Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.48167495C>A | CA395803793 | ABCC11 | c.4056+1G>T (n.4056+1G>T) c.3942+1G>T (n.3942+1G>T) n.1356+1G>T c.3858+1G>T (n.3858+1G>T) c.3099+1G>T (n.3099+1G>T) c.2187+1G>T (n.2187+1G>T) c.3948+1G>T (n.3948+1G>T) n.6734+1G>T c.4062+1G>T (n.4062+1G>T) | gnomAD v4 |
16 | g.48167495C>G | CA395803790 | ABCC11 | c.4056+1G>C (n.4056+1G>C) c.3942+1G>C (n.3942+1G>C) n.1356+1G>C c.3858+1G>C (n.3858+1G>C) c.3099+1G>C (n.3099+1G>C) c.2187+1G>C (n.2187+1G>C) c.3948+1G>C (n.3948+1G>C) n.6734+1G>C c.4062+1G>C (n.4062+1G>C) | |
16 | g.48167495C>T | CA395803787 | ABCC11 | c.4056+1G>A (n.4056+1G>A) c.3942+1G>A (n.3942+1G>A) n.1356+1G>A c.3858+1G>A (n.3858+1G>A) c.3099+1G>A (n.3099+1G>A) c.2187+1G>A (n.2187+1G>A) c.3948+1G>A (n.3948+1G>A) n.6734+1G>A c.4062+1G>A (n.4062+1G>A) | |
16 | g.48167496C>A | CA8042941 | ABCC11 | c.4056G>T (p.Lys1352Asn) c.3942G>T (p.Lys1314Asn) n.1356G>T c.3858G>T (p.Lys1286Asn) c.3099G>T (p.Lys1033Asn) c.2187G>T (p.Lys729Asn) c.3948G>T (p.Lys1316Asn) n.6734G>T c.4062G>T (p.Lys1354Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167496C= | CA2220652202 | ABCC11 | c.4056G= (p.Lys1352=) c.3942G= (p.Lys1314=) n.1356G= c.3858G= (p.Lys1286=) c.3099G= (p.Lys1033=) c.2187G= (p.Lys729=) c.3948G= (p.Lys1316=) n.6734G= c.4062G= (p.Lys1354=) | |
16 | g.48167496C>G | CA395803796 | ABCC11 | c.4056G>C (p.Lys1352Asn) c.3942G>C (p.Lys1314Asn) n.1356G>C c.3858G>C (p.Lys1286Asn) c.3099G>C (p.Lys1033Asn) c.2187G>C (p.Lys729Asn) c.3948G>C (p.Lys1316Asn) n.6734G>C c.4062G>C (p.Lys1354Asn) | |
16 | g.48167496C>T | CA8042940 | ABCC11 | c.4056G>A (p.Lys1352=) c.3942G>A (p.Lys1314=) n.1356G>A c.3858G>A (p.Lys1286=) c.3099G>A (p.Lys1033=) c.2187G>A (p.Lys729=) c.3948G>A (p.Lys1316=) n.6734G>A c.4062G>A (p.Lys1354=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167497T>A | CA395803812 | ABCC11 | c.4055A>T (p.Lys1352Met) c.3941A>T (p.Lys1314Met) n.1355A>T c.3857A>T (p.Lys1286Met) c.3098A>T (p.Lys1033Met) c.2186A>T (p.Lys729Met) c.3947A>T (p.Lys1316Met) n.6733A>T c.4061A>T (p.Lys1354Met) | |
16 | g.48167497T>C | CA8042942 | ABCC11 | c.4055A>G (p.Lys1352Arg) c.3941A>G (p.Lys1314Arg) n.1355A>G c.3857A>G (p.Lys1286Arg) c.3098A>G (p.Lys1033Arg) c.2186A>G (p.Lys729Arg) c.3947A>G (p.Lys1316Arg) n.6733A>G c.4061A>G (p.Lys1354Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167497T>G | CA395803815 | ABCC11 | c.4055A>C (p.Lys1352Thr) c.3941A>C (p.Lys1314Thr) n.1355A>C c.3857A>C (p.Lys1286Thr) c.3098A>C (p.Lys1033Thr) c.2186A>C (p.Lys729Thr) c.3947A>C (p.Lys1316Thr) n.6733A>C c.4061A>C (p.Lys1354Thr) | dbSNP |
16 | g.48167497T= | CA2220652213 | ABCC11 | c.4055A= (p.Lys1352=) c.3941A= (p.Lys1314=) n.1355A= c.3857A= (p.Lys1286=) c.3098A= (p.Lys1033=) c.2186A= (p.Lys729=) c.3947A= (p.Lys1316=) n.6733A= c.4061A= (p.Lys1354=) | |
16 | g.48167498T>A | CA395803818 | ABCC11 | c.4054A>T (p.Lys1352Ter) c.3940A>T (p.Lys1314Ter) n.1354A>T c.3856A>T (p.Lys1286Ter) c.3097A>T (p.Lys1033Ter) c.2185A>T (p.Lys729Ter) c.3946A>T (p.Lys1316Ter) n.6732A>T c.4060A>T (p.Lys1354Ter) | |
16 | g.48167498T>C | CA395803821 | ABCC11 | c.4054A>G (p.Lys1352Glu) c.3940A>G (p.Lys1314Glu) n.1354A>G c.3856A>G (p.Lys1286Glu) c.3097A>G (p.Lys1033Glu) c.2185A>G (p.Lys729Glu) c.3946A>G (p.Lys1316Glu) n.6732A>G c.4060A>G (p.Lys1354Glu) | |
16 | g.48167498T>G | CA395803824 | ABCC11 | c.4054A>C (p.Lys1352Gln) c.3940A>C (p.Lys1314Gln) n.1354A>C c.3856A>C (p.Lys1286Gln) c.3097A>C (p.Lys1033Gln) c.2185A>C (p.Lys729Gln) c.3946A>C (p.Lys1316Gln) n.6732A>C c.4060A>C (p.Lys1354Gln) | COSMIC |
16 | g.48167499C>A | CA495442593 | ABCC11 | c.4053G>T (p.Gly1351=) c.3939G>T (p.Gly1313=) n.1353G>T c.3855G>T (p.Gly1285=) c.3096G>T (p.Gly1032=) c.2184G>T (p.Gly728=) c.3945G>T (p.Gly1315=) n.6731G>T c.4059G>T (p.Gly1353=) | |
16 | g.48167499C>G | CA495442595 | ABCC11 | c.4053G>C (p.Gly1351=) c.3939G>C (p.Gly1313=) n.1353G>C c.3855G>C (p.Gly1285=) c.3096G>C (p.Gly1032=) c.2184G>C (p.Gly728=) c.3945G>C (p.Gly1315=) n.6731G>C c.4059G>C (p.Gly1353=) | |
16 | g.48167499C>T | CA495442594 | ABCC11 | c.4053G>A (p.Gly1351=) c.3939G>A (p.Gly1313=) n.1353G>A c.3855G>A (p.Gly1285=) c.3096G>A (p.Gly1032=) c.2184G>A (p.Gly728=) c.3945G>A (p.Gly1315=) n.6731G>A c.4059G>A (p.Gly1353=) | |
16 | g.48167500C>A | CA395803827 | ABCC11 | c.4052G>T (p.Gly1351Val) c.3938G>T (p.Gly1313Val) n.1352G>T c.3854G>T (p.Gly1285Val) c.3095G>T (p.Gly1032Val) c.2183G>T (p.Gly728Val) c.3944G>T (p.Gly1315Val) n.6730G>T c.4058G>T (p.Gly1353Val) | |
16 | g.48167500C= | CA2220652222 | ABCC11 | c.4052G= (p.Gly1351=) c.3938G= (p.Gly1313=) n.1352G= c.3854G= (p.Gly1285=) c.3095G= (p.Gly1032=) c.2183G= (p.Gly728=) c.3944G= (p.Gly1315=) n.6730G= c.4058G= (p.Gly1353=) | |
16 | g.48167500C>G | CA395803830 | ABCC11 | c.4052G>C (p.Gly1351Ala) c.3938G>C (p.Gly1313Ala) n.1352G>C c.3854G>C (p.Gly1285Ala) c.3095G>C (p.Gly1032Ala) c.2183G>C (p.Gly728Ala) c.3944G>C (p.Gly1315Ala) n.6730G>C c.4058G>C (p.Gly1353Ala) | |
16 | g.48167500C>T | CA280260496 | ABCC11 | c.4052G>A (p.Gly1351Glu) c.3938G>A (p.Gly1313Glu) n.1352G>A c.3854G>A (p.Gly1285Glu) c.3095G>A (p.Gly1032Glu) c.2183G>A (p.Gly728Glu) c.3944G>A (p.Gly1315Glu) n.6730G>A c.4058G>A (p.Gly1353Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167501C>A | CA395803841 | ABCC11 | c.4051G>T (p.Gly1351Trp) c.3937G>T (p.Gly1313Trp) n.1351G>T c.3853G>T (p.Gly1285Trp) c.3094G>T (p.Gly1032Trp) c.2182G>T (p.Gly728Trp) c.3943G>T (p.Gly1315Trp) n.6729G>T c.4057G>T (p.Gly1353Trp) | |
16 | g.48167501C>G | CA395803839 | ABCC11 | c.4051G>C (p.Gly1351Arg) c.3937G>C (p.Gly1313Arg) n.1351G>C c.3853G>C (p.Gly1285Arg) c.3094G>C (p.Gly1032Arg) c.2182G>C (p.Gly728Arg) c.3943G>C (p.Gly1315Arg) n.6729G>C c.4057G>C (p.Gly1353Arg) | |
16 | g.48167501C>T | CA395803836 | ABCC11 | c.4051G>A (p.Gly1351Arg) c.3937G>A (p.Gly1313Arg) n.1351G>A c.3853G>A (p.Gly1285Arg) c.3094G>A (p.Gly1032Arg) c.2182G>A (p.Gly728Arg) c.3943G>A (p.Gly1315Arg) n.6729G>A c.4057G>A (p.Gly1353Arg) | |
16 | g.48167502A>C | CA395803843 | ABCC11 | c.4050T>G (p.Asn1350Lys) c.3936T>G (p.Asn1312Lys) n.1350T>G c.3852T>G (p.Asn1284Lys) c.3093T>G (p.Asn1031Lys) c.2181T>G (p.Asn727Lys) c.3942T>G (p.Asn1314Lys) n.6728T>G c.4056T>G (p.Asn1352Lys) | |
16 | g.48167502A>G | CA495442597 | ABCC11 | c.4050T>C (p.Asn1350=) c.3936T>C (p.Asn1312=) n.1350T>C c.3852T>C (p.Asn1284=) c.3093T>C (p.Asn1031=) c.2181T>C (p.Asn727=) c.3942T>C (p.Asn1314=) n.6728T>C c.4056T>C (p.Asn1352=) | |
16 | g.48167502A>T | CA395803846 | ABCC11 | c.4050T>A (p.Asn1350Lys) c.3936T>A (p.Asn1312Lys) n.1350T>A c.3852T>A (p.Asn1284Lys) c.3093T>A (p.Asn1031Lys) c.2181T>A (p.Asn727Lys) c.3942T>A (p.Asn1314Lys) n.6728T>A c.4056T>A (p.Asn1352Lys) | |
16 | g.48167503T>A | CA395803850 | ABCC11 | c.4049A>T (p.Asn1350Ile) c.3935A>T (p.Asn1312Ile) n.1349A>T c.3851A>T (p.Asn1284Ile) c.3092A>T (p.Asn1031Ile) c.2180A>T (p.Asn727Ile) c.3941A>T (p.Asn1314Ile) n.6727A>T c.4055A>T (p.Asn1352Ile) | |
16 | g.48167503T>C | CA395803853 | ABCC11 | c.4049A>G (p.Asn1350Ser) c.3935A>G (p.Asn1312Ser) n.1349A>G c.3851A>G (p.Asn1284Ser) c.3092A>G (p.Asn1031Ser) c.2180A>G (p.Asn727Ser) c.3941A>G (p.Asn1314Ser) n.6727A>G c.4055A>G (p.Asn1352Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.48167503T>G | CA395803860 | ABCC11 | c.4049A>C (p.Asn1350Thr) c.3935A>C (p.Asn1312Thr) n.1349A>C c.3851A>C (p.Asn1284Thr) c.3092A>C (p.Asn1031Thr) c.2180A>C (p.Asn727Thr) c.3941A>C (p.Asn1314Thr) n.6727A>C c.4055A>C (p.Asn1352Thr) | |
16 | g.48167503T= | CA2220652231 | ABCC11 | c.4049A= (p.Asn1350=) c.3935A= (p.Asn1312=) n.1349A= c.3851A= (p.Asn1284=) c.3092A= (p.Asn1031=) c.2180A= (p.Asn727=) c.3941A= (p.Asn1314=) n.6727A= c.4055A= (p.Asn1352=) | |
16 | g.48167504T>A | CA395803864 | ABCC11 | c.4048A>T (p.Asn1350Tyr) c.3934A>T (p.Asn1312Tyr) n.1348A>T c.3850A>T (p.Asn1284Tyr) c.3091A>T (p.Asn1031Tyr) c.2179A>T (p.Asn727Tyr) c.3940A>T (p.Asn1314Tyr) n.6726A>T c.4054A>T (p.Asn1352Tyr) | |
16 | g.48167504T>C | CA395803866 | ABCC11 | c.4048A>G (p.Asn1350Asp) c.3934A>G (p.Asn1312Asp) n.1348A>G c.3850A>G (p.Asn1284Asp) c.3091A>G (p.Asn1031Asp) c.2179A>G (p.Asn727Asp) c.3940A>G (p.Asn1314Asp) n.6726A>G c.4054A>G (p.Asn1352Asp) | |
16 | g.48167504T>G | CA395803870 | ABCC11 | c.4048A>C (p.Asn1350His) c.3934A>C (p.Asn1312His) n.1348A>C c.3850A>C (p.Asn1284His) c.3091A>C (p.Asn1031His) c.2179A>C (p.Asn727His) c.3940A>C (p.Asn1314His) n.6726A>C c.4054A>C (p.Asn1352His) | |
16 | g.48167505G>A | CA495442598 | ABCC11 | c.4047C>T (p.Gly1349=) c.3933C>T (p.Gly1311=) n.1347C>T c.3849C>T (p.Gly1283=) c.3090C>T (p.Gly1030=) c.2178C>T (p.Gly726=) c.3939C>T (p.Gly1313=) n.6725C>T c.4053C>T (p.Gly1351=) | dbSNP |
16 | g.48167505G>C | CA495442600 | ABCC11 | c.4047C>G (p.Gly1349=) c.3933C>G (p.Gly1311=) n.1347C>G c.3849C>G (p.Gly1283=) c.3090C>G (p.Gly1030=) c.2178C>G (p.Gly726=) c.3939C>G (p.Gly1313=) n.6725C>G c.4053C>G (p.Gly1351=) | |
16 | g.48167505G>T | CA495442601 | ABCC11 | c.4047C>A (p.Gly1349=) c.3933C>A (p.Gly1311=) n.1347C>A c.3849C>A (p.Gly1283=) c.3090C>A (p.Gly1030=) c.2178C>A (p.Gly726=) c.3939C>A (p.Gly1313=) n.6725C>A c.4053C>A (p.Gly1351=) | COSMIC |
16 | g.48167506C>A | CA395803874 | ABCC11 | c.4046G>T (p.Gly1349Val) c.3932G>T (p.Gly1311Val) n.1346G>T c.3848G>T (p.Gly1283Val) c.3089G>T (p.Gly1030Val) c.2177G>T (p.Gly726Val) c.3938G>T (p.Gly1313Val) n.6724G>T c.4052G>T (p.Gly1351Val) | |
16 | g.48167506C>G | CA395803876 | ABCC11 | c.4046G>C (p.Gly1349Ala) c.3932G>C (p.Gly1311Ala) n.1346G>C c.3848G>C (p.Gly1283Ala) c.3089G>C (p.Gly1030Ala) c.2177G>C (p.Gly726Ala) c.3938G>C (p.Gly1313Ala) n.6724G>C c.4052G>C (p.Gly1351Ala) | |
16 | g.48167506C>T | CA395803879 | ABCC11 | c.4046G>A (p.Gly1349Asp) c.3932G>A (p.Gly1311Asp) n.1346G>A c.3848G>A (p.Gly1283Asp) c.3089G>A (p.Gly1030Asp) c.2177G>A (p.Gly726Asp) c.3938G>A (p.Gly1313Asp) n.6724G>A c.4052G>A (p.Gly1351Asp) | dbSNP |
16 | g.48167507C>A | CA395803889 | ABCC11 | c.4045G>T (p.Gly1349Cys) c.3931G>T (p.Gly1311Cys) n.1345G>T c.3847G>T (p.Gly1283Cys) c.3088G>T (p.Gly1030Cys) c.2176G>T (p.Gly726Cys) c.3937G>T (p.Gly1313Cys) n.6723G>T c.4051G>T (p.Gly1351Cys) | |
16 | g.48167507C>G | CA395803892 | ABCC11 | c.4045G>C (p.Gly1349Arg) c.3931G>C (p.Gly1311Arg) n.1345G>C c.3847G>C (p.Gly1283Arg) c.3088G>C (p.Gly1030Arg) c.2176G>C (p.Gly726Arg) c.3937G>C (p.Gly1313Arg) n.6723G>C c.4051G>C (p.Gly1351Arg) | |
16 | g.48167507C>T | CA395803895 | ABCC11 | c.4045G>A (p.Gly1349Ser) c.3931G>A (p.Gly1311Ser) n.1345G>A c.3847G>A (p.Gly1283Ser) c.3088G>A (p.Gly1030Ser) c.2176G>A (p.Gly726Ser) c.3937G>A (p.Gly1313Ser) n.6723G>A c.4051G>A (p.Gly1351Ser) | dbSNP |
16 | g.48167508C>A | CA395803904 | ABCC11 | c.4044G>T (p.Met1348Ile) c.3930G>T (p.Met1310Ile) n.1344G>T c.3846G>T (p.Met1282Ile) c.3087G>T (p.Met1029Ile) c.2175G>T (p.Met725Ile) c.3936G>T (p.Met1312Ile) n.6722G>T c.4050G>T (p.Met1350Ile) | |
16 | g.48167508C>G | CA395803901 | ABCC11 | c.4044G>C (p.Met1348Ile) c.3930G>C (p.Met1310Ile) n.1344G>C c.3846G>C (p.Met1282Ile) c.3087G>C (p.Met1029Ile) c.2175G>C (p.Met725Ile) c.3936G>C (p.Met1312Ile) n.6722G>C c.4050G>C (p.Met1350Ile) | |
