Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104818842C>A | CA374318982 | ABCA1 | c.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 | |
9 | g.104818842C>G | CA374318984 | ABCA1 | c.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 | |
9 | g.104818842C>T | CA374318985 | ABCA1 | c.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 |
9 | g.104818843dup | CA2695203285 | ABCA1 | c.3283dup (p.Asp1095GlyfsTer?) c.3103dup (p.Asp1035GlyfsTer?) c.3358dup (p.Asp1120GlyfsTer?) c.2920dup (p.Asp974GlyfsTer?) c.3220dup (p.Asp1074GlyfsTer?) n.3671dup | |
9 | g.104818843C>A | CA466506055 | ABCA1 | c.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 |
9 | g.104818843C= | CA1869947945 | ABCA1 | c.3282G= (p.Ala1094=) c.3102G= (p.Ala1034=) c.3357G= (p.Ala1119=) c.2919G= (p.Ala973=) c.3219G= (p.Ala1073=) n.3670G= | |
9 | g.104818843C>G | CA466506056 | ABCA1 | c.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 | |
9 | g.104818843C>T | CA466506057 | ABCA1 | c.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 |
9 | g.104818844G>A | CA374318992 | ABCA1 | c.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 |
9 | g.104818844G>C | CA374318990 | ABCA1 | c.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 | |
9 | g.104818844G= | CA1869947947 | ABCA1 | c.3281C= (p.Ala1094=) c.3101C= (p.Ala1034=) c.3356C= (p.Ala1119=) c.2918C= (p.Ala973=) c.3218C= (p.Ala1073=) n.3669C= | |
9 | g.104818844G>T | CA374318988 | ABCA1 | c.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 | |
9 | g.104818845C>A | CA374318995 | ABCA1 | c.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 | |
9 | g.104818845C= | CA1869947950 | ABCA1 | c.3280G= (p.Ala1094=) c.3100G= (p.Ala1034=) c.3355G= (p.Ala1119=) c.2917G= (p.Ala973=) c.3217G= (p.Ala1073=) n.3668G= | |
9 | g.104818845C>G | CA374318998 | ABCA1 | c.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 | |
9 | g.104818845C>T | CA374318996 | ABCA1 | c.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 |
9 | g.104818846T>A | CA374319000 | ABCA1 | c.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 | |
9 | g.104818846T>C | CA466506058 | ABCA1 | c.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 | |
9 | g.104818846T>G | CA374319002 | ABCA1 | c.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 | |
9 | g.104818847T>A | CA374319004 | ABCA1 | c.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 | |
9 | g.104818847T>C | CA374319007 | ABCA1 | c.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 |
9 | g.104818847T>G | CA374319006 | ABCA1 | c.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 | |
9 | g.104818848C>A | CA374319010 | ABCA1 | c.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 | |
9 | g.104818848C>G | CA374319012 | ABCA1 | c.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 | |
9 | g.104818848C>T | CA374319014 | ABCA1 | c.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 | |
9 | g.104818849A>C | CA374319016 | ABCA1 | c.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 | |
9 | g.104818849A>G | CA466506059 | ABCA1 | c.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 |
9 | g.104818849A>T | CA374319017 | ABCA1 | c.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 | |
9 | g.104818850T>A | CA374319020 | ABCA1 | c.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 | |
9 | g.104818850T>C | CA374319021 | ABCA1 | c.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 | |
9 | g.104818850T>G | CA374319023 | ABCA1 | c.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 | |
9 | g.104818851C>A | CA374319025 | ABCA1 | c.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 |
9 | g.104818851C= | CA1869947952 | ABCA1 | c.3274G= (p.Asp1092=) c.3094G= (p.Asp1032=) c.3349G= (p.Asp1117=) c.2911G= (p.Asp971=) c.3211G= (p.Asp1071=) n.3662G= | |
9 | g.104818851C>G | CA374319027 | ABCA1 | c.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 | |
9 | g.104818851C>T | CA374319029 | ABCA1 | c.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 | |
9 | g.104818852C>A | CA374319031 | ABCA1 | c.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 | |
9 | g.104818852C>G | CA374319035 | ABCA1 | c.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 | |
9 | g.104818852C>T | CA374319033 | ABCA1 | c.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 | |
9 | g.104818853A>C | CA374319037 | ABCA1 | c.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 | |
