| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104818739G>A | CA374318691 | ABCA1 | c.3386C>T (p.Thr1129Ile) c.3206C>T (p.Thr1069Ile) c.3461C>T (p.Thr1154Ile) c.3023C>T (p.Thr1008Ile) c.3323C>T (p.Thr1108Ile) n.3774C>T | gnomAD v4 |
| 9 | g.104818739G>C | CA374318692 | ABCA1 | c.3386C>G (p.Thr1129Ser) c.3206C>G (p.Thr1069Ser) c.3461C>G (p.Thr1154Ser) c.3023C>G (p.Thr1008Ser) c.3323C>G (p.Thr1108Ser) n.3774C>G | |
| 9 | g.104818739G>T | CA374318693 | ABCA1 | c.3386C>A (p.Thr1129Asn) c.3206C>A (p.Thr1069Asn) c.3461C>A (p.Thr1154Asn) c.3023C>A (p.Thr1008Asn) c.3323C>A (p.Thr1108Asn) n.3774C>A | gnomAD v4 |
| 9 | g.104818740T>A | CA374318694 | ABCA1 | c.3385A>T (p.Thr1129Ser) c.3205A>T (p.Thr1069Ser) c.3460A>T (p.Thr1154Ser) c.3022A>T (p.Thr1008Ser) c.3322A>T (p.Thr1108Ser) n.3773A>T | |
| 9 | g.104818740T>C | CA374318695 | ABCA1 | c.3385A>G (p.Thr1129Ala) c.3205A>G (p.Thr1069Ala) c.3460A>G (p.Thr1154Ala) c.3022A>G (p.Thr1008Ala) c.3322A>G (p.Thr1108Ala) n.3773A>G | |
| 9 | g.104818740T>G | CA374318696 | ABCA1 | c.3385A>C (p.Thr1129Pro) c.3205A>C (p.Thr1069Pro) c.3460A>C (p.Thr1154Pro) c.3022A>C (p.Thr1008Pro) c.3322A>C (p.Thr1108Pro) n.3773A>C | |
| 9 | g.104818741C>A | CA466505986 | ABCA1 | c.3384G>T (p.Leu1128=) c.3204G>T (p.Leu1068=) c.3459G>T (p.Leu1153=) c.3021G>T (p.Leu1007=) c.3321G>T (p.Leu1107=) n.3772G>T | |
| 9 | g.104818741C>G | CA466505987 | ABCA1 | c.3384G>C (p.Leu1128=) c.3204G>C (p.Leu1068=) c.3459G>C (p.Leu1153=) c.3021G>C (p.Leu1007=) c.3321G>C (p.Leu1107=) n.3772G>C | |
| 9 | g.104818741C>T | CA466505988 | ABCA1 | c.3384G>A (p.Leu1128=) c.3204G>A (p.Leu1068=) c.3459G>A (p.Leu1153=) c.3021G>A (p.Leu1007=) c.3321G>A (p.Leu1107=) n.3772G>A | |
| 9 | g.104818742A>C | CA374318699 | ABCA1 | c.3383T>G (p.Leu1128Arg) c.3203T>G (p.Leu1068Arg) c.3458T>G (p.Leu1153Arg) c.3020T>G (p.Leu1007Arg) c.3320T>G (p.Leu1107Arg) n.3771T>G | |
| 9 | g.104818742A>G | CA374318698 | ABCA1 | c.3383T>C (p.Leu1128Pro) c.3203T>C (p.Leu1068Pro) c.3458T>C (p.Leu1153Pro) c.3020T>C (p.Leu1007Pro) c.3320T>C (p.Leu1107Pro) n.3771T>C | |
| 9 | g.104818742A>T | CA374318697 | ABCA1 | c.3383T>A (p.Leu1128Gln) c.3203T>A (p.Leu1068Gln) c.3458T>A (p.Leu1153Gln) c.3020T>A (p.Leu1007Gln) c.3320T>A (p.Leu1107Gln) n.3771T>A | |
| 9 | g.104818743G>A | CA197383095 | ABCA1 | c.3382C>T (p.Leu1128=) c.3202C>T (p.Leu1068=) c.3457C>T (p.Leu1153=) c.3019C>T (p.Leu1007=) c.3319C>T (p.Leu1107=) n.3770C>T | dbSNP |
| 9 | g.104818743G>C | CA374318700 | ABCA1 | c.3382C>G (p.Leu1128Val) c.3202C>G (p.Leu1068Val) c.3457C>G (p.Leu1153Val) c.3019C>G (p.Leu1007Val) c.3319C>G (p.Leu1107Val) n.3770C>G | dbSNP |
| 9 | g.104818743G= | CA1869947678 | ABCA1 | c.3382C= (p.Leu1128=) c.3202C= (p.Leu1068=) c.3457C= (p.Leu1153=) c.3019C= (p.Leu1007=) c.3319C= (p.Leu1107=) n.3770C= | |
| 9 | g.104818743G>T | CA5168458 | ABCA1 | c.3382C>A (p.Leu1128Met) c.3202C>A (p.Leu1068Met) c.3457C>A (p.Leu1153Met) c.3019C>A (p.Leu1007Met) c.3319C>A (p.Leu1107Met) n.3770C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.104818744G>A | CA197383121 | ABCA1 | c.3381C>T (p.Tyr1127=) c.3201C>T (p.Tyr1067=) c.3456C>T (p.Tyr1152=) c.3018C>T (p.Tyr1006=) c.3318C>T (p.Tyr1106=) n.3769C>T | dbSNP gnomAD v4 |
| 9 | g.104818744G>C | CA374318701 | ABCA1 | c.3381C>G (p.Tyr1127Ter) c.3201C>G (p.Tyr1067Ter) c.3456C>G (p.Tyr1152Ter) c.3018C>G (p.Tyr1006Ter) c.3318C>G (p.Tyr1106Ter) n.3769C>G | |
| 9 | g.104818744G= | CA1869947690 | ABCA1 | c.3381C= (p.Tyr1127=) c.3201C= (p.Tyr1067=) c.3456C= (p.Tyr1152=) c.3018C= (p.Tyr1006=) c.3318C= (p.Tyr1106=) n.3769C= | |
| 9 | g.104818744G>T | CA374318702 | ABCA1 | c.3381C>A (p.Tyr1127Ter) c.3201C>A (p.Tyr1067Ter) c.3456C>A (p.Tyr1152Ter) c.3018C>A (p.Tyr1006Ter) c.3318C>A (p.Tyr1106Ter) n.3769C>A | |
| 9 | g.104818748_104818750dup | CA1869947688 | ABCA1 | c.3379_3381dup (p.Tyr1127_Leu1128insTyr) c.3199_3201dup (p.Tyr1067_Leu1068insTyr) c.3454_3456dup (p.Tyr1152_Leu1153insTyr) c.3016_3018dup (p.Tyr1006_Leu1007insTyr) c.3316_3318dup (p.Tyr1106_Leu1107insTyr) n.3767_3769dup | dbSNP gnomAD v4 |
| 9 | g.104818748_104818750del | CA2691053043 | ABCA1 | c.3379_3381del (p.Tyr1127del) c.3199_3201del (p.Tyr1067del) c.3454_3456del (p.Tyr1152del) c.3016_3018del (p.Tyr1006del) c.3316_3318del (p.Tyr1106del) n.3767_3769del | gnomAD v4 |
| 9 | g.104818745T>A | CA374318703 | ABCA1 | c.3380A>T (p.Tyr1127Phe) c.3200A>T (p.Tyr1067Phe) c.3455A>T (p.Tyr1152Phe) c.3017A>T (p.Tyr1006Phe) c.3317A>T (p.Tyr1106Phe) n.3768A>T | |
| 9 | g.104818745T>C | CA374318704 | ABCA1 | c.3380A>G (p.Tyr1127Cys) c.3200A>G (p.Tyr1067Cys) c.3455A>G (p.Tyr1152Cys) c.3017A>G (p.Tyr1006Cys) c.3317A>G (p.Tyr1106Cys) n.3768A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104818745T>G | CA374318705 | ABCA1 | c.3380A>C (p.Tyr1127Ser) c.3200A>C (p.Tyr1067Ser) c.3455A>C (p.Tyr1152Ser) c.3017A>C (p.Tyr1006Ser) c.3317A>C (p.Tyr1106Ser) n.3768A>C | gnomAD v4 |
| 9 | g.104818745T= | CA1869947699 | ABCA1 | c.3380A= (p.Tyr1127=) c.3200A= (p.Tyr1067=) c.3455A= (p.Tyr1152=) c.3017A= (p.Tyr1006=) c.3317A= (p.Tyr1106=) n.3768A= | |
| 9 | g.104818746A= | CA1869947703 | ABCA1 | c.3379T= (p.Tyr1127=) c.3199T= (p.Tyr1067=) c.3454T= (p.Tyr1152=) c.3016T= (p.Tyr1006=) c.3316T= (p.Tyr1106=) n.3767T= | |
| 9 | g.104818746A>C | CA374318706 | ABCA1 | c.3379T>G (p.Tyr1127Asp) c.3199T>G (p.Tyr1067Asp) c.3454T>G (p.Tyr1152Asp) c.3016T>G (p.Tyr1006Asp) c.3316T>G (p.Tyr1106Asp) n.3767T>G | |
| 9 | g.104818746A>G | CA374318707 | ABCA1 | c.3379T>C (p.Tyr1127His) c.3199T>C (p.Tyr1067His) c.3454T>C (p.Tyr1152His) c.3016T>C (p.Tyr1006His) c.3316T>C (p.Tyr1106His) n.3767T>C | gnomAD v4 |
| 9 | g.104818746A>T | CA5168459 | ABCA1 | c.3379T>A (p.Tyr1127Asn) c.3199T>A (p.Tyr1067Asn) c.3454T>A (p.Tyr1152Asn) c.3016T>A (p.Tyr1006Asn) c.3316T>A (p.Tyr1106Asn) n.3767T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818747G>A | CA466505989 | ABCA1 | c.3378C>T (p.Tyr1126=) c.3198C>T (p.Tyr1066=) c.3453C>T (p.Tyr1151=) c.3015C>T (p.Tyr1005=) c.3315C>T (p.Tyr1105=) n.3766C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104818747G>C | CA374318708 | ABCA1 | c.3378C>G (p.Tyr1126Ter) c.3198C>G (p.Tyr1066Ter) c.3453C>G (p.Tyr1151Ter) c.3015C>G (p.Tyr1005Ter) c.3315C>G (p.Tyr1105Ter) n.3766C>G | |
| 9 | g.104818747G= | CA1869947707 | ABCA1 | c.3378C= (p.Tyr1126=) c.3198C= (p.Tyr1066=) c.3453C= (p.Tyr1151=) c.3015C= (p.Tyr1005=) c.3315C= (p.Tyr1105=) n.3766C= | |
| 9 | g.104818747G>T | CA374318709 | ABCA1 | c.3378C>A (p.Tyr1126Ter) c.3198C>A (p.Tyr1066Ter) c.3453C>A (p.Tyr1151Ter) c.3015C>A (p.Tyr1005Ter) c.3315C>A (p.Tyr1105Ter) n.3766C>A | |
| 9 | g.104818748T>A | CA374318712 | ABCA1 | c.3377A>T (p.Tyr1126Phe) c.3197A>T (p.Tyr1066Phe) c.3452A>T (p.Tyr1151Phe) c.3014A>T (p.Tyr1005Phe) c.3314A>T (p.Tyr1105Phe) n.3765A>T | |
| 9 | g.104818748T>C | CA374318711 | ABCA1 | c.3377A>G (p.Tyr1126Cys) c.3197A>G (p.Tyr1066Cys) c.3452A>G (p.Tyr1151Cys) c.3014A>G (p.Tyr1005Cys) c.3314A>G (p.Tyr1105Cys) n.3765A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.104818748T>G | CA374318710 | ABCA1 | c.3377A>C (p.Tyr1126Ser) c.3197A>C (p.Tyr1066Ser) c.3452A>C (p.Tyr1151Ser) c.3014A>C (p.Tyr1005Ser) c.3314A>C (p.Tyr1105Ser) n.3765A>C | |
| 9 | g.104818748T= | CA1869947716 | ABCA1 | c.3377A= (p.Tyr1126=) c.3197A= (p.Tyr1066=) c.3452A= (p.Tyr1151=) c.3014A= (p.Tyr1005=) c.3314A= (p.Tyr1105=) n.3765A= | |
| 9 | g.104818749A= | CA1869947723 | ABCA1 | c.3376T= (p.Tyr1126=) c.3196T= (p.Tyr1066=) c.3451T= (p.Tyr1151=) c.3013T= (p.Tyr1005=) c.3313T= (p.Tyr1105=) n.3764T= | |
| 9 | g.104818749A>C | CA374318714 | ABCA1 | c.3376T>G (p.Tyr1126Asp) c.3196T>G (p.Tyr1066Asp) c.3451T>G (p.Tyr1151Asp) c.3013T>G (p.Tyr1005Asp) c.3313T>G (p.Tyr1105Asp) n.3764T>G | |
| 9 | g.104818749A>G | CA5168460 | ABCA1 | c.3376T>C (p.Tyr1126His) c.3196T>C (p.Tyr1066His) c.3451T>C (p.Tyr1151His) c.3013T>C (p.Tyr1005His) c.3313T>C (p.Tyr1105His) n.3764T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818749A>T | CA374318713 | ABCA1 | c.3376T>A (p.Tyr1126Asn) c.3196T>A (p.Tyr1066Asn) c.3451T>A (p.Tyr1151Asn) c.3013T>A (p.Tyr1005Asn) c.3313T>A (p.Tyr1105Asn) n.3764T>A | |