16 | g.48167508C>T | CA395803898 | ABCC11 | c.4044G>A (p.Met1348Ile) c.3930G>A (p.Met1310Ile) n.1344G>A c.3846G>A (p.Met1282Ile) c.3087G>A (p.Met1029Ile) c.2175G>A (p.Met725Ile) c.3936G>A (p.Met1312Ile) n.6722G>A c.4050G>A (p.Met1350Ile) | gnomAD v4 |
16 | g.48167509A>C | CA395803909 | ABCC11 | c.4043T>G (p.Met1348Arg) c.3929T>G (p.Met1310Arg) n.1343T>G c.3845T>G (p.Met1282Arg) c.3086T>G (p.Met1029Arg) c.2174T>G (p.Met725Arg) c.3935T>G (p.Met1312Arg) n.6721T>G c.4049T>G (p.Met1350Arg) | |
16 | g.48167509A>G | CA395803910 | ABCC11 | c.4043T>C (p.Met1348Thr) c.3929T>C (p.Met1310Thr) n.1343T>C c.3845T>C (p.Met1282Thr) c.3086T>C (p.Met1029Thr) c.2174T>C (p.Met725Thr) c.3935T>C (p.Met1312Thr) n.6721T>C c.4049T>C (p.Met1350Thr) | |
16 | g.48167509A>T | CA395803913 | ABCC11 | c.4043T>A (p.Met1348Lys) c.3929T>A (p.Met1310Lys) n.1343T>A c.3845T>A (p.Met1282Lys) c.3086T>A (p.Met1029Lys) c.2174T>A (p.Met725Lys) c.3935T>A (p.Met1312Lys) n.6721T>A c.4049T>A (p.Met1350Lys) | |
16 | g.48167510T>A | CA395803918 | ABCC11 | c.4042A>T (p.Met1348Leu) c.3928A>T (p.Met1310Leu) n.1342A>T c.3844A>T (p.Met1282Leu) c.3085A>T (p.Met1029Leu) c.2173A>T (p.Met725Leu) c.3934A>T (p.Met1312Leu) n.6720A>T c.4048A>T (p.Met1350Leu) | |
16 | g.48167510T>C | CA395803920 | ABCC11 | c.4042A>G (p.Met1348Val) c.3928A>G (p.Met1310Val) n.1342A>G c.3844A>G (p.Met1282Val) c.3085A>G (p.Met1029Val) c.2173A>G (p.Met725Val) c.3934A>G (p.Met1312Val) n.6720A>G c.4048A>G (p.Met1350Val) | |
16 | g.48167510T>G | CA395803923 | ABCC11 | c.4042A>C (p.Met1348Leu) c.3928A>C (p.Met1310Leu) n.1342A>C c.3844A>C (p.Met1282Leu) c.3085A>C (p.Met1029Leu) c.2173A>C (p.Met725Leu) c.3934A>C (p.Met1312Leu) n.6720A>C c.4048A>C (p.Met1350Leu) | |
16 | g.48167510_48167511delinsTA | CA2220652239 | ABCC11 | c.4041_4042delinsTA (p.Val1347=) c.3927_3928delinsTA (p.Val1309=) n.1341_1342delinsTA c.3843_3844delinsTA (p.Val1281=) c.3084_3085delinsTA (p.Val1028=) c.2172_2173delinsTA (p.Val724=) c.3933_3934delinsTA (p.Val1311=) n.6719_6720delinsTA c.4047_4048delinsTA (p.Val1349=) | |
16 | g.48167511A>C | CA495442606 | ABCC11 | c.4041T>G (p.Val1347=) c.3927T>G (p.Val1309=) n.1341T>G c.3843T>G (p.Val1281=) c.3084T>G (p.Val1028=) c.2172T>G (p.Val724=) c.3933T>G (p.Val1311=) n.6719T>G c.4047T>G (p.Val1349=) | |
16 | g.48167511A>G | CA495442608 | ABCC11 | c.4041T>C (p.Val1347=) c.3927T>C (p.Val1309=) n.1341T>C c.3843T>C (p.Val1281=) c.3084T>C (p.Val1028=) c.2172T>C (p.Val724=) c.3933T>C (p.Val1311=) n.6719T>C c.4047T>C (p.Val1349=) | |
16 | g.48167511A>T | CA495442609 | ABCC11 | c.4041T>A (p.Val1347=) c.3927T>A (p.Val1309=) n.1341T>A c.3843T>A (p.Val1281=) c.3084T>A (p.Val1028=) c.2172T>A (p.Val724=) c.3933T>A (p.Val1311=) n.6719T>A c.4047T>A (p.Val1349=) | |
16 | g.48167512del | CA2220652246 | ABCC11 | c.4041del (p.Met1348TrpfsTer7) c.3927del (p.Met1310TrpfsTer7) n.1341del c.3843del (p.Met1282TrpfsTer7) c.3084del (p.Met1029TrpfsTer7) c.2172del (p.Met725TrpfsTer7) c.3933del (p.Met1312TrpfsTer7) n.6719del c.4047del (p.Met1350TrpfsTer7) | dbSNP |
16 | g.48167512A= | CA2220652251 | ABCC11 | c.4040T= (p.Val1347=) c.3926T= (p.Val1309=) n.1340T= c.3842T= (p.Val1281=) c.3083T= (p.Val1028=) c.2171T= (p.Val724=) c.3932T= (p.Val1311=) n.6718T= c.4046T= (p.Val1349=) | |
16 | g.48167512A>C | CA395803927 | ABCC11 | c.4040T>G (p.Val1347Gly) c.3926T>G (p.Val1309Gly) n.1340T>G c.3842T>G (p.Val1281Gly) c.3083T>G (p.Val1028Gly) c.2171T>G (p.Val724Gly) c.3932T>G (p.Val1311Gly) n.6718T>G c.4046T>G (p.Val1349Gly) | |
16 | g.48167512A>G | CA395803930 | ABCC11 | c.4040T>C (p.Val1347Ala) c.3926T>C (p.Val1309Ala) n.1340T>C c.3842T>C (p.Val1281Ala) c.3083T>C (p.Val1028Ala) c.2171T>C (p.Val724Ala) c.3932T>C (p.Val1311Ala) n.6718T>C c.4046T>C (p.Val1349Ala) | dbSNP |
16 | g.48167512A>T | CA395803931 | ABCC11 | c.4040T>A (p.Val1347Asp) c.3926T>A (p.Val1309Asp) n.1340T>A c.3842T>A (p.Val1281Asp) c.3083T>A (p.Val1028Asp) c.2171T>A (p.Val724Asp) c.3932T>A (p.Val1311Asp) n.6718T>A c.4046T>A (p.Val1349Asp) | |
16 | g.48167513C>A | CA395803934 | ABCC11 | c.4039G>T (p.Val1347Phe) c.3925G>T (p.Val1309Phe) n.1339G>T c.3841G>T (p.Val1281Phe) c.3082G>T (p.Val1028Phe) c.2170G>T (p.Val724Phe) c.3931G>T (p.Val1311Phe) n.6717G>T c.4045G>T (p.Val1349Phe) | |
16 | g.48167513C>G | CA395803937 | ABCC11 | c.4039G>C (p.Val1347Leu) c.3925G>C (p.Val1309Leu) n.1339G>C c.3841G>C (p.Val1281Leu) c.3082G>C (p.Val1028Leu) c.2170G>C (p.Val724Leu) c.3931G>C (p.Val1311Leu) n.6717G>C c.4045G>C (p.Val1349Leu) | |
16 | g.48167513C>T | CA395803941 | ABCC11 | c.4039G>A (p.Val1347Ile) c.3925G>A (p.Val1309Ile) n.1339G>A c.3841G>A (p.Val1281Ile) c.3082G>A (p.Val1028Ile) c.2170G>A (p.Val724Ile) c.3931G>A (p.Val1311Ile) n.6717G>A c.4045G>A (p.Val1349Ile) | gnomAD v4 COSMIC |
16 | g.48167514C>A | CA495442613 | ABCC11 | c.4038G>T (p.Leu1346=) c.3924G>T (p.Leu1308=) n.1338G>T c.3840G>T (p.Leu1280=) c.3081G>T (p.Leu1027=) c.2169G>T (p.Leu723=) c.3930G>T (p.Leu1310=) n.6716G>T c.4044G>T (p.Leu1348=) | |
16 | g.48167514C>G | CA495442614 | ABCC11 | c.4038G>C (p.Leu1346=) c.3924G>C (p.Leu1308=) n.1338G>C c.3840G>C (p.Leu1280=) c.3081G>C (p.Leu1027=) c.2169G>C (p.Leu723=) c.3930G>C (p.Leu1310=) n.6716G>C c.4044G>C (p.Leu1348=) | |
16 | g.48167514C>T | CA495442615 | ABCC11 | c.4038G>A (p.Leu1346=) c.3924G>A (p.Leu1308=) n.1338G>A c.3840G>A (p.Leu1280=) c.3081G>A (p.Leu1027=) c.2169G>A (p.Leu723=) c.3930G>A (p.Leu1310=) n.6716G>A c.4044G>A (p.Leu1348=) | |
16 | g.48167515A>C | CA395803950 | ABCC11 | c.4037T>G (p.Leu1346Arg) c.3923T>G (p.Leu1308Arg) n.1337T>G c.3839T>G (p.Leu1280Arg) c.3080T>G (p.Leu1027Arg) c.2168T>G (p.Leu723Arg) c.3929T>G (p.Leu1310Arg) n.6715T>G c.4043T>G (p.Leu1348Arg) | |
16 | g.48167515A>G | CA395803947 | ABCC11 | c.4037T>C (p.Leu1346Pro) c.3923T>C (p.Leu1308Pro) n.1337T>C c.3839T>C (p.Leu1280Pro) c.3080T>C (p.Leu1027Pro) c.2168T>C (p.Leu723Pro) c.3929T>C (p.Leu1310Pro) n.6715T>C c.4043T>C (p.Leu1348Pro) | gnomAD v4 |
16 | g.48167515A>T | CA395803944 | ABCC11 | c.4037T>A (p.Leu1346Gln) c.3923T>A (p.Leu1308Gln) n.1337T>A c.3839T>A (p.Leu1280Gln) c.3080T>A (p.Leu1027Gln) c.2168T>A (p.Leu723Gln) c.3929T>A (p.Leu1310Gln) n.6715T>A c.4043T>A (p.Leu1348Gln) | |
16 | g.48167516G>A | CA495442617 | ABCC11 | c.4036C>T (p.Leu1346=) c.3922C>T (p.Leu1308=) n.1336C>T c.3838C>T (p.Leu1280=) c.3079C>T (p.Leu1027=) c.2167C>T (p.Leu723=) c.3928C>T (p.Leu1310=) n.6714C>T c.4042C>T (p.Leu1348=) | |
16 | g.48167516G>C | CA395803953 | ABCC11 | c.4036C>G (p.Leu1346Val) c.3922C>G (p.Leu1308Val) n.1336C>G c.3838C>G (p.Leu1280Val) c.3079C>G (p.Leu1027Val) c.2167C>G (p.Leu723Val) c.3928C>G (p.Leu1310Val) n.6714C>G c.4042C>G (p.Leu1348Val) | |
16 | g.48167516G>T | CA395803955 | ABCC11 | c.4036C>A (p.Leu1346Met) c.3922C>A (p.Leu1308Met) n.1336C>A c.3838C>A (p.Leu1280Met) c.3079C>A (p.Leu1027Met) c.2167C>A (p.Leu723Met) c.3928C>A (p.Leu1310Met) n.6714C>A c.4042C>A (p.Leu1348Met) | |
16 | g.48167517G>A | CA495442618 | ABCC11 | c.4035C>T (p.Ile1345=) c.3921C>T (p.Ile1307=) n.1335C>T c.3837C>T (p.Ile1279=) c.3078C>T (p.Ile1026=) c.2166C>T (p.Ile722=) c.3927C>T (p.Ile1309=) n.6713C>T c.4041C>T (p.Ile1347=) | |
16 | g.48167517G>C | CA395803959 | ABCC11 | c.4035C>G (p.Ile1345Met) c.3921C>G (p.Ile1307Met) n.1335C>G c.3837C>G (p.Ile1279Met) c.3078C>G (p.Ile1026Met) c.2166C>G (p.Ile722Met) c.3927C>G (p.Ile1309Met) n.6713C>G c.4041C>G (p.Ile1347Met) | dbSNP |
16 | g.48167517G>T | CA495442619 | ABCC11 | c.4035C>A (p.Ile1345=) c.3921C>A (p.Ile1307=) n.1335C>A c.3837C>A (p.Ile1279=) c.3078C>A (p.Ile1026=) c.2166C>A (p.Ile722=) c.3927C>A (p.Ile1309=) n.6713C>A c.4041C>A (p.Ile1347=) | |
16 | g.48167518A= | CA2220652255 | ABCC11 | c.4034T= (p.Ile1345=) c.3920T= (p.Ile1307=) n.1334T= c.3836T= (p.Ile1279=) c.3077T= (p.Ile1026=) c.2165T= (p.Ile722=) c.3926T= (p.Ile1309=) n.6712T= c.4040T= (p.Ile1347=) | |
16 | g.48167518A>C | CA395803962 | ABCC11 | c.4034T>G (p.Ile1345Ser) c.3920T>G (p.Ile1307Ser) n.1334T>G c.3836T>G (p.Ile1279Ser) c.3077T>G (p.Ile1026Ser) c.2165T>G (p.Ile722Ser) c.3926T>G (p.Ile1309Ser) n.6712T>G c.4040T>G (p.Ile1347Ser) | |
16 | g.48167518A>G | CA8042943 | ABCC11 | c.4034T>C (p.Ile1345Thr) c.3920T>C (p.Ile1307Thr) n.1334T>C c.3836T>C (p.Ile1279Thr) c.3077T>C (p.Ile1026Thr) c.2165T>C (p.Ile722Thr) c.3926T>C (p.Ile1309Thr) n.6712T>C c.4040T>C (p.Ile1347Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167518A>T | CA395803968 | ABCC11 | c.4034T>A (p.Ile1345Asn) c.3920T>A (p.Ile1307Asn) n.1334T>A c.3836T>A (p.Ile1279Asn) c.3077T>A (p.Ile1026Asn) c.2165T>A (p.Ile722Asn) c.3926T>A (p.Ile1309Asn) n.6712T>A c.4040T>A (p.Ile1347Asn) | |
16 | g.48167519T>A | CA395803977 | ABCC11 | c.4033A>T (p.Ile1345Phe) c.3919A>T (p.Ile1307Phe) n.1333A>T c.3835A>T (p.Ile1279Phe) c.3076A>T (p.Ile1026Phe) c.2164A>T (p.Ile722Phe) c.3925A>T (p.Ile1309Phe) n.6711A>T c.4039A>T (p.Ile1347Phe) | |
16 | g.48167519T>C | CA395803972 | ABCC11 | c.4033A>G (p.Ile1345Val) c.3919A>G (p.Ile1307Val) n.1333A>G c.3835A>G (p.Ile1279Val) c.3076A>G (p.Ile1026Val) c.2164A>G (p.Ile722Val) c.3925A>G (p.Ile1309Val) n.6711A>G c.4039A>G (p.Ile1347Val) | |
16 | g.48167519T>G | CA395803975 | ABCC11 | c.4033A>C (p.Ile1345Leu) c.3919A>C (p.Ile1307Leu) n.1333A>C c.3835A>C (p.Ile1279Leu) c.3076A>C (p.Ile1026Leu) c.2164A>C (p.Ile722Leu) c.3925A>C (p.Ile1309Leu) n.6711A>C c.4039A>C (p.Ile1347Leu) | |
16 | g.48167520G>A | CA495442621 | ABCC11 | c.4032C>T (p.His1344=) c.3918C>T (p.His1306=) n.1332C>T c.3834C>T (p.His1278=) c.3075C>T (p.His1025=) c.2163C>T (p.His721=) c.3924C>T (p.His1308=) n.6710C>T c.4038C>T (p.His1346=) | gnomAD v4 |
16 | g.48167520G>C | CA395803979 | ABCC11 | c.4032C>G (p.His1344Gln) c.3918C>G (p.His1306Gln) n.1332C>G c.3834C>G (p.His1278Gln) c.3075C>G (p.His1025Gln) c.2163C>G (p.His721Gln) c.3924C>G (p.His1308Gln) n.6710C>G c.4038C>G (p.His1346Gln) | dbSNP |
16 | g.48167520G>T | CA395803984 | ABCC11 | c.4032C>A (p.His1344Gln) c.3918C>A (p.His1306Gln) n.1332C>A c.3834C>A (p.His1278Gln) c.3075C>A (p.His1025Gln) c.2163C>A (p.His721Gln) c.3924C>A (p.His1308Gln) n.6710C>A c.4038C>A (p.His1346Gln) | |
16 | g.48167521T>A | CA395803987 | ABCC11 | c.4031A>T (p.His1344Leu) c.3917A>T (p.His1306Leu) n.1331A>T c.3833A>T (p.His1278Leu) c.3074A>T (p.His1025Leu) c.2162A>T (p.His721Leu) c.3923A>T (p.His1308Leu) n.6709A>T c.4037A>T (p.His1346Leu) | gnomAD v4 |
16 | g.48167521T>C | CA8042944 | ABCC11 | c.4031A>G (p.His1344Arg) c.3917A>G (p.His1306Arg) n.1331A>G c.3833A>G (p.His1278Arg) c.3074A>G (p.His1025Arg) c.2162A>G (p.His721Arg) c.3923A>G (p.His1308Arg) n.6709A>G c.4037A>G (p.His1346Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167521T>G | CA395803992 | ABCC11 | c.4031A>C (p.His1344Pro) c.3917A>C (p.His1306Pro) n.1331A>C c.3833A>C (p.His1278Pro) c.3074A>C (p.His1025Pro) c.2162A>C (p.His721Pro) c.3923A>C (p.His1308Pro) n.6709A>C c.4037A>C (p.His1346Pro) | |
