Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87402172G>A | CA4326699 | ABCB4 | c.3764C>T (p.Thr1255Met) c.3785C>T (p.Thr1262Met) c.3623C>T (p.Thr1208Met) c.198C>T n.376C>T c.3680C>T (p.Thr1227Met) c.3656C>T (p.Thr1219Met) c.3644C>T (p.Thr1215Met) c.3806C>T (p.Thr1269Met) c.3125C>T (p.Thr1042Met) c.4055C>T (p.Thr1352Met) c.4034C>T (p.Thr1345Met) c.3950C>T (p.Thr1317Met) c.3926C>T (p.Thr1309Met) c.3914C>T (p.Thr1305Met) c.3893C>T (p.Thr1298Met) n.4293C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402172G>C | CA368056701 | ABCB4 | c.3764C>G (p.Thr1255Arg) c.3785C>G (p.Thr1262Arg) c.3623C>G (p.Thr1208Arg) c.198C>G n.376C>G c.3680C>G (p.Thr1227Arg) c.3656C>G (p.Thr1219Arg) c.3644C>G (p.Thr1215Arg) c.3806C>G (p.Thr1269Arg) c.3125C>G (p.Thr1042Arg) c.4055C>G (p.Thr1352Arg) c.4034C>G (p.Thr1345Arg) c.3950C>G (p.Thr1317Arg) c.3926C>G (p.Thr1309Arg) c.3914C>G (p.Thr1305Arg) c.3893C>G (p.Thr1298Arg) n.4293C>G | |
7 | g.87402172G= | CA1723587079 | ABCB4 | c.3764C= (p.Thr1255=) c.3785C= (p.Thr1262=) c.3623C= (p.Thr1208=) c.198C= n.376C= c.3680C= (p.Thr1227=) c.3656C= (p.Thr1219=) c.3644C= (p.Thr1215=) c.3806C= (p.Thr1269=) c.3125C= (p.Thr1042=) c.4055C= (p.Thr1352=) c.4034C= (p.Thr1345=) c.3950C= (p.Thr1317=) c.3926C= (p.Thr1309=) c.3914C= (p.Thr1305=) c.3893C= (p.Thr1298=) n.4293C= | |
7 | g.87402172G>T | CA368056703 | ABCB4 | c.3764C>A (p.Thr1255Lys) c.3785C>A (p.Thr1262Lys) c.3623C>A (p.Thr1208Lys) c.198C>A n.376C>A c.3680C>A (p.Thr1227Lys) c.3656C>A (p.Thr1219Lys) c.3644C>A (p.Thr1215Lys) c.3806C>A (p.Thr1269Lys) c.3125C>A (p.Thr1042Lys) c.4055C>A (p.Thr1352Lys) c.4034C>A (p.Thr1345Lys) c.3950C>A (p.Thr1317Lys) c.3926C>A (p.Thr1309Lys) c.3914C>A (p.Thr1305Lys) c.3893C>A (p.Thr1298Lys) n.4293C>A | |
7 | g.87402173T>A | CA368056705 | ABCB4 | c.3763A>T (p.Thr1255Ser) c.3784A>T (p.Thr1262Ser) c.3622A>T (p.Thr1208Ser) c.197A>T n.375A>T c.3679A>T (p.Thr1227Ser) c.3655A>T (p.Thr1219Ser) c.3643A>T (p.Thr1215Ser) c.3805A>T (p.Thr1269Ser) c.3124A>T (p.Thr1042Ser) c.4054A>T (p.Thr1352Ser) c.4033A>T (p.Thr1345Ser) c.3949A>T (p.Thr1317Ser) c.3925A>T (p.Thr1309Ser) c.3913A>T (p.Thr1305Ser) c.3892A>T (p.Thr1298Ser) n.4292A>T | |
7 | g.87402173T>C | CA368056706 | ABCB4 | c.3763A>G (p.Thr1255Ala) c.3784A>G (p.Thr1262Ala) c.3622A>G (p.Thr1208Ala) c.197A>G n.375A>G c.3679A>G (p.Thr1227Ala) c.3655A>G (p.Thr1219Ala) c.3643A>G (p.Thr1215Ala) c.3805A>G (p.Thr1269Ala) c.3124A>G (p.Thr1042Ala) c.4054A>G (p.Thr1352Ala) c.4033A>G (p.Thr1345Ala) c.3949A>G (p.Thr1317Ala) c.3925A>G (p.Thr1309Ala) c.3913A>G (p.Thr1305Ala) c.3892A>G (p.Thr1298Ala) n.4292A>G | |
7 | g.87402173T>G | CA368056707 | ABCB4 | c.3763A>C (p.Thr1255Pro) c.3784A>C (p.Thr1262Pro) c.3622A>C (p.Thr1208Pro) c.197A>C n.375A>C c.3679A>C (p.Thr1227Pro) c.3655A>C (p.Thr1219Pro) c.3643A>C (p.Thr1215Pro) c.3805A>C (p.Thr1269Pro) c.3124A>C (p.Thr1042Pro) c.4054A>C (p.Thr1352Pro) c.4033A>C (p.Thr1345Pro) c.3949A>C (p.Thr1317Pro) c.3925A>C (p.Thr1309Pro) c.3913A>C (p.Thr1305Pro) c.3892A>C (p.Thr1298Pro) n.4292A>C | |
7 | g.87402174G>A | CA456356114 | ABCB4 | c.3762C>T (p.Gly1254=) c.3783C>T (p.Gly1261=) c.3621C>T (p.Gly1207=) c.196C>T n.374C>T c.3678C>T (p.Gly1226=) c.3654C>T (p.Gly1218=) c.3642C>T (p.Gly1214=) c.3804C>T (p.Gly1268=) c.3123C>T (p.Gly1041=) c.4053C>T (p.Gly1351=) c.4032C>T (p.Gly1344=) c.3948C>T (p.Gly1316=) c.3924C>T (p.Gly1308=) c.3912C>T (p.Gly1304=) c.3891C>T (p.Gly1297=) n.4291C>T | |
7 | g.87402174G>C | CA456356115 | ABCB4 | c.3762C>G (p.Gly1254=) c.3783C>G (p.Gly1261=) c.3621C>G (p.Gly1207=) c.196C>G n.374C>G c.3678C>G (p.Gly1226=) c.3654C>G (p.Gly1218=) c.3642C>G (p.Gly1214=) c.3804C>G (p.Gly1268=) c.3123C>G (p.Gly1041=) c.4053C>G (p.Gly1351=) c.4032C>G (p.Gly1344=) c.3948C>G (p.Gly1316=) c.3924C>G (p.Gly1308=) c.3912C>G (p.Gly1304=) c.3891C>G (p.Gly1297=) n.4291C>G | |
7 | g.87402174G= | CA1723587082 | ABCB4 | c.3762C= (p.Gly1254=) c.3783C= (p.Gly1261=) c.3621C= (p.Gly1207=) c.196C= n.374C= c.3678C= (p.Gly1226=) c.3654C= (p.Gly1218=) c.3642C= (p.Gly1214=) c.3804C= (p.Gly1268=) c.3123C= (p.Gly1041=) c.4053C= (p.Gly1351=) c.4032C= (p.Gly1344=) c.3948C= (p.Gly1316=) c.3924C= (p.Gly1308=) c.3912C= (p.Gly1304=) c.3891C= (p.Gly1297=) n.4291C= | |
7 | g.87402174G>T | CA456356116 | ABCB4 | c.3762C>A (p.Gly1254=) c.3783C>A (p.Gly1261=) c.3621C>A (p.Gly1207=) c.196C>A n.374C>A c.3678C>A (p.Gly1226=) c.3654C>A (p.Gly1218=) c.3642C>A (p.Gly1214=) c.3804C>A (p.Gly1268=) c.3123C>A (p.Gly1041=) c.4053C>A (p.Gly1351=) c.4032C>A (p.Gly1344=) c.3948C>A (p.Gly1316=) c.3924C>A (p.Gly1308=) c.3912C>A (p.Gly1304=) c.3891C>A (p.Gly1297=) n.4291C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87402175C>A | CA368056708 | ABCB4 | c.3761G>T (p.Gly1254Val) c.3782G>T (p.Gly1261Val) c.3620G>T (p.Gly1207Val) c.195G>T n.373G>T c.3677G>T (p.Gly1226Val) c.3653G>T (p.Gly1218Val) c.3641G>T (p.Gly1214Val) c.3803G>T (p.Gly1268Val) c.3122G>T (p.Gly1041Val) c.4052G>T (p.Gly1351Val) c.4031G>T (p.Gly1344Val) c.3947G>T (p.Gly1316Val) c.3923G>T (p.Gly1308Val) c.3911G>T (p.Gly1304Val) c.3890G>T (p.Gly1297Val) n.4290G>T | |
7 | g.87402175C>G | CA368056711 | ABCB4 | c.3761G>C (p.Gly1254Ala) c.3782G>C (p.Gly1261Ala) c.3620G>C (p.Gly1207Ala) c.195G>C n.373G>C c.3677G>C (p.Gly1226Ala) c.3653G>C (p.Gly1218Ala) c.3641G>C (p.Gly1214Ala) c.3803G>C (p.Gly1268Ala) c.3122G>C (p.Gly1041Ala) c.4052G>C (p.Gly1351Ala) c.4031G>C (p.Gly1344Ala) c.3947G>C (p.Gly1316Ala) c.3923G>C (p.Gly1308Ala) c.3911G>C (p.Gly1304Ala) c.3890G>C (p.Gly1297Ala) n.4290G>C | |
7 | g.87402175C>T | CA368056710 | ABCB4 | c.3761G>A (p.Gly1254Asp) c.3782G>A (p.Gly1261Asp) c.3620G>A (p.Gly1207Asp) c.195G>A n.373G>A c.3677G>A (p.Gly1226Asp) c.3653G>A (p.Gly1218Asp) c.3641G>A (p.Gly1214Asp) c.3803G>A (p.Gly1268Asp) c.3122G>A (p.Gly1041Asp) c.4052G>A (p.Gly1351Asp) c.4031G>A (p.Gly1344Asp) c.3947G>A (p.Gly1316Asp) c.3923G>A (p.Gly1308Asp) c.3911G>A (p.Gly1304Asp) c.3890G>A (p.Gly1297Asp) n.4290G>A | |
7 | g.87402176C>A | CA368056713 | ABCB4 | c.3760G>T (p.Gly1254Cys) c.3781G>T (p.Gly1261Cys) c.3619G>T (p.Gly1207Cys) c.194G>T n.372G>T c.3676G>T (p.Gly1226Cys) c.3652G>T (p.Gly1218Cys) c.3640G>T (p.Gly1214Cys) c.3802G>T (p.Gly1268Cys) c.3121G>T (p.Gly1041Cys) c.4051G>T (p.Gly1351Cys) c.4030G>T (p.Gly1344Cys) c.3946G>T (p.Gly1316Cys) c.3922G>T (p.Gly1308Cys) c.3910G>T (p.Gly1304Cys) c.3889G>T (p.Gly1297Cys) n.4289G>T | |
7 | g.87402176C= | CA1723587087 | ABCB4 | c.3760G= (p.Gly1254=) c.3781G= (p.Gly1261=) c.3619G= (p.Gly1207=) c.194G= n.372G= c.3676G= (p.Gly1226=) c.3652G= (p.Gly1218=) c.3640G= (p.Gly1214=) c.3802G= (p.Gly1268=) c.3121G= (p.Gly1041=) c.4051G= (p.Gly1351=) c.4030G= (p.Gly1344=) c.3946G= (p.Gly1316=) c.3922G= (p.Gly1308=) c.3910G= (p.Gly1304=) c.3889G= (p.Gly1297=) n.4289G= | |
7 | g.87402176C>G | CA368056715 | ABCB4 | c.3760G>C (p.Gly1254Arg) c.3781G>C (p.Gly1261Arg) c.3619G>C (p.Gly1207Arg) c.194G>C n.372G>C c.3676G>C (p.Gly1226Arg) c.3652G>C (p.Gly1218Arg) c.3640G>C (p.Gly1214Arg) c.3802G>C (p.Gly1268Arg) c.3121G>C (p.Gly1041Arg) c.4051G>C (p.Gly1351Arg) c.4030G>C (p.Gly1344Arg) c.3946G>C (p.Gly1316Arg) c.3922G>C (p.Gly1308Arg) c.3910G>C (p.Gly1304Arg) c.3889G>C (p.Gly1297Arg) n.4289G>C | |
7 | g.87402176C>T | CA4326700 | ABCB4 | c.3760G>A (p.Gly1254Ser) c.3781G>A (p.Gly1261Ser) c.3619G>A (p.Gly1207Ser) c.194G>A n.372G>A c.3676G>A (p.Gly1226Ser) c.3652G>A (p.Gly1218Ser) c.3640G>A (p.Gly1214Ser) c.3802G>A (p.Gly1268Ser) c.3121G>A (p.Gly1041Ser) c.4051G>A (p.Gly1351Ser) c.4030G>A (p.Gly1344Ser) c.3946G>A (p.Gly1316Ser) c.3922G>A (p.Gly1308Ser) c.3910G>A (p.Gly1304Ser) c.3889G>A (p.Gly1297Ser) n.4289G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402177A>C | CA368056718 | ABCB4 | c.3759T>G (p.His1253Gln) c.3780T>G (p.His1260Gln) c.3618T>G (p.His1206Gln) c.193T>G n.371T>G c.3675T>G (p.His1225Gln) c.3651T>G (p.His1217Gln) c.3639T>G (p.His1213Gln) c.3801T>G (p.His1267Gln) c.3120T>G (p.His1040Gln) c.4050T>G (p.His1350Gln) c.4029T>G (p.His1343Gln) c.3945T>G (p.His1315Gln) c.3921T>G (p.His1307Gln) c.3909T>G (p.His1303Gln) c.3888T>G (p.His1296Gln) n.4288T>G | |
7 | g.87402177A>G | CA456356117 | ABCB4 | c.3759T>C (p.His1253=) c.3780T>C (p.His1260=) c.3618T>C (p.His1206=) c.193T>C n.371T>C c.3675T>C (p.His1225=) c.3651T>C (p.His1217=) c.3639T>C (p.His1213=) c.3801T>C (p.His1267=) c.3120T>C (p.His1040=) c.4050T>C (p.His1350=) c.4029T>C (p.His1343=) c.3945T>C (p.His1315=) c.3921T>C (p.His1307=) c.3909T>C (p.His1303=) c.3888T>C (p.His1296=) n.4288T>C | gnomAD v4 |
7 | g.87402177A>T | CA368056719 | ABCB4 | c.3759T>A (p.His1253Gln) c.3780T>A (p.His1260Gln) c.3618T>A (p.His1206Gln) c.193T>A n.371T>A c.3675T>A (p.His1225Gln) c.3651T>A (p.His1217Gln) c.3639T>A (p.His1213Gln) c.3801T>A (p.His1267Gln) c.3120T>A (p.His1040Gln) c.4050T>A (p.His1350Gln) c.4029T>A (p.His1343Gln) c.3945T>A (p.His1315Gln) c.3921T>A (p.His1307Gln) c.3909T>A (p.His1303Gln) c.3888T>A (p.His1296Gln) n.4288T>A | |
7 | g.87402178T>A | CA368056722 | ABCB4 | c.3758A>T (p.His1253Leu) c.3779A>T (p.His1260Leu) c.3617A>T (p.His1206Leu) c.192A>T n.370A>T c.3674A>T (p.His1225Leu) c.3650A>T (p.His1217Leu) c.3638A>T (p.His1213Leu) c.3800A>T (p.His1267Leu) c.3119A>T (p.His1040Leu) c.4049A>T (p.His1350Leu) c.4028A>T (p.His1343Leu) c.3944A>T (p.His1315Leu) c.3920A>T (p.His1307Leu) c.3908A>T (p.His1303Leu) c.3887A>T (p.His1296Leu) n.4287A>T | |
7 | g.87402178T>C | CA368056721 | ABCB4 | c.3758A>G (p.His1253Arg) c.3779A>G (p.His1260Arg) c.3617A>G (p.His1206Arg) c.192A>G n.370A>G c.3674A>G (p.His1225Arg) c.3650A>G (p.His1217Arg) c.3638A>G (p.His1213Arg) c.3800A>G (p.His1267Arg) c.3119A>G (p.His1040Arg) c.4049A>G (p.His1350Arg) c.4028A>G (p.His1343Arg) c.3944A>G (p.His1315Arg) c.3920A>G (p.His1307Arg) c.3908A>G (p.His1303Arg) c.3887A>G (p.His1296Arg) n.4287A>G | |
7 | g.87402178T>G | CA368056720 | ABCB4 | c.3758A>C (p.His1253Pro) c.3779A>C (p.His1260Pro) c.3617A>C (p.His1206Pro) c.192A>C n.370A>C c.3674A>C (p.His1225Pro) c.3650A>C (p.His1217Pro) c.3638A>C (p.His1213Pro) c.3800A>C (p.His1267Pro) c.3119A>C (p.His1040Pro) c.4049A>C (p.His1350Pro) c.4028A>C (p.His1343Pro) c.3944A>C (p.His1315Pro) c.3920A>C (p.His1307Pro) c.3908A>C (p.His1303Pro) c.3887A>C (p.His1296Pro) n.4287A>C | |
7 | g.87402179G>A | CA368056723 | ABCB4 | c.3757C>T (p.His1253Tyr) c.3778C>T (p.His1260Tyr) c.3616C>T (p.His1206Tyr) c.191C>T n.369C>T c.3673C>T (p.His1225Tyr) c.3649C>T (p.His1217Tyr) c.3637C>T (p.His1213Tyr) c.3799C>T (p.His1267Tyr) c.3118C>T (p.His1040Tyr) c.4048C>T (p.His1350Tyr) c.4027C>T (p.His1343Tyr) c.3943C>T (p.His1315Tyr) c.3919C>T (p.His1307Tyr) c.3907C>T (p.His1303Tyr) c.3886C>T (p.His1296Tyr) n.4286C>T | |
7 | g.87402179G>C | CA368056725 | ABCB4 | c.3757C>G (p.His1253Asp) c.3778C>G (p.His1260Asp) c.3616C>G (p.His1206Asp) c.191C>G n.369C>G c.3673C>G (p.His1225Asp) c.3649C>G (p.His1217Asp) c.3637C>G (p.His1213Asp) c.3799C>G (p.His1267Asp) c.3118C>G (p.His1040Asp) c.4048C>G (p.His1350Asp) c.4027C>G (p.His1343Asp) c.3943C>G (p.His1315Asp) c.3919C>G (p.His1307Asp) c.3907C>G (p.His1303Asp) c.3886C>G (p.His1296Asp) n.4286C>G | |
7 | g.87402179G>T | CA368056724 | ABCB4 | c.3757C>A (p.His1253Asn) c.3778C>A (p.His1260Asn) c.3616C>A (p.His1206Asn) c.191C>A n.369C>A c.3673C>A (p.His1225Asn) c.3649C>A (p.His1217Asn) c.3637C>A (p.His1213Asn) c.3799C>A (p.His1267Asn) c.3118C>A (p.His1040Asn) c.4048C>A (p.His1350Asn) c.4027C>A (p.His1343Asn) c.3943C>A (p.His1315Asn) c.3919C>A (p.His1307Asn) c.3907C>A (p.His1303Asn) c.3886C>A (p.His1296Asn) n.4286C>A | |
7 | g.87402180C>A | CA368056726 | ABCB4 | c.3756G>T (p.Glu1252Asp) c.3777G>T (p.Glu1259Asp) c.3615G>T (p.Glu1205Asp) c.190G>T n.368G>T c.3672G>T (p.Glu1224Asp) c.3648G>T (p.Glu1216Asp) c.3636G>T (p.Glu1212Asp) c.3798G>T (p.Glu1266Asp) c.3117G>T (p.Glu1039Asp) c.4047G>T (p.Glu1349Asp) c.4026G>T (p.Glu1342Asp) c.3942G>T (p.Glu1314Asp) c.3918G>T (p.Glu1306Asp) c.3906G>T (p.Glu1302Asp) c.3885G>T (p.Glu1295Asp) n.4285G>T | |
7 | g.87402180C>G | CA368056727 | ABCB4 | c.3756G>C (p.Glu1252Asp) c.3777G>C (p.Glu1259Asp) c.3615G>C (p.Glu1205Asp) c.190G>C n.368G>C c.3672G>C (p.Glu1224Asp) c.3648G>C (p.Glu1216Asp) c.3636G>C (p.Glu1212Asp) c.3798G>C (p.Glu1266Asp) c.3117G>C (p.Glu1039Asp) c.4047G>C (p.Glu1349Asp) c.4026G>C (p.Glu1342Asp) c.3942G>C (p.Glu1314Asp) c.3918G>C (p.Glu1306Asp) c.3906G>C (p.Glu1302Asp) c.3885G>C (p.Glu1295Asp) n.4285G>C | |
7 | g.87402180C>T | CA456356121 | ABCB4 | c.3756G>A (p.Glu1252=) c.3777G>A (p.Glu1259=) c.3615G>A (p.Glu1205=) c.190G>A n.368G>A c.3672G>A (p.Glu1224=) c.3648G>A (p.Glu1216=) c.3636G>A (p.Glu1212=) c.3798G>A (p.Glu1266=) c.3117G>A (p.Glu1039=) c.4047G>A (p.Glu1349=) c.4026G>A (p.Glu1342=) c.3942G>A (p.Glu1314=) c.3918G>A (p.Glu1306=) c.3906G>A (p.Glu1302=) c.3885G>A (p.Glu1295=) n.4285G>A | |
7 | g.87402181T>A | CA368056728 | ABCB4 | c.3755A>T (p.Glu1252Val) c.3776A>T (p.Glu1259Val) c.3614A>T (p.Glu1205Val) c.189A>T n.367A>T c.3671A>T (p.Glu1224Val) c.3647A>T (p.Glu1216Val) c.3635A>T (p.Glu1212Val) c.3797A>T (p.Glu1266Val) c.3116A>T (p.Glu1039Val) c.4046A>T (p.Glu1349Val) c.4025A>T (p.Glu1342Val) c.3941A>T (p.Glu1314Val) c.3917A>T (p.Glu1306Val) c.3905A>T (p.Glu1302Val) c.3884A>T (p.Glu1295Val) n.4284A>T | |
7 | g.87402181T>C | CA368056729 | ABCB4 | c.3755A>G (p.Glu1252Gly) c.3776A>G (p.Glu1259Gly) c.3614A>G (p.Glu1205Gly) c.189A>G n.367A>G c.3671A>G (p.Glu1224Gly) c.3647A>G (p.Glu1216Gly) c.3635A>G (p.Glu1212Gly) c.3797A>G (p.Glu1266Gly) c.3116A>G (p.Glu1039Gly) c.4046A>G (p.Glu1349Gly) c.4025A>G (p.Glu1342Gly) c.3941A>G (p.Glu1314Gly) c.3917A>G (p.Glu1306Gly) c.3905A>G (p.Glu1302Gly) c.3884A>G (p.Glu1295Gly) n.4284A>G | |
7 | g.87402181T>G | CA368056730 | ABCB4 | c.3755A>C (p.Glu1252Ala) c.3776A>C (p.Glu1259Ala) c.3614A>C (p.Glu1205Ala) c.189A>C n.367A>C c.3671A>C (p.Glu1224Ala) c.3647A>C (p.Glu1216Ala) c.3635A>C (p.Glu1212Ala) c.3797A>C (p.Glu1266Ala) c.3116A>C (p.Glu1039Ala) c.4046A>C (p.Glu1349Ala) c.4025A>C (p.Glu1342Ala) c.3941A>C (p.Glu1314Ala) c.3917A>C (p.Glu1306Ala) c.3905A>C (p.Glu1302Ala) c.3884A>C (p.Glu1295Ala) n.4284A>C | |
7 | g.87402182C>A | CA368056731 | ABCB4 | c.3754G>T (p.Glu1252Ter) c.3775G>T (p.Glu1259Ter) c.3613G>T (p.Glu1205Ter) c.188G>T n.366G>T c.3670G>T (p.Glu1224Ter) c.3646G>T (p.Glu1216Ter) c.3634G>T (p.Glu1212Ter) c.3796G>T (p.Glu1266Ter) c.3115G>T (p.Glu1039Ter) c.4045G>T (p.Glu1349Ter) c.4024G>T (p.Glu1342Ter) c.3940G>T (p.Glu1314Ter) c.3916G>T (p.Glu1306Ter) c.3904G>T (p.Glu1302Ter) c.3883G>T (p.Glu1295Ter) n.4283G>T | |
7 | g.87402182C>G | CA368056732 | ABCB4 | c.3754G>C (p.Glu1252Gln) c.3775G>C (p.Glu1259Gln) c.3613G>C (p.Glu1205Gln) c.188G>C n.366G>C c.3670G>C (p.Glu1224Gln) c.3646G>C (p.Glu1216Gln) c.3634G>C (p.Glu1212Gln) c.3796G>C (p.Glu1266Gln) c.3115G>C (p.Glu1039Gln) c.4045G>C (p.Glu1349Gln) c.4024G>C (p.Glu1342Gln) c.3940G>C (p.Glu1314Gln) c.3916G>C (p.Glu1306Gln) c.3904G>C (p.Glu1302Gln) c.3883G>C (p.Glu1295Gln) n.4283G>C | |
7 | g.87402182C>T | CA368056733 | ABCB4 | c.3754G>A (p.Glu1252Lys) c.3775G>A (p.Glu1259Lys) c.3613G>A (p.Glu1205Lys) c.188G>A n.366G>A c.3670G>A (p.Glu1224Lys) c.3646G>A (p.Glu1216Lys) c.3634G>A (p.Glu1212Lys) c.3796G>A (p.Glu1266Lys) c.3115G>A (p.Glu1039Lys) c.4045G>A (p.Glu1349Lys) c.4024G>A (p.Glu1342Lys) c.3940G>A (p.Glu1314Lys) c.3916G>A (p.Glu1306Lys) c.3904G>A (p.Glu1302Lys) c.3883G>A (p.Glu1295Lys) n.4283G>A | |
7 | g.87402183C>A | CA368056734 | ABCB4 | c.3753G>T (p.Lys1251Asn) c.3774G>T (p.Lys1258Asn) c.3612G>T (p.Lys1204Asn) c.187G>T n.365G>T c.3669G>T (p.Lys1223Asn) c.3645G>T (p.Lys1215Asn) c.3633G>T (p.Lys1211Asn) c.3795G>T (p.Lys1265Asn) c.3114G>T (p.Lys1038Asn) c.4044G>T (p.Lys1348Asn) c.4023G>T (p.Lys1341Asn) c.3939G>T (p.Lys1313Asn) c.3915G>T (p.Lys1305Asn) c.3903G>T (p.Lys1301Asn) c.3882G>T (p.Lys1294Asn) n.4282G>T | |
7 | g.87402183C>G | CA368056735 | ABCB4 | c.3753G>C (p.Lys1251Asn) c.3774G>C (p.Lys1258Asn) c.3612G>C (p.Lys1204Asn) c.187G>C n.365G>C c.3669G>C (p.Lys1223Asn) c.3645G>C (p.Lys1215Asn) c.3633G>C (p.Lys1211Asn) c.3795G>C (p.Lys1265Asn) c.3114G>C (p.Lys1038Asn) c.4044G>C (p.Lys1348Asn) c.4023G>C (p.Lys1341Asn) c.3939G>C (p.Lys1313Asn) c.3915G>C (p.Lys1305Asn) c.3903G>C (p.Lys1301Asn) c.3882G>C (p.Lys1294Asn) n.4282G>C | COSMIC COSMIC |
7 | g.87402183C>T | CA456356125 | ABCB4 | c.3753G>A (p.Lys1251=) c.3774G>A (p.Lys1258=) c.3612G>A (p.Lys1204=) c.187G>A n.365G>A c.3669G>A (p.Lys1223=) c.3645G>A (p.Lys1215=) c.3633G>A (p.Lys1211=) c.3795G>A (p.Lys1265=) c.3114G>A (p.Lys1038=) c.4044G>A (p.Lys1348=) c.4023G>A (p.Lys1341=) c.3939G>A (p.Lys1313=) c.3915G>A (p.Lys1305=) c.3903G>A (p.Lys1301=) c.3882G>A (p.Lys1294=) n.4282G>A | gnomAD v4 |
7 | g.87402184T>A | CA368056736 | ABCB4 | c.3752A>T (p.Lys1251Met) c.3773A>T (p.Lys1258Met) c.3611A>T (p.Lys1204Met) c.186A>T n.364A>T c.3668A>T (p.Lys1223Met) c.3644A>T (p.Lys1215Met) c.3632A>T (p.Lys1211Met) c.3794A>T (p.Lys1265Met) c.3113A>T (p.Lys1038Met) c.4043A>T (p.Lys1348Met) c.4022A>T (p.Lys1341Met) c.3938A>T (p.Lys1313Met) c.3914A>T (p.Lys1305Met) c.3902A>T (p.Lys1301Met) c.3881A>T (p.Lys1294Met) n.4281A>T | |
7 | g.87402184T>C | CA368056737 | ABCB4 | c.3752A>G (p.Lys1251Arg) c.3773A>G (p.Lys1258Arg) c.3611A>G (p.Lys1204Arg) c.186A>G n.364A>G c.3668A>G (p.Lys1223Arg) c.3644A>G (p.Lys1215Arg) c.3632A>G (p.Lys1211Arg) c.3794A>G (p.Lys1265Arg) c.3113A>G (p.Lys1038Arg) c.4043A>G (p.Lys1348Arg) c.4022A>G (p.Lys1341Arg) c.3938A>G (p.Lys1313Arg) c.3914A>G (p.Lys1305Arg) c.3902A>G (p.Lys1301Arg) c.3881A>G (p.Lys1294Arg) n.4281A>G | |
7 | g.87402184T>G | CA368056738 | ABCB4 | c.3752A>C (p.Lys1251Thr) c.3773A>C (p.Lys1258Thr) c.3611A>C (p.Lys1204Thr) c.186A>C n.364A>C c.3668A>C (p.Lys1223Thr) c.3644A>C (p.Lys1215Thr) c.3632A>C (p.Lys1211Thr) c.3794A>C (p.Lys1265Thr) c.3113A>C (p.Lys1038Thr) c.4043A>C (p.Lys1348Thr) c.4022A>C (p.Lys1341Thr) c.3938A>C (p.Lys1313Thr) c.3914A>C (p.Lys1305Thr) c.3902A>C (p.Lys1301Thr) c.3881A>C (p.Lys1294Thr) n.4281A>C | |
7 | g.87402185T>A | CA368056739 | ABCB4 | c.3751A>T (p.Lys1251Ter) c.3772A>T (p.Lys1258Ter) c.3610A>T (p.Lys1204Ter) c.185A>T n.363A>T c.3667A>T (p.Lys1223Ter) c.3643A>T (p.Lys1215Ter) c.3631A>T (p.Lys1211Ter) c.3793A>T (p.Lys1265Ter) c.3112A>T (p.Lys1038Ter) c.4042A>T (p.Lys1348Ter) c.4021A>T (p.Lys1341Ter) c.3937A>T (p.Lys1313Ter) c.3913A>T (p.Lys1305Ter) c.3901A>T (p.Lys1301Ter) c.3880A>T (p.Lys1294Ter) n.4280A>T | |
