Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104818833C>ACA374318927ABCA1c.3292G>T (p.Gly1098Trp)
c.3112G>T (p.Gly1038Trp)
c.3367G>T (p.Gly1123Trp)
c.2929G>T (p.Gly977Trp)
c.3229G>T (p.Gly1077Trp)
n.3680G>T
9g.104818833C>GCA374318929ABCA1c.3292G>C (p.Gly1098Arg)
c.3112G>C (p.Gly1038Arg)
c.3367G>C (p.Gly1123Arg)
c.2929G>C (p.Gly977Arg)
c.3229G>C (p.Gly1077Arg)
n.3680G>C
9g.104818833C>TCA374318931ABCA1c.3292G>A (p.Gly1098Arg)
c.3112G>A (p.Gly1038Arg)
c.3367G>A (p.Gly1123Arg)
c.2929G>A (p.Gly977Arg)
c.3229G>A (p.Gly1077Arg)
n.3680G>A
9g.104818834C>ACA466506051ABCA1c.3291G>T (p.Leu1097=)
c.3111G>T (p.Leu1037=)
c.3366G>T (p.Leu1122=)
c.2928G>T (p.Leu976=)
c.3228G>T (p.Leu1076=)
n.3679G>T
9g.104818834C=CA1869947905ABCA1c.3291G= (p.Leu1097=)
c.3111G= (p.Leu1037=)
c.3366G= (p.Leu1122=)
c.2928G= (p.Leu976=)
c.3228G= (p.Leu1076=)
n.3679G=
9g.104818834C>GCA466506052ABCA1c.3291G>C (p.Leu1097=)
c.3111G>C (p.Leu1037=)
c.3366G>C (p.Leu1122=)
c.2928G>C (p.Leu976=)
c.3228G>C (p.Leu1076=)
n.3679G>C
9g.104818834C>TCA197383231ABCA1c.3291G>A (p.Leu1097=)
c.3111G>A (p.Leu1037=)
c.3366G>A (p.Leu1122=)
c.2928G>A (p.Leu976=)
c.3228G>A (p.Leu1076=)
n.3679G>A
dbSNP gnomAD v4
9g.104818835A>CCA374318934ABCA1c.3290T>G (p.Leu1097Arg)
c.3110T>G (p.Leu1037Arg)
c.3365T>G (p.Leu1122Arg)
c.2927T>G (p.Leu976Arg)
c.3227T>G (p.Leu1076Arg)
n.3678T>G
9g.104818835A>GCA374318936ABCA1c.3290T>C (p.Leu1097Pro)
c.3110T>C (p.Leu1037Pro)
c.3365T>C (p.Leu1122Pro)
c.2927T>C (p.Leu976Pro)
c.3227T>C (p.Leu1076Pro)
n.3678T>C
9g.104818835A>TCA374318938ABCA1c.3290T>A (p.Leu1097Gln)
c.3110T>A (p.Leu1037Gln)
c.3365T>A (p.Leu1122Gln)
c.2927T>A (p.Leu976Gln)
c.3227T>A (p.Leu1076Gln)
n.3678T>A
9g.104818836G>ACA466506053ABCA1c.3289C>T (p.Leu1097=)
c.3109C>T (p.Leu1037=)
c.3364C>T (p.Leu1122=)
c.2926C>T (p.Leu976=)
c.3226C>T (p.Leu1076=)
n.3677C>T
9g.104818836G>CCA374318940ABCA1c.3289C>G (p.Leu1097Val)
c.3109C>G (p.Leu1037Val)
c.3364C>G (p.Leu1122Val)
c.2926C>G (p.Leu976Val)
c.3226C>G (p.Leu1076Val)
n.3677C>G
9g.104818836G>TCA374318942ABCA1c.3289C>A (p.Leu1097Met)
c.3109C>A (p.Leu1037Met)
c.3364C>A (p.Leu1122Met)
c.2926C>A (p.Leu976Met)
c.3226C>A (p.Leu1076Met)
n.3677C>A
9g.104818837G>ACA197383241ABCA1c.3288C>T (p.Val1096=)
c.3108C>T (p.Val1036=)
c.3363C>T (p.Val1121=)
c.2925C>T (p.Val975=)
c.3225C>T (p.Val1075=)
n.3676C>T
ClinVar dbSNP
9g.104818837G>CCA466506054ABCA1c.3288C>G (p.Val1096=)
c.3108C>G (p.Val1036=)
c.3363C>G (p.Val1121=)
c.2925C>G (p.Val975=)
c.3225C>G (p.Val1075=)
n.3676C>G
9g.104818837G=CA1869947913ABCA1c.3288C= (p.Val1096=)
c.3108C= (p.Val1036=)
c.3363C= (p.Val1121=)
c.2925C= (p.Val975=)
c.3225C= (p.Val1075=)
n.3676C=
9g.104818837G>TCA5168471ABCA1c.3288C>A (p.Val1096=)
c.3108C>A (p.Val1036=)
c.3363C>A (p.Val1121=)
c.2925C>A (p.Val975=)
c.3225C>A (p.Val1075=)
n.3676C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.104818838A>CCA374318963ABCA1c.3287T>G (p.Val1096Gly)
c.3107T>G (p.Val1036Gly)
c.3362T>G (p.Val1121Gly)
c.2924T>G (p.Val975Gly)
c.3224T>G (p.Val1075Gly)
n.3675T>G
9g.104818838A>GCA374318949ABCA1c.3287T>C (p.Val1096Ala)
c.3107T>C (p.Val1036Ala)
c.3362T>C (p.Val1121Ala)
c.2924T>C (p.Val975Ala)
c.3224T>C (p.Val1075Ala)
n.3675T>C
9g.104818838A>TCA374318945ABCA1c.3287T>A (p.Val1096Asp)
c.3107T>A (p.Val1036Asp)
c.3362T>A (p.Val1121Asp)
c.2924T>A (p.Val975Asp)
c.3224T>A (p.Val1075Asp)
n.3675T>A
9g.104818839C>ACA374318965ABCA1c.3286G>T (p.Val1096Phe)
c.3106G>T (p.Val1036Phe)
c.3361G>T (p.Val1121Phe)
c.2923G>T (p.Val975Phe)
c.3223G>T (p.Val1075Phe)
n.3674G>T
9g.104818839C=CA1869947924ABCA1c.3286G= (p.Val1096=)
c.3106G= (p.Val1036=)
c.3361G= (p.Val1121=)
c.2923G= (p.Val975=)
c.3223G= (p.Val1075=)
n.3674G=
9g.104818839C>GCA374318967ABCA1c.3286G>C (p.Val1096Leu)
c.3106G>C (p.Val1036Leu)
c.3361G>C (p.Val1121Leu)
c.2923G>C (p.Val975Leu)
c.3223G>C (p.Val1075Leu)
n.3674G>C
9g.104818839C>TCA5168472ABCA1c.3286G>A (p.Val1096Ile)
c.3106G>A (p.Val1036Ile)
c.3361G>A (p.Val1121Ile)
c.2923G>A (p.Val975Ile)
c.3223G>A (p.Val1075Ile)
n.3674G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818840G>ACA5168473ABCA1c.3285C>T (p.Asp1095=)
c.3105C>T (p.Asp1035=)
c.3360C>T (p.Asp1120=)
c.2922C>T (p.Asp974=)
c.3222C>T (p.Asp1074=)
n.3673C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818840G>CCA374318972ABCA1c.3285C>G (p.Asp1095Glu)
c.3105C>G (p.Asp1035Glu)
c.3360C>G (p.Asp1120Glu)
c.2922C>G (p.Asp974Glu)
c.3222C>G (p.Asp1074Glu)
n.3673C>G
9g.104818840G=CA1869947937ABCA1c.3285C= (p.Asp1095=)
c.3105C= (p.Asp1035=)
c.3360C= (p.Asp1120=)
c.2922C= (p.Asp974=)
c.3222C= (p.Asp1074=)
n.3673C=
9g.104818840G>TCA374318973ABCA1c.3285C>A (p.Asp1095Glu)
c.3105C>A (p.Asp1035Glu)
c.3360C>A (p.Asp1120Glu)
c.2922C>A (p.Asp974Glu)
c.3222C>A (p.Asp1074Glu)
n.3673C>A
9g.104818841T>ACA374318976ABCA1c.3284A>T (p.Asp1095Val)
c.3104A>T (p.Asp1035Val)
c.3359A>T (p.Asp1120Val)
c.2921A>T (p.Asp974Val)
c.3221A>T (p.Asp1074Val)
n.3672A>T
9g.104818841T>CCA374318978ABCA1c.3284A>G (p.Asp1095Gly)
c.3104A>G (p.Asp1035Gly)
c.3359A>G (p.Asp1120Gly)
c.2921A>G (p.Asp974Gly)
c.3221A>G (p.Asp1074Gly)
n.3672A>G
9g.104818841T>GCA374318979ABCA1c.3284A>C (p.Asp1095Ala)
c.3104A>C (p.Asp1035Ala)
c.3359A>C (p.Asp1120Ala)
c.2921A>C (p.Asp974Ala)
c.3221A>C (p.Asp1074Ala)
n.3672A>C
9g.104818842C>ACA374318982ABCA1c.3283G>T (p.Asp1095Tyr)
c.3103G>T (p.Asp1035Tyr)
c.3358G>T (p.Asp1120Tyr)
c.2920G>T (p.Asp974Tyr)
c.3220G>T (p.Asp1074Tyr)
n.3671G>T
9g.104818842C>GCA374318984ABCA1c.3283G>C (p.Asp1095His)
c.3103G>C (p.Asp1035His)
c.3358G>C (p.Asp1120His)
c.2920G>C (p.Asp974His)
c.3220G>C (p.Asp1074His)
n.3671G>C
9g.104818842C>TCA374318985ABCA1c.3283G>A (p.Asp1095Asn)
c.3103G>A (p.Asp1035Asn)
c.3358G>A (p.Asp1120Asn)
c.2920G>A (p.Asp974Asn)
c.3220G>A (p.Asp1074Asn)
n.3671G>A
gnomAD v4
9g.104818843dupCA2695203285ABCA1c.3283dup (p.Asp1095GlyfsTer?)