| 9 | g.104818750G>A | CA466505990 | ABCA1 | c.3375C>T (p.Gly1125=) c.3195C>T (p.Gly1065=) c.3450C>T (p.Gly1150=) c.3012C>T (p.Gly1004=) c.3312C>T (p.Gly1104=) n.3763C>T | gnomAD v4 |
| 9 | g.104818750G>C | CA466505991 | ABCA1 | c.3375C>G (p.Gly1125=) c.3195C>G (p.Gly1065=) c.3450C>G (p.Gly1150=) c.3012C>G (p.Gly1004=) c.3312C>G (p.Gly1104=) n.3763C>G | |
| 9 | g.104818750G>T | CA466505992 | ABCA1 | c.3375C>A (p.Gly1125=) c.3195C>A (p.Gly1065=) c.3450C>A (p.Gly1150=) c.3012C>A (p.Gly1004=) c.3312C>A (p.Gly1104=) n.3763C>A | |
| 9 | g.104818751C>A | CA374318715 | ABCA1 | c.3374G>T (p.Gly1125Val) c.3194G>T (p.Gly1065Val) c.3449G>T (p.Gly1150Val) c.3011G>T (p.Gly1004Val) c.3311G>T (p.Gly1104Val) n.3762G>T | |
| 9 | g.104818751C>G | CA374318716 | ABCA1 | c.3374G>C (p.Gly1125Ala) c.3194G>C (p.Gly1065Ala) c.3449G>C (p.Gly1150Ala) c.3011G>C (p.Gly1004Ala) c.3311G>C (p.Gly1104Ala) n.3762G>C | |
| 9 | g.104818751C>T | CA374318717 | ABCA1 | c.3374G>A (p.Gly1125Asp) c.3194G>A (p.Gly1065Asp) c.3449G>A (p.Gly1150Asp) c.3011G>A (p.Gly1004Asp) c.3311G>A (p.Gly1104Asp) n.3762G>A | |
| 9 | g.104818752C>A | CA374318720 | ABCA1 | c.3373G>T (p.Gly1125Cys) c.3193G>T (p.Gly1065Cys) c.3448G>T (p.Gly1150Cys) c.3010G>T (p.Gly1004Cys) c.3310G>T (p.Gly1104Cys) n.3761G>T | |
| 9 | g.104818752C>G | CA374318719 | ABCA1 | c.3373G>C (p.Gly1125Arg) c.3193G>C (p.Gly1065Arg) c.3448G>C (p.Gly1150Arg) c.3010G>C (p.Gly1004Arg) c.3310G>C (p.Gly1104Arg) n.3761G>C | |
| 9 | g.104818752C>T | CA374318718 | ABCA1 | c.3373G>A (p.Gly1125Ser) c.3193G>A (p.Gly1065Ser) c.3448G>A (p.Gly1150Ser) c.3010G>A (p.Gly1004Ser) c.3310G>A (p.Gly1104Ser) n.3761G>A | |
| 9 | g.104818753T>A | CA466505993 | ABCA1 | c.3372A>T (p.Thr1124=) c.3192A>T (p.Thr1064=) c.3447A>T (p.Thr1149=) c.3009A>T (p.Thr1003=) c.3309A>T (p.Thr1103=) n.3760A>T | |
| 9 | g.104818753T>C | CA466505994 | ABCA1 | c.3372A>G (p.Thr1124=) c.3192A>G (p.Thr1064=) c.3447A>G (p.Thr1149=) c.3009A>G (p.Thr1003=) c.3309A>G (p.Thr1103=) n.3760A>G | |
| 9 | g.104818753T>G | CA197383150 | ABCA1 | c.3372A>C (p.Thr1124=) c.3192A>C (p.Thr1064=) c.3447A>C (p.Thr1149=) c.3009A>C (p.Thr1003=) c.3309A>C (p.Thr1103=) n.3760A>C | dbSNP gnomAD v4 |
| 9 | g.104818753T= | CA1869947730 | ABCA1 | c.3372A= (p.Thr1124=) c.3192A= (p.Thr1064=) c.3447A= (p.Thr1149=) c.3009A= (p.Thr1003=) c.3309A= (p.Thr1103=) n.3760A= | |
| 9 | g.104818754G>A | CA5168461 | ABCA1 | c.3371C>T (p.Thr1124Ile) c.3191C>T (p.Thr1064Ile) c.3446C>T (p.Thr1149Ile) c.3008C>T (p.Thr1003Ile) c.3308C>T (p.Thr1103Ile) n.3759C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818754G>C | CA374318721 | ABCA1 | c.3371C>G (p.Thr1124Arg) c.3191C>G (p.Thr1064Arg) c.3446C>G (p.Thr1149Arg) c.3008C>G (p.Thr1003Arg) c.3308C>G (p.Thr1103Arg) n.3759C>G | gnomAD v4 |
| 9 | g.104818754G= | CA1869947733 | ABCA1 | c.3371C= (p.Thr1124=) c.3191C= (p.Thr1064=) c.3446C= (p.Thr1149=) c.3008C= (p.Thr1003=) c.3308C= (p.Thr1103=) n.3759C= | |
| 9 | g.104818754G>T | CA374318722 | ABCA1 | c.3371C>A (p.Thr1124Lys) c.3191C>A (p.Thr1064Lys) c.3446C>A (p.Thr1149Lys) c.3008C>A (p.Thr1003Lys) c.3308C>A (p.Thr1103Lys) n.3759C>A | |
| 9 | g.104818755T>A | CA374318723 | ABCA1 | c.3370A>T (p.Thr1124Ser) c.3190A>T (p.Thr1064Ser) c.3445A>T (p.Thr1149Ser) c.3007A>T (p.Thr1003Ser) c.3307A>T (p.Thr1103Ser) n.3758A>T | |
| 9 | g.104818755T>C | CA374318724 | ABCA1 | c.3370A>G (p.Thr1124Ala) c.3190A>G (p.Thr1064Ala) c.3445A>G (p.Thr1149Ala) c.3007A>G (p.Thr1003Ala) c.3307A>G (p.Thr1103Ala) n.3758A>G | ClinVar gnomAD v4 |
| 9 | g.104818755T>G | CA374318725 | ABCA1 | c.3370A>C (p.Thr1124Pro) c.3190A>C (p.Thr1064Pro) c.3445A>C (p.Thr1149Pro) c.3007A>C (p.Thr1003Pro) c.3307A>C (p.Thr1103Pro) n.3758A>C | |
| 9 | g.104818756T>A | CA466505995 | ABCA1 | c.3369A>T (p.Gly1123=) c.3189A>T (p.Gly1063=) c.3444A>T (p.Gly1148=) c.3006A>T (p.Gly1002=) c.3306A>T (p.Gly1102=) n.3757A>T | |
| 9 | g.104818756T>C | CA466505997 | ABCA1 | c.3369A>G (p.Gly1123=) c.3189A>G (p.Gly1063=) c.3444A>G (p.Gly1148=) c.3006A>G (p.Gly1002=) c.3306A>G (p.Gly1102=) n.3757A>G | |
| 9 | g.104818756T>G | CA466505996 | ABCA1 | c.3369A>C (p.Gly1123=) c.3189A>C (p.Gly1063=) c.3444A>C (p.Gly1148=) c.3006A>C (p.Gly1002=) c.3306A>C (p.Gly1102=) n.3757A>C | |
| 9 | g.104818757C>A | CA374318726 | ABCA1 | c.3368G>T (p.Gly1123Val) c.3188G>T (p.Gly1063Val) c.3443G>T (p.Gly1148Val) c.3005G>T (p.Gly1002Val) c.3305G>T (p.Gly1102Val) n.3756G>T | |
| 9 | g.104818757C= | CA1869947736 | ABCA1 | c.3368G= (p.Gly1123=) c.3188G= (p.Gly1063=) c.3443G= (p.Gly1148=) c.3005G= (p.Gly1002=) c.3305G= (p.Gly1102=) n.3756G= | |
| 9 | g.104818757C>G | CA374318727 | ABCA1 | c.3368G>C (p.Gly1123Ala) c.3188G>C (p.Gly1063Ala) c.3443G>C (p.Gly1148Ala) c.3005G>C (p.Gly1002Ala) c.3305G>C (p.Gly1102Ala) n.3756G>C | gnomAD v4 |
| 9 | g.104818757C>T | CA5168462 | ABCA1 | c.3368G>A (p.Gly1123Glu) c.3188G>A (p.Gly1063Glu) c.3443G>A (p.Gly1148Glu) c.3005G>A (p.Gly1002Glu) c.3305G>A (p.Gly1102Glu) n.3756G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818758C>A | CA374318728 | ABCA1 | c.3367G>T (p.Gly1123Ter) c.3187G>T (p.Gly1063Ter) c.3442G>T (p.Gly1148Ter) c.3004G>T (p.Gly1002Ter) c.3304G>T (p.Gly1102Ter) n.3755G>T | |
| 9 | g.104818758C>G | CA374318729 | ABCA1 | c.3367G>C (p.Gly1123Arg) c.3187G>C (p.Gly1063Arg) c.3442G>C (p.Gly1148Arg) c.3004G>C (p.Gly1002Arg) c.3304G>C (p.Gly1102Arg) n.3755G>C | gnomAD v4 |
| 9 | g.104818758C>T | CA374318730 | ABCA1 | c.3367G>A (p.Gly1123Arg) c.3187G>A (p.Gly1063Arg) c.3442G>A (p.Gly1148Arg) c.3004G>A (p.Gly1002Arg) c.3304G>A (p.Gly1102Arg) n.3755G>A | |
| 9 | g.104818759C>A | CA466505998 | ABCA1 | c.3366G>T (p.Leu1122=) c.3186G>T (p.Leu1062=) c.3441G>T (p.Leu1147=) c.3003G>T (p.Leu1001=) c.3303G>T (p.Leu1101=) n.3754G>T | |
| 9 | g.104818759C>G | CA466505999 | ABCA1 | c.3366G>C (p.Leu1122=) c.3186G>C (p.Leu1062=) c.3441G>C (p.Leu1147=) c.3003G>C (p.Leu1001=) c.3303G>C (p.Leu1101=) n.3754G>C | |
| 9 | g.104818759C>T | CA466506000 | ABCA1 | c.3366G>A (p.Leu1122=) c.3186G>A (p.Leu1062=) c.3441G>A (p.Leu1147=) c.3003G>A (p.Leu1001=) c.3303G>A (p.Leu1101=) n.3754G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.104818760A>C | CA374318731 | ABCA1 | c.3365T>G (p.Leu1122Arg) c.3185T>G (p.Leu1062Arg) c.3440T>G (p.Leu1147Arg) c.3002T>G (p.Leu1001Arg) c.3302T>G (p.Leu1101Arg) n.3753T>G | |
| 9 | g.104818760A>G | CA374318732 | ABCA1 | c.3365T>C (p.Leu1122Pro) c.3185T>C (p.Leu1062Pro) c.3440T>C (p.Leu1147Pro) c.3002T>C (p.Leu1001Pro) c.3302T>C (p.Leu1101Pro) n.3753T>C | |
| 9 | g.104818760A>T | CA374318733 | ABCA1 | c.3365T>A (p.Leu1122Gln) c.3185T>A (p.Leu1062Gln) c.3440T>A (p.Leu1147Gln) c.3002T>A (p.Leu1001Gln) c.3302T>A (p.Leu1101Gln) n.3753T>A | |
| 9 | g.104818761G>A | CA5168463 | ABCA1 | c.3364C>T (p.Leu1122=) c.3184C>T (p.Leu1062=) c.3439C>T (p.Leu1147=) c.3001C>T (p.Leu1001=) c.3301C>T (p.Leu1101=) n.3752C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104818761G>C | CA374318734 | ABCA1 | c.3364C>G (p.Leu1122Val) c.3184C>G (p.Leu1062Val) c.3439C>G (p.Leu1147Val) c.3001C>G (p.Leu1001Val) c.3301C>G (p.Leu1101Val) n.3752C>G | |
| 9 | g.104818761G= | CA1869947762 | ABCA1 | c.3364C= (p.Leu1122=) c.3184C= (p.Leu1062=) c.3439C= (p.Leu1147=) c.3001C= (p.Leu1001=) c.3301C= (p.Leu1101=) n.3752C= | |
| 9 | g.104818761G>T | CA374318735 | ABCA1 | c.3364C>A (p.Leu1122Met) c.3184C>A (p.Leu1062Met) c.3439C>A (p.Leu1147Met) c.3001C>A (p.Leu1001Met) c.3301C>A (p.Leu1101Met) n.3752C>A | |
| 9 | g.104818762C>A | CA374318736 | ABCA1 | c.3363G>T (p.Gln1121His) c.3183G>T (p.Gln1061His) c.3438G>T (p.Gln1146His) c.3000G>T (p.Gln1000His) c.3300G>T (p.Gln1100His) n.3751G>T | gnomAD v4 |
| 9 | g.104818762C>G | CA374318737 | ABCA1 | c.3363G>C (p.Gln1121His) c.3183G>C (p.Gln1061His) c.3438G>C (p.Gln1146His) c.3000G>C (p.Gln1000His) c.3300G>C (p.Gln1100His) n.3751G>C | |