7 | g.87402185T>C | CA368056741 | ABCB4 | c.3751A>G (p.Lys1251Glu) c.3772A>G (p.Lys1258Glu) c.3610A>G (p.Lys1204Glu) c.185A>G n.363A>G c.3667A>G (p.Lys1223Glu) c.3643A>G (p.Lys1215Glu) c.3631A>G (p.Lys1211Glu) c.3793A>G (p.Lys1265Glu) c.3112A>G (p.Lys1038Glu) c.4042A>G (p.Lys1348Glu) c.4021A>G (p.Lys1341Glu) c.3937A>G (p.Lys1313Glu) c.3913A>G (p.Lys1305Glu) c.3901A>G (p.Lys1301Glu) c.3880A>G (p.Lys1294Glu) n.4280A>G | |
7 | g.87402185T>G | CA368056740 | ABCB4 | c.3751A>C (p.Lys1251Gln) c.3772A>C (p.Lys1258Gln) c.3610A>C (p.Lys1204Gln) c.185A>C n.363A>C c.3667A>C (p.Lys1223Gln) c.3643A>C (p.Lys1215Gln) c.3631A>C (p.Lys1211Gln) c.3793A>C (p.Lys1265Gln) c.3112A>C (p.Lys1038Gln) c.4042A>C (p.Lys1348Gln) c.4021A>C (p.Lys1341Gln) c.3937A>C (p.Lys1313Gln) c.3913A>C (p.Lys1305Gln) c.3901A>C (p.Lys1301Gln) c.3880A>C (p.Lys1294Gln) n.4280A>C | ClinVar dbSNP gnomAD v4 |
7 | g.87402185T= | CA1723587091 | ABCB4 | c.3751A= (p.Lys1251=) c.3772A= (p.Lys1258=) c.3610A= (p.Lys1204=) c.185A= n.363A= c.3667A= (p.Lys1223=) c.3643A= (p.Lys1215=) c.3631A= (p.Lys1211=) c.3793A= (p.Lys1265=) c.3112A= (p.Lys1038=) c.4042A= (p.Lys1348=) c.4021A= (p.Lys1341=) c.3937A= (p.Lys1313=) c.3913A= (p.Lys1305=) c.3901A= (p.Lys1301=) c.3880A= (p.Lys1294=) n.4280A= | |
7 | g.87402186G>A | CA456356126 | ABCB4 | c.3750C>T (p.Val1250=) c.3771C>T (p.Val1257=) c.3609C>T (p.Val1203=) c.184C>T n.362C>T c.3666C>T (p.Val1222=) c.3642C>T (p.Val1214=) c.3630C>T (p.Val1210=) c.3792C>T (p.Val1264=) c.3111C>T (p.Val1037=) c.4041C>T (p.Val1347=) c.4020C>T (p.Val1340=) c.3936C>T (p.Val1312=) c.3912C>T (p.Val1304=) c.3900C>T (p.Val1300=) c.3879C>T (p.Val1293=) n.4279C>T | |
7 | g.87402186G>C | CA456356127 | ABCB4 | c.3750C>G (p.Val1250=) c.3771C>G (p.Val1257=) c.3609C>G (p.Val1203=) c.184C>G n.362C>G c.3666C>G (p.Val1222=) c.3642C>G (p.Val1214=) c.3630C>G (p.Val1210=) c.3792C>G (p.Val1264=) c.3111C>G (p.Val1037=) c.4041C>G (p.Val1347=) c.4020C>G (p.Val1340=) c.3936C>G (p.Val1312=) c.3912C>G (p.Val1304=) c.3900C>G (p.Val1300=) c.3879C>G (p.Val1293=) n.4279C>G | |
7 | g.87402186G>T | CA456356128 | ABCB4 | c.3750C>A (p.Val1250=) c.3771C>A (p.Val1257=) c.3609C>A (p.Val1203=) c.184C>A n.362C>A c.3666C>A (p.Val1222=) c.3642C>A (p.Val1214=) c.3630C>A (p.Val1210=) c.3792C>A (p.Val1264=) c.3111C>A (p.Val1037=) c.4041C>A (p.Val1347=) c.4020C>A (p.Val1340=) c.3936C>A (p.Val1312=) c.3912C>A (p.Val1304=) c.3900C>A (p.Val1300=) c.3879C>A (p.Val1293=) n.4279C>A | |
7 | g.87402187A>C | CA368056742 | ABCB4 | c.3749T>G (p.Val1250Gly) c.3770T>G (p.Val1257Gly) c.3608T>G (p.Val1203Gly) c.183T>G n.361T>G c.3665T>G (p.Val1222Gly) c.3641T>G (p.Val1214Gly) c.3629T>G (p.Val1210Gly) c.3791T>G (p.Val1264Gly) c.3110T>G (p.Val1037Gly) c.4040T>G (p.Val1347Gly) c.4019T>G (p.Val1340Gly) c.3935T>G (p.Val1312Gly) c.3911T>G (p.Val1304Gly) c.3899T>G (p.Val1300Gly) c.3878T>G (p.Val1293Gly) n.4278T>G | gnomAD v4 |
7 | g.87402187A>G | CA368056743 | ABCB4 | c.3749T>C (p.Val1250Ala) c.3770T>C (p.Val1257Ala) c.3608T>C (p.Val1203Ala) c.183T>C n.361T>C c.3665T>C (p.Val1222Ala) c.3641T>C (p.Val1214Ala) c.3629T>C (p.Val1210Ala) c.3791T>C (p.Val1264Ala) c.3110T>C (p.Val1037Ala) c.4040T>C (p.Val1347Ala) c.4019T>C (p.Val1340Ala) c.3935T>C (p.Val1312Ala) c.3911T>C (p.Val1304Ala) c.3899T>C (p.Val1300Ala) c.3878T>C (p.Val1293Ala) n.4278T>C | |
7 | g.87402187A>T | CA368056744 | ABCB4 | c.3749T>A (p.Val1250Asp) c.3770T>A (p.Val1257Asp) c.3608T>A (p.Val1203Asp) c.183T>A n.361T>A c.3665T>A (p.Val1222Asp) c.3641T>A (p.Val1214Asp) c.3629T>A (p.Val1210Asp) c.3791T>A (p.Val1264Asp) c.3110T>A (p.Val1037Asp) c.4040T>A (p.Val1347Asp) c.4019T>A (p.Val1340Asp) c.3935T>A (p.Val1312Asp) c.3911T>A (p.Val1304Asp) c.3899T>A (p.Val1300Asp) c.3878T>A (p.Val1293Asp) n.4278T>A | |
7 | g.87402188C>A | CA368056745 | ABCB4 | c.3748G>T (p.Val1250Phe) c.3769G>T (p.Val1257Phe) c.3607G>T (p.Val1203Phe) c.182G>T n.360G>T c.3664G>T (p.Val1222Phe) c.3640G>T (p.Val1214Phe) c.3628G>T (p.Val1210Phe) c.3790G>T (p.Val1264Phe) c.3109G>T (p.Val1037Phe) c.4039G>T (p.Val1347Phe) c.4018G>T (p.Val1340Phe) c.3934G>T (p.Val1312Phe) c.3910G>T (p.Val1304Phe) c.3898G>T (p.Val1300Phe) c.3877G>T (p.Val1293Phe) n.4277G>T | |
7 | g.87402188C>G | CA368056746 | ABCB4 | c.3748G>C (p.Val1250Leu) c.3769G>C (p.Val1257Leu) c.3607G>C (p.Val1203Leu) c.182G>C n.360G>C c.3664G>C (p.Val1222Leu) c.3640G>C (p.Val1214Leu) c.3628G>C (p.Val1210Leu) c.3790G>C (p.Val1264Leu) c.3109G>C (p.Val1037Leu) c.4039G>C (p.Val1347Leu) c.4018G>C (p.Val1340Leu) c.3934G>C (p.Val1312Leu) c.3910G>C (p.Val1304Leu) c.3898G>C (p.Val1300Leu) c.3877G>C (p.Val1293Leu) n.4277G>C | gnomAD v4 |
7 | g.87402188C>T | CA368056747 | ABCB4 | c.3748G>A (p.Val1250Ile) c.3769G>A (p.Val1257Ile) c.3607G>A (p.Val1203Ile) c.182G>A n.360G>A c.3664G>A (p.Val1222Ile) c.3640G>A (p.Val1214Ile) c.3628G>A (p.Val1210Ile) c.3790G>A (p.Val1264Ile) c.3109G>A (p.Val1037Ile) c.4039G>A (p.Val1347Ile) c.4018G>A (p.Val1340Ile) c.3934G>A (p.Val1312Ile) c.3910G>A (p.Val1304Ile) c.3898G>A (p.Val1300Ile) c.3877G>A (p.Val1293Ile) n.4277G>A | |
7 | g.87402191_87402192del | CA2683598158 | ABCB4 | c.3747_3748del (p.Arg1249SerfsTer?) c.3768_3769del (p.Arg1256SerfsTer?) c.3606_3607del (p.Arg1202SerfsTer?) c.181_182del n.359_360del c.3663_3664del (p.Arg1221SerfsTer?) c.3639_3640del (p.Arg1213SerfsTer?) c.3627_3628del (p.Arg1209SerfsTer?) c.3789_3790del (p.Arg1263SerfsTer?) c.3108_3109del (p.Arg1036SerfsTer?) c.4038_4039del (p.Arg1346SerfsTer?) c.4017_4018del (p.Arg1339SerfsTer?) c.3933_3934del (p.Arg1311SerfsTer?) c.3909_3910del (p.Arg1303SerfsTer?) c.3897_3898del (p.Arg1299SerfsTer?) c.3876_3877del (p.Arg1292SerfsTer?) n.4276_4277del | gnomAD v4 |
7 | g.87402189T>A | CA368056748 | ABCB4 | c.3747A>T (p.Arg1249Ser) c.3768A>T (p.Arg1256Ser) c.3606A>T (p.Arg1202Ser) c.181A>T n.359A>T c.3663A>T (p.Arg1221Ser) c.3639A>T (p.Arg1213Ser) c.3627A>T (p.Arg1209Ser) c.3789A>T (p.Arg1263Ser) c.3108A>T (p.Arg1036Ser) c.4038A>T (p.Arg1346Ser) c.4017A>T (p.Arg1339Ser) c.3933A>T (p.Arg1311Ser) c.3909A>T (p.Arg1303Ser) c.3897A>T (p.Arg1299Ser) c.3876A>T (p.Arg1292Ser) n.4276A>T | |
7 | g.87402189T>C | CA456356135 | ABCB4 | c.3747A>G (p.Arg1249=) c.3768A>G (p.Arg1256=) c.3606A>G (p.Arg1202=) c.181A>G n.359A>G c.3663A>G (p.Arg1221=) c.3639A>G (p.Arg1213=) c.3627A>G (p.Arg1209=) c.3789A>G (p.Arg1263=) c.3108A>G (p.Arg1036=) c.4038A>G (p.Arg1346=) c.4017A>G (p.Arg1339=) c.3933A>G (p.Arg1311=) c.3909A>G (p.Arg1303=) c.3897A>G (p.Arg1299=) c.3876A>G (p.Arg1292=) n.4276A>G | |
7 | g.87402189T>G | CA368056749 | ABCB4 | c.3747A>C (p.Arg1249Ser) c.3768A>C (p.Arg1256Ser) c.3606A>C (p.Arg1202Ser) c.181A>C n.359A>C c.3663A>C (p.Arg1221Ser) c.3639A>C (p.Arg1213Ser) c.3627A>C (p.Arg1209Ser) c.3789A>C (p.Arg1263Ser) c.3108A>C (p.Arg1036Ser) c.4038A>C (p.Arg1346Ser) c.4017A>C (p.Arg1339Ser) c.3933A>C (p.Arg1311Ser) c.3909A>C (p.Arg1303Ser) c.3897A>C (p.Arg1299Ser) c.3876A>C (p.Arg1292Ser) n.4276A>C | gnomAD v4 |
7 | g.87402190C>A | CA368056750 | ABCB4 | c.3746G>T (p.Arg1249Ile) c.3767G>T (p.Arg1256Ile) c.3605G>T (p.Arg1202Ile) c.180G>T n.358G>T c.3662G>T (p.Arg1221Ile) c.3638G>T (p.Arg1213Ile) c.3626G>T (p.Arg1209Ile) c.3788G>T (p.Arg1263Ile) c.3107G>T (p.Arg1036Ile) c.4037G>T (p.Arg1346Ile) c.4016G>T (p.Arg1339Ile) c.3932G>T (p.Arg1311Ile) c.3908G>T (p.Arg1303Ile) c.3896G>T (p.Arg1299Ile) c.3875G>T (p.Arg1292Ile) n.4275G>T | |
7 | g.87402190C>G | CA368056751 | ABCB4 | c.3746G>C (p.Arg1249Thr) c.3767G>C (p.Arg1256Thr) c.3605G>C (p.Arg1202Thr) c.180G>C n.358G>C c.3662G>C (p.Arg1221Thr) c.3638G>C (p.Arg1213Thr) c.3626G>C (p.Arg1209Thr) c.3788G>C (p.Arg1263Thr) c.3107G>C (p.Arg1036Thr) c.4037G>C (p.Arg1346Thr) c.4016G>C (p.Arg1339Thr) c.3932G>C (p.Arg1311Thr) c.3908G>C (p.Arg1303Thr) c.3896G>C (p.Arg1299Thr) c.3875G>C (p.Arg1292Thr) n.4275G>C | |
7 | g.87402190C>T | CA368056752 | ABCB4 | c.3746G>A (p.Arg1249Lys) c.3767G>A (p.Arg1256Lys) c.3605G>A (p.Arg1202Lys) c.180G>A n.358G>A c.3662G>A (p.Arg1221Lys) c.3638G>A (p.Arg1213Lys) c.3626G>A (p.Arg1209Lys) c.3788G>A (p.Arg1263Lys) c.3107G>A (p.Arg1036Lys) c.4037G>A (p.Arg1346Lys) c.4016G>A (p.Arg1339Lys) c.3932G>A (p.Arg1311Lys) c.3908G>A (p.Arg1303Lys) c.3896G>A (p.Arg1299Lys) c.3875G>A (p.Arg1292Lys) n.4275G>A | dbSNP gnomAD v4 |
7 | g.87402191T>A | CA368056754 | ABCB4 | c.3745A>T (p.Arg1249Ter) c.3766A>T (p.Arg1256Ter) c.3604A>T (p.Arg1202Ter) c.179A>T n.357A>T c.3661A>T (p.Arg1221Ter) c.3637A>T (p.Arg1213Ter) c.3625A>T (p.Arg1209Ter) c.3787A>T (p.Arg1263Ter) c.3106A>T (p.Arg1036Ter) c.4036A>T (p.Arg1346Ter) c.4015A>T (p.Arg1339Ter) c.3931A>T (p.Arg1311Ter) c.3907A>T (p.Arg1303Ter) c.3895A>T (p.Arg1299Ter) c.3874A>T (p.Arg1292Ter) n.4274A>T | |
7 | g.87402191T>C | CA368056753 | ABCB4 | c.3745A>G (p.Arg1249Gly) c.3766A>G (p.Arg1256Gly) c.3604A>G (p.Arg1202Gly) c.179A>G n.357A>G c.3661A>G (p.Arg1221Gly) c.3637A>G (p.Arg1213Gly) c.3625A>G (p.Arg1209Gly) c.3787A>G (p.Arg1263Gly) c.3106A>G (p.Arg1036Gly) c.4036A>G (p.Arg1346Gly) c.4015A>G (p.Arg1339Gly) c.3931A>G (p.Arg1311Gly) c.3907A>G (p.Arg1303Gly) c.3895A>G (p.Arg1299Gly) c.3874A>G (p.Arg1292Gly) n.4274A>G | |
7 | g.87402191T>G | CA456356137 | ABCB4 | c.3745A>C (p.Arg1249=) c.3766A>C (p.Arg1256=) c.3604A>C (p.Arg1202=) c.179A>C n.357A>C c.3661A>C (p.Arg1221=) c.3637A>C (p.Arg1213=) c.3625A>C (p.Arg1209=) c.3787A>C (p.Arg1263=) c.3106A>C (p.Arg1036=) c.4036A>C (p.Arg1346=) c.4015A>C (p.Arg1339=) c.3931A>C (p.Arg1311=) c.3907A>C (p.Arg1303=) c.3895A>C (p.Arg1299=) c.3874A>C (p.Arg1292=) n.4274A>C | |
7 | g.87402192C>A | CA456356141 | ABCB4 | c.3744G>T (p.Gly1248=) c.3765G>T (p.Gly1255=) c.3603G>T (p.Gly1201=) c.178G>T n.356G>T c.3660G>T (p.Gly1220=) c.3636G>T (p.Gly1212=) c.3624G>T (p.Gly1208=) c.3786G>T (p.Gly1262=) c.3105G>T (p.Gly1035=) c.4035G>T (p.Gly1345=) c.4014G>T (p.Gly1338=) c.3930G>T (p.Gly1310=) c.3906G>T (p.Gly1302=) c.3894G>T (p.Gly1298=) c.3873G>T (p.Gly1291=) n.4273G>T | gnomAD v4 |
7 | g.87402192C= | CA1723587095 | ABCB4 | c.3744G= (p.Gly1248=) c.3765G= (p.Gly1255=) c.3603G= (p.Gly1201=) c.178G= n.356G= c.3660G= (p.Gly1220=) c.3636G= (p.Gly1212=) c.3624G= (p.Gly1208=) c.3786G= (p.Gly1262=) c.3105G= (p.Gly1035=) c.4035G= (p.Gly1345=) c.4014G= (p.Gly1338=) c.3930G= (p.Gly1310=) c.3906G= (p.Gly1302=) c.3894G= (p.Gly1298=) c.3873G= (p.Gly1291=) n.4273G= | |
7 | g.87402192C>G | CA456356143 | ABCB4 | c.3744G>C (p.Gly1248=) c.3765G>C (p.Gly1255=) c.3603G>C (p.Gly1201=) c.178G>C n.356G>C c.3660G>C (p.Gly1220=) c.3636G>C (p.Gly1212=) c.3624G>C (p.Gly1208=) c.3786G>C (p.Gly1262=) c.3105G>C (p.Gly1035=) c.4035G>C (p.Gly1345=) c.4014G>C (p.Gly1338=) c.3930G>C (p.Gly1310=) c.3906G>C (p.Gly1302=) c.3894G>C (p.Gly1298=) c.3873G>C (p.Gly1291=) n.4273G>C | gnomAD v4 |
7 | g.87402192C>T | CA4326701 | ABCB4 | c.3744G>A (p.Gly1248=) c.3765G>A (p.Gly1255=) c.3603G>A (p.Gly1201=) c.178G>A n.356G>A c.3660G>A (p.Gly1220=) c.3636G>A (p.Gly1212=) c.3624G>A (p.Gly1208=) c.3786G>A (p.Gly1262=) c.3105G>A (p.Gly1035=) c.4035G>A (p.Gly1345=) c.4014G>A (p.Gly1338=) c.3930G>A (p.Gly1310=) c.3906G>A (p.Gly1302=) c.3894G>A (p.Gly1298=) c.3873G>A (p.Gly1291=) n.4273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402193C>A | CA368056755 | ABCB4 | c.3743G>T (p.Gly1248Val) c.3764G>T (p.Gly1255Val) c.3602G>T (p.Gly1201Val) c.177G>T n.355G>T c.3659G>T (p.Gly1220Val) c.3635G>T (p.Gly1212Val) c.3623G>T (p.Gly1208Val) c.3785G>T (p.Gly1262Val) c.3104G>T (p.Gly1035Val) c.4034G>T (p.Gly1345Val) c.4013G>T (p.Gly1338Val) c.3929G>T (p.Gly1310Val) c.3905G>T (p.Gly1302Val) c.3893G>T (p.Gly1298Val) c.3872G>T (p.Gly1291Val) n.4272G>T | |
7 | g.87402193C>G | CA368056756 | ABCB4 | c.3743G>C (p.Gly1248Ala) c.3764G>C (p.Gly1255Ala) c.3602G>C (p.Gly1201Ala) c.177G>C n.355G>C c.3659G>C (p.Gly1220Ala) c.3635G>C (p.Gly1212Ala) c.3623G>C (p.Gly1208Ala) c.3785G>C (p.Gly1262Ala) c.3104G>C (p.Gly1035Ala) c.4034G>C (p.Gly1345Ala) c.4013G>C (p.Gly1338Ala) c.3929G>C (p.Gly1310Ala) c.3905G>C (p.Gly1302Ala) c.3893G>C (p.Gly1298Ala) c.3872G>C (p.Gly1291Ala) n.4272G>C | |
7 | g.87402193C>T | CA368056757 | ABCB4 | c.3743G>A (p.Gly1248Glu) c.3764G>A (p.Gly1255Glu) c.3602G>A (p.Gly1201Glu) c.177G>A n.355G>A c.3659G>A (p.Gly1220Glu) c.3635G>A (p.Gly1212Glu) c.3623G>A (p.Gly1208Glu) c.3785G>A (p.Gly1262Glu) c.3104G>A (p.Gly1035Glu) c.4034G>A (p.Gly1345Glu) c.4013G>A (p.Gly1338Glu) c.3929G>A (p.Gly1310Glu) c.3905G>A (p.Gly1302Glu) c.3893G>A (p.Gly1298Glu) c.3872G>A (p.Gly1291Glu) n.4272G>A | gnomAD v4 |
7 | g.87402194C>A | CA368056758 | ABCB4 | c.3742G>T (p.Gly1248Trp) c.3763G>T (p.Gly1255Trp) c.3601G>T (p.Gly1201Trp) c.176G>T n.354G>T c.3658G>T (p.Gly1220Trp) c.3634G>T (p.Gly1212Trp) c.3622G>T (p.Gly1208Trp) c.3784G>T (p.Gly1262Trp) c.3103G>T (p.Gly1035Trp) c.4033G>T (p.Gly1345Trp) c.4012G>T (p.Gly1338Trp) c.3928G>T (p.Gly1310Trp) c.3904G>T (p.Gly1302Trp) c.3892G>T (p.Gly1298Trp) c.3871G>T (p.Gly1291Trp) n.4271G>T | |
7 | g.87402194C>G | CA368056759 | ABCB4 | c.3742G>C (p.Gly1248Arg) c.3763G>C (p.Gly1255Arg) c.3601G>C (p.Gly1201Arg) c.176G>C n.354G>C c.3658G>C (p.Gly1220Arg) c.3634G>C (p.Gly1212Arg) c.3622G>C (p.Gly1208Arg) c.3784G>C (p.Gly1262Arg) c.3103G>C (p.Gly1035Arg) c.4033G>C (p.Gly1345Arg) c.4012G>C (p.Gly1338Arg) c.3928G>C (p.Gly1310Arg) c.3904G>C (p.Gly1302Arg) c.3892G>C (p.Gly1298Arg) c.3871G>C (p.Gly1291Arg) n.4271G>C | |
7 | g.87402194C>T | CA368056760 | ABCB4 | c.3742G>A (p.Gly1248Arg) c.3763G>A (p.Gly1255Arg) c.3601G>A (p.Gly1201Arg) c.176G>A n.354G>A c.3658G>A (p.Gly1220Arg) c.3634G>A (p.Gly1212Arg) c.3622G>A (p.Gly1208Arg) c.3784G>A (p.Gly1262Arg) c.3103G>A (p.Gly1035Arg) c.4033G>A (p.Gly1345Arg) c.4012G>A (p.Gly1338Arg) c.3928G>A (p.Gly1310Arg) c.3904G>A (p.Gly1302Arg) c.3892G>A (p.Gly1298Arg) c.3871G>A (p.Gly1291Arg) n.4271G>A | gnomAD v4 |
7 | g.87402195A>C | CA368056761 | ABCB4 | c.3741T>G (p.Asn1247Lys) c.3762T>G (p.Asn1254Lys) c.3600T>G (p.Asn1200Lys) c.175T>G n.353T>G c.3657T>G (p.Asn1219Lys) c.3633T>G (p.Asn1211Lys) c.3621T>G (p.Asn1207Lys) c.3783T>G (p.Asn1261Lys) c.3102T>G (p.Asn1034Lys) c.4032T>G (p.Asn1344Lys) c.4011T>G (p.Asn1337Lys) c.3927T>G (p.Asn1309Lys) c.3903T>G (p.Asn1301Lys) c.3891T>G (p.Asn1297Lys) c.3870T>G (p.Asn1290Lys) n.4270T>G | |
7 | g.87402195A>G | CA456356144 | ABCB4 | c.3741T>C (p.Asn1247=) c.3762T>C (p.Asn1254=) c.3600T>C (p.Asn1200=) c.175T>C n.353T>C c.3657T>C (p.Asn1219=) c.3633T>C (p.Asn1211=) c.3621T>C (p.Asn1207=) c.3783T>C (p.Asn1261=) c.3102T>C (p.Asn1034=) c.4032T>C (p.Asn1344=) c.4011T>C (p.Asn1337=) c.3927T>C (p.Asn1309=) c.3903T>C (p.Asn1301=) c.3891T>C (p.Asn1297=) c.3870T>C (p.Asn1290=) n.4270T>C | |
7 | g.87402195A>T | CA368056762 | ABCB4 | c.3741T>A (p.Asn1247Lys) c.3762T>A (p.Asn1254Lys) c.3600T>A (p.Asn1200Lys) c.175T>A n.353T>A c.3657T>A (p.Asn1219Lys) c.3633T>A (p.Asn1211Lys) c.3621T>A (p.Asn1207Lys) c.3783T>A (p.Asn1261Lys) c.3102T>A (p.Asn1034Lys) c.4032T>A (p.Asn1344Lys) c.4011T>A (p.Asn1337Lys) c.3927T>A (p.Asn1309Lys) c.3903T>A (p.Asn1301Lys) c.3891T>A (p.Asn1297Lys) c.3870T>A (p.Asn1290Lys) n.4270T>A | |
7 | g.87402196T>A | CA368056763 | ABCB4 | c.3740A>T (p.Asn1247Ile) c.3761A>T (p.Asn1254Ile) c.3599A>T (p.Asn1200Ile) c.174A>T n.352A>T c.3656A>T (p.Asn1219Ile) c.3632A>T (p.Asn1211Ile) c.3620A>T (p.Asn1207Ile) c.3782A>T (p.Asn1261Ile) c.3101A>T (p.Asn1034Ile) c.4031A>T (p.Asn1344Ile) c.4010A>T (p.Asn1337Ile) c.3926A>T (p.Asn1309Ile) c.3902A>T (p.Asn1301Ile) c.3890A>T (p.Asn1297Ile) c.3869A>T (p.Asn1290Ile) n.4269A>T | |
7 | g.87402196T>C | CA368056764 | ABCB4 | c.3740A>G (p.Asn1247Ser) c.3761A>G (p.Asn1254Ser) c.3599A>G (p.Asn1200Ser) c.174A>G n.352A>G c.3656A>G (p.Asn1219Ser) c.3632A>G (p.Asn1211Ser) c.3620A>G (p.Asn1207Ser) c.3782A>G (p.Asn1261Ser) c.3101A>G (p.Asn1034Ser) c.4031A>G (p.Asn1344Ser) c.4010A>G (p.Asn1337Ser) c.3926A>G (p.Asn1309Ser) c.3902A>G (p.Asn1301Ser) c.3890A>G (p.Asn1297Ser) c.3869A>G (p.Asn1290Ser) n.4269A>G | |
7 | g.87402196T>G | CA368056765 | ABCB4 | c.3740A>C (p.Asn1247Thr) c.3761A>C (p.Asn1254Thr) c.3599A>C (p.Asn1200Thr) c.174A>C n.352A>C c.3656A>C (p.Asn1219Thr) c.3632A>C (p.Asn1211Thr) c.3620A>C (p.Asn1207Thr) c.3782A>C (p.Asn1261Thr) c.3101A>C (p.Asn1034Thr) c.4031A>C (p.Asn1344Thr) c.4010A>C (p.Asn1337Thr) c.3926A>C (p.Asn1309Thr) c.3902A>C (p.Asn1301Thr) c.3890A>C (p.Asn1297Thr) c.3869A>C (p.Asn1290Thr) n.4269A>C | |
7 | g.87402197T>A | CA368056766 | ABCB4 | c.3739A>T (p.Asn1247Tyr) c.3760A>T (p.Asn1254Tyr) c.3598A>T (p.Asn1200Tyr) c.173A>T n.351A>T c.3655A>T (p.Asn1219Tyr) c.3631A>T (p.Asn1211Tyr) c.3619A>T (p.Asn1207Tyr) c.3781A>T (p.Asn1261Tyr) c.3100A>T (p.Asn1034Tyr) c.4030A>T (p.Asn1344Tyr) c.4009A>T (p.Asn1337Tyr) c.3925A>T (p.Asn1309Tyr) c.3901A>T (p.Asn1301Tyr) c.3889A>T (p.Asn1297Tyr) c.3868A>T (p.Asn1290Tyr) n.4268A>T | |
7 | g.87402197T>C | CA368056767 | ABCB4 | c.3739A>G (p.Asn1247Asp) c.3760A>G (p.Asn1254Asp) c.3598A>G (p.Asn1200Asp) c.173A>G n.351A>G c.3655A>G (p.Asn1219Asp) c.3631A>G (p.Asn1211Asp) c.3619A>G (p.Asn1207Asp) c.3781A>G (p.Asn1261Asp) c.3100A>G (p.Asn1034Asp) c.4030A>G (p.Asn1344Asp) c.4009A>G (p.Asn1337Asp) c.3925A>G (p.Asn1309Asp) c.3901A>G (p.Asn1301Asp) c.3889A>G (p.Asn1297Asp) c.3868A>G (p.Asn1290Asp) n.4268A>G | |
7 | g.87402197T>G | CA368056768 | ABCB4 | c.3739A>C (p.Asn1247His) c.3760A>C (p.Asn1254His) c.3598A>C (p.Asn1200His) c.173A>C n.351A>C c.3655A>C (p.Asn1219His) c.3631A>C (p.Asn1211His) c.3619A>C (p.Asn1207His) c.3781A>C (p.Asn1261His) c.3100A>C (p.Asn1034His) c.4030A>C (p.Asn1344His) c.4009A>C (p.Asn1337His) c.3925A>C (p.Asn1309His) c.3901A>C (p.Asn1301His) c.3889A>C (p.Asn1297His) c.3868A>C (p.Asn1290His) n.4268A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402197T= | CA1723587098 | ABCB4 | c.3739A= (p.Asn1247=) c.3760A= (p.Asn1254=) c.3598A= (p.Asn1200=) c.173A= n.351A= c.3655A= (p.Asn1219=) c.3631A= (p.Asn1211=) c.3619A= (p.Asn1207=) c.3781A= (p.Asn1261=) c.3100A= (p.Asn1034=) c.4030A= (p.Asn1344=) c.4009A= (p.Asn1337=) c.3925A= (p.Asn1309=) c.3901A= (p.Asn1301=) c.3889A= (p.Asn1297=) c.3868A= (p.Asn1290=) n.4268A= | |