16 | g.48167521T= | CA2220652264 | ABCC11 | c.4031A= (p.His1344=) c.3917A= (p.His1306=) n.1331A= c.3833A= (p.His1278=) c.3074A= (p.His1025=) c.2162A= (p.His721=) c.3923A= (p.His1308=) n.6709A= c.4037A= (p.His1346=) | |
16 | g.48167522G>A | CA8042945 | ABCC11 | c.4030C>T (p.His1344Tyr) c.3916C>T (p.His1306Tyr) n.1330C>T c.3832C>T (p.His1278Tyr) c.3073C>T (p.His1025Tyr) c.2161C>T (p.His721Tyr) c.3922C>T (p.His1308Tyr) n.6708C>T c.4036C>T (p.His1346Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167522G>C | CA395804002 | ABCC11 | c.4030C>G (p.His1344Asp) c.3916C>G (p.His1306Asp) n.1330C>G c.3832C>G (p.His1278Asp) c.3073C>G (p.His1025Asp) c.2161C>G (p.His721Asp) c.3922C>G (p.His1308Asp) n.6708C>G c.4036C>G (p.His1346Asp) | |
16 | g.48167522G= | CA2220652274 | ABCC11 | c.4030C= (p.His1344=) c.3916C= (p.His1306=) n.1330C= c.3832C= (p.His1278=) c.3073C= (p.His1025=) c.2161C= (p.His721=) c.3922C= (p.His1308=) n.6708C= c.4036C= (p.His1346=) | |
16 | g.48167522G>T | CA395803998 | ABCC11 | c.4030C>A (p.His1344Asn) c.3916C>A (p.His1306Asn) n.1330C>A c.3832C>A (p.His1278Asn) c.3073C>A (p.His1025Asn) c.2161C>A (p.His721Asn) c.3922C>A (p.His1308Asn) n.6708C>A c.4036C>A (p.His1346Asn) | |
16 | g.48167523G>A | CA495442623 | ABCC11 | c.4029C>T (p.Asp1343=) c.3915C>T (p.Asp1305=) n.1329C>T c.3831C>T (p.Asp1277=) c.3072C>T (p.Asp1024=) c.2160C>T (p.Asp720=) c.3921C>T (p.Asp1307=) n.6707C>T c.4035C>T (p.Asp1345=) | |
16 | g.48167523G>C | CA395804005 | ABCC11 | c.4029C>G (p.Asp1343Glu) c.3915C>G (p.Asp1305Glu) n.1329C>G c.3831C>G (p.Asp1277Glu) c.3072C>G (p.Asp1024Glu) c.2160C>G (p.Asp720Glu) c.3921C>G (p.Asp1307Glu) n.6707C>G c.4035C>G (p.Asp1345Glu) | |
16 | g.48167523G>T | CA395804008 | ABCC11 | c.4029C>A (p.Asp1343Glu) c.3915C>A (p.Asp1305Glu) n.1329C>A c.3831C>A (p.Asp1277Glu) c.3072C>A (p.Asp1024Glu) c.2160C>A (p.Asp720Glu) c.3921C>A (p.Asp1307Glu) n.6707C>A c.4035C>A (p.Asp1345Glu) | |
16 | g.48167524T>A | CA395804011 | ABCC11 | c.4028A>T (p.Asp1343Val) c.3914A>T (p.Asp1305Val) n.1328A>T c.3830A>T (p.Asp1277Val) c.3071A>T (p.Asp1024Val) c.2159A>T (p.Asp720Val) c.3920A>T (p.Asp1307Val) n.6706A>T c.4034A>T (p.Asp1345Val) | dbSNP |
16 | g.48167524T>C | CA395804014 | ABCC11 | c.4028A>G (p.Asp1343Gly) c.3914A>G (p.Asp1305Gly) n.1328A>G c.3830A>G (p.Asp1277Gly) c.3071A>G (p.Asp1024Gly) c.2159A>G (p.Asp720Gly) c.3920A>G (p.Asp1307Gly) n.6706A>G c.4034A>G (p.Asp1345Gly) | |
16 | g.48167524T>G | CA395804019 | ABCC11 | c.4028A>C (p.Asp1343Ala) c.3914A>C (p.Asp1305Ala) n.1328A>C c.3830A>C (p.Asp1277Ala) c.3071A>C (p.Asp1024Ala) c.2159A>C (p.Asp720Ala) c.3920A>C (p.Asp1307Ala) n.6706A>C c.4034A>C (p.Asp1345Ala) | |
16 | g.48167525C>A | CA395804031 | ABCC11 | c.4027G>T (p.Asp1343Tyr) c.3913G>T (p.Asp1305Tyr) n.1327G>T c.3829G>T (p.Asp1277Tyr) c.3070G>T (p.Asp1024Tyr) c.2158G>T (p.Asp720Tyr) c.3919G>T (p.Asp1307Tyr) n.6705G>T c.4033G>T (p.Asp1345Tyr) | |
16 | g.48167525C= | CA2220652292 | ABCC11 | c.4027G= (p.Asp1343=) c.3913G= (p.Asp1305=) n.1327G= c.3829G= (p.Asp1277=) c.3070G= (p.Asp1024=) c.2158G= (p.Asp720=) c.3919G= (p.Asp1307=) n.6705G= c.4033G= (p.Asp1345=) | |
16 | g.48167525C>G | CA395804034 | ABCC11 | c.4027G>C (p.Asp1343His) c.3913G>C (p.Asp1305His) n.1327G>C c.3829G>C (p.Asp1277His) c.3070G>C (p.Asp1024His) c.2158G>C (p.Asp720His) c.3919G>C (p.Asp1307His) n.6705G>C c.4033G>C (p.Asp1345His) | |
16 | g.48167525C>T | CA8042946 | ABCC11 | c.4027G>A (p.Asp1343Asn) c.3913G>A (p.Asp1305Asn) n.1327G>A c.3829G>A (p.Asp1277Asn) c.3070G>A (p.Asp1024Asn) c.2158G>A (p.Asp720Asn) c.3919G>A (p.Asp1307Asn) n.6705G>A c.4033G>A (p.Asp1345Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167526A>C | CA395804040 | ABCC11 | c.4026T>G (p.Cys1342Trp) c.3912T>G (p.Cys1304Trp) n.1326T>G c.3828T>G (p.Cys1276Trp) c.3069T>G (p.Cys1023Trp) c.2157T>G (p.Cys719Trp) c.3918T>G (p.Cys1306Trp) n.6704T>G c.4032T>G (p.Cys1344Trp) | |
16 | g.48167526A>G | CA495442626 | ABCC11 | c.4026T>C (p.Cys1342=) c.3912T>C (p.Cys1304=) n.1326T>C c.3828T>C (p.Cys1276=) c.3069T>C (p.Cys1023=) c.2157T>C (p.Cys719=) c.3918T>C (p.Cys1306=) n.6704T>C c.4032T>C (p.Cys1344=) | COSMIC |
16 | g.48167526A>T | CA395804041 | ABCC11 | c.4026T>A (p.Cys1342Ter) c.3912T>A (p.Cys1304Ter) n.1326T>A c.3828T>A (p.Cys1276Ter) c.3069T>A (p.Cys1023Ter) c.2157T>A (p.Cys719Ter) c.3918T>A (p.Cys1306Ter) n.6704T>A c.4032T>A (p.Cys1344Ter) | |
16 | g.48167527C>A | CA395804042 | ABCC11 | c.4025G>T (p.Cys1342Phe) c.3911G>T (p.Cys1304Phe) n.1325G>T c.3827G>T (p.Cys1276Phe) c.3068G>T (p.Cys1023Phe) c.2156G>T (p.Cys719Phe) c.3917G>T (p.Cys1306Phe) n.6703G>T c.4031G>T (p.Cys1344Phe) | |
16 | g.48167527C= | CA2220652297 | ABCC11 | c.4025G= (p.Cys1342=) c.3911G= (p.Cys1304=) n.1325G= c.3827G= (p.Cys1276=) c.3068G= (p.Cys1023=) c.2156G= (p.Cys719=) c.3917G= (p.Cys1306=) n.6703G= c.4031G= (p.Cys1344=) | |
16 | g.48167527C>G | CA395804044 | ABCC11 | c.4025G>C (p.Cys1342Ser) c.3911G>C (p.Cys1304Ser) n.1325G>C c.3827G>C (p.Cys1276Ser) c.3068G>C (p.Cys1023Ser) c.2156G>C (p.Cys719Ser) c.3917G>C (p.Cys1306Ser) n.6703G>C c.4031G>C (p.Cys1344Ser) | |
16 | g.48167527C>T | CA395804043 | ABCC11 | c.4025G>A (p.Cys1342Tyr) c.3911G>A (p.Cys1304Tyr) n.1325G>A c.3827G>A (p.Cys1276Tyr) c.3068G>A (p.Cys1023Tyr) c.2156G>A (p.Cys719Tyr) c.3917G>A (p.Cys1306Tyr) n.6703G>A c.4031G>A (p.Cys1344Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167527_48167528delinsCA | CA2220652303 | ABCC11 | c.4024_4025delinsTG (p.Cys1342=) c.3910_3911delinsTG (p.Cys1304=) n.1324_1325delinsTG c.3826_3827delinsTG (p.Cys1276=) c.3067_3068delinsTG (p.Cys1023=) c.2155_2156delinsTG (p.Cys719=) c.3916_3917delinsTG (p.Cys1306=) n.6702_6703delinsTG c.4030_4031delinsTG (p.Cys1344=) | |
16 | g.48167528del | CA2220652310 | ABCC11 | c.4024del (p.Cys1342ValfsTer13) c.3910del (p.Cys1304ValfsTer13) n.1324del c.3826del (p.Cys1276ValfsTer13) c.3067del (p.Cys1023ValfsTer13) c.2155del (p.Cys719ValfsTer13) c.3916del (p.Cys1306ValfsTer13) n.6702del c.4030del (p.Cys1344ValfsTer13) | dbSNP |
16 | g.48167528A>C | CA395804047 | ABCC11 | c.4024T>G (p.Cys1342Gly) c.3910T>G (p.Cys1304Gly) n.1324T>G c.3826T>G (p.Cys1276Gly) c.3067T>G (p.Cys1023Gly) c.2155T>G (p.Cys719Gly) c.3916T>G (p.Cys1306Gly) n.6702T>G c.4030T>G (p.Cys1344Gly) | |
16 | g.48167528A>G | CA395804054 | ABCC11 | c.4024T>C (p.Cys1342Arg) c.3910T>C (p.Cys1304Arg) n.1324T>C c.3826T>C (p.Cys1276Arg) c.3067T>C (p.Cys1023Arg) c.2155T>C (p.Cys719Arg) c.3916T>C (p.Cys1306Arg) n.6702T>C c.4030T>C (p.Cys1344Arg) | gnomAD v4 |
16 | g.48167528A>T | CA395804051 | ABCC11 | c.4024T>A (p.Cys1342Ser) c.3910T>A (p.Cys1304Ser) n.1324T>A c.3826T>A (p.Cys1276Ser) c.3067T>A (p.Cys1023Ser) c.2155T>A (p.Cys719Ser) c.3916T>A (p.Cys1306Ser) n.6702T>A c.4030T>A (p.Cys1344Ser) | |
16 | g.48167529G>A | CA495442627 | ABCC11 | c.4023C>T (p.Asn1341=) c.3909C>T (p.Asn1303=) n.1323C>T c.3825C>T (p.Asn1275=) c.3066C>T (p.Asn1022=) c.2154C>T (p.Asn718=) c.3915C>T (p.Asn1305=) n.6701C>T c.4029C>T (p.Asn1343=) | dbSNP COSMIC |
16 | g.48167529G>C | CA8042947 | ABCC11 | c.4023C>G (p.Asn1341Lys) c.3909C>G (p.Asn1303Lys) n.1323C>G c.3825C>G (p.Asn1275Lys) c.3066C>G (p.Asn1022Lys) c.2154C>G (p.Asn718Lys) c.3915C>G (p.Asn1305Lys) n.6701C>G c.4029C>G (p.Asn1343Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167529G= | CA2220652315 | ABCC11 | c.4023C= (p.Asn1341=) c.3909C= (p.Asn1303=) n.1323C= c.3825C= (p.Asn1275=) c.3066C= (p.Asn1022=) c.2154C= (p.Asn718=) c.3915C= (p.Asn1305=) n.6701C= c.4029C= (p.Asn1343=) | |
16 | g.48167529G>T | CA395804056 | ABCC11 | c.4023C>A (p.Asn1341Lys) c.3909C>A (p.Asn1303Lys) n.1323C>A c.3825C>A (p.Asn1275Lys) c.3066C>A (p.Asn1022Lys) c.2154C>A (p.Asn718Lys) c.3915C>A (p.Asn1305Lys) n.6701C>A c.4029C>A (p.Asn1343Lys) | |
16 | g.48167530T>A | CA395804064 | ABCC11 | c.4022A>T (p.Asn1341Ile) c.3908A>T (p.Asn1303Ile) n.1322A>T c.3824A>T (p.Asn1275Ile) c.3065A>T (p.Asn1022Ile) c.2153A>T (p.Asn718Ile) c.3914A>T (p.Asn1305Ile) n.6700A>T c.4028A>T (p.Asn1343Ile) | |
16 | g.48167530T>C | CA395804069 | ABCC11 | c.4022A>G (p.Asn1341Ser) c.3908A>G (p.Asn1303Ser) n.1322A>G c.3824A>G (p.Asn1275Ser) c.3065A>G (p.Asn1022Ser) c.2153A>G (p.Asn718Ser) c.3914A>G (p.Asn1305Ser) n.6700A>G c.4028A>G (p.Asn1343Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.48167530T>G | CA395804065 | ABCC11 | c.4022A>C (p.Asn1341Thr) c.3908A>C (p.Asn1303Thr) n.1322A>C c.3824A>C (p.Asn1275Thr) c.3065A>C (p.Asn1022Thr) c.2153A>C (p.Asn718Thr) c.3914A>C (p.Asn1305Thr) n.6700A>C c.4028A>C (p.Asn1343Thr) | |
16 | g.48167530T= | CA2220652317 | ABCC11 | c.4022A= (p.Asn1341=) c.3908A= (p.Asn1303=) n.1322A= c.3824A= (p.Asn1275=) c.3065A= (p.Asn1022=) c.2153A= (p.Asn718=) c.3914A= (p.Asn1305=) n.6700A= c.4028A= (p.Asn1343=) | |
16 | g.48167531T>A | CA395804072 | ABCC11 | c.4021A>T (p.Asn1341Tyr) c.3907A>T (p.Asn1303Tyr) n.1321A>T c.3823A>T (p.Asn1275Tyr) c.3064A>T (p.Asn1022Tyr) c.2152A>T (p.Asn718Tyr) c.3913A>T (p.Asn1305Tyr) n.6699A>T c.4027A>T (p.Asn1343Tyr) | |
16 | g.48167531T>C | CA395804076 | ABCC11 | c.4021A>G (p.Asn1341Asp) c.3907A>G (p.Asn1303Asp) n.1321A>G c.3823A>G (p.Asn1275Asp) c.3064A>G (p.Asn1022Asp) c.2152A>G (p.Asn718Asp) c.3913A>G (p.Asn1305Asp) n.6699A>G c.4027A>G (p.Asn1343Asp) | |
16 | g.48167531T>G | CA395804073 | ABCC11 | c.4021A>C (p.Asn1341His) c.3907A>C (p.Asn1303His) n.1321A>C c.3823A>C (p.Asn1275His) c.3064A>C (p.Asn1022His) c.2152A>C (p.Asn718His) c.3913A>C (p.Asn1305His) n.6699A>C c.4027A>C (p.Asn1343His) | |
16 | g.48167532C>A | CA495442628 | ABCC11 | c.4020G>T (p.Leu1340=) c.3906G>T (p.Leu1302=) n.1320G>T c.3822G>T (p.Leu1274=) c.3063G>T (p.Leu1021=) c.2151G>T (p.Leu717=) c.3912G>T (p.Leu1304=) n.6698G>T c.4026G>T (p.Leu1342=) | |
16 | g.48167532C>G | CA495442629 | ABCC11 | c.4020G>C (p.Leu1340=) c.3906G>C (p.Leu1302=) n.1320G>C c.3822G>C (p.Leu1274=) c.3063G>C (p.Leu1021=) c.2151G>C (p.Leu717=) c.3912G>C (p.Leu1304=) n.6698G>C c.4026G>C (p.Leu1342=) | |
16 | g.48167532C>T | CA495442630 | ABCC11 | c.4020G>A (p.Leu1340=) c.3906G>A (p.Leu1302=) n.1320G>A c.3822G>A (p.Leu1274=) c.3063G>A (p.Leu1021=) c.2151G>A (p.Leu717=) c.3912G>A (p.Leu1304=) n.6698G>A c.4026G>A (p.Leu1342=) | |
16 | g.48167533A>C | CA395804080 | ABCC11 | c.4019T>G (p.Leu1340Arg) c.3905T>G (p.Leu1302Arg) n.1319T>G c.3821T>G (p.Leu1274Arg) c.3062T>G (p.Leu1021Arg) c.2150T>G (p.Leu717Arg) c.3911T>G (p.Leu1304Arg) n.6697T>G c.4025T>G (p.Leu1342Arg) | |
16 | g.48167533A>G | CA395804082 | ABCC11 | c.4019T>C (p.Leu1340Pro) c.3905T>C (p.Leu1302Pro) n.1319T>C c.3821T>C (p.Leu1274Pro) c.3062T>C (p.Leu1021Pro) c.2150T>C (p.Leu717Pro) c.3911T>C (p.Leu1304Pro) n.6697T>C c.4025T>C (p.Leu1342Pro) | |
16 | g.48167533A>T | CA395804086 | ABCC11 | c.4019T>A (p.Leu1340Gln) c.3905T>A (p.Leu1302Gln) n.1319T>A c.3821T>A (p.Leu1274Gln) c.3062T>A (p.Leu1021Gln) c.2150T>A (p.Leu717Gln) c.3911T>A (p.Leu1304Gln) n.6697T>A c.4025T>A (p.Leu1342Gln) | |
16 | g.48167534G>A | CA495442631 | ABCC11 | c.4018C>T (p.Leu1340=) c.3904C>T (p.Leu1302=) n.1318C>T c.3820C>T (p.Leu1274=) c.3061C>T (p.Leu1021=) c.2149C>T (p.Leu717=) c.3910C>T (p.Leu1304=) n.6696C>T c.4024C>T (p.Leu1342=) | dbSNP |