9 | g.104818853A>G | CA374319039 | ABCA1 | c.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 |
9 | g.104818853A>T | CA374319040 | ABCA1 | c.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 | |
9 | g.104818854T>A | CA374319043 | ABCA1 | c.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 | |
9 | g.104818854T>C | CA374319044 | ABCA1 | c.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 | |
9 | g.104818854T>G | CA374319045 | ABCA1 | c.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 | |
9 | g.104818855G>A | CA5168474 | ABCA1 | c.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 |
9 | g.104818855G>C | CA374319049 | ABCA1 | c.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 | |
9 | g.104818855G= | CA1869947962 | ABCA1 | c.3270C= (p.His1090=) c.3090C= (p.His1030=) c.3345C= (p.His1115=) c.2907C= (p.His969=) c.3207C= (p.His1069=) n.3658C= | |
9 | g.104818855G>T | CA374319051 | ABCA1 | c.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 | |
9 | g.104818856T>A | CA374319055 | ABCA1 | c.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 | |
9 | g.104818856T>C | CA374319057 | ABCA1 | c.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 | |
9 | g.104818856T>G | CA374319053 | ABCA1 | c.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 | |
9 | g.104818857G>A | CA374319060 | ABCA1 | c.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 | |
9 | g.104818857G>C | CA374319061 | ABCA1 | c.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 | |
9 | g.104818857G>T | CA374319062 | ABCA1 | c.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 | |
9 | g.104818858G>A | CA466506060 | ABCA1 | c.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 | |
9 | g.104818858G>C | CA374319065 | ABCA1 | c.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 | |
9 | g.104818858G>T | CA374319066 | ABCA1 | c.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 | |
9 | g.104818859T>A | CA374319068 | ABCA1 | c.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 | |
9 | g.104818859T>C | CA374319070 | ABCA1 | c.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 | |
9 | g.104818859T>G | CA374319072 | ABCA1 | c.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 | |
9 | g.104818860G>A | CA374319074 | ABCA1 | c.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 |
9 | g.104818860G>C | CA374319076 | ABCA1 | c.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 | |
9 | g.104818860G>T | CA374319078 | ABCA1 | c.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 | |
9 | g.104818861T>A | CA466506061 | ABCA1 | c.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 | |
9 | g.104818861T>C | CA466506063 | ABCA1 | c.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 | |
9 | g.104818861T>G | CA466506062 | ABCA1 | c.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 | |
9 | g.104818862G>A | CA374319082 | ABCA1 | c.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 | |
9 | g.104818862G>C | CA374319084 | ABCA1 | c.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 | |
9 | g.104818862G>T | CA374319080 | ABCA1 | c.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 | |
9 | g.104818863T>A | CA374319086 | ABCA1 | c.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 | |
9 | g.104818863T>C | CA374319088 | ABCA1 | c.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 | |
9 | g.104818863T>G | CA374319090 | ABCA1 | c.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 | |
9 | g.104818864A= | CA1869947966 | ABCA1 | c.3261T= (p.Ser1087=) c.3081T= (p.Ser1027=) c.3336T= (p.Ser1112=) c.2898T= (p.Ser966=) c.3198T= (p.Ser1066=) n.3649T= | |
9 | g.104818864A>C | CA466506064 | ABCA1 | c.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 |
9 | g.104818864A>G | CA466506065 | ABCA1 | c.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 | |
9 | g.104818864A>T | CA197383270 | ABCA1 | c.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 |
9 | g.104818865G>A | CA374319092 | ABCA1 | c.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 | |
9 | g.104818865G>C | CA374319094 | ABCA1 | c.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 | |
9 | g.104818865G>T | CA374319096 | ABCA1 | c.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 | |
9 | g.104818866A>C | CA374319098 | ABCA1 | c.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 | |
9 | g.104818866A>G | CA374319102 | ABCA1 | c.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 | |