c.3103dup (p.Asp1035GlyfsTer?)
c.3358dup (p.Asp1120GlyfsTer?)
c.2920dup (p.Asp974GlyfsTer?)
c.3220dup (p.Asp1074GlyfsTer?)
n.3671dup
9g.104818843C>ACA466506055ABCA1c.3282G>T (p.Ala1094=)
c.3102G>T (p.Ala1034=)
c.3357G>T (p.Ala1119=)
c.2919G>T (p.Ala973=)
c.3219G>T (p.Ala1073=)
n.3670G>T
gnomAD v4
9g.104818843C=CA1869947945ABCA1c.3282G= (p.Ala1094=)
c.3102G= (p.Ala1034=)
c.3357G= (p.Ala1119=)
c.2919G= (p.Ala973=)
c.3219G= (p.Ala1073=)
n.3670G=
9g.104818843C>GCA466506056ABCA1c.3282G>C (p.Ala1094=)
c.3102G>C (p.Ala1034=)
c.3357G>C (p.Ala1119=)
c.2919G>C (p.Ala973=)
c.3219G>C (p.Ala1073=)
n.3670G>C
9g.104818843C>TCA466506057ABCA1c.3282G>A (p.Ala1094=)
c.3102G>A (p.Ala1034=)
c.3357G>A (p.Ala1119=)
c.2919G>A (p.Ala973=)
c.3219G>A (p.Ala1073=)
n.3670G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104818844G>ACA374318992ABCA1c.3281C>T (p.Ala1094Val)
c.3101C>T (p.Ala1034Val)
c.3356C>T (p.Ala1119Val)
c.2918C>T (p.Ala973Val)
c.3218C>T (p.Ala1073Val)
n.3669C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104818844G>CCA374318990ABCA1c.3281C>G (p.Ala1094Gly)
c.3101C>G (p.Ala1034Gly)
c.3356C>G (p.Ala1119Gly)
c.2918C>G (p.Ala973Gly)
c.3218C>G (p.Ala1073Gly)
n.3669C>G
9g.104818844G=CA1869947947ABCA1c.3281C= (p.Ala1094=)
c.3101C= (p.Ala1034=)
c.3356C= (p.Ala1119=)
c.2918C= (p.Ala973=)
c.3218C= (p.Ala1073=)
n.3669C=
9g.104818844G>TCA374318988ABCA1c.3281C>A (p.Ala1094Glu)
c.3101C>A (p.Ala1034Glu)
c.3356C>A (p.Ala1119Glu)
c.2918C>A (p.Ala973Glu)
c.3218C>A (p.Ala1073Glu)
n.3669C>A
9g.104818845C>ACA374318995ABCA1c.3280G>T (p.Ala1094Ser)
c.3100G>T (p.Ala1034Ser)
c.3355G>T (p.Ala1119Ser)
c.2917G>T (p.Ala973Ser)
c.3217G>T (p.Ala1073Ser)
n.3668G>T
9g.104818845C=CA1869947950ABCA1c.3280G= (p.Ala1094=)
c.3100G= (p.Ala1034=)
c.3355G= (p.Ala1119=)
c.2917G= (p.Ala973=)
c.3217G= (p.Ala1073=)
n.3668G=
9g.104818845C>GCA374318998ABCA1c.3280G>C (p.Ala1094Pro)
c.3100G>C (p.Ala1034Pro)
c.3355G>C (p.Ala1119Pro)
c.2917G>C (p.Ala973Pro)
c.3217G>C (p.Ala1073Pro)
n.3668G>C
9g.104818845C>TCA374318996ABCA1c.3280G>A (p.Ala1094Thr)
c.3100G>A (p.Ala1034Thr)
c.3355G>A (p.Ala1119Thr)
c.2917G>A (p.Ala973Thr)
c.3217G>A (p.Ala1073Thr)
n.3668G>A
dbSNP
9g.104818846T>ACA374319000ABCA1c.3279A>T (p.Glu1093Asp)
c.3099A>T (p.Glu1033Asp)
c.3354A>T (p.Glu1118Asp)
c.2916A>T (p.Glu972Asp)
c.3216A>T (p.Glu1072Asp)
n.3667A>T
9g.104818846T>CCA466506058ABCA1c.3279A>G (p.Glu1093=)
c.3099A>G (p.Glu1033=)
c.3354A>G (p.Glu1118=)
c.2916A>G (p.Glu972=)
c.3216A>G (p.Glu1072=)
n.3667A>G
9g.104818846T>GCA374319002ABCA1c.3279A>C (p.Glu1093Asp)
c.3099A>C (p.Glu1033Asp)
c.3354A>C (p.Glu1118Asp)
c.2916A>C (p.Glu972Asp)
c.3216A>C (p.Glu1072Asp)
n.3667A>C
9g.104818847T>ACA374319004ABCA1c.3278A>T (p.Glu1093Val)
c.3098A>T (p.Glu1033Val)
c.3353A>T (p.Glu1118Val)
c.2915A>T (p.Glu972Val)
c.3215A>T (p.Glu1072Val)
n.3666A>T
9g.104818847T>CCA374319007ABCA1c.3278A>G (p.Glu1093Gly)
c.3098A>G (p.Glu1033Gly)
c.3353A>G (p.Glu1118Gly)
c.2915A>G (p.Glu972Gly)
c.3215A>G (p.Glu1072Gly)
n.3666A>G
gnomAD v4
9g.104818847T>GCA374319006ABCA1c.3278A>C (p.Glu1093Ala)
c.3098A>C (p.Glu1033Ala)
c.3353A>C (p.Glu1118Ala)
c.2915A>C (p.Glu972Ala)
c.3215A>C (p.Glu1072Ala)
n.3666A>C
9g.104818848C>ACA374319010ABCA1c.3277G>T (p.Glu1093Ter)
c.3097G>T (p.Glu1033Ter)
c.3352G>T (p.Glu1118Ter)
c.2914G>T (p.Glu972Ter)
c.3214G>T (p.Glu1072Ter)
n.3665G>T
9g.104818848C>GCA374319012ABCA1c.3277G>C (p.Glu1093Gln)
c.3097G>C (p.Glu1033Gln)
c.3352G>C (p.Glu1118Gln)
c.2914G>C (p.Glu972Gln)
c.3214G>C (p.Glu1072Gln)
n.3665G>C
9g.104818848C>TCA374319014ABCA1c.3277G>A (p.Glu1093Lys)
c.3097G>A (p.Glu1033Lys)
c.3352G>A (p.Glu1118Lys)
c.2914G>A (p.Glu972Lys)
c.3214G>A (p.Glu1072Lys)
n.3665G>A
9g.104818849A>CCA374319016ABCA1c.3276T>G (p.Asp1092Glu)
c.3096T>G (p.Asp1032Glu)
c.3351T>G (p.Asp1117Glu)
c.2913T>G (p.Asp971Glu)
c.3213T>G (p.Asp1071Glu)
n.3664T>G
9g.104818849A>GCA466506059ABCA1c.3276T>C (p.Asp1092=)
c.3096T>C (p.Asp1032=)
c.3351T>C (p.Asp1117=)
c.2913T>C (p.Asp971=)
c.3213T>C (p.Asp1071=)
n.3664T>C
ClinVar dbSNP gnomAD v4
9g.104818849A>TCA374319017ABCA1c.3276T>A (p.Asp1092Glu)
c.3096T>A (p.Asp1032Glu)
c.3351T>A (p.Asp1117Glu)
c.2913T>A (p.Asp971Glu)
c.3213T>A (p.Asp1071Glu)
n.3664T>A
9g.104818850T>ACA374319020ABCA1c.3275A>T (p.Asp1092Val)
c.3095A>T (p.Asp1032Val)
c.3350A>T (p.Asp1117Val)
c.2912A>T (p.Asp971Val)
c.3212A>T (p.Asp1071Val)
n.3663A>T
9g.104818850T>CCA374319021ABCA1c.3275A>G (p.Asp1092Gly)
c.3095A>G (p.Asp1032Gly)
c.3350A>G (p.Asp1117Gly)
c.2912A>G (p.Asp971Gly)
c.3212A>G (p.Asp1071Gly)
n.3663A>G
9g.104818850T>GCA374319023ABCA1c.3275A>C (p.Asp1092Ala)
c.3095A>C (p.Asp1032Ala)
c.3350A>C (p.Asp1117Ala)
c.2912A>C (p.Asp971Ala)
c.3212A>C (p.Asp1071Ala)
n.3663A>C
9g.104818851C>ACA374319025ABCA1c.3274G>T (p.Asp1092Tyr)
c.3094G>T (p.Asp1032Tyr)
c.3349G>T (p.Asp1117Tyr)
c.2911G>T (p.Asp971Tyr)
c.3211G>T (p.Asp1071Tyr)
n.3662G>T
dbSNP gnomAD v2 gnomAD v4
9g.104818851C=CA1869947952ABCA1c.3274G= (p.Asp1092=)
c.3094G= (p.Asp1032=)
c.3349G= (p.Asp1117=)
c.2911G= (p.Asp971=)
c.3211G= (p.Asp1071=)
n.3662G=
9g.104818851C>GCA374319027ABCA1c.3274G>C (p.Asp1092His)
c.3094G>C (p.Asp1032His)
c.3349G>C (p.Asp1117His)
c.2911G>C (p.Asp971His)
c.3211G>C (p.Asp1071His)
n.3662G>C
9g.104818851C>TCA374319029ABCA1c.3274G>A (p.Asp1092Asn)
c.3094G>A (p.Asp1032Asn)
c.3349G>A (p.Asp1117Asn)
c.2911G>A (p.Asp971Asn)
c.3211G>A (p.Asp1071Asn)
n.3662G>A
9g.104818852C>ACA374319031ABCA1c.3273G>T (p.Met1091Ile)
c.3093G>T (p.Met1031Ile)
c.3348G>T (p.Met1116Ile)
c.2910G>T (p.Met970Ile)