7 | g.87402198C>A | CA368056769 | ABCB4 | c.3738G>T (p.Gln1246His) c.3759G>T (p.Gln1253His) c.3597G>T (p.Gln1199His) c.172G>T n.350G>T c.3654G>T (p.Gln1218His) c.3630G>T (p.Gln1210His) c.3618G>T (p.Gln1206His) c.3780G>T (p.Gln1260His) c.3099G>T (p.Gln1033His) c.4029G>T (p.Gln1343His) c.4008G>T (p.Gln1336His) c.3924G>T (p.Gln1308His) c.3900G>T (p.Gln1300His) c.3888G>T (p.Gln1296His) c.3867G>T (p.Gln1289His) n.4267G>T | |
7 | g.87402198C>G | CA368056770 | ABCB4 | c.3738G>C (p.Gln1246His) c.3759G>C (p.Gln1253His) c.3597G>C (p.Gln1199His) c.172G>C n.350G>C c.3654G>C (p.Gln1218His) c.3630G>C (p.Gln1210His) c.3618G>C (p.Gln1206His) c.3780G>C (p.Gln1260His) c.3099G>C (p.Gln1033His) c.4029G>C (p.Gln1343His) c.4008G>C (p.Gln1336His) c.3924G>C (p.Gln1308His) c.3900G>C (p.Gln1300His) c.3888G>C (p.Gln1296His) c.3867G>C (p.Gln1289His) n.4267G>C | |
7 | g.87402198C>T | CA456356147 | ABCB4 | c.3738G>A (p.Gln1246=) c.3759G>A (p.Gln1253=) c.3597G>A (p.Gln1199=) c.172G>A n.350G>A c.3654G>A (p.Gln1218=) c.3630G>A (p.Gln1210=) c.3618G>A (p.Gln1206=) c.3780G>A (p.Gln1260=) c.3099G>A (p.Gln1033=) c.4029G>A (p.Gln1343=) c.4008G>A (p.Gln1336=) c.3924G>A (p.Gln1308=) c.3900G>A (p.Gln1300=) c.3888G>A (p.Gln1296=) c.3867G>A (p.Gln1289=) n.4267G>A | |
7 | g.87402199T>A | CA368056771 | ABCB4 | c.3737A>T (p.Gln1246Leu) c.3758A>T (p.Gln1253Leu) c.3596A>T (p.Gln1199Leu) c.171A>T n.349A>T c.3653A>T (p.Gln1218Leu) c.3629A>T (p.Gln1210Leu) c.3617A>T (p.Gln1206Leu) c.3779A>T (p.Gln1260Leu) c.3098A>T (p.Gln1033Leu) c.4028A>T (p.Gln1343Leu) c.4007A>T (p.Gln1336Leu) c.3923A>T (p.Gln1308Leu) c.3899A>T (p.Gln1300Leu) c.3887A>T (p.Gln1296Leu) c.3866A>T (p.Gln1289Leu) n.4266A>T | |
7 | g.87402199T>C | CA368056772 | ABCB4 | c.3737A>G (p.Gln1246Arg) c.3758A>G (p.Gln1253Arg) c.3596A>G (p.Gln1199Arg) c.171A>G n.349A>G c.3653A>G (p.Gln1218Arg) c.3629A>G (p.Gln1210Arg) c.3617A>G (p.Gln1206Arg) c.3779A>G (p.Gln1260Arg) c.3098A>G (p.Gln1033Arg) c.4028A>G (p.Gln1343Arg) c.4007A>G (p.Gln1336Arg) c.3923A>G (p.Gln1308Arg) c.3899A>G (p.Gln1300Arg) c.3887A>G (p.Gln1296Arg) c.3866A>G (p.Gln1289Arg) n.4266A>G | |
7 | g.87402199T>G | CA368056773 | ABCB4 | c.3737A>C (p.Gln1246Pro) c.3758A>C (p.Gln1253Pro) c.3596A>C (p.Gln1199Pro) c.171A>C n.349A>C c.3653A>C (p.Gln1218Pro) c.3629A>C (p.Gln1210Pro) c.3617A>C (p.Gln1206Pro) c.3779A>C (p.Gln1260Pro) c.3098A>C (p.Gln1033Pro) c.4028A>C (p.Gln1343Pro) c.4007A>C (p.Gln1336Pro) c.3923A>C (p.Gln1308Pro) c.3899A>C (p.Gln1300Pro) c.3887A>C (p.Gln1296Pro) c.3866A>C (p.Gln1289Pro) n.4266A>C | ClinVar gnomAD v4 |
7 | g.87402200G>A | CA368056774 | ABCB4 | c.3736C>T (p.Gln1246Ter) c.3757C>T (p.Gln1253Ter) c.3595C>T (p.Gln1199Ter) c.170C>T n.348C>T c.3652C>T (p.Gln1218Ter) c.3628C>T (p.Gln1210Ter) c.3616C>T (p.Gln1206Ter) c.3778C>T (p.Gln1260Ter) c.3097C>T (p.Gln1033Ter) c.4027C>T (p.Gln1343Ter) c.4006C>T (p.Gln1336Ter) c.3922C>T (p.Gln1308Ter) c.3898C>T (p.Gln1300Ter) c.3886C>T (p.Gln1296Ter) c.3865C>T (p.Gln1289Ter) n.4265C>T | COSMIC COSMIC |
7 | g.87402200G>C | CA368056775 | ABCB4 | c.3736C>G (p.Gln1246Glu) c.3757C>G (p.Gln1253Glu) c.3595C>G (p.Gln1199Glu) c.170C>G n.348C>G c.3652C>G (p.Gln1218Glu) c.3628C>G (p.Gln1210Glu) c.3616C>G (p.Gln1206Glu) c.3778C>G (p.Gln1260Glu) c.3097C>G (p.Gln1033Glu) c.4027C>G (p.Gln1343Glu) c.4006C>G (p.Gln1336Glu) c.3922C>G (p.Gln1308Glu) c.3898C>G (p.Gln1300Glu) c.3886C>G (p.Gln1296Glu) c.3865C>G (p.Gln1289Glu) n.4265C>G | gnomAD v4 |
7 | g.87402200G>T | CA368056776 | ABCB4 | c.3736C>A (p.Gln1246Lys) c.3757C>A (p.Gln1253Lys) c.3595C>A (p.Gln1199Lys) c.170C>A n.348C>A c.3652C>A (p.Gln1218Lys) c.3628C>A (p.Gln1210Lys) c.3616C>A (p.Gln1206Lys) c.3778C>A (p.Gln1260Lys) c.3097C>A (p.Gln1033Lys) c.4027C>A (p.Gln1343Lys) c.4006C>A (p.Gln1336Lys) c.3922C>A (p.Gln1308Lys) c.3898C>A (p.Gln1300Lys) c.3886C>A (p.Gln1296Lys) c.3865C>A (p.Gln1289Lys) n.4265C>A | |
7 | g.87402201A= | CA1723587101 | ABCB4 | c.3735T= (p.Phe1245=) c.3756T= (p.Phe1252=) c.3594T= (p.Phe1198=) c.169T= n.347T= c.3651T= (p.Phe1217=) c.3627T= (p.Phe1209=) c.3615T= (p.Phe1205=) c.3777T= (p.Phe1259=) c.3096T= (p.Phe1032=) c.4026T= (p.Phe1342=) c.4005T= (p.Phe1335=) c.3921T= (p.Phe1307=) c.3897T= (p.Phe1299=) c.3885T= (p.Phe1295=) c.3864T= (p.Phe1288=) n.4264T= | |
7 | g.87402201A>C | CA368056777 | ABCB4 | c.3735T>G (p.Phe1245Leu) c.3756T>G (p.Phe1252Leu) c.3594T>G (p.Phe1198Leu) c.169T>G n.347T>G c.3651T>G (p.Phe1217Leu) c.3627T>G (p.Phe1209Leu) c.3615T>G (p.Phe1205Leu) c.3777T>G (p.Phe1259Leu) c.3096T>G (p.Phe1032Leu) c.4026T>G (p.Phe1342Leu) c.4005T>G (p.Phe1335Leu) c.3921T>G (p.Phe1307Leu) c.3897T>G (p.Phe1299Leu) c.3885T>G (p.Phe1295Leu) c.3864T>G (p.Phe1288Leu) n.4264T>G | |
7 | g.87402201A>G | CA4326702 | ABCB4 | c.3735T>C (p.Phe1245=) c.3756T>C (p.Phe1252=) c.3594T>C (p.Phe1198=) c.169T>C n.347T>C c.3651T>C (p.Phe1217=) c.3627T>C (p.Phe1209=) c.3615T>C (p.Phe1205=) c.3777T>C (p.Phe1259=) c.3096T>C (p.Phe1032=) c.4026T>C (p.Phe1342=) c.4005T>C (p.Phe1335=) c.3921T>C (p.Phe1307=) c.3897T>C (p.Phe1299=) c.3885T>C (p.Phe1295=) c.3864T>C (p.Phe1288=) n.4264T>C | dbSNP ExAC gnomAD v2 |
7 | g.87402201A>T | CA368056778 | ABCB4 | c.3735T>A (p.Phe1245Leu) c.3756T>A (p.Phe1252Leu) c.3594T>A (p.Phe1198Leu) c.169T>A n.347T>A c.3651T>A (p.Phe1217Leu) c.3627T>A (p.Phe1209Leu) c.3615T>A (p.Phe1205Leu) c.3777T>A (p.Phe1259Leu) c.3096T>A (p.Phe1032Leu) c.4026T>A (p.Phe1342Leu) c.4005T>A (p.Phe1335Leu) c.3921T>A (p.Phe1307Leu) c.3897T>A (p.Phe1299Leu) c.3885T>A (p.Phe1295Leu) c.3864T>A (p.Phe1288Leu) n.4264T>A | |
7 | g.87402202A>C | CA368056779 | ABCB4 | c.3734T>G (p.Phe1245Cys) c.3755T>G (p.Phe1252Cys) c.3593T>G (p.Phe1198Cys) c.168T>G n.346T>G c.3650T>G (p.Phe1217Cys) c.3626T>G (p.Phe1209Cys) c.3614T>G (p.Phe1205Cys) c.3776T>G (p.Phe1259Cys) c.3095T>G (p.Phe1032Cys) c.4025T>G (p.Phe1342Cys) c.4004T>G (p.Phe1335Cys) c.3920T>G (p.Phe1307Cys) c.3896T>G (p.Phe1299Cys) c.3884T>G (p.Phe1295Cys) c.3863T>G (p.Phe1288Cys) n.4263T>G | |
7 | g.87402202A>G | CA368056780 | ABCB4 | c.3734T>C (p.Phe1245Ser) c.3755T>C (p.Phe1252Ser) c.3593T>C (p.Phe1198Ser) c.168T>C n.346T>C c.3650T>C (p.Phe1217Ser) c.3626T>C (p.Phe1209Ser) c.3614T>C (p.Phe1205Ser) c.3776T>C (p.Phe1259Ser) c.3095T>C (p.Phe1032Ser) c.4025T>C (p.Phe1342Ser) c.4004T>C (p.Phe1335Ser) c.3920T>C (p.Phe1307Ser) c.3896T>C (p.Phe1299Ser) c.3884T>C (p.Phe1295Ser) c.3863T>C (p.Phe1288Ser) n.4263T>C | |
7 | g.87402202A>T | CA368056781 | ABCB4 | c.3734T>A (p.Phe1245Tyr) c.3755T>A (p.Phe1252Tyr) c.3593T>A (p.Phe1198Tyr) c.168T>A n.346T>A c.3650T>A (p.Phe1217Tyr) c.3626T>A (p.Phe1209Tyr) c.3614T>A (p.Phe1205Tyr) c.3776T>A (p.Phe1259Tyr) c.3095T>A (p.Phe1032Tyr) c.4025T>A (p.Phe1342Tyr) c.4004T>A (p.Phe1335Tyr) c.3920T>A (p.Phe1307Tyr) c.3896T>A (p.Phe1299Tyr) c.3884T>A (p.Phe1295Tyr) c.3863T>A (p.Phe1288Tyr) n.4263T>A | |
7 | g.87402203A>C | CA368056782 | ABCB4 | c.3733T>G (p.Phe1245Val) c.3754T>G (p.Phe1252Val) c.3592T>G (p.Phe1198Val) c.167T>G n.345T>G c.3649T>G (p.Phe1217Val) c.3625T>G (p.Phe1209Val) c.3613T>G (p.Phe1205Val) c.3775T>G (p.Phe1259Val) c.3094T>G (p.Phe1032Val) c.4024T>G (p.Phe1342Val) c.4003T>G (p.Phe1335Val) c.3919T>G (p.Phe1307Val) c.3895T>G (p.Phe1299Val) c.3883T>G (p.Phe1295Val) c.3862T>G (p.Phe1288Val) n.4262T>G | |
7 | g.87402203A>G | CA368056784 | ABCB4 | c.3733T>C (p.Phe1245Leu) c.3754T>C (p.Phe1252Leu) c.3592T>C (p.Phe1198Leu) c.167T>C n.345T>C c.3649T>C (p.Phe1217Leu) c.3625T>C (p.Phe1209Leu) c.3613T>C (p.Phe1205Leu) c.3775T>C (p.Phe1259Leu) c.3094T>C (p.Phe1032Leu) c.4024T>C (p.Phe1342Leu) c.4003T>C (p.Phe1335Leu) c.3919T>C (p.Phe1307Leu) c.3895T>C (p.Phe1299Leu) c.3883T>C (p.Phe1295Leu) c.3862T>C (p.Phe1288Leu) n.4262T>C | |
7 | g.87402203A>T | CA368056783 | ABCB4 | c.3733T>A (p.Phe1245Ile) c.3754T>A (p.Phe1252Ile) c.3592T>A (p.Phe1198Ile) c.167T>A n.345T>A c.3649T>A (p.Phe1217Ile) c.3625T>A (p.Phe1209Ile) c.3613T>A (p.Phe1205Ile) c.3775T>A (p.Phe1259Ile) c.3094T>A (p.Phe1032Ile) c.4024T>A (p.Phe1342Ile) c.4003T>A (p.Phe1335Ile) c.3919T>A (p.Phe1307Ile) c.3895T>A (p.Phe1299Ile) c.3883T>A (p.Phe1295Ile) c.3862T>A (p.Phe1288Ile) n.4262T>A | |
7 | g.87402204C>A | CA456356152 | ABCB4 | c.3732G>T (p.Val1244=) c.3753G>T (p.Val1251=) c.3591G>T (p.Val1197=) c.166G>T n.344G>T c.3648G>T (p.Val1216=) c.3624G>T (p.Val1208=) c.3612G>T (p.Val1204=) c.3774G>T (p.Val1258=) c.3093G>T (p.Val1031=) c.4023G>T (p.Val1341=) c.4002G>T (p.Val1334=) c.3918G>T (p.Val1306=) c.3894G>T (p.Val1298=) c.3882G>T (p.Val1294=) c.3861G>T (p.Val1287=) n.4261G>T | ClinVar |
7 | g.87402204C>G | CA456356151 | ABCB4 | c.3732G>C (p.Val1244=) c.3753G>C (p.Val1251=) c.3591G>C (p.Val1197=) c.166G>C n.344G>C c.3648G>C (p.Val1216=) c.3624G>C (p.Val1208=) c.3612G>C (p.Val1204=) c.3774G>C (p.Val1258=) c.3093G>C (p.Val1031=) c.4023G>C (p.Val1341=) c.4002G>C (p.Val1334=) c.3918G>C (p.Val1306=) c.3894G>C (p.Val1298=) c.3882G>C (p.Val1294=) c.3861G>C (p.Val1287=) n.4261G>C | |
7 | g.87402204C>T | CA456356150 | ABCB4 | c.3732G>A (p.Val1244=) c.3753G>A (p.Val1251=) c.3591G>A (p.Val1197=) c.166G>A n.344G>A c.3648G>A (p.Val1216=) c.3624G>A (p.Val1208=) c.3612G>A (p.Val1204=) c.3774G>A (p.Val1258=) c.3093G>A (p.Val1031=) c.4023G>A (p.Val1341=) c.4002G>A (p.Val1334=) c.3918G>A (p.Val1306=) c.3894G>A (p.Val1298=) c.3882G>A (p.Val1294=) c.3861G>A (p.Val1287=) n.4261G>A | |
7 | g.87402205A= | CA1723587104 | ABCB4 | c.3731T= (p.Val1244=) c.3752T= (p.Val1251=) c.3590T= (p.Val1197=) c.165T= n.343T= c.3647T= (p.Val1216=) c.3623T= (p.Val1208=) c.3611T= (p.Val1204=) c.3773T= (p.Val1258=) c.3092T= (p.Val1031=) c.4022T= (p.Val1341=) c.4001T= (p.Val1334=) c.3917T= (p.Val1306=) c.3893T= (p.Val1298=) c.3881T= (p.Val1294=) c.3860T= (p.Val1287=) n.4260T= | |
7 | g.87402205A>C | CA368056785 | ABCB4 | c.3731T>G (p.Val1244Gly) c.3752T>G (p.Val1251Gly) c.3590T>G (p.Val1197Gly) c.165T>G n.343T>G c.3647T>G (p.Val1216Gly) c.3623T>G (p.Val1208Gly) c.3611T>G (p.Val1204Gly) c.3773T>G (p.Val1258Gly) c.3092T>G (p.Val1031Gly) c.4022T>G (p.Val1341Gly) c.4001T>G (p.Val1334Gly) c.3917T>G (p.Val1306Gly) c.3893T>G (p.Val1298Gly) c.3881T>G (p.Val1294Gly) c.3860T>G (p.Val1287Gly) n.4260T>G | |
7 | g.87402205A>G | CA368056787 | ABCB4 | c.3731T>C (p.Val1244Ala) c.3752T>C (p.Val1251Ala) c.3590T>C (p.Val1197Ala) c.165T>C n.343T>C c.3647T>C (p.Val1216Ala) c.3623T>C (p.Val1208Ala) c.3611T>C (p.Val1204Ala) c.3773T>C (p.Val1258Ala) c.3092T>C (p.Val1031Ala) c.4022T>C (p.Val1341Ala) c.4001T>C (p.Val1334Ala) c.3917T>C (p.Val1306Ala) c.3893T>C (p.Val1298Ala) c.3881T>C (p.Val1294Ala) c.3860T>C (p.Val1287Ala) n.4260T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87402205A>T | CA368056786 | ABCB4 | c.3731T>A (p.Val1244Glu) c.3752T>A (p.Val1251Glu) c.3590T>A (p.Val1197Glu) c.165T>A n.343T>A c.3647T>A (p.Val1216Glu) c.3623T>A (p.Val1208Glu) c.3611T>A (p.Val1204Glu) c.3773T>A (p.Val1258Glu) c.3092T>A (p.Val1031Glu) c.4022T>A (p.Val1341Glu) c.4001T>A (p.Val1334Glu) c.3917T>A (p.Val1306Glu) c.3893T>A (p.Val1298Glu) c.3881T>A (p.Val1294Glu) c.3860T>A (p.Val1287Glu) n.4260T>A | |
7 | g.87402206C>A | CA368056788 | ABCB4 | c.3730G>T (p.Val1244Leu) c.3751G>T (p.Val1251Leu) c.3589G>T (p.Val1197Leu) c.164G>T n.342G>T c.3646G>T (p.Val1216Leu) c.3622G>T (p.Val1208Leu) c.3610G>T (p.Val1204Leu) c.3772G>T (p.Val1258Leu) c.3091G>T (p.Val1031Leu) c.4021G>T (p.Val1341Leu) c.4000G>T (p.Val1334Leu) c.3916G>T (p.Val1306Leu) c.3892G>T (p.Val1298Leu) c.3880G>T (p.Val1294Leu) c.3859G>T (p.Val1287Leu) n.4259G>T | |
7 | g.87402206C>G | CA368056789 | ABCB4 | c.3730G>C (p.Val1244Leu) c.3751G>C (p.Val1251Leu) c.3589G>C (p.Val1197Leu) c.164G>C n.342G>C c.3646G>C (p.Val1216Leu) c.3622G>C (p.Val1208Leu) c.3610G>C (p.Val1204Leu) c.3772G>C (p.Val1258Leu) c.3091G>C (p.Val1031Leu) c.4021G>C (p.Val1341Leu) c.4000G>C (p.Val1334Leu) c.3916G>C (p.Val1306Leu) c.3892G>C (p.Val1298Leu) c.3880G>C (p.Val1294Leu) c.3859G>C (p.Val1287Leu) n.4259G>C | |
7 | g.87402206C>T | CA368056790 | ABCB4 | c.3730G>A (p.Val1244Met) c.3751G>A (p.Val1251Met) c.3589G>A (p.Val1197Met) c.164G>A n.342G>A c.3646G>A (p.Val1216Met) c.3622G>A (p.Val1208Met) c.3610G>A (p.Val1204Met) c.3772G>A (p.Val1258Met) c.3091G>A (p.Val1031Met) c.4021G>A (p.Val1341Met) c.4000G>A (p.Val1334Met) c.3916G>A (p.Val1306Met) c.3892G>A (p.Val1298Met) c.3880G>A (p.Val1294Met) c.3859G>A (p.Val1287Met) n.4259G>A | gnomAD v4 |
7 | g.87402207C>A | CA456356153 | ABCB4 | c.3729G>T (p.Val1243=) c.3750G>T (p.Val1250=) c.3588G>T (p.Val1196=) c.163G>T n.341G>T c.3645G>T (p.Val1215=) c.3621G>T (p.Val1207=) c.3609G>T (p.Val1203=) c.3771G>T (p.Val1257=) c.3090G>T (p.Val1030=) c.4020G>T (p.Val1340=) c.3999G>T (p.Val1333=) c.3915G>T (p.Val1305=) c.3891G>T (p.Val1297=) c.3879G>T (p.Val1293=) c.3858G>T (p.Val1286=) n.4258G>T | |
7 | g.87402207C= | CA1723587109 | ABCB4 | c.3729G= (p.Val1243=) c.3750G= (p.Val1250=) c.3588G= (p.Val1196=) c.163G= n.341G= c.3645G= (p.Val1215=) c.3621G= (p.Val1207=) c.3609G= (p.Val1203=) c.3771G= (p.Val1257=) c.3090G= (p.Val1030=) c.4020G= (p.Val1340=) c.3999G= (p.Val1333=) c.3915G= (p.Val1305=) c.3891G= (p.Val1297=) c.3879G= (p.Val1293=) c.3858G= (p.Val1286=) n.4258G= | |
7 | g.87402207C>G | CA456356155 | ABCB4 | c.3729G>C (p.Val1243=) c.3750G>C (p.Val1250=) c.3588G>C (p.Val1196=) c.163G>C n.341G>C c.3645G>C (p.Val1215=) c.3621G>C (p.Val1207=) c.3609G>C (p.Val1203=) c.3771G>C (p.Val1257=) c.3090G>C (p.Val1030=) c.4020G>C (p.Val1340=) c.3999G>C (p.Val1333=) c.3915G>C (p.Val1305=) c.3891G>C (p.Val1297=) c.3879G>C (p.Val1293=) c.3858G>C (p.Val1286=) n.4258G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402207C>T | CA456356157 | ABCB4 | c.3729G>A (p.Val1243=) c.3750G>A (p.Val1250=) c.3588G>A (p.Val1196=) c.163G>A n.341G>A c.3645G>A (p.Val1215=) c.3621G>A (p.Val1207=) c.3609G>A (p.Val1203=) c.3771G>A (p.Val1257=) c.3090G>A (p.Val1030=) c.4020G>A (p.Val1340=) c.3999G>A (p.Val1333=) c.3915G>A (p.Val1305=) c.3891G>A (p.Val1297=) c.3879G>A (p.Val1293=) c.3858G>A (p.Val1286=) n.4258G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87402208A>C | CA368056791 | ABCB4 | c.3728T>G (p.Val1243Gly) c.3749T>G (p.Val1250Gly) c.3587T>G (p.Val1196Gly) c.162T>G n.340T>G c.3644T>G (p.Val1215Gly) c.3620T>G (p.Val1207Gly) c.3608T>G (p.Val1203Gly) c.3770T>G (p.Val1257Gly) c.3089T>G (p.Val1030Gly) c.4019T>G (p.Val1340Gly) c.3998T>G (p.Val1333Gly) c.3914T>G (p.Val1305Gly) c.3890T>G (p.Val1297Gly) c.3878T>G (p.Val1293Gly) c.3857T>G (p.Val1286Gly) n.4257T>G | |
7 | g.87402208A>G | CA368056792 | ABCB4 | c.3728T>C (p.Val1243Ala) c.3749T>C (p.Val1250Ala) c.3587T>C (p.Val1196Ala) c.162T>C n.340T>C c.3644T>C (p.Val1215Ala) c.3620T>C (p.Val1207Ala) c.3608T>C (p.Val1203Ala) c.3770T>C (p.Val1257Ala) c.3089T>C (p.Val1030Ala) c.4019T>C (p.Val1340Ala) c.3998T>C (p.Val1333Ala) c.3914T>C (p.Val1305Ala) c.3890T>C (p.Val1297Ala) c.3878T>C (p.Val1293Ala) c.3857T>C (p.Val1286Ala) n.4257T>C | COSMIC |
7 | g.87402208A>T | CA368056793 | ABCB4 | c.3728T>A (p.Val1243Glu) c.3749T>A (p.Val1250Glu) c.3587T>A (p.Val1196Glu) c.162T>A n.340T>A c.3644T>A (p.Val1215Glu) c.3620T>A (p.Val1207Glu) c.3608T>A (p.Val1203Glu) c.3770T>A (p.Val1257Glu) c.3089T>A (p.Val1030Glu) c.4019T>A (p.Val1340Glu) c.3998T>A (p.Val1333Glu) c.3914T>A (p.Val1305Glu) c.3890T>A (p.Val1297Glu) c.3878T>A (p.Val1293Glu) c.3857T>A (p.Val1286Glu) n.4257T>A | |
7 | g.87402209C>A | CA368056794 | ABCB4 | c.3727G>T (p.Val1243Leu) c.3748G>T (p.Val1250Leu) c.3586G>T (p.Val1196Leu) c.161G>T n.339G>T c.3643G>T (p.Val1215Leu) c.3619G>T (p.Val1207Leu) c.3607G>T (p.Val1203Leu) c.3769G>T (p.Val1257Leu) c.3088G>T (p.Val1030Leu) c.4018G>T (p.Val1340Leu) c.3997G>T (p.Val1333Leu) c.3913G>T (p.Val1305Leu) c.3889G>T (p.Val1297Leu) c.3877G>T (p.Val1293Leu) c.3856G>T (p.Val1286Leu) n.4256G>T | |
7 | g.87402209C= | CA1723587112 | ABCB4 | c.3727G= (p.Val1243=) c.3748G= (p.Val1250=) c.3586G= (p.Val1196=) c.161G= n.339G= c.3643G= (p.Val1215=) c.3619G= (p.Val1207=) c.3607G= (p.Val1203=) c.3769G= (p.Val1257=) c.3088G= (p.Val1030=) c.4018G= (p.Val1340=) c.3997G= (p.Val1333=) c.3913G= (p.Val1305=) c.3889G= (p.Val1297=) c.3877G= (p.Val1293=) c.3856G= (p.Val1286=) n.4256G= | |
7 | g.87402209C>G | CA368056795 | ABCB4 | c.3727G>C (p.Val1243Leu) c.3748G>C (p.Val1250Leu) c.3586G>C (p.Val1196Leu) c.161G>C n.339G>C c.3643G>C (p.Val1215Leu) c.3619G>C (p.Val1207Leu) c.3607G>C (p.Val1203Leu) c.3769G>C (p.Val1257Leu) c.3088G>C (p.Val1030Leu) c.4018G>C (p.Val1340Leu) c.3997G>C (p.Val1333Leu) c.3913G>C (p.Val1305Leu) c.3889G>C (p.Val1297Leu) c.3877G>C (p.Val1293Leu) c.3856G>C (p.Val1286Leu) n.4256G>C | |
7 | g.87402209C>T | CA368056796 | ABCB4 | c.3727G>A (p.Val1243Met) c.3748G>A (p.Val1250Met) c.3586G>A (p.Val1196Met) c.161G>A n.339G>A c.3643G>A (p.Val1215Met) c.3619G>A (p.Val1207Met) c.3607G>A (p.Val1203Met) c.3769G>A (p.Val1257Met) c.3088G>A (p.Val1030Met) c.4018G>A (p.Val1340Met) c.3997G>A (p.Val1333Met) c.3913G>A (p.Val1305Met) c.3889G>A (p.Val1297Met) c.3877G>A (p.Val1293Met) c.3856G>A (p.Val1286Met) n.4256G>A | dbSNP |
7 | g.87402210T>A | CA456356159 | ABCB4 | c.3726A>T (p.Ile1242=) c.3747A>T (p.Ile1249=) c.3585A>T (p.Ile1195=) c.160A>T n.338A>T c.3642A>T (p.Ile1214=) c.3618A>T (p.Ile1206=) c.3606A>T (p.Ile1202=) c.3768A>T (p.Ile1256=) c.3087A>T (p.Ile1029=) c.4017A>T (p.Ile1339=) c.3996A>T (p.Ile1332=) c.3912A>T (p.Ile1304=) c.3888A>T (p.Ile1296=) c.3876A>T (p.Ile1292=) c.3855A>T (p.Ile1285=) n.4255A>T | |
7 | g.87402210T>C | CA368056798 | ABCB4 | c.3726A>G (p.Ile1242Met) c.3747A>G (p.Ile1249Met) c.3585A>G (p.Ile1195Met) c.160A>G n.338A>G c.3642A>G (p.Ile1214Met) c.3618A>G (p.Ile1206Met) c.3606A>G (p.Ile1202Met) c.3768A>G (p.Ile1256Met) c.3087A>G (p.Ile1029Met) c.4017A>G (p.Ile1339Met) c.3996A>G (p.Ile1332Met) c.3912A>G (p.Ile1304Met) c.3888A>G (p.Ile1296Met) c.3876A>G (p.Ile1292Met) c.3855A>G (p.Ile1285Met) n.4255A>G | gnomAD v4 |
7 | g.87402210T>G | CA456356160 | ABCB4 | c.3726A>C (p.Ile1242=) c.3747A>C (p.Ile1249=) c.3585A>C (p.Ile1195=) c.160A>C n.338A>C c.3642A>C (p.Ile1214=) c.3618A>C (p.Ile1206=) c.3606A>C (p.Ile1202=) c.3768A>C (p.Ile1256=) c.3087A>C (p.Ile1029=) c.4017A>C (p.Ile1339=) c.3996A>C (p.Ile1332=) c.3912A>C (p.Ile1304=) c.3888A>C (p.Ile1296=) c.3876A>C (p.Ile1292=) c.3855A>C (p.Ile1285=) n.4255A>C | |