9 | g.104818866A>T | CA374319100 | ABCA1 | c.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 | |
9 | g.104818867G>A | CA5168475 | ABCA1 | c.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 |
9 | g.104818867G>C | CA5168476 | ABCA1 | c.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 |
9 | g.104818867G= | CA1869947977 | ABCA1 | c.3258C= (p.Leu1086=) c.3078C= (p.Leu1026=) c.3333C= (p.Leu1111=) c.2895C= (p.Leu965=) c.3195C= (p.Leu1065=) n.3646C= | |
9 | g.104818867G>T | CA466506066 | ABCA1 | c.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 | |
9 | g.104818868A= | CA1869947985 | ABCA1 | c.3257T= (p.Leu1086=) c.3077T= (p.Leu1026=) c.3332T= (p.Leu1111=) c.2894T= (p.Leu965=) c.3194T= (p.Leu1065=) n.3645T= | |
9 | g.104818868A>C | CA374319106 | ABCA1 | c.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 | |
9 | g.104818868A>G | CA374319107 | ABCA1 | c.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 |
9 | g.104818868A>T | CA374319108 | ABCA1 | c.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 | |
9 | g.104818869G>A | CA374319110 | ABCA1 | c.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 |
9 | g.104818869G>C | CA374319112 | ABCA1 | c.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 |
9 | g.104818869G= | CA1869947990 | ABCA1 | c.3256C= (p.Leu1086=) c.3076C= (p.Leu1026=) c.3331C= (p.Leu1111=) c.2893C= (p.Leu965=) c.3193C= (p.Leu1065=) n.3644C= | |
9 | g.104818869G>T | CA374319109 | ABCA1 | c.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 | |
9 | g.104818870A>C | CA374319115 | ABCA1 | c.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 | |
9 | g.104818870A>G | CA466506067 | ABCA1 | c.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 | |
9 | g.104818870A>T | CA466506068 | ABCA1 | c.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 | |
9 | g.104818871A>C | CA374319117 | ABCA1 | c.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 | |
9 | g.104818871A>G | CA374319119 | ABCA1 | c.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 | |
9 | g.104818871A>T | CA374319121 | ABCA1 | c.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 | |
9 | g.104818872T>A | CA374319123 | ABCA1 | c.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 |
9 | g.104818872T>C | CA5168477 | ABCA1 | c.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 |
9 | g.104818872T>G | CA374319126 | ABCA1 | c.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 |
9 | g.104818872T= | CA1869947996 | ABCA1 | c.3253A= (p.Ile1085=) c.3073A= (p.Ile1025=) c.3328A= (p.Ile1110=) c.2890A= (p.Ile964=) c.3190A= (p.Ile1064=) n.3641A= | |
9 | g.104818873A>C | CA374319128 | ABCA1 | c.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 | |
9 | g.104818873A>G | CA466506069 | ABCA1 | c.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 | |
9 | g.104818873A>T | CA466506070 | ABCA1 | c.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 | |
9 | g.104818874A>C | CA374319131 | ABCA1 | c.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 | |
9 | g.104818874A>G | CA374319132 | ABCA1 | c.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 | |
9 | g.104818874A>T | CA374319134 | ABCA1 | c.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 | |
9 | g.104818875T>A | CA374319137 | ABCA1 | c.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 |
9 | g.104818875T>C | CA5168478 | ABCA1 | c.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 |
9 | g.104818875T>G | CA374319139 | ABCA1 | c.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 | |
9 | g.104818875T= | CA1869948001 | ABCA1 | c.3250A= (p.Ile1084=) c.3070A= (p.Ile1024=) c.3325A= (p.Ile1109=) c.2887A= (p.Ile963=) c.3187A= (p.Ile1063=) n.3638A= | |
9 | g.104818876G>A | CA466506071 | ABCA1 | c.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 |
9 | g.104818876G>C | CA466506072 | ABCA1 | c.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 |
9 | g.104818876G>T | CA466506073 | ABCA1 | c.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 | |
9 | g.104818877G>A | CA374319144 | ABCA1 | c.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 |
9 | g.104818877G>C | CA374319142 | ABCA1 | c.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 | |
9 | g.104818877G>T | CA374319143 | ABCA1 | c.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 | |
9 | g.104818878T>A | CA5168479 | ABCA1 | c.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 |