| 9 | g.104818762C>T | CA466506001 | ABCA1 | c.3363G>A (p.Gln1121=) c.3183G>A (p.Gln1061=) c.3438G>A (p.Gln1146=) c.3000G>A (p.Gln1000=) c.3300G>A (p.Gln1100=) n.3751G>A | |
| 9 | g.104818763T>A | CA374318739 | ABCA1 | c.3362A>T (p.Gln1121Leu) c.3182A>T (p.Gln1061Leu) c.3437A>T (p.Gln1146Leu) c.2999A>T (p.Gln1000Leu) c.3299A>T (p.Gln1100Leu) n.3750A>T | |
| 9 | g.104818763T>C | CA374318740 | ABCA1 | c.3362A>G (p.Gln1121Arg) c.3182A>G (p.Gln1061Arg) c.3437A>G (p.Gln1146Arg) c.2999A>G (p.Gln1000Arg) c.3299A>G (p.Gln1100Arg) n.3750A>G | gnomAD v4 |
| 9 | g.104818763T>G | CA374318738 | ABCA1 | c.3362A>C (p.Gln1121Pro) c.3182A>C (p.Gln1061Pro) c.3437A>C (p.Gln1146Pro) c.2999A>C (p.Gln1000Pro) c.3299A>C (p.Gln1100Pro) n.3750A>C | |
| 9 | g.104818764G>A | CA374318741 | ABCA1 | c.3361C>T (p.Gln1121Ter) c.3181C>T (p.Gln1061Ter) c.3436C>T (p.Gln1146Ter) c.2998C>T (p.Gln1000Ter) c.3298C>T (p.Gln1100Ter) n.3749C>T | gnomAD v4 |
| 9 | g.104818764G>C | CA374318743 | ABCA1 | c.3361C>G (p.Gln1121Glu) c.3181C>G (p.Gln1061Glu) c.3436C>G (p.Gln1146Glu) c.2998C>G (p.Gln1000Glu) c.3298C>G (p.Gln1100Glu) n.3749C>G | |
| 9 | g.104818764G>T | CA374318742 | ABCA1 | c.3361C>A (p.Gln1121Lys) c.3181C>A (p.Gln1061Lys) c.3436C>A (p.Gln1146Lys) c.2998C>A (p.Gln1000Lys) c.3298C>A (p.Gln1100Lys) n.3749C>A | |
| 9 | g.104818765G>A | CA466506002 | ABCA1 | c.3360C>T (p.Asn1120=) c.3180C>T (p.Asn1060=) c.3435C>T (p.Asn1145=) c.2997C>T (p.Asn999=) c.3297C>T (p.Asn1099=) n.3748C>T | dbSNP gnomAD v4 |
| 9 | g.104818765G>C | CA374318744 | ABCA1 | c.3360C>G (p.Asn1120Lys) c.3180C>G (p.Asn1060Lys) c.3435C>G (p.Asn1145Lys) c.2997C>G (p.Asn999Lys) c.3297C>G (p.Asn1099Lys) n.3748C>G | dbSNP gnomAD v2 |
| 9 | g.104818765G= | CA1869947777 | ABCA1 | c.3360C= (p.Asn1120=) c.3180C= (p.Asn1060=) c.3435C= (p.Asn1145=) c.2997C= (p.Asn999=) c.3297C= (p.Asn1099=) n.3748C= | |
| 9 | g.104818765G>T | CA374318745 | ABCA1 | c.3360C>A (p.Asn1120Lys) c.3180C>A (p.Asn1060Lys) c.3435C>A (p.Asn1145Lys) c.2997C>A (p.Asn999Lys) c.3297C>A (p.Asn1099Lys) n.3748C>A | |
| 9 | g.104818766T>A | CA374318746 | ABCA1 | c.3359A>T (p.Asn1120Ile) c.3179A>T (p.Asn1060Ile) c.3434A>T (p.Asn1145Ile) c.2996A>T (p.Asn999Ile) c.3296A>T (p.Asn1099Ile) n.3747A>T | |
| 9 | g.104818766T>C | CA374318747 | ABCA1 | c.3359A>G (p.Asn1120Ser) c.3179A>G (p.Asn1060Ser) c.3434A>G (p.Asn1145Ser) c.2996A>G (p.Asn999Ser) c.3296A>G (p.Asn1099Ser) n.3747A>G | |
| 9 | g.104818766T>G | CA374318748 | ABCA1 | c.3359A>C (p.Asn1120Thr) c.3179A>C (p.Asn1060Thr) c.3434A>C (p.Asn1145Thr) c.2996A>C (p.Asn999Thr) c.3296A>C (p.Asn1099Thr) n.3747A>C | |
| 9 | g.104818767T>A | CA374318749 | ABCA1 | c.3358A>T (p.Asn1120Tyr) c.3178A>T (p.Asn1060Tyr) c.3433A>T (p.Asn1145Tyr) c.2995A>T (p.Asn999Tyr) c.3295A>T (p.Asn1099Tyr) n.3746A>T | |
| 9 | g.104818767T>C | CA374318750 | ABCA1 | c.3358A>G (p.Asn1120Asp) c.3178A>G (p.Asn1060Asp) c.3433A>G (p.Asn1145Asp) c.2995A>G (p.Asn999Asp) c.3295A>G (p.Asn1099Asp) n.3746A>G | |
| 9 | g.104818767T>G | CA374318751 | ABCA1 | c.3358A>C (p.Asn1120His) c.3178A>C (p.Asn1060His) c.3433A>C (p.Asn1145His) c.2995A>C (p.Asn999His) c.3295A>C (p.Asn1099His) n.3746A>C | |
| 9 | g.104818768C>A | CA374318752 | ABCA1 | c.3357G>T (p.Lys1119Asn) c.3177G>T (p.Lys1059Asn) c.3432G>T (p.Lys1144Asn) c.2994G>T (p.Lys998Asn) c.3294G>T (p.Lys1098Asn) n.3745G>T | |
| 9 | g.104818768C>G | CA374318753 | ABCA1 | c.3357G>C (p.Lys1119Asn) c.3177G>C (p.Lys1059Asn) c.3432G>C (p.Lys1144Asn) c.2994G>C (p.Lys998Asn) c.3294G>C (p.Lys1098Asn) n.3745G>C | gnomAD v4 |
| 9 | g.104818768C>T | CA466506003 | ABCA1 | c.3357G>A (p.Lys1119=) c.3177G>A (p.Lys1059=) c.3432G>A (p.Lys1144=) c.2994G>A (p.Lys998=) c.3294G>A (p.Lys1098=) n.3745G>A | |
| 9 | g.104818769T>A | CA374318756 | ABCA1 | c.3356A>T (p.Lys1119Met) c.3176A>T (p.Lys1059Met) c.3431A>T (p.Lys1144Met) c.2993A>T (p.Lys998Met) c.3293A>T (p.Lys1098Met) n.3744A>T | |
| 9 | g.104818769T>C | CA374318754 | ABCA1 | c.3356A>G (p.Lys1119Arg) c.3176A>G (p.Lys1059Arg) c.3431A>G (p.Lys1144Arg) c.2993A>G (p.Lys998Arg) c.3293A>G (p.Lys1098Arg) n.3744A>G | |
| 9 | g.104818769T>G | CA374318755 | ABCA1 | c.3356A>C (p.Lys1119Thr) c.3176A>C (p.Lys1059Thr) c.3431A>C (p.Lys1144Thr) c.2993A>C (p.Lys998Thr) c.3293A>C (p.Lys1098Thr) n.3744A>C | |
| 9 | g.104818770T>A | CA374318757 | ABCA1 | c.3355A>T (p.Lys1119Ter) c.3175A>T (p.Lys1059Ter) c.3430A>T (p.Lys1144Ter) c.2992A>T (p.Lys998Ter) c.3292A>T (p.Lys1098Ter) n.3743A>T | |
| 9 | g.104818770T>C | CA374318758 | ABCA1 | c.3355A>G (p.Lys1119Glu) c.3175A>G (p.Lys1059Glu) c.3430A>G (p.Lys1144Glu) c.2992A>G (p.Lys998Glu) c.3292A>G (p.Lys1098Glu) n.3743A>G | |
| 9 | g.104818770T>G | CA374318759 | ABCA1 | c.3355A>C (p.Lys1119Gln) c.3175A>C (p.Lys1059Gln) c.3430A>C (p.Lys1144Gln) c.2992A>C (p.Lys998Gln) c.3292A>C (p.Lys1098Gln) n.3743A>C | |
| 9 | g.104818771C>A | CA466506004 | ABCA1 | c.3354G>T (p.Leu1118=) c.3174G>T (p.Leu1058=) c.3429G>T (p.Leu1143=) c.2991G>T (p.Leu997=) c.3291G>T (p.Leu1097=) n.3742G>T | |
| 9 | g.104818771C>G | CA466506005 | ABCA1 | c.3354G>C (p.Leu1118=) c.3174G>C (p.Leu1058=) c.3429G>C (p.Leu1143=) c.2991G>C (p.Leu997=) c.3291G>C (p.Leu1097=) n.3742G>C | gnomAD v4 |
| 9 | g.104818771C>T | CA466506006 | ABCA1 | c.3354G>A (p.Leu1118=) c.3174G>A (p.Leu1058=) c.3429G>A (p.Leu1143=) c.2991G>A (p.Leu997=) c.3291G>A (p.Leu1097=) n.3742G>A | dbSNP |
| 9 | g.104818772A>C | CA374318760 | ABCA1 | c.3353T>G (p.Leu1118Arg) c.3173T>G (p.Leu1058Arg) c.3428T>G (p.Leu1143Arg) c.2990T>G (p.Leu997Arg) c.3290T>G (p.Leu1097Arg) n.3741T>G | |
| 9 | g.104818772A>G | CA374318761 | ABCA1 | c.3353T>C (p.Leu1118Pro) c.3173T>C (p.Leu1058Pro) c.3428T>C (p.Leu1143Pro) c.2990T>C (p.Leu997Pro) c.3290T>C (p.Leu1097Pro) n.3741T>C | |
| 9 | g.104818772A>T | CA374318762 | ABCA1 | c.3353T>A (p.Leu1118Gln) c.3173T>A (p.Leu1058Gln) c.3428T>A (p.Leu1143Gln) c.2990T>A (p.Leu997Gln) c.3290T>A (p.Leu1097Gln) n.3741T>A | |
| 9 | g.104818773G>A | CA466506007 | ABCA1 | c.3352C>T (p.Leu1118=) c.3172C>T (p.Leu1058=) c.3427C>T (p.Leu1143=) c.2989C>T (p.Leu997=) c.3289C>T (p.Leu1097=) n.3740C>T | |
| 9 | g.104818773G>C | CA374318763 | ABCA1 | c.3352C>G (p.Leu1118Val) c.3172C>G (p.Leu1058Val) c.3427C>G (p.Leu1143Val) c.2989C>G (p.Leu997Val) c.3289C>G (p.Leu1097Val) n.3740C>G | |
| 9 | g.104818773G= | CA1869947780 | ABCA1 | c.3352C= (p.Leu1118=) c.3172C= (p.Leu1058=) c.3427C= (p.Leu1143=) c.2989C= (p.Leu997=) c.3289C= (p.Leu1097=) n.3740C= | |
| 9 | g.104818773G>T | CA374318764 | ABCA1 | c.3352C>A (p.Leu1118Met) c.3172C>A (p.Leu1058Met) c.3427C>A (p.Leu1143Met) c.2989C>A (p.Leu997Met) c.3289C>A (p.Leu1097Met) n.3740C>A | |
| 9 | g.104818774A= | CA1869947785 | ABCA1 | c.3351T= (p.Phe1117=) c.3171T= (p.Phe1057=) c.3426T= (p.Phe1142=) c.2988T= (p.Phe996=) c.3288T= (p.Phe1096=) n.3739T= | |
| 9 | g.104818774A>C | CA374318765 | ABCA1 | c.3351T>G (p.Phe1117Leu) c.3171T>G (p.Phe1057Leu) c.3426T>G (p.Phe1142Leu) c.2988T>G (p.Phe996Leu) c.3288T>G (p.Phe1096Leu) n.3739T>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104818774A>G | CA466506008 | ABCA1 | c.3351T>C (p.Phe1117=) c.3171T>C (p.Phe1057=) c.3426T>C (p.Phe1142=) c.2988T>C (p.Phe996=) c.3288T>C (p.Phe1096=) n.3739T>C | |
| 9 | g.104818774A>T | CA374318766 | ABCA1 | c.3351T>A (p.Phe1117Leu) c.3171T>A (p.Phe1057Leu) c.3426T>A (p.Phe1142Leu) c.2988T>A (p.Phe996Leu) c.3288T>A (p.Phe1096Leu) n.3739T>A | |
| 9 | g.104818776dup | CA1869947784 | ABCA1 | c.3351dup (p.Leu1118SerfsTer29) c.3171dup (p.Leu1058SerfsTer29) c.3426dup (p.Leu1143SerfsTer29) c.2988dup (p.Leu997SerfsTer29) c.3288dup (p.Leu1097SerfsTer29) n.3739dup | dbSNP gnomAD v4 |
| 9 | g.104818775A>C | CA374318768 | ABCA1 | c.3350T>G (p.Phe1117Cys) c.3170T>G (p.Phe1057Cys) c.3425T>G (p.Phe1142Cys) c.2987T>G (p.Phe996Cys) c.3287T>G (p.Phe1096Cys) n.3738T>G | |