7 | g.87402211A= | CA1723587116 | ABCB4 | c.3725T= (p.Ile1242=) c.3746T= (p.Ile1249=) c.3584T= (p.Ile1195=) c.159T= n.337T= c.3641T= (p.Ile1214=) c.3617T= (p.Ile1206=) c.3605T= (p.Ile1202=) c.3767T= (p.Ile1256=) c.3086T= (p.Ile1029=) c.4016T= (p.Ile1339=) c.3995T= (p.Ile1332=) c.3911T= (p.Ile1304=) c.3887T= (p.Ile1296=) c.3875T= (p.Ile1292=) c.3854T= (p.Ile1285=) n.4254T= | |
7 | g.87402211A>C | CA368056799 | ABCB4 | c.3725T>G (p.Ile1242Arg) c.3746T>G (p.Ile1249Arg) c.3584T>G (p.Ile1195Arg) c.159T>G n.337T>G c.3641T>G (p.Ile1214Arg) c.3617T>G (p.Ile1206Arg) c.3605T>G (p.Ile1202Arg) c.3767T>G (p.Ile1256Arg) c.3086T>G (p.Ile1029Arg) c.4016T>G (p.Ile1339Arg) c.3995T>G (p.Ile1332Arg) c.3911T>G (p.Ile1304Arg) c.3887T>G (p.Ile1296Arg) c.3875T>G (p.Ile1292Arg) c.3854T>G (p.Ile1285Arg) n.4254T>G | |
7 | g.87402211A>G | CA368056800 | ABCB4 | c.3725T>C (p.Ile1242Thr) c.3746T>C (p.Ile1249Thr) c.3584T>C (p.Ile1195Thr) c.159T>C n.337T>C c.3641T>C (p.Ile1214Thr) c.3617T>C (p.Ile1206Thr) c.3605T>C (p.Ile1202Thr) c.3767T>C (p.Ile1256Thr) c.3086T>C (p.Ile1029Thr) c.4016T>C (p.Ile1339Thr) c.3995T>C (p.Ile1332Thr) c.3911T>C (p.Ile1304Thr) c.3887T>C (p.Ile1296Thr) c.3875T>C (p.Ile1292Thr) c.3854T>C (p.Ile1285Thr) n.4254T>C | gnomAD v4 |
7 | g.87402211A>T | CA368056801 | ABCB4 | c.3725T>A (p.Ile1242Lys) c.3746T>A (p.Ile1249Lys) c.3584T>A (p.Ile1195Lys) c.159T>A n.337T>A c.3641T>A (p.Ile1214Lys) c.3617T>A (p.Ile1206Lys) c.3605T>A (p.Ile1202Lys) c.3767T>A (p.Ile1256Lys) c.3086T>A (p.Ile1029Lys) c.4016T>A (p.Ile1339Lys) c.3995T>A (p.Ile1332Lys) c.3911T>A (p.Ile1304Lys) c.3887T>A (p.Ile1296Lys) c.3875T>A (p.Ile1292Lys) c.3854T>A (p.Ile1285Lys) n.4254T>A | |
7 | g.87402212T>A | CA368056802 | ABCB4 | c.3724A>T (p.Ile1242Leu) c.3745A>T (p.Ile1249Leu) c.3583A>T (p.Ile1195Leu) c.158A>T n.336A>T c.3640A>T (p.Ile1214Leu) c.3616A>T (p.Ile1206Leu) c.3604A>T (p.Ile1202Leu) c.3766A>T (p.Ile1256Leu) c.3085A>T (p.Ile1029Leu) c.4015A>T (p.Ile1339Leu) c.3994A>T (p.Ile1332Leu) c.3910A>T (p.Ile1304Leu) c.3886A>T (p.Ile1296Leu) c.3874A>T (p.Ile1292Leu) c.3853A>T (p.Ile1285Leu) n.4253A>T | |
7 | g.87402212T>C | CA368056804 | ABCB4 | c.3724A>G (p.Ile1242Val) c.3745A>G (p.Ile1249Val) c.3583A>G (p.Ile1195Val) c.158A>G n.336A>G c.3640A>G (p.Ile1214Val) c.3616A>G (p.Ile1206Val) c.3604A>G (p.Ile1202Val) c.3766A>G (p.Ile1256Val) c.3085A>G (p.Ile1029Val) c.4015A>G (p.Ile1339Val) c.3994A>G (p.Ile1332Val) c.3910A>G (p.Ile1304Val) c.3886A>G (p.Ile1296Val) c.3874A>G (p.Ile1292Val) c.3853A>G (p.Ile1285Val) n.4253A>G | |
7 | g.87402212T>G | CA368056803 | ABCB4 | c.3724A>C (p.Ile1242Leu) c.3745A>C (p.Ile1249Leu) c.3583A>C (p.Ile1195Leu) c.158A>C n.336A>C c.3640A>C (p.Ile1214Leu) c.3616A>C (p.Ile1206Leu) c.3604A>C (p.Ile1202Leu) c.3766A>C (p.Ile1256Leu) c.3085A>C (p.Ile1029Leu) c.4015A>C (p.Ile1339Leu) c.3994A>C (p.Ile1332Leu) c.3910A>C (p.Ile1304Leu) c.3886A>C (p.Ile1296Leu) c.3874A>C (p.Ile1292Leu) c.3853A>C (p.Ile1285Leu) n.4253A>C | COSMIC COSMIC |
7 | g.87402213dup | CA913189682 | ABCB4 | c.3724dup (p.Ile1242AsnfsTer?) c.3745dup (p.Ile1249AsnfsTer?) c.3583dup (p.Ile1195AsnfsTer?) c.158dup n.336dup c.3640dup (p.Ile1214AsnfsTer?) c.3616dup (p.Ile1206AsnfsTer?) c.3604dup (p.Ile1202AsnfsTer?) c.3766dup (p.Ile1256AsnfsTer?) c.3085dup (p.Ile1029AsnfsTer?) c.4015dup (p.Ile1339AsnfsTer?) c.3994dup (p.Ile1332AsnfsTer?) c.3910dup (p.Ile1304AsnfsTer?) c.3886dup (p.Ile1296AsnfsTer?) c.3874dup (p.Ile1292AsnfsTer?) c.3853dup (p.Ile1285AsnfsTer?) n.4253dup | ClinVar dbSNP |
7 | g.87402213T>A | CA368056805 | ABCB4 | c.3723A>T (p.Leu1241Phe) c.3744A>T (p.Leu1248Phe) c.3582A>T (p.Leu1194Phe) c.157A>T n.335A>T c.3639A>T (p.Leu1213Phe) c.3615A>T (p.Leu1205Phe) c.3603A>T (p.Leu1201Phe) c.3765A>T (p.Leu1255Phe) c.3084A>T (p.Leu1028Phe) c.4014A>T (p.Leu1338Phe) c.3993A>T (p.Leu1331Phe) c.3909A>T (p.Leu1303Phe) c.3885A>T (p.Leu1295Phe) c.3873A>T (p.Leu1291Phe) c.3852A>T (p.Leu1284Phe) n.4252A>T | |
7 | g.87402213T>C | CA4326703 | ABCB4 | c.3723A>G (p.Leu1241=) c.3744A>G (p.Leu1248=) c.3582A>G (p.Leu1194=) c.157A>G n.335A>G c.3639A>G (p.Leu1213=) c.3615A>G (p.Leu1205=) c.3603A>G (p.Leu1201=) c.3765A>G (p.Leu1255=) c.3084A>G (p.Leu1028=) c.4014A>G (p.Leu1338=) c.3993A>G (p.Leu1331=) c.3909A>G (p.Leu1303=) c.3885A>G (p.Leu1295=) c.3873A>G (p.Leu1291=) c.3852A>G (p.Leu1284=) n.4252A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87402213T>G | CA162102574 | ABCB4 | c.3723A>C (p.Leu1241Phe) c.3744A>C (p.Leu1248Phe) c.3582A>C (p.Leu1194Phe) c.157A>C n.335A>C c.3639A>C (p.Leu1213Phe) c.3615A>C (p.Leu1205Phe) c.3603A>C (p.Leu1201Phe) c.3765A>C (p.Leu1255Phe) c.3084A>C (p.Leu1028Phe) c.4014A>C (p.Leu1338Phe) c.3993A>C (p.Leu1331Phe) c.3909A>C (p.Leu1303Phe) c.3885A>C (p.Leu1295Phe) c.3873A>C (p.Leu1291Phe) c.3852A>C (p.Leu1284Phe) n.4252A>C | dbSNP gnomAD v4 |
7 | g.87402213T= | CA1723587130 | ABCB4 | c.3723A= (p.Leu1241=) c.3744A= (p.Leu1248=) c.3582A= (p.Leu1194=) c.157A= n.335A= c.3639A= (p.Leu1213=) c.3615A= (p.Leu1205=) c.3603A= (p.Leu1201=) c.3765A= (p.Leu1255=) c.3084A= (p.Leu1028=) c.4014A= (p.Leu1338=) c.3993A= (p.Leu1331=) c.3909A= (p.Leu1303=) c.3885A= (p.Leu1295=) c.3873A= (p.Leu1291=) c.3852A= (p.Leu1284=) n.4252A= | |
7 | g.87402214A>C | CA368056806 | ABCB4 | c.3722T>G (p.Leu1241Ter) c.3743T>G (p.Leu1248Ter) c.3581T>G (p.Leu1194Ter) c.156T>G n.334T>G c.3638T>G (p.Leu1213Ter) c.3614T>G (p.Leu1205Ter) c.3602T>G (p.Leu1201Ter) c.3764T>G (p.Leu1255Ter) c.3083T>G (p.Leu1028Ter) c.4013T>G (p.Leu1338Ter) c.3992T>G (p.Leu1331Ter) c.3908T>G (p.Leu1303Ter) c.3884T>G (p.Leu1295Ter) c.3872T>G (p.Leu1291Ter) c.3851T>G (p.Leu1284Ter) n.4251T>G | |
7 | g.87402214A>G | CA368056807 | ABCB4 | c.3722T>C (p.Leu1241Ser) c.3743T>C (p.Leu1248Ser) c.3581T>C (p.Leu1194Ser) c.156T>C n.334T>C c.3638T>C (p.Leu1213Ser) c.3614T>C (p.Leu1205Ser) c.3602T>C (p.Leu1201Ser) c.3764T>C (p.Leu1255Ser) c.3083T>C (p.Leu1028Ser) c.4013T>C (p.Leu1338Ser) c.3992T>C (p.Leu1331Ser) c.3908T>C (p.Leu1303Ser) c.3884T>C (p.Leu1295Ser) c.3872T>C (p.Leu1291Ser) c.3851T>C (p.Leu1284Ser) n.4251T>C | |
7 | g.87402214A>T | CA368056808 | ABCB4 | c.3722T>A (p.Leu1241Ter) c.3743T>A (p.Leu1248Ter) c.3581T>A (p.Leu1194Ter) c.156T>A n.334T>A c.3638T>A (p.Leu1213Ter) c.3614T>A (p.Leu1205Ter) c.3602T>A (p.Leu1201Ter) c.3764T>A (p.Leu1255Ter) c.3083T>A (p.Leu1028Ter) c.4013T>A (p.Leu1338Ter) c.3992T>A (p.Leu1331Ter) c.3908T>A (p.Leu1303Ter) c.3884T>A (p.Leu1295Ter) c.3872T>A (p.Leu1291Ter) c.3851T>A (p.Leu1284Ter) n.4251T>A | |
7 | g.87402215A= | CA1723587135 | ABCB4 | c.3721T= (p.Leu1241=) c.3742T= (p.Leu1248=) c.3580T= (p.Leu1194=) c.155T= n.333T= c.3637T= (p.Leu1213=) c.3613T= (p.Leu1205=) c.3601T= (p.Leu1201=) c.3763T= (p.Leu1255=) c.3082T= (p.Leu1028=) c.4012T= (p.Leu1338=) c.3991T= (p.Leu1331=) c.3907T= (p.Leu1303=) c.3883T= (p.Leu1295=) c.3871T= (p.Leu1291=) c.3850T= (p.Leu1284=) n.4250T= | |
7 | g.87402215A>C | CA368056809 | ABCB4 | c.3721T>G (p.Leu1241Val) c.3742T>G (p.Leu1248Val) c.3580T>G (p.Leu1194Val) c.155T>G n.333T>G c.3637T>G (p.Leu1213Val) c.3613T>G (p.Leu1205Val) c.3601T>G (p.Leu1201Val) c.3763T>G (p.Leu1255Val) c.3082T>G (p.Leu1028Val) c.4012T>G (p.Leu1338Val) c.3991T>G (p.Leu1331Val) c.3907T>G (p.Leu1303Val) c.3883T>G (p.Leu1295Val) c.3871T>G (p.Leu1291Val) c.3850T>G (p.Leu1284Val) n.4250T>G | |
7 | g.87402215A>G | CA456356163 | ABCB4 | c.3721T>C (p.Leu1241=) c.3742T>C (p.Leu1248=) c.3580T>C (p.Leu1194=) c.155T>C n.333T>C c.3637T>C (p.Leu1213=) c.3613T>C (p.Leu1205=) c.3601T>C (p.Leu1201=) c.3763T>C (p.Leu1255=) c.3082T>C (p.Leu1028=) c.4012T>C (p.Leu1338=) c.3991T>C (p.Leu1331=) c.3907T>C (p.Leu1303=) c.3883T>C (p.Leu1295=) c.3871T>C (p.Leu1291=) c.3850T>C (p.Leu1284=) n.4250T>C | |
7 | g.87402215A>T | CA368056810 | ABCB4 | c.3721T>A (p.Leu1241Ile) c.3742T>A (p.Leu1248Ile) c.3580T>A (p.Leu1194Ile) c.155T>A n.333T>A c.3637T>A (p.Leu1213Ile) c.3613T>A (p.Leu1205Ile) c.3601T>A (p.Leu1201Ile) c.3763T>A (p.Leu1255Ile) c.3082T>A (p.Leu1028Ile) c.4012T>A (p.Leu1338Ile) c.3991T>A (p.Leu1331Ile) c.3907T>A (p.Leu1303Ile) c.3883T>A (p.Leu1295Ile) c.3871T>A (p.Leu1291Ile) c.3850T>A (p.Leu1284Ile) n.4250T>A | dbSNP |
7 | g.87402216G>A | CA456356164 | ABCB4 | c.3720C>T (p.Asp1240=) c.3741C>T (p.Asp1247=) c.3579C>T (p.Asp1193=) c.154C>T n.332C>T c.3636C>T (p.Asp1212=) c.3612C>T (p.Asp1204=) c.3600C>T (p.Asp1200=) c.3762C>T (p.Asp1254=) c.3081C>T (p.Asp1027=) c.4011C>T (p.Asp1337=) c.3990C>T (p.Asp1330=) c.3906C>T (p.Asp1302=) c.3882C>T (p.Asp1294=) c.3870C>T (p.Asp1290=) c.3849C>T (p.Asp1283=) n.4249C>T | gnomAD v4 |
7 | g.87402216G>C | CA368056811 | ABCB4 | c.3720C>G (p.Asp1240Glu) c.3741C>G (p.Asp1247Glu) c.3579C>G (p.Asp1193Glu) c.154C>G n.332C>G c.3636C>G (p.Asp1212Glu) c.3612C>G (p.Asp1204Glu) c.3600C>G (p.Asp1200Glu) c.3762C>G (p.Asp1254Glu) c.3081C>G (p.Asp1027Glu) c.4011C>G (p.Asp1337Glu) c.3990C>G (p.Asp1330Glu) c.3906C>G (p.Asp1302Glu) c.3882C>G (p.Asp1294Glu) c.3870C>G (p.Asp1290Glu) c.3849C>G (p.Asp1283Glu) n.4249C>G | |
7 | g.87402216G>T | CA368056812 | ABCB4 | c.3720C>A (p.Asp1240Glu) c.3741C>A (p.Asp1247Glu) c.3579C>A (p.Asp1193Glu) c.154C>A n.332C>A c.3636C>A (p.Asp1212Glu) c.3612C>A (p.Asp1204Glu) c.3600C>A (p.Asp1200Glu) c.3762C>A (p.Asp1254Glu) c.3081C>A (p.Asp1027Glu) c.4011C>A (p.Asp1337Glu) c.3990C>A (p.Asp1330Glu) c.3906C>A (p.Asp1302Glu) c.3882C>A (p.Asp1294Glu) c.3870C>A (p.Asp1290Glu) c.3849C>A (p.Asp1283Glu) n.4249C>A | |
7 | g.87402217T>A | CA368056815 | ABCB4 | c.3719A>T (p.Asp1240Val) c.3740A>T (p.Asp1247Val) c.3578A>T (p.Asp1193Val) c.153A>T n.331A>T c.3635A>T (p.Asp1212Val) c.3611A>T (p.Asp1204Val) c.3599A>T (p.Asp1200Val) c.3761A>T (p.Asp1254Val) c.3080A>T (p.Asp1027Val) c.4010A>T (p.Asp1337Val) c.3989A>T (p.Asp1330Val) c.3905A>T (p.Asp1302Val) c.3881A>T (p.Asp1294Val) c.3869A>T (p.Asp1290Val) c.3848A>T (p.Asp1283Val) n.4248A>T | |
7 | g.87402217T>C | CA368056814 | ABCB4 | c.3719A>G (p.Asp1240Gly) c.3740A>G (p.Asp1247Gly) c.3578A>G (p.Asp1193Gly) c.153A>G n.331A>G c.3635A>G (p.Asp1212Gly) c.3611A>G (p.Asp1204Gly) c.3599A>G (p.Asp1200Gly) c.3761A>G (p.Asp1254Gly) c.3080A>G (p.Asp1027Gly) c.4010A>G (p.Asp1337Gly) c.3989A>G (p.Asp1330Gly) c.3905A>G (p.Asp1302Gly) c.3881A>G (p.Asp1294Gly) c.3869A>G (p.Asp1290Gly) c.3848A>G (p.Asp1283Gly) n.4248A>G | |
7 | g.87402217T>G | CA368056813 | ABCB4 | c.3719A>C (p.Asp1240Ala) c.3740A>C (p.Asp1247Ala) c.3578A>C (p.Asp1193Ala) c.153A>C n.331A>C c.3635A>C (p.Asp1212Ala) c.3611A>C (p.Asp1204Ala) c.3599A>C (p.Asp1200Ala) c.3761A>C (p.Asp1254Ala) c.3080A>C (p.Asp1027Ala) c.4010A>C (p.Asp1337Ala) c.3989A>C (p.Asp1330Ala) c.3905A>C (p.Asp1302Ala) c.3881A>C (p.Asp1294Ala) c.3869A>C (p.Asp1290Ala) c.3848A>C (p.Asp1283Ala) n.4248A>C | |
7 | g.87402218C>A | CA368056819 | ABCB4 | c.3718G>T (p.Asp1240Tyr) c.3739G>T (p.Asp1247Tyr) c.3577G>T (p.Asp1193Tyr) c.152G>T n.330G>T c.3634G>T (p.Asp1212Tyr) c.3610G>T (p.Asp1204Tyr) c.3598G>T (p.Asp1200Tyr) c.3760G>T (p.Asp1254Tyr) c.3079G>T (p.Asp1027Tyr) c.4009G>T (p.Asp1337Tyr) c.3988G>T (p.Asp1330Tyr) c.3904G>T (p.Asp1302Tyr) c.3880G>T (p.Asp1294Tyr) c.3868G>T (p.Asp1290Tyr) c.3847G>T (p.Asp1283Tyr) n.4247G>T | |
7 | g.87402218C= | CA1723587138 | ABCB4 | c.3718G= (p.Asp1240=) c.3739G= (p.Asp1247=) c.3577G= (p.Asp1193=) c.152G= n.330G= c.3634G= (p.Asp1212=) c.3610G= (p.Asp1204=) c.3598G= (p.Asp1200=) c.3760G= (p.Asp1254=) c.3079G= (p.Asp1027=) c.4009G= (p.Asp1337=) c.3988G= (p.Asp1330=) c.3904G= (p.Asp1302=) c.3880G= (p.Asp1294=) c.3868G= (p.Asp1290=) c.3847G= (p.Asp1283=) n.4247G= | |
7 | g.87402218C>G | CA368056816 | ABCB4 | c.3718G>C (p.Asp1240His) c.3739G>C (p.Asp1247His) c.3577G>C (p.Asp1193His) c.152G>C n.330G>C c.3634G>C (p.Asp1212His) c.3610G>C (p.Asp1204His) c.3598G>C (p.Asp1200His) c.3760G>C (p.Asp1254His) c.3079G>C (p.Asp1027His) c.4009G>C (p.Asp1337His) c.3988G>C (p.Asp1330His) c.3904G>C (p.Asp1302His) c.3880G>C (p.Asp1294His) c.3868G>C (p.Asp1290His) c.3847G>C (p.Asp1283His) n.4247G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402218C>T | CA368056817 | ABCB4 | c.3718G>A (p.Asp1240Asn) c.3739G>A (p.Asp1247Asn) c.3577G>A (p.Asp1193Asn) c.152G>A n.330G>A c.3634G>A (p.Asp1212Asn) c.3610G>A (p.Asp1204Asn) c.3598G>A (p.Asp1200Asn) c.3760G>A (p.Asp1254Asn) c.3079G>A (p.Asp1027Asn) c.4009G>A (p.Asp1337Asn) c.3988G>A (p.Asp1330Asn) c.3904G>A (p.Asp1302Asn) c.3880G>A (p.Asp1294Asn) c.3868G>A (p.Asp1290Asn) c.3847G>A (p.Asp1283Asn) n.4247G>A | |
7 | g.87402219T>A | CA456356169 | ABCB4 | c.3717A>T (p.Ala1239=) c.3738A>T (p.Ala1246=) c.3576A>T (p.Ala1192=) c.151A>T n.329A>T c.3633A>T (p.Ala1211=) c.3609A>T (p.Ala1203=) c.3597A>T (p.Ala1199=) c.3759A>T (p.Ala1253=) c.3078A>T (p.Ala1026=) c.4008A>T (p.Ala1336=) c.3987A>T (p.Ala1329=) c.3903A>T (p.Ala1301=) c.3879A>T (p.Ala1293=) c.3867A>T (p.Ala1289=) c.3846A>T (p.Ala1282=) n.4246A>T | |
7 | g.87402219T>C | CA456356170 | ABCB4 | c.3717A>G (p.Ala1239=) c.3738A>G (p.Ala1246=) c.3576A>G (p.Ala1192=) c.151A>G n.329A>G c.3633A>G (p.Ala1211=) c.3609A>G (p.Ala1203=) c.3597A>G (p.Ala1199=) c.3759A>G (p.Ala1253=) c.3078A>G (p.Ala1026=) c.4008A>G (p.Ala1336=) c.3987A>G (p.Ala1329=) c.3903A>G (p.Ala1301=) c.3879A>G (p.Ala1293=) c.3867A>G (p.Ala1289=) c.3846A>G (p.Ala1282=) n.4246A>G | |
7 | g.87402219T>G | CA456356172 | ABCB4 | c.3717A>C (p.Ala1239=) c.3738A>C (p.Ala1246=) c.3576A>C (p.Ala1192=) c.151A>C n.329A>C c.3633A>C (p.Ala1211=) c.3609A>C (p.Ala1203=) c.3597A>C (p.Ala1199=) c.3759A>C (p.Ala1253=) c.3078A>C (p.Ala1026=) c.4008A>C (p.Ala1336=) c.3987A>C (p.Ala1329=) c.3903A>C (p.Ala1301=) c.3879A>C (p.Ala1293=) c.3867A>C (p.Ala1289=) c.3846A>C (p.Ala1282=) n.4246A>C | |
7 | g.87402220G>A | CA368056822 | ABCB4 | c.3716C>T (p.Ala1239Val) c.3737C>T (p.Ala1246Val) c.3575C>T (p.Ala1192Val) c.150C>T n.328C>T c.3632C>T (p.Ala1211Val) c.3608C>T (p.Ala1203Val) c.3596C>T (p.Ala1199Val) c.3758C>T (p.Ala1253Val) c.3077C>T (p.Ala1026Val) c.4007C>T (p.Ala1336Val) c.3986C>T (p.Ala1329Val) c.3902C>T (p.Ala1301Val) c.3878C>T (p.Ala1293Val) c.3866C>T (p.Ala1289Val) c.3845C>T (p.Ala1282Val) n.4245C>T | |
7 | g.87402220G>C | CA368056826 | ABCB4 | c.3716C>G (p.Ala1239Gly) c.3737C>G (p.Ala1246Gly) c.3575C>G (p.Ala1192Gly) c.150C>G n.328C>G c.3632C>G (p.Ala1211Gly) c.3608C>G (p.Ala1203Gly) c.3596C>G (p.Ala1199Gly) c.3758C>G (p.Ala1253Gly) c.3077C>G (p.Ala1026Gly) c.4007C>G (p.Ala1336Gly) c.3986C>G (p.Ala1329Gly) c.3902C>G (p.Ala1301Gly) c.3878C>G (p.Ala1293Gly) c.3866C>G (p.Ala1289Gly) c.3845C>G (p.Ala1282Gly) n.4245C>G | |
7 | g.87402220G>T | CA368056829 | ABCB4 | c.3716C>A (p.Ala1239Glu) c.3737C>A (p.Ala1246Glu) c.3575C>A (p.Ala1192Glu) c.150C>A n.328C>A c.3632C>A (p.Ala1211Glu) c.3608C>A (p.Ala1203Glu) c.3596C>A (p.Ala1199Glu) c.3758C>A (p.Ala1253Glu) c.3077C>A (p.Ala1026Glu) c.4007C>A (p.Ala1336Glu) c.3986C>A (p.Ala1329Glu) c.3902C>A (p.Ala1301Glu) c.3878C>A (p.Ala1293Glu) c.3866C>A (p.Ala1289Glu) c.3845C>A (p.Ala1282Glu) n.4245C>A | gnomAD v4 |
7 | g.87402221C>A | CA368056830 | ABCB4 | c.3715G>T (p.Ala1239Ser) c.3736G>T (p.Ala1246Ser) c.3574G>T (p.Ala1192Ser) c.149G>T n.327G>T c.3631G>T (p.Ala1211Ser) c.3607G>T (p.Ala1203Ser) c.3595G>T (p.Ala1199Ser) c.3757G>T (p.Ala1253Ser) c.3076G>T (p.Ala1026Ser) c.4006G>T (p.Ala1336Ser) c.3985G>T (p.Ala1329Ser) c.3901G>T (p.Ala1301Ser) c.3877G>T (p.Ala1293Ser) c.3865G>T (p.Ala1289Ser) c.3844G>T (p.Ala1282Ser) n.4244G>T | gnomAD v4 |
7 | g.87402221C>G | CA368056831 | ABCB4 | c.3715G>C (p.Ala1239Pro) c.3736G>C (p.Ala1246Pro) c.3574G>C (p.Ala1192Pro) c.149G>C n.327G>C c.3631G>C (p.Ala1211Pro) c.3607G>C (p.Ala1203Pro) c.3595G>C (p.Ala1199Pro) c.3757G>C (p.Ala1253Pro) c.3076G>C (p.Ala1026Pro) c.4006G>C (p.Ala1336Pro) c.3985G>C (p.Ala1329Pro) c.3901G>C (p.Ala1301Pro) c.3877G>C (p.Ala1293Pro) c.3865G>C (p.Ala1289Pro) c.3844G>C (p.Ala1282Pro) n.4244G>C | |
7 | g.87402221C>T | CA368056833 | ABCB4 | c.3715G>A (p.Ala1239Thr) c.3736G>A (p.Ala1246Thr) c.3574G>A (p.Ala1192Thr) c.149G>A n.327G>A c.3631G>A (p.Ala1211Thr) c.3607G>A (p.Ala1203Thr) c.3595G>A (p.Ala1199Thr) c.3757G>A (p.Ala1253Thr) c.3076G>A (p.Ala1026Thr) c.4006G>A (p.Ala1336Thr) c.3985G>A (p.Ala1329Thr) c.3901G>A (p.Ala1301Thr) c.3877G>A (p.Ala1293Thr) c.3865G>A (p.Ala1289Thr) c.3844G>A (p.Ala1282Thr) n.4244G>A | |
7 | g.87402222A>C | CA368056835 | ABCB4 | c.3714T>G (p.Asn1238Lys) c.3735T>G (p.Asn1245Lys) c.3573T>G (p.Asn1191Lys) c.148T>G n.326T>G c.3630T>G (p.Asn1210Lys) c.3606T>G (p.Asn1202Lys) c.3594T>G (p.Asn1198Lys) c.3756T>G (p.Asn1252Lys) c.3075T>G (p.Asn1025Lys) c.4005T>G (p.Asn1335Lys) c.3984T>G (p.Asn1328Lys) c.3900T>G (p.Asn1300Lys) c.3876T>G (p.Asn1292Lys) c.3864T>G (p.Asn1288Lys) c.3843T>G (p.Asn1281Lys) n.4243T>G | |
7 | g.87402222A>G | CA456356176 | ABCB4 | c.3714T>C (p.Asn1238=) c.3735T>C (p.Asn1245=) c.3573T>C (p.Asn1191=) c.148T>C n.326T>C c.3630T>C (p.Asn1210=) c.3606T>C (p.Asn1202=) c.3594T>C (p.Asn1198=) c.3756T>C (p.Asn1252=) c.3075T>C (p.Asn1025=) c.4005T>C (p.Asn1335=) c.3984T>C (p.Asn1328=) c.3900T>C (p.Asn1300=) c.3876T>C (p.Asn1292=) c.3864T>C (p.Asn1288=) c.3843T>C (p.Asn1281=) n.4243T>C | |
7 | g.87402222A>T | CA368056837 | ABCB4 | c.3714T>A (p.Asn1238Lys) c.3735T>A (p.Asn1245Lys) c.3573T>A (p.Asn1191Lys) c.148T>A n.326T>A c.3630T>A (p.Asn1210Lys) c.3606T>A (p.Asn1202Lys) c.3594T>A (p.Asn1198Lys) c.3756T>A (p.Asn1252Lys) c.3075T>A (p.Asn1025Lys) c.4005T>A (p.Asn1335Lys) c.3984T>A (p.Asn1328Lys) c.3900T>A (p.Asn1300Lys) c.3876T>A (p.Asn1292Lys) c.3864T>A (p.Asn1288Lys) c.3843T>A (p.Asn1281Lys) n.4243T>A | |
7 | g.87402224_87402225insTAGTTATT | CA2683598159 | ABCB4 | c.3714_3715insAACTAAAT (p.Ala1239AsnfsTer2) c.3735_3736insAACTAAAT (p.Ala1246AsnfsTer2) c.3573_3574insAACTAAAT (p.Ala1192AsnfsTer2) c.148_149insAACTAAAT n.326_327insAACTAAAT c.3630_3631insAACTAAAT (p.Ala1211AsnfsTer2) c.3606_3607insAACTAAAT (p.Ala1203AsnfsTer2) c.3594_3595insAACTAAAT (p.Ala1199AsnfsTer2) c.3756_3757insAACTAAAT (p.Ala1253AsnfsTer2) c.3075_3076insAACTAAAT (p.Ala1026AsnfsTer2) c.4005_4006insAACTAAAT (p.Ala1336AsnfsTer2) c.3984_3985insAACTAAAT (p.Ala1329AsnfsTer2) c.3900_3901insAACTAAAT (p.Ala1301AsnfsTer2) c.3876_3877insAACTAAAT (p.Ala1293AsnfsTer2) c.3864_3865insAACTAAAT (p.Ala1289AsnfsTer2) c.3843_3844insAACTAAAT (p.Ala1282AsnfsTer2) n.4243_4244insAACTAAAT | gnomAD v4 |