9 | g.104818878T>C | CA374319145 | ABCA1 | c.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 | |
9 | g.104818878T>G | CA374319146 | ABCA1 | c.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 | |
9 | g.104818878T= | CA1869948005 | ABCA1 | c.3247A= (p.Thr1083=) c.3067A= (p.Thr1023=) c.3322A= (p.Thr1108=) c.2884A= (p.Thr962=) c.3184A= (p.Thr1062=) n.3635A= | |
9 | g.104818879G>A | CA466506074 | ABCA1 | c.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 |
9 | g.104818879G>C | CA466506075 | ABCA1 | c.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 | |
9 | g.104818879G= | CA1869948009 | ABCA1 | c.3246C= (p.Arg1082=) c.3066C= (p.Arg1022=) c.3321C= (p.Arg1107=) c.2883C= (p.Arg961=) c.3183C= (p.Arg1061=) n.3634C= | |
9 | g.104818879G>T | CA466506076 | ABCA1 | c.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 | |
9 | g.104818880C>A | CA374319147 | ABCA1 | c.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 | |
9 | g.104818880C= | CA1869948015 | ABCA1 | c.3245G= (p.Arg1082=) c.3065G= (p.Arg1022=) c.3320G= (p.Arg1107=) c.2882G= (p.Arg961=) c.3182G= (p.Arg1061=) n.3633G= | |
9 | g.104818880C>G | CA374319148 | ABCA1 | c.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 | |
9 | g.104818880C>T | CA5168480 | ABCA1 | c.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 |
9 | g.104818881G>A | CA5168481 | ABCA1 | c.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 |
9 | g.104818881G>C | CA374319149 | ABCA1 | c.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 | |
9 | g.104818881G= | CA1869948021 | ABCA1 | c.3244C= (p.Arg1082=) c.3064C= (p.Arg1022=) c.3319C= (p.Arg1107=) c.2881C= (p.Arg961=) c.3181C= (p.Arg1061=) n.3632C= | |
9 | g.104818881G>T | CA374319150 | ABCA1 | c.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 | |
9 | g.104818882G>A | CA466506077 | ABCA1 | c.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 |
9 | g.104818882G>C | CA466506079 | ABCA1 | c.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 | |
9 | g.104818882G>T | CA466506078 | ABCA1 | c.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 |
9 | g.104818883C>A | CA374319151 | ABCA1 | c.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 | |
9 | g.104818883C= | CA1869948027 | ABCA1 | c.3242G= (p.Gly1081=) c.3062G= (p.Gly1021=) c.3317G= (p.Gly1106=) c.2879G= (p.Gly960=) c.3179G= (p.Gly1060=) n.3630G= | |
9 | g.104818883C>G | CA374319152 | ABCA1 | c.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 | |
9 | g.104818883C>T | CA5168482 | ABCA1 | c.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 |
9 | g.104818884C>A | CA374319155 | ABCA1 | c.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 | |
9 | g.104818884C>G | CA374319154 | ABCA1 | c.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 | |
9 | g.104818884C>T | CA374319153 | ABCA1 | c.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 | |
9 | g.104818885T>A | CA374319156 | ABCA1 | c.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 | |
9 | g.104818885T>C | CA374319157 | ABCA1 | c.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 | |
9 | g.104818885T>G | CA374319158 | ABCA1 | c.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 | |
9 | g.104818886G>A | CA466506080 | ABCA1 | c.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 |
9 | g.104818887C>A | CA2579406706 | ABCA1 | c.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 | |
9 | g.104818887C>G | CA2691053046 | ABCA1 | c.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 |
9 | g.104818888del | CA2691053045 | ABCA1 | c.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 |
9 | g.104818888C= | CA1869948032 | ABCA1 | c.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= | |
9 | g.104818888C>T | CA590046487 | ABCA1 | c.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 |
9 | g.104818889A= | CA1869948035 | ABCA1 | c.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= | |
9 | g.104818889A>G | CA590046488 | ABCA1 | c.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 |
9 | g.104818890G>A | CA590046489 | ABCA1 | c.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 |
9 | g.104818890G= | CA1869948039 | ABCA1 | c.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= | |
9 | g.104818891G>A | CA590046490 | ABCA1 | c.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 |
9 | g.104818891G= | CA1869948042 | ABCA1 | c.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= | |