16 | g.48167534G>C | CA395804089 | ABCC11 | c.4018C>G (p.Leu1340Val) c.3904C>G (p.Leu1302Val) n.1318C>G c.3820C>G (p.Leu1274Val) c.3061C>G (p.Leu1021Val) c.2149C>G (p.Leu717Val) c.3910C>G (p.Leu1304Val) n.6696C>G c.4024C>G (p.Leu1342Val) | |
16 | g.48167534G>T | CA395804091 | ABCC11 | c.4018C>A (p.Leu1340Met) c.3904C>A (p.Leu1302Met) n.1318C>A c.3820C>A (p.Leu1274Met) c.3061C>A (p.Leu1021Met) c.2149C>A (p.Leu717Met) c.3910C>A (p.Leu1304Met) n.6696C>A c.4024C>A (p.Leu1342Met) | |
16 | g.48167535C>A | CA8042948 | ABCC11 | c.4017G>T (p.Val1339=) c.3903G>T (p.Val1301=) n.1317G>T c.3819G>T (p.Val1273=) c.3060G>T (p.Val1020=) c.2148G>T (p.Val716=) c.3909G>T (p.Val1303=) n.6695G>T c.4023G>T (p.Val1341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167535C= | CA2220652319 | ABCC11 | c.4017G= (p.Val1339=) c.3903G= (p.Val1301=) n.1317G= c.3819G= (p.Val1273=) c.3060G= (p.Val1020=) c.2148G= (p.Val716=) c.3909G= (p.Val1303=) n.6695G= c.4023G= (p.Val1341=) | |
16 | g.48167535C>G | CA495442632 | ABCC11 | c.4017G>C (p.Val1339=) c.3903G>C (p.Val1301=) n.1317G>C c.3819G>C (p.Val1273=) c.3060G>C (p.Val1020=) c.2148G>C (p.Val716=) c.3909G>C (p.Val1303=) n.6695G>C c.4023G>C (p.Val1341=) | |
16 | g.48167535C>T | CA495442633 | ABCC11 | c.4017G>A (p.Val1339=) c.3903G>A (p.Val1301=) n.1317G>A c.3819G>A (p.Val1273=) c.3060G>A (p.Val1020=) c.2148G>A (p.Val716=) c.3909G>A (p.Val1303=) n.6695G>A c.4023G>A (p.Val1341=) | |
16 | g.48167536A>C | CA395804099 | ABCC11 | c.4016T>G (p.Val1339Gly) c.3902T>G (p.Val1301Gly) n.1316T>G c.3818T>G (p.Val1273Gly) c.3059T>G (p.Val1020Gly) c.2147T>G (p.Val716Gly) c.3908T>G (p.Val1303Gly) n.6694T>G c.4022T>G (p.Val1341Gly) | |
16 | g.48167536A>G | CA395804102 | ABCC11 | c.4016T>C (p.Val1339Ala) c.3902T>C (p.Val1301Ala) n.1316T>C c.3818T>C (p.Val1273Ala) c.3059T>C (p.Val1020Ala) c.2147T>C (p.Val716Ala) c.3908T>C (p.Val1303Ala) n.6694T>C c.4022T>C (p.Val1341Ala) | |
16 | g.48167536A>T | CA395804105 | ABCC11 | c.4016T>A (p.Val1339Glu) c.3902T>A (p.Val1301Glu) n.1316T>A c.3818T>A (p.Val1273Glu) c.3059T>A (p.Val1020Glu) c.2147T>A (p.Val716Glu) c.3908T>A (p.Val1303Glu) n.6694T>A c.4022T>A (p.Val1341Glu) | |
16 | g.48167537C>A | CA395804109 | ABCC11 | c.4015G>T (p.Val1339Leu) c.3901G>T (p.Val1301Leu) n.1315G>T c.3817G>T (p.Val1273Leu) c.3058G>T (p.Val1020Leu) c.2146G>T (p.Val716Leu) c.3907G>T (p.Val1303Leu) n.6693G>T c.4021G>T (p.Val1341Leu) | |
16 | g.48167537C>G | CA395804111 | ABCC11 | c.4015G>C (p.Val1339Leu) c.3901G>C (p.Val1301Leu) n.1315G>C c.3817G>C (p.Val1273Leu) c.3058G>C (p.Val1020Leu) c.2146G>C (p.Val716Leu) c.3907G>C (p.Val1303Leu) n.6693G>C c.4021G>C (p.Val1341Leu) | |
16 | g.48167537C>T | CA395804113 | ABCC11 | c.4015G>A (p.Val1339Met) c.3901G>A (p.Val1301Met) n.1315G>A c.3817G>A (p.Val1273Met) c.3058G>A (p.Val1020Met) c.2146G>A (p.Val716Met) c.3907G>A (p.Val1303Met) n.6693G>A c.4021G>A (p.Val1341Met) | dbSNP |
16 | g.48167538A= | CA2220652323 | ABCC11 | c.4014T= (p.Thr1338=) c.3900T= (p.Thr1300=) n.1314T= c.3816T= (p.Thr1272=) c.3057T= (p.Thr1019=) c.2145T= (p.Thr715=) c.3906T= (p.Thr1302=) n.6692T= c.4020T= (p.Thr1340=) | |
16 | g.48167538A>C | CA495442634 | ABCC11 | c.4014T>G (p.Thr1338=) c.3900T>G (p.Thr1300=) n.1314T>G c.3816T>G (p.Thr1272=) c.3057T>G (p.Thr1019=) c.2145T>G (p.Thr715=) c.3906T>G (p.Thr1302=) n.6692T>G c.4020T>G (p.Thr1340=) | |
16 | g.48167538A>G | CA495442635 | ABCC11 | c.4014T>C (p.Thr1338=) c.3900T>C (p.Thr1300=) n.1314T>C c.3816T>C (p.Thr1272=) c.3057T>C (p.Thr1019=) c.2145T>C (p.Thr715=) c.3906T>C (p.Thr1302=) n.6692T>C c.4020T>C (p.Thr1340=) | dbSNP |
16 | g.48167538A>T | CA495442636 | ABCC11 | c.4014T>A (p.Thr1338=) c.3900T>A (p.Thr1300=) n.1314T>A c.3816T>A (p.Thr1272=) c.3057T>A (p.Thr1019=) c.2145T>A (p.Thr715=) c.3906T>A (p.Thr1302=) n.6692T>A c.4020T>A (p.Thr1340=) | |
16 | g.48167539G>A | CA395804115 | ABCC11 | c.4013C>T (p.Thr1338Ile) c.3899C>T (p.Thr1300Ile) n.1313C>T c.3815C>T (p.Thr1272Ile) c.3056C>T (p.Thr1019Ile) c.2144C>T (p.Thr715Ile) c.3905C>T (p.Thr1302Ile) n.6691C>T c.4019C>T (p.Thr1340Ile) | gnomAD v4 |
16 | g.48167539G>C | CA395804120 | ABCC11 | c.4013C>G (p.Thr1338Ser) c.3899C>G (p.Thr1300Ser) n.1313C>G c.3815C>G (p.Thr1272Ser) c.3056C>G (p.Thr1019Ser) c.2144C>G (p.Thr715Ser) c.3905C>G (p.Thr1302Ser) n.6691C>G c.4019C>G (p.Thr1340Ser) | |
16 | g.48167539G>T | CA395804117 | ABCC11 | c.4013C>A (p.Thr1338Asn) c.3899C>A (p.Thr1300Asn) n.1313C>A c.3815C>A (p.Thr1272Asn) c.3056C>A (p.Thr1019Asn) c.2144C>A (p.Thr715Asn) c.3905C>A (p.Thr1302Asn) n.6691C>A c.4019C>A (p.Thr1340Asn) | |
16 | g.48167540T>A | CA395804122 | ABCC11 | c.4012A>T (p.Thr1338Ser) c.3898A>T (p.Thr1300Ser) n.1312A>T c.3814A>T (p.Thr1272Ser) c.3055A>T (p.Thr1019Ser) c.2143A>T (p.Thr715Ser) c.3904A>T (p.Thr1302Ser) n.6690A>T c.4018A>T (p.Thr1340Ser) | |
16 | g.48167540T>C | CA395804127 | ABCC11 | c.4012A>G (p.Thr1338Ala) c.3898A>G (p.Thr1300Ala) n.1312A>G c.3814A>G (p.Thr1272Ala) c.3055A>G (p.Thr1019Ala) c.2143A>G (p.Thr715Ala) c.3904A>G (p.Thr1302Ala) n.6690A>G c.4018A>G (p.Thr1340Ala) | |
16 | g.48167540T>G | CA395804130 | ABCC11 | c.4012A>C (p.Thr1338Pro) c.3898A>C (p.Thr1300Pro) n.1312A>C c.3814A>C (p.Thr1272Pro) c.3055A>C (p.Thr1019Pro) c.2143A>C (p.Thr715Pro) c.3904A>C (p.Thr1302Pro) n.6690A>C c.4018A>C (p.Thr1340Pro) | |
16 | g.48167541G>A | CA495442637 | ABCC11 | c.4011C>T (p.Thr1337=) c.3897C>T (p.Thr1299=) n.1311C>T c.3813C>T (p.Thr1271=) c.3054C>T (p.Thr1018=) c.2142C>T (p.Thr714=) c.3903C>T (p.Thr1301=) n.6689C>T c.4017C>T (p.Thr1339=) | |
16 | g.48167541G>C | CA495442638 | ABCC11 | c.4011C>G (p.Thr1337=) c.3897C>G (p.Thr1299=) n.1311C>G c.3813C>G (p.Thr1271=) c.3054C>G (p.Thr1018=) c.2142C>G (p.Thr714=) c.3903C>G (p.Thr1301=) n.6689C>G c.4017C>G (p.Thr1339=) | |
16 | g.48167541G>T | CA495442639 | ABCC11 | c.4011C>A (p.Thr1337=) c.3897C>A (p.Thr1299=) n.1311C>A c.3813C>A (p.Thr1271=) c.3054C>A (p.Thr1018=) c.2142C>A (p.Thr714=) c.3903C>A (p.Thr1301=) n.6689C>A c.4017C>A (p.Thr1339=) | |
16 | g.48167542G>A | CA395804132 | ABCC11 | c.4010C>T (p.Thr1337Ile) c.3896C>T (p.Thr1299Ile) n.1310C>T c.3812C>T (p.Thr1271Ile) c.3053C>T (p.Thr1018Ile) c.2141C>T (p.Thr714Ile) c.3902C>T (p.Thr1301Ile) n.6688C>T c.4016C>T (p.Thr1339Ile) | gnomAD v4 |
16 | g.48167542G>C | CA8042949 | ABCC11 | c.4010C>G (p.Thr1337Ser) c.3896C>G (p.Thr1299Ser) n.1310C>G c.3812C>G (p.Thr1271Ser) c.3053C>G (p.Thr1018Ser) c.2141C>G (p.Thr714Ser) c.3902C>G (p.Thr1301Ser) n.6688C>G c.4016C>G (p.Thr1339Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167542G= | CA2220652328 | ABCC11 | c.4010C= (p.Thr1337=) c.3896C= (p.Thr1299=) n.1310C= c.3812C= (p.Thr1271=) c.3053C= (p.Thr1018=) c.2141C= (p.Thr714=) c.3902C= (p.Thr1301=) n.6688C= c.4016C= (p.Thr1339=) | |
16 | g.48167542G>T | CA395804137 | ABCC11 | c.4010C>A (p.Thr1337Asn) c.3896C>A (p.Thr1299Asn) n.1310C>A c.3812C>A (p.Thr1271Asn) c.3053C>A (p.Thr1018Asn) c.2141C>A (p.Thr714Asn) c.3902C>A (p.Thr1301Asn) n.6688C>A c.4016C>A (p.Thr1339Asn) | |
16 | g.48167543T>A | CA395804140 | ABCC11 | c.4009A>T (p.Thr1337Ser) c.3895A>T (p.Thr1299Ser) n.1309A>T c.3811A>T (p.Thr1271Ser) c.3052A>T (p.Thr1018Ser) c.2140A>T (p.Thr714Ser) c.3901A>T (p.Thr1301Ser) n.6687A>T c.4015A>T (p.Thr1339Ser) | |
16 | g.48167543T>C | CA395804143 | ABCC11 | c.4009A>G (p.Thr1337Ala) c.3895A>G (p.Thr1299Ala) n.1309A>G c.3811A>G (p.Thr1271Ala) c.3052A>G (p.Thr1018Ala) c.2140A>G (p.Thr714Ala) c.3901A>G (p.Thr1301Ala) n.6687A>G c.4015A>G (p.Thr1339Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.48167543T>G | CA395804146 | ABCC11 | c.4009A>C (p.Thr1337Pro) c.3895A>C (p.Thr1299Pro) n.1309A>C c.3811A>C (p.Thr1271Pro) c.3052A>C (p.Thr1018Pro) c.2140A>C (p.Thr714Pro) c.3901A>C (p.Thr1301Pro) n.6687A>C c.4015A>C (p.Thr1339Pro) | |
16 | g.48167543T= | CA2220652335 | ABCC11 | c.4009A= (p.Thr1337=) c.3895A= (p.Thr1299=) n.1309A= c.3811A= (p.Thr1271=) c.3052A= (p.Thr1018=) c.2140A= (p.Thr714=) c.3901A= (p.Thr1301=) n.6687A= c.4015A= (p.Thr1339=) | |
16 | g.48167544G>A | CA495442640 | ABCC11 | c.4008C>T (p.Val1336=) c.3894C>T (p.Val1298=) n.1308C>T c.3810C>T (p.Val1270=) c.3051C>T (p.Val1017=) c.2139C>T (p.Val713=) c.3900C>T (p.Val1300=) n.6686C>T c.4014C>T (p.Val1338=) | |
16 | g.48167544G>C | CA495442642 | ABCC11 | c.4008C>G (p.Val1336=) c.3894C>G (p.Val1298=) n.1308C>G c.3810C>G (p.Val1270=) c.3051C>G (p.Val1017=) c.2139C>G (p.Val713=) c.3900C>G (p.Val1300=) n.6686C>G c.4014C>G (p.Val1338=) | |
16 | g.48167544G>T | CA495442641 | ABCC11 | c.4008C>A (p.Val1336=) c.3894C>A (p.Val1298=) n.1308C>A c.3810C>A (p.Val1270=) c.3051C>A (p.Val1017=) c.2139C>A (p.Val713=) c.3900C>A (p.Val1300=) n.6686C>A c.4014C>A (p.Val1338=) | |
16 | g.48167545A>C | CA395804154 | ABCC11 | c.4007T>G (p.Val1336Gly) c.3893T>G (p.Val1298Gly) n.1307T>G c.3809T>G (p.Val1270Gly) c.3050T>G (p.Val1017Gly) c.2138T>G (p.Val713Gly) c.3899T>G (p.Val1300Gly) n.6685T>G c.4013T>G (p.Val1338Gly) | |
16 | g.48167545A>G | CA395804152 | ABCC11 | c.4007T>C (p.Val1336Ala) c.3893T>C (p.Val1298Ala) n.1307T>C c.3809T>C (p.Val1270Ala) c.3050T>C (p.Val1017Ala) c.2138T>C (p.Val713Ala) c.3899T>C (p.Val1300Ala) n.6685T>C c.4013T>C (p.Val1338Ala) | |
16 | g.48167545A>T | CA395804149 | ABCC11 | c.4007T>A (p.Val1336Asp) c.3893T>A (p.Val1298Asp) n.1307T>A c.3809T>A (p.Val1270Asp) c.3050T>A (p.Val1017Asp) c.2138T>A (p.Val713Asp) c.3899T>A (p.Val1300Asp) n.6685T>A c.4013T>A (p.Val1338Asp) | gnomAD v4 COSMIC |
16 | g.48167546C>A | CA395804158 | ABCC11 | c.4006G>T (p.Val1336Phe) c.3892G>T (p.Val1298Phe) n.1306G>T c.3808G>T (p.Val1270Phe) c.3049G>T (p.Val1017Phe) c.2137G>T (p.Val713Phe) c.3898G>T (p.Val1300Phe) n.6684G>T c.4012G>T (p.Val1338Phe) | |
16 | g.48167546C= | CA2220652339 | ABCC11 | c.4006G= (p.Val1336=) c.3892G= (p.Val1298=) n.1306G= c.3808G= (p.Val1270=) c.3049G= (p.Val1017=) c.2137G= (p.Val713=) c.3898G= (p.Val1300=) n.6684G= c.4012G= (p.Val1338=) | |
16 | g.48167546C>G | CA395804159 | ABCC11 | c.4006G>C (p.Val1336Leu) c.3892G>C (p.Val1298Leu) n.1306G>C c.3808G>C (p.Val1270Leu) c.3049G>C (p.Val1017Leu) c.2137G>C (p.Val713Leu) c.3898G>C (p.Val1300Leu) n.6684G>C c.4012G>C (p.Val1338Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.48167546C>T | CA395804160 | ABCC11 | c.4006G>A (p.Val1336Ile) c.3892G>A (p.Val1298Ile) n.1306G>A c.3808G>A (p.Val1270Ile) c.3049G>A (p.Val1017Ile) c.2137G>A (p.Val713Ile) c.3898G>A (p.Val1300Ile) n.6684G>A c.4012G>A (p.Val1338Ile) | gnomAD v4 |
16 | g.48167547A>C | CA495442643 | ABCC11 | c.4005T>G (p.Arg1335=) c.3891T>G (p.Arg1297=) n.1305T>G c.3807T>G (p.Arg1269=) c.3048T>G (p.Arg1016=) c.2136T>G (p.Arg712=) c.3897T>G (p.Arg1299=) n.6683T>G c.4011T>G (p.Arg1337=) | |
16 | g.48167547A>G | CA495442644 | ABCC11 | c.4005T>C (p.Arg1335=) c.3891T>C (p.Arg1297=) n.1305T>C c.3807T>C (p.Arg1269=) c.3048T>C (p.Arg1016=) c.2136T>C (p.Arg712=) c.3897T>C (p.Arg1299=) n.6683T>C c.4011T>C (p.Arg1337=) | |