| 9 | g.104818775A>G | CA374318769 | ABCA1 | c.3350T>C (p.Phe1117Ser) c.3170T>C (p.Phe1057Ser) c.3425T>C (p.Phe1142Ser) c.2987T>C (p.Phe996Ser) c.3287T>C (p.Phe1096Ser) n.3738T>C | gnomAD v4 |
| 9 | g.104818775A>T | CA374318767 | ABCA1 | c.3350T>A (p.Phe1117Tyr) c.3170T>A (p.Phe1057Tyr) c.3425T>A (p.Phe1142Tyr) c.2987T>A (p.Phe996Tyr) c.3287T>A (p.Phe1096Tyr) n.3738T>A | |
| 9 | g.104818776A>C | CA374318770 | ABCA1 | c.3349T>G (p.Phe1117Val) c.3169T>G (p.Phe1057Val) c.3424T>G (p.Phe1142Val) c.2986T>G (p.Phe996Val) c.3286T>G (p.Phe1096Val) n.3737T>G | |
| 9 | g.104818776A>G | CA374318771 | ABCA1 | c.3349T>C (p.Phe1117Leu) c.3169T>C (p.Phe1057Leu) c.3424T>C (p.Phe1142Leu) c.2986T>C (p.Phe996Leu) c.3286T>C (p.Phe1096Leu) n.3737T>C | |
| 9 | g.104818776A>T | CA374318772 | ABCA1 | c.3349T>A (p.Phe1117Ile) c.3169T>A (p.Phe1057Ile) c.3424T>A (p.Phe1142Ile) c.2986T>A (p.Phe996Ile) c.3286T>A (p.Phe1096Ile) n.3737T>A | |
| 9 | g.104818777C>A | CA466506009 | ABCA1 | c.3348G>T (p.Leu1116=) c.3168G>T (p.Leu1056=) c.3423G>T (p.Leu1141=) c.2985G>T (p.Leu995=) c.3285G>T (p.Leu1095=) n.3736G>T | |
| 9 | g.104818777C= | CA1869947791 | ABCA1 | c.3348G= (p.Leu1116=) c.3168G= (p.Leu1056=) c.3423G= (p.Leu1141=) c.2985G= (p.Leu995=) c.3285G= (p.Leu1095=) n.3736G= | |
| 9 | g.104818777C>G | CA466506010 | ABCA1 | c.3348G>C (p.Leu1116=) c.3168G>C (p.Leu1056=) c.3423G>C (p.Leu1141=) c.2985G>C (p.Leu995=) c.3285G>C (p.Leu1095=) n.3736G>C | |
| 9 | g.104818777C>T | CA5168464 | ABCA1 | c.3348G>A (p.Leu1116=) c.3168G>A (p.Leu1056=) c.3423G>A (p.Leu1141=) c.2985G>A (p.Leu995=) c.3285G>A (p.Leu1095=) n.3736G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818778A>C | CA374318773 | ABCA1 | c.3347T>G (p.Leu1116Arg) c.3167T>G (p.Leu1056Arg) c.3422T>G (p.Leu1141Arg) c.2984T>G (p.Leu995Arg) c.3284T>G (p.Leu1095Arg) n.3735T>G | |
| 9 | g.104818778A>G | CA374318774 | ABCA1 | c.3347T>C (p.Leu1116Pro) c.3167T>C (p.Leu1056Pro) c.3422T>C (p.Leu1141Pro) c.2984T>C (p.Leu995Pro) c.3284T>C (p.Leu1095Pro) n.3735T>C | |
| 9 | g.104818778A>T | CA374318775 | ABCA1 | c.3347T>A (p.Leu1116Gln) c.3167T>A (p.Leu1056Gln) c.3422T>A (p.Leu1141Gln) c.2984T>A (p.Leu995Gln) c.3284T>A (p.Leu1095Gln) n.3735T>A | |
| 9 | g.104818779G>A | CA466506012 | ABCA1 | c.3346C>T (p.Leu1116=) c.3166C>T (p.Leu1056=) c.3421C>T (p.Leu1141=) c.2983C>T (p.Leu995=) c.3283C>T (p.Leu1095=) n.3734C>T | gnomAD v4 |
| 9 | g.104818779G>C | CA374318776 | ABCA1 | c.3346C>G (p.Leu1116Val) c.3166C>G (p.Leu1056Val) c.3421C>G (p.Leu1141Val) c.2983C>G (p.Leu995Val) c.3283C>G (p.Leu1095Val) n.3734C>G | gnomAD v4 |
| 9 | g.104818779G>T | CA374318777 | ABCA1 | c.3346C>A (p.Leu1116Met) c.3166C>A (p.Leu1056Met) c.3421C>A (p.Leu1141Met) c.2983C>A (p.Leu995Met) c.3283C>A (p.Leu1095Met) n.3734C>A | |
| 9 | g.104818780G>A | CA466506013 | ABCA1 | c.3345C>T (p.Ser1115=) c.3165C>T (p.Ser1055=) c.3420C>T (p.Ser1140=) c.2982C>T (p.Ser994=) c.3282C>T (p.Ser1094=) n.3733C>T | |
| 9 | g.104818780G>C | CA466506014 | ABCA1 | c.3345C>G (p.Ser1115=) c.3165C>G (p.Ser1055=) c.3420C>G (p.Ser1140=) c.2982C>G (p.Ser994=) c.3282C>G (p.Ser1094=) n.3733C>G | |
| 9 | g.104818780G= | CA1869947796 | ABCA1 | c.3345C= (p.Ser1115=) c.3165C= (p.Ser1055=) c.3420C= (p.Ser1140=) c.2982C= (p.Ser994=) c.3282C= (p.Ser1094=) n.3733C= | |
| 9 | g.104818780G>T | CA5168465 | ABCA1 | c.3345C>A (p.Ser1115=) c.3165C>A (p.Ser1055=) c.3420C>A (p.Ser1140=) c.2982C>A (p.Ser994=) c.3282C>A (p.Ser1094=) n.3733C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818780_104818782delinsGGA | CA1869947800 | ABCA1 | c.3343_3345delinsTCC (p.Ser1115=) c.3163_3165delinsTCC (p.Ser1055=) c.3418_3420delinsTCC (p.Ser1140=) c.2980_2982delinsTCC (p.Ser994=) c.3280_3282delinsTCC (p.Ser1094=) n.3731_3733delinsTCC | |
| 9 | g.104818781G>A | CA374318779 | ABCA1 | c.3344C>T (p.Ser1115Phe) c.3164C>T (p.Ser1055Phe) c.3419C>T (p.Ser1140Phe) c.2981C>T (p.Ser994Phe) c.3281C>T (p.Ser1094Phe) n.3732C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104818781G>C | CA374318780 | ABCA1 | c.3344C>G (p.Ser1115Cys) c.3164C>G (p.Ser1055Cys) c.3419C>G (p.Ser1140Cys) c.2981C>G (p.Ser994Cys) c.3281C>G (p.Ser1094Cys) n.3732C>G | |
| 9 | g.104818781G= | CA1869947809 | ABCA1 | c.3344C= (p.Ser1115=) c.3164C= (p.Ser1055=) c.3419C= (p.Ser1140=) c.2981C= (p.Ser994=) c.3281C= (p.Ser1094=) n.3732C= | |
| 9 | g.104818781G>T | CA374318778 | ABCA1 | c.3344C>A (p.Ser1115Tyr) c.3164C>A (p.Ser1055Tyr) c.3419C>A (p.Ser1140Tyr) c.2981C>A (p.Ser994Tyr) c.3281C>A (p.Ser1094Tyr) n.3732C>A | |
| 9 | g.104818782_104818783del | CA120484 | ABCA1 | c.3343_3344del (p.Ser1115ProfsTer?) c.3163_3164del (p.Ser1055ProfsTer?) c.3418_3419del (p.Ser1140ProfsTer?) c.2980_2981del (p.Ser994ProfsTer?) c.3280_3281del (p.Ser1094ProfsTer?) n.3731_3732del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104818782A>C | CA374318781 | ABCA1 | c.3343T>G (p.Ser1115Ala) c.3163T>G (p.Ser1055Ala) c.3418T>G (p.Ser1140Ala) c.2980T>G (p.Ser994Ala) c.3280T>G (p.Ser1094Ala) n.3731T>G | |
| 9 | g.104818782A>G | CA374318782 | ABCA1 | c.3343T>C (p.Ser1115Pro) c.3163T>C (p.Ser1055Pro) c.3418T>C (p.Ser1140Pro) c.2980T>C (p.Ser994Pro) c.3280T>C (p.Ser1094Pro) n.3731T>C | gnomAD v4 |
| 9 | g.104818782A>T | CA374318783 | ABCA1 | c.3343T>A (p.Ser1115Thr) c.3163T>A (p.Ser1055Thr) c.3418T>A (p.Ser1140Thr) c.2980T>A (p.Ser994Thr) c.3280T>A (p.Ser1094Thr) n.3731T>A | |
| 9 | g.104818783G>A | CA197383194 | ABCA1 | c.3342C>T (p.Ser1114=) c.3162C>T (p.Ser1054=) c.3417C>T (p.Ser1139=) c.2979C>T (p.Ser993=) c.3279C>T (p.Ser1093=) n.3730C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104818783G>C | CA466506015 | ABCA1 | c.3342C>G (p.Ser1114=) c.3162C>G (p.Ser1054=) c.3417C>G (p.Ser1139=) c.2979C>G (p.Ser993=) c.3279C>G (p.Ser1093=) n.3730C>G | |
| 9 | g.104818783G= | CA1869947820 | ABCA1 | c.3342C= (p.Ser1114=) c.3162C= (p.Ser1054=) c.3417C= (p.Ser1139=) c.2979C= (p.Ser993=) c.3279C= (p.Ser1093=) n.3730C= | |
| 9 | g.104818783G>T | CA5168466 | ABCA1 | c.3342C>A (p.Ser1114=) c.3162C>A (p.Ser1054=) c.3417C>A (p.Ser1139=) c.2979C>A (p.Ser993=) c.3279C>A (p.Ser1093=) n.3730C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818784G>A | CA374318786 | ABCA1 | c.3341C>T (p.Ser1114Phe) c.3161C>T (p.Ser1054Phe) c.3416C>T (p.Ser1139Phe) c.2978C>T (p.Ser993Phe) c.3278C>T (p.Ser1093Phe) n.3729C>T | COSMIC |
| 9 | g.104818784G>C | CA374318784 | ABCA1 | c.3341C>G (p.Ser1114Cys) c.3161C>G (p.Ser1054Cys) c.3416C>G (p.Ser1139Cys) c.2978C>G (p.Ser993Cys) c.3278C>G (p.Ser1093Cys) n.3729C>G | |
| 9 | g.104818784G>T | CA374318785 | ABCA1 | c.3341C>A (p.Ser1114Tyr) c.3161C>A (p.Ser1054Tyr) c.3416C>A (p.Ser1139Tyr) c.2978C>A (p.Ser993Tyr) c.3278C>A (p.Ser1093Tyr) n.3729C>A | gnomAD v4 |
| 9 | g.104818785A>C | CA374318787 | ABCA1 | c.3340T>G (p.Ser1114Ala) c.3160T>G (p.Ser1054Ala) c.3415T>G (p.Ser1139Ala) c.2977T>G (p.Ser993Ala) c.3277T>G (p.Ser1093Ala) n.3728T>G | |
| 9 | g.104818785A>G | CA374318788 | ABCA1 | c.3340T>C (p.Ser1114Pro) c.3160T>C (p.Ser1054Pro) c.3415T>C (p.Ser1139Pro) c.2977T>C (p.Ser993Pro) c.3277T>C (p.Ser1093Pro) n.3728T>C | gnomAD v4 |
| 9 | g.104818785A>T | CA374318789 | ABCA1 | c.3340T>A (p.Ser1114Thr) c.3160T>A (p.Ser1054Thr) c.3415T>A (p.Ser1139Thr) c.2977T>A (p.Ser993Thr) c.3277T>A (p.Ser1093Thr) n.3728T>A | |
| 9 | g.104818786G>A | CA466506016 | ABCA1 | c.3339C>T (p.Gly1113=) c.3159C>T (p.Gly1053=) c.3414C>T (p.Gly1138=) c.2976C>T (p.Gly992=) c.3276C>T (p.Gly1092=) n.3727C>T | |
| 9 | g.104818786G>C | CA466506017 | ABCA1 | c.3339C>G (p.Gly1113=) c.3159C>G (p.Gly1053=) c.3414C>G (p.Gly1138=) c.2976C>G (p.Gly992=) c.3276C>G (p.Gly1092=) n.3727C>G | |
| 9 | g.104818786G>T | CA466506018 | ABCA1 | c.3339C>A (p.Gly1113=) c.3159C>A (p.Gly1053=) c.3414C>A (p.Gly1138=) c.2976C>A (p.Gly992=) c.3276C>A (p.Gly1092=) n.3727C>A | |
| 9 | g.104818787C>A | CA374318790 | ABCA1 | c.3338G>T (p.Gly1113Val) c.3158G>T (p.Gly1053Val) c.3413G>T (p.Gly1138Val) c.2975G>T (p.Gly992Val) c.3275G>T (p.Gly1092Val) n.3726G>T | |