c.3210G>T (p.Met1070Ile)
n.3661G>T
9g.104818852C>GCA374319035ABCA1c.3273G>C (p.Met1091Ile)
c.3093G>C (p.Met1031Ile)
c.3348G>C (p.Met1116Ile)
c.2910G>C (p.Met970Ile)
c.3210G>C (p.Met1070Ile)
n.3661G>C
9g.104818852C>TCA374319033ABCA1c.3273G>A (p.Met1091Ile)
c.3093G>A (p.Met1031Ile)
c.3348G>A (p.Met1116Ile)
c.2910G>A (p.Met970Ile)
c.3210G>A (p.Met1070Ile)
n.3661G>A
9g.104818853A>CCA374319037ABCA1c.3272T>G (p.Met1091Arg)
c.3092T>G (p.Met1031Arg)
c.3347T>G (p.Met1116Arg)
c.2909T>G (p.Met970Arg)
c.3209T>G (p.Met1070Arg)
n.3660T>G
9g.104818853A>GCA374319039ABCA1c.3272T>C (p.Met1091Thr)
c.3092T>C (p.Met1031Thr)
c.3347T>C (p.Met1116Thr)
c.2909T>C (p.Met970Thr)
c.3209T>C (p.Met1070Thr)
n.3660T>C
gnomAD v4 COSMIC
9g.104818853A>TCA374319040ABCA1c.3272T>A (p.Met1091Lys)
c.3092T>A (p.Met1031Lys)
c.3347T>A (p.Met1116Lys)
c.2909T>A (p.Met970Lys)
c.3209T>A (p.Met1070Lys)
n.3660T>A
9g.104818854T>ACA374319043ABCA1c.3271A>T (p.Met1091Leu)
c.3091A>T (p.Met1031Leu)
c.3346A>T (p.Met1116Leu)
c.2908A>T (p.Met970Leu)
c.3208A>T (p.Met1070Leu)
n.3659A>T
9g.104818854T>CCA374319044ABCA1c.3271A>G (p.Met1091Val)
c.3091A>G (p.Met1031Val)
c.3346A>G (p.Met1116Val)
c.2908A>G (p.Met970Val)
c.3208A>G (p.Met1070Val)
n.3659A>G
9g.104818854T>GCA374319045ABCA1c.3271A>C (p.Met1091Leu)
c.3091A>C (p.Met1031Leu)
c.3346A>C (p.Met1116Leu)
c.2908A>C (p.Met970Leu)
c.3208A>C (p.Met1070Leu)
n.3659A>C
9g.104818855G>ACA5168474ABCA1c.3270C>T (p.His1090=)
c.3090C>T (p.His1030=)
c.3345C>T (p.His1115=)
c.2907C>T (p.His969=)
c.3207C>T (p.His1069=)
n.3658C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818855G>CCA374319049ABCA1c.3270C>G (p.His1090Gln)
c.3090C>G (p.His1030Gln)
c.3345C>G (p.His1115Gln)
c.2907C>G (p.His969Gln)
c.3207C>G (p.His1069Gln)
n.3658C>G
9g.104818855G=CA1869947962ABCA1c.3270C= (p.His1090=)
c.3090C= (p.His1030=)
c.3345C= (p.His1115=)
c.2907C= (p.His969=)
c.3207C= (p.His1069=)
n.3658C=
9g.104818855G>TCA374319051ABCA1c.3270C>A (p.His1090Gln)
c.3090C>A (p.His1030Gln)
c.3345C>A (p.His1115Gln)
c.2907C>A (p.His969Gln)
c.3207C>A (p.His1069Gln)
n.3658C>A
9g.104818856T>ACA374319055ABCA1c.3269A>T (p.His1090Leu)
c.3089A>T (p.His1030Leu)
c.3344A>T (p.His1115Leu)
c.2906A>T (p.His969Leu)
c.3206A>T (p.His1069Leu)
n.3657A>T
9g.104818856T>CCA374319057ABCA1c.3269A>G (p.His1090Arg)
c.3089A>G (p.His1030Arg)
c.3344A>G (p.His1115Arg)
c.2906A>G (p.His969Arg)
c.3206A>G (p.His1069Arg)
n.3657A>G
9g.104818856T>GCA374319053ABCA1c.3269A>C (p.His1090Pro)
c.3089A>C (p.His1030Pro)
c.3344A>C (p.His1115Pro)
c.2906A>C (p.His969Pro)
c.3206A>C (p.His1069Pro)
n.3657A>C
9g.104818857G>ACA374319060ABCA1c.3268C>T (p.His1090Tyr)
c.3088C>T (p.His1030Tyr)
c.3343C>T (p.His1115Tyr)
c.2905C>T (p.His969Tyr)
c.3205C>T (p.His1069Tyr)
n.3656C>T
9g.104818857G>CCA374319061ABCA1c.3268C>G (p.His1090Asp)
c.3088C>G (p.His1030Asp)
c.3343C>G (p.His1115Asp)
c.2905C>G (p.His969Asp)
c.3205C>G (p.His1069Asp)
n.3656C>G
9g.104818857G>TCA374319062ABCA1c.3268C>A (p.His1090Asn)
c.3088C>A (p.His1030Asn)
c.3343C>A (p.His1115Asn)
c.2905C>A (p.His969Asn)
c.3205C>A (p.His1069Asn)
n.3656C>A
9g.104818858G>ACA466506060ABCA1c.3267C>T (p.His1089=)
c.3087C>T (p.His1029=)
c.3342C>T (p.His1114=)
c.2904C>T (p.His968=)
c.3204C>T (p.His1068=)
n.3655C>T
9g.104818858G>CCA374319065ABCA1c.3267C>G (p.His1089Gln)
c.3087C>G (p.His1029Gln)
c.3342C>G (p.His1114Gln)
c.2904C>G (p.His968Gln)
c.3204C>G (p.His1068Gln)
n.3655C>G
9g.104818858G>TCA374319066ABCA1c.3267C>A (p.His1089Gln)
c.3087C>A (p.His1029Gln)
c.3342C>A (p.His1114Gln)
c.2904C>A (p.His968Gln)
c.3204C>A (p.His1068Gln)
n.3655C>A
9g.104818859T>ACA374319068ABCA1c.3266A>T (p.His1089Leu)
c.3086A>T (p.His1029Leu)
c.3341A>T (p.His1114Leu)
c.2903A>T (p.His968Leu)
c.3203A>T (p.His1068Leu)
n.3654A>T
9g.104818859T>CCA374319070ABCA1c.3266A>G (p.His1089Arg)
c.3086A>G (p.His1029Arg)
c.3341A>G (p.His1114Arg)
c.2903A>G (p.His968Arg)
c.3203A>G (p.His1068Arg)
n.3654A>G
9g.104818859T>GCA374319072ABCA1c.3266A>C (p.His1089Pro)
c.3086A>C (p.His1029Pro)
c.3341A>C (p.His1114Pro)
c.2903A>C (p.His968Pro)
c.3203A>C (p.His1068Pro)
n.3654A>C
9g.104818860G>ACA374319074ABCA1c.3265C>T (p.His1089Tyr)
c.3085C>T (p.His1029Tyr)
c.3340C>T (p.His1114Tyr)
c.2902C>T (p.His968Tyr)
c.3202C>T (p.His1068Tyr)
n.3653C>T
gnomAD v4
9g.104818860G>CCA374319076ABCA1c.3265C>G (p.His1089Asp)
c.3085C>G (p.His1029Asp)
c.3340C>G (p.His1114Asp)
c.2902C>G (p.His968Asp)
c.3202C>G (p.His1068Asp)
n.3653C>G
9g.104818860G>TCA374319078ABCA1c.3265C>A (p.His1089Asn)
c.3085C>A (p.His1029Asn)
c.3340C>A (p.His1114Asn)
c.2902C>A (p.His968Asn)
c.3202C>A (p.His1068Asn)
n.3653C>A
9g.104818861T>ACA466506061ABCA1c.3264A>T (p.Thr1088=)
c.3084A>T (p.Thr1028=)
c.3339A>T (p.Thr1113=)
c.2901A>T (p.Thr967=)
c.3201A>T (p.Thr1067=)
n.3652A>T
9g.104818861T>CCA466506063ABCA1c.3264A>G (p.Thr1088=)
c.3084A>G (p.Thr1028=)
c.3339A>G (p.Thr1113=)
c.2901A>G (p.Thr967=)
c.3201A>G (p.Thr1067=)
n.3652A>G
9g.104818861T>GCA466506062ABCA1c.3264A>C (p.Thr1088=)
c.3084A>C (p.Thr1028=)
c.3339A>C (p.Thr1113=)
c.2901A>C (p.Thr967=)
c.3201A>C (p.Thr1067=)
n.3652A>C
9g.104818862G>ACA374319082ABCA1c.3263C>T (p.Thr1088Ile)
c.3083C>T (p.Thr1028Ile)
c.3338C>T (p.Thr1113Ile)
c.2900C>T (p.Thr967Ile)
c.3200C>T (p.Thr1067Ile)
n.3651C>T
9g.104818862G>CCA374319084ABCA1c.3263C>G (p.Thr1088Arg)
c.3083C>G (p.Thr1028Arg)
c.3338C>G (p.Thr1113Arg)
c.2900C>G (p.Thr967Arg)
c.3200C>G (p.Thr1067Arg)
n.3651C>G
9g.104818862G>TCA374319080ABCA1c.3263C>A (p.Thr1088Lys)
c.3083C>A (p.Thr1028Lys)
c.3338C>A (p.Thr1113Lys)
