1205=)
c.3870T>C (p.Asp1290=)
c.3864T>C (p.Asp1288=)
c.3432T>C (p.Asp1144=)
c.3732T>C (p.Asp1244=)
n.4183T>C
9g.104814230A>TCA374317768ABCA1c.3789T>A (p.Asp1263Glu)
c.3795T>A (p.Asp1265Glu)
c.3615T>A (p.Asp1205Glu)
c.3870T>A (p.Asp1290Glu)
c.3864T>A (p.Asp1288Glu)
c.3432T>A (p.Asp1144Glu)
c.3732T>A (p.Asp1244Glu)
n.4183T>A
9g.104814231T>ACA374317769ABCA1c.3788A>T (p.Asp1263Val)
c.3794A>T (p.Asp1265Val)
c.3614A>T (p.Asp1205Val)
c.3869A>T (p.Asp1290Val)
c.3863A>T (p.Asp1288Val)
c.3431A>T (p.Asp1144Val)
c.3731A>T (p.Asp1244Val)
n.4182A>T
9g.104814231T>CCA374317770ABCA1c.3788A>G (p.Asp1263Gly)
c.3794A>G (p.Asp1265Gly)
c.3614A>G (p.Asp1205Gly)
c.3869A>G (p.Asp1290Gly)
c.3863A>G (p.Asp1288Gly)
c.3431A>G (p.Asp1144Gly)
c.3731A>G (p.Asp1244Gly)
n.4182A>G
 gnomAD v4
9g.104814231T>GCA374317771ABCA1c.3788A>C (p.Asp1263Ala)
c.3794A>C (p.Asp1265Ala)
c.3614A>C (p.Asp1205Ala)
c.3869A>C (p.Asp1290Ala)
c.3863A>C (p.Asp1288Ala)
c.3431A>C (p.Asp1144Ala)
c.3731A>C (p.Asp1244Ala)
n.4182A>C
9g.104814232C>ACA374317772ABCA1c.3788-1G>T (n.3788-1G>T)
c.3794-1G>T (n.3794-1G>T)
c.3614-1G>T (n.3614-1G>T)
c.3869-1G>T (n.3869-1G>T)
c.3863-1G>T (n.3863-1G>T)
c.3431-1G>T (n.3431-1G>T)
c.3731-1G>T (n.3731-1G>T)
n.4182-1G>T
9g.104814232C>GCA374317773ABCA1c.3788-1G>C (n.3788-1G>C)
c.3794-1G>C (n.3794-1G>C)
c.3614-1G>C (n.3614-1G>C)
c.3869-1G>C (n.3869-1G>C)
c.3863-1G>C (n.3863-1G>C)
c.3431-1G>C (n.3431-1G>C)
c.3731-1G>C (n.3731-1G>C)
n.4182-1G>C
9g.104814232C>TCA374317774ABCA1c.3788-1G>A (n.3788-1G>A)
c.3794-1G>A (n.3794-1G>A)
c.3614-1G>A (n.3614-1G>A)
c.3869-1G>A (n.3869-1G>A)
c.3863-1G>A (n.3863-1G>A)
c.3431-1G>A (n.3431-1G>A)
c.3731-1G>A (n.3731-1G>A)
n.4182-1G>A
9g.104814233T>ACA374317777ABCA1c.3788-2A>T (n.3788-2A>T)
c.3794-2A>T (n.3794-2A>T)
c.3614-2A>T (n.3614-2A>T)
c.3869-2A>T (n.3869-2A>T)
c.3863-2A>T (n.3863-2A>T)
c.3431-2A>T (n.3431-2A>T)
c.3731-2A>T (n.3731-2A>T)
n.4182-2A>T
9g.104814233T>CCA374317776ABCA1c.3788-2A>G (n.3788-2A>G)
c.3794-2A>G (n.3794-2A>G)
c.3614-2A>G (n.3614-2A>G)
c.3869-2A>G (n.3869-2A>G)
c.3863-2A>G (n.3863-2A>G)
c.3431-2A>G (n.3431-2A>G)
c.3731-2A>G (n.3731-2A>G)
n.4182-2A>G
9g.104814233T>GCA374317775ABCA1c.3788-2A>C (n.3788-2A>C)
c.3794-2A>C (n.3794-2A>C)
c.3614-2A>C (n.3614-2A>C)
c.3869-2A>C (n.3869-2A>C)
c.3863-2A>C (n.3863-2A>C)
c.3431-2A>C (n.3431-2A>C)
c.3731-2A>C (n.3731-2A>C)
n.4182-2A>C
9g.104814234G>ACA590046440ABCA1c.3788-3C>T (n.3788-3C>T)
c.3794-3C>T (n.3794-3C>T)
c.3614-3C>T (n.3614-3C>T)
c.3869-3C>T (n.3869-3C>T)
c.3863-3C>T (n.3863-3C>T)
c.3431-3C>T (n.3431-3C>T)
c.3731-3C>T (n.3731-3C>T)