| 9 | g.104818787C>G | CA374318791 | ABCA1 | c.3338G>C (p.Gly1113Ala) c.3158G>C (p.Gly1053Ala) c.3413G>C (p.Gly1138Ala) c.2975G>C (p.Gly992Ala) c.3275G>C (p.Gly1092Ala) n.3726G>C | |
| 9 | g.104818787C>T | CA374318792 | ABCA1 | c.3338G>A (p.Gly1113Asp) c.3158G>A (p.Gly1053Asp) c.3413G>A (p.Gly1138Asp) c.2975G>A (p.Gly992Asp) c.3275G>A (p.Gly1092Asp) n.3726G>A | |
| 9 | g.104818788C>A | CA374318794 | ABCA1 | c.3337G>T (p.Gly1113Cys) c.3157G>T (p.Gly1053Cys) c.3412G>T (p.Gly1138Cys) c.2974G>T (p.Gly992Cys) c.3274G>T (p.Gly1092Cys) n.3725G>T | |
| 9 | g.104818788C>G | CA374318795 | ABCA1 | c.3337G>C (p.Gly1113Arg) c.3157G>C (p.Gly1053Arg) c.3412G>C (p.Gly1138Arg) c.2974G>C (p.Gly992Arg) c.3274G>C (p.Gly1092Arg) n.3725G>C | |
| 9 | g.104818788C>T | CA374318793 | ABCA1 | c.3337G>A (p.Gly1113Ser) c.3157G>A (p.Gly1053Ser) c.3412G>A (p.Gly1138Ser) c.2974G>A (p.Gly992Ser) c.3274G>A (p.Gly1092Ser) n.3725G>A | |
| 9 | g.104818789C>A | CA466506019 | ABCA1 | c.3336G>T (p.Val1112=) c.3156G>T (p.Val1052=) c.3411G>T (p.Val1137=) c.2973G>T (p.Val991=) c.3273G>T (p.Val1091=) n.3724G>T | |
| 9 | g.104818789C>G | CA466506020 | ABCA1 | c.3336G>C (p.Val1112=) c.3156G>C (p.Val1052=) c.3411G>C (p.Val1137=) c.2973G>C (p.Val991=) c.3273G>C (p.Val1091=) n.3724G>C | |
| 9 | g.104818789C>T | CA466506021 | ABCA1 | c.3336G>A (p.Val1112=) c.3156G>A (p.Val1052=) c.3411G>A (p.Val1137=) c.2973G>A (p.Val991=) c.3273G>A (p.Val1091=) n.3724G>A | |
| 9 | g.104818790A>C | CA374318797 | ABCA1 | c.3335T>G (p.Val1112Gly) c.3155T>G (p.Val1052Gly) c.3410T>G (p.Val1137Gly) c.2972T>G (p.Val991Gly) c.3272T>G (p.Val1091Gly) n.3723T>G | |
| 9 | g.104818790A>G | CA374318796 | ABCA1 | c.3335T>C (p.Val1112Ala) c.3155T>C (p.Val1052Ala) c.3410T>C (p.Val1137Ala) c.2972T>C (p.Val991Ala) c.3272T>C (p.Val1091Ala) n.3723T>C | gnomAD v4 |
| 9 | g.104818790A>T | CA374318798 | ABCA1 | c.3335T>A (p.Val1112Glu) c.3155T>A (p.Val1052Glu) c.3410T>A (p.Val1137Glu) c.2972T>A (p.Val991Glu) c.3272T>A (p.Val1091Glu) n.3723T>A | gnomAD v4 |
| 9 | g.104818791C>A | CA5168467 | ABCA1 | c.3334G>T (p.Val1112Leu) c.3154G>T (p.Val1052Leu) c.3409G>T (p.Val1137Leu) c.2971G>T (p.Val991Leu) c.3271G>T (p.Val1091Leu) n.3722G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818791C= | CA1869947825 | ABCA1 | c.3334G= (p.Val1112=) c.3154G= (p.Val1052=) c.3409G= (p.Val1137=) c.2971G= (p.Val991=) c.3271G= (p.Val1091=) n.3722G= | |
| 9 | g.104818791C>G | CA374318799 | ABCA1 | c.3334G>C (p.Val1112Leu) c.3154G>C (p.Val1052Leu) c.3409G>C (p.Val1137Leu) c.2971G>C (p.Val991Leu) c.3271G>C (p.Val1091Leu) n.3722G>C | |
| 9 | g.104818791C>T | CA374318800 | ABCA1 | c.3334G>A (p.Val1112Met) c.3154G>A (p.Val1052Met) c.3409G>A (p.Val1137Met) c.2971G>A (p.Val991Met) c.3271G>A (p.Val1091Met) n.3722G>A | |
| 9 | g.104818792A>C | CA374318801 | ABCA1 | c.3333T>G (p.Cys1111Trp) c.3153T>G (p.Cys1051Trp) c.3408T>G (p.Cys1136Trp) c.2970T>G (p.Cys990Trp) c.3270T>G (p.Cys1090Trp) n.3721T>G | gnomAD v4 |
| 9 | g.104818792A>G | CA466506022 | ABCA1 | c.3333T>C (p.Cys1111=) c.3153T>C (p.Cys1051=) c.3408T>C (p.Cys1136=) c.2970T>C (p.Cys990=) c.3270T>C (p.Cys1090=) n.3721T>C | |
| 9 | g.104818792A>T | CA374318802 | ABCA1 | c.3333T>A (p.Cys1111Ter) c.3153T>A (p.Cys1051Ter) c.3408T>A (p.Cys1136Ter) c.2970T>A (p.Cys990Ter) c.3270T>A (p.Cys1090Ter) n.3721T>A | COSMIC |
| 9 | g.104818792_104818793insACAACCCAAACACACC | CA2785407066 | ABCA1 | c.3332_3333insGGTGTGTTTGGGTTGT (p.Cys1111TrpfsTer?) c.3152_3153insGGTGTGTTTGGGTTGT (p.Cys1051TrpfsTer?) c.3407_3408insGGTGTGTTTGGGTTGT (p.Cys1136TrpfsTer?) c.2969_2970insGGTGTGTTTGGGTTGT (p.Cys990TrpfsTer?) c.3269_3270insGGTGTGTTTGGGTTGT (p.Cys1090TrpfsTer?) n.3720_3721insGGTGTGTTTGGGTTGT | |
| 9 | g.104818793C>A | CA374318803 | ABCA1 | c.3332G>T (p.Cys1111Phe) c.3152G>T (p.Cys1051Phe) c.3407G>T (p.Cys1136Phe) c.2969G>T (p.Cys990Phe) c.3269G>T (p.Cys1090Phe) n.3720G>T | |
| 9 | g.104818793C= | CA1869947826 | ABCA1 | c.3332G= (p.Cys1111=) c.3152G= (p.Cys1051=) c.3407G= (p.Cys1136=) c.2969G= (p.Cys990=) c.3269G= (p.Cys1090=) n.3720G= | |
| 9 | g.104818793C>G | CA374318804 | ABCA1 | c.3332G>C (p.Cys1111Ser) c.3152G>C (p.Cys1051Ser) c.3407G>C (p.Cys1136Ser) c.2969G>C (p.Cys990Ser) c.3269G>C (p.Cys1090Ser) n.3720G>C | dbSNP |
| 9 | g.104818793C>T | CA374318805 | ABCA1 | c.3332G>A (p.Cys1111Tyr) c.3152G>A (p.Cys1051Tyr) c.3407G>A (p.Cys1136Tyr) c.2969G>A (p.Cys990Tyr) c.3269G>A (p.Cys1090Tyr) n.3720G>A | |
| 9 | g.104818794_104818795insCCAAACACCAAACACACCCA | CA2785407068 | ABCA1 | c.3332_3333insGGTGTGTTTGGTGTTTGGTG (p.Cys1111TrpfsTer15) c.3152_3153insGGTGTGTTTGGTGTTTGGTG (p.Cys1051TrpfsTer15) c.3407_3408insGGTGTGTTTGGTGTTTGGTG (p.Cys1136TrpfsTer15) c.2969_2970insGGTGTGTTTGGTGTTTGGTG (p.Cys990TrpfsTer15) c.3269_3270insGGTGTGTTTGGTGTTTGGTG (p.Cys1090TrpfsTer15) n.3720_3721insGGTGTGTTTGGTGTTTGGTG | |
| 9 | g.104818794A>C | CA374318806 | ABCA1 | c.3331T>G (p.Cys1111Gly) c.3151T>G (p.Cys1051Gly) c.3406T>G (p.Cys1136Gly) c.2968T>G (p.Cys990Gly) c.3268T>G (p.Cys1090Gly) n.3719T>G | |
| 9 | g.104818794A>G | CA374318807 | ABCA1 | c.3331T>C (p.Cys1111Arg) c.3151T>C (p.Cys1051Arg) c.3406T>C (p.Cys1136Arg) c.2968T>C (p.Cys990Arg) c.3268T>C (p.Cys1090Arg) n.3719T>C | |
| 9 | g.104818794A>T | CA374318808 | ABCA1 | c.3331T>A (p.Cys1111Ser) c.3151T>A (p.Cys1051Ser) c.3406T>A (p.Cys1136Ser) c.2968T>A (p.Cys990Ser) c.3268T>A (p.Cys1090Ser) n.3719T>A | |
| 9 | g.104818795G>A | CA466506023 | ABCA1 | c.3330C>T (p.Cys1110=) c.3150C>T (p.Cys1050=) c.3405C>T (p.Cys1135=) c.2967C>T (p.Cys989=) c.3267C>T (p.Cys1089=) n.3718C>T | gnomAD v4 |
| 9 | g.104818795G>C | CA10628700 | ABCA1 | c.3330C>G (p.Cys1110Trp) c.3150C>G (p.Cys1050Trp) c.3405C>G (p.Cys1135Trp) c.2967C>G (p.Cys989Trp) c.3267C>G (p.Cys1089Trp) n.3718C>G | ClinVar dbSNP |
| 9 | g.104818795G= | CA1869947833 | ABCA1 | c.3330C= (p.Cys1110=) c.3150C= (p.Cys1050=) c.3405C= (p.Cys1135=) c.2967C= (p.Cys989=) c.3267C= (p.Cys1089=) n.3718C= | |
| 9 | g.104818795G>T | CA374318809 | ABCA1 | c.3330C>A (p.Cys1110Ter) c.3150C>A (p.Cys1050Ter) c.3405C>A (p.Cys1135Ter) c.2967C>A (p.Cys989Ter) c.3267C>A (p.Cys1089Ter) n.3718C>A | |
| 9 | g.104818796C>A | CA374318810 | ABCA1 | c.3329G>T (p.Cys1110Phe) c.3149G>T (p.Cys1050Phe) c.3404G>T (p.Cys1135Phe) c.2966G>T (p.Cys989Phe) c.3266G>T (p.Cys1089Phe) n.3717G>T | dbSNP gnomAD v4 |
| 9 | g.104818796C= | CA1869947840 | ABCA1 | c.3329G= (p.Cys1110=) c.3149G= (p.Cys1050=) c.3404G= (p.Cys1135=) c.2966G= (p.Cys989=) c.3266G= (p.Cys1089=) n.3717G= | |
| 9 | g.104818796C>G | CA374318812 | ABCA1 | c.3329G>C (p.Cys1110Ser) c.3149G>C (p.Cys1050Ser) c.3404G>C (p.Cys1135Ser) c.2966G>C (p.Cys989Ser) c.3266G>C (p.Cys1089Ser) n.3717G>C | |
| 9 | g.104818796C>T | CA374318811 | ABCA1 | c.3329G>A (p.Cys1110Tyr) c.3149G>A (p.Cys1050Tyr) c.3404G>A (p.Cys1135Tyr) c.2966G>A (p.Cys989Tyr) c.3266G>A (p.Cys1089Tyr) n.3717G>A | |
| 9 | g.104818797A>C | CA374318813 | ABCA1 | c.3328T>G (p.Cys1110Gly) c.3148T>G (p.Cys1050Gly) c.3403T>G (p.Cys1135Gly) c.2965T>G (p.Cys989Gly) c.3265T>G (p.Cys1089Gly) n.3716T>G | |
| 9 | g.104818797A>G | CA374318814 | ABCA1 | c.3328T>C (p.Cys1110Arg) c.3148T>C (p.Cys1050Arg) c.3403T>C (p.Cys1135Arg) c.2965T>C (p.Cys989Arg) c.3265T>C (p.Cys1089Arg) n.3716T>C | |
| 9 | g.104818797A>T | CA374318815 | ABCA1 | c.3328T>A (p.Cys1110Ser) c.3148T>A (p.Cys1050Ser) c.3403T>A (p.Cys1135Ser) c.2965T>A (p.Cys989Ser) c.3265T>A (p.Cys1089Ser) n.3716T>A | |
| 9 | g.104818798C>A | CA466506024 | ABCA1 | c.3327G>T (p.Leu1109=) c.3147G>T (p.Leu1049=) c.3402G>T (p.Leu1134=) c.2964G>T (p.Leu988=) c.3264G>T (p.Leu1088=) n.3715G>T | |
| 9 | g.104818798C>G | CA466506026 | ABCA1 | c.3327G>C (p.Leu1109=) c.3147G>C (p.Leu1049=) c.3402G>C (p.Leu1134=) c.2964G>C (p.Leu988=) c.3264G>C (p.Leu1088=) n.3715G>C | |
| 9 | g.104818798C>T | CA466506025 | ABCA1 | c.3327G>A (p.Leu1109=) c.3147G>A (p.Leu1049=) c.3402G>A (p.Leu1134=) c.2964G>A (p.Leu988=) c.3264G>A (p.Leu1088=) n.3715G>A | gnomAD v4 |