c.2900C>A (p.Thr967Lys)
c.3200C>A (p.Thr1067Lys)
n.3651C>A
9g.104818863T>ACA374319086ABCA1c.3262A>T (p.Thr1088Ser)
c.3082A>T (p.Thr1028Ser)
c.3337A>T (p.Thr1113Ser)
c.2899A>T (p.Thr967Ser)
c.3199A>T (p.Thr1067Ser)
n.3650A>T
9g.104818863T>CCA374319088ABCA1c.3262A>G (p.Thr1088Ala)
c.3082A>G (p.Thr1028Ala)
c.3337A>G (p.Thr1113Ala)
c.2899A>G (p.Thr967Ala)
c.3199A>G (p.Thr1067Ala)
n.3650A>G
9g.104818863T>GCA374319090ABCA1c.3262A>C (p.Thr1088Pro)
c.3082A>C (p.Thr1028Pro)
c.3337A>C (p.Thr1113Pro)
c.2899A>C (p.Thr967Pro)
c.3199A>C (p.Thr1067Pro)
n.3650A>C
9g.104818864A=CA1869947966ABCA1c.3261T= (p.Ser1087=)
c.3081T= (p.Ser1027=)
c.3336T= (p.Ser1112=)
c.2898T= (p.Ser966=)
c.3198T= (p.Ser1066=)
n.3649T=
9g.104818864A>CCA466506064ABCA1c.3261T>G (p.Ser1087=)
c.3081T>G (p.Ser1027=)
c.3336T>G (p.Ser1112=)
c.2898T>G (p.Ser966=)
c.3198T>G (p.Ser1066=)
n.3649T>G
dbSNP gnomAD v3 gnomAD v4
9g.104818864A>GCA466506065ABCA1c.3261T>C (p.Ser1087=)
c.3081T>C (p.Ser1027=)
c.3336T>C (p.Ser1112=)
c.2898T>C (p.Ser966=)
c.3198T>C (p.Ser1066=)
n.3649T>C
9g.104818864A>TCA197383270ABCA1c.3261T>A (p.Ser1087=)
c.3081T>A (p.Ser1027=)
c.3336T>A (p.Ser1112=)
c.2898T>A (p.Ser966=)
c.3198T>A (p.Ser1066=)
n.3649T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104818865G>ACA374319092ABCA1c.3260C>T (p.Ser1087Phe)
c.3080C>T (p.Ser1027Phe)
c.3335C>T (p.Ser1112Phe)
c.2897C>T (p.Ser966Phe)
c.3197C>T (p.Ser1066Phe)
n.3648C>T
9g.104818865G>CCA374319094ABCA1c.3260C>G (p.Ser1087Cys)
c.3080C>G (p.Ser1027Cys)
c.3335C>G (p.Ser1112Cys)
c.2897C>G (p.Ser966Cys)
c.3197C>G (p.Ser1066Cys)
n.3648C>G
9g.104818865G>TCA374319096ABCA1c.3260C>A (p.Ser1087Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3335C>A (p.Ser1112Tyr)
c.2897C>A (p.Ser966Tyr)
c.3197C>A (p.Ser1066Tyr)
n.3648C>A
9g.104818866A>CCA374319098ABCA1c.3259T>G (p.Ser1087Ala)
c.3079T>G (p.Ser1027Ala)
c.3334T>G (p.Ser1112Ala)
c.2896T>G (p.Ser966Ala)
c.3196T>G (p.Ser1066Ala)
n.3647T>G
9g.104818866A>GCA374319102ABCA1c.3259T>C (p.Ser1087Pro)
c.3079T>C (p.Ser1027Pro)
c.3334T>C (p.Ser1112Pro)
c.2896T>C (p.Ser966Pro)
c.3196T>C (p.Ser1066Pro)
n.3647T>C
9g.104818866A>TCA374319100ABCA1c.3259T>A (p.Ser1087Thr)
c.3079T>A (p.Ser1027Thr)
c.3334T>A (p.Ser1112Thr)
c.2896T>A (p.Ser966Thr)
c.3196T>A (p.Ser1066Thr)
n.3647T>A
9g.104818867G>ACA5168475ABCA1c.3258C>T (p.Leu1086=)
c.3078C>T (p.Leu1026=)
c.3333C>T (p.Leu1111=)
c.2895C>T (p.Leu965=)
c.3195C>T (p.Leu1065=)
n.3646C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818867G>CCA5168476ABCA1c.3258C>G (p.Leu1086=)
c.3078C>G (p.Leu1026=)
c.3333C>G (p.Leu1111=)
c.2895C>G (p.Leu965=)
c.3195C>G (p.Leu1065=)
n.3646C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818867G=CA1869947977ABCA1c.3258C= (p.Leu1086=)
c.3078C= (p.Leu1026=)
c.3333C= (p.Leu1111=)
c.2895C= (p.Leu965=)
c.3195C= (p.Leu1065=)
n.3646C=
9g.104818867G>TCA466506066ABCA1c.3258C>A (p.Leu1086=)
c.3078C>A (p.Leu1026=)
c.3333C>A (p.Leu1111=)
c.2895C>A (p.Leu965=)
c.3195C>A (p.Leu1065=)
n.3646C>A
9g.104818868A=CA1869947985ABCA1c.3257T= (p.Leu1086=)
c.3077T= (p.Leu1026=)
c.3332T= (p.Leu1111=)
c.2894T= (p.Leu965=)
c.3194T= (p.Leu1065=)
n.3645T=
9g.104818868A>CCA374319106ABCA1c.3257T>G (p.Leu1086Arg)
c.3077T>G (p.Leu1026Arg)
c.3332T>G (p.Leu1111Arg)
c.2894T>G (p.Leu965Arg)
c.3194T>G (p.Leu1065Arg)
n.3645T>G
9g.104818868A>GCA374319107ABCA1c.3257T>C (p.Leu1086Pro)
c.3077T>C (p.Leu1026Pro)
c.3332T>C (p.Leu1111Pro)
c.2894T>C (p.Leu965Pro)
c.3194T>C (p.Leu1065Pro)
n.3645T>C
dbSNP gnomAD v2 gnomAD v4
9g.104818868A>TCA374319108ABCA1c.3257T>A (p.Leu1086His)
c.3077T>A (p.Leu1026His)
c.3332T>A (p.Leu1111His)
c.2894T>A (p.Leu965His)
c.3194T>A (p.Leu1065His)
n.3645T>A
9g.104818869G>ACA374319110ABCA1c.3256C>T (p.Leu1086Phe)
c.3076C>T (p.Leu1026Phe)
c.3331C>T (p.Leu1111Phe)
c.2893C>T (p.Leu965Phe)
c.3193C>T (p.Leu1065Phe)
n.3644C>T
dbSNP
9g.104818869G>CCA374319112ABCA1c.3256C>G (p.Leu1086Val)
c.3076C>G (p.Leu1026Val)
c.3331C>G (p.Leu1111Val)
c.2893C>G (p.Leu965Val)
c.3193C>G (p.Leu1065Val)
n.3644C>G
dbSNP gnomAD v2 gnomAD v4
9g.104818869G=CA1869947990ABCA1c.3256C= (p.Leu1086=)
c.3076C= (p.Leu1026=)
c.3331C= (p.Leu1111=)
c.2893C= (p.Leu965=)
c.3193C= (p.Leu1065=)
n.3644C=
9g.104818869G>TCA374319109ABCA1c.3256C>A (p.Leu1086Ile)
c.3076C>A (p.Leu1026Ile)
c.3331C>A (p.Leu1111Ile)
c.2893C>A (p.Leu965Ile)
c.3193C>A (p.Leu1065Ile)
n.3644C>A
9g.104818870A>CCA374319115ABCA1c.3255T>G (p.Ile1085Met)
c.3075T>G (p.Ile1025Met)
c.3330T>G (p.Ile1110Met)
c.2892T>G (p.Ile964Met)
c.3192T>G (p.Ile1064Met)
n.3643T>G
9g.104818870A>GCA466506067ABCA1c.3255T>C (p.Ile1085=)
c.3075T>C (p.Ile1025=)
c.3330T>C (p.Ile1110=)
c.2892T>C (p.Ile964=)
c.3192T>C (p.Ile1064=)
n.3643T>C
9g.104818870A>TCA466506068ABCA1c.3255T>A (p.Ile1085=)
c.3075T>A (p.Ile1025=)
c.3330T>A (p.Ile1110=)
c.2892T>A (p.Ile964=)
c.3192T>A (p.Ile1064=)
n.3643T>A
9g.104818871A>CCA374319117ABCA1c.3254T>G (p.Ile1085Ser)
c.3074T>G (p.Ile1025Ser)
c.3329T>G (p.Ile1110Ser)
c.2891T>G (p.Ile964Ser)
c.3191T>G (p.Ile1064Ser)
n.3642T>G
9g.104818871A>GCA374319119ABCA1c.3254T>C (p.Ile1085Thr)
c.3074T>C (p.Ile1025Thr)
c.3329T>C (p.Ile1110Thr)
c.2891T>C (p.Ile964Thr)
c.3191T>C (p.Ile1064Thr)
n.3642T>C
9g.104818871A>TCA374319121ABCA1c.3254T>A (p.Ile1085Asn)
c.3074T>A (p.Ile1025Asn)
c.3329T>A (p.Ile1110Asn)
c.2891T>A (p.Ile964Asn)
c.3191T>A (p.Ile1064Asn)
n.3642T>A
9g.104818872T>ACA374319123ABCA1c.3253A>T (p.Ile1085Phe)
c.3073A>T (p.Ile1025Phe)
c.3328A>T (p.Ile1110Phe)
c.2890A>T (p.Ile964Phe)
c.3190A>T (p.Ile1064Phe)
n.3641A>T