n.4182-3C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104814234G=CA1869941479ABCA1c.3788-3C= (n.3788-3C=)
c.3794-3C= (n.3794-3C=)
c.3614-3C= (n.3614-3C=)
c.3869-3C= (n.3869-3C=)
c.3863-3C= (n.3863-3C=)
c.3431-3C= (n.3431-3C=)
c.3731-3C= (n.3731-3C=)
n.4182-3C=
9g.104814235A=CA1869941481ABCA1c.3788-4T= (n.3788-4T=)
c.3794-4T= (n.3794-4T=)
c.3614-4T= (n.3614-4T=)
c.3869-4T= (n.3869-4T=)
c.3863-4T= (n.3863-4T=)
c.3431-4T= (n.3431-4T=)
c.3731-4T= (n.3731-4T=)
n.4182-4T=
9g.104814235A>CCA1127655736ABCA1c.3788-4T>G (n.3788-4T>G)
c.3794-4T>G (n.3794-4T>G)
c.3614-4T>G (n.3614-4T>G)
c.3869-4T>G (n.3869-4T>G)
c.3863-4T>G (n.3863-4T>G)
c.3431-4T>G (n.3431-4T>G)
c.3731-4T>G (n.3731-4T>G)
n.4182-4T>G
 dbSNP gnomAD v3 gnomAD v4
9g.104814235A>TCA2573143709ABCA1c.3788-4T>A (n.3788-4T>A)
c.3794-4T>A (n.3794-4T>A)
c.3614-4T>A (n.3614-4T>A)
c.3869-4T>A (n.3869-4T>A)
c.3863-4T>A (n.3863-4T>A)
c.3431-4T>A (n.3431-4T>A)
c.3731-4T>A (n.3731-4T>A)
n.4182-4T>A
 ClinVar dbSNP
9g.104814237G>ACA5168322ABCA1c.3788-6C>T (n.3788-6C>T)
c.3794-6C>T (n.3794-6C>T)
c.3614-6C>T (n.3614-6C>T)
c.3869-6C>T (n.3869-6C>T)
c.3863-6C>T (n.3863-6C>T)
c.3431-6C>T (n.3431-6C>T)
c.3731-6C>T (n.3731-6C>T)
n.4182-6C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814237G=CA1869941485ABCA1c.3788-6C= (n.3788-6C=)
c.3794-6C= (n.3794-6C=)
c.3614-6C= (n.3614-6C=)
c.3869-6C= (n.3869-6C=)
c.3863-6C= (n.3863-6C=)
c.3431-6C= (n.3431-6C=)
c.3731-6C= (n.3731-6C=)
n.4182-6C=
9g.104814238G>ACA590046441ABCA1c.3788-7C>T (n.3788-7C>T)
c.3794-7C>T (n.3794-7C>T)
c.3614-7C>T (n.3614-7C>T)
c.3869-7C>T (n.3869-7C>T)
c.3863-7C>T (n.3863-7C>T)
c.3431-7C>T (n.3431-7C>T)
c.3731-7C>T (n.3731-7C>T)
n.4182-7C>T
 dbSNP gnomAD v2
9g.104814238G>CCA590046442ABCA1c.3788-7C>G (n.3788-7C>G)
c.3794-7C>G (n.3794-7C>G)
c.3614-7C>G (n.3614-7C>G)
c.3869-7C>G (n.3869-7C>G)
c.3863-7C>G (n.3863-7C>G)
c.3431-7C>G (n.3431-7C>G)
c.3731-7C>G (n.3731-7C>G)
n.4182-7C>G
 dbSNP gnomAD v2 gnomAD v4
9g.104814238G=CA1869941489ABCA1c.3788-7C= (n.3788-7C=)
c.3794-7C= (n.3794-7C=)
c.3614-7C= (n.3614-7C=)
c.3869-7C= (n.3869-7C=)
c.3863-7C= (n.3863-7C=)
c.3431-7C= (n.3431-7C=)
c.3731-7C= (n.3731-7C=)
n.4182-7C=
9g.104814238G>TCA5168323ABCA1c.3788-7C>A (n.3788-7C>A)
c.3794-7C>A (n.3794-7C>A)
c.3614-7C>A (n.3614-7C>A)
c.3869-7C>A (n.3869-7C>A)
c.3863-7C>A (n.3863-7C>A)
c.3431-7C>A (n.3431-7C>A)
c.3731-7C>A (n.3731-7C>A)
n.4182-7C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104814239C>ACA197378325ABCA1c.3788-8G>T (n.3788-8G>T)
c.3794-8G>T (n.3794-8G>T)
c.3614-8G>T (n.3614-8G>T)
c.3869-8G>T (n.3869-8G>T)
c.3863-8G>T (n.3863-8G>T)
c.3431-8G>T (n.3431-8G>T)