| 9 | g.104818799A>C | CA374318816 | ABCA1 | c.3326T>G (p.Leu1109Arg) c.3146T>G (p.Leu1049Arg) c.3401T>G (p.Leu1134Arg) c.2963T>G (p.Leu988Arg) c.3263T>G (p.Leu1088Arg) n.3714T>G | |
| 9 | g.104818799A>G | CA374318817 | ABCA1 | c.3326T>C (p.Leu1109Pro) c.3146T>C (p.Leu1049Pro) c.3401T>C (p.Leu1134Pro) c.2963T>C (p.Leu988Pro) c.3263T>C (p.Leu1088Pro) n.3714T>C | gnomAD v4 |
| 9 | g.104818799A>T | CA374318818 | ABCA1 | c.3326T>A (p.Leu1109Gln) c.3146T>A (p.Leu1049Gln) c.3401T>A (p.Leu1134Gln) c.2963T>A (p.Leu988Gln) c.3263T>A (p.Leu1088Gln) n.3714T>A | |
| 9 | g.104818800G>A | CA466506027 | ABCA1 | c.3325C>T (p.Leu1109=) c.3145C>T (p.Leu1049=) c.3400C>T (p.Leu1134=) c.2962C>T (p.Leu988=) c.3262C>T (p.Leu1088=) n.3713C>T | dbSNP |
| 9 | g.104818800G>C | CA374318819 | ABCA1 | c.3325C>G (p.Leu1109Val) c.3145C>G (p.Leu1049Val) c.3400C>G (p.Leu1134Val) c.2962C>G (p.Leu988Val) c.3262C>G (p.Leu1088Val) n.3713C>G | |
| 9 | g.104818800G= | CA1869947844 | ABCA1 | c.3325C= (p.Leu1109=) c.3145C= (p.Leu1049=) c.3400C= (p.Leu1134=) c.2962C= (p.Leu988=) c.3262C= (p.Leu1088=) n.3713C= | |
| 9 | g.104818800G>T | CA374318820 | ABCA1 | c.3325C>A (p.Leu1109Met) c.3145C>A (p.Leu1049Met) c.3400C>A (p.Leu1134Met) c.2962C>A (p.Leu988Met) c.3262C>A (p.Leu1088Met) n.3713C>A | |
| 9 | g.104818801C>A | CA374318821 | ABCA1 | c.3324G>T (p.Lys1108Asn) c.3144G>T (p.Lys1048Asn) c.3399G>T (p.Lys1133Asn) c.2961G>T (p.Lys987Asn) c.3261G>T (p.Lys1087Asn) n.3712G>T | |
| 9 | g.104818801C>G | CA374318822 | ABCA1 | c.3324G>C (p.Lys1108Asn) c.3144G>C (p.Lys1048Asn) c.3399G>C (p.Lys1133Asn) c.2961G>C (p.Lys987Asn) c.3261G>C (p.Lys1087Asn) n.3712G>C | gnomAD v4 |
| 9 | g.104818801C>T | CA466506028 | ABCA1 | c.3324G>A (p.Lys1108=) c.3144G>A (p.Lys1048=) c.3399G>A (p.Lys1133=) c.2961G>A (p.Lys987=) c.3261G>A (p.Lys1087=) n.3712G>A | |
| 9 | g.104818802T>A | CA374318824 | ABCA1 | c.3323A>T (p.Lys1108Met) c.3143A>T (p.Lys1048Met) c.3398A>T (p.Lys1133Met) c.2960A>T (p.Lys987Met) c.3260A>T (p.Lys1087Met) n.3711A>T | COSMIC |
| 9 | g.104818802T>C | CA374318825 | ABCA1 | c.3323A>G (p.Lys1108Arg) c.3143A>G (p.Lys1048Arg) c.3398A>G (p.Lys1133Arg) c.2960A>G (p.Lys987Arg) c.3260A>G (p.Lys1087Arg) n.3711A>G | |
| 9 | g.104818802T>G | CA374318823 | ABCA1 | c.3323A>C (p.Lys1108Thr) c.3143A>C (p.Lys1048Thr) c.3398A>C (p.Lys1133Thr) c.2960A>C (p.Lys987Thr) c.3260A>C (p.Lys1087Thr) n.3711A>C | |
| 9 | g.104818803T>A | CA374318826 | ABCA1 | c.3322A>T (p.Lys1108Ter) c.3142A>T (p.Lys1048Ter) c.3397A>T (p.Lys1133Ter) c.2959A>T (p.Lys987Ter) c.3259A>T (p.Lys1087Ter) n.3710A>T | |
| 9 | g.104818803T>C | CA374318827 | ABCA1 | c.3322A>G (p.Lys1108Glu) c.3142A>G (p.Lys1048Glu) c.3397A>G (p.Lys1133Glu) c.2959A>G (p.Lys987Glu) c.3259A>G (p.Lys1087Glu) n.3710A>G | |
| 9 | g.104818803T>G | CA374318828 | ABCA1 | c.3322A>C (p.Lys1108Gln) c.3142A>C (p.Lys1048Gln) c.3397A>C (p.Lys1133Gln) c.2959A>C (p.Lys987Gln) c.3259A>C (p.Lys1087Gln) n.3710A>C | |
| 9 | g.104818804C>A | CA466506029 | ABCA1 | c.3321G>T (p.Gly1107=) c.3141G>T (p.Gly1047=) c.3396G>T (p.Gly1132=) c.2958G>T (p.Gly986=) c.3258G>T (p.Gly1086=) n.3709G>T | |
| 9 | g.104818804C>G | CA466506030 | ABCA1 | c.3321G>C (p.Gly1107=) c.3141G>C (p.Gly1047=) c.3396G>C (p.Gly1132=) c.2958G>C (p.Gly986=) c.3258G>C (p.Gly1086=) n.3709G>C | |
| 9 | g.104818804C>T | CA466506031 | ABCA1 | c.3321G>A (p.Gly1107=) c.3141G>A (p.Gly1047=) c.3396G>A (p.Gly1132=) c.2958G>A (p.Gly986=) c.3258G>A (p.Gly1086=) n.3709G>A | |
| 9 | g.104818805C>A | CA374318829 | ABCA1 | c.3320G>T (p.Gly1107Val) c.3140G>T (p.Gly1047Val) c.3395G>T (p.Gly1132Val) c.2957G>T (p.Gly986Val) c.3257G>T (p.Gly1086Val) n.3708G>T | |
| 9 | g.104818805C>G | CA374318830 | ABCA1 | c.3320G>C (p.Gly1107Ala) c.3140G>C (p.Gly1047Ala) c.3395G>C (p.Gly1132Ala) c.2957G>C (p.Gly986Ala) c.3257G>C (p.Gly1086Ala) n.3708G>C | |
| 9 | g.104818805C>T | CA374318831 | ABCA1 | c.3320G>A (p.Gly1107Glu) c.3140G>A (p.Gly1047Glu) c.3395G>A (p.Gly1132Glu) c.2957G>A (p.Gly986Glu) c.3257G>A (p.Gly1086Glu) n.3708G>A | |
| 9 | g.104818806C>A | CA374318834 | ABCA1 | c.3319G>T (p.Gly1107Trp) c.3139G>T (p.Gly1047Trp) c.3394G>T (p.Gly1132Trp) c.2956G>T (p.Gly986Trp) c.3256G>T (p.Gly1086Trp) n.3707G>T | |
| 9 | g.104818806C>G | CA374318832 | ABCA1 | c.3319G>C (p.Gly1107Arg) c.3139G>C (p.Gly1047Arg) c.3394G>C (p.Gly1132Arg) c.2956G>C (p.Gly986Arg) c.3256G>C (p.Gly1086Arg) n.3707G>C | |
| 9 | g.104818806C>T | CA374318833 | ABCA1 | c.3319G>A (p.Gly1107Arg) c.3139G>A (p.Gly1047Arg) c.3394G>A (p.Gly1132Arg) c.2956G>A (p.Gly986Arg) c.3256G>A (p.Gly1086Arg) n.3707G>A | |
| 9 | g.104818807A>C | CA374318835 | ABCA1 | c.3318T>G (p.His1106Gln) c.3138T>G (p.His1046Gln) c.3393T>G (p.His1131Gln) c.2955T>G (p.His985Gln) c.3255T>G (p.His1085Gln) n.3706T>G | |
| 9 | g.104818807A>G | CA466506032 | ABCA1 | c.3318T>C (p.His1106=) c.3138T>C (p.His1046=) c.3393T>C (p.His1131=) c.2955T>C (p.His985=) c.3255T>C (p.His1085=) n.3706T>C | |
| 9 | g.104818807A>T | CA374318836 | ABCA1 | c.3318T>A (p.His1106Gln) c.3138T>A (p.His1046Gln) c.3393T>A (p.His1131Gln) c.2955T>A (p.His985Gln) c.3255T>A (p.His1085Gln) n.3706T>A | |
| 9 | g.104818808T>A | CA374318837 | ABCA1 | c.3317A>T (p.His1106Leu) c.3137A>T (p.His1046Leu) c.3392A>T (p.His1131Leu) c.2954A>T (p.His985Leu) c.3254A>T (p.His1085Leu) n.3705A>T | |
| 9 | g.104818808T>C | CA374318838 | ABCA1 | c.3317A>G (p.His1106Arg) c.3137A>G (p.His1046Arg) c.3392A>G (p.His1131Arg) c.2954A>G (p.His985Arg) c.3254A>G (p.His1085Arg) n.3705A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104818808T>G | CA374318839 | ABCA1 | c.3317A>C (p.His1106Pro) c.3137A>C (p.His1046Pro) c.3392A>C (p.His1131Pro) c.2954A>C (p.His985Pro) c.3254A>C (p.His1085Pro) n.3705A>C | |
| 9 | g.104818808T= | CA1869947849 | ABCA1 | c.3317A= (p.His1106=) c.3137A= (p.His1046=) c.3392A= (p.His1131=) c.2954A= (p.His985=) c.3254A= (p.His1085=) n.3705A= | |
| 9 | g.104818809G>A | CA197383211 | ABCA1 | c.3316C>T (p.His1106Tyr) c.3136C>T (p.His1046Tyr) c.3391C>T (p.His1131Tyr) c.2953C>T (p.His985Tyr) c.3253C>T (p.His1085Tyr) n.3704C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104818809G>C | CA374318841 | ABCA1 | c.3316C>G (p.His1106Asp) c.3136C>G (p.His1046Asp) c.3391C>G (p.His1131Asp) c.2953C>G (p.His985Asp) c.3253C>G (p.His1085Asp) n.3704C>G | |
| 9 | g.104818809G= | CA1869947851 | ABCA1 | c.3316C= (p.His1106=) c.3136C= (p.His1046=) c.3391C= (p.His1131=) c.2953C= (p.His985=) c.3253C= (p.His1085=) n.3704C= | |
| 9 | g.104818809G>T | CA374318840 | ABCA1 | c.3316C>A (p.His1106Asn) c.3136C>A (p.His1046Asn) c.3391C>A (p.His1131Asn) c.2953C>A (p.His985Asn) c.3253C>A (p.His1085Asn) n.3704C>A | |
| 9 | g.104818810G>A | CA466506033 | ABCA1 | c.3315C>T (p.Ser1105=) c.3135C>T (p.Ser1045=) c.3390C>T (p.Ser1130=) c.2952C>T (p.Ser984=) c.3252C>T (p.Ser1084=) n.3703C>T | dbSNP |
| 9 | g.104818810G>C | CA466506034 | ABCA1 | c.3315C>G (p.Ser1105=) c.3135C>G (p.Ser1045=) c.3390C>G (p.Ser1130=) c.2952C>G (p.Ser984=) c.3252C>G (p.Ser1084=) n.3703C>G | |
| 9 | g.104818810G>T | CA466506035 | ABCA1 | c.3315C>A (p.Ser1105=) c.3135C>A (p.Ser1045=) c.3390C>A (p.Ser1130=) c.2952C>A (p.Ser984=) c.3252C>A (p.Ser1084=) n.3703C>A | dbSNP |
| 9 | g.104818811G>A | CA374318842 | ABCA1 | c.3314C>T (p.Ser1105Phe) c.3134C>T (p.Ser1045Phe) c.3389C>T (p.Ser1130Phe) c.2951C>T (p.Ser984Phe) c.3251C>T (p.Ser1084Phe) n.3702C>T | |
| 9 | g.104818811G>C | CA374318843 | ABCA1 | c.3314C>G (p.Ser1105Cys) c.3134C>G (p.Ser1045Cys) c.3389C>G (p.Ser1130Cys) c.2951C>G (p.Ser984Cys) c.3251C>G (p.Ser1084Cys) n.3702C>G | |
| 9 | g.104818811G>T | CA374318844 | ABCA1 | c.3314C>A (p.Ser1105Tyr) c.3134C>A (p.Ser1045Tyr) c.3389C>A (p.Ser1130Tyr) c.2951C>A (p.Ser984Tyr) c.3251C>A (p.Ser1084Tyr) n.3702C>A | |
| 9 | g.104818812A>C | CA374318845 | ABCA1 | c.3313T>G (p.Ser1105Ala) c.3133T>G (p.Ser1045Ala) c.3388T>G (p.Ser1130Ala) c.2950T>G (p.Ser984Ala) c.3250T>G (p.Ser1084Ala) n.3701T>G | |
| 9 | g.104818812A>G | CA374318846 | ABCA1 | c.3313T>C (p.Ser1105Pro) c.3133T>C (p.Ser1045Pro) c.3388T>C (p.Ser1130Pro) c.2950T>C (p.Ser984Pro) c.3250T>C (p.Ser1084Pro) n.3701T>C | |
| 9 | g.104818812A>T | CA374318847 | ABCA1 | c.3313T>A (p.Ser1105Thr) c.3133T>A (p.Ser1045Thr) c.3388T>A (p.Ser1130Thr) c.2950T>A (p.Ser984Thr) c.3250T>A (p.Ser1084Thr) n.3701T>A | |
| 9 | g.104818813G>A | CA466506036 | ABCA1 | c.3312C>T (p.Ile1104=) c.3132C>T (p.Ile1044=) c.3387C>T (p.Ile1129=) c.2949C>T (p.Ile983=) c.3249C>T (p.Ile1083=) n.3700C>T | |
| 9 | g.104818813G>C | CA374318848 | ABCA1 | c.3312C>G (p.Ile1104Met) c.3132C>G (p.Ile1044Met) c.3387C>G (p.Ile1129Met) c.2949C>G (p.Ile983Met) c.3249C>G (p.Ile1083Met) n.3700C>G | |
| 9 | g.104818813G>T | CA466506037 | ABCA1 | c.3312C>A (p.Ile1104=) c.3132C>A (p.Ile1044=) c.3387C>A (p.Ile1129=) c.2949C>A (p.Ile983=) c.3249C>A (p.Ile1083=) n.3700C>A | |
| 9 | g.104818814A>C | CA374318849 | ABCA1 | c.3311T>G (p.Ile1104Ser) c.3131T>G (p.Ile1044Ser) c.3386T>G (p.Ile1129Ser) c.2948T>G (p.Ile983Ser) c.3248T>G (p.Ile1083Ser) n.3699T>G | |
| 9 | g.104818814A>G | CA374318850 | ABCA1 | c.3311T>C (p.Ile1104Thr) c.3131T>C (p.Ile1044Thr) c.3386T>C (p.Ile1129Thr) c.2948T>C (p.Ile983Thr) c.3248T>C (p.Ile1083Thr) n.3699T>C | |
| 9 | g.104818814A>T | CA374318851 | ABCA1 | c.3311T>A (p.Ile1104Asn) c.3131T>A (p.Ile1044Asn) c.3386T>A (p.Ile1129Asn) c.2948T>A (p.Ile983Asn) c.3248T>A (p.Ile1083Asn) n.3699T>A | |
| 9 | g.104818815T>A | CA374318852 | ABCA1 | c.3310A>T (p.Ile1104Phe) c.3130A>T (p.Ile1044Phe) c.3385A>T (p.Ile1129Phe) c.2947A>T (p.Ile983Phe) c.3247A>T (p.Ile1083Phe) n.3698A>T | |
| 9 | g.104818815T>C | CA374318853 | ABCA1 | c.3310A>G (p.Ile1104Val) c.3130A>G (p.Ile1044Val) c.3385A>G (p.Ile1129Val) c.2947A>G (p.Ile983Val) c.3247A>G (p.Ile1083Val) n.3698A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104818815T>G | CA374318854 | ABCA1 | c.3310A>C (p.Ile1104Leu) c.3130A>C (p.Ile1044Leu) c.3385A>C (p.Ile1129Leu) c.2947A>C (p.Ile983Leu) c.3247A>C (p.Ile1083Leu) n.3698A>C | |
| 9 | g.104818815T= | CA1869947857 | ABCA1 | c.3310A= (p.Ile1104=) c.3130A= (p.Ile1044=) c.3385A= (p.Ile1129=) c.2947A= (p.Ile983=) c.3247A= (p.Ile1083=) n.3698A= | |
| 9 | g.104818816del | CA2691053044 | ABCA1 | c.3309del (p.Ile1104SerfsTer15) c.3129del (p.Ile1044SerfsTer15) c.3384del (p.Ile1129SerfsTer15) c.2946del (p.Ile983SerfsTer15) c.3246del (p.Ile1083SerfsTer15) n.3697del | gnomAD v4 |
| 9 | g.104818816G>A | CA466506038 | ABCA1 | c.3309C>T (p.Ile1103=) c.3129C>T (p.Ile1043=) c.3384C>T (p.Ile1128=) c.2946C>T (p.Ile982=) c.3246C>T (p.Ile1082=) n.3697C>T | |
| 9 | g.104818816G>C | CA374318856 | ABCA1 | c.3309C>G (p.Ile1103Met) c.3129C>G (p.Ile1043Met) c.3384C>G (p.Ile1128Met) c.2946C>G (p.Ile982Met) c.3246C>G (p.Ile1082Met) n.3697C>G | |
| 9 | g.104818816G>T | CA466506039 | ABCA1 | c.3309C>A (p.Ile1103=) c.3129C>A (p.Ile1043=) c.3384C>A (p.Ile1128=) c.2946C>A (p.Ile982=) c.3246C>A (p.Ile1082=) n.3697C>A | |
| 9 | g.104818817A>C | CA374318863 | ABCA1 | c.3308T>G (p.Ile1103Ser) c.3128T>G (p.Ile1043Ser) c.3383T>G (p.Ile1128Ser) c.2945T>G (p.Ile982Ser) c.3245T>G (p.Ile1082Ser) n.3696T>G | |
| 9 | g.104818817A>G | CA374318859 | ABCA1 | c.3308T>C (p.Ile1103Thr) c.3128T>C (p.Ile1043Thr) c.3383T>C (p.Ile1128Thr) c.2945T>C (p.Ile982Thr) c.3245T>C (p.Ile1082Thr) n.3696T>C | ClinVar gnomAD v4 |
| 9 | g.104818817A>T | CA374318861 | ABCA1 | c.3308T>A (p.Ile1103Asn) c.3128T>A (p.Ile1043Asn) c.3383T>A (p.Ile1128Asn) c.2945T>A (p.Ile982Asn) c.3245T>A (p.Ile1082Asn) n.3696T>A | |
| 9 | g.104818818T>A | CA374318865 | ABCA1 | c.3307A>T (p.Ile1103Phe) c.3127A>T (p.Ile1043Phe) c.3382A>T (p.Ile1128Phe) c.2944A>T (p.Ile982Phe) c.3244A>T (p.Ile1082Phe) n.3695A>T | |
| 9 | g.104818818T>C | CA5168468 | ABCA1 | c.3307A>G (p.Ile1103Val) c.3127A>G (p.Ile1043Val) c.3382A>G (p.Ile1128Val) c.2944A>G (p.Ile982Val) c.3244A>G (p.Ile1082Val) n.3695A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818818T>G | CA374318868 | ABCA1 | c.3307A>C (p.Ile1103Leu) c.3127A>C (p.Ile1043Leu) c.3382A>C (p.Ile1128Leu) c.2944A>C (p.Ile982Leu) c.3244A>C (p.Ile1082Leu) n.3695A>C | |
| 9 | g.104818818T= | CA1869947861 | ABCA1 | c.3307A= (p.Ile1103=) c.3127A= (p.Ile1043=) c.3382A= (p.Ile1128=) c.2944A= (p.Ile982=) c.3244A= (p.Ile1082=) n.3695A= | |
| 9 | g.104818819G>A | CA466506040 | ABCA1 | c.3306C>T (p.Ala1102=) c.3126C>T (p.Ala1042=) c.3381C>T (p.Ala1127=) c.2943C>T (p.Ala981=) c.3243C>T (p.Ala1081=) n.3694C>T | dbSNP gnomAD v4 |
| 9 | g.104818819G>C | CA466506041 | ABCA1 | c.3306C>G (p.Ala1102=) c.3126C>G (p.Ala1042=) c.3381C>G (p.Ala1127=) c.2943C>G (p.Ala981=) c.3243C>G (p.Ala1081=) n.3694C>G | |
| 9 | g.104818819G= | CA1869947867 | ABCA1 | c.3306C= (p.Ala1102=) c.3126C= (p.Ala1042=) c.3381C= (p.Ala1127=) c.2943C= (p.Ala981=) c.3243C= (p.Ala1081=) n.3694C= | |
| 9 | g.104818819G>T | CA466506042 | ABCA1 | c.3306C>A (p.Ala1102=) c.3126C>A (p.Ala1042=) c.3381C>A (p.Ala1127=) c.2943C>A (p.Ala981=) c.3243C>A (p.Ala1081=) n.3694C>A | |
| 9 | g.104818820G>A | CA374318870 | ABCA1 | c.3305C>T (p.Ala1102Val) c.3125C>T (p.Ala1042Val) c.3380C>T (p.Ala1127Val) c.2942C>T (p.Ala981Val) c.3242C>T (p.Ala1081Val) n.3693C>T | |
| 9 | g.104818820G>C | CA374318871 | ABCA1 | c.3305C>G (p.Ala1102Gly) c.3125C>G (p.Ala1042Gly) c.3380C>G (p.Ala1127Gly) c.2942C>G (p.Ala981Gly) c.3242C>G (p.Ala1081Gly) n.3693C>G | |
| 9 | g.104818820G>T | CA374318873 | ABCA1 | c.3305C>A (p.Ala1102Asp) c.3125C>A (p.Ala1042Asp) c.3380C>A (p.Ala1127Asp) c.2942C>A (p.Ala981Asp) c.3242C>A (p.Ala1081Asp) n.3693C>A | |
| 9 | g.104818821C>A | CA374318875 | ABCA1 | c.3304G>T (p.Ala1102Ser) c.3124G>T (p.Ala1042Ser) c.3379G>T (p.Ala1127Ser) c.2941G>T (p.Ala981Ser) c.3241G>T (p.Ala1081Ser) n.3692G>T | |
| 9 | g.104818821C= | CA1869947874 | ABCA1 | c.3304G= (p.Ala1102=) c.3124G= (p.Ala1042=) c.3379G= (p.Ala1127=) c.2941G= (p.Ala981=) c.3241G= (p.Ala1081=) n.3692G= | |
| 9 | g.104818821C>G | CA374318879 | ABCA1 | c.3304G>C (p.Ala1102Pro) c.3124G>C (p.Ala1042Pro) c.3379G>C (p.Ala1127Pro) c.2941G>C (p.Ala981Pro) c.3241G>C (p.Ala1081Pro) n.3692G>C | |
| 9 | g.104818821C>T | CA374318877 | ABCA1 | c.3304G>A (p.Ala1102Thr) c.3124G>A (p.Ala1042Thr) c.3379G>A (p.Ala1127Thr) c.2941G>A (p.Ala981Thr) c.3241G>A (p.Ala1081Thr) n.3692G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104818822A>C | CA374318880 | ABCA1 | c.3303T>G (p.Ile1101Met) c.3123T>G (p.Ile1041Met) c.3378T>G (p.Ile1126Met) c.2940T>G (p.Ile980Met) c.3240T>G (p.Ile1080Met) n.3691T>G | |
| 9 | g.104818822A>G | CA466506043 | ABCA1 | c.3303T>C (p.Ile1101=) c.3123T>C (p.Ile1041=) c.3378T>C (p.Ile1126=) c.2940T>C (p.Ile980=) c.3240T>C (p.Ile1080=) n.3691T>C | |
| 9 | g.104818822A>T | CA466506044 | ABCA1 | c.3303T>A (p.Ile1101=) c.3123T>A (p.Ile1041=) c.3378T>A (p.Ile1126=) c.2940T>A (p.Ile980=) c.3240T>A (p.Ile1080=) n.3691T>A | |
| 9 | g.104818823A= | CA1869947875 | ABCA1 | c.3302T= (p.Ile1101=) c.3122T= (p.Ile1041=) c.3377T= (p.Ile1126=) c.2939T= (p.Ile980=) c.3239T= (p.Ile1080=) n.3690T= | |
| 9 | g.104818823A>C | CA374318881 | ABCA1 | c.3302T>G (p.Ile1101Ser) c.3122T>G (p.Ile1041Ser) c.3377T>G (p.Ile1126Ser) c.2939T>G (p.Ile980Ser) c.3239T>G (p.Ile1080Ser) n.3690T>G | |
| 9 | g.104818823A>G | CA197383214 | ABCA1 | c.3302T>C (p.Ile1101Thr) c.3122T>C (p.Ile1041Thr) c.3377T>C (p.Ile1126Thr) c.2939T>C (p.Ile980Thr) c.3239T>C (p.Ile1080Thr) n.3690T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104818823A>T | CA374318883 | ABCA1 | c.3302T>A (p.Ile1101Asn) c.3122T>A (p.Ile1041Asn) c.3377T>A (p.Ile1126Asn) c.2939T>A (p.Ile980Asn) c.3239T>A (p.Ile1080Asn) n.3690T>A | |
| 9 | g.104818824T>A | CA374318886 | ABCA1 | c.3301A>T (p.Ile1101Phe) c.3121A>T (p.Ile1041Phe) c.3376A>T (p.Ile1126Phe) c.2938A>T (p.Ile980Phe) c.3238A>T (p.Ile1080Phe) n.3689A>T | dbSNP |
| 9 | g.104818824T>C | CA374318889 | ABCA1 | c.3301A>G (p.Ile1101Val) c.3121A>G (p.Ile1041Val) c.3376A>G (p.Ile1126Val) c.2938A>G (p.Ile980Val) c.3238A>G (p.Ile1080Val) n.3689A>G | dbSNP gnomAD v4 |
| 9 | g.104818824T>G | CA374318887 | ABCA1 | c.3301A>C (p.Ile1101Leu) c.3121A>C (p.Ile1041Leu) c.3376A>C (p.Ile1126Leu) c.2938A>C (p.Ile980Leu) c.3238A>C (p.Ile1080Leu) n.3689A>C | |
| 9 | g.104818824T= | CA1869947878 | ABCA1 | c.3301A= (p.Ile1101=) c.3121A= (p.Ile1041=) c.3376A= (p.Ile1126=) c.2938A= (p.Ile980=) c.3238A= (p.Ile1080=) n.3689A= | |
| 9 | g.104818825C>A | CA374318891 | ABCA1 | c.3300G>T (p.Arg1100Ser) c.3120G>T (p.Arg1040Ser) c.3375G>T (p.Arg1125Ser) c.2937G>T (p.Arg979Ser) c.3237G>T (p.Arg1079Ser) n.3688G>T | |
| 9 | g.104818825C>G | CA374318893 | ABCA1 | c.3300G>C (p.Arg1100Ser) c.3120G>C (p.Arg1040Ser) c.3375G>C (p.Arg1125Ser) c.2937G>C (p.Arg979Ser) c.3237G>C (p.Arg1079Ser) n.3688G>C | |
| 9 | g.104818825C>T | CA466506045 | ABCA1 | c.3300G>A (p.Arg1100=) c.3120G>A (p.Arg1040=) c.3375G>A (p.Arg1125=) c.2937G>A (p.Arg979=) c.3237G>A (p.Arg1079=) n.3688G>A | |
| 9 | g.104818826C>A | CA374318895 | ABCA1 | c.3299G>T (p.Arg1100Met) c.3119G>T (p.Arg1040Met) c.3374G>T (p.Arg1125Met) c.2936G>T (p.Arg979Met) c.3236G>T (p.Arg1079Met) n.3687G>T | |
| 9 | g.104818826C>G | CA374318897 | ABCA1 | c.3299G>C (p.Arg1100Thr) c.3119G>C (p.Arg1040Thr) c.3374G>C (p.Arg1125Thr) c.2936G>C (p.Arg979Thr) c.3236G>C (p.Arg1079Thr) n.3687G>C | |
| 9 | g.104818826C>T | CA374318899 | ABCA1 | c.3299G>A (p.Arg1100Lys) c.3119G>A (p.Arg1040Lys) c.3374G>A (p.Arg1125Lys) c.2936G>A (p.Arg979Lys) c.3236G>A (p.Arg1079Lys) n.3687G>A | |
| 9 | g.104818827T>A | CA374318901 | ABCA1 | c.3298A>T (p.Arg1100Trp) c.3118A>T (p.Arg1040Trp) c.3373A>T (p.Arg1125Trp) c.2935A>T (p.Arg979Trp) c.3235A>T (p.Arg1079Trp) n.3686A>T | |
| 9 | g.104818827T>C | CA374318902 | ABCA1 | c.3298A>G (p.Arg1100Gly) c.3118A>G (p.Arg1040Gly) c.3373A>G (p.Arg1125Gly) c.2935A>G (p.Arg979Gly) c.3235A>G (p.Arg1079Gly) n.3686A>G | |
| 9 | g.104818827T>G | CA466506046 | ABCA1 | c.3298A>C (p.Arg1100=) c.3118A>C (p.Arg1040=) c.3373A>C (p.Arg1125=) c.2935A>C (p.Arg979=) c.3235A>C (p.Arg1079=) n.3686A>C | |
| 9 | g.104818828G>A | CA466506047 | ABCA1 | c.3297C>T (p.Asp1099=) c.3117C>T (p.Asp1039=) c.3372C>T (p.Asp1124=) c.2934C>T (p.Asp978=) c.3234C>T (p.Asp1078=) n.3685C>T | |
| 9 | g.104818828G>C | CA374318905 | ABCA1 | c.3297C>G (p.Asp1099Glu) c.3117C>G (p.Asp1039Glu) c.3372C>G (p.Asp1124Glu) c.2934C>G (p.Asp978Glu) c.3234C>G (p.Asp1078Glu) n.3685C>G | COSMIC |
| 9 | g.104818828G>T | CA374318908 | ABCA1 | c.3297C>A (p.Asp1099Glu) c.3117C>A (p.Asp1039Glu) c.3372C>A (p.Asp1124Glu) c.2934C>A (p.Asp978Glu) c.3234C>A (p.Asp1078Glu) n.3685C>A | |
| 9 | g.104818829T>A | CA374318910 | ABCA1 | c.3296A>T (p.Asp1099Val) c.3116A>T (p.Asp1039Val) c.3371A>T (p.Asp1124Val) c.2933A>T (p.Asp978Val) c.3233A>T (p.Asp1078Val) n.3684A>T | |
| 9 | g.104818829T>C | CA374318912 | ABCA1 | c.3296A>G (p.Asp1099Gly) c.3116A>G (p.Asp1039Gly) c.3371A>G (p.Asp1124Gly) c.2933A>G (p.Asp978Gly) c.3233A>G (p.Asp1078Gly) n.3684A>G | gnomAD v4 |
| 9 | g.104818829T>G | CA5168469 | ABCA1 | c.3296A>C (p.Asp1099Ala) c.3116A>C (p.Asp1039Ala) c.3371A>C (p.Asp1124Ala) c.2933A>C (p.Asp978Ala) c.3233A>C (p.Asp1078Ala) n.3684A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818829T= | CA1869947883 | ABCA1 | c.3296A= (p.Asp1099=) c.3116A= (p.Asp1039=) c.3371A= (p.Asp1124=) c.2933A= (p.Asp978=) c.3233A= (p.Asp1078=) n.3684A= | |
| 9 | g.104818830C>A | CA120489 | ABCA1 | c.3295G>T (p.Asp1099Tyr) c.3115G>T (p.Asp1039Tyr) c.3370G>T (p.Asp1124Tyr) c.2932G>T (p.Asp978Tyr) c.3232G>T (p.Asp1078Tyr) n.3683G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104818830C= | CA1869947890 | ABCA1 | c.3295G= (p.Asp1099=) c.3115G= (p.Asp1039=) c.3370G= (p.Asp1124=) c.2932G= (p.Asp978=) c.3232G= (p.Asp1078=) n.3683G= | |
| 9 | g.104818830C>G | CA374318918 | ABCA1 | c.3295G>C (p.Asp1099His) c.3115G>C (p.Asp1039His) c.3370G>C (p.Asp1124His) c.2932G>C (p.Asp978His) c.3232G>C (p.Asp1078His) n.3683G>C | |
| 9 | g.104818830C>T | CA5168470 | ABCA1 | c.3295G>A (p.Asp1099Asn) c.3115G>A (p.Asp1039Asn) c.3370G>A (p.Asp1124Asn) c.2932G>A (p.Asp978Asn) c.3232G>A (p.Asp1078Asn) n.3683G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104818831C>A | CA466506048 | ABCA1 | c.3294G>T (p.Gly1098=) c.3114G>T (p.Gly1038=) c.3369G>T (p.Gly1123=) c.2931G>T (p.Gly977=) c.3231G>T (p.Gly1077=) n.3682G>T | gnomAD v4 |
| 9 | g.104818831C>G | CA466506050 | ABCA1 | c.3294G>C (p.Gly1098=) c.3114G>C (p.Gly1038=) c.3369G>C (p.Gly1123=) c.2931G>C (p.Gly977=) c.3231G>C (p.Gly1077=) n.3682G>C | |
| 9 | g.104818831C>T | CA466506049 | ABCA1 | c.3294G>A (p.Gly1098=) c.3114G>A (p.Gly1038=) c.3369G>A (p.Gly1123=) c.2931G>A (p.Gly977=) c.3231G>A (p.Gly1077=) n.3682G>A | |
| 9 | g.104818832C>A | CA374318921 | ABCA1 | c.3293G>T (p.Gly1098Val) c.3113G>T (p.Gly1038Val) c.3368G>T (p.Gly1123Val) c.2930G>T (p.Gly977Val) c.3230G>T (p.Gly1077Val) n.3681G>T | |
| 9 | g.104818832C>G | CA374318922 | ABCA1 | c.3293G>C (p.Gly1098Ala) c.3113G>C (p.Gly1038Ala) c.3368G>C (p.Gly1123Ala) c.2930G>C (p.Gly977Ala) c.3230G>C (p.Gly1077Ala) n.3681G>C | |
| 9 | g.104818832C>T | CA374318924 | ABCA1 | c.3293G>A (p.Gly1098Glu) c.3113G>A (p.Gly1038Glu) c.3368G>A (p.Gly1123Glu) c.2930G>A (p.Gly977Glu) c.3230G>A (p.Gly1077Glu) n.3681G>A | |
| 9 | g.104818833C>A | CA374318927 | ABCA1 | c.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 | |
| 9 | g.104818833C>G | CA374318929 | ABCA1 | c.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 | |
| 9 | g.104818833C>T | CA374318931 | ABCA1 | c.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 | |
| 9 | g.104818834C>A | CA466506051 | ABCA1 | c.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 | |
| 9 | g.104818834C= | CA1869947905 | ABCA1 | c.3291G= (p.Leu1097=) c.3111G= (p.Leu1037=) c.3366G= (p.Leu1122=) c.2928G= (p.Leu976=) c.3228G= (p.Leu1076=) n.3679G= | |
| 9 | g.104818834C>G | CA466506052 | ABCA1 | c.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 | |
| 9 | g.104818834C>T | CA197383231 | ABCA1 | c.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 |
| 9 | g.104818835A>C | CA374318934 | ABCA1 | c.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 | |
| 9 | g.104818835A>G | CA374318936 | ABCA1 | c.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 | |
| 9 | g.104818835A>T | CA374318938 | ABCA1 | c.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 | |
| 9 | g.104818836G>A | CA466506053 | ABCA1 | c.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 | |
| 9 | g.104818836G>C | CA374318940 | ABCA1 | c.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 | |
| 9 | g.104818836G>T | CA374318942 | ABCA1 | c.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 | |
| 9 | g.104818837G>A | CA197383241 | ABCA1 | c.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 |
| 9 | g.104818837G>C | CA466506054 | ABCA1 | c.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 | |
| 9 | g.104818837G= | CA1869947913 | ABCA1 | c.3288C= (p.Val1096=) c.3108C= (p.Val1036=) c.3363C= (p.Val1121=) c.2925C= (p.Val975=) c.3225C= (p.Val1075=) n.3676C= | |
| 9 | g.104818837G>T | CA5168471 | ABCA1 | c.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 |
| 9 | g.104818838A>C | CA374318963 | ABCA1 | c.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 | |
| 9 | g.104818838A>G | CA374318949 | ABCA1 | c.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 | |
| 9 | g.104818838A>T | CA374318945 | ABCA1 | c.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 | |
| 9 | g.104818839C>A | CA374318965 | ABCA1 | c.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 | |
| 9 | g.104818839C= | CA1869947924 | ABCA1 | c.3286G= (p.Val1096=) c.3106G= (p.Val1036=) c.3361G= (p.Val1121=) c.2923G= (p.Val975=) c.3223G= (p.Val1075=) n.3674G= | |
| 9 | g.104818839C>G | CA374318967 | ABCA1 | c.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 | |
| 9 | g.104818839C>T | CA5168472 | ABCA1 | c.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 |