gnomAD v4
9g.104818872T>CCA5168477ABCA1c.3253A>G (p.Ile1085Val)
c.3073A>G (p.Ile1025Val)
c.3328A>G (p.Ile1110Val)
c.2890A>G (p.Ile964Val)
c.3190A>G (p.Ile1064Val)
n.3641A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818872T>GCA374319126ABCA1c.3253A>C (p.Ile1085Leu)
c.3073A>C (p.Ile1025Leu)
c.3328A>C (p.Ile1110Leu)
c.2890A>C (p.Ile964Leu)
c.3190A>C (p.Ile1064Leu)
n.3641A>C
gnomAD v4
9g.104818872T=CA1869947996ABCA1c.3253A= (p.Ile1085=)
c.3073A= (p.Ile1025=)
c.3328A= (p.Ile1110=)
c.2890A= (p.Ile964=)
c.3190A= (p.Ile1064=)
n.3641A=
9g.104818873A>CCA374319128ABCA1c.3252T>G (p.Ile1084Met)
c.3072T>G (p.Ile1024Met)
c.3327T>G (p.Ile1109Met)
c.2889T>G (p.Ile963Met)
c.3189T>G (p.Ile1063Met)
n.3640T>G
9g.104818873A>GCA466506069ABCA1c.3252T>C (p.Ile1084=)
c.3072T>C (p.Ile1024=)
c.3327T>C (p.Ile1109=)
c.2889T>C (p.Ile963=)
c.3189T>C (p.Ile1063=)
n.3640T>C
9g.104818873A>TCA466506070ABCA1c.3252T>A (p.Ile1084=)
c.3072T>A (p.Ile1024=)
c.3327T>A (p.Ile1109=)
c.2889T>A (p.Ile963=)
c.3189T>A (p.Ile1063=)
n.3640T>A
9g.104818874A>CCA374319131ABCA1c.3251T>G (p.Ile1084Ser)
c.3071T>G (p.Ile1024Ser)
c.3326T>G (p.Ile1109Ser)
c.2888T>G (p.Ile963Ser)
c.3188T>G (p.Ile1063Ser)
n.3639T>G
9g.104818874A>GCA374319132ABCA1c.3251T>C (p.Ile1084Thr)
c.3071T>C (p.Ile1024Thr)
c.3326T>C (p.Ile1109Thr)
c.2888T>C (p.Ile963Thr)
c.3188T>C (p.Ile1063Thr)
n.3639T>C
9g.104818874A>TCA374319134ABCA1c.3251T>A (p.Ile1084Asn)
c.3071T>A (p.Ile1024Asn)
c.3326T>A (p.Ile1109Asn)
c.2888T>A (p.Ile963Asn)
c.3188T>A (p.Ile1063Asn)
n.3639T>A
9g.104818875T>ACA374319137ABCA1c.3250A>T (p.Ile1084Phe)
c.3070A>T (p.Ile1024Phe)
c.3325A>T (p.Ile1109Phe)
c.2887A>T (p.Ile963Phe)
c.3187A>T (p.Ile1063Phe)
n.3638A>T
gnomAD v4
9g.104818875T>CCA5168478ABCA1c.3250A>G (p.Ile1084Val)
c.3070A>G (p.Ile1024Val)
c.3325A>G (p.Ile1109Val)
c.2887A>G (p.Ile963Val)
c.3187A>G (p.Ile1063Val)
n.3638A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818875T>GCA374319139ABCA1c.3250A>C (p.Ile1084Leu)
c.3070A>C (p.Ile1024Leu)
c.3325A>C (p.Ile1109Leu)
c.2887A>C (p.Ile963Leu)
c.3187A>C (p.Ile1063Leu)
n.3638A>C
9g.104818875T=CA1869948001ABCA1c.3250A= (p.Ile1084=)
c.3070A= (p.Ile1024=)
c.3325A= (p.Ile1109=)
c.2887A= (p.Ile963=)
c.3187A= (p.Ile1063=)
n.3638A=
9g.104818876G>ACA466506071ABCA1c.3249C>T (p.Thr1083=)
c.3069C>T (p.Thr1023=)
c.3324C>T (p.Thr1108=)
c.2886C>T (p.Thr962=)
c.3186C>T (p.Thr1062=)
n.3637C>T
gnomAD v4
9g.104818876G>CCA466506072ABCA1c.3249C>G (p.Thr1083=)
c.3069C>G (p.Thr1023=)
c.3324C>G (p.Thr1108=)
c.2886C>G (p.Thr962=)
c.3186C>G (p.Thr1062=)
n.3637C>G
ClinVar
9g.104818876G>TCA466506073ABCA1c.3249C>A (p.Thr1083=)
c.3069C>A (p.Thr1023=)
c.3324C>A (p.Thr1108=)
c.2886C>A (p.Thr962=)
c.3186C>A (p.Thr1062=)
n.3637C>A
9g.104818877G>ACA374319144ABCA1c.3248C>T (p.Thr1083Ile)
c.3068C>T (p.Thr1023Ile)
c.3323C>T (p.Thr1108Ile)
c.2885C>T (p.Thr962Ile)
c.3185C>T (p.Thr1062Ile)
n.3636C>T
gnomAD v4
9g.104818877G>CCA374319142ABCA1c.3248C>G (p.Thr1083Ser)
c.3068C>G (p.Thr1023Ser)
c.3323C>G (p.Thr1108Ser)
c.2885C>G (p.Thr962Ser)
c.3185C>G (p.Thr1062Ser)
n.3636C>G
9g.104818877G>TCA374319143ABCA1c.3248C>A (p.Thr1083Asn)
c.3068C>A (p.Thr1023Asn)
c.3323C>A (p.Thr1108Asn)
c.2885C>A (p.Thr962Asn)
c.3185C>A (p.Thr1062Asn)
n.3636C>A
9g.104818878T>ACA5168479ABCA1c.3247A>T (p.Thr1083Ser)
c.3067A>T (p.Thr1023Ser)
c.3322A>T (p.Thr1108Ser)
c.2884A>T (p.Thr962Ser)
c.3184A>T (p.Thr1062Ser)
n.3635A>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104818878T>CCA374319145ABCA1c.3247A>G (p.Thr1083Ala)
c.3067A>G (p.Thr1023Ala)
c.3322A>G (p.Thr1108Ala)
c.2884A>G (p.Thr962Ala)
c.3184A>G (p.Thr1062Ala)
n.3635A>G
9g.104818878T>GCA374319146ABCA1c.3247A>C (p.Thr1083Pro)
c.3067A>C (p.Thr1023Pro)
c.3322A>C (p.Thr1108Pro)
c.2884A>C (p.Thr962Pro)
c.3184A>C (p.Thr1062Pro)
n.3635A>C
9g.104818878T=CA1869948005ABCA1c.3247A= (p.Thr1083=)
c.3067A= (p.Thr1023=)
c.3322A= (p.Thr1108=)
c.2884A= (p.Thr962=)
c.3184A= (p.Thr1062=)
n.3635A=
9g.104818879G>ACA466506074ABCA1c.3246C>T (p.Arg1082=)
c.3066C>T (p.Arg1022=)
c.3321C>T (p.Arg1107=)
c.2883C>T (p.Arg961=)
c.3183C>T (p.Arg1061=)
n.3634C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104818879G>CCA466506075ABCA1c.3246C>G (p.Arg1082=)
c.3066C>G (p.Arg1022=)
c.3321C>G (p.Arg1107=)
c.2883C>G (p.Arg961=)
c.3183C>G (p.Arg1061=)
n.3634C>G
9g.104818879G=CA1869948009ABCA1c.3246C= (p.Arg1082=)
c.3066C= (p.Arg1022=)
c.3321C= (p.Arg1107=)
c.2883C= (p.Arg961=)
c.3183C= (p.Arg1061=)
n.3634C=
9g.104818879G>TCA466506076ABCA1c.3246C>A (p.Arg1082=)
c.3066C>A (p.Arg1022=)
c.3321C>A (p.Arg1107=)
c.2883C>A (p.Arg961=)
c.3183C>A (p.Arg1061=)
n.3634C>A
9g.104818880C>ACA374319147ABCA1c.3245G>T (p.Arg1082Leu)
c.3065G>T (p.Arg1022Leu)
c.3320G>T (p.Arg1107Leu)
c.2882G>T (p.Arg961Leu)
c.3182G>T (p.Arg1061Leu)
n.3633G>T
9g.104818880C=CA1869948015ABCA1c.3245G= (p.Arg1082=)
c.3065G= (p.Arg1022=)
c.3320G= (p.Arg1107=)
c.2882G= (p.Arg961=)
c.3182G= (p.Arg1061=)
n.3633G=
9g.104818880C>GCA374319148ABCA1c.3245G>C (p.Arg1082Pro)
c.3065G>C (p.Arg1022Pro)
c.3320G>C (p.Arg1107Pro)
c.2882G>C (p.Arg961Pro)
c.3182G>C (p.Arg1061Pro)
n.3633G>C
9g.104818880C>TCA5168480ABCA1c.3245G>A (p.Arg1082His)
c.3065G>A (p.Arg1022His)
c.3320G>A (p.Arg1107His)
c.2882G>A (p.Arg961His)
c.3182G>A (p.Arg1061His)
n.3633G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.104818881G>ACA5168481ABCA1c.3244C>T (p.Arg1082Cys)
c.3064C>T (p.Arg1022Cys)
c.3319C>T (p.Arg1107Cys)
c.2881C>T (p.Arg961Cys)
c.3181C>T (p.Arg1061Cys)