16 | g.48167547A>T | CA495442645 | ABCC11 | c.4005T>A (p.Arg1335=) c.3891T>A (p.Arg1297=) n.1305T>A c.3807T>A (p.Arg1269=) c.3048T>A (p.Arg1016=) c.2136T>A (p.Arg712=) c.3897T>A (p.Arg1299=) n.6683T>A c.4011T>A (p.Arg1337=) | |
16 | g.48167548C>A | CA395804161 | ABCC11 | c.4004G>T (p.Arg1335Leu) c.3890G>T (p.Arg1297Leu) n.1304G>T c.3806G>T (p.Arg1269Leu) c.3047G>T (p.Arg1016Leu) c.2135G>T (p.Arg712Leu) c.3896G>T (p.Arg1299Leu) n.6682G>T c.4010G>T (p.Arg1337Leu) | |
16 | g.48167548C= | CA2220652344 | ABCC11 | c.4004G= (p.Arg1335=) c.3890G= (p.Arg1297=) n.1304G= c.3806G= (p.Arg1269=) c.3047G= (p.Arg1016=) c.2135G= (p.Arg712=) c.3896G= (p.Arg1299=) n.6682G= c.4010G= (p.Arg1337=) | |
16 | g.48167548C>G | CA395804162 | ABCC11 | c.4004G>C (p.Arg1335Pro) c.3890G>C (p.Arg1297Pro) n.1304G>C c.3806G>C (p.Arg1269Pro) c.3047G>C (p.Arg1016Pro) c.2135G>C (p.Arg712Pro) c.3896G>C (p.Arg1299Pro) n.6682G>C c.4010G>C (p.Arg1337Pro) | dbSNP |
16 | g.48167548C>T | CA8042950 | ABCC11 | c.4004G>A (p.Arg1335His) c.3890G>A (p.Arg1297His) n.1304G>A c.3806G>A (p.Arg1269His) c.3047G>A (p.Arg1016His) c.2135G>A (p.Arg712His) c.3896G>A (p.Arg1299His) n.6682G>A c.4010G>A (p.Arg1337His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167549G>A | CA395804164 | ABCC11 | c.4003C>T (p.Arg1335Cys) c.3889C>T (p.Arg1297Cys) n.1303C>T c.3805C>T (p.Arg1269Cys) c.3046C>T (p.Arg1016Cys) c.2134C>T (p.Arg712Cys) c.3895C>T (p.Arg1299Cys) n.6681C>T c.4009C>T (p.Arg1337Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.48167549G>C | CA395804166 | ABCC11 | c.4003C>G (p.Arg1335Gly) c.3889C>G (p.Arg1297Gly) n.1303C>G c.3805C>G (p.Arg1269Gly) c.3046C>G (p.Arg1016Gly) c.2134C>G (p.Arg712Gly) c.3895C>G (p.Arg1299Gly) n.6681C>G c.4009C>G (p.Arg1337Gly) | |
16 | g.48167549G= | CA2220652354 | ABCC11 | c.4003C= (p.Arg1335=) c.3889C= (p.Arg1297=) n.1303C= c.3805C= (p.Arg1269=) c.3046C= (p.Arg1016=) c.2134C= (p.Arg712=) c.3895C= (p.Arg1299=) n.6681C= c.4009C= (p.Arg1337=) | |
16 | g.48167549G>T | CA395804167 | ABCC11 | c.4003C>A (p.Arg1335Ser) c.3889C>A (p.Arg1297Ser) n.1303C>A c.3805C>A (p.Arg1269Ser) c.3046C>A (p.Arg1016Ser) c.2134C>A (p.Arg712Ser) c.3895C>A (p.Arg1299Ser) n.6681C>A c.4009C>A (p.Arg1337Ser) | |
16 | g.48167550G>A | CA495442646 | ABCC11 | c.4002C>T (p.His1334=) c.3888C>T (p.His1296=) n.1302C>T c.3804C>T (p.His1268=) c.3045C>T (p.His1015=) c.2133C>T (p.His711=) c.3894C>T (p.His1298=) n.6680C>T c.4008C>T (p.His1336=) | dbSNP |
16 | g.48167550G>C | CA395804168 | ABCC11 | c.4002C>G (p.His1334Gln) c.3888C>G (p.His1296Gln) n.1302C>G c.3804C>G (p.His1268Gln) c.3045C>G (p.His1015Gln) c.2133C>G (p.His711Gln) c.3894C>G (p.His1298Gln) n.6680C>G c.4008C>G (p.His1336Gln) | dbSNP |
16 | g.48167550G= | CA2220652366 | ABCC11 | c.4002C= (p.His1334=) c.3888C= (p.His1296=) n.1302C= c.3804C= (p.His1268=) c.3045C= (p.His1015=) c.2133C= (p.His711=) c.3894C= (p.His1298=) n.6680C= c.4008C= (p.His1336=) | |
16 | g.48167550G>T | CA395804169 | ABCC11 | c.4002C>A (p.His1334Gln) c.3888C>A (p.His1296Gln) n.1302C>A c.3804C>A (p.His1268Gln) c.3045C>A (p.His1015Gln) c.2133C>A (p.His711Gln) c.3894C>A (p.His1298Gln) n.6680C>A c.4008C>A (p.His1336Gln) | dbSNP |
16 | g.48167551T>A | CA395804174 | ABCC11 | c.4001A>T (p.His1334Leu) c.3887A>T (p.His1296Leu) n.1301A>T c.3803A>T (p.His1268Leu) c.3044A>T (p.His1015Leu) c.2132A>T (p.His711Leu) c.3893A>T (p.His1298Leu) n.6679A>T c.4007A>T (p.His1336Leu) | |
16 | g.48167551T>C | CA395804172 | ABCC11 | c.4001A>G (p.His1334Arg) c.3887A>G (p.His1296Arg) n.1301A>G c.3803A>G (p.His1268Arg) c.3044A>G (p.His1015Arg) c.2132A>G (p.His711Arg) c.3893A>G (p.His1298Arg) n.6679A>G c.4007A>G (p.His1336Arg) | |
16 | g.48167551T>G | CA395804171 | ABCC11 | c.4001A>C (p.His1334Pro) c.3887A>C (p.His1296Pro) n.1301A>C c.3803A>C (p.His1268Pro) c.3044A>C (p.His1015Pro) c.2132A>C (p.His711Pro) c.3893A>C (p.His1298Pro) n.6679A>C c.4007A>C (p.His1336Pro) | |
16 | g.48167552G>A | CA395804178 | ABCC11 | c.4000C>T (p.His1334Tyr) c.3886C>T (p.His1296Tyr) n.1300C>T c.3802C>T (p.His1268Tyr) c.3043C>T (p.His1015Tyr) c.2131C>T (p.His711Tyr) c.3892C>T (p.His1298Tyr) n.6678C>T c.4006C>T (p.His1336Tyr) | |
16 | g.48167552G>C | CA395804179 | ABCC11 | c.4000C>G (p.His1334Asp) c.3886C>G (p.His1296Asp) n.1300C>G c.3802C>G (p.His1268Asp) c.3043C>G (p.His1015Asp) c.2131C>G (p.His711Asp) c.3892C>G (p.His1298Asp) n.6678C>G c.4006C>G (p.His1336Asp) | |
16 | g.48167552G>T | CA395804183 | ABCC11 | c.4000C>A (p.His1334Asn) c.3886C>A (p.His1296Asn) n.1300C>A c.3802C>A (p.His1268Asn) c.3043C>A (p.His1015Asn) c.2131C>A (p.His711Asn) c.3892C>A (p.His1298Asn) n.6678C>A c.4006C>A (p.His1336Asn) | |
16 | g.48167553G>A | CA495442647 | ABCC11 | c.3999C>T (p.Ala1333=) c.3885C>T (p.Ala1295=) n.1299C>T c.3801C>T (p.Ala1267=) c.3042C>T (p.Ala1014=) c.2130C>T (p.Ala710=) c.3891C>T (p.Ala1297=) n.6677C>T c.4005C>T (p.Ala1335=) | |
16 | g.48167553G>C | CA495442648 | ABCC11 | c.3999C>G (p.Ala1333=) c.3885C>G (p.Ala1295=) n.1299C>G c.3801C>G (p.Ala1267=) c.3042C>G (p.Ala1014=) c.2130C>G (p.Ala710=) c.3891C>G (p.Ala1297=) n.6677C>G c.4005C>G (p.Ala1335=) | |
16 | g.48167553G>T | CA495442649 | ABCC11 | c.3999C>A (p.Ala1333=) c.3885C>A (p.Ala1295=) n.1299C>A c.3801C>A (p.Ala1267=) c.3042C>A (p.Ala1014=) c.2130C>A (p.Ala710=) c.3891C>A (p.Ala1297=) n.6677C>A c.4005C>A (p.Ala1335=) | |
16 | g.48167554G>A | CA395804186 | ABCC11 | c.3998C>T (p.Ala1333Val) c.3884C>T (p.Ala1295Val) n.1298C>T c.3800C>T (p.Ala1267Val) c.3041C>T (p.Ala1014Val) c.2129C>T (p.Ala710Val) c.3890C>T (p.Ala1297Val) n.6676C>T c.4004C>T (p.Ala1335Val) | dbSNP |
16 | g.48167554G>C | CA395804188 | ABCC11 | c.3998C>G (p.Ala1333Gly) c.3884C>G (p.Ala1295Gly) n.1298C>G c.3800C>G (p.Ala1267Gly) c.3041C>G (p.Ala1014Gly) c.2129C>G (p.Ala710Gly) c.3890C>G (p.Ala1297Gly) n.6676C>G c.4004C>G (p.Ala1335Gly) | |
16 | g.48167554G>T | CA395804191 | ABCC11 | c.3998C>A (p.Ala1333Asp) c.3884C>A (p.Ala1295Asp) n.1298C>A c.3800C>A (p.Ala1267Asp) c.3041C>A (p.Ala1014Asp) c.2129C>A (p.Ala710Asp) c.3890C>A (p.Ala1297Asp) n.6676C>A c.4004C>A (p.Ala1335Asp) | |
16 | g.48167555C>A | CA395804194 | ABCC11 | c.3997G>T (p.Ala1333Ser) c.3883G>T (p.Ala1295Ser) n.1297G>T c.3799G>T (p.Ala1267Ser) c.3040G>T (p.Ala1014Ser) c.2128G>T (p.Ala710Ser) c.3889G>T (p.Ala1297Ser) n.6675G>T c.4003G>T (p.Ala1335Ser) | dbSNP |
16 | g.48167555C= | CA2220652374 | ABCC11 | c.3997G= (p.Ala1333=) c.3883G= (p.Ala1295=) n.1297G= c.3799G= (p.Ala1267=) c.3040G= (p.Ala1014=) c.2128G= (p.Ala710=) c.3889G= (p.Ala1297=) n.6675G= c.4003G= (p.Ala1335=) | |
16 | g.48167555C>G | CA395804197 | ABCC11 | c.3997G>C (p.Ala1333Pro) c.3883G>C (p.Ala1295Pro) n.1297G>C c.3799G>C (p.Ala1267Pro) c.3040G>C (p.Ala1014Pro) c.2128G>C (p.Ala710Pro) c.3889G>C (p.Ala1297Pro) n.6675G>C c.4003G>C (p.Ala1335Pro) | |
16 | g.48167555C>T | CA8042951 | ABCC11 | c.3997G>A (p.Ala1333Thr) c.3883G>A (p.Ala1295Thr) n.1297G>A c.3799G>A (p.Ala1267Thr) c.3040G>A (p.Ala1014Thr) c.2128G>A (p.Ala710Thr) c.3889G>A (p.Ala1297Thr) n.6675G>A c.4003G>A (p.Ala1335Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167555_48167559delinsCAATG | CA2220652377 | ABCC11 | c.3993_3997delinsCATTG (p.Val1331=) c.3879_3883delinsCATTG (p.Val1293=) n.1293_1297delinsCATTG c.3795_3799delinsCATTG (p.Val1265=) c.3036_3040delinsCATTG (p.Val1012=) c.2124_2128delinsCATTG (p.Val708=) c.3885_3889delinsCATTG (p.Val1295=) n.6671_6675delinsCATTG c.3999_4003delinsCATTG (p.Val1333=) | |
16 | g.48167556A>C | CA395804207 | ABCC11 | c.3996T>G (p.Ile1332Met) c.3882T>G (p.Ile1294Met) n.1296T>G c.3798T>G (p.Ile1266Met) c.3039T>G (p.Ile1013Met) c.2127T>G (p.Ile709Met) c.3888T>G (p.Ile1296Met) n.6674T>G c.4002T>G (p.Ile1334Met) | gnomAD v4 |
16 | g.48167556A>G | CA495442650 | ABCC11 | c.3996T>C (p.Ile1332=) c.3882T>C (p.Ile1294=) n.1296T>C c.3798T>C (p.Ile1266=) c.3039T>C (p.Ile1013=) c.2127T>C (p.Ile709=) c.3888T>C (p.Ile1296=) n.6674T>C c.4002T>C (p.Ile1334=) | |
16 | g.48167556A>T | CA495442651 | ABCC11 | c.3996T>A (p.Ile1332=) c.3882T>A (p.Ile1294=) n.1296T>A c.3798T>A (p.Ile1266=) c.3039T>A (p.Ile1013=) c.2127T>A (p.Ile709=) c.3888T>A (p.Ile1296=) n.6674T>A c.4002T>A (p.Ile1334=) | |
16 | g.48167557_48167560del | CA622652860 | ABCC11 | c.3993_3996del (p.Ile1332ProfsTer8) c.3879_3882del (p.Ile1294ProfsTer8) n.1293_1296del c.3795_3798del (p.Ile1266ProfsTer8) c.3036_3039del (p.Ile1013ProfsTer8) c.2124_2127del (p.Ile709ProfsTer8) c.3885_3888del (p.Ile1296ProfsTer8) n.6671_6674del c.3999_4002del (p.Ile1334ProfsTer8) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167557A>C | CA395804209 | ABCC11 | c.3995T>G (p.Ile1332Ser) c.3881T>G (p.Ile1294Ser) n.1295T>G c.3797T>G (p.Ile1266Ser) c.3038T>G (p.Ile1013Ser) c.2126T>G (p.Ile709Ser) c.3887T>G (p.Ile1296Ser) n.6673T>G c.4001T>G (p.Ile1334Ser) | |
16 | g.48167557A>G | CA395804211 | ABCC11 | c.3995T>C (p.Ile1332Thr) c.3881T>C (p.Ile1294Thr) n.1295T>C c.3797T>C (p.Ile1266Thr) c.3038T>C (p.Ile1013Thr) c.2126T>C (p.Ile709Thr) c.3887T>C (p.Ile1296Thr) n.6673T>C c.4001T>C (p.Ile1334Thr) | |
16 | g.48167557A>T | CA395804214 | ABCC11 | c.3995T>A (p.Ile1332Asn) c.3881T>A (p.Ile1294Asn) n.1295T>A c.3797T>A (p.Ile1266Asn) c.3038T>A (p.Ile1013Asn) c.2126T>A (p.Ile709Asn) c.3887T>A (p.Ile1296Asn) n.6673T>A c.4001T>A (p.Ile1334Asn) | |
16 | g.48167558T>A | CA395804223 | ABCC11 | c.3994A>T (p.Ile1332Phe) c.3880A>T (p.Ile1294Phe) n.1294A>T c.3796A>T (p.Ile1266Phe) c.3037A>T (p.Ile1013Phe) c.2125A>T (p.Ile709Phe) c.3886A>T (p.Ile1296Phe) n.6672A>T c.4000A>T (p.Ile1334Phe) | |
16 | g.48167558T>C | CA395804220 | ABCC11 | c.3994A>G (p.Ile1332Val) c.3880A>G (p.Ile1294Val) n.1294A>G c.3796A>G (p.Ile1266Val) c.3037A>G (p.Ile1013Val) c.2125A>G (p.Ile709Val) c.3886A>G (p.Ile1296Val) n.6672A>G c.4000A>G (p.Ile1334Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.48167558T>G | CA395804217 | ABCC11 | c.3994A>C (p.Ile1332Leu) c.3880A>C (p.Ile1294Leu) n.1294A>C c.3796A>C (p.Ile1266Leu) c.3037A>C (p.Ile1013Leu) c.2125A>C (p.Ile709Leu) c.3886A>C (p.Ile1296Leu) n.6672A>C c.4000A>C (p.Ile1334Leu) | |
16 | g.48167558T= | CA2220652389 | ABCC11 | c.3994A= (p.Ile1332=) c.3880A= (p.Ile1294=) n.1294A= c.3796A= (p.Ile1266=) c.3037A= (p.Ile1013=) c.2125A= (p.Ile709=) c.3886A= (p.Ile1296=) n.6672A= c.4000A= (p.Ile1334=) | |
16 | g.48167559G>A | CA495442652 | ABCC11 | c.3993C>T (p.Val1331=) c.3879C>T (p.Val1293=) n.1293C>T c.3795C>T (p.Val1265=) c.3036C>T (p.Val1012=) c.2124C>T (p.Val708=) c.3885C>T (p.Val1295=) n.6671C>T c.3999C>T (p.Val1333=) | |
16 | g.48167559G>C | CA495442653 | ABCC11 | c.3993C>G (p.Val1331=) c.3879C>G (p.Val1293=) n.1293C>G c.3795C>G (p.Val1265=) c.3036C>G (p.Val1012=) c.2124C>G (p.Val708=) c.3885C>G (p.Val1295=) n.6671C>G c.3999C>G (p.Val1333=) | |
16 | g.48167559G>T | CA495442654 | ABCC11 | c.3993C>A (p.Val1331=) c.3879C>A (p.Val1293=) n.1293C>A c.3795C>A (p.Val1265=) c.3036C>A (p.Val1012=) c.2124C>A (p.Val708=) c.3885C>A (p.Val1295=) n.6671C>A c.3999C>A (p.Val1333=) | |