9 | g.104818893A= | CA1869948046 | ABCA1 | c.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= | |
9 | g.104818893A>G | CA5168483 | ABCA1 | c.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 |
9 | g.104818894C= | CA1869948049 | ABCA1 | c.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= | |
9 | g.104818894C>G | CA1869948050 | ABCA1 | c.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 |
9 | g.104818896A= | CA1869948053 | ABCA1 | c.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= | |
9 | g.104818896A>G | CA2691053047 | ABCA1 | c.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 |
9 | g.104818896A>T | CA5168484 | ABCA1 | c.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 |
9 | g.104818899A>G | CA2691053048 | ABCA1 | c.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 |
9 | g.104818900C= | CA1869948057 | ABCA1 | c.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= | |
9 | g.104818900C>T | CA1127657552 | ABCA1 | c.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 |
9 | g.104818901A>G | CA2691053049 | ABCA1 | c.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 |
9 | g.104818904G>A | CA590046491 | ABCA1 | c.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 |
9 | g.104818904G= | CA1869948059 | ABCA1 | c.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= | |
9 | g.104818905A= | CA1869948061 | ABCA1 | c.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= | |
9 | g.104818905A>T | CA590046492 | ABCA1 | c.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 |
9 | g.104818906T>A | CA2691053051 | ABCA1 | c.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 |
9 | g.104818906T>C | CA2691053050 | ABCA1 | c.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 |
9 | g.104818909G>A | CA2691053052 | ABCA1 | c.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 |
9 | g.104818909G>T | CA2691053053 | ABCA1 | c.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 |
9 | g.104818910G>T | CA2691053054 | ABCA1 | c.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 |
9 | g.104818911G>A | CA197383370 | ABCA1 | c.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 |
9 | g.104818911G>C | CA2579406707 | ABCA1 | c.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 | |
9 | g.104818911G= | CA1869948064 | ABCA1 | c.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= | |
9 | g.104818912A>G | CA2691053055 | ABCA1 | c.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 |
9 | g.104818913C>A | CA2691053056 | ABCA1 | c.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 |
9 | g.104818914A>G | CA2568570672 | ABCA1 | c.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 | |
9 | g.104818915G>A | CA5168485 | ABCA1 | c.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 |
9 | g.104818915G= | CA1869948068 | ABCA1 | c.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= | |
9 | g.104818916G>A | CA197383381 | ABCA1 | c.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 |
9 | g.104818916G= | CA1869948075 | ABCA1 | c.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= | |
9 | g.104818917T>A | CA2691053057 | ABCA1 | c.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 |
9 | g.104818918G>T | CA2691053058 | ABCA1 | c.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 |
9 | g.104818918_104818919insTT | CA2785407107 | ABCA1 | c.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 | |
9 | g.104818919A>G | CA2691053059 | ABCA1 | c.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 |
9 | g.104818920G>A | CA590046493 | ABCA1 | c.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 |
9 | g.104818920G= | CA1869948076 | ABCA1 | c.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= | |
9 | g.104818921G>C | CA5168487 | ABCA1 | c.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 |
9 | g.104818921G= | CA1869948078 | ABCA1 | c.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= | |
9 | g.104818921G>T | CA5168486 | ABCA1 | c.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 |
9 | g.104818922C= | CA1869948082 | ABCA1 | c.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= | |
9 | g.104818922C>T | CA5168488 | ABCA1 | c.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 |
9 | g.104818923del | CA2579406708 | ABCA1 | c.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 | |
9 | g.104818922_104818930del | CA2785407112 | ABCA1 | c.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 | |