n.3632C>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104818881G>CCA374319149ABCA1c.3244C>G (p.Arg1082Gly)
c.3064C>G (p.Arg1022Gly)
c.3319C>G (p.Arg1107Gly)
c.2881C>G (p.Arg961Gly)
c.3181C>G (p.Arg1061Gly)
n.3632C>G
9g.104818881G=CA1869948021ABCA1c.3244C= (p.Arg1082=)
c.3064C= (p.Arg1022=)
c.3319C= (p.Arg1107=)
c.2881C= (p.Arg961=)
c.3181C= (p.Arg1061=)
n.3632C=
9g.104818881G>TCA374319150ABCA1c.3244C>A (p.Arg1082Ser)
c.3064C>A (p.Arg1022Ser)
c.3319C>A (p.Arg1107Ser)
c.2881C>A (p.Arg961Ser)
c.3181C>A (p.Arg1061Ser)
n.3632C>A
9g.104818882G>ACA466506077ABCA1c.3243C>T (p.Gly1081=)
c.3063C>T (p.Gly1021=)
c.3318C>T (p.Gly1106=)
c.2880C>T (p.Gly960=)
c.3180C>T (p.Gly1060=)
n.3631C>T
gnomAD v4
9g.104818882G>CCA466506079ABCA1c.3243C>G (p.Gly1081=)
c.3063C>G (p.Gly1021=)
c.3318C>G (p.Gly1106=)
c.2880C>G (p.Gly960=)
c.3180C>G (p.Gly1060=)
n.3631C>G
9g.104818882G>TCA466506078ABCA1c.3243C>A (p.Gly1081=)
c.3063C>A (p.Gly1021=)
c.3318C>A (p.Gly1106=)
c.2880C>A (p.Gly960=)
c.3180C>A (p.Gly1060=)
n.3631C>A
gnomAD v4
9g.104818883C>ACA374319151ABCA1c.3242G>T (p.Gly1081Val)
c.3062G>T (p.Gly1021Val)
c.3317G>T (p.Gly1106Val)
c.2879G>T (p.Gly960Val)
c.3179G>T (p.Gly1060Val)
n.3630G>T
9g.104818883C=CA1869948027ABCA1c.3242G= (p.Gly1081=)
c.3062G= (p.Gly1021=)
c.3317G= (p.Gly1106=)
c.2879G= (p.Gly960=)
c.3179G= (p.Gly1060=)
n.3630G=
9g.104818883C>GCA374319152ABCA1c.3242G>C (p.Gly1081Ala)
c.3062G>C (p.Gly1021Ala)
c.3317G>C (p.Gly1106Ala)
c.2879G>C (p.Gly960Ala)
c.3179G>C (p.Gly1060Ala)
n.3630G>C
9g.104818883C>TCA5168482ABCA1c.3242G>A (p.Gly1081Asp)
c.3062G>A (p.Gly1021Asp)
c.3317G>A (p.Gly1106Asp)
c.2879G>A (p.Gly960Asp)
c.3179G>A (p.Gly1060Asp)
n.3630G>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104818884C>ACA374319155ABCA1c.3242-1G>T (n.3242-1G>T)
c.3062-1G>T (n.3062-1G>T)
c.3317-1G>T (n.3317-1G>T)
c.2879-1G>T (n.2879-1G>T)
c.3179-1G>T (n.3179-1G>T)
n.3630-1G>T
9g.104818884C>GCA374319154ABCA1c.3242-1G>C (n.3242-1G>C)
c.3062-1G>C (n.3062-1G>C)
c.3317-1G>C (n.3317-1G>C)
c.2879-1G>C (n.2879-1G>C)
c.3179-1G>C (n.3179-1G>C)
n.3630-1G>C
9g.104818884C>TCA374319153ABCA1c.3242-1G>A (n.3242-1G>A)
c.3062-1G>A (n.3062-1G>A)
c.3317-1G>A (n.3317-1G>A)
c.2879-1G>A (n.2879-1G>A)
c.3179-1G>A (n.3179-1G>A)
n.3630-1G>A
9g.104818885T>ACA374319156ABCA1c.3242-2A>T (n.3242-2A>T)
c.3062-2A>T (n.3062-2A>T)
c.3317-2A>T (n.3317-2A>T)
c.2879-2A>T (n.2879-2A>T)
c.3179-2A>T (n.3179-2A>T)
n.3630-2A>T
9g.104818885T>CCA374319157ABCA1c.3242-2A>G (n.3242-2A>G)
c.3062-2A>G (n.3062-2A>G)
c.3317-2A>G (n.3317-2A>G)
c.2879-2A>G (n.2879-2A>G)
c.3179-2A>G (n.3179-2A>G)
n.3630-2A>G
9g.104818885T>GCA374319158ABCA1c.3242-2A>C (n.3242-2A>C)
c.3062-2A>C (n.3062-2A>C)
c.3317-2A>C (n.3317-2A>C)
c.2879-2A>C (n.2879-2A>C)
c.3179-2A>C (n.3179-2A>C)
n.3630-2A>C
9g.104818886G>ACA466506080ABCA1c.3242-3C>T (n.3242-3C>T)
c.3062-3C>T (n.3062-3C>T)
c.3317-3C>T (n.3317-3C>T)
c.2879-3C>T (n.2879-3C>T)
c.3179-3C>T (n.3179-3C>T)
n.3630-3C>T
gnomAD v4 COSMIC
9g.104818887C>ACA2579406706ABCA1c.3242-4G>T (n.3242-4G>T)
c.3062-4G>T (n.3062-4G>T)
c.3317-4G>T (n.3317-4G>T)
c.2879-4G>T (n.2879-4G>T)
c.3179-4G>T (n.3179-4G>T)
n.3630-4G>T
9g.104818887C>GCA2691053046ABCA1c.3242-4G>C (n.3242-4G>C)
c.3062-4G>C (n.3062-4G>C)
c.3317-4G>C (n.3317-4G>C)
c.2879-4G>C (n.2879-4G>C)
c.3179-4G>C (n.3179-4G>C)
n.3630-4G>C
gnomAD v4
9g.104818888delCA2691053045ABCA1c.3242-4del (n.3242-4del)
c.3062-4del (n.3062-4del)
c.3317-4del (n.3317-4del)
c.2879-4del (n.2879-4del)
c.3179-4del (n.3179-4del)
n.3630-4del
gnomAD v4
9g.104818888C=CA1869948032ABCA1c.3242-5G= (n.3242-5G=)
c.3062-5G= (n.3062-5G=)
c.3317-5G= (n.3317-5G=)
c.2879-5G= (n.2879-5G=)
c.3179-5G= (n.3179-5G=)
n.3630-5G=
9g.104818888C>TCA590046487ABCA1c.3242-5G>A (n.3242-5G>A)
c.3062-5G>A (n.3062-5G>A)
c.3317-5G>A (n.3317-5G>A)
c.2879-5G>A (n.2879-5G>A)
c.3179-5G>A (n.3179-5G>A)
n.3630-5G>A
dbSNP gnomAD v2 gnomAD v4
9g.104818889A=CA1869948035ABCA1c.3242-6T= (n.3242-6T=)
c.3062-6T= (n.3062-6T=)
c.3317-6T= (n.3317-6T=)
c.2879-6T= (n.2879-6T=)
c.3179-6T= (n.3179-6T=)
n.3630-6T=
9g.104818889A>GCA590046488ABCA1c.3242-6T>C (n.3242-6T>C)
c.3062-6T>C (n.3062-6T>C)
c.3317-6T>C (n.3317-6T>C)
c.2879-6T>C (n.2879-6T>C)
c.3179-6T>C (n.3179-6T>C)
n.3630-6T>C
dbSNP gnomAD v2 gnomAD v4
9g.104818890G>ACA590046489ABCA1c.3242-7C>T (n.3242-7C>T)
c.3062-7C>T (n.3062-7C>T)
c.3317-7C>T (n.3317-7C>T)
c.2879-7C>T (n.2879-7C>T)
c.3179-7C>T (n.3179-7C>T)
n.3630-7C>T
dbSNP gnomAD v2 gnomAD v4
9g.104818890G=CA1869948039ABCA1c.3242-7C= (n.3242-7C=)
c.3062-7C= (n.3062-7C=)
c.3317-7C= (n.3317-7C=)
c.2879-7C= (n.2879-7C=)
c.3179-7C= (n.3179-7C=)
n.3630-7C=
9g.104818891G>ACA590046490ABCA1c.3242-8C>T (n.3242-8C>T)
c.3062-8C>T (n.3062-8C>T)
c.3317-8C>T (n.3317-8C>T)
c.2879-8C>T (n.2879-8C>T)
c.3179-8C>T (n.3179-8C>T)
n.3630-8C>T
dbSNP gnomAD v2 gnomAD v4
9g.104818891G=CA1869948042ABCA1c.3242-8C= (n.3242-8C=)
c.3062-8C= (n.3062-8C=)
c.3317-8C= (n.3317-8C=)
c.2879-8C= (n.2879-8C=)
c.3179-8C= (n.3179-8C=)
n.3630-8C=
9g.104818893A=CA1869948046ABCA1c.3242-10T= (n.3242-10T=)
c.3062-10T= (n.3062-10T=)
c.3317-10T= (n.3317-10T=)
c.2879-10T= (n.2879-10T=)
c.3179-10T= (n.3179-10T=)
n.3630-10T=
9g.104818893A>GCA5168483ABCA1c.3242-10T>C (n.3242-10T>C)
c.3062-10T>C (n.3062-10T>C)
c.3317-10T>C (n.3317-10T>C)
c.2879-10T>C (n.2879-10T>C)
c.3179-10T>C (n.3179-10T>C)
n.3630-10T>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104818894C=CA1869948049ABCA1c.3242-11G= (n.3242-11G=)
c.3062-11G= (n.3062-11G=)
c.3317-11G= (n.3317-11G=)
c.2879-11G= (n.2879-11G=)