16 | g.48167560A>C | CA395804227 | ABCC11 | c.3992T>G (p.Val1331Gly) c.3878T>G (p.Val1293Gly) n.1292T>G c.3794T>G (p.Val1265Gly) c.3035T>G (p.Val1012Gly) c.2123T>G (p.Val708Gly) c.3884T>G (p.Val1295Gly) n.6670T>G c.3998T>G (p.Val1333Gly) | |
16 | g.48167560A>G | CA395804225 | ABCC11 | c.3992T>C (p.Val1331Ala) c.3878T>C (p.Val1293Ala) n.1292T>C c.3794T>C (p.Val1265Ala) c.3035T>C (p.Val1012Ala) c.2123T>C (p.Val708Ala) c.3884T>C (p.Val1295Ala) n.6670T>C c.3998T>C (p.Val1333Ala) | gnomAD v4 |
16 | g.48167560A>T | CA395804229 | ABCC11 | c.3992T>A (p.Val1331Asp) c.3878T>A (p.Val1293Asp) n.1292T>A c.3794T>A (p.Val1265Asp) c.3035T>A (p.Val1012Asp) c.2123T>A (p.Val708Asp) c.3884T>A (p.Val1295Asp) n.6670T>A c.3998T>A (p.Val1333Asp) | |
16 | g.48167561C>A | CA395804232 | ABCC11 | c.3991G>T (p.Val1331Phe) c.3877G>T (p.Val1293Phe) n.1291G>T c.3793G>T (p.Val1265Phe) c.3034G>T (p.Val1012Phe) c.2122G>T (p.Val708Phe) c.3883G>T (p.Val1295Phe) n.6669G>T c.3997G>T (p.Val1333Phe) | dbSNP |
16 | g.48167561C= | CA2220652390 | ABCC11 | c.3991G= (p.Val1331=) c.3877G= (p.Val1293=) n.1291G= c.3793G= (p.Val1265=) c.3034G= (p.Val1012=) c.2122G= (p.Val708=) c.3883G= (p.Val1295=) n.6669G= c.3997G= (p.Val1333=) | |
16 | g.48167561C>G | CA280260563 | ABCC11 | c.3991G>C (p.Val1331Leu) c.3877G>C (p.Val1293Leu) n.1291G>C c.3793G>C (p.Val1265Leu) c.3034G>C (p.Val1012Leu) c.2122G>C (p.Val708Leu) c.3883G>C (p.Val1295Leu) n.6669G>C c.3997G>C (p.Val1333Leu) | dbSNP |
16 | g.48167561C>T | CA8042952 | ABCC11 | c.3991G>A (p.Val1331Ile) c.3877G>A (p.Val1293Ile) n.1291G>A c.3793G>A (p.Val1265Ile) c.3034G>A (p.Val1012Ile) c.2122G>A (p.Val708Ile) c.3883G>A (p.Val1295Ile) n.6669G>A c.3997G>A (p.Val1333Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167562G>A | CA8042953 | ABCC11 | c.3990C>T (p.Leu1330=) c.3876C>T (p.Leu1292=) n.1290C>T c.3792C>T (p.Leu1264=) c.3033C>T (p.Leu1011=) c.2121C>T (p.Leu707=) c.3882C>T (p.Leu1294=) n.6668C>T c.3996C>T (p.Leu1332=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.48167562G>C | CA8042954 | ABCC11 | c.3990C>G (p.Leu1330=) c.3876C>G (p.Leu1292=) n.1290C>G c.3792C>G (p.Leu1264=) c.3033C>G (p.Leu1011=) c.2121C>G (p.Leu707=) c.3882C>G (p.Leu1294=) n.6668C>G c.3996C>G (p.Leu1332=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167562G= | CA2220652395 | ABCC11 | c.3990C= (p.Leu1330=) c.3876C= (p.Leu1292=) n.1290C= c.3792C= (p.Leu1264=) c.3033C= (p.Leu1011=) c.2121C= (p.Leu707=) c.3882C= (p.Leu1294=) n.6668C= c.3996C= (p.Leu1332=) | |
16 | g.48167562G>T | CA495442655 | ABCC11 | c.3990C>A (p.Leu1330=) c.3876C>A (p.Leu1292=) n.1290C>A c.3792C>A (p.Leu1264=) c.3033C>A (p.Leu1011=) c.2121C>A (p.Leu707=) c.3882C>A (p.Leu1294=) n.6668C>A c.3996C>A (p.Leu1332=) | |
16 | g.48167563A>C | CA395804243 | ABCC11 | c.3989T>G (p.Leu1330Arg) c.3875T>G (p.Leu1292Arg) n.1289T>G c.3791T>G (p.Leu1264Arg) c.3032T>G (p.Leu1011Arg) c.2120T>G (p.Leu707Arg) c.3881T>G (p.Leu1294Arg) n.6667T>G c.3995T>G (p.Leu1332Arg) | |
16 | g.48167563A>G | CA395804245 | ABCC11 | c.3989T>C (p.Leu1330Pro) c.3875T>C (p.Leu1292Pro) n.1289T>C c.3791T>C (p.Leu1264Pro) c.3032T>C (p.Leu1011Pro) c.2120T>C (p.Leu707Pro) c.3881T>C (p.Leu1294Pro) n.6667T>C c.3995T>C (p.Leu1332Pro) | |
16 | g.48167563A>T | CA395804248 | ABCC11 | c.3989T>A (p.Leu1330His) c.3875T>A (p.Leu1292His) n.1289T>A c.3791T>A (p.Leu1264His) c.3032T>A (p.Leu1011His) c.2120T>A (p.Leu707His) c.3881T>A (p.Leu1294His) n.6667T>A c.3995T>A (p.Leu1332His) | |
16 | g.48167564G>A | CA395804251 | ABCC11 | c.3988C>T (p.Leu1330Phe) c.3874C>T (p.Leu1292Phe) n.1288C>T c.3790C>T (p.Leu1264Phe) c.3031C>T (p.Leu1011Phe) c.2119C>T (p.Leu707Phe) c.3880C>T (p.Leu1294Phe) n.6666C>T c.3994C>T (p.Leu1332Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167564G>C | CA395804253 | ABCC11 | c.3988C>G (p.Leu1330Val) c.3874C>G (p.Leu1292Val) n.1288C>G c.3790C>G (p.Leu1264Val) c.3031C>G (p.Leu1011Val) c.2119C>G (p.Leu707Val) c.3880C>G (p.Leu1294Val) n.6666C>G c.3994C>G (p.Leu1332Val) | |
16 | g.48167564G= | CA2220652399 | ABCC11 | c.3988C= (p.Leu1330=) c.3874C= (p.Leu1292=) n.1288C= c.3790C= (p.Leu1264=) c.3031C= (p.Leu1011=) c.2119C= (p.Leu707=) c.3880C= (p.Leu1294=) n.6666C= c.3994C= (p.Leu1332=) | |
16 | g.48167564G>T | CA395804257 | ABCC11 | c.3988C>A (p.Leu1330Ile) c.3874C>A (p.Leu1292Ile) n.1288C>A c.3790C>A (p.Leu1264Ile) c.3031C>A (p.Leu1011Ile) c.2119C>A (p.Leu707Ile) c.3880C>A (p.Leu1294Ile) n.6666C>A c.3994C>A (p.Leu1332Ile) | |
16 | g.48167565C>A | CA495442656 | ABCC11 | c.3987G>T (p.Val1329=) c.3873G>T (p.Val1291=) n.1287G>T c.3789G>T (p.Val1263=) c.3030G>T (p.Val1010=) c.2118G>T (p.Val706=) c.3879G>T (p.Val1293=) n.6665G>T c.3993G>T (p.Val1331=) | |
16 | g.48167565C= | CA2220652402 | ABCC11 | c.3987G= (p.Val1329=) c.3873G= (p.Val1291=) n.1287G= c.3789G= (p.Val1263=) c.3030G= (p.Val1010=) c.2118G= (p.Val706=) c.3879G= (p.Val1293=) n.6665G= c.3993G= (p.Val1331=) | |
16 | g.48167565C>G | CA495442657 | ABCC11 | c.3987G>C (p.Val1329=) c.3873G>C (p.Val1291=) n.1287G>C c.3789G>C (p.Val1263=) c.3030G>C (p.Val1010=) c.2118G>C (p.Val706=) c.3879G>C (p.Val1293=) n.6665G>C c.3993G>C (p.Val1331=) | |
16 | g.48167565C>T | CA8042955 | ABCC11 | c.3987G>A (p.Val1329=) c.3873G>A (p.Val1291=) n.1287G>A c.3789G>A (p.Val1263=) c.3030G>A (p.Val1010=) c.2118G>A (p.Val706=) c.3879G>A (p.Val1293=) n.6665G>A c.3993G>A (p.Val1331=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.48167566A= | CA2220652411 | ABCC11 | c.3986T= (p.Val1329=) c.3872T= (p.Val1291=) n.1286T= c.3788T= (p.Val1263=) c.3029T= (p.Val1010=) c.2117T= (p.Val706=) c.3878T= (p.Val1293=) n.6664T= c.3992T= (p.Val1331=) | |
16 | g.48167566A>C | CA395804268 | ABCC11 | c.3986T>G (p.Val1329Gly) c.3872T>G (p.Val1291Gly) n.1286T>G c.3788T>G (p.Val1263Gly) c.3029T>G (p.Val1010Gly) c.2117T>G (p.Val706Gly) c.3878T>G (p.Val1293Gly) n.6664T>G c.3992T>G (p.Val1331Gly) | |
16 | g.48167566A>G | CA395804266 | ABCC11 | c.3986T>C (p.Val1329Ala) c.3872T>C (p.Val1291Ala) n.1286T>C c.3788T>C (p.Val1263Ala) c.3029T>C (p.Val1010Ala) c.2117T>C (p.Val706Ala) c.3878T>C (p.Val1293Ala) n.6664T>C c.3992T>C (p.Val1331Ala) | dbSNP |
16 | g.48167566A>T | CA395804262 | ABCC11 | c.3986T>A (p.Val1329Glu) c.3872T>A (p.Val1291Glu) n.1286T>A c.3788T>A (p.Val1263Glu) c.3029T>A (p.Val1010Glu) c.2117T>A (p.Val706Glu) c.3878T>A (p.Val1293Glu) n.6664T>A c.3992T>A (p.Val1331Glu) | dbSNP |
16 | g.48167567C>A | CA395804273 | ABCC11 | c.3985G>T (p.Val1329Leu) c.3871G>T (p.Val1291Leu) n.1285G>T c.3787G>T (p.Val1263Leu) c.3028G>T (p.Val1010Leu) c.2116G>T (p.Val706Leu) c.3877G>T (p.Val1293Leu) n.6663G>T c.3991G>T (p.Val1331Leu) | gnomAD v4 |
16 | g.48167567C= | CA2220652417 | ABCC11 | c.3985G= (p.Val1329=) c.3871G= (p.Val1291=) n.1285G= c.3787G= (p.Val1263=) c.3028G= (p.Val1010=) c.2116G= (p.Val706=) c.3877G= (p.Val1293=) n.6663G= c.3991G= (p.Val1331=) | |
16 | g.48167567C>G | CA395804276 | ABCC11 | c.3985G>C (p.Val1329Leu) c.3871G>C (p.Val1291Leu) n.1285G>C c.3787G>C (p.Val1263Leu) c.3028G>C (p.Val1010Leu) c.2116G>C (p.Val706Leu) c.3877G>C (p.Val1293Leu) n.6663G>C c.3991G>C (p.Val1331Leu) | |
16 | g.48167567C>T | CA8042956 | ABCC11 | c.3985G>A (p.Val1329Met) c.3871G>A (p.Val1291Met) n.1285G>A c.3787G>A (p.Val1263Met) c.3028G>A (p.Val1010Met) c.2116G>A (p.Val706Met) c.3877G>A (p.Val1293Met) n.6663G>A c.3991G>A (p.Val1331Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.48167568G>A | CA8042957 | ABCC11 | c.3984C>T (p.Thr1328=) c.3870C>T (p.Thr1290=) n.1284C>T c.3786C>T (p.Thr1262=) c.3027C>T (p.Thr1009=) c.2115C>T (p.Thr705=) c.3876C>T (p.Thr1292=) n.6662C>T c.3990C>T (p.Thr1330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167568G>C | CA495442658 | ABCC11 | c.3984C>G (p.Thr1328=) c.3870C>G (p.Thr1290=) n.1284C>G c.3786C>G (p.Thr1262=) c.3027C>G (p.Thr1009=) c.2115C>G (p.Thr705=) c.3876C>G (p.Thr1292=) n.6662C>G c.3990C>G (p.Thr1330=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.48167568G= | CA2220652427 | ABCC11 | c.3984C= (p.Thr1328=) c.3870C= (p.Thr1290=) n.1284C= c.3786C= (p.Thr1262=) c.3027C= (p.Thr1009=) c.2115C= (p.Thr705=) c.3876C= (p.Thr1292=) n.6662C= c.3990C= (p.Thr1330=) | |
16 | g.48167568G>T | CA495442659 | ABCC11 | c.3984C>A (p.Thr1328=) c.3870C>A (p.Thr1290=) n.1284C>A c.3786C>A (p.Thr1262=) c.3027C>A (p.Thr1009=) c.2115C>A (p.Thr705=) c.3876C>A (p.Thr1292=) n.6662C>A c.3990C>A (p.Thr1330=) | |
16 | g.48167569G>A | CA395804282 | ABCC11 | c.3983C>T (p.Thr1328Ile) c.3869C>T (p.Thr1290Ile) n.1283C>T c.3785C>T (p.Thr1262Ile) c.3026C>T (p.Thr1009Ile) c.2114C>T (p.Thr705Ile) c.3875C>T (p.Thr1292Ile) n.6661C>T c.3989C>T (p.Thr1330Ile) | |
16 | g.48167569G>C | CA395804284 | ABCC11 | c.3983C>G (p.Thr1328Ser) c.3869C>G (p.Thr1290Ser) n.1283C>G c.3785C>G (p.Thr1262Ser) c.3026C>G (p.Thr1009Ser) c.2114C>G (p.Thr705Ser) c.3875C>G (p.Thr1292Ser) n.6661C>G c.3989C>G (p.Thr1330Ser) | gnomAD v4 |
16 | g.48167569G>T | CA395804291 | ABCC11 | c.3983C>A (p.Thr1328Asn) c.3869C>A (p.Thr1290Asn) n.1283C>A c.3785C>A (p.Thr1262Asn) c.3026C>A (p.Thr1009Asn) c.2114C>A (p.Thr705Asn) c.3875C>A (p.Thr1292Asn) n.6661C>A c.3989C>A (p.Thr1330Asn) | |
16 | g.48167570T>A | CA395804294 | ABCC11 | c.3982A>T (p.Thr1328Ser) c.3868A>T (p.Thr1290Ser) n.1282A>T c.3784A>T (p.Thr1262Ser) c.3025A>T (p.Thr1009Ser) c.2113A>T (p.Thr705Ser) c.3874A>T (p.Thr1292Ser) n.6660A>T c.3988A>T (p.Thr1330Ser) | |
16 | g.48167570T>C | CA395804297 | ABCC11 | c.3982A>G (p.Thr1328Ala) c.3868A>G (p.Thr1290Ala) n.1282A>G c.3784A>G (p.Thr1262Ala) c.3025A>G (p.Thr1009Ala) c.2113A>G (p.Thr705Ala) c.3874A>G (p.Thr1292Ala) n.6660A>G c.3988A>G (p.Thr1330Ala) | |
16 | g.48167570T>G | CA395804299 | ABCC11 | c.3982A>C (p.Thr1328Pro) c.3868A>C (p.Thr1290Pro) n.1282A>C c.3784A>C (p.Thr1262Pro) c.3025A>C (p.Thr1009Pro) c.2113A>C (p.Thr705Pro) c.3874A>C (p.Thr1292Pro) n.6660A>C c.3988A>C (p.Thr1330Pro) | |
16 | g.48167571G>A | CA495442660 | ABCC11 | c.3981C>T (p.Cys1327=) c.3867C>T (p.Cys1289=) n.1281C>T c.3783C>T (p.Cys1261=) c.3024C>T (p.Cys1008=) c.2112C>T (p.Cys704=) c.3873C>T (p.Cys1291=) n.6659C>T c.3987C>T (p.Cys1329=) | dbSNP gnomAD v4 |
16 | g.48167571G>C | CA395804303 | ABCC11 | c.3981C>G (p.Cys1327Trp) c.3867C>G (p.Cys1289Trp) n.1281C>G c.3783C>G (p.Cys1261Trp) c.3024C>G (p.Cys1008Trp) c.2112C>G (p.Cys704Trp) c.3873C>G (p.Cys1291Trp) n.6659C>G c.3987C>G (p.Cys1329Trp) | |
16 | g.48167571G>T | CA395804305 | ABCC11 | c.3981C>A (p.Cys1327Ter) c.3867C>A (p.Cys1289Ter) n.1281C>A c.3783C>A (p.Cys1261Ter) c.3024C>A (p.Cys1008Ter) c.2112C>A (p.Cys704Ter) c.3873C>A (p.Cys1291Ter) n.6659C>A c.3987C>A (p.Cys1329Ter) | |
16 | g.48167572C>A | CA395804312 | ABCC11 | c.3980G>T (p.Cys1327Phe) c.3866G>T (p.Cys1289Phe) n.1280G>T c.3782G>T (p.Cys1261Phe) c.3023G>T (p.Cys1008Phe) c.2111G>T (p.Cys704Phe) c.3872G>T (p.Cys1291Phe) n.6658G>T c.3986G>T (p.Cys1329Phe) | COSMIC |
16 | g.48167572C= | CA2220652432 | ABCC11 | c.3980G= (p.Cys1327=) c.3866G= (p.Cys1289=) n.1280G= c.3782G= (p.Cys1261=) c.3023G= (p.Cys1008=) c.2111G= (p.Cys704=) c.3872G= (p.Cys1291=) n.6658G= c.3986G= (p.Cys1329=) | |