c.3731-8G>T (n.3731-8G>T)
n.4182-8G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104814239C=CA1869941492ABCA1c.3788-8G= (n.3788-8G=)
c.3794-8G= (n.3794-8G=)
c.3614-8G= (n.3614-8G=)
c.3869-8G= (n.3869-8G=)
c.3863-8G= (n.3863-8G=)
c.3431-8G= (n.3431-8G=)
c.3731-8G= (n.3731-8G=)
n.4182-8G=
9g.104814242A>GCA2579406329ABCA1c.3788-11T>C (n.3788-11T>C)
c.3794-11T>C (n.3794-11T>C)
c.3614-11T>C (n.3614-11T>C)
c.3869-11T>C (n.3869-11T>C)
c.3863-11T>C (n.3863-11T>C)
c.3431-11T>C (n.3431-11T>C)
c.3731-11T>C (n.3731-11T>C)
n.4182-11T>C
9g.104814244G>ACA2580079478ABCA1c.3788-13C>T (n.3788-13C>T)
c.3794-13C>T (n.3794-13C>T)
c.3614-13C>T (n.3614-13C>T)
c.3869-13C>T (n.3869-13C>T)
c.3863-13C>T (n.3863-13C>T)
c.3431-13C>T (n.3431-13C>T)
c.3731-13C>T (n.3731-13C>T)
n.4182-13C>T
 ClinVar gnomAD v4
9g.104814245G>ACA2691052430ABCA1c.3788-14C>T (n.3788-14C>T)
c.3794-14C>T (n.3794-14C>T)
c.3614-14C>T (n.3614-14C>T)
c.3869-14C>T (n.3869-14C>T)
c.3863-14C>T (n.3863-14C>T)
c.3431-14C>T (n.3431-14C>T)
c.3731-14C>T (n.3731-14C>T)
n.4182-14C>T
 gnomAD v4
9g.104814249_104814250delinsGACA1869941493ABCA1c.3788-19_3788-18delinsTC (n.3788-19_3788-18delinsTC)
c.3794-19_3794-18delinsTC (n.3794-19_3794-18delinsTC)
c.3614-19_3614-18delinsTC (n.3614-19_3614-18delinsTC)
c.3869-19_3869-18delinsTC (n.3869-19_3869-18delinsTC)
c.3863-19_3863-18delinsTC (n.3863-19_3863-18delinsTC)
c.3431-19_3431-18delinsTC (n.3431-19_3431-18delinsTC)
c.3731-19_3731-18delinsTC (n.3731-19_3731-18delinsTC)
n.4182-19_4182-18delinsTC
9g.104814251delCA5168324ABCA1c.3788-19del (n.3788-19del)
c.3794-19del (n.3794-19del)
c.3614-19del (n.3614-19del)
c.3869-19del (n.3869-19del)
c.3863-19del (n.3863-19del)
c.3431-19del (n.3431-19del)
c.3731-19del (n.3731-19del)
n.4182-19del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.104814253C>ACA5168325ABCA1c.3788-22G>T (n.3788-22G>T)
c.3794-22G>T (n.3794-22G>T)
c.3614-22G>T (n.3614-22G>T)
c.3869-22G>T (n.3869-22G>T)
c.3863-22G>T (n.3863-22G>T)
c.3431-22G>T (n.3431-22G>T)
c.3731-22G>T (n.3731-22G>T)
n.4182-22G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104814253C=CA1869941497ABCA1c.3788-22G= (n.3788-22G=)
c.3794-22G= (n.3794-22G=)
c.3614-22G= (n.3614-22G=)
c.3869-22G= (n.3869-22G=)
c.3863-22G= (n.3863-22G=)
c.3431-22G= (n.3431-22G=)
c.3731-22G= (n.3731-22G=)
n.4182-22G=
9g.104814254C>TCA2691052431ABCA1c.3788-23G>A (n.3788-23G>A)
c.3794-23G>A (n.3794-23G>A)
c.3614-23G>A (n.3614-23G>A)
c.3869-23G>A (n.3869-23G>A)
c.3863-23G>A (n.3863-23G>A)
c.3431-23G>A (n.3431-23G>A)
c.3731-23G>A (n.3731-23G>A)
n.4182-23G>A
 gnomAD v4

Number of alleles fetched