c.3179-11G= (n.3179-11G=)
n.3630-11G=
9g.104818894C>GCA1869948050ABCA1c.3242-11G>C (n.3242-11G>C)
c.3062-11G>C (n.3062-11G>C)
c.3317-11G>C (n.3317-11G>C)
c.2879-11G>C (n.2879-11G>C)
c.3179-11G>C (n.3179-11G>C)
n.3630-11G>C
dbSNP
9g.104818896A=CA1869948053ABCA1c.3242-13T= (n.3242-13T=)
c.3062-13T= (n.3062-13T=)
c.3317-13T= (n.3317-13T=)
c.2879-13T= (n.2879-13T=)
c.3179-13T= (n.3179-13T=)
n.3630-13T=
9g.104818896A>GCA2691053047ABCA1c.3242-13T>C (n.3242-13T>C)
c.3062-13T>C (n.3062-13T>C)
c.3317-13T>C (n.3317-13T>C)
c.2879-13T>C (n.2879-13T>C)
c.3179-13T>C (n.3179-13T>C)
n.3630-13T>C
gnomAD v4
9g.104818896A>TCA5168484ABCA1c.3242-13T>A (n.3242-13T>A)
c.3062-13T>A (n.3062-13T>A)
c.3317-13T>A (n.3317-13T>A)
c.2879-13T>A (n.2879-13T>A)
c.3179-13T>A (n.3179-13T>A)
n.3630-13T>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104818899A>GCA2691053048ABCA1c.3242-16T>C (n.3242-16T>C)
c.3062-16T>C (n.3062-16T>C)
c.3317-16T>C (n.3317-16T>C)
c.2879-16T>C (n.2879-16T>C)
c.3179-16T>C (n.3179-16T>C)
n.3630-16T>C
gnomAD v4
9g.104818900C=CA1869948057ABCA1c.3242-17G= (n.3242-17G=)
c.3062-17G= (n.3062-17G=)
c.3317-17G= (n.3317-17G=)
c.2879-17G= (n.2879-17G=)
c.3179-17G= (n.3179-17G=)
n.3630-17G=
9g.104818900C>TCA1127657552ABCA1c.3242-17G>A (n.3242-17G>A)
c.3062-17G>A (n.3062-17G>A)
c.3317-17G>A (n.3317-17G>A)
c.2879-17G>A (n.2879-17G>A)
c.3179-17G>A (n.3179-17G>A)
n.3630-17G>A
dbSNP gnomAD v3 gnomAD v4
9g.104818901A>GCA2691053049ABCA1c.3242-18T>C (n.3242-18T>C)
c.3062-18T>C (n.3062-18T>C)
c.3317-18T>C (n.3317-18T>C)
c.2879-18T>C (n.2879-18T>C)
c.3179-18T>C (n.3179-18T>C)
n.3630-18T>C
gnomAD v4
9g.104818904G>ACA590046491ABCA1c.3242-21C>T (n.3242-21C>T)
c.3062-21C>T (n.3062-21C>T)
c.3317-21C>T (n.3317-21C>T)
c.2879-21C>T (n.2879-21C>T)
c.3179-21C>T (n.3179-21C>T)
n.3630-21C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104818904G=CA1869948059ABCA1c.3242-21C= (n.3242-21C=)
c.3062-21C= (n.3062-21C=)
c.3317-21C= (n.3317-21C=)
c.2879-21C= (n.2879-21C=)
c.3179-21C= (n.3179-21C=)
n.3630-21C=
9g.104818905A=CA1869948061ABCA1c.3242-22T= (n.3242-22T=)
c.3062-22T= (n.3062-22T=)
c.3317-22T= (n.3317-22T=)
c.2879-22T= (n.2879-22T=)
c.3179-22T= (n.3179-22T=)
n.3630-22T=
9g.104818905A>TCA590046492ABCA1c.3242-22T>A (n.3242-22T>A)
c.3062-22T>A (n.3062-22T>A)
c.3317-22T>A (n.3317-22T>A)
c.2879-22T>A (n.2879-22T>A)
c.3179-22T>A (n.3179-22T>A)
n.3630-22T>A
dbSNP gnomAD v2 gnomAD v4
9g.104818906T>ACA2691053051ABCA1c.3242-23A>T (n.3242-23A>T)
c.3062-23A>T (n.3062-23A>T)
c.3317-23A>T (n.3317-23A>T)
c.2879-23A>T (n.2879-23A>T)
c.3179-23A>T (n.3179-23A>T)
n.3630-23A>T
gnomAD v4
9g.104818906T>CCA2691053050ABCA1c.3242-23A>G (n.3242-23A>G)
c.3062-23A>G (n.3062-23A>G)
c.3317-23A>G (n.3317-23A>G)
c.2879-23A>G (n.2879-23A>G)
c.3179-23A>G (n.3179-23A>G)
n.3630-23A>G
gnomAD v4
9g.104818909G>ACA2691053052ABCA1c.3242-26C>T (n.3242-26C>T)
c.3062-26C>T (n.3062-26C>T)
c.3317-26C>T (n.3317-26C>T)
c.2879-26C>T (n.2879-26C>T)
c.3179-26C>T (n.3179-26C>T)
n.3630-26C>T
gnomAD v4
9g.104818909G>TCA2691053053ABCA1c.3242-26C>A (n.3242-26C>A)
c.3062-26C>A (n.3062-26C>A)
c.3317-26C>A (n.3317-26C>A)
c.2879-26C>A (n.2879-26C>A)
c.3179-26C>A (n.3179-26C>A)
n.3630-26C>A
gnomAD v4
9g.104818910G>TCA2691053054ABCA1c.3242-27C>A (n.3242-27C>A)
c.3062-27C>A (n.3062-27C>A)
c.3317-27C>A (n.3317-27C>A)
c.2879-27C>A (n.2879-27C>A)
c.3179-27C>A (n.3179-27C>A)
n.3630-27C>A
gnomAD v4
9g.104818911G>ACA197383370ABCA1c.3242-28C>T (n.3242-28C>T)
c.3062-28C>T (n.3062-28C>T)
c.3317-28C>T (n.3317-28C>T)
c.2879-28C>T (n.2879-28C>T)
c.3179-28C>T (n.3179-28C>T)
n.3630-28C>T
dbSNP
9g.104818911G>CCA2579406707ABCA1c.3242-28C>G (n.3242-28C>G)
c.3062-28C>G (n.3062-28C>G)
c.3317-28C>G (n.3317-28C>G)
c.2879-28C>G (n.2879-28C>G)
c.3179-28C>G (n.3179-28C>G)
n.3630-28C>G
9g.104818911G=CA1869948064ABCA1c.3242-28C= (n.3242-28C=)
c.3062-28C= (n.3062-28C=)
c.3317-28C= (n.3317-28C=)
c.2879-28C= (n.2879-28C=)
c.3179-28C= (n.3179-28C=)
n.3630-28C=
9g.104818912A>GCA2691053055ABCA1c.3242-29T>C (n.3242-29T>C)
c.3062-29T>C (n.3062-29T>C)
c.3317-29T>C (n.3317-29T>C)
c.2879-29T>C (n.2879-29T>C)
c.3179-29T>C (n.3179-29T>C)
n.3630-29T>C
gnomAD v4
9g.104818913C>ACA2691053056ABCA1c.3242-30G>T (n.3242-30G>T)
c.3062-30G>T (n.3062-30G>T)
c.3317-30G>T (n.3317-30G>T)
c.2879-30G>T (n.2879-30G>T)
c.3179-30G>T (n.3179-30G>T)
n.3630-30G>T
gnomAD v4
9g.104818914A>GCA2568570672ABCA1c.3242-31T>C (n.3242-31T>C)
c.3062-31T>C (n.3062-31T>C)
c.3317-31T>C (n.3317-31T>C)
c.2879-31T>C (n.2879-31T>C)
c.3179-31T>C (n.3179-31T>C)
n.3630-31T>C
9g.104818915G>ACA5168485ABCA1c.3242-32C>T (n.3242-32C>T)
c.3062-32C>T (n.3062-32C>T)
c.3317-32C>T (n.3317-32C>T)
c.2879-32C>T (n.2879-32C>T)
c.3179-32C>T (n.3179-32C>T)
n.3630-32C>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104818915G=CA1869948068ABCA1c.3242-32C= (n.3242-32C=)
c.3062-32C= (n.3062-32C=)
c.3317-32C= (n.3317-32C=)
c.2879-32C= (n.2879-32C=)
c.3179-32C= (n.3179-32C=)
n.3630-32C=
9g.104818916G>ACA197383381ABCA1c.3242-33C>T (n.3242-33C>T)
c.3062-33C>T (n.3062-33C>T)
c.3317-33C>T (n.3317-33C>T)
c.2879-33C>T (n.2879-33C>T)
c.3179-33C>T (n.3179-33C>T)
n.3630-33C>T
dbSNP
9g.104818916G=CA1869948075ABCA1c.3242-33C= (n.3242-33C=)
c.3062-33C= (n.3062-33C=)
c.3317-33C= (n.3317-33C=)
c.2879-33C= (n.2879-33C=)
c.3179-33C= (n.3179-33C=)
n.3630-33C=
9g.104818917T>ACA2691053057ABCA1c.3242-34A>T (n.3242-34A>T)
c.3062-34A>T (n.3062-34A>T)
c.3317-34A>T (n.3317-34A>T)
c.2879-34A>T (n.2879-34A>T)
c.3179-34A>T (n.3179-34A>T)
n.3630-34A>T