7 | g.87402223T>A | CA368056839 | ABCB4 | c.3713A>T (p.Asn1238Ile) c.3734A>T (p.Asn1245Ile) c.3572A>T (p.Asn1191Ile) c.147A>T n.325A>T c.3629A>T (p.Asn1210Ile) c.3605A>T (p.Asn1202Ile) c.3593A>T (p.Asn1198Ile) c.3755A>T (p.Asn1252Ile) c.3074A>T (p.Asn1025Ile) c.4004A>T (p.Asn1335Ile) c.3983A>T (p.Asn1328Ile) c.3899A>T (p.Asn1300Ile) c.3875A>T (p.Asn1292Ile) c.3863A>T (p.Asn1288Ile) c.3842A>T (p.Asn1281Ile) n.4242A>T | |
7 | g.87402223T>C | CA368056841 | ABCB4 | c.3713A>G (p.Asn1238Ser) c.3734A>G (p.Asn1245Ser) c.3572A>G (p.Asn1191Ser) c.147A>G n.325A>G c.3629A>G (p.Asn1210Ser) c.3605A>G (p.Asn1202Ser) c.3593A>G (p.Asn1198Ser) c.3755A>G (p.Asn1252Ser) c.3074A>G (p.Asn1025Ser) c.4004A>G (p.Asn1335Ser) c.3983A>G (p.Asn1328Ser) c.3899A>G (p.Asn1300Ser) c.3875A>G (p.Asn1292Ser) c.3863A>G (p.Asn1288Ser) c.3842A>G (p.Asn1281Ser) n.4242A>G | |
7 | g.87402223T>G | CA368056843 | ABCB4 | c.3713A>C (p.Asn1238Thr) c.3734A>C (p.Asn1245Thr) c.3572A>C (p.Asn1191Thr) c.147A>C n.325A>C c.3629A>C (p.Asn1210Thr) c.3605A>C (p.Asn1202Thr) c.3593A>C (p.Asn1198Thr) c.3755A>C (p.Asn1252Thr) c.3074A>C (p.Asn1025Thr) c.4004A>C (p.Asn1335Thr) c.3983A>C (p.Asn1328Thr) c.3899A>C (p.Asn1300Thr) c.3875A>C (p.Asn1292Thr) c.3863A>C (p.Asn1288Thr) c.3842A>C (p.Asn1281Thr) n.4242A>C | |
7 | g.87402224T>A | CA368056848 | ABCB4 | c.3712A>T (p.Asn1238Tyr) c.3733A>T (p.Asn1245Tyr) c.3571A>T (p.Asn1191Tyr) c.146A>T n.324A>T c.3628A>T (p.Asn1210Tyr) c.3604A>T (p.Asn1202Tyr) c.3592A>T (p.Asn1198Tyr) c.3754A>T (p.Asn1252Tyr) c.3073A>T (p.Asn1025Tyr) c.4003A>T (p.Asn1335Tyr) c.3982A>T (p.Asn1328Tyr) c.3898A>T (p.Asn1300Tyr) c.3874A>T (p.Asn1292Tyr) c.3862A>T (p.Asn1288Tyr) c.3841A>T (p.Asn1281Tyr) n.4241A>T | |
7 | g.87402224T>C | CA368056845 | ABCB4 | c.3712A>G (p.Asn1238Asp) c.3733A>G (p.Asn1245Asp) c.3571A>G (p.Asn1191Asp) c.146A>G n.324A>G c.3628A>G (p.Asn1210Asp) c.3604A>G (p.Asn1202Asp) c.3592A>G (p.Asn1198Asp) c.3754A>G (p.Asn1252Asp) c.3073A>G (p.Asn1025Asp) c.4003A>G (p.Asn1335Asp) c.3982A>G (p.Asn1328Asp) c.3898A>G (p.Asn1300Asp) c.3874A>G (p.Asn1292Asp) c.3862A>G (p.Asn1288Asp) c.3841A>G (p.Asn1281Asp) n.4241A>G | |
7 | g.87402224T>G | CA368056847 | ABCB4 | c.3712A>C (p.Asn1238His) c.3733A>C (p.Asn1245His) c.3571A>C (p.Asn1191His) c.146A>C n.324A>C c.3628A>C (p.Asn1210His) c.3604A>C (p.Asn1202His) c.3592A>C (p.Asn1198His) c.3754A>C (p.Asn1252His) c.3073A>C (p.Asn1025His) c.4003A>C (p.Asn1335His) c.3982A>C (p.Asn1328His) c.3898A>C (p.Asn1300His) c.3874A>C (p.Asn1292His) c.3862A>C (p.Asn1288His) c.3841A>C (p.Asn1281His) n.4241A>C | |
7 | g.87402225C>A | CA368056850 | ABCB4 | c.3711G>T (p.Gln1237His) c.3732G>T (p.Gln1244His) c.3570G>T (p.Gln1190His) c.145G>T n.323G>T c.3627G>T (p.Gln1209His) c.3603G>T (p.Gln1201His) c.3591G>T (p.Gln1197His) c.3753G>T (p.Gln1251His) c.3072G>T (p.Gln1024His) c.4002G>T (p.Gln1334His) c.3981G>T (p.Gln1327His) c.3897G>T (p.Gln1299His) c.3873G>T (p.Gln1291His) c.3861G>T (p.Gln1287His) c.3840G>T (p.Gln1280His) n.4240G>T | COSMIC COSMIC |
7 | g.87402225C>G | CA368056852 | ABCB4 | c.3711G>C (p.Gln1237His) c.3732G>C (p.Gln1244His) c.3570G>C (p.Gln1190His) c.145G>C n.323G>C c.3627G>C (p.Gln1209His) c.3603G>C (p.Gln1201His) c.3591G>C (p.Gln1197His) c.3753G>C (p.Gln1251His) c.3072G>C (p.Gln1024His) c.4002G>C (p.Gln1334His) c.3981G>C (p.Gln1327His) c.3897G>C (p.Gln1299His) c.3873G>C (p.Gln1291His) c.3861G>C (p.Gln1287His) c.3840G>C (p.Gln1280His) n.4240G>C | |
7 | g.87402225C>T | CA456356259 | ABCB4 | c.3711G>A (p.Gln1237=) c.3732G>A (p.Gln1244=) c.3570G>A (p.Gln1190=) c.145G>A n.323G>A c.3627G>A (p.Gln1209=) c.3603G>A (p.Gln1201=) c.3591G>A (p.Gln1197=) c.3753G>A (p.Gln1251=) c.3072G>A (p.Gln1024=) c.4002G>A (p.Gln1334=) c.3981G>A (p.Gln1327=) c.3897G>A (p.Gln1299=) c.3873G>A (p.Gln1291=) c.3861G>A (p.Gln1287=) c.3840G>A (p.Gln1280=) n.4240G>A | |
7 | g.87402225_87402226insATGTACAAAATTATCCAATTAGGTTTTAA | CA2683598160 | ABCB4 | c.3710_3711insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1237HisfsTer2) c.3731_3732insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1244HisfsTer2) c.3569_3570insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1190HisfsTer2) c.144_145insTTAAAACCTAATTGGATAATTTTGTACAT n.322_323insTTAAAACCTAATTGGATAATTTTGTACAT c.3626_3627insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1209HisfsTer2) c.3602_3603insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1201HisfsTer2) c.3590_3591insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1197HisfsTer2) c.3752_3753insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1251HisfsTer2) c.3071_3072insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1024HisfsTer2) c.4001_4002insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1334HisfsTer2) c.3980_3981insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1327HisfsTer2) c.3896_3897insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1299HisfsTer2) c.3872_3873insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1291HisfsTer2) c.3860_3861insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1287HisfsTer2) c.3839_3840insTTAAAACCTAATTGGATAATTTTGTACAT (p.Gln1280HisfsTer2) n.4239_4240insTTAAAACCTAATTGGATAATTTTGTACAT | gnomAD v4 |
7 | g.87402226T>A | CA368056854 | ABCB4 | c.3710A>T (p.Gln1237Leu) c.3731A>T (p.Gln1244Leu) c.3569A>T (p.Gln1190Leu) c.144A>T n.322A>T c.3626A>T (p.Gln1209Leu) c.3602A>T (p.Gln1201Leu) c.3590A>T (p.Gln1197Leu) c.3752A>T (p.Gln1251Leu) c.3071A>T (p.Gln1024Leu) c.4001A>T (p.Gln1334Leu) c.3980A>T (p.Gln1327Leu) c.3896A>T (p.Gln1299Leu) c.3872A>T (p.Gln1291Leu) c.3860A>T (p.Gln1287Leu) c.3839A>T (p.Gln1280Leu) n.4239A>T | |
7 | g.87402226T>C | CA368056856 | ABCB4 | c.3710A>G (p.Gln1237Arg) c.3731A>G (p.Gln1244Arg) c.3569A>G (p.Gln1190Arg) c.144A>G n.322A>G c.3626A>G (p.Gln1209Arg) c.3602A>G (p.Gln1201Arg) c.3590A>G (p.Gln1197Arg) c.3752A>G (p.Gln1251Arg) c.3071A>G (p.Gln1024Arg) c.4001A>G (p.Gln1334Arg) c.3980A>G (p.Gln1327Arg) c.3896A>G (p.Gln1299Arg) c.3872A>G (p.Gln1291Arg) c.3860A>G (p.Gln1287Arg) c.3839A>G (p.Gln1280Arg) n.4239A>G | COSMIC COSMIC |
7 | g.87402226T>G | CA368056858 | ABCB4 | c.3710A>C (p.Gln1237Pro) c.3731A>C (p.Gln1244Pro) c.3569A>C (p.Gln1190Pro) c.144A>C n.322A>C c.3626A>C (p.Gln1209Pro) c.3602A>C (p.Gln1201Pro) c.3590A>C (p.Gln1197Pro) c.3752A>C (p.Gln1251Pro) c.3071A>C (p.Gln1024Pro) c.4001A>C (p.Gln1334Pro) c.3980A>C (p.Gln1327Pro) c.3896A>C (p.Gln1299Pro) c.3872A>C (p.Gln1291Pro) c.3860A>C (p.Gln1287Pro) c.3839A>C (p.Gln1280Pro) n.4239A>C | |
7 | g.87402227G>A | CA368056860 | ABCB4 | c.3709C>T (p.Gln1237Ter) c.3730C>T (p.Gln1244Ter) c.3568C>T (p.Gln1190Ter) c.143C>T n.321C>T c.3625C>T (p.Gln1209Ter) c.3601C>T (p.Gln1201Ter) c.3589C>T (p.Gln1197Ter) c.3751C>T (p.Gln1251Ter) c.3070C>T (p.Gln1024Ter) c.4000C>T (p.Gln1334Ter) c.3979C>T (p.Gln1327Ter) c.3895C>T (p.Gln1299Ter) c.3871C>T (p.Gln1291Ter) c.3859C>T (p.Gln1287Ter) c.3838C>T (p.Gln1280Ter) n.4238C>T | gnomAD v4 |
7 | g.87402227G>C | CA4326704 | ABCB4 | c.3709C>G (p.Gln1237Glu) c.3730C>G (p.Gln1244Glu) c.3568C>G (p.Gln1190Glu) c.143C>G n.321C>G c.3625C>G (p.Gln1209Glu) c.3601C>G (p.Gln1201Glu) c.3589C>G (p.Gln1197Glu) c.3751C>G (p.Gln1251Glu) c.3070C>G (p.Gln1024Glu) c.4000C>G (p.Gln1334Glu) c.3979C>G (p.Gln1327Glu) c.3895C>G (p.Gln1299Glu) c.3871C>G (p.Gln1291Glu) c.3859C>G (p.Gln1287Glu) c.3838C>G (p.Gln1280Glu) n.4238C>G | dbSNP ExAC gnomAD v2 |
7 | g.87402227G= | CA1723587142 | ABCB4 | c.3709C= (p.Gln1237=) c.3730C= (p.Gln1244=) c.3568C= (p.Gln1190=) c.143C= n.321C= c.3625C= (p.Gln1209=) c.3601C= (p.Gln1201=) c.3589C= (p.Gln1197=) c.3751C= (p.Gln1251=) c.3070C= (p.Gln1024=) c.4000C= (p.Gln1334=) c.3979C= (p.Gln1327=) c.3895C= (p.Gln1299=) c.3871C= (p.Gln1291=) c.3859C= (p.Gln1287=) c.3838C= (p.Gln1280=) n.4238C= | |
7 | g.87402227G>T | CA368056863 | ABCB4 | c.3709C>A (p.Gln1237Lys) c.3730C>A (p.Gln1244Lys) c.3568C>A (p.Gln1190Lys) c.143C>A n.321C>A c.3625C>A (p.Gln1209Lys) c.3601C>A (p.Gln1201Lys) c.3589C>A (p.Gln1197Lys) c.3751C>A (p.Gln1251Lys) c.3070C>A (p.Gln1024Lys) c.4000C>A (p.Gln1334Lys) c.3979C>A (p.Gln1327Lys) c.3895C>A (p.Gln1299Lys) c.3871C>A (p.Gln1291Lys) c.3859C>A (p.Gln1287Lys) c.3838C>A (p.Gln1280Lys) n.4238C>A | COSMIC COSMIC |
7 | g.87402228G>A | CA456356261 | ABCB4 | c.3708C>T (p.Ile1236=) c.3729C>T (p.Ile1243=) c.3567C>T (p.Ile1189=) c.142C>T n.320C>T c.3624C>T (p.Ile1208=) c.3600C>T (p.Ile1200=) c.3588C>T (p.Ile1196=) c.3750C>T (p.Ile1250=) c.3069C>T (p.Ile1023=) c.3999C>T (p.Ile1333=) c.3978C>T (p.Ile1326=) c.3894C>T (p.Ile1298=) c.3870C>T (p.Ile1290=) c.3858C>T (p.Ile1286=) c.3837C>T (p.Ile1279=) n.4237C>T | gnomAD v4 |
7 | g.87402228G>C | CA368056865 | ABCB4 | c.3708C>G (p.Ile1236Met) c.3729C>G (p.Ile1243Met) c.3567C>G (p.Ile1189Met) c.142C>G n.320C>G c.3624C>G (p.Ile1208Met) c.3600C>G (p.Ile1200Met) c.3588C>G (p.Ile1196Met) c.3750C>G (p.Ile1250Met) c.3069C>G (p.Ile1023Met) c.3999C>G (p.Ile1333Met) c.3978C>G (p.Ile1326Met) c.3894C>G (p.Ile1298Met) c.3870C>G (p.Ile1290Met) c.3858C>G (p.Ile1286Met) c.3837C>G (p.Ile1279Met) n.4237C>G | |
7 | g.87402228G>T | CA456356263 | ABCB4 | c.3708C>A (p.Ile1236=) c.3729C>A (p.Ile1243=) c.3567C>A (p.Ile1189=) c.142C>A n.320C>A c.3624C>A (p.Ile1208=) c.3600C>A (p.Ile1200=) c.3588C>A (p.Ile1196=) c.3750C>A (p.Ile1250=) c.3069C>A (p.Ile1023=) c.3999C>A (p.Ile1333=) c.3978C>A (p.Ile1326=) c.3894C>A (p.Ile1298=) c.3870C>A (p.Ile1290=) c.3858C>A (p.Ile1286=) c.3837C>A (p.Ile1279=) n.4237C>A | dbSNP |
7 | g.87402229A>C | CA368056868 | ABCB4 | c.3707T>G (p.Ile1236Ser) c.3728T>G (p.Ile1243Ser) c.3566T>G (p.Ile1189Ser) c.141T>G n.319T>G c.3623T>G (p.Ile1208Ser) c.3599T>G (p.Ile1200Ser) c.3587T>G (p.Ile1196Ser) c.3749T>G (p.Ile1250Ser) c.3068T>G (p.Ile1023Ser) c.3998T>G (p.Ile1333Ser) c.3977T>G (p.Ile1326Ser) c.3893T>G (p.Ile1298Ser) c.3869T>G (p.Ile1290Ser) c.3857T>G (p.Ile1286Ser) c.3836T>G (p.Ile1279Ser) n.4236T>G | |
7 | g.87402229A>G | CA368056869 | ABCB4 | c.3707T>C (p.Ile1236Thr) c.3728T>C (p.Ile1243Thr) c.3566T>C (p.Ile1189Thr) c.141T>C n.319T>C c.3623T>C (p.Ile1208Thr) c.3599T>C (p.Ile1200Thr) c.3587T>C (p.Ile1196Thr) c.3749T>C (p.Ile1250Thr) c.3068T>C (p.Ile1023Thr) c.3998T>C (p.Ile1333Thr) c.3977T>C (p.Ile1326Thr) c.3893T>C (p.Ile1298Thr) c.3869T>C (p.Ile1290Thr) c.3857T>C (p.Ile1286Thr) c.3836T>C (p.Ile1279Thr) n.4236T>C | |
7 | g.87402229A>T | CA368056871 | ABCB4 | c.3707T>A (p.Ile1236Asn) c.3728T>A (p.Ile1243Asn) c.3566T>A (p.Ile1189Asn) c.141T>A n.319T>A c.3623T>A (p.Ile1208Asn) c.3599T>A (p.Ile1200Asn) c.3587T>A (p.Ile1196Asn) c.3749T>A (p.Ile1250Asn) c.3068T>A (p.Ile1023Asn) c.3998T>A (p.Ile1333Asn) c.3977T>A (p.Ile1326Asn) c.3893T>A (p.Ile1298Asn) c.3869T>A (p.Ile1290Asn) c.3857T>A (p.Ile1286Asn) c.3836T>A (p.Ile1279Asn) n.4236T>A | |
7 | g.87402230T>A | CA368056876 | ABCB4 | c.3706A>T (p.Ile1236Phe) c.3727A>T (p.Ile1243Phe) c.3565A>T (p.Ile1189Phe) c.140A>T n.318A>T c.3622A>T (p.Ile1208Phe) c.3598A>T (p.Ile1200Phe) c.3586A>T (p.Ile1196Phe) c.3748A>T (p.Ile1250Phe) c.3067A>T (p.Ile1023Phe) c.3997A>T (p.Ile1333Phe) c.3976A>T (p.Ile1326Phe) c.3892A>T (p.Ile1298Phe) c.3868A>T (p.Ile1290Phe) c.3856A>T (p.Ile1286Phe) c.3835A>T (p.Ile1279Phe) n.4235A>T | |
7 | g.87402230T>C | CA368056878 | ABCB4 | c.3706A>G (p.Ile1236Val) c.3727A>G (p.Ile1243Val) c.3565A>G (p.Ile1189Val) c.140A>G n.318A>G c.3622A>G (p.Ile1208Val) c.3598A>G (p.Ile1200Val) c.3586A>G (p.Ile1196Val) c.3748A>G (p.Ile1250Val) c.3067A>G (p.Ile1023Val) c.3997A>G (p.Ile1333Val) c.3976A>G (p.Ile1326Val) c.3892A>G (p.Ile1298Val) c.3868A>G (p.Ile1290Val) c.3856A>G (p.Ile1286Val) c.3835A>G (p.Ile1279Val) n.4235A>G | |
7 | g.87402230T>G | CA368056874 | ABCB4 | c.3706A>C (p.Ile1236Leu) c.3727A>C (p.Ile1243Leu) c.3565A>C (p.Ile1189Leu) c.140A>C n.318A>C c.3622A>C (p.Ile1208Leu) c.3598A>C (p.Ile1200Leu) c.3586A>C (p.Ile1196Leu) c.3748A>C (p.Ile1250Leu) c.3067A>C (p.Ile1023Leu) c.3997A>C (p.Ile1333Leu) c.3976A>C (p.Ile1326Leu) c.3892A>C (p.Ile1298Leu) c.3868A>C (p.Ile1290Leu) c.3856A>C (p.Ile1286Leu) c.3835A>C (p.Ile1279Leu) n.4235A>C | |
7 | g.87402231G>A | CA4326705 | ABCB4 | c.3705C>T (p.Thr1235=) c.3726C>T (p.Thr1242=) c.3564C>T (p.Thr1188=) c.139C>T n.317C>T c.3621C>T (p.Thr1207=) c.3597C>T (p.Thr1199=) c.3585C>T (p.Thr1195=) c.3747C>T (p.Thr1249=) c.3066C>T (p.Thr1022=) c.3996C>T (p.Thr1332=) c.3975C>T (p.Thr1325=) c.3891C>T (p.Thr1297=) c.3867C>T (p.Thr1289=) c.3855C>T (p.Thr1285=) c.3834C>T (p.Thr1278=) n.4234C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402231G>C | CA456356266 | ABCB4 | c.3705C>G (p.Thr1235=) c.3726C>G (p.Thr1242=) c.3564C>G (p.Thr1188=) c.139C>G n.317C>G c.3621C>G (p.Thr1207=) c.3597C>G (p.Thr1199=) c.3585C>G (p.Thr1195=) c.3747C>G (p.Thr1249=) c.3066C>G (p.Thr1022=) c.3996C>G (p.Thr1332=) c.3975C>G (p.Thr1325=) c.3891C>G (p.Thr1297=) c.3867C>G (p.Thr1289=) c.3855C>G (p.Thr1285=) c.3834C>G (p.Thr1278=) n.4234C>G | |
7 | g.87402231G= | CA1723587149 | ABCB4 | c.3705C= (p.Thr1235=) c.3726C= (p.Thr1242=) c.3564C= (p.Thr1188=) c.139C= n.317C= c.3621C= (p.Thr1207=) c.3597C= (p.Thr1199=) c.3585C= (p.Thr1195=) c.3747C= (p.Thr1249=) c.3066C= (p.Thr1022=) c.3996C= (p.Thr1332=) c.3975C= (p.Thr1325=) c.3891C= (p.Thr1297=) c.3867C= (p.Thr1289=) c.3855C= (p.Thr1285=) c.3834C= (p.Thr1278=) n.4234C= | |
7 | g.87402231G>T | CA456356267 | ABCB4 | c.3705C>A (p.Thr1235=) c.3726C>A (p.Thr1242=) c.3564C>A (p.Thr1188=) c.139C>A n.317C>A c.3621C>A (p.Thr1207=) c.3597C>A (p.Thr1199=) c.3585C>A (p.Thr1195=) c.3747C>A (p.Thr1249=) c.3066C>A (p.Thr1022=) c.3996C>A (p.Thr1332=) c.3975C>A (p.Thr1325=) c.3891C>A (p.Thr1297=) c.3867C>A (p.Thr1289=) c.3855C>A (p.Thr1285=) c.3834C>A (p.Thr1278=) n.4234C>A | gnomAD v4 |
7 | g.87402232G>A | CA368056884 | ABCB4 | c.3704C>T (p.Thr1235Ile) c.3725C>T (p.Thr1242Ile) c.3563C>T (p.Thr1188Ile) c.138C>T n.316C>T c.3620C>T (p.Thr1207Ile) c.3596C>T (p.Thr1199Ile) c.3584C>T (p.Thr1195Ile) c.3746C>T (p.Thr1249Ile) c.3065C>T (p.Thr1022Ile) c.3995C>T (p.Thr1332Ile) c.3974C>T (p.Thr1325Ile) c.3890C>T (p.Thr1297Ile) c.3866C>T (p.Thr1289Ile) c.3854C>T (p.Thr1285Ile) c.3833C>T (p.Thr1278Ile) n.4233C>T | |
7 | g.87402232G>C | CA368056882 | ABCB4 | c.3704C>G (p.Thr1235Ser) c.3725C>G (p.Thr1242Ser) c.3563C>G (p.Thr1188Ser) c.138C>G n.316C>G c.3620C>G (p.Thr1207Ser) c.3596C>G (p.Thr1199Ser) c.3584C>G (p.Thr1195Ser) c.3746C>G (p.Thr1249Ser) c.3065C>G (p.Thr1022Ser) c.3995C>G (p.Thr1332Ser) c.3974C>G (p.Thr1325Ser) c.3890C>G (p.Thr1297Ser) c.3866C>G (p.Thr1289Ser) c.3854C>G (p.Thr1285Ser) c.3833C>G (p.Thr1278Ser) n.4233C>G | |
7 | g.87402232G>T | CA368056883 | ABCB4 | c.3704C>A (p.Thr1235Asn) c.3725C>A (p.Thr1242Asn) c.3563C>A (p.Thr1188Asn) c.138C>A n.316C>A c.3620C>A (p.Thr1207Asn) c.3596C>A (p.Thr1199Asn) c.3584C>A (p.Thr1195Asn) c.3746C>A (p.Thr1249Asn) c.3065C>A (p.Thr1022Asn) c.3995C>A (p.Thr1332Asn) c.3974C>A (p.Thr1325Asn) c.3890C>A (p.Thr1297Asn) c.3866C>A (p.Thr1289Asn) c.3854C>A (p.Thr1285Asn) c.3833C>A (p.Thr1278Asn) n.4233C>A | |
7 | g.87402233T>A | CA368056886 | ABCB4 | c.3703A>T (p.Thr1235Ser) c.3724A>T (p.Thr1242Ser) c.3562A>T (p.Thr1188Ser) c.137A>T n.315A>T c.3619A>T (p.Thr1207Ser) c.3595A>T (p.Thr1199Ser) c.3583A>T (p.Thr1195Ser) c.3745A>T (p.Thr1249Ser) c.3064A>T (p.Thr1022Ser) c.3994A>T (p.Thr1332Ser) c.3973A>T (p.Thr1325Ser) c.3889A>T (p.Thr1297Ser) c.3865A>T (p.Thr1289Ser) c.3853A>T (p.Thr1285Ser) c.3832A>T (p.Thr1278Ser) n.4232A>T | COSMIC COSMIC |
7 | g.87402233T>C | CA368056888 | ABCB4 | c.3703A>G (p.Thr1235Ala) c.3724A>G (p.Thr1242Ala) c.3562A>G (p.Thr1188Ala) c.137A>G n.315A>G c.3619A>G (p.Thr1207Ala) c.3595A>G (p.Thr1199Ala) c.3583A>G (p.Thr1195Ala) c.3745A>G (p.Thr1249Ala) c.3064A>G (p.Thr1022Ala) c.3994A>G (p.Thr1332Ala) c.3973A>G (p.Thr1325Ala) c.3889A>G (p.Thr1297Ala) c.3865A>G (p.Thr1289Ala) c.3853A>G (p.Thr1285Ala) c.3832A>G (p.Thr1278Ala) n.4232A>G | |
7 | g.87402233T>G | CA368056890 | ABCB4 | c.3703A>C (p.Thr1235Pro) c.3724A>C (p.Thr1242Pro) c.3562A>C (p.Thr1188Pro) c.137A>C n.315A>C c.3619A>C (p.Thr1207Pro) c.3595A>C (p.Thr1199Pro) c.3583A>C (p.Thr1195Pro) c.3745A>C (p.Thr1249Pro) c.3064A>C (p.Thr1022Pro) c.3994A>C (p.Thr1332Pro) c.3973A>C (p.Thr1325Pro) c.3889A>C (p.Thr1297Pro) c.3865A>C (p.Thr1289Pro) c.3853A>C (p.Thr1285Pro) c.3832A>C (p.Thr1278Pro) n.4232A>C | |
7 | g.87402234G>A | CA456356269 | ABCB4 | c.3702C>T (p.Ser1234=) c.3723C>T (p.Ser1241=) c.3561C>T (p.Ser1187=) c.136C>T n.314C>T c.3618C>T (p.Ser1206=) c.3594C>T (p.Ser1198=) c.3582C>T (p.Ser1194=) c.3744C>T (p.Ser1248=) c.3063C>T (p.Ser1021=) c.3993C>T (p.Ser1331=) c.3972C>T (p.Ser1324=) c.3888C>T (p.Ser1296=) c.3864C>T (p.Ser1288=) c.3852C>T (p.Ser1284=) c.3831C>T (p.Ser1277=) n.4231C>T | |
7 | g.87402234G>C | CA456356270 | ABCB4 | c.3702C>G (p.Ser1234=) c.3723C>G (p.Ser1241=) c.3561C>G (p.Ser1187=) c.136C>G n.314C>G c.3618C>G (p.Ser1206=) c.3594C>G (p.Ser1198=) c.3582C>G (p.Ser1194=) c.3744C>G (p.Ser1248=) c.3063C>G (p.Ser1021=) c.3993C>G (p.Ser1331=) c.3972C>G (p.Ser1324=) c.3888C>G (p.Ser1296=) c.3864C>G (p.Ser1288=) c.3852C>G (p.Ser1284=) c.3831C>G (p.Ser1277=) n.4231C>G | |
7 | g.87402234G>T | CA456356271 | ABCB4 | c.3702C>A (p.Ser1234=) c.3723C>A (p.Ser1241=) c.3561C>A (p.Ser1187=) c.136C>A n.314C>A c.3618C>A (p.Ser1206=) c.3594C>A (p.Ser1198=) c.3582C>A (p.Ser1194=) c.3744C>A (p.Ser1248=) c.3063C>A (p.Ser1021=) c.3993C>A (p.Ser1331=) c.3972C>A (p.Ser1324=) c.3888C>A (p.Ser1296=) c.3864C>A (p.Ser1288=) c.3852C>A (p.Ser1284=) c.3831C>A (p.Ser1277=) n.4231C>A | COSMIC COSMIC |
7 | g.87402235G>A | CA368056892 | ABCB4 | c.3701C>T (p.Ser1234Phe) c.3722C>T (p.Ser1241Phe) c.3560C>T (p.Ser1187Phe) c.135C>T n.313C>T c.3617C>T (p.Ser1206Phe) c.3593C>T (p.Ser1198Phe) c.3581C>T (p.Ser1194Phe) c.3743C>T (p.Ser1248Phe) c.3062C>T (p.Ser1021Phe) c.3992C>T (p.Ser1331Phe) c.3971C>T (p.Ser1324Phe) c.3887C>T (p.Ser1296Phe) c.3863C>T (p.Ser1288Phe) c.3851C>T (p.Ser1284Phe) c.3830C>T (p.Ser1277Phe) n.4230C>T | |
7 | g.87402235G>C | CA368056894 | ABCB4 | c.3701C>G (p.Ser1234Cys) c.3722C>G (p.Ser1241Cys) c.3560C>G (p.Ser1187Cys) c.135C>G n.313C>G c.3617C>G (p.Ser1206Cys) c.3593C>G (p.Ser1198Cys) c.3581C>G (p.Ser1194Cys) c.3743C>G (p.Ser1248Cys) c.3062C>G (p.Ser1021Cys) c.3992C>G (p.Ser1331Cys) c.3971C>G (p.Ser1324Cys) c.3887C>G (p.Ser1296Cys) c.3863C>G (p.Ser1288Cys) c.3851C>G (p.Ser1284Cys) c.3830C>G (p.Ser1277Cys) n.4230C>G | |