9 | g.104818923C>A | CA2579406710 | ABCA1 | c.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 | |
9 | g.104818923C= | CA1869948084 | ABCA1 | c.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= | |
9 | g.104818923C>T | CA5168489 | ABCA1 | c.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 |
9 | g.104818926_104818927del | CA2579406709 | ABCA1 | c.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 | |
9 | g.104818927C>A | CA2499550921 | ABCA1 | c.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 |
9 | g.104818927C= | CA1869948088 | ABCA1 | c.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= | |
9 | g.104818927C>G | CA590046494 | ABCA1 | c.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 |
9 | g.104818928A>G | CA2579406711 | ABCA1 | c.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 | |
9 | g.104818929G>T | CA2579406712 | ABCA1 | c.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 | |
9 | g.104818930T>A | CA5168490 | ABCA1 | c.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 |
9 | g.104818930T>C | CA2691053060 | ABCA1 | c.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 |
9 | g.104818930T= | CA1869948091 | ABCA1 | c.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= | |
9 | g.104818932C>A | CA2691053061 | ABCA1 | c.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 |
9 | g.104818932C>T | CA2579406713 | ABCA1 | c.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 | |
9 | g.104818934G>C | CA2785407115 | ABCA1 | c.3242-51C>G (n.3242-51C>G) c.3062-51C>G (n.3062-51C>G) c.3317-51C>G (n.3317-51C>G) c.2879-51C>G (n.2879-51C>G) c.3179-51C>G (n.3179-51C>G) n.3630-51C>G | |
9 | g.104818934G>T | CA2691053062 | ABCA1 | c.3242-51C>A (n.3242-51C>A) c.3062-51C>A (n.3062-51C>A) c.3317-51C>A (n.3317-51C>A) c.2879-51C>A (n.2879-51C>A) c.3179-51C>A (n.3179-51C>A) n.3630-51C>A | gnomAD v4 |
9 | g.104818935_104818936delinsAT | CA1869948094 | ABCA1 | c.3242-53_3242-52delinsAT (n.3242-53_3242-52delinsAT) c.3062-53_3062-52delinsAT (n.3062-53_3062-52delinsAT) c.3317-53_3317-52delinsAT (n.3317-53_3317-52delinsAT) c.2879-53_2879-52delinsAT (n.2879-53_2879-52delinsAT) c.3179-53_3179-52delinsAT (n.3179-53_3179-52delinsAT) n.3630-53_3630-52delinsAT | |
9 | g.104818938del | CA1127657568 | ABCA1 | c.3242-53del (n.3242-53del) c.3062-53del (n.3062-53del) c.3317-53del (n.3317-53del) c.2879-53del (n.2879-53del) c.3179-53del (n.3179-53del) n.3630-53del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104818937T>A | CA2579406714 | ABCA1 | c.3242-54A>T (n.3242-54A>T) c.3062-54A>T (n.3062-54A>T) c.3317-54A>T (n.3317-54A>T) c.2879-54A>T (n.2879-54A>T) c.3179-54A>T (n.3179-54A>T) n.3630-54A>T | |
9 | g.104818937T>C | CA2691053063 | ABCA1 | c.3242-54A>G (n.3242-54A>G) c.3062-54A>G (n.3062-54A>G) c.3317-54A>G (n.3317-54A>G) c.2879-54A>G (n.2879-54A>G) c.3179-54A>G (n.3179-54A>G) n.3630-54A>G | gnomAD v4 |
9 | g.104818938T>C | CA2785407117 | ABCA1 | c.3242-55A>G (n.3242-55A>G) c.3062-55A>G (n.3062-55A>G) c.3317-55A>G (n.3317-55A>G) c.2879-55A>G (n.2879-55A>G) c.3179-55A>G (n.3179-55A>G) n.3630-55A>G | |
9 | g.104818939G>A | CA2691053064 | ABCA1 | c.3242-56C>T (n.3242-56C>T) c.3062-56C>T (n.3062-56C>T) c.3317-56C>T (n.3317-56C>T) c.2879-56C>T (n.2879-56C>T) c.3179-56C>T (n.3179-56C>T) n.3630-56C>T | gnomAD v4 |
9 | g.104818939G>T | CA2691053065 | ABCA1 | c.3242-56C>A (n.3242-56C>A) c.3062-56C>A (n.3062-56C>A) c.3317-56C>A (n.3317-56C>A) c.2879-56C>A (n.2879-56C>A) c.3179-56C>A (n.3179-56C>A) n.3630-56C>A | gnomAD v4 |
9 | g.104818941C>A | CA2691053066 | ABCA1 | c.3242-58G>T (n.3242-58G>T) c.3062-58G>T (n.3062-58G>T) c.3317-58G>T (n.3317-58G>T) c.2879-58G>T (n.2879-58G>T) c.3179-58G>T (n.3179-58G>T) n.3630-58G>T | gnomAD v4 |
9 | g.104818942A= | CA1869948098 | ABCA1 | c.3242-59T= (n.3242-59T=) c.3062-59T= (n.3062-59T=) c.3317-59T= (n.3317-59T=) c.2879-59T= (n.2879-59T=) c.3179-59T= (n.3179-59T=) n.3630-59T= | |
9 | g.104818942A>G | CA197383423 | ABCA1 | c.3242-59T>C (n.3242-59T>C) c.3062-59T>C (n.3062-59T>C) c.3317-59T>C (n.3317-59T>C) c.2879-59T>C (n.2879-59T>C) c.3179-59T>C (n.3179-59T>C) n.3630-59T>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104818946_104818951del | CA2691053067 | ABCA1 | c.3242-64_3242-59del (n.3242-64_3242-59del) c.3062-64_3062-59del (n.3062-64_3062-59del) c.3317-64_3317-59del (n.3317-64_3317-59del) c.2879-64_2879-59del (n.2879-64_2879-59del) c.3179-64_3179-59del (n.3179-64_3179-59del) n.3630-64_3630-59del | gnomAD v4 |