gnomAD v4
9g.104818918G>TCA2691053058ABCA1c.3242-35C>A (n.3242-35C>A)
c.3062-35C>A (n.3062-35C>A)
c.3317-35C>A (n.3317-35C>A)
c.2879-35C>A (n.2879-35C>A)
c.3179-35C>A (n.3179-35C>A)
n.3630-35C>A
gnomAD v4
9g.104818918_104818919insTTCA2785407107ABCA1c.3242-36_3242-35insAA (n.3242-36_3242-35insAA)
c.3062-36_3062-35insAA (n.3062-36_3062-35insAA)
c.3317-36_3317-35insAA (n.3317-36_3317-35insAA)
c.2879-36_2879-35insAA (n.2879-36_2879-35insAA)
c.3179-36_3179-35insAA (n.3179-36_3179-35insAA)
n.3630-36_3630-35insAA
9g.104818919A>GCA2691053059ABCA1c.3242-36T>C (n.3242-36T>C)
c.3062-36T>C (n.3062-36T>C)
c.3317-36T>C (n.3317-36T>C)
c.2879-36T>C (n.2879-36T>C)
c.3179-36T>C (n.3179-36T>C)
n.3630-36T>C
gnomAD v4
9g.104818920G>ACA590046493ABCA1c.3242-37C>T (n.3242-37C>T)
c.3062-37C>T (n.3062-37C>T)
c.3317-37C>T (n.3317-37C>T)
c.2879-37C>T (n.2879-37C>T)
c.3179-37C>T (n.3179-37C>T)
n.3630-37C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104818920G=CA1869948076ABCA1c.3242-37C= (n.3242-37C=)
c.3062-37C= (n.3062-37C=)
c.3317-37C= (n.3317-37C=)
c.2879-37C= (n.2879-37C=)
c.3179-37C= (n.3179-37C=)
n.3630-37C=
9g.104818921G>CCA5168487ABCA1c.3242-38C>G (n.3242-38C>G)
c.3062-38C>G (n.3062-38C>G)
c.3317-38C>G (n.3317-38C>G)
c.2879-38C>G (n.2879-38C>G)
c.3179-38C>G (n.3179-38C>G)
n.3630-38C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818921G=CA1869948078ABCA1c.3242-38C= (n.3242-38C=)
c.3062-38C= (n.3062-38C=)
c.3317-38C= (n.3317-38C=)
c.2879-38C= (n.2879-38C=)
c.3179-38C= (n.3179-38C=)
n.3630-38C=
9g.104818921G>TCA5168486ABCA1c.3242-38C>A (n.3242-38C>A)
c.3062-38C>A (n.3062-38C>A)
c.3317-38C>A (n.3317-38C>A)
c.2879-38C>A (n.2879-38C>A)
c.3179-38C>A (n.3179-38C>A)
n.3630-38C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818922C=CA1869948082ABCA1c.3242-39G= (n.3242-39G=)
c.3062-39G= (n.3062-39G=)
c.3317-39G= (n.3317-39G=)
c.2879-39G= (n.2879-39G=)
c.3179-39G= (n.3179-39G=)
n.3630-39G=
9g.104818922C>TCA5168488ABCA1c.3242-39G>A (n.3242-39G>A)
c.3062-39G>A (n.3062-39G>A)
c.3317-39G>A (n.3317-39G>A)
c.2879-39G>A (n.2879-39G>A)
c.3179-39G>A (n.3179-39G>A)
n.3630-39G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104818923delCA2579406708ABCA1c.3242-39del (n.3242-39del)
c.3062-39del (n.3062-39del)
c.3317-39del (n.3317-39del)
c.2879-39del (n.2879-39del)
c.3179-39del (n.3179-39del)
n.3630-39del
9g.104818922_104818930delCA2785407112ABCA1c.3242-47_3242-39del (n.3242-47_3242-39del)
c.3062-47_3062-39del (n.3062-47_3062-39del)
c.3317-47_3317-39del (n.3317-47_3317-39del)
c.2879-47_2879-39del (n.2879-47_2879-39del)
c.3179-47_3179-39del (n.3179-47_3179-39del)
n.3630-47_3630-39del
9g.104818923C>ACA2579406710ABCA1c.3242-40G>T (n.3242-40G>T)
c.3062-40G>T (n.3062-40G>T)
c.3317-40G>T (n.3317-40G>T)
c.2879-40G>T (n.2879-40G>T)
c.3179-40G>T (n.3179-40G>T)
n.3630-40G>T
9g.104818923C=CA1869948084ABCA1c.3242-40G= (n.3242-40G=)
c.3062-40G= (n.3062-40G=)
c.3317-40G= (n.3317-40G=)
c.2879-40G= (n.2879-40G=)
c.3179-40G= (n.3179-40G=)
n.3630-40G=
9g.104818923C>TCA5168489ABCA1c.3242-40G>A (n.3242-40G>A)
c.3062-40G>A (n.3062-40G>A)
c.3317-40G>A (n.3317-40G>A)
c.2879-40G>A (n.2879-40G>A)
c.3179-40G>A (n.3179-40G>A)
n.3630-40G>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104818926_104818927delCA2579406709ABCA1c.3242-41_3242-40del (n.3242-41_3242-40del)
c.3062-41_3062-40del (n.3062-41_3062-40del)
c.3317-41_3317-40del (n.3317-41_3317-40del)
c.2879-41_2879-40del (n.2879-41_2879-40del)
c.3179-41_3179-40del (n.3179-41_3179-40del)
n.3630-41_3630-40del
9g.104818927C>ACA2499550921ABCA1c.3242-44G>T (n.3242-44G>T)
c.3062-44G>T (n.3062-44G>T)
c.3317-44G>T (n.3317-44G>T)
c.2879-44G>T (n.2879-44G>T)
c.3179-44G>T (n.3179-44G>T)
n.3630-44G>T
gnomAD v4
9g.104818927C=CA1869948088ABCA1c.3242-44G= (n.3242-44G=)
c.3062-44G= (n.3062-44G=)
c.3317-44G= (n.3317-44G=)
c.2879-44G= (n.2879-44G=)
c.3179-44G= (n.3179-44G=)
n.3630-44G=
9g.104818927C>GCA590046494ABCA1c.3242-44G>C (n.3242-44G>C)
c.3062-44G>C (n.3062-44G>C)
c.3317-44G>C (n.3317-44G>C)
c.2879-44G>C (n.2879-44G>C)
c.3179-44G>C (n.3179-44G>C)
n.3630-44G>C
dbSNP gnomAD v2 gnomAD v4
9g.104818928A>GCA2579406711ABCA1c.3242-45T>C (n.3242-45T>C)
c.3062-45T>C (n.3062-45T>C)
c.3317-45T>C (n.3317-45T>C)
c.2879-45T>C (n.2879-45T>C)
c.3179-45T>C (n.3179-45T>C)
n.3630-45T>C
9g.104818929G>TCA2579406712ABCA1c.3242-46C>A (n.3242-46C>A)
c.3062-46C>A (n.3062-46C>A)
c.3317-46C>A (n.3317-46C>A)
c.2879-46C>A (n.2879-46C>A)
c.3179-46C>A (n.3179-46C>A)
n.3630-46C>A
9g.104818930T>ACA5168490ABCA1c.3242-47A>T (n.3242-47A>T)
c.3062-47A>T (n.3062-47A>T)
c.3317-47A>T (n.3317-47A>T)
c.2879-47A>T (n.2879-47A>T)
c.3179-47A>T (n.3179-47A>T)
n.3630-47A>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104818930T>CCA2691053060ABCA1c.3242-47A>G (n.3242-47A>G)
c.3062-47A>G (n.3062-47A>G)
c.3317-47A>G (n.3317-47A>G)
c.2879-47A>G (n.2879-47A>G)
c.3179-47A>G (n.3179-47A>G)
n.3630-47A>G
gnomAD v4
9g.104818930T=CA1869948091ABCA1c.3242-47A= (n.3242-47A=)
c.3062-47A= (n.3062-47A=)
c.3317-47A= (n.3317-47A=)
c.2879-47A= (n.2879-47A=)
c.3179-47A= (n.3179-47A=)
n.3630-47A=
9g.104818932C>ACA2691053061ABCA1c.3242-49G>T (n.3242-49G>T)
c.3062-49G>T (n.3062-49G>T)
c.3317-49G>T (n.3317-49G>T)
c.2879-49G>T (n.2879-49G>T)
c.3179-49G>T (n.3179-49G>T)
n.3630-49G>T
gnomAD v4
9g.104818932C>TCA2579406713ABCA1c.3242-49G>A (n.3242-49G>A)
c.3062-49G>A (n.3062-49G>A)
c.3317-49G>A (n.3317-49G>A)
c.2879-49G>A (n.2879-49G>A)
c.3179-49G>A (n.3179-49G>A)
n.3630-49G>A

Number of alleles fetched