7 | g.87402235G>T | CA368056896 | ABCB4 | c.3701C>A (p.Ser1234Tyr) c.3722C>A (p.Ser1241Tyr) c.3560C>A (p.Ser1187Tyr) c.135C>A n.313C>A c.3617C>A (p.Ser1206Tyr) c.3593C>A (p.Ser1198Tyr) c.3581C>A (p.Ser1194Tyr) c.3743C>A (p.Ser1248Tyr) c.3062C>A (p.Ser1021Tyr) c.3992C>A (p.Ser1331Tyr) c.3971C>A (p.Ser1324Tyr) c.3887C>A (p.Ser1296Tyr) c.3863C>A (p.Ser1288Tyr) c.3851C>A (p.Ser1284Tyr) c.3830C>A (p.Ser1277Tyr) n.4230C>A | |
7 | g.87402236_87402239del | CA2683598161 | ABCB4 | c.3698_3701del (p.Leu1233ProfsTer8) c.3719_3722del (p.Leu1240ProfsTer8) c.3557_3560del (p.Leu1186ProfsTer8) c.132_135del n.310_313del c.3614_3617del (p.Leu1205ProfsTer8) c.3590_3593del (p.Leu1197ProfsTer8) c.3578_3581del (p.Leu1193ProfsTer8) c.3740_3743del (p.Leu1247ProfsTer8) c.3059_3062del (p.Leu1020ProfsTer8) c.3989_3992del (p.Leu1330ProfsTer8) c.3968_3971del (p.Leu1323ProfsTer8) c.3884_3887del (p.Leu1295ProfsTer8) c.3860_3863del (p.Leu1287ProfsTer8) c.3848_3851del (p.Leu1283ProfsTer8) c.3827_3830del (p.Leu1276ProfsTer8) n.4227_4230del | gnomAD v4 |
7 | g.87402236A>C | CA368056898 | ABCB4 | c.3700T>G (p.Ser1234Ala) c.3721T>G (p.Ser1241Ala) c.3559T>G (p.Ser1187Ala) c.134T>G n.312T>G c.3616T>G (p.Ser1206Ala) c.3592T>G (p.Ser1198Ala) c.3580T>G (p.Ser1194Ala) c.3742T>G (p.Ser1248Ala) c.3061T>G (p.Ser1021Ala) c.3991T>G (p.Ser1331Ala) c.3970T>G (p.Ser1324Ala) c.3886T>G (p.Ser1296Ala) c.3862T>G (p.Ser1288Ala) c.3850T>G (p.Ser1284Ala) c.3829T>G (p.Ser1277Ala) n.4229T>G | |
7 | g.87402236A>G | CA368056899 | ABCB4 | c.3700T>C (p.Ser1234Pro) c.3721T>C (p.Ser1241Pro) c.3559T>C (p.Ser1187Pro) c.134T>C n.312T>C c.3616T>C (p.Ser1206Pro) c.3592T>C (p.Ser1198Pro) c.3580T>C (p.Ser1194Pro) c.3742T>C (p.Ser1248Pro) c.3061T>C (p.Ser1021Pro) c.3991T>C (p.Ser1331Pro) c.3970T>C (p.Ser1324Pro) c.3886T>C (p.Ser1296Pro) c.3862T>C (p.Ser1288Pro) c.3850T>C (p.Ser1284Pro) c.3829T>C (p.Ser1277Pro) n.4229T>C | |
7 | g.87402236A>T | CA368056902 | ABCB4 | c.3700T>A (p.Ser1234Thr) c.3721T>A (p.Ser1241Thr) c.3559T>A (p.Ser1187Thr) c.134T>A n.312T>A c.3616T>A (p.Ser1206Thr) c.3592T>A (p.Ser1198Thr) c.3580T>A (p.Ser1194Thr) c.3742T>A (p.Ser1248Thr) c.3061T>A (p.Ser1021Thr) c.3991T>A (p.Ser1331Thr) c.3970T>A (p.Ser1324Thr) c.3886T>A (p.Ser1296Thr) c.3862T>A (p.Ser1288Thr) c.3850T>A (p.Ser1284Thr) c.3829T>A (p.Ser1277Thr) n.4229T>A | |
7 | g.87402237C>A | CA456356273 | ABCB4 | c.3699G>T (p.Leu1233=) c.3720G>T (p.Leu1240=) c.3558G>T (p.Leu1186=) c.133G>T n.311G>T c.3615G>T (p.Leu1205=) c.3591G>T (p.Leu1197=) c.3579G>T (p.Leu1193=) c.3741G>T (p.Leu1247=) c.3060G>T (p.Leu1020=) c.3990G>T (p.Leu1330=) c.3969G>T (p.Leu1323=) c.3885G>T (p.Leu1295=) c.3861G>T (p.Leu1287=) c.3849G>T (p.Leu1283=) c.3828G>T (p.Leu1276=) n.4228G>T | |
7 | g.87402237C>G | CA456356274 | ABCB4 | c.3699G>C (p.Leu1233=) c.3720G>C (p.Leu1240=) c.3558G>C (p.Leu1186=) c.133G>C n.311G>C c.3615G>C (p.Leu1205=) c.3591G>C (p.Leu1197=) c.3579G>C (p.Leu1193=) c.3741G>C (p.Leu1247=) c.3060G>C (p.Leu1020=) c.3990G>C (p.Leu1330=) c.3969G>C (p.Leu1323=) c.3885G>C (p.Leu1295=) c.3861G>C (p.Leu1287=) c.3849G>C (p.Leu1283=) c.3828G>C (p.Leu1276=) n.4228G>C | |
7 | g.87402237C>T | CA456356275 | ABCB4 | c.3699G>A (p.Leu1233=) c.3720G>A (p.Leu1240=) c.3558G>A (p.Leu1186=) c.133G>A n.311G>A c.3615G>A (p.Leu1205=) c.3591G>A (p.Leu1197=) c.3579G>A (p.Leu1193=) c.3741G>A (p.Leu1247=) c.3060G>A (p.Leu1020=) c.3990G>A (p.Leu1330=) c.3969G>A (p.Leu1323=) c.3885G>A (p.Leu1295=) c.3861G>A (p.Leu1287=) c.3849G>A (p.Leu1283=) c.3828G>A (p.Leu1276=) n.4228G>A | |
7 | g.87402238A>C | CA368056907 | ABCB4 | c.3698T>G (p.Leu1233Arg) c.3719T>G (p.Leu1240Arg) c.3557T>G (p.Leu1186Arg) c.132T>G n.310T>G c.3614T>G (p.Leu1205Arg) c.3590T>G (p.Leu1197Arg) c.3578T>G (p.Leu1193Arg) c.3740T>G (p.Leu1247Arg) c.3059T>G (p.Leu1020Arg) c.3989T>G (p.Leu1330Arg) c.3968T>G (p.Leu1323Arg) c.3884T>G (p.Leu1295Arg) c.3860T>G (p.Leu1287Arg) c.3848T>G (p.Leu1283Arg) c.3827T>G (p.Leu1276Arg) n.4227T>G | |
7 | g.87402238A>G | CA368056904 | ABCB4 | c.3698T>C (p.Leu1233Pro) c.3719T>C (p.Leu1240Pro) c.3557T>C (p.Leu1186Pro) c.132T>C n.310T>C c.3614T>C (p.Leu1205Pro) c.3590T>C (p.Leu1197Pro) c.3578T>C (p.Leu1193Pro) c.3740T>C (p.Leu1247Pro) c.3059T>C (p.Leu1020Pro) c.3989T>C (p.Leu1330Pro) c.3968T>C (p.Leu1323Pro) c.3884T>C (p.Leu1295Pro) c.3860T>C (p.Leu1287Pro) c.3848T>C (p.Leu1283Pro) c.3827T>C (p.Leu1276Pro) n.4227T>C | |
7 | g.87402238A>T | CA368056906 | ABCB4 | c.3698T>A (p.Leu1233Gln) c.3719T>A (p.Leu1240Gln) c.3557T>A (p.Leu1186Gln) c.132T>A n.310T>A c.3614T>A (p.Leu1205Gln) c.3590T>A (p.Leu1197Gln) c.3578T>A (p.Leu1193Gln) c.3740T>A (p.Leu1247Gln) c.3059T>A (p.Leu1020Gln) c.3989T>A (p.Leu1330Gln) c.3968T>A (p.Leu1323Gln) c.3884T>A (p.Leu1295Gln) c.3860T>A (p.Leu1287Gln) c.3848T>A (p.Leu1283Gln) c.3827T>A (p.Leu1276Gln) n.4227T>A | |
7 | g.87402239G>A | CA456356276 | ABCB4 | c.3697C>T (p.Leu1233=) c.3718C>T (p.Leu1240=) c.3556C>T (p.Leu1186=) c.131C>T n.309C>T c.3613C>T (p.Leu1205=) c.3589C>T (p.Leu1197=) c.3577C>T (p.Leu1193=) c.3739C>T (p.Leu1247=) c.3058C>T (p.Leu1020=) c.3988C>T (p.Leu1330=) c.3967C>T (p.Leu1323=) c.3883C>T (p.Leu1295=) c.3859C>T (p.Leu1287=) c.3847C>T (p.Leu1283=) c.3826C>T (p.Leu1276=) n.4226C>T | |
7 | g.87402239G>C | CA368056909 | ABCB4 | c.3697C>G (p.Leu1233Val) c.3718C>G (p.Leu1240Val) c.3556C>G (p.Leu1186Val) c.131C>G n.309C>G c.3613C>G (p.Leu1205Val) c.3589C>G (p.Leu1197Val) c.3577C>G (p.Leu1193Val) c.3739C>G (p.Leu1247Val) c.3058C>G (p.Leu1020Val) c.3988C>G (p.Leu1330Val) c.3967C>G (p.Leu1323Val) c.3883C>G (p.Leu1295Val) c.3859C>G (p.Leu1287Val) c.3847C>G (p.Leu1283Val) c.3826C>G (p.Leu1276Val) n.4226C>G | |
7 | g.87402239G>T | CA368056911 | ABCB4 | c.3697C>A (p.Leu1233Met) c.3718C>A (p.Leu1240Met) c.3556C>A (p.Leu1186Met) c.131C>A n.309C>A c.3613C>A (p.Leu1205Met) c.3589C>A (p.Leu1197Met) c.3577C>A (p.Leu1193Met) c.3739C>A (p.Leu1247Met) c.3058C>A (p.Leu1020Met) c.3988C>A (p.Leu1330Met) c.3967C>A (p.Leu1323Met) c.3883C>A (p.Leu1295Met) c.3859C>A (p.Leu1287Met) c.3847C>A (p.Leu1283Met) c.3826C>A (p.Leu1276Met) n.4226C>A | |
7 | g.87402240G>A | CA4326706 | ABCB4 | c.3696C>T (p.Arg1232=) c.3717C>T (p.Arg1239=) c.3555C>T (p.Arg1185=) c.130C>T n.308C>T c.3612C>T (p.Arg1204=) c.3588C>T (p.Arg1196=) c.3576C>T (p.Arg1192=) c.3738C>T (p.Arg1246=) c.3057C>T (p.Arg1019=) c.3987C>T (p.Arg1329=) c.3966C>T (p.Arg1322=) c.3882C>T (p.Arg1294=) c.3858C>T (p.Arg1286=) c.3846C>T (p.Arg1282=) c.3825C>T (p.Arg1275=) n.4225C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87402240G>C | CA456356277 | ABCB4 | c.3696C>G (p.Arg1232=) c.3717C>G (p.Arg1239=) c.3555C>G (p.Arg1185=) c.130C>G n.308C>G c.3612C>G (p.Arg1204=) c.3588C>G (p.Arg1196=) c.3576C>G (p.Arg1192=) c.3738C>G (p.Arg1246=) c.3057C>G (p.Arg1019=) c.3987C>G (p.Arg1329=) c.3966C>G (p.Arg1322=) c.3882C>G (p.Arg1294=) c.3858C>G (p.Arg1286=) c.3846C>G (p.Arg1282=) c.3825C>G (p.Arg1275=) n.4225C>G | |
7 | g.87402240G= | CA1723587152 | ABCB4 | c.3696C= (p.Arg1232=) c.3717C= (p.Arg1239=) c.3555C= (p.Arg1185=) c.130C= n.308C= c.3612C= (p.Arg1204=) c.3588C= (p.Arg1196=) c.3576C= (p.Arg1192=) c.3738C= (p.Arg1246=) c.3057C= (p.Arg1019=) c.3987C= (p.Arg1329=) c.3966C= (p.Arg1322=) c.3882C= (p.Arg1294=) c.3858C= (p.Arg1286=) c.3846C= (p.Arg1282=) c.3825C= (p.Arg1275=) n.4225C= | |
7 | g.87402240G>T | CA456356278 | ABCB4 | c.3696C>A (p.Arg1232=) c.3717C>A (p.Arg1239=) c.3555C>A (p.Arg1185=) c.130C>A n.308C>A c.3612C>A (p.Arg1204=) c.3588C>A (p.Arg1196=) c.3576C>A (p.Arg1192=) c.3738C>A (p.Arg1246=) c.3057C>A (p.Arg1019=) c.3987C>A (p.Arg1329=) c.3966C>A (p.Arg1322=) c.3882C>A (p.Arg1294=) c.3858C>A (p.Arg1286=) c.3846C>A (p.Arg1282=) c.3825C>A (p.Arg1275=) n.4225C>A | gnomAD v4 |
7 | g.87402241C>A | CA368056914 | ABCB4 | c.3695G>T (p.Arg1232Leu) c.3716G>T (p.Arg1239Leu) c.3554G>T (p.Arg1185Leu) c.129G>T n.307G>T c.3611G>T (p.Arg1204Leu) c.3587G>T (p.Arg1196Leu) c.3575G>T (p.Arg1192Leu) c.3737G>T (p.Arg1246Leu) c.3056G>T (p.Arg1019Leu) c.3986G>T (p.Arg1329Leu) c.3965G>T (p.Arg1322Leu) c.3881G>T (p.Arg1294Leu) c.3857G>T (p.Arg1286Leu) c.3845G>T (p.Arg1282Leu) c.3824G>T (p.Arg1275Leu) n.4224G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402241C= | CA1723587158 | ABCB4 | c.3695G= (p.Arg1232=) c.3716G= (p.Arg1239=) c.3554G= (p.Arg1185=) c.129G= n.307G= c.3611G= (p.Arg1204=) c.3587G= (p.Arg1196=) c.3575G= (p.Arg1192=) c.3737G= (p.Arg1246=) c.3056G= (p.Arg1019=) c.3986G= (p.Arg1329=) c.3965G= (p.Arg1322=) c.3881G= (p.Arg1294=) c.3857G= (p.Arg1286=) c.3845G= (p.Arg1282=) c.3824G= (p.Arg1275=) n.4224G= | |
7 | g.87402241C>G | CA368056917 | ABCB4 | c.3695G>C (p.Arg1232Pro) c.3716G>C (p.Arg1239Pro) c.3554G>C (p.Arg1185Pro) c.129G>C n.307G>C c.3611G>C (p.Arg1204Pro) c.3587G>C (p.Arg1196Pro) c.3575G>C (p.Arg1192Pro) c.3737G>C (p.Arg1246Pro) c.3056G>C (p.Arg1019Pro) c.3986G>C (p.Arg1329Pro) c.3965G>C (p.Arg1322Pro) c.3881G>C (p.Arg1294Pro) c.3857G>C (p.Arg1286Pro) c.3845G>C (p.Arg1282Pro) c.3824G>C (p.Arg1275Pro) n.4224G>C | |
7 | g.87402241C>T | CA368056918 | ABCB4 | c.3695G>A (p.Arg1232His) c.3716G>A (p.Arg1239His) c.3554G>A (p.Arg1185His) c.129G>A n.307G>A c.3611G>A (p.Arg1204His) c.3587G>A (p.Arg1196His) c.3575G>A (p.Arg1192His) c.3737G>A (p.Arg1246His) c.3056G>A (p.Arg1019His) c.3986G>A (p.Arg1329His) c.3965G>A (p.Arg1322His) c.3881G>A (p.Arg1294His) c.3857G>A (p.Arg1286His) c.3845G>A (p.Arg1282His) c.3824G>A (p.Arg1275His) n.4224G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402242G>A | CA4326707 | ABCB4 | c.3694C>T (p.Arg1232Cys) c.3715C>T (p.Arg1239Cys) c.3553C>T (p.Arg1185Cys) c.128C>T n.306C>T c.3610C>T (p.Arg1204Cys) c.3586C>T (p.Arg1196Cys) c.3574C>T (p.Arg1192Cys) c.3736C>T (p.Arg1246Cys) c.3055C>T (p.Arg1019Cys) c.3985C>T (p.Arg1329Cys) c.3964C>T (p.Arg1322Cys) c.3880C>T (p.Arg1294Cys) c.3856C>T (p.Arg1286Cys) c.3844C>T (p.Arg1282Cys) c.3823C>T (p.Arg1275Cys) n.4223C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402242G>C | CA368056922 | ABCB4 | c.3694C>G (p.Arg1232Gly) c.3715C>G (p.Arg1239Gly) c.3553C>G (p.Arg1185Gly) c.128C>G n.306C>G c.3610C>G (p.Arg1204Gly) c.3586C>G (p.Arg1196Gly) c.3574C>G (p.Arg1192Gly) c.3736C>G (p.Arg1246Gly) c.3055C>G (p.Arg1019Gly) c.3985C>G (p.Arg1329Gly) c.3964C>G (p.Arg1322Gly) c.3880C>G (p.Arg1294Gly) c.3856C>G (p.Arg1286Gly) c.3844C>G (p.Arg1282Gly) c.3823C>G (p.Arg1275Gly) n.4223C>G | |
7 | g.87402242G= | CA1723587162 | ABCB4 | c.3694C= (p.Arg1232=) c.3715C= (p.Arg1239=) c.3553C= (p.Arg1185=) c.128C= n.306C= c.3610C= (p.Arg1204=) c.3586C= (p.Arg1196=) c.3574C= (p.Arg1192=) c.3736C= (p.Arg1246=) c.3055C= (p.Arg1019=) c.3985C= (p.Arg1329=) c.3964C= (p.Arg1322=) c.3880C= (p.Arg1294=) c.3856C= (p.Arg1286=) c.3844C= (p.Arg1282=) c.3823C= (p.Arg1275=) n.4223C= | |
7 | g.87402242G>T | CA368056923 | ABCB4 | c.3694C>A (p.Arg1232Ser) c.3715C>A (p.Arg1239Ser) c.3553C>A (p.Arg1185Ser) c.128C>A n.306C>A c.3610C>A (p.Arg1204Ser) c.3586C>A (p.Arg1196Ser) c.3574C>A (p.Arg1192Ser) c.3736C>A (p.Arg1246Ser) c.3055C>A (p.Arg1019Ser) c.3985C>A (p.Arg1329Ser) c.3964C>A (p.Arg1322Ser) c.3880C>A (p.Arg1294Ser) c.3856C>A (p.Arg1286Ser) c.3844C>A (p.Arg1282Ser) c.3823C>A (p.Arg1275Ser) n.4223C>A | |
7 | g.87402243G>A | CA456356280 | ABCB4 | c.3693C>T (p.His1231=) c.3714C>T (p.His1238=) c.3552C>T (p.His1184=) c.127C>T n.305C>T c.3609C>T (p.His1203=) c.3585C>T (p.His1195=) c.3573C>T (p.His1191=) c.3735C>T (p.His1245=) c.3054C>T (p.His1018=) c.3984C>T (p.His1328=) c.3963C>T (p.His1321=) c.3879C>T (p.His1293=) c.3855C>T (p.His1285=) c.3843C>T (p.His1281=) c.3822C>T (p.His1274=) n.4222C>T | |
7 | g.87402243G>C | CA368056926 | ABCB4 | c.3693C>G (p.His1231Gln) c.3714C>G (p.His1238Gln) c.3552C>G (p.His1184Gln) c.127C>G n.305C>G c.3609C>G (p.His1203Gln) c.3585C>G (p.His1195Gln) c.3573C>G (p.His1191Gln) c.3735C>G (p.His1245Gln) c.3054C>G (p.His1018Gln) c.3984C>G (p.His1328Gln) c.3963C>G (p.His1321Gln) c.3879C>G (p.His1293Gln) c.3855C>G (p.His1285Gln) c.3843C>G (p.His1281Gln) c.3822C>G (p.His1274Gln) n.4222C>G | |
7 | g.87402243G>T | CA368056927 | ABCB4 | c.3693C>A (p.His1231Gln) c.3714C>A (p.His1238Gln) c.3552C>A (p.His1184Gln) c.127C>A n.305C>A c.3609C>A (p.His1203Gln) c.3585C>A (p.His1195Gln) c.3573C>A (p.His1191Gln) c.3735C>A (p.His1245Gln) c.3054C>A (p.His1018Gln) c.3984C>A (p.His1328Gln) c.3963C>A (p.His1321Gln) c.3879C>A (p.His1293Gln) c.3855C>A (p.His1285Gln) c.3843C>A (p.His1281Gln) c.3822C>A (p.His1274Gln) n.4222C>A | |
7 | g.87402244T>A | CA368056931 | ABCB4 | c.3692A>T (p.His1231Leu) c.3713A>T (p.His1238Leu) c.3551A>T (p.His1184Leu) c.126A>T n.304A>T c.3608A>T (p.His1203Leu) c.3584A>T (p.His1195Leu) c.3572A>T (p.His1191Leu) c.3734A>T (p.His1245Leu) c.3053A>T (p.His1018Leu) c.3983A>T (p.His1328Leu) c.3962A>T (p.His1321Leu) c.3878A>T (p.His1293Leu) c.3854A>T (p.His1285Leu) c.3842A>T (p.His1281Leu) c.3821A>T (p.His1274Leu) n.4221A>T | |
7 | g.87402244T>C | CA368056933 | ABCB4 | c.3692A>G (p.His1231Arg) c.3713A>G (p.His1238Arg) c.3551A>G (p.His1184Arg) c.126A>G n.304A>G c.3608A>G (p.His1203Arg) c.3584A>G (p.His1195Arg) c.3572A>G (p.His1191Arg) c.3734A>G (p.His1245Arg) c.3053A>G (p.His1018Arg) c.3983A>G (p.His1328Arg) c.3962A>G (p.His1321Arg) c.3878A>G (p.His1293Arg) c.3854A>G (p.His1285Arg) c.3842A>G (p.His1281Arg) c.3821A>G (p.His1274Arg) n.4221A>G | ClinVar dbSNP |
7 | g.87402244T>G | CA368056929 | ABCB4 | c.3692A>C (p.His1231Pro) c.3713A>C (p.His1238Pro) c.3551A>C (p.His1184Pro) c.126A>C n.304A>C c.3608A>C (p.His1203Pro) c.3584A>C (p.His1195Pro) c.3572A>C (p.His1191Pro) c.3734A>C (p.His1245Pro) c.3053A>C (p.His1018Pro) c.3983A>C (p.His1328Pro) c.3962A>C (p.His1321Pro) c.3878A>C (p.His1293Pro) c.3854A>C (p.His1285Pro) c.3842A>C (p.His1281Pro) c.3821A>C (p.His1274Pro) n.4221A>C | |
7 | g.87402245G>A | CA368056935 | ABCB4 | c.3691C>T (p.His1231Tyr) c.3712C>T (p.His1238Tyr) c.3550C>T (p.His1184Tyr) c.125C>T n.303C>T c.3607C>T (p.His1203Tyr) c.3583C>T (p.His1195Tyr) c.3571C>T (p.His1191Tyr) c.3733C>T (p.His1245Tyr) c.3052C>T (p.His1018Tyr) c.3982C>T (p.His1328Tyr) c.3961C>T (p.His1321Tyr) c.3877C>T (p.His1293Tyr) c.3853C>T (p.His1285Tyr) c.3841C>T (p.His1281Tyr) c.3820C>T (p.His1274Tyr) n.4220C>T | |
7 | g.87402245G>C | CA368056937 | ABCB4 | c.3691C>G (p.His1231Asp) c.3712C>G (p.His1238Asp) c.3550C>G (p.His1184Asp) c.125C>G n.303C>G c.3607C>G (p.His1203Asp) c.3583C>G (p.His1195Asp) c.3571C>G (p.His1191Asp) c.3733C>G (p.His1245Asp) c.3052C>G (p.His1018Asp) c.3982C>G (p.His1328Asp) c.3961C>G (p.His1321Asp) c.3877C>G (p.His1293Asp) c.3853C>G (p.His1285Asp) c.3841C>G (p.His1281Asp) c.3820C>G (p.His1274Asp) n.4220C>G | |
7 | g.87402245G>T | CA368056939 | ABCB4 | c.3691C>A (p.His1231Asn) c.3712C>A (p.His1238Asn) c.3550C>A (p.His1184Asn) c.125C>A n.303C>A c.3607C>A (p.His1203Asn) c.3583C>A (p.His1195Asn) c.3571C>A (p.His1191Asn) c.3733C>A (p.His1245Asn) c.3052C>A (p.His1018Asn) c.3982C>A (p.His1328Asn) c.3961C>A (p.His1321Asn) c.3877C>A (p.His1293Asn) c.3853C>A (p.His1285Asn) c.3841C>A (p.His1281Asn) c.3820C>A (p.His1274Asn) n.4220C>A | |
7 | g.87402246A>C | CA456356284 | ABCB4 | c.3690T>G (p.Ala1230=) c.3711T>G (p.Ala1237=) c.3549T>G (p.Ala1183=) c.124T>G n.302T>G c.3606T>G (p.Ala1202=) c.3582T>G (p.Ala1194=) c.3570T>G (p.Ala1190=) c.3732T>G (p.Ala1244=) c.3051T>G (p.Ala1017=) c.3981T>G (p.Ala1327=) c.3960T>G (p.Ala1320=) c.3876T>G (p.Ala1292=) c.3852T>G (p.Ala1284=) c.3840T>G (p.Ala1280=) c.3819T>G (p.Ala1273=) n.4219T>G | |
7 | g.87402246A>G | CA456356283 | ABCB4 | c.3690T>C (p.Ala1230=) c.3711T>C (p.Ala1237=) c.3549T>C (p.Ala1183=) c.124T>C n.302T>C c.3606T>C (p.Ala1202=) c.3582T>C (p.Ala1194=) c.3570T>C (p.Ala1190=) c.3732T>C (p.Ala1244=) c.3051T>C (p.Ala1017=) c.3981T>C (p.Ala1327=) c.3960T>C (p.Ala1320=) c.3876T>C (p.Ala1292=) c.3852T>C (p.Ala1284=) c.3840T>C (p.Ala1280=) c.3819T>C (p.Ala1273=) n.4219T>C | |
7 | g.87402246A>T | CA456356282 | ABCB4 | c.3690T>A (p.Ala1230=) c.3711T>A (p.Ala1237=) c.3549T>A (p.Ala1183=) c.124T>A n.302T>A c.3606T>A (p.Ala1202=) c.3582T>A (p.Ala1194=) c.3570T>A (p.Ala1190=) c.3732T>A (p.Ala1244=) c.3051T>A (p.Ala1017=) c.3981T>A (p.Ala1327=) c.3960T>A (p.Ala1320=) c.3876T>A (p.Ala1292=) c.3852T>A (p.Ala1284=) c.3840T>A (p.Ala1280=) c.3819T>A (p.Ala1273=) n.4219T>A | |
7 | g.87402247G>A | CA368056941 | ABCB4 | c.3689C>T (p.Ala1230Val) c.3710C>T (p.Ala1237Val) c.3548C>T (p.Ala1183Val) c.123C>T n.301C>T c.3605C>T (p.Ala1202Val) c.3581C>T (p.Ala1194Val) c.3569C>T (p.Ala1190Val) c.3731C>T (p.Ala1244Val) c.3050C>T (p.Ala1017Val) c.3980C>T (p.Ala1327Val) c.3959C>T (p.Ala1320Val) c.3875C>T (p.Ala1292Val) c.3851C>T (p.Ala1284Val) c.3839C>T (p.Ala1280Val) c.3818C>T (p.Ala1273Val) n.4218C>T | |
7 | g.87402247G>C | CA368056943 | ABCB4 | c.3689C>G (p.Ala1230Gly) c.3710C>G (p.Ala1237Gly) c.3548C>G (p.Ala1183Gly) c.123C>G n.301C>G c.3605C>G (p.Ala1202Gly) c.3581C>G (p.Ala1194Gly) c.3569C>G (p.Ala1190Gly) c.3731C>G (p.Ala1244Gly) c.3050C>G (p.Ala1017Gly) c.3980C>G (p.Ala1327Gly) c.3959C>G (p.Ala1320Gly) c.3875C>G (p.Ala1292Gly) c.3851C>G (p.Ala1284Gly) c.3839C>G (p.Ala1280Gly) c.3818C>G (p.Ala1273Gly) n.4218C>G | |
7 | g.87402247G>T | CA368056944 | ABCB4 | c.3689C>A (p.Ala1230Asp) c.3710C>A (p.Ala1237Asp) c.3548C>A (p.Ala1183Asp) c.123C>A n.301C>A c.3605C>A (p.Ala1202Asp) c.3581C>A (p.Ala1194Asp) c.3569C>A (p.Ala1190Asp) c.3731C>A (p.Ala1244Asp) c.3050C>A (p.Ala1017Asp) c.3980C>A (p.Ala1327Asp) c.3959C>A (p.Ala1320Asp) c.3875C>A (p.Ala1292Asp) c.3851C>A (p.Ala1284Asp) c.3839C>A (p.Ala1280Asp) c.3818C>A (p.Ala1273Asp) n.4218C>A | |
7 | g.87402248C>A | CA368056947 | ABCB4 | c.3688G>T (p.Ala1230Ser) c.3709G>T (p.Ala1237Ser) c.3547G>T (p.Ala1183Ser) c.122G>T n.300G>T c.3604G>T (p.Ala1202Ser) c.3580G>T (p.Ala1194Ser) c.3568G>T (p.Ala1190Ser) c.3730G>T (p.Ala1244Ser) c.3049G>T (p.Ala1017Ser) c.3979G>T (p.Ala1327Ser) c.3958G>T (p.Ala1320Ser) c.3874G>T (p.Ala1292Ser) c.3850G>T (p.Ala1284Ser) c.3838G>T (p.Ala1280Ser) c.3817G>T (p.Ala1273Ser) n.4217G>T | |
7 | g.87402248C>G | CA368056948 | ABCB4 | c.3688G>C (p.Ala1230Pro) c.3709G>C (p.Ala1237Pro) c.3547G>C (p.Ala1183Pro) c.122G>C n.300G>C c.3604G>C (p.Ala1202Pro) c.3580G>C (p.Ala1194Pro) c.3568G>C (p.Ala1190Pro) c.3730G>C (p.Ala1244Pro) c.3049G>C (p.Ala1017Pro) c.3979G>C (p.Ala1327Pro) c.3958G>C (p.Ala1320Pro) c.3874G>C (p.Ala1292Pro) c.3850G>C (p.Ala1284Pro) c.3838G>C (p.Ala1280Pro) c.3817G>C (p.Ala1273Pro) n.4217G>C | |