16 | g.48167572C>G | CA395804310 | ABCC11 | c.3980G>C (p.Cys1327Ser) c.3866G>C (p.Cys1289Ser) n.1280G>C c.3782G>C (p.Cys1261Ser) c.3023G>C (p.Cys1008Ser) c.2111G>C (p.Cys704Ser) c.3872G>C (p.Cys1291Ser) n.6658G>C c.3986G>C (p.Cys1329Ser) | |
16 | g.48167572C>T | CA395804307 | ABCC11 | c.3980G>A (p.Cys1327Tyr) c.3866G>A (p.Cys1289Tyr) n.1280G>A c.3782G>A (p.Cys1261Tyr) c.3023G>A (p.Cys1008Tyr) c.2111G>A (p.Cys704Tyr) c.3872G>A (p.Cys1291Tyr) n.6658G>A c.3986G>A (p.Cys1329Tyr) | dbSNP gnomAD v4 |
16 | g.48167573A= | CA2220652436 | ABCC11 | c.3979T= (p.Cys1327=) c.3865T= (p.Cys1289=) n.1279T= c.3781T= (p.Cys1261=) c.3022T= (p.Cys1008=) c.2110T= (p.Cys704=) c.3871T= (p.Cys1291=) n.6657T= c.3985T= (p.Cys1329=) | |
16 | g.48167573A>C | CA395804314 | ABCC11 | c.3979T>G (p.Cys1327Gly) c.3865T>G (p.Cys1289Gly) n.1279T>G c.3781T>G (p.Cys1261Gly) c.3022T>G (p.Cys1008Gly) c.2110T>G (p.Cys704Gly) c.3871T>G (p.Cys1291Gly) n.6657T>G c.3985T>G (p.Cys1329Gly) | |
16 | g.48167573A>G | CA8042958 | ABCC11 | c.3979T>C (p.Cys1327Arg) c.3865T>C (p.Cys1289Arg) n.1279T>C c.3781T>C (p.Cys1261Arg) c.3022T>C (p.Cys1008Arg) c.2110T>C (p.Cys704Arg) c.3871T>C (p.Cys1291Arg) n.6657T>C c.3985T>C (p.Cys1329Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167573A>T | CA395804319 | ABCC11 | c.3979T>A (p.Cys1327Ser) c.3865T>A (p.Cys1289Ser) n.1279T>A c.3781T>A (p.Cys1261Ser) c.3022T>A (p.Cys1008Ser) c.2110T>A (p.Cys704Ser) c.3871T>A (p.Cys1291Ser) n.6657T>A c.3985T>A (p.Cys1329Ser) | |
16 | g.48167574G>A | CA495442661 | ABCC11 | c.3978C>T (p.Gly1326=) c.3864C>T (p.Gly1288=) n.1278C>T c.3780C>T (p.Gly1260=) c.3021C>T (p.Gly1007=) c.2109C>T (p.Gly703=) c.3870C>T (p.Gly1290=) n.6656C>T c.3984C>T (p.Gly1328=) | dbSNP gnomAD v4 |
16 | g.48167574G>C | CA495442662 | ABCC11 | c.3978C>G (p.Gly1326=) c.3864C>G (p.Gly1288=) n.1278C>G c.3780C>G (p.Gly1260=) c.3021C>G (p.Gly1007=) c.2109C>G (p.Gly703=) c.3870C>G (p.Gly1290=) n.6656C>G c.3984C>G (p.Gly1328=) | |
16 | g.48167574G>T | CA495442663 | ABCC11 | c.3978C>A (p.Gly1326=) c.3864C>A (p.Gly1288=) n.1278C>A c.3780C>A (p.Gly1260=) c.3021C>A (p.Gly1007=) c.2109C>A (p.Gly703=) c.3870C>A (p.Gly1290=) n.6656C>A c.3984C>A (p.Gly1328=) | |
16 | g.48167575C>A | CA395804322 | ABCC11 | c.3977G>T (p.Gly1326Val) c.3863G>T (p.Gly1288Val) n.1277G>T c.3779G>T (p.Gly1260Val) c.3020G>T (p.Gly1007Val) c.2108G>T (p.Gly703Val) c.3869G>T (p.Gly1290Val) n.6655G>T c.3983G>T (p.Gly1328Val) | dbSNP gnomAD v4 |
16 | g.48167575C>G | CA395804325 | ABCC11 | c.3977G>C (p.Gly1326Ala) c.3863G>C (p.Gly1288Ala) n.1277G>C c.3779G>C (p.Gly1260Ala) c.3020G>C (p.Gly1007Ala) c.2108G>C (p.Gly703Ala) c.3869G>C (p.Gly1290Ala) n.6655G>C c.3983G>C (p.Gly1328Ala) | gnomAD v4 COSMIC |
16 | g.48167575C>T | CA395804327 | ABCC11 | c.3977G>A (p.Gly1326Asp) c.3863G>A (p.Gly1288Asp) n.1277G>A c.3779G>A (p.Gly1260Asp) c.3020G>A (p.Gly1007Asp) c.2108G>A (p.Gly703Asp) c.3869G>A (p.Gly1290Asp) n.6655G>A c.3983G>A (p.Gly1328Asp) | dbSNP gnomAD v4 |
16 | g.48167576C>A | CA395804335 | ABCC11 | c.3976G>T (p.Gly1326Cys) c.3862G>T (p.Gly1288Cys) n.1276G>T c.3778G>T (p.Gly1260Cys) c.3019G>T (p.Gly1007Cys) c.2107G>T (p.Gly703Cys) c.3868G>T (p.Gly1290Cys) n.6654G>T c.3982G>T (p.Gly1328Cys) | |
16 | g.48167576C>G | CA395804329 | ABCC11 | c.3976G>C (p.Gly1326Arg) c.3862G>C (p.Gly1288Arg) n.1276G>C c.3778G>C (p.Gly1260Arg) c.3019G>C (p.Gly1007Arg) c.2107G>C (p.Gly703Arg) c.3868G>C (p.Gly1290Arg) n.6654G>C c.3982G>C (p.Gly1328Arg) | |
16 | g.48167576C>T | CA395804332 | ABCC11 | c.3976G>A (p.Gly1326Ser) c.3862G>A (p.Gly1288Ser) n.1276G>A c.3778G>A (p.Gly1260Ser) c.3019G>A (p.Gly1007Ser) c.2107G>A (p.Gly703Ser) c.3868G>A (p.Gly1290Ser) n.6654G>A c.3982G>A (p.Gly1328Ser) | |
16 | g.48167577C>A | CA395804338 | ABCC11 | c.3975G>T (p.Gln1325His) c.3861G>T (p.Gln1287His) n.1275G>T c.3777G>T (p.Gln1259His) c.3018G>T (p.Gln1006His) c.2106G>T (p.Gln702His) c.3867G>T (p.Gln1289His) n.6653G>T c.3981G>T (p.Gln1327His) | |
16 | g.48167577C= | CA2220652437 | ABCC11 | c.3975G= (p.Gln1325=) c.3861G= (p.Gln1287=) n.1275G= c.3777G= (p.Gln1259=) c.3018G= (p.Gln1006=) c.2106G= (p.Gln702=) c.3867G= (p.Gln1289=) n.6653G= c.3981G= (p.Gln1327=) | |
16 | g.48167577C>G | CA395804339 | ABCC11 | c.3975G>C (p.Gln1325His) c.3861G>C (p.Gln1287His) n.1275G>C c.3777G>C (p.Gln1259His) c.3018G>C (p.Gln1006His) c.2106G>C (p.Gln702His) c.3867G>C (p.Gln1289His) n.6653G>C c.3981G>C (p.Gln1327His) | |
16 | g.48167577C>T | CA495442664 | ABCC11 | c.3975G>A (p.Gln1325=) c.3861G>A (p.Gln1287=) n.1275G>A c.3777G>A (p.Gln1259=) c.3018G>A (p.Gln1006=) c.2106G>A (p.Gln702=) c.3867G>A (p.Gln1289=) n.6653G>A c.3981G>A (p.Gln1327=) | dbSNP |
16 | g.48167578T>A | CA395804341 | ABCC11 | c.3974A>T (p.Gln1325Leu) c.3860A>T (p.Gln1287Leu) n.1274A>T c.3776A>T (p.Gln1259Leu) c.3017A>T (p.Gln1006Leu) c.2105A>T (p.Gln702Leu) c.3866A>T (p.Gln1289Leu) n.6652A>T c.3980A>T (p.Gln1327Leu) | |
16 | g.48167578T>C | CA8042959 | ABCC11 | c.3974A>G (p.Gln1325Arg) c.3860A>G (p.Gln1287Arg) n.1274A>G c.3776A>G (p.Gln1259Arg) c.3017A>G (p.Gln1006Arg) c.2105A>G (p.Gln702Arg) c.3866A>G (p.Gln1289Arg) n.6652A>G c.3980A>G (p.Gln1327Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167578T>G | CA395804345 | ABCC11 | c.3974A>C (p.Gln1325Pro) c.3860A>C (p.Gln1287Pro) n.1274A>C c.3776A>C (p.Gln1259Pro) c.3017A>C (p.Gln1006Pro) c.2105A>C (p.Gln702Pro) c.3866A>C (p.Gln1289Pro) n.6652A>C c.3980A>C (p.Gln1327Pro) | |
16 | g.48167578T= | CA2220652439 | ABCC11 | c.3974A= (p.Gln1325=) c.3860A= (p.Gln1287=) n.1274A= c.3776A= (p.Gln1259=) c.3017A= (p.Gln1006=) c.2105A= (p.Gln702=) c.3866A= (p.Gln1289=) n.6652A= c.3980A= (p.Gln1327=) | |
16 | g.48167579G>A | CA395804347 | ABCC11 | c.3973C>T (p.Gln1325Ter) c.3859C>T (p.Gln1287Ter) n.1273C>T c.3775C>T (p.Gln1259Ter) c.3016C>T (p.Gln1006Ter) c.2104C>T (p.Gln702Ter) c.3865C>T (p.Gln1289Ter) n.6651C>T c.3979C>T (p.Gln1327Ter) | |
16 | g.48167579G>C | CA8042960 | ABCC11 | c.3973C>G (p.Gln1325Glu) c.3859C>G (p.Gln1287Glu) n.1273C>G c.3775C>G (p.Gln1259Glu) c.3016C>G (p.Gln1006Glu) c.2104C>G (p.Gln702Glu) c.3865C>G (p.Gln1289Glu) n.6651C>G c.3979C>G (p.Gln1327Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167579G= | CA2220652444 | ABCC11 | c.3973C= (p.Gln1325=) c.3859C= (p.Gln1287=) n.1273C= c.3775C= (p.Gln1259=) c.3016C= (p.Gln1006=) c.2104C= (p.Gln702=) c.3865C= (p.Gln1289=) n.6651C= c.3979C= (p.Gln1327=) | |
16 | g.48167579G>T | CA395804350 | ABCC11 | c.3973C>A (p.Gln1325Lys) c.3859C>A (p.Gln1287Lys) n.1273C>A c.3775C>A (p.Gln1259Lys) c.3016C>A (p.Gln1006Lys) c.2104C>A (p.Gln702Lys) c.3865C>A (p.Gln1289Lys) n.6651C>A c.3979C>A (p.Gln1327Lys) | |
16 | g.48167580G>A | CA495442665 | ABCC11 | c.3972C>T (p.Phe1324=) c.3858C>T (p.Phe1286=) n.1272C>T c.3774C>T (p.Phe1258=) c.3015C>T (p.Phe1005=) c.2103C>T (p.Phe701=) c.3864C>T (p.Phe1288=) n.6650C>T c.3978C>T (p.Phe1326=) | |
16 | g.48167580G>C | CA395804355 | ABCC11 | c.3972C>G (p.Phe1324Leu) c.3858C>G (p.Phe1286Leu) n.1272C>G c.3774C>G (p.Phe1258Leu) c.3015C>G (p.Phe1005Leu) c.2103C>G (p.Phe701Leu) c.3864C>G (p.Phe1288Leu) n.6650C>G c.3978C>G (p.Phe1326Leu) | |
16 | g.48167580G>T | CA395804358 | ABCC11 | c.3972C>A (p.Phe1324Leu) c.3858C>A (p.Phe1286Leu) n.1272C>A c.3774C>A (p.Phe1258Leu) c.3015C>A (p.Phe1005Leu) c.2103C>A (p.Phe701Leu) c.3864C>A (p.Phe1288Leu) n.6650C>A c.3978C>A (p.Phe1326Leu) | dbSNP |
16 | g.48167581A= | CA2220652447 | ABCC11 | c.3971T= (p.Phe1324=) c.3857T= (p.Phe1286=) n.1271T= c.3773T= (p.Phe1258=) c.3014T= (p.Phe1005=) c.2102T= (p.Phe701=) c.3863T= (p.Phe1288=) n.6649T= c.3977T= (p.Phe1326=) | |
16 | g.48167581A>C | CA395804361 | ABCC11 | c.3971T>G (p.Phe1324Cys) c.3857T>G (p.Phe1286Cys) n.1271T>G c.3773T>G (p.Phe1258Cys) c.3014T>G (p.Phe1005Cys) c.2102T>G (p.Phe701Cys) c.3863T>G (p.Phe1288Cys) n.6649T>G c.3977T>G (p.Phe1326Cys) | |
16 | g.48167581A>G | CA8042961 | ABCC11 | c.3971T>C (p.Phe1324Ser) c.3857T>C (p.Phe1286Ser) n.1271T>C c.3773T>C (p.Phe1258Ser) c.3014T>C (p.Phe1005Ser) c.2102T>C (p.Phe701Ser) c.3863T>C (p.Phe1288Ser) n.6649T>C c.3977T>C (p.Phe1326Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167581A>T | CA395804364 | ABCC11 | c.3971T>A (p.Phe1324Tyr) c.3857T>A (p.Phe1286Tyr) n.1271T>A c.3773T>A (p.Phe1258Tyr) c.3014T>A (p.Phe1005Tyr) c.2102T>A (p.Phe701Tyr) c.3863T>A (p.Phe1288Tyr) n.6649T>A c.3977T>A (p.Phe1326Tyr) | dbSNP |
16 | g.48167582A>C | CA395804367 | ABCC11 | c.3970T>G (p.Phe1324Val) c.3856T>G (p.Phe1286Val) n.1270T>G c.3772T>G (p.Phe1258Val) c.3013T>G (p.Phe1005Val) c.2101T>G (p.Phe701Val) c.3862T>G (p.Phe1288Val) n.6648T>G c.3976T>G (p.Phe1326Val) | |
16 | g.48167582A>G | CA395804369 | ABCC11 | c.3970T>C (p.Phe1324Leu) c.3856T>C (p.Phe1286Leu) n.1270T>C c.3772T>C (p.Phe1258Leu) c.3013T>C (p.Phe1005Leu) c.2101T>C (p.Phe701Leu) c.3862T>C (p.Phe1288Leu) n.6648T>C c.3976T>C (p.Phe1326Leu) | |
16 | g.48167582A>T | CA395804372 | ABCC11 | c.3970T>A (p.Phe1324Ile) c.3856T>A (p.Phe1286Ile) n.1270T>A c.3772T>A (p.Phe1258Ile) c.3013T>A (p.Phe1005Ile) c.2101T>A (p.Phe701Ile) c.3862T>A (p.Phe1288Ile) n.6648T>A c.3976T>A (p.Phe1326Ile) | |
16 | g.48167583G>A | CA495442666 | ABCC11 | c.3969C>T (p.Ala1323=) c.3855C>T (p.Ala1285=) n.1269C>T c.3771C>T (p.Ala1257=) c.3012C>T (p.Ala1004=) c.2100C>T (p.Ala700=) c.3861C>T (p.Ala1287=) n.6647C>T c.3975C>T (p.Ala1325=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167583G>C | CA495442667 | ABCC11 | c.3969C>G (p.Ala1323=) c.3855C>G (p.Ala1285=) n.1269C>G c.3771C>G (p.Ala1257=) c.3012C>G (p.Ala1004=) c.2100C>G (p.Ala700=) c.3861C>G (p.Ala1287=) n.6647C>G c.3975C>G (p.Ala1325=) | |
16 | g.48167583G= | CA2220652456 | ABCC11 | c.3969C= (p.Ala1323=) c.3855C= (p.Ala1285=) n.1269C= c.3771C= (p.Ala1257=) c.3012C= (p.Ala1004=) c.2100C= (p.Ala700=) c.3861C= (p.Ala1287=) n.6647C= c.3975C= (p.Ala1325=) | |
16 | g.48167583G>T | CA495442668 | ABCC11 | c.3969C>A (p.Ala1323=) c.3855C>A (p.Ala1285=) n.1269C>A c.3771C>A (p.Ala1257=) c.3012C>A (p.Ala1004=) c.2100C>A (p.Ala700=) c.3861C>A (p.Ala1287=) n.6647C>A c.3975C>A (p.Ala1325=) | |
16 | g.48167584G>A | CA395804375 | ABCC11 | c.3968C>T (p.Ala1323Val) c.3854C>T (p.Ala1285Val) n.1268C>T c.3770C>T (p.Ala1257Val) c.3011C>T (p.Ala1004Val) c.2099C>T (p.Ala700Val) c.3860C>T (p.Ala1287Val) n.6646C>T c.3974C>T (p.Ala1325Val) | dbSNP |
16 | g.48167584G>C | CA395804377 | ABCC11 | c.3968C>G (p.Ala1323Gly) c.3854C>G (p.Ala1285Gly) n.1268C>G c.3770C>G (p.Ala1257Gly) c.3011C>G (p.Ala1004Gly) c.2099C>G (p.Ala700Gly) c.3860C>G (p.Ala1287Gly) n.6646C>G c.3974C>G (p.Ala1325Gly) | gnomAD v4 |
16 | g.48167584G= | CA2220652472 | ABCC11 | c.3968C= (p.Ala1323=) c.3854C= (p.Ala1285=) n.1268C= c.3770C= (p.Ala1257=) c.3011C= (p.Ala1004=) c.2099C= (p.Ala700=) c.3860C= (p.Ala1287=) n.6646C= c.3974C= (p.Ala1325=) | |