7 | g.87402248C>T | CA368056950 | ABCB4 | c.3688G>A (p.Ala1230Thr) c.3709G>A (p.Ala1237Thr) c.3547G>A (p.Ala1183Thr) c.122G>A n.300G>A c.3604G>A (p.Ala1202Thr) c.3580G>A (p.Ala1194Thr) c.3568G>A (p.Ala1190Thr) c.3730G>A (p.Ala1244Thr) c.3049G>A (p.Ala1017Thr) c.3979G>A (p.Ala1327Thr) c.3958G>A (p.Ala1320Thr) c.3874G>A (p.Ala1292Thr) c.3850G>A (p.Ala1284Thr) c.3838G>A (p.Ala1280Thr) c.3817G>A (p.Ala1273Thr) n.4217G>A | gnomAD v4 |
7 | g.87402252_87402257del | CA2695208081 | ABCB4 | c.3683_3688del (p.Val1228_Ile1229del) c.3704_3709del (p.Val1235_Ile1236del) c.3542_3547del (p.Val1181_Ile1182del) c.117_122del n.295_300del c.3599_3604del (p.Val1200_Ile1201del) c.3575_3580del (p.Val1192_Ile1193del) c.3563_3568del (p.Val1188_Ile1189del) c.3725_3730del (p.Val1242_Ile1243del) c.3044_3049del (p.Val1015_Ile1016del) c.3974_3979del (p.Val1325_Ile1326del) c.3953_3958del (p.Val1318_Ile1319del) c.3869_3874del (p.Val1290_Ile1291del) c.3845_3850del (p.Val1282_Ile1283del) c.3833_3838del (p.Val1278_Ile1279del) c.3812_3817del (p.Val1271_Ile1272del) n.4212_4217del | |
7 | g.87402249A>C | CA368056952 | ABCB4 | c.3687T>G (p.Ile1229Met) c.3708T>G (p.Ile1236Met) c.3546T>G (p.Ile1182Met) c.121T>G n.299T>G c.3603T>G (p.Ile1201Met) c.3579T>G (p.Ile1193Met) c.3567T>G (p.Ile1189Met) c.3729T>G (p.Ile1243Met) c.3048T>G (p.Ile1016Met) c.3978T>G (p.Ile1326Met) c.3957T>G (p.Ile1319Met) c.3873T>G (p.Ile1291Met) c.3849T>G (p.Ile1283Met) c.3837T>G (p.Ile1279Met) c.3816T>G (p.Ile1272Met) n.4216T>G | |
7 | g.87402249A>G | CA456356286 | ABCB4 | c.3687T>C (p.Ile1229=) c.3708T>C (p.Ile1236=) c.3546T>C (p.Ile1182=) c.121T>C n.299T>C c.3603T>C (p.Ile1201=) c.3579T>C (p.Ile1193=) c.3567T>C (p.Ile1189=) c.3729T>C (p.Ile1243=) c.3048T>C (p.Ile1016=) c.3978T>C (p.Ile1326=) c.3957T>C (p.Ile1319=) c.3873T>C (p.Ile1291=) c.3849T>C (p.Ile1283=) c.3837T>C (p.Ile1279=) c.3816T>C (p.Ile1272=) n.4216T>C | |
7 | g.87402249A>T | CA456356287 | ABCB4 | c.3687T>A (p.Ile1229=) c.3708T>A (p.Ile1236=) c.3546T>A (p.Ile1182=) c.121T>A n.299T>A c.3603T>A (p.Ile1201=) c.3579T>A (p.Ile1193=) c.3567T>A (p.Ile1189=) c.3729T>A (p.Ile1243=) c.3048T>A (p.Ile1016=) c.3978T>A (p.Ile1326=) c.3957T>A (p.Ile1319=) c.3873T>A (p.Ile1291=) c.3849T>A (p.Ile1283=) c.3837T>A (p.Ile1279=) c.3816T>A (p.Ile1272=) n.4216T>A | |
7 | g.87402250A>C | CA368056955 | ABCB4 | c.3686T>G (p.Ile1229Ser) c.3707T>G (p.Ile1236Ser) c.3545T>G (p.Ile1182Ser) c.120T>G n.298T>G c.3602T>G (p.Ile1201Ser) c.3578T>G (p.Ile1193Ser) c.3566T>G (p.Ile1189Ser) c.3728T>G (p.Ile1243Ser) c.3047T>G (p.Ile1016Ser) c.3977T>G (p.Ile1326Ser) c.3956T>G (p.Ile1319Ser) c.3872T>G (p.Ile1291Ser) c.3848T>G (p.Ile1283Ser) c.3836T>G (p.Ile1279Ser) c.3815T>G (p.Ile1272Ser) n.4215T>G | |
7 | g.87402250A>G | CA368056956 | ABCB4 | c.3686T>C (p.Ile1229Thr) c.3707T>C (p.Ile1236Thr) c.3545T>C (p.Ile1182Thr) c.120T>C n.298T>C c.3602T>C (p.Ile1201Thr) c.3578T>C (p.Ile1193Thr) c.3566T>C (p.Ile1189Thr) c.3728T>C (p.Ile1243Thr) c.3047T>C (p.Ile1016Thr) c.3977T>C (p.Ile1326Thr) c.3956T>C (p.Ile1319Thr) c.3872T>C (p.Ile1291Thr) c.3848T>C (p.Ile1283Thr) c.3836T>C (p.Ile1279Thr) c.3815T>C (p.Ile1272Thr) n.4215T>C | |
7 | g.87402250A>T | CA368056958 | ABCB4 | c.3686T>A (p.Ile1229Asn) c.3707T>A (p.Ile1236Asn) c.3545T>A (p.Ile1182Asn) c.120T>A n.298T>A c.3602T>A (p.Ile1201Asn) c.3578T>A (p.Ile1193Asn) c.3566T>A (p.Ile1189Asn) c.3728T>A (p.Ile1243Asn) c.3047T>A (p.Ile1016Asn) c.3977T>A (p.Ile1326Asn) c.3956T>A (p.Ile1319Asn) c.3872T>A (p.Ile1291Asn) c.3848T>A (p.Ile1283Asn) c.3836T>A (p.Ile1279Asn) c.3815T>A (p.Ile1272Asn) n.4215T>A | |
7 | g.87402251T>A | CA368056964 | ABCB4 | c.3685A>T (p.Ile1229Phe) c.3706A>T (p.Ile1236Phe) c.3544A>T (p.Ile1182Phe) c.119A>T n.297A>T c.3601A>T (p.Ile1201Phe) c.3577A>T (p.Ile1193Phe) c.3565A>T (p.Ile1189Phe) c.3727A>T (p.Ile1243Phe) c.3046A>T (p.Ile1016Phe) c.3976A>T (p.Ile1326Phe) c.3955A>T (p.Ile1319Phe) c.3871A>T (p.Ile1291Phe) c.3847A>T (p.Ile1283Phe) c.3835A>T (p.Ile1279Phe) c.3814A>T (p.Ile1272Phe) n.4214A>T | |
7 | g.87402251T>C | CA368056962 | ABCB4 | c.3685A>G (p.Ile1229Val) c.3706A>G (p.Ile1236Val) c.3544A>G (p.Ile1182Val) c.119A>G n.297A>G c.3601A>G (p.Ile1201Val) c.3577A>G (p.Ile1193Val) c.3565A>G (p.Ile1189Val) c.3727A>G (p.Ile1243Val) c.3046A>G (p.Ile1016Val) c.3976A>G (p.Ile1326Val) c.3955A>G (p.Ile1319Val) c.3871A>G (p.Ile1291Val) c.3847A>G (p.Ile1283Val) c.3835A>G (p.Ile1279Val) c.3814A>G (p.Ile1272Val) n.4214A>G | |
7 | g.87402251T>G | CA368056961 | ABCB4 | c.3685A>C (p.Ile1229Leu) c.3706A>C (p.Ile1236Leu) c.3544A>C (p.Ile1182Leu) c.119A>C n.297A>C c.3601A>C (p.Ile1201Leu) c.3577A>C (p.Ile1193Leu) c.3565A>C (p.Ile1189Leu) c.3727A>C (p.Ile1243Leu) c.3046A>C (p.Ile1016Leu) c.3976A>C (p.Ile1326Leu) c.3955A>C (p.Ile1319Leu) c.3871A>C (p.Ile1291Leu) c.3847A>C (p.Ile1283Leu) c.3835A>C (p.Ile1279Leu) c.3814A>C (p.Ile1272Leu) n.4214A>C | gnomAD v4 |
7 | g.87402252C>A | CA456356290 | ABCB4 | c.3684G>T (p.Val1228=) c.3705G>T (p.Val1235=) c.3543G>T (p.Val1181=) c.118G>T n.296G>T c.3600G>T (p.Val1200=) c.3576G>T (p.Val1192=) c.3564G>T (p.Val1188=) c.3726G>T (p.Val1242=) c.3045G>T (p.Val1015=) c.3975G>T (p.Val1325=) c.3954G>T (p.Val1318=) c.3870G>T (p.Val1290=) c.3846G>T (p.Val1282=) c.3834G>T (p.Val1278=) c.3813G>T (p.Val1271=) n.4213G>T | |
7 | g.87402252C>G | CA456356292 | ABCB4 | c.3684G>C (p.Val1228=) c.3705G>C (p.Val1235=) c.3543G>C (p.Val1181=) c.118G>C n.296G>C c.3600G>C (p.Val1200=) c.3576G>C (p.Val1192=) c.3564G>C (p.Val1188=) c.3726G>C (p.Val1242=) c.3045G>C (p.Val1015=) c.3975G>C (p.Val1325=) c.3954G>C (p.Val1318=) c.3870G>C (p.Val1290=) c.3846G>C (p.Val1282=) c.3834G>C (p.Val1278=) c.3813G>C (p.Val1271=) n.4213G>C | |
7 | g.87402252C>T | CA456356291 | ABCB4 | c.3684G>A (p.Val1228=) c.3705G>A (p.Val1235=) c.3543G>A (p.Val1181=) c.118G>A n.296G>A c.3600G>A (p.Val1200=) c.3576G>A (p.Val1192=) c.3564G>A (p.Val1188=) c.3726G>A (p.Val1242=) c.3045G>A (p.Val1015=) c.3975G>A (p.Val1325=) c.3954G>A (p.Val1318=) c.3870G>A (p.Val1290=) c.3846G>A (p.Val1282=) c.3834G>A (p.Val1278=) c.3813G>A (p.Val1271=) n.4213G>A | |
7 | g.87402253A>C | CA368056967 | ABCB4 | c.3683T>G (p.Val1228Gly) c.3704T>G (p.Val1235Gly) c.3542T>G (p.Val1181Gly) c.117T>G n.295T>G c.3599T>G (p.Val1200Gly) c.3575T>G (p.Val1192Gly) c.3563T>G (p.Val1188Gly) c.3725T>G (p.Val1242Gly) c.3044T>G (p.Val1015Gly) c.3974T>G (p.Val1325Gly) c.3953T>G (p.Val1318Gly) c.3869T>G (p.Val1290Gly) c.3845T>G (p.Val1282Gly) c.3833T>G (p.Val1278Gly) c.3812T>G (p.Val1271Gly) n.4212T>G | |
7 | g.87402253A>G | CA368056968 | ABCB4 | c.3683T>C (p.Val1228Ala) c.3704T>C (p.Val1235Ala) c.3542T>C (p.Val1181Ala) c.117T>C n.295T>C c.3599T>C (p.Val1200Ala) c.3575T>C (p.Val1192Ala) c.3563T>C (p.Val1188Ala) c.3725T>C (p.Val1242Ala) c.3044T>C (p.Val1015Ala) c.3974T>C (p.Val1325Ala) c.3953T>C (p.Val1318Ala) c.3869T>C (p.Val1290Ala) c.3845T>C (p.Val1282Ala) c.3833T>C (p.Val1278Ala) c.3812T>C (p.Val1271Ala) n.4212T>C | |
7 | g.87402253A>T | CA368056970 | ABCB4 | c.3683T>A (p.Val1228Glu) c.3704T>A (p.Val1235Glu) c.3542T>A (p.Val1181Glu) c.117T>A n.295T>A c.3599T>A (p.Val1200Glu) c.3575T>A (p.Val1192Glu) c.3563T>A (p.Val1188Glu) c.3725T>A (p.Val1242Glu) c.3044T>A (p.Val1015Glu) c.3974T>A (p.Val1325Glu) c.3953T>A (p.Val1318Glu) c.3869T>A (p.Val1290Glu) c.3845T>A (p.Val1282Glu) c.3833T>A (p.Val1278Glu) c.3812T>A (p.Val1271Glu) n.4212T>A | |
7 | g.87402254C>A | CA368056972 | ABCB4 | c.3682G>T (p.Val1228Leu) c.3703G>T (p.Val1235Leu) c.3541G>T (p.Val1181Leu) c.116G>T n.294G>T c.3598G>T (p.Val1200Leu) c.3574G>T (p.Val1192Leu) c.3562G>T (p.Val1188Leu) c.3724G>T (p.Val1242Leu) c.3043G>T (p.Val1015Leu) c.3973G>T (p.Val1325Leu) c.3952G>T (p.Val1318Leu) c.3868G>T (p.Val1290Leu) c.3844G>T (p.Val1282Leu) c.3832G>T (p.Val1278Leu) c.3811G>T (p.Val1271Leu) n.4211G>T | |
7 | g.87402254C>G | CA368056974 | ABCB4 | c.3682G>C (p.Val1228Leu) c.3703G>C (p.Val1235Leu) c.3541G>C (p.Val1181Leu) c.116G>C n.294G>C c.3598G>C (p.Val1200Leu) c.3574G>C (p.Val1192Leu) c.3562G>C (p.Val1188Leu) c.3724G>C (p.Val1242Leu) c.3043G>C (p.Val1015Leu) c.3973G>C (p.Val1325Leu) c.3952G>C (p.Val1318Leu) c.3868G>C (p.Val1290Leu) c.3844G>C (p.Val1282Leu) c.3832G>C (p.Val1278Leu) c.3811G>C (p.Val1271Leu) n.4211G>C | |
7 | g.87402254C>T | CA368056976 | ABCB4 | c.3682G>A (p.Val1228Met) c.3703G>A (p.Val1235Met) c.3541G>A (p.Val1181Met) c.116G>A n.294G>A c.3598G>A (p.Val1200Met) c.3574G>A (p.Val1192Met) c.3562G>A (p.Val1188Met) c.3724G>A (p.Val1242Met) c.3043G>A (p.Val1015Met) c.3973G>A (p.Val1325Met) c.3952G>A (p.Val1318Met) c.3868G>A (p.Val1290Met) c.3844G>A (p.Val1282Met) c.3832G>A (p.Val1278Met) c.3811G>A (p.Val1271Met) n.4211G>A | gnomAD v4 |
7 | g.87402255A= | CA1723587166 | ABCB4 | c.3681T= (p.Ile1227=) c.3702T= (p.Ile1234=) c.3540T= (p.Ile1180=) c.115T= n.293T= c.3597T= (p.Ile1199=) c.3573T= (p.Ile1191=) c.3561T= (p.Ile1187=) c.3723T= (p.Ile1241=) c.3042T= (p.Ile1014=) c.3972T= (p.Ile1324=) c.3951T= (p.Ile1317=) c.3867T= (p.Ile1289=) c.3843T= (p.Ile1281=) c.3831T= (p.Ile1277=) c.3810T= (p.Ile1270=) n.4210T= | |
7 | g.87402255A>C | CA368056977 | ABCB4 | c.3681T>G (p.Ile1227Met) c.3702T>G (p.Ile1234Met) c.3540T>G (p.Ile1180Met) c.115T>G n.293T>G c.3597T>G (p.Ile1199Met) c.3573T>G (p.Ile1191Met) c.3561T>G (p.Ile1187Met) c.3723T>G (p.Ile1241Met) c.3042T>G (p.Ile1014Met) c.3972T>G (p.Ile1324Met) c.3951T>G (p.Ile1317Met) c.3867T>G (p.Ile1289Met) c.3843T>G (p.Ile1281Met) c.3831T>G (p.Ile1277Met) c.3810T>G (p.Ile1270Met) n.4210T>G | |
7 | g.87402255A>G | CA456356295 | ABCB4 | c.3681T>C (p.Ile1227=) c.3702T>C (p.Ile1234=) c.3540T>C (p.Ile1180=) c.115T>C n.293T>C c.3597T>C (p.Ile1199=) c.3573T>C (p.Ile1191=) c.3561T>C (p.Ile1187=) c.3723T>C (p.Ile1241=) c.3042T>C (p.Ile1014=) c.3972T>C (p.Ile1324=) c.3951T>C (p.Ile1317=) c.3867T>C (p.Ile1289=) c.3843T>C (p.Ile1281=) c.3831T>C (p.Ile1277=) c.3810T>C (p.Ile1270=) n.4210T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87402255A>T | CA456356296 | ABCB4 | c.3681T>A (p.Ile1227=) c.3702T>A (p.Ile1234=) c.3540T>A (p.Ile1180=) c.115T>A n.293T>A c.3597T>A (p.Ile1199=) c.3573T>A (p.Ile1191=) c.3561T>A (p.Ile1187=) c.3723T>A (p.Ile1241=) c.3042T>A (p.Ile1014=) c.3972T>A (p.Ile1324=) c.3951T>A (p.Ile1317=) c.3867T>A (p.Ile1289=) c.3843T>A (p.Ile1281=) c.3831T>A (p.Ile1277=) c.3810T>A (p.Ile1270=) n.4210T>A | |
7 | g.87402256A= | CA1723587170 | ABCB4 | c.3680T= (p.Ile1227=) c.3701T= (p.Ile1234=) c.3539T= (p.Ile1180=) c.114T= n.292T= c.3596T= (p.Ile1199=) c.3572T= (p.Ile1191=) c.3560T= (p.Ile1187=) c.3722T= (p.Ile1241=) c.3041T= (p.Ile1014=) c.3971T= (p.Ile1324=) c.3950T= (p.Ile1317=) c.3866T= (p.Ile1289=) c.3842T= (p.Ile1281=) c.3830T= (p.Ile1277=) c.3809T= (p.Ile1270=) n.4209T= | |
7 | g.87402256A>C | CA368056979 | ABCB4 | c.3680T>G (p.Ile1227Ser) c.3701T>G (p.Ile1234Ser) c.3539T>G (p.Ile1180Ser) c.114T>G n.292T>G c.3596T>G (p.Ile1199Ser) c.3572T>G (p.Ile1191Ser) c.3560T>G (p.Ile1187Ser) c.3722T>G (p.Ile1241Ser) c.3041T>G (p.Ile1014Ser) c.3971T>G (p.Ile1324Ser) c.3950T>G (p.Ile1317Ser) c.3866T>G (p.Ile1289Ser) c.3842T>G (p.Ile1281Ser) c.3830T>G (p.Ile1277Ser) c.3809T>G (p.Ile1270Ser) n.4209T>G | ClinVar |
7 | g.87402256A>G | CA4326708 | ABCB4 | c.3680T>C (p.Ile1227Thr) c.3701T>C (p.Ile1234Thr) c.3539T>C (p.Ile1180Thr) c.114T>C n.292T>C c.3596T>C (p.Ile1199Thr) c.3572T>C (p.Ile1191Thr) c.3560T>C (p.Ile1187Thr) c.3722T>C (p.Ile1241Thr) c.3041T>C (p.Ile1014Thr) c.3971T>C (p.Ile1324Thr) c.3950T>C (p.Ile1317Thr) c.3866T>C (p.Ile1289Thr) c.3842T>C (p.Ile1281Thr) c.3830T>C (p.Ile1277Thr) c.3809T>C (p.Ile1270Thr) n.4209T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87402256A>T | CA368056982 | ABCB4 | c.3680T>A (p.Ile1227Asn) c.3701T>A (p.Ile1234Asn) c.3539T>A (p.Ile1180Asn) c.114T>A n.292T>A c.3596T>A (p.Ile1199Asn) c.3572T>A (p.Ile1191Asn) c.3560T>A (p.Ile1187Asn) c.3722T>A (p.Ile1241Asn) c.3041T>A (p.Ile1014Asn) c.3971T>A (p.Ile1324Asn) c.3950T>A (p.Ile1317Asn) c.3866T>A (p.Ile1289Asn) c.3842T>A (p.Ile1281Asn) c.3830T>A (p.Ile1277Asn) c.3809T>A (p.Ile1270Asn) n.4209T>A | |
7 | g.87402257T>A | CA368056984 | ABCB4 | c.3679A>T (p.Ile1227Phe) c.3700A>T (p.Ile1234Phe) c.3538A>T (p.Ile1180Phe) c.113A>T n.291A>T c.3595A>T (p.Ile1199Phe) c.3571A>T (p.Ile1191Phe) c.3559A>T (p.Ile1187Phe) c.3721A>T (p.Ile1241Phe) c.3040A>T (p.Ile1014Phe) c.3970A>T (p.Ile1324Phe) c.3949A>T (p.Ile1317Phe) c.3865A>T (p.Ile1289Phe) c.3841A>T (p.Ile1281Phe) c.3829A>T (p.Ile1277Phe) c.3808A>T (p.Ile1270Phe) n.4208A>T | |
7 | g.87402257T>C | CA4326709 | ABCB4 | c.3679A>G (p.Ile1227Val) c.3700A>G (p.Ile1234Val) c.3538A>G (p.Ile1180Val) c.113A>G n.291A>G c.3595A>G (p.Ile1199Val) c.3571A>G (p.Ile1191Val) c.3559A>G (p.Ile1187Val) c.3721A>G (p.Ile1241Val) c.3040A>G (p.Ile1014Val) c.3970A>G (p.Ile1324Val) c.3949A>G (p.Ile1317Val) c.3865A>G (p.Ile1289Val) c.3841A>G (p.Ile1281Val) c.3829A>G (p.Ile1277Val) c.3808A>G (p.Ile1270Val) n.4208A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87402257T>G | CA4326710 | ABCB4 | c.3679A>C (p.Ile1227Leu) c.3700A>C (p.Ile1234Leu) c.3538A>C (p.Ile1180Leu) c.113A>C n.291A>C c.3595A>C (p.Ile1199Leu) c.3571A>C (p.Ile1191Leu) c.3559A>C (p.Ile1187Leu) c.3721A>C (p.Ile1241Leu) c.3040A>C (p.Ile1014Leu) c.3970A>C (p.Ile1324Leu) c.3949A>C (p.Ile1317Leu) c.3865A>C (p.Ile1289Leu) c.3841A>C (p.Ile1281Leu) c.3829A>C (p.Ile1277Leu) c.3808A>C (p.Ile1270Leu) n.4208A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87402257T= | CA1723587175 | ABCB4 | c.3679A= (p.Ile1227=) c.3700A= (p.Ile1234=) c.3538A= (p.Ile1180=) c.113A= n.291A= c.3595A= (p.Ile1199=) c.3571A= (p.Ile1191=) c.3559A= (p.Ile1187=) c.3721A= (p.Ile1241=) c.3040A= (p.Ile1014=) c.3970A= (p.Ile1324=) c.3949A= (p.Ile1317=) c.3865A= (p.Ile1289=) c.3841A= (p.Ile1281=) c.3829A= (p.Ile1277=) c.3808A= (p.Ile1270=) n.4208A= | |
7 | g.87402258G>A | CA456356300 | ABCB4 | c.3678C>T (p.Cys1226=) c.3699C>T (p.Cys1233=) c.3537C>T (p.Cys1179=) c.112C>T n.290C>T c.3594C>T (p.Cys1198=) c.3570C>T (p.Cys1190=) c.3558C>T (p.Cys1186=) c.3720C>T (p.Cys1240=) c.3039C>T (p.Cys1013=) c.3969C>T (p.Cys1323=) c.3948C>T (p.Cys1316=) c.3864C>T (p.Cys1288=) c.3840C>T (p.Cys1280=) c.3828C>T (p.Cys1276=) c.3807C>T (p.Cys1269=) n.4207C>T | |
7 | g.87402258G>C | CA368056990 | ABCB4 | c.3678C>G (p.Cys1226Trp) c.3699C>G (p.Cys1233Trp) c.3537C>G (p.Cys1179Trp) c.112C>G n.290C>G c.3594C>G (p.Cys1198Trp) c.3570C>G (p.Cys1190Trp) c.3558C>G (p.Cys1186Trp) c.3720C>G (p.Cys1240Trp) c.3039C>G (p.Cys1013Trp) c.3969C>G (p.Cys1323Trp) c.3948C>G (p.Cys1316Trp) c.3864C>G (p.Cys1288Trp) c.3840C>G (p.Cys1280Trp) c.3828C>G (p.Cys1276Trp) c.3807C>G (p.Cys1269Trp) n.4207C>G | |
7 | g.87402258G>T | CA368056988 | ABCB4 | c.3678C>A (p.Cys1226Ter) c.3699C>A (p.Cys1233Ter) c.3537C>A (p.Cys1179Ter) c.112C>A n.290C>A c.3594C>A (p.Cys1198Ter) c.3570C>A (p.Cys1190Ter) c.3558C>A (p.Cys1186Ter) c.3720C>A (p.Cys1240Ter) c.3039C>A (p.Cys1013Ter) c.3969C>A (p.Cys1323Ter) c.3948C>A (p.Cys1316Ter) c.3864C>A (p.Cys1288Ter) c.3840C>A (p.Cys1280Ter) c.3828C>A (p.Cys1276Ter) c.3807C>A (p.Cys1269Ter) n.4207C>A | |
7 | g.87402259C>A | CA368056992 | ABCB4 | c.3677G>T (p.Cys1226Phe) c.3698G>T (p.Cys1233Phe) c.3536G>T (p.Cys1179Phe) c.111G>T n.289G>T c.3593G>T (p.Cys1198Phe) c.3569G>T (p.Cys1190Phe) c.3557G>T (p.Cys1186Phe) c.3719G>T (p.Cys1240Phe) c.3038G>T (p.Cys1013Phe) c.3968G>T (p.Cys1323Phe) c.3947G>T (p.Cys1316Phe) c.3863G>T (p.Cys1288Phe) c.3839G>T (p.Cys1280Phe) c.3827G>T (p.Cys1276Phe) c.3806G>T (p.Cys1269Phe) n.4206G>T | |
7 | g.87402259C>G | CA368056996 | ABCB4 | c.3677G>C (p.Cys1226Ser) c.3698G>C (p.Cys1233Ser) c.3536G>C (p.Cys1179Ser) c.111G>C n.289G>C c.3593G>C (p.Cys1198Ser) c.3569G>C (p.Cys1190Ser) c.3557G>C (p.Cys1186Ser) c.3719G>C (p.Cys1240Ser) c.3038G>C (p.Cys1013Ser) c.3968G>C (p.Cys1323Ser) c.3947G>C (p.Cys1316Ser) c.3863G>C (p.Cys1288Ser) c.3839G>C (p.Cys1280Ser) c.3827G>C (p.Cys1276Ser) c.3806G>C (p.Cys1269Ser) n.4206G>C | |
7 | g.87402259C>T | CA368056994 | ABCB4 | c.3677G>A (p.Cys1226Tyr) c.3698G>A (p.Cys1233Tyr) c.3536G>A (p.Cys1179Tyr) c.111G>A n.289G>A c.3593G>A (p.Cys1198Tyr) c.3569G>A (p.Cys1190Tyr) c.3557G>A (p.Cys1186Tyr) c.3719G>A (p.Cys1240Tyr) c.3038G>A (p.Cys1013Tyr) c.3968G>A (p.Cys1323Tyr) c.3947G>A (p.Cys1316Tyr) c.3863G>A (p.Cys1288Tyr) c.3839G>A (p.Cys1280Tyr) c.3827G>A (p.Cys1276Tyr) c.3806G>A (p.Cys1269Tyr) n.4206G>A | |
7 | g.87402260A= | CA1723587185 | ABCB4 | c.3676T= (p.Cys1226=) c.3697T= (p.Cys1233=) c.3535T= (p.Cys1179=) c.110T= n.288T= c.3592T= (p.Cys1198=) c.3568T= (p.Cys1190=) c.3556T= (p.Cys1186=) c.3718T= (p.Cys1240=) c.3037T= (p.Cys1013=) c.3967T= (p.Cys1323=) c.3946T= (p.Cys1316=) c.3862T= (p.Cys1288=) c.3838T= (p.Cys1280=) c.3826T= (p.Cys1276=) c.3805T= (p.Cys1269=) n.4205T= | |
7 | g.87402260A>C | CA4326711 | ABCB4 | c.3676T>G (p.Cys1226Gly) c.3697T>G (p.Cys1233Gly) c.3535T>G (p.Cys1179Gly) c.110T>G n.288T>G c.3592T>G (p.Cys1198Gly) c.3568T>G (p.Cys1190Gly) c.3556T>G (p.Cys1186Gly) c.3718T>G (p.Cys1240Gly) c.3037T>G (p.Cys1013Gly) c.3967T>G (p.Cys1323Gly) c.3946T>G (p.Cys1316Gly) c.3862T>G (p.Cys1288Gly) c.3838T>G (p.Cys1280Gly) c.3826T>G (p.Cys1276Gly) c.3805T>G (p.Cys1269Gly) n.4205T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402260A>G | CA368056999 | ABCB4 | c.3676T>C (p.Cys1226Arg) c.3697T>C (p.Cys1233Arg) c.3535T>C (p.Cys1179Arg) c.110T>C n.288T>C c.3592T>C (p.Cys1198Arg) c.3568T>C (p.Cys1190Arg) c.3556T>C (p.Cys1186Arg) c.3718T>C (p.Cys1240Arg) c.3037T>C (p.Cys1013Arg) c.3967T>C (p.Cys1323Arg) c.3946T>C (p.Cys1316Arg) c.3862T>C (p.Cys1288Arg) c.3838T>C (p.Cys1280Arg) c.3826T>C (p.Cys1276Arg) c.3805T>C (p.Cys1269Arg) n.4205T>C | |
7 | g.87402260A>T | CA368056997 | ABCB4 | c.3676T>A (p.Cys1226Ser) c.3697T>A (p.Cys1233Ser) c.3535T>A (p.Cys1179Ser) c.110T>A n.288T>A c.3592T>A (p.Cys1198Ser) c.3568T>A (p.Cys1190Ser) c.3556T>A (p.Cys1186Ser) c.3718T>A (p.Cys1240Ser) c.3037T>A (p.Cys1013Ser) c.3967T>A (p.Cys1323Ser) c.3946T>A (p.Cys1316Ser) c.3862T>A (p.Cys1288Ser) c.3838T>A (p.Cys1280Ser) c.3826T>A (p.Cys1276Ser) c.3805T>A (p.Cys1269Ser) n.4205T>A | |