16 | g.48167584G>T | CA395804381 | ABCC11 | c.3968C>A (p.Ala1323Asp) c.3854C>A (p.Ala1285Asp) n.1268C>A c.3770C>A (p.Ala1257Asp) c.3011C>A (p.Ala1004Asp) c.2099C>A (p.Ala700Asp) c.3860C>A (p.Ala1287Asp) n.6646C>A c.3974C>A (p.Ala1325Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.48167585C>A | CA395804389 | ABCC11 | c.3967G>T (p.Ala1323Ser) c.3853G>T (p.Ala1285Ser) n.1267G>T c.3769G>T (p.Ala1257Ser) c.3010G>T (p.Ala1004Ser) c.2098G>T (p.Ala700Ser) c.3859G>T (p.Ala1287Ser) n.6645G>T c.3973G>T (p.Ala1325Ser) | |
16 | g.48167585C= | CA2220652490 | ABCC11 | c.3967G= (p.Ala1323=) c.3853G= (p.Ala1285=) n.1267G= c.3769G= (p.Ala1257=) c.3010G= (p.Ala1004=) c.2098G= (p.Ala700=) c.3859G= (p.Ala1287=) n.6645G= c.3973G= (p.Ala1325=) | |
16 | g.48167585C>G | CA395804392 | ABCC11 | c.3967G>C (p.Ala1323Pro) c.3853G>C (p.Ala1285Pro) n.1267G>C c.3769G>C (p.Ala1257Pro) c.3010G>C (p.Ala1004Pro) c.2098G>C (p.Ala700Pro) c.3859G>C (p.Ala1287Pro) n.6645G>C c.3973G>C (p.Ala1325Pro) | gnomAD v4 |
16 | g.48167585C>T | CA395804385 | ABCC11 | c.3967G>A (p.Ala1323Thr) c.3853G>A (p.Ala1285Thr) n.1267G>A c.3769G>A (p.Ala1257Thr) c.3010G>A (p.Ala1004Thr) c.2098G>A (p.Ala700Thr) c.3859G>A (p.Ala1287Thr) n.6645G>A c.3973G>A (p.Ala1325Thr) | dbSNP |
16 | g.48167586T>A | CA395804396 | ABCC11 | c.3966A>T (p.Glu1322Asp) c.3852A>T (p.Glu1284Asp) n.1266A>T c.3768A>T (p.Glu1256Asp) c.3009A>T (p.Glu1003Asp) c.2097A>T (p.Glu699Asp) c.3858A>T (p.Glu1286Asp) n.6644A>T c.3972A>T (p.Glu1324Asp) | |
16 | g.48167586T>C | CA495442669 | ABCC11 | c.3966A>G (p.Glu1322=) c.3852A>G (p.Glu1284=) n.1266A>G c.3768A>G (p.Glu1256=) c.3009A>G (p.Glu1003=) c.2097A>G (p.Glu699=) c.3858A>G (p.Glu1286=) n.6644A>G c.3972A>G (p.Glu1324=) | |
16 | g.48167586T>G | CA395804398 | ABCC11 | c.3966A>C (p.Glu1322Asp) c.3852A>C (p.Glu1284Asp) n.1266A>C c.3768A>C (p.Glu1256Asp) c.3009A>C (p.Glu1003Asp) c.2097A>C (p.Glu699Asp) c.3858A>C (p.Glu1286Asp) n.6644A>C c.3972A>C (p.Glu1324Asp) | |
16 | g.48167586_48167613delinsTTCACGGATTGTGCGCTGGATCAGGGTG | CA2220652495 | ABCC11 | c.3939_3966delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1313=) c.3825_3852delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1275=) n.1239_1266delinsCACCCTGATCCAGCGCACAATCCGTGAA c.3741_3768delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1247=) c.2982_3009delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp994=) c.2070_2097delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp690=) c.3831_3858delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1277=) n.6617_6644delinsCACCCTGATCCAGCGCACAATCCGTGAA c.3945_3972delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1315=) | |
16 | g.48167587T>A | CA395804400 | ABCC11 | c.3965A>T (p.Glu1322Val) c.3851A>T (p.Glu1284Val) n.1265A>T c.3767A>T (p.Glu1256Val) c.3008A>T (p.Glu1003Val) c.2096A>T (p.Glu699Val) c.3857A>T (p.Glu1286Val) n.6643A>T c.3971A>T (p.Glu1324Val) | |
16 | g.48167587T>C | CA395804405 | ABCC11 | c.3965A>G (p.Glu1322Gly) c.3851A>G (p.Glu1284Gly) n.1265A>G c.3767A>G (p.Glu1256Gly) c.3008A>G (p.Glu1003Gly) c.2096A>G (p.Glu699Gly) c.3857A>G (p.Glu1286Gly) n.6643A>G c.3971A>G (p.Glu1324Gly) | |
16 | g.48167587T>G | CA395804407 | ABCC11 | c.3965A>C (p.Glu1322Ala) c.3851A>C (p.Glu1284Ala) n.1265A>C c.3767A>C (p.Glu1256Ala) c.3008A>C (p.Glu1003Ala) c.2096A>C (p.Glu699Ala) c.3857A>C (p.Glu1286Ala) n.6643A>C c.3971A>C (p.Glu1324Ala) | |
16 | g.48167589_48167615dup | CA2220652502 | ABCC11 | c.3939_3965dup (p.Arg1321_Glu1322insAspThrLeuIleGlnArgThrIleArg) c.3825_3851dup (p.Arg1283_Glu1284insAspThrLeuIleGlnArgThrIleArg) n.1239_1265dup c.3741_3767dup (p.Arg1255_Glu1256insAspThrLeuIleGlnArgThrIleArg) c.2982_3008dup (p.Arg1002_Glu1003insAspThrLeuIleGlnArgThrIleArg) c.2070_2096dup (p.Arg698_Glu699insAspThrLeuIleGlnArgThrIleArg) c.3831_3857dup (p.Arg1285_Glu1286insAspThrLeuIleGlnArgThrIleArg) n.6617_6643dup c.3945_3971dup (p.Arg1323_Glu1324insAspThrLeuIleGlnArgThrIleArg) | dbSNP |
16 | g.48167589_48167615del | CA116355 | ABCC11 | c.3939_3965del (p.Asp1313_Arg1321del) c.3825_3851del (p.Asp1275_Arg1283del) n.1239_1265del c.3741_3767del (p.Asp1247_Arg1255del) c.2982_3008del (p.Asp994_Arg1002del) c.2070_2096del (p.Asp690_Arg698del) c.3831_3857del (p.Asp1277_Arg1285del) n.6617_6643del c.3945_3971del (p.Asp1315_Arg1323del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167588C>A | CA395804409 | ABCC11 | c.3964G>T (p.Glu1322Ter) c.3850G>T (p.Glu1284Ter) n.1264G>T c.3766G>T (p.Glu1256Ter) c.3007G>T (p.Glu1003Ter) c.2095G>T (p.Glu699Ter) c.3856G>T (p.Glu1286Ter) n.6642G>T c.3970G>T (p.Glu1324Ter) | |
16 | g.48167588C>G | CA395804410 | ABCC11 | c.3964G>C (p.Glu1322Gln) c.3850G>C (p.Glu1284Gln) n.1264G>C c.3766G>C (p.Glu1256Gln) c.3007G>C (p.Glu1003Gln) c.2095G>C (p.Glu699Gln) c.3856G>C (p.Glu1286Gln) n.6642G>C c.3970G>C (p.Glu1324Gln) | dbSNP |
16 | g.48167588C>T | CA395804412 | ABCC11 | c.3964G>A (p.Glu1322Lys) c.3850G>A (p.Glu1284Lys) n.1264G>A c.3766G>A (p.Glu1256Lys) c.3007G>A (p.Glu1003Lys) c.2095G>A (p.Glu699Lys) c.3856G>A (p.Glu1286Lys) n.6642G>A c.3970G>A (p.Glu1324Lys) | |
16 | g.48167589A>C | CA495442671 | ABCC11 | c.3963T>G (p.Arg1321=) c.3849T>G (p.Arg1283=) n.1263T>G c.3765T>G (p.Arg1255=) c.3006T>G (p.Arg1002=) c.2094T>G (p.Arg698=) c.3855T>G (p.Arg1285=) n.6641T>G c.3969T>G (p.Arg1323=) | |
16 | g.48167589A>G | CA495442672 | ABCC11 | c.3963T>C (p.Arg1321=) c.3849T>C (p.Arg1283=) n.1263T>C c.3765T>C (p.Arg1255=) c.3006T>C (p.Arg1002=) c.2094T>C (p.Arg698=) c.3855T>C (p.Arg1285=) n.6641T>C c.3969T>C (p.Arg1323=) | |
16 | g.48167589A>T | CA495442670 | ABCC11 | c.3963T>A (p.Arg1321=) c.3849T>A (p.Arg1283=) n.1263T>A c.3765T>A (p.Arg1255=) c.3006T>A (p.Arg1002=) c.2094T>A (p.Arg698=) c.3855T>A (p.Arg1285=) n.6641T>A c.3969T>A (p.Arg1323=) | |
16 | g.48167590C>A | CA395804415 | ABCC11 | c.3962G>T (p.Arg1321Leu) c.3848G>T (p.Arg1283Leu) n.1262G>T c.3764G>T (p.Arg1255Leu) c.3005G>T (p.Arg1002Leu) c.2093G>T (p.Arg698Leu) c.3854G>T (p.Arg1285Leu) n.6640G>T c.3968G>T (p.Arg1323Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.48167590C= | CA2220652505 | ABCC11 | c.3962G= (p.Arg1321=) c.3848G= (p.Arg1283=) n.1262G= c.3764G= (p.Arg1255=) c.3005G= (p.Arg1002=) c.2093G= (p.Arg698=) c.3854G= (p.Arg1285=) n.6640G= c.3968G= (p.Arg1323=) | |
16 | g.48167590C>G | CA395804417 | ABCC11 | c.3962G>C (p.Arg1321Pro) c.3848G>C (p.Arg1283Pro) n.1262G>C c.3764G>C (p.Arg1255Pro) c.3005G>C (p.Arg1002Pro) c.2093G>C (p.Arg698Pro) c.3854G>C (p.Arg1285Pro) n.6640G>C c.3968G>C (p.Arg1323Pro) | dbSNP |
16 | g.48167590C>T | CA8042962 | ABCC11 | c.3962G>A (p.Arg1321His) c.3848G>A (p.Arg1283His) n.1262G>A c.3764G>A (p.Arg1255His) c.3005G>A (p.Arg1002His) c.2093G>A (p.Arg698His) c.3854G>A (p.Arg1285His) n.6640G>A c.3968G>A (p.Arg1323His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167591G>A | CA8042964 | ABCC11 | c.3961C>T (p.Arg1321Cys) c.3847C>T (p.Arg1283Cys) n.1261C>T c.3763C>T (p.Arg1255Cys) c.3004C>T (p.Arg1002Cys) c.2092C>T (p.Arg698Cys) c.3853C>T (p.Arg1285Cys) n.6639C>T c.3967C>T (p.Arg1323Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48167591G>C | CA8042963 | ABCC11 | c.3961C>G (p.Arg1321Gly) c.3847C>G (p.Arg1283Gly) n.1261C>G c.3763C>G (p.Arg1255Gly) c.3004C>G (p.Arg1002Gly) c.2092C>G (p.Arg698Gly) c.3853C>G (p.Arg1285Gly) n.6639C>G c.3967C>G (p.Arg1323Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167591G= | CA2220652516 | ABCC11 | c.3961C= (p.Arg1321=) c.3847C= (p.Arg1283=) n.1261C= c.3763C= (p.Arg1255=) c.3004C= (p.Arg1002=) c.2092C= (p.Arg698=) c.3853C= (p.Arg1285=) n.6639C= c.3967C= (p.Arg1323=) | |
16 | g.48167591G>T | CA280260613 | ABCC11 | c.3961C>A (p.Arg1321Ser) c.3847C>A (p.Arg1283Ser) n.1261C>A c.3763C>A (p.Arg1255Ser) c.3004C>A (p.Arg1002Ser) c.2092C>A (p.Arg698Ser) c.3853C>A (p.Arg1285Ser) n.6639C>A c.3967C>A (p.Arg1323Ser) | dbSNP |
16 | g.48167592G>A | CA495442673 | ABCC11 | c.3960C>T (p.Ile1320=) c.3846C>T (p.Ile1282=) n.1260C>T c.3762C>T (p.Ile1254=) c.3003C>T (p.Ile1001=) c.2091C>T (p.Ile697=) c.3852C>T (p.Ile1284=) n.6638C>T c.3966C>T (p.Ile1322=) | |
16 | g.48167592G>C | CA395804423 | ABCC11 | c.3960C>G (p.Ile1320Met) c.3846C>G (p.Ile1282Met) n.1260C>G c.3762C>G (p.Ile1254Met) c.3003C>G (p.Ile1001Met) c.2091C>G (p.Ile697Met) c.3852C>G (p.Ile1284Met) n.6638C>G c.3966C>G (p.Ile1322Met) | |
16 | g.48167592G= | CA2220652525 | ABCC11 | c.3960C= (p.Ile1320=) c.3846C= (p.Ile1282=) n.1260C= c.3762C= (p.Ile1254=) c.3003C= (p.Ile1001=) c.2091C= (p.Ile697=) c.3852C= (p.Ile1284=) n.6638C= c.3966C= (p.Ile1322=) | |
16 | g.48167592G>T | CA8042965 | ABCC11 | c.3960C>A (p.Ile1320=) c.3846C>A (p.Ile1282=) n.1260C>A c.3762C>A (p.Ile1254=) c.3003C>A (p.Ile1001=) c.2091C>A (p.Ile697=) c.3852C>A (p.Ile1284=) n.6638C>A c.3966C>A (p.Ile1322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48167593A>C | CA395804427 | ABCC11 | c.3959T>G (p.Ile1320Ser) c.3845T>G (p.Ile1282Ser) n.1259T>G c.3761T>G (p.Ile1254Ser) c.3002T>G (p.Ile1001Ser) c.2090T>G (p.Ile697Ser) c.3851T>G (p.Ile1284Ser) n.6637T>G c.3965T>G (p.Ile1322Ser) | |
16 | g.48167593A>G | CA395804430 | ABCC11 | c.3959T>C (p.Ile1320Thr) c.3845T>C (p.Ile1282Thr) n.1259T>C c.3761T>C (p.Ile1254Thr) c.3002T>C (p.Ile1001Thr) c.2090T>C (p.Ile697Thr) c.3851T>C (p.Ile1284Thr) n.6637T>C c.3965T>C (p.Ile1322Thr) | |
16 | g.48167593A>T | CA395804428 | ABCC11 | c.3959T>A (p.Ile1320Asn) c.3845T>A (p.Ile1282Asn) n.1259T>A c.3761T>A (p.Ile1254Asn) c.3002T>A (p.Ile1001Asn) c.2090T>A (p.Ile697Asn) c.3851T>A (p.Ile1284Asn) n.6637T>A c.3965T>A (p.Ile1322Asn) | COSMIC |
16 | g.48167594T>A | CA395804433 | ABCC11 | c.3958A>T (p.Ile1320Phe) c.3844A>T (p.Ile1282Phe) n.1258A>T c.3760A>T (p.Ile1254Phe) c.3001A>T (p.Ile1001Phe) c.2089A>T (p.Ile697Phe) c.3850A>T (p.Ile1284Phe) n.6636A>T c.3964A>T (p.Ile1322Phe) | |
16 | g.48167594T>C | CA395804434 | ABCC11 | c.3958A>G (p.Ile1320Val) c.3844A>G (p.Ile1282Val) n.1258A>G c.3760A>G (p.Ile1254Val) c.3001A>G (p.Ile1001Val) c.2089A>G (p.Ile697Val) c.3850A>G (p.Ile1284Val) n.6636A>G c.3964A>G (p.Ile1322Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.48167594T>G | CA395804437 | ABCC11 | c.3958A>C (p.Ile1320Leu) c.3844A>C (p.Ile1282Leu) n.1258A>C c.3760A>C (p.Ile1254Leu) c.3001A>C (p.Ile1001Leu) c.2089A>C (p.Ile697Leu) c.3850A>C (p.Ile1284Leu) n.6636A>C c.3964A>C (p.Ile1322Leu) | |
16 | g.48167594T= | CA2220652534 | ABCC11 | c.3958A= (p.Ile1320=) c.3844A= (p.Ile1282=) n.1258A= c.3760A= (p.Ile1254=) c.3001A= (p.Ile1001=) c.2089A= (p.Ile697=) c.3850A= (p.Ile1284=) n.6636A= c.3964A= (p.Ile1322=) | |
16 | g.48167595T>A | CA495442674 | ABCC11 | c.3957A>T (p.Thr1319=) c.3843A>T (p.Thr1281=) n.1257A>T c.3759A>T (p.Thr1253=) c.3000A>T (p.Thr1000=) c.2088A>T (p.Thr696=) c.3849A>T (p.Thr1283=) n.6635A>T c.3963A>T (p.Thr1321=) | |
16 | g.48167595T>C | CA495442675 | ABCC11 | c.3957A>G (p.Thr1319=) c.3843A>G (p.Thr1281=) n.1257A>G c.3759A>G (p.Thr1253=) c.3000A>G (p.Thr1000=) c.2088A>G (p.Thr696=) c.3849A>G (p.Thr1283=) n.6635A>G c.3963A>G (p.Thr1321=) | |
16 | g.48167595T>G | CA495442676 | ABCC11 | c.3957A>C (p.Thr1319=) c.3843A>C (p.Thr1281=) n.1257A>C c.3759A>C (p.Thr1253=) c.3000A>C (p.Thr1000=) c.2088A>C (p.Thr696=) c.3849A>C (p.Thr1283=) n.6635A>C c.3963A>C (p.Thr1321=) |