7 | g.87402261G>A | CA456356304 | ABCB4 | c.3675C>T (p.Thr1225=) c.3696C>T (p.Thr1232=) c.3534C>T (p.Thr1178=) c.109C>T n.287C>T c.3591C>T (p.Thr1197=) c.3567C>T (p.Thr1189=) c.3555C>T (p.Thr1185=) c.3717C>T (p.Thr1239=) c.3036C>T (p.Thr1012=) c.3966C>T (p.Thr1322=) c.3945C>T (p.Thr1315=) c.3861C>T (p.Thr1287=) c.3837C>T (p.Thr1279=) c.3825C>T (p.Thr1275=) c.3804C>T (p.Thr1268=) n.4204C>T | |
7 | g.87402261G>C | CA456356305 | ABCB4 | c.3675C>G (p.Thr1225=) c.3696C>G (p.Thr1232=) c.3534C>G (p.Thr1178=) c.109C>G n.287C>G c.3591C>G (p.Thr1197=) c.3567C>G (p.Thr1189=) c.3555C>G (p.Thr1185=) c.3717C>G (p.Thr1239=) c.3036C>G (p.Thr1012=) c.3966C>G (p.Thr1322=) c.3945C>G (p.Thr1315=) c.3861C>G (p.Thr1287=) c.3837C>G (p.Thr1279=) c.3825C>G (p.Thr1275=) c.3804C>G (p.Thr1268=) n.4204C>G | |
7 | g.87402261G>T | CA456356306 | ABCB4 | c.3675C>A (p.Thr1225=) c.3696C>A (p.Thr1232=) c.3534C>A (p.Thr1178=) c.109C>A n.287C>A c.3591C>A (p.Thr1197=) c.3567C>A (p.Thr1189=) c.3555C>A (p.Thr1185=) c.3717C>A (p.Thr1239=) c.3036C>A (p.Thr1012=) c.3966C>A (p.Thr1322=) c.3945C>A (p.Thr1315=) c.3861C>A (p.Thr1287=) c.3837C>A (p.Thr1279=) c.3825C>A (p.Thr1275=) c.3804C>A (p.Thr1268=) n.4204C>A | |
7 | g.87402262G>A | CA368057002 | ABCB4 | c.3674C>T (p.Thr1225Ile) c.3695C>T (p.Thr1232Ile) c.3533C>T (p.Thr1178Ile) c.108C>T n.286C>T c.3590C>T (p.Thr1197Ile) c.3566C>T (p.Thr1189Ile) c.3554C>T (p.Thr1185Ile) c.3716C>T (p.Thr1239Ile) c.3035C>T (p.Thr1012Ile) c.3965C>T (p.Thr1322Ile) c.3944C>T (p.Thr1315Ile) c.3860C>T (p.Thr1287Ile) c.3836C>T (p.Thr1279Ile) c.3824C>T (p.Thr1275Ile) c.3803C>T (p.Thr1268Ile) n.4203C>T | |
7 | g.87402262G>C | CA4326712 | ABCB4 | c.3674C>G (p.Thr1225Ser) c.3695C>G (p.Thr1232Ser) c.3533C>G (p.Thr1178Ser) c.108C>G n.286C>G c.3590C>G (p.Thr1197Ser) c.3566C>G (p.Thr1189Ser) c.3554C>G (p.Thr1185Ser) c.3716C>G (p.Thr1239Ser) c.3035C>G (p.Thr1012Ser) c.3965C>G (p.Thr1322Ser) c.3944C>G (p.Thr1315Ser) c.3860C>G (p.Thr1287Ser) c.3836C>G (p.Thr1279Ser) c.3824C>G (p.Thr1275Ser) c.3803C>G (p.Thr1268Ser) n.4203C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87402262G= | CA1723587186 | ABCB4 | c.3674C= (p.Thr1225=) c.3695C= (p.Thr1232=) c.3533C= (p.Thr1178=) c.108C= n.286C= c.3590C= (p.Thr1197=) c.3566C= (p.Thr1189=) c.3554C= (p.Thr1185=) c.3716C= (p.Thr1239=) c.3035C= (p.Thr1012=) c.3965C= (p.Thr1322=) c.3944C= (p.Thr1315=) c.3860C= (p.Thr1287=) c.3836C= (p.Thr1279=) c.3824C= (p.Thr1275=) c.3803C= (p.Thr1268=) n.4203C= | |
7 | g.87402262G>T | CA368057003 | ABCB4 | c.3674C>A (p.Thr1225Asn) c.3695C>A (p.Thr1232Asn) c.3533C>A (p.Thr1178Asn) c.108C>A n.286C>A c.3590C>A (p.Thr1197Asn) c.3566C>A (p.Thr1189Asn) c.3554C>A (p.Thr1185Asn) c.3716C>A (p.Thr1239Asn) c.3035C>A (p.Thr1012Asn) c.3965C>A (p.Thr1322Asn) c.3944C>A (p.Thr1315Asn) c.3860C>A (p.Thr1287Asn) c.3836C>A (p.Thr1279Asn) c.3824C>A (p.Thr1275Asn) c.3803C>A (p.Thr1268Asn) n.4203C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.87402263T>A | CA368057006 | ABCB4 | c.3673A>T (p.Thr1225Ser) c.3694A>T (p.Thr1232Ser) c.3532A>T (p.Thr1178Ser) c.107A>T n.285A>T c.3589A>T (p.Thr1197Ser) c.3565A>T (p.Thr1189Ser) c.3553A>T (p.Thr1185Ser) c.3715A>T (p.Thr1239Ser) c.3034A>T (p.Thr1012Ser) c.3964A>T (p.Thr1322Ser) c.3943A>T (p.Thr1315Ser) c.3859A>T (p.Thr1287Ser) c.3835A>T (p.Thr1279Ser) c.3823A>T (p.Thr1275Ser) c.3802A>T (p.Thr1268Ser) n.4202A>T | gnomAD v4 |
7 | g.87402263T>C | CA368057008 | ABCB4 | c.3673A>G (p.Thr1225Ala) c.3694A>G (p.Thr1232Ala) c.3532A>G (p.Thr1178Ala) c.107A>G n.285A>G c.3589A>G (p.Thr1197Ala) c.3565A>G (p.Thr1189Ala) c.3553A>G (p.Thr1185Ala) c.3715A>G (p.Thr1239Ala) c.3034A>G (p.Thr1012Ala) c.3964A>G (p.Thr1322Ala) c.3943A>G (p.Thr1315Ala) c.3859A>G (p.Thr1287Ala) c.3835A>G (p.Thr1279Ala) c.3823A>G (p.Thr1275Ala) c.3802A>G (p.Thr1268Ala) n.4202A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402263T>G | CA368057010 | ABCB4 | c.3673A>C (p.Thr1225Pro) c.3694A>C (p.Thr1232Pro) c.3532A>C (p.Thr1178Pro) c.107A>C n.285A>C c.3589A>C (p.Thr1197Pro) c.3565A>C (p.Thr1189Pro) c.3553A>C (p.Thr1185Pro) c.3715A>C (p.Thr1239Pro) c.3034A>C (p.Thr1012Pro) c.3964A>C (p.Thr1322Pro) c.3943A>C (p.Thr1315Pro) c.3859A>C (p.Thr1287Pro) c.3835A>C (p.Thr1279Pro) c.3823A>C (p.Thr1275Pro) c.3802A>C (p.Thr1268Pro) n.4202A>C | gnomAD v4 |
7 | g.87402263T= | CA1723587195 | ABCB4 | c.3673A= (p.Thr1225=) c.3694A= (p.Thr1232=) c.3532A= (p.Thr1178=) c.107A= n.285A= c.3589A= (p.Thr1197=) c.3565A= (p.Thr1189=) c.3553A= (p.Thr1185=) c.3715A= (p.Thr1239=) c.3034A= (p.Thr1012=) c.3964A= (p.Thr1322=) c.3943A= (p.Thr1315=) c.3859A= (p.Thr1287=) c.3835A= (p.Thr1279=) c.3823A= (p.Thr1275=) c.3802A= (p.Thr1268=) n.4202A= | |
7 | g.87402264G>A | CA456356309 | ABCB4 | c.3672C>T (p.Arg1224=) c.3693C>T (p.Arg1231=) c.3531C>T (p.Arg1177=) c.106C>T n.284C>T c.3588C>T (p.Arg1196=) c.3564C>T (p.Arg1188=) c.3552C>T (p.Arg1184=) c.3714C>T (p.Arg1238=) c.3033C>T (p.Arg1011=) c.3963C>T (p.Arg1321=) c.3942C>T (p.Arg1314=) c.3858C>T (p.Arg1286=) c.3834C>T (p.Arg1278=) c.3822C>T (p.Arg1274=) c.3801C>T (p.Arg1267=) n.4201C>T | |
7 | g.87402264G>C | CA456356311 | ABCB4 | c.3672C>G (p.Arg1224=) c.3693C>G (p.Arg1231=) c.3531C>G (p.Arg1177=) c.106C>G n.284C>G c.3588C>G (p.Arg1196=) c.3564C>G (p.Arg1188=) c.3552C>G (p.Arg1184=) c.3714C>G (p.Arg1238=) c.3033C>G (p.Arg1011=) c.3963C>G (p.Arg1321=) c.3942C>G (p.Arg1314=) c.3858C>G (p.Arg1286=) c.3834C>G (p.Arg1278=) c.3822C>G (p.Arg1274=) c.3801C>G (p.Arg1267=) n.4201C>G | |
7 | g.87402264G>T | CA456356310 | ABCB4 | c.3672C>A (p.Arg1224=) c.3693C>A (p.Arg1231=) c.3531C>A (p.Arg1177=) c.106C>A n.284C>A c.3588C>A (p.Arg1196=) c.3564C>A (p.Arg1188=) c.3552C>A (p.Arg1184=) c.3714C>A (p.Arg1238=) c.3033C>A (p.Arg1011=) c.3963C>A (p.Arg1321=) c.3942C>A (p.Arg1314=) c.3858C>A (p.Arg1286=) c.3834C>A (p.Arg1278=) c.3822C>A (p.Arg1274=) c.3801C>A (p.Arg1267=) n.4201C>A | |
7 | g.87402265C>A | CA368057012 | ABCB4 | c.3671G>T (p.Arg1224Leu) c.3692G>T (p.Arg1231Leu) c.3530G>T (p.Arg1177Leu) c.105G>T n.283G>T c.3587G>T (p.Arg1196Leu) c.3563G>T (p.Arg1188Leu) c.3551G>T (p.Arg1184Leu) c.3713G>T (p.Arg1238Leu) c.3032G>T (p.Arg1011Leu) c.3962G>T (p.Arg1321Leu) c.3941G>T (p.Arg1314Leu) c.3857G>T (p.Arg1286Leu) c.3833G>T (p.Arg1278Leu) c.3821G>T (p.Arg1274Leu) c.3800G>T (p.Arg1267Leu) n.4200G>T | |
7 | g.87402265C= | CA1723587198 | ABCB4 | c.3671G= (p.Arg1224=) c.3692G= (p.Arg1231=) c.3530G= (p.Arg1177=) c.105G= n.283G= c.3587G= (p.Arg1196=) c.3563G= (p.Arg1188=) c.3551G= (p.Arg1184=) c.3713G= (p.Arg1238=) c.3032G= (p.Arg1011=) c.3962G= (p.Arg1321=) c.3941G= (p.Arg1314=) c.3857G= (p.Arg1286=) c.3833G= (p.Arg1278=) c.3821G= (p.Arg1274=) c.3800G= (p.Arg1267=) n.4200G= | |
7 | g.87402265C>G | CA368057014 | ABCB4 | c.3671G>C (p.Arg1224Pro) c.3692G>C (p.Arg1231Pro) c.3530G>C (p.Arg1177Pro) c.105G>C n.283G>C c.3587G>C (p.Arg1196Pro) c.3563G>C (p.Arg1188Pro) c.3551G>C (p.Arg1184Pro) c.3713G>C (p.Arg1238Pro) c.3032G>C (p.Arg1011Pro) c.3962G>C (p.Arg1321Pro) c.3941G>C (p.Arg1314Pro) c.3857G>C (p.Arg1286Pro) c.3833G>C (p.Arg1278Pro) c.3821G>C (p.Arg1274Pro) c.3800G>C (p.Arg1267Pro) n.4200G>C | |
7 | g.87402265C>T | CA4326713 | ABCB4 | c.3671G>A (p.Arg1224His) c.3692G>A (p.Arg1231His) c.3530G>A (p.Arg1177His) c.105G>A n.283G>A c.3587G>A (p.Arg1196His) c.3563G>A (p.Arg1188His) c.3551G>A (p.Arg1184His) c.3713G>A (p.Arg1238His) c.3032G>A (p.Arg1011His) c.3962G>A (p.Arg1321His) c.3941G>A (p.Arg1314His) c.3857G>A (p.Arg1286His) c.3833G>A (p.Arg1278His) c.3821G>A (p.Arg1274His) c.3800G>A (p.Arg1267His) n.4200G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402266G>A | CA4326714 | ABCB4 | c.3670C>T (p.Arg1224Cys) c.3691C>T (p.Arg1231Cys) c.3529C>T (p.Arg1177Cys) c.104C>T n.282C>T c.3586C>T (p.Arg1196Cys) c.3562C>T (p.Arg1188Cys) c.3550C>T (p.Arg1184Cys) c.3712C>T (p.Arg1238Cys) c.3031C>T (p.Arg1011Cys) c.3961C>T (p.Arg1321Cys) c.3940C>T (p.Arg1314Cys) c.3856C>T (p.Arg1286Cys) c.3832C>T (p.Arg1278Cys) c.3820C>T (p.Arg1274Cys) c.3799C>T (p.Arg1267Cys) n.4199C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87402266G>C | CA368057017 | ABCB4 | c.3670C>G (p.Arg1224Gly) c.3691C>G (p.Arg1231Gly) c.3529C>G (p.Arg1177Gly) c.104C>G n.282C>G c.3586C>G (p.Arg1196Gly) c.3562C>G (p.Arg1188Gly) c.3550C>G (p.Arg1184Gly) c.3712C>G (p.Arg1238Gly) c.3031C>G (p.Arg1011Gly) c.3961C>G (p.Arg1321Gly) c.3940C>G (p.Arg1314Gly) c.3856C>G (p.Arg1286Gly) c.3832C>G (p.Arg1278Gly) c.3820C>G (p.Arg1274Gly) c.3799C>G (p.Arg1267Gly) n.4199C>G | |
7 | g.87402266G= | CA1723587201 | ABCB4 | c.3670C= (p.Arg1224=) c.3691C= (p.Arg1231=) c.3529C= (p.Arg1177=) c.104C= n.282C= c.3586C= (p.Arg1196=) c.3562C= (p.Arg1188=) c.3550C= (p.Arg1184=) c.3712C= (p.Arg1238=) c.3031C= (p.Arg1011=) c.3961C= (p.Arg1321=) c.3940C= (p.Arg1314=) c.3856C= (p.Arg1286=) c.3832C= (p.Arg1278=) c.3820C= (p.Arg1274=) c.3799C= (p.Arg1267=) n.4199C= | |
7 | g.87402266G>T | CA368057019 | ABCB4 | c.3670C>A (p.Arg1224Ser) c.3691C>A (p.Arg1231Ser) c.3529C>A (p.Arg1177Ser) c.104C>A n.282C>A c.3586C>A (p.Arg1196Ser) c.3562C>A (p.Arg1188Ser) c.3550C>A (p.Arg1184Ser) c.3712C>A (p.Arg1238Ser) c.3031C>A (p.Arg1011Ser) c.3961C>A (p.Arg1321Ser) c.3940C>A (p.Arg1314Ser) c.3856C>A (p.Arg1286Ser) c.3832C>A (p.Arg1278Ser) c.3820C>A (p.Arg1274Ser) c.3799C>A (p.Arg1267Ser) n.4199C>A | |
7 | g.87402267G>A | CA456356312 | ABCB4 | c.3669C>T (p.Gly1223=) c.3690C>T (p.Gly1230=) c.3528C>T (p.Gly1176=) c.103C>T n.281C>T c.3585C>T (p.Gly1195=) c.3561C>T (p.Gly1187=) c.3549C>T (p.Gly1183=) c.3711C>T (p.Gly1237=) c.3030C>T (p.Gly1010=) c.3960C>T (p.Gly1320=) c.3939C>T (p.Gly1313=) c.3855C>T (p.Gly1285=) c.3831C>T (p.Gly1277=) c.3819C>T (p.Gly1273=) c.3798C>T (p.Gly1266=) n.4198C>T | |
7 | g.87402267G>C | CA456356314 | ABCB4 | c.3669C>G (p.Gly1223=) c.3690C>G (p.Gly1230=) c.3528C>G (p.Gly1176=) c.103C>G n.281C>G c.3585C>G (p.Gly1195=) c.3561C>G (p.Gly1187=) c.3549C>G (p.Gly1183=) c.3711C>G (p.Gly1237=) c.3030C>G (p.Gly1010=) c.3960C>G (p.Gly1320=) c.3939C>G (p.Gly1313=) c.3855C>G (p.Gly1285=) c.3831C>G (p.Gly1277=) c.3819C>G (p.Gly1273=) c.3798C>G (p.Gly1266=) n.4198C>G | gnomAD v4 |
7 | g.87402267G>T | CA456356315 | ABCB4 | c.3669C>A (p.Gly1223=) c.3690C>A (p.Gly1230=) c.3528C>A (p.Gly1176=) c.103C>A n.281C>A c.3585C>A (p.Gly1195=) c.3561C>A (p.Gly1187=) c.3549C>A (p.Gly1183=) c.3711C>A (p.Gly1237=) c.3030C>A (p.Gly1010=) c.3960C>A (p.Gly1320=) c.3939C>A (p.Gly1313=) c.3855C>A (p.Gly1285=) c.3831C>A (p.Gly1277=) c.3819C>A (p.Gly1273=) c.3798C>A (p.Gly1266=) n.4198C>A | |
7 | g.87402268C>A | CA368057021 | ABCB4 | c.3668G>T (p.Gly1223Val) c.3689G>T (p.Gly1230Val) c.3527G>T (p.Gly1176Val) c.102G>T n.280G>T c.3584G>T (p.Gly1195Val) c.3560G>T (p.Gly1187Val) c.3548G>T (p.Gly1183Val) c.3710G>T (p.Gly1237Val) c.3029G>T (p.Gly1010Val) c.3959G>T (p.Gly1320Val) c.3938G>T (p.Gly1313Val) c.3854G>T (p.Gly1285Val) c.3830G>T (p.Gly1277Val) c.3818G>T (p.Gly1273Val) c.3797G>T (p.Gly1266Val) n.4197G>T | |
7 | g.87402268C>G | CA368057023 | ABCB4 | c.3668G>C (p.Gly1223Ala) c.3689G>C (p.Gly1230Ala) c.3527G>C (p.Gly1176Ala) c.102G>C n.280G>C c.3584G>C (p.Gly1195Ala) c.3560G>C (p.Gly1187Ala) c.3548G>C (p.Gly1183Ala) c.3710G>C (p.Gly1237Ala) c.3029G>C (p.Gly1010Ala) c.3959G>C (p.Gly1320Ala) c.3938G>C (p.Gly1313Ala) c.3854G>C (p.Gly1285Ala) c.3830G>C (p.Gly1277Ala) c.3818G>C (p.Gly1273Ala) c.3797G>C (p.Gly1266Ala) n.4197G>C | |
7 | g.87402268C>T | CA368057025 | ABCB4 | c.3668G>A (p.Gly1223Asp) c.3689G>A (p.Gly1230Asp) c.3527G>A (p.Gly1176Asp) c.102G>A n.280G>A c.3584G>A (p.Gly1195Asp) c.3560G>A (p.Gly1187Asp) c.3548G>A (p.Gly1183Asp) c.3710G>A (p.Gly1237Asp) c.3029G>A (p.Gly1010Asp) c.3959G>A (p.Gly1320Asp) c.3938G>A (p.Gly1313Asp) c.3854G>A (p.Gly1285Asp) c.3830G>A (p.Gly1277Asp) c.3818G>A (p.Gly1273Asp) c.3797G>A (p.Gly1266Asp) n.4197G>A | |
7 | g.87402269C>A | CA368057031 | ABCB4 | c.3667G>T (p.Gly1223Cys) c.3688G>T (p.Gly1230Cys) c.3526G>T (p.Gly1176Cys) c.101G>T n.279G>T c.3583G>T (p.Gly1195Cys) c.3559G>T (p.Gly1187Cys) c.3547G>T (p.Gly1183Cys) c.3709G>T (p.Gly1237Cys) c.3028G>T (p.Gly1010Cys) c.3958G>T (p.Gly1320Cys) c.3937G>T (p.Gly1313Cys) c.3853G>T (p.Gly1285Cys) c.3829G>T (p.Gly1277Cys) c.3817G>T (p.Gly1273Cys) c.3796G>T (p.Gly1266Cys) n.4196G>T | |
7 | g.87402269C>G | CA368057029 | ABCB4 | c.3667G>C (p.Gly1223Arg) c.3688G>C (p.Gly1230Arg) c.3526G>C (p.Gly1176Arg) c.101G>C n.279G>C c.3583G>C (p.Gly1195Arg) c.3559G>C (p.Gly1187Arg) c.3547G>C (p.Gly1183Arg) c.3709G>C (p.Gly1237Arg) c.3028G>C (p.Gly1010Arg) c.3958G>C (p.Gly1320Arg) c.3937G>C (p.Gly1313Arg) c.3853G>C (p.Gly1285Arg) c.3829G>C (p.Gly1277Arg) c.3817G>C (p.Gly1273Arg) c.3796G>C (p.Gly1266Arg) n.4196G>C | |
7 | g.87402269C>T | CA368057027 | ABCB4 | c.3667G>A (p.Gly1223Ser) c.3688G>A (p.Gly1230Ser) c.3526G>A (p.Gly1176Ser) c.101G>A n.279G>A c.3583G>A (p.Gly1195Ser) c.3559G>A (p.Gly1187Ser) c.3547G>A (p.Gly1183Ser) c.3709G>A (p.Gly1237Ser) c.3028G>A (p.Gly1010Ser) c.3958G>A (p.Gly1320Ser) c.3937G>A (p.Gly1313Ser) c.3853G>A (p.Gly1285Ser) c.3829G>A (p.Gly1277Ser) c.3817G>A (p.Gly1273Ser) c.3796G>A (p.Gly1266Ser) n.4196G>A | |
7 | g.87402270T>A | CA368057033 | ABCB4 | c.3666A>T (p.Glu1222Asp) c.3687A>T (p.Glu1229Asp) c.3525A>T (p.Glu1175Asp) c.100A>T n.278A>T c.3582A>T (p.Glu1194Asp) c.3558A>T (p.Glu1186Asp) c.3546A>T (p.Glu1182Asp) c.3708A>T (p.Glu1236Asp) c.3027A>T (p.Glu1009Asp) c.3957A>T (p.Glu1319Asp) c.3936A>T (p.Glu1312Asp) c.3852A>T (p.Glu1284Asp) c.3828A>T (p.Glu1276Asp) c.3816A>T (p.Glu1272Asp) c.3795A>T (p.Glu1265Asp) n.4195A>T | |
7 | g.87402270T>C | CA456356319 | ABCB4 | c.3666A>G (p.Glu1222=) c.3687A>G (p.Glu1229=) c.3525A>G (p.Glu1175=) c.100A>G n.278A>G c.3582A>G (p.Glu1194=) c.3558A>G (p.Glu1186=) c.3546A>G (p.Glu1182=) c.3708A>G (p.Glu1236=) c.3027A>G (p.Glu1009=) c.3957A>G (p.Glu1319=) c.3936A>G (p.Glu1312=) c.3852A>G (p.Glu1284=) c.3828A>G (p.Glu1276=) c.3816A>G (p.Glu1272=) c.3795A>G (p.Glu1265=) n.4195A>G | |
7 | g.87402270T>G | CA368057035 | ABCB4 | c.3666A>C (p.Glu1222Asp) c.3687A>C (p.Glu1229Asp) c.3525A>C (p.Glu1175Asp) c.100A>C n.278A>C c.3582A>C (p.Glu1194Asp) c.3558A>C (p.Glu1186Asp) c.3546A>C (p.Glu1182Asp) c.3708A>C (p.Glu1236Asp) c.3027A>C (p.Glu1009Asp) c.3957A>C (p.Glu1319Asp) c.3936A>C (p.Glu1312Asp) c.3852A>C (p.Glu1284Asp) c.3828A>C (p.Glu1276Asp) c.3816A>C (p.Glu1272Asp) c.3795A>C (p.Glu1265Asp) n.4195A>C | |
7 | g.87402271del | CA2683598162 | ABCB4 | c.3666del (p.Gly1223AlafsTer6) c.3687del (p.Gly1230AlafsTer6) c.3525del (p.Gly1176AlafsTer6) c.100del n.278del c.3582del (p.Gly1195AlafsTer6) c.3558del (p.Gly1187AlafsTer6) c.3546del (p.Gly1183AlafsTer6) c.3708del (p.Gly1237AlafsTer6) c.3027del (p.Gly1010AlafsTer6) c.3957del (p.Gly1320AlafsTer6) c.3936del (p.Gly1313AlafsTer6) c.3852del (p.Gly1285AlafsTer6) c.3828del (p.Gly1277AlafsTer6) c.3816del (p.Gly1273AlafsTer6) c.3795del (p.Gly1266AlafsTer6) n.4195del | gnomAD v4 |
7 | g.87402271T>A | CA368057036 | ABCB4 | c.3665A>T (p.Glu1222Val) c.3686A>T (p.Glu1229Val) c.3524A>T (p.Glu1175Val) c.99A>T n.277A>T c.3581A>T (p.Glu1194Val) c.3557A>T (p.Glu1186Val) c.3545A>T (p.Glu1182Val) c.3707A>T (p.Glu1236Val) c.3026A>T (p.Glu1009Val) c.3956A>T (p.Glu1319Val) c.3935A>T (p.Glu1312Val) c.3851A>T (p.Glu1284Val) c.3827A>T (p.Glu1276Val) c.3815A>T (p.Glu1272Val) c.3794A>T (p.Glu1265Val) n.4194A>T | |
7 | g.87402271T>C | CA162102594 | ABCB4 | c.3665A>G (p.Glu1222Gly) c.3686A>G (p.Glu1229Gly) c.3524A>G (p.Glu1175Gly) c.99A>G n.277A>G c.3581A>G (p.Glu1194Gly) c.3557A>G (p.Glu1186Gly) c.3545A>G (p.Glu1182Gly) c.3707A>G (p.Glu1236Gly) c.3026A>G (p.Glu1009Gly) c.3956A>G (p.Glu1319Gly) c.3935A>G (p.Glu1312Gly) c.3851A>G (p.Glu1284Gly) c.3827A>G (p.Glu1276Gly) c.3815A>G (p.Glu1272Gly) c.3794A>G (p.Glu1265Gly) n.4194A>G | dbSNP |
7 | g.87402271T>G | CA368057039 | ABCB4 | c.3665A>C (p.Glu1222Ala) c.3686A>C (p.Glu1229Ala) c.3524A>C (p.Glu1175Ala) c.99A>C n.277A>C c.3581A>C (p.Glu1194Ala) c.3557A>C (p.Glu1186Ala) c.3545A>C (p.Glu1182Ala) c.3707A>C (p.Glu1236Ala) c.3026A>C (p.Glu1009Ala) c.3956A>C (p.Glu1319Ala) c.3935A>C (p.Glu1312Ala) c.3851A>C (p.Glu1284Ala) c.3827A>C (p.Glu1276Ala) c.3815A>C (p.Glu1272Ala) c.3794A>C (p.Glu1265Ala) n.4194A>C | |
7 | g.87402271T= | CA1723587204 | ABCB4 | c.3665A= (p.Glu1222=) c.3686A= (p.Glu1229=) c.3524A= (p.Glu1175=) c.99A= n.277A= c.3581A= (p.Glu1194=) c.3557A= (p.Glu1186=) c.3545A= (p.Glu1182=) c.3707A= (p.Glu1236=) c.3026A= (p.Glu1009=) c.3956A= (p.Glu1319=) c.3935A= (p.Glu1312=) c.3851A= (p.Glu1284=) c.3827A= (p.Glu1276=) c.3815A= (p.Glu1272=) c.3794A= (p.Glu1265=) n.4194A= | |
7 | g.87402272C>A | CA368057041 | ABCB4 | c.3664G>T (p.Glu1222Ter) c.3685G>T (p.Glu1229Ter) c.3523G>T (p.Glu1175Ter) c.98G>T n.276G>T c.3580G>T (p.Glu1194Ter) c.3556G>T (p.Glu1186Ter) c.3544G>T (p.Glu1182Ter) c.3706G>T (p.Glu1236Ter) c.3025G>T (p.Glu1009Ter) c.3955G>T (p.Glu1319Ter) c.3934G>T (p.Glu1312Ter) c.3850G>T (p.Glu1284Ter) c.3826G>T (p.Glu1276Ter) c.3814G>T (p.Glu1272Ter) c.3793G>T (p.Glu1265Ter) n.4193G>T | |
7 | g.87402272C= | CA1723587209 | ABCB4 | c.3664G= (p.Glu1222=) c.3685G= (p.Glu1229=) c.3523G= (p.Glu1175=) c.98G= n.276G= c.3580G= (p.Glu1194=) c.3556G= (p.Glu1186=) c.3544G= (p.Glu1182=) c.3706G= (p.Glu1236=) c.3025G= (p.Glu1009=) c.3955G= (p.Glu1319=) c.3934G= (p.Glu1312=) c.3850G= (p.Glu1284=) c.3826G= (p.Glu1276=) c.3814G= (p.Glu1272=) c.3793G= (p.Glu1265=) n.4193G= | |
7 | g.87402272C>G | CA368057042 | ABCB4 | c.3664G>C (p.Glu1222Gln) c.3685G>C (p.Glu1229Gln) c.3523G>C (p.Glu1175Gln) c.98G>C n.276G>C c.3580G>C (p.Glu1194Gln) c.3556G>C (p.Glu1186Gln) c.3544G>C (p.Glu1182Gln) c.3706G>C (p.Glu1236Gln) c.3025G>C (p.Glu1009Gln) c.3955G>C (p.Glu1319Gln) c.3934G>C (p.Glu1312Gln) c.3850G>C (p.Glu1284Gln) c.3826G>C (p.Glu1276Gln) c.3814G>C (p.Glu1272Gln) c.3793G>C (p.Glu1265Gln) n.4193G>C | |
7 | g.87402272C>T | CA4326715 | ABCB4 | c.3664G>A (p.Glu1222Lys) c.3685G>A (p.Glu1229Lys) c.3523G>A (p.Glu1175Lys) c.98G>A n.276G>A c.3580G>A (p.Glu1194Lys) c.3556G>A (p.Glu1186Lys) c.3544G>A (p.Glu1182Lys) c.3706G>A (p.Glu1236Lys) c.3025G>A (p.Glu1009Lys) c.3955G>A (p.Glu1319Lys) c.3934G>A (p.Glu1312Lys) c.3850G>A (p.Glu1284Lys) c.3826G>A (p.Glu1276Lys) c.3814G>A (p.Glu1272Lys) c.3793G>A (p.Glu1265Lys) n.4193G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |