UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51937348_51937349delinsTC | CA2091553470 | ATP7B | c.*1598_*1599delinsGA (n.*1598_*1599delinsGA) c.*2692_*2693delinsGA (n.*2692_*2693delinsGA) c.3327_3328delinsGA (p.Arg1109=) c.3948_3949delinsGA (p.Arg1316=) c.3615_3616delinsGA (p.Arg1205=) c.3696_3697delinsGA (p.Arg1232=) n.1271_1272delinsGA c.3714_3715delinsGA (p.Arg1238=) n.4087_4088delinsGA n.814_815delinsGA c.2883_2884delinsGA (p.Arg961=) c.2658_2659delinsGA (p.Arg886=) c.3753_3754delinsGA (p.Arg1251=) c.1726_1727delinsGA c.*1049_*1050delinsGA (n.*1049_*1050delinsGA) n.4692_4693delinsGA n.3293_3294delinsGA c.3804_3805delinsGA (p.Arg1268=) c.3852_3853delinsGA (p.Arg1284=) c.3912_3913delinsGA (p.Arg1304=) c.3462_3463delinsGA (p.Arg1154=) c.1764_1765delinsGA (p.Arg588=) c.1581_1582delinsGA (p.Arg527=) c.3813_3814delinsGA (p.Arg1271=) c.3765_3766delinsGA (p.Arg1255=) c.3534_3535delinsGA (p.Arg1178=) c.3435_3436delinsGA (p.Arg1145=) c.2616_2617delinsGA (p.Arg872=) n.4167_4168delinsGA | |
| 13 | g.51937349C>A | CA388021117 | ATP7B | c.*1598G>T (n.*1598G>T) c.*2692G>T (n.*2692G>T) c.3327G>T (p.Arg1109Ser) c.3948G>T (p.Arg1316Ser) c.3615G>T (p.Arg1205Ser) c.3696G>T (p.Arg1232Ser) n.1271G>T c.3714G>T (p.Arg1238Ser) n.4087G>T n.814G>T c.2883G>T (p.Arg961Ser) c.2658G>T (p.Arg886Ser) c.3753G>T (p.Arg1251Ser) c.1726G>T c.*1049G>T (n.*1049G>T) n.4692G>T n.3293G>T c.3804G>T (p.Arg1268Ser) c.3852G>T (p.Arg1284Ser) c.3912G>T (p.Arg1304Ser) c.3462G>T (p.Arg1154Ser) c.1764G>T (p.Arg588Ser) c.1581G>T (p.Arg527Ser) c.3813G>T (p.Arg1271Ser) c.3765G>T (p.Arg1255Ser) c.3534G>T (p.Arg1178Ser) c.3435G>T (p.Arg1145Ser) c.2616G>T (p.Arg872Ser) n.4167G>T | |
| 13 | g.51937349C>G | CA388021118 | ATP7B | c.*1598G>C (n.*1598G>C) c.*2692G>C (n.*2692G>C) c.3327G>C (p.Arg1109Ser) c.3948G>C (p.Arg1316Ser) c.3615G>C (p.Arg1205Ser) c.3696G>C (p.Arg1232Ser) n.1271G>C c.3714G>C (p.Arg1238Ser) n.4087G>C n.814G>C c.2883G>C (p.Arg961Ser) c.2658G>C (p.Arg886Ser) c.3753G>C (p.Arg1251Ser) c.1726G>C c.*1049G>C (n.*1049G>C) n.4692G>C n.3293G>C c.3804G>C (p.Arg1268Ser) c.3852G>C (p.Arg1284Ser) c.3912G>C (p.Arg1304Ser) c.3462G>C (p.Arg1154Ser) c.1764G>C (p.Arg588Ser) c.1581G>C (p.Arg527Ser) c.3813G>C (p.Arg1271Ser) c.3765G>C (p.Arg1255Ser) c.3534G>C (p.Arg1178Ser) c.3435G>C (p.Arg1145Ser) c.2616G>C (p.Arg872Ser) n.4167G>C | |
| 13 | g.51937349C>T | CA484024237 | ATP7B | c.*1598G>A (n.*1598G>A) c.*2692G>A (n.*2692G>A) c.3327G>A (p.Arg1109=) c.3948G>A (p.Arg1316=) c.3615G>A (p.Arg1205=) c.3696G>A (p.Arg1232=) n.1271G>A c.3714G>A (p.Arg1238=) n.4087G>A n.814G>A c.2883G>A (p.Arg961=) c.2658G>A (p.Arg886=) c.3753G>A (p.Arg1251=) c.1726G>A c.*1049G>A (n.*1049G>A) n.4692G>A n.3293G>A c.3804G>A (p.Arg1268=) c.3852G>A (p.Arg1284=) c.3912G>A (p.Arg1304=) c.3462G>A (p.Arg1154=) c.1764G>A (p.Arg588=) c.1581G>A (p.Arg527=) c.3813G>A (p.Arg1271=) c.3765G>A (p.Arg1255=) c.3534G>A (p.Arg1178=) c.3435G>A (p.Arg1145=) c.2616G>A (p.Arg872=) n.4167G>A | |
| 13 | g.51937350del | CA16041661 | ATP7B | c.*1598del (n.*1598del) c.*2692del (n.*2692del) c.3327del (p.Thr1110LeufsTer13) c.3948del (p.Thr1317LeufsTer13) c.3615del (p.Thr1206LeufsTer13) c.3696del (p.Thr1233LeufsTer13) n.1271del c.3714del (p.Thr1239LeufsTer13) n.4087del n.814del c.2883del (p.Thr962LeufsTer13) c.2658del (p.Thr887LeufsTer13) c.3753del (p.Thr1252LeufsTer13) c.1726del c.*1049del (n.*1049del) n.4692del n.3293del c.3804del (p.Thr1269LeufsTer13) c.3852del (p.Thr1285LeufsTer13) c.3912del (p.Thr1305LeufsTer13) c.3462del (p.Thr1155LeufsTer13) c.1764del (p.Thr589LeufsTer13) c.1581del (p.Thr528LeufsTer13) c.3813del (p.Thr1272LeufsTer13) c.3765del (p.Thr1256LeufsTer13) c.3534del (p.Thr1179LeufsTer13) c.3435del (p.Thr1146LeufsTer13) c.2616del (p.Thr873LeufsTer13) n.4167del | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937350C>A | CA388021119 | ATP7B | c.*1597G>T (n.*1597G>T) c.*2691G>T (n.*2691G>T) c.3326G>T (p.Arg1109Met) c.3947G>T (p.Arg1316Met) c.3614G>T (p.Arg1205Met) c.3695G>T (p.Arg1232Met) n.1270G>T c.3713G>T (p.Arg1238Met) n.4086G>T n.813G>T c.2882G>T (p.Arg961Met) c.2657G>T (p.Arg886Met) c.3752G>T (p.Arg1251Met) c.1725G>T c.*1048G>T (n.*1048G>T) n.4691G>T n.3292G>T c.3803G>T (p.Arg1268Met) c.3851G>T (p.Arg1284Met) c.3911G>T (p.Arg1304Met) c.3461G>T (p.Arg1154Met) c.1763G>T (p.Arg588Met) c.1580G>T (p.Arg527Met) c.3812G>T (p.Arg1271Met) c.3764G>T (p.Arg1255Met) c.3533G>T (p.Arg1178Met) c.3434G>T (p.Arg1145Met) c.2615G>T (p.Arg872Met) n.4166G>T | |
| 13 | g.51937350C= | CA2091553479 | ATP7B | c.*1597G= (n.*1597G=) c.*2691G= (n.*2691G=) c.3326G= (p.Arg1109=) c.3947G= (p.Arg1316=) c.3614G= (p.Arg1205=) c.3695G= (p.Arg1232=) n.1270G= c.3713G= (p.Arg1238=) n.4086G= n.813G= c.2882G= (p.Arg961=) c.2657G= (p.Arg886=) c.3752G= (p.Arg1251=) c.1725G= c.*1048G= (n.*1048G=) n.4691G= n.3292G= c.3803G= (p.Arg1268=) c.3851G= (p.Arg1284=) c.3911G= (p.Arg1304=) c.3461G= (p.Arg1154=) c.1763G= (p.Arg588=) c.1580G= (p.Arg527=) c.3812G= (p.Arg1271=) c.3764G= (p.Arg1255=) c.3533G= (p.Arg1178=) c.3434G= (p.Arg1145=) c.2615G= (p.Arg872=) n.4166G= | |
| 13 | g.51937350C>G | CA388021121 | ATP7B | c.*1597G>C (n.*1597G>C) c.*2691G>C (n.*2691G>C) c.3326G>C (p.Arg1109Thr) c.3947G>C (p.Arg1316Thr) c.3614G>C (p.Arg1205Thr) c.3695G>C (p.Arg1232Thr) n.1270G>C c.3713G>C (p.Arg1238Thr) n.4086G>C n.813G>C c.2882G>C (p.Arg961Thr) c.2657G>C (p.Arg886Thr) c.3752G>C (p.Arg1251Thr) c.1725G>C c.*1048G>C (n.*1048G>C) n.4691G>C n.3292G>C c.3803G>C (p.Arg1268Thr) c.3851G>C (p.Arg1284Thr) c.3911G>C (p.Arg1304Thr) c.3461G>C (p.Arg1154Thr) c.1763G>C (p.Arg588Thr) c.1580G>C (p.Arg527Thr) c.3812G>C (p.Arg1271Thr) c.3764G>C (p.Arg1255Thr) c.3533G>C (p.Arg1178Thr) c.3434G>C (p.Arg1145Thr) c.2615G>C (p.Arg872Thr) n.4166G>C | |
| 13 | g.51937350C>T | CA388021122 | ATP7B | c.*1597G>A (n.*1597G>A) c.*2691G>A (n.*2691G>A) c.3326G>A (p.Arg1109Lys) c.3947G>A (p.Arg1316Lys) c.3614G>A (p.Arg1205Lys) c.3695G>A (p.Arg1232Lys) n.1270G>A c.3713G>A (p.Arg1238Lys) n.4086G>A n.813G>A c.2882G>A (p.Arg961Lys) c.2657G>A (p.Arg886Lys) c.3752G>A (p.Arg1251Lys) c.1725G>A c.*1048G>A (n.*1048G>A) n.4691G>A n.3292G>A c.3803G>A (p.Arg1268Lys) c.3851G>A (p.Arg1284Lys) c.3911G>A (p.Arg1304Lys) c.3461G>A (p.Arg1154Lys) c.1763G>A (p.Arg588Lys) c.1580G>A (p.Arg527Lys) c.3812G>A (p.Arg1271Lys) c.3764G>A (p.Arg1255Lys) c.3533G>A (p.Arg1178Lys) c.3434G>A (p.Arg1145Lys) c.2615G>A (p.Arg872Lys) n.4166G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937350_51937355delinsTCT | CA2499222484 | ATP7B | c.*1592_*1597delinsAGA (n.*1592_*1597delinsAGA) c.*2686_*2691delinsAGA (n.*2686_*2691delinsAGA) c.3321_3326delinsAGA (p.Lys1108_Arg1109delinsGlu) c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu) c.3609_3614delinsAGA (p.Lys1204_Arg1205delinsGlu) c.3690_3695delinsAGA (p.Lys1231_Arg1232delinsGlu) n.1265_1270delinsAGA c.3708_3713delinsAGA (p.Lys1237_Arg1238delinsGlu) n.4081_4086delinsAGA n.808_813delinsAGA c.2877_2882delinsAGA (p.Lys960_Arg961delinsGlu) c.2652_2657delinsAGA (p.Lys885_Arg886delinsGlu) c.3747_3752delinsAGA (p.Lys1250_Arg1251delinsGlu) c.1720_1725delinsAGA c.*1043_*1048delinsAGA (n.*1043_*1048delinsAGA) n.4686_4691delinsAGA n.3287_3292delinsAGA c.3798_3803delinsAGA (p.Lys1267_Arg1268delinsGlu) c.3846_3851delinsAGA (p.Lys1283_Arg1284delinsGlu) c.3906_3911delinsAGA (p.Lys1303_Arg1304delinsGlu) c.3456_3461delinsAGA (p.Lys1153_Arg1154delinsGlu) c.1758_1763delinsAGA (p.Lys587_Arg588delinsGlu) c.1575_1580delinsAGA (p.Lys526_Arg527delinsGlu) c.3807_3812delinsAGA (p.Lys1270_Arg1271delinsGlu) c.3759_3764delinsAGA (p.Lys1254_Arg1255delinsGlu) c.3528_3533delinsAGA (p.Lys1177_Arg1178delinsGlu) c.3429_3434delinsAGA (p.Lys1144_Arg1145delinsGlu) c.2610_2615delinsAGA (p.Lys871_Arg872delinsGlu) n.4161_4166delinsAGA | ClinVar dbSNP |
| 13 | g.51937351T>A | CA388021124 | ATP7B | c.*1596A>T (n.*1596A>T) c.*2690A>T (n.*2690A>T) c.3325A>T (p.Arg1109Trp) c.3946A>T (p.Arg1316Trp) c.3613A>T (p.Arg1205Trp) c.3694A>T (p.Arg1232Trp) n.1269A>T c.3712A>T (p.Arg1238Trp) n.4085A>T n.812A>T c.2881A>T (p.Arg961Trp) c.2656A>T (p.Arg886Trp) c.3751A>T (p.Arg1251Trp) c.1724A>T c.*1047A>T (n.*1047A>T) n.4690A>T n.3291A>T c.3802A>T (p.Arg1268Trp) c.3850A>T (p.Arg1284Trp) c.3910A>T (p.Arg1304Trp) c.3460A>T (p.Arg1154Trp) c.1762A>T (p.Arg588Trp) c.1579A>T (p.Arg527Trp) c.3811A>T (p.Arg1271Trp) c.3763A>T (p.Arg1255Trp) c.3532A>T (p.Arg1178Trp) c.3433A>T (p.Arg1145Trp) c.2614A>T (p.Arg872Trp) n.4165A>T | |
| 13 | g.51937351T>C | CA388021125 | ATP7B | c.*1596A>G (n.*1596A>G) c.*2690A>G (n.*2690A>G) c.3325A>G (p.Arg1109Gly) c.3946A>G (p.Arg1316Gly) c.3613A>G (p.Arg1205Gly) c.3694A>G (p.Arg1232Gly) n.1269A>G c.3712A>G (p.Arg1238Gly) n.4085A>G n.812A>G c.2881A>G (p.Arg961Gly) c.2656A>G (p.Arg886Gly) c.3751A>G (p.Arg1251Gly) c.1724A>G c.*1047A>G (n.*1047A>G) n.4690A>G n.3291A>G c.3802A>G (p.Arg1268Gly) c.3850A>G (p.Arg1284Gly) c.3910A>G (p.Arg1304Gly) c.3460A>G (p.Arg1154Gly) c.1762A>G (p.Arg588Gly) c.1579A>G (p.Arg527Gly) c.3811A>G (p.Arg1271Gly) c.3763A>G (p.Arg1255Gly) c.3532A>G (p.Arg1178Gly) c.3433A>G (p.Arg1145Gly) c.2614A>G (p.Arg872Gly) n.4165A>G | |
| 13 | g.51937351T>G | CA484024238 | ATP7B | c.*1596A>C (n.*1596A>C) c.*2690A>C (n.*2690A>C) c.3325A>C (p.Arg1109=) c.3946A>C (p.Arg1316=) c.3613A>C (p.Arg1205=) c.3694A>C (p.Arg1232=) n.1269A>C c.3712A>C (p.Arg1238=) n.4085A>C n.812A>C c.2881A>C (p.Arg961=) c.2656A>C (p.Arg886=) c.3751A>C (p.Arg1251=) c.1724A>C c.*1047A>C (n.*1047A>C) n.4690A>C n.3291A>C c.3802A>C (p.Arg1268=) c.3850A>C (p.Arg1284=) c.3910A>C (p.Arg1304=) c.3460A>C (p.Arg1154=) c.1762A>C (p.Arg588=) c.1579A>C (p.Arg527=) c.3811A>C (p.Arg1271=) c.3763A>C (p.Arg1255=) c.3532A>C (p.Arg1178=) c.3433A>C (p.Arg1145=) c.2614A>C (p.Arg872=) n.4165A>C | |
| 13 | g.51937352C>A | CA388021127 | ATP7B | c.*1595G>T (n.*1595G>T) c.*2689G>T (n.*2689G>T) c.3324G>T (p.Lys1108Asn) c.3945G>T (p.Lys1315Asn) c.3612G>T (p.Lys1204Asn) c.3693G>T (p.Lys1231Asn) n.1268G>T c.3711G>T (p.Lys1237Asn) n.4084G>T n.811G>T c.2880G>T (p.Lys960Asn) c.2655G>T (p.Lys885Asn) c.3750G>T (p.Lys1250Asn) c.1723G>T c.*1046G>T (n.*1046G>T) n.4689G>T n.3290G>T c.3801G>T (p.Lys1267Asn) c.3849G>T (p.Lys1283Asn) c.3909G>T (p.Lys1303Asn) c.3459G>T (p.Lys1153Asn) c.1761G>T (p.Lys587Asn) c.1578G>T (p.Lys526Asn) c.3810G>T (p.Lys1270Asn) c.3762G>T (p.Lys1254Asn) c.3531G>T (p.Lys1177Asn) c.3432G>T (p.Lys1144Asn) c.2613G>T (p.Lys871Asn) n.4164G>T | |
| 13 | g.51937352C= | CA2091553482 | ATP7B | c.*1595G= (n.*1595G=) c.*2689G= (n.*2689G=) c.3324G= (p.Lys1108=) c.3945G= (p.Lys1315=) c.3612G= (p.Lys1204=) c.3693G= (p.Lys1231=) n.1268G= c.3711G= (p.Lys1237=) n.4084G= n.811G= c.2880G= (p.Lys960=) c.2655G= (p.Lys885=) c.3750G= (p.Lys1250=) c.1723G= c.*1046G= (n.*1046G=) n.4689G= n.3290G= c.3801G= (p.Lys1267=) c.3849G= (p.Lys1283=) c.3909G= (p.Lys1303=) c.3459G= (p.Lys1153=) c.1761G= (p.Lys587=) c.1578G= (p.Lys526=) c.3810G= (p.Lys1270=) c.3762G= (p.Lys1254=) c.3531G= (p.Lys1177=) c.3432G= (p.Lys1144=) c.2613G= (p.Lys871=) n.4164G= | |
| 13 | g.51937352C>G | CA388021129 | ATP7B | c.*1595G>C (n.*1595G>C) c.*2689G>C (n.*2689G>C) c.3324G>C (p.Lys1108Asn) c.3945G>C (p.Lys1315Asn) c.3612G>C (p.Lys1204Asn) c.3693G>C (p.Lys1231Asn) n.1268G>C c.3711G>C (p.Lys1237Asn) n.4084G>C n.811G>C c.2880G>C (p.Lys960Asn) c.2655G>C (p.Lys885Asn) c.3750G>C (p.Lys1250Asn) c.1723G>C c.*1046G>C (n.*1046G>C) n.4689G>C n.3290G>C c.3801G>C (p.Lys1267Asn) c.3849G>C (p.Lys1283Asn) c.3909G>C (p.Lys1303Asn) c.3459G>C (p.Lys1153Asn) c.1761G>C (p.Lys587Asn) c.1578G>C (p.Lys526Asn) c.3810G>C (p.Lys1270Asn) c.3762G>C (p.Lys1254Asn) c.3531G>C (p.Lys1177Asn) c.3432G>C (p.Lys1144Asn) c.2613G>C (p.Lys871Asn) n.4164G>C | |
| 13 | g.51937352C>T | CA484024239 | ATP7B | c.*1595G>A (n.*1595G>A) c.*2689G>A (n.*2689G>A) c.3324G>A (p.Lys1108=) c.3945G>A (p.Lys1315=) c.3612G>A (p.Lys1204=) c.3693G>A (p.Lys1231=) n.1268G>A c.3711G>A (p.Lys1237=) n.4084G>A n.811G>A c.2880G>A (p.Lys960=) c.2655G>A (p.Lys885=) c.3750G>A (p.Lys1250=) c.1723G>A c.*1046G>A (n.*1046G>A) n.4689G>A n.3290G>A c.3801G>A (p.Lys1267=) c.3849G>A (p.Lys1283=) c.3909G>A (p.Lys1303=) c.3459G>A (p.Lys1153=) c.1761G>A (p.Lys587=) c.1578G>A (p.Lys526=) c.3810G>A (p.Lys1270=) c.3762G>A (p.Lys1254=) c.3531G>A (p.Lys1177=) c.3432G>A (p.Lys1144=) c.2613G>A (p.Lys871=) n.4164G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51937354_51937369del | CA2623119065 | ATP7B | c.*1580_*1595del (n.*1580_*1595del) c.*2674_*2689del (n.*2674_*2689del) c.3309_3324del (p.Ser1103ArgfsTer15) c.3930_3945del (p.Ser1310ArgfsTer15) c.3597_3612del (p.Ser1199ArgfsTer15) c.3678_3693del (p.Ser1226ArgfsTer15) n.1253_1268del c.3696_3711del (p.Ser1232ArgfsTer15) n.4069_4084del n.796_811del c.2865_2880del (p.Ser955ArgfsTer15) c.2640_2655del (p.Ser880ArgfsTer15) c.3735_3750del (p.Ser1245ArgfsTer15) c.1708_1723del c.*1031_*1046del (n.*1031_*1046del) n.4674_4689del n.3275_3290del c.3786_3801del (p.Ser1262ArgfsTer15) c.3834_3849del (p.Ser1278ArgfsTer15) c.3894_3909del (p.Ser1298ArgfsTer15) c.3444_3459del (p.Ser1148ArgfsTer15) c.1746_1761del (p.Ser582ArgfsTer15) c.1563_1578del (p.Ser521ArgfsTer15) c.3795_3810del (p.Ser1265ArgfsTer15) c.3747_3762del (p.Ser1249ArgfsTer15) c.3516_3531del (p.Ser1172ArgfsTer15) c.3417_3432del (p.Ser1139ArgfsTer15) c.2598_2613del (p.Ser866ArgfsTer15) n.4149_4164del | gnomAD v4 |
| 13 | g.51937353T>A | CA388021131 | ATP7B | c.*1594A>T (n.*1594A>T) c.*2688A>T (n.*2688A>T) c.3323A>T (p.Lys1108Met) c.3944A>T (p.Lys1315Met) c.3611A>T (p.Lys1204Met) c.3692A>T (p.Lys1231Met) n.1267A>T c.3710A>T (p.Lys1237Met) n.4083A>T n.810A>T c.2879A>T (p.Lys960Met) c.2654A>T (p.Lys885Met) c.3749A>T (p.Lys1250Met) c.1722A>T c.*1045A>T (n.*1045A>T) n.4688A>T n.3289A>T c.3800A>T (p.Lys1267Met) c.3848A>T (p.Lys1283Met) c.3908A>T (p.Lys1303Met) c.3458A>T (p.Lys1153Met) c.1760A>T (p.Lys587Met) c.1577A>T (p.Lys526Met) c.3809A>T (p.Lys1270Met) c.3761A>T (p.Lys1254Met) c.3530A>T (p.Lys1177Met) c.3431A>T (p.Lys1144Met) c.2612A>T (p.Lys871Met) n.4163A>T | |
| 13 | g.51937353T>C | CA388021132 | ATP7B | c.*1594A>G (n.*1594A>G) c.*2688A>G (n.*2688A>G) c.3323A>G (p.Lys1108Arg) c.3944A>G (p.Lys1315Arg) c.3611A>G (p.Lys1204Arg) c.3692A>G (p.Lys1231Arg) n.1267A>G c.3710A>G (p.Lys1237Arg) n.4083A>G n.810A>G c.2879A>G (p.Lys960Arg) c.2654A>G (p.Lys885Arg) c.3749A>G (p.Lys1250Arg) c.1722A>G c.*1045A>G (n.*1045A>G) n.4688A>G n.3289A>G c.3800A>G (p.Lys1267Arg) c.3848A>G (p.Lys1283Arg) c.3908A>G (p.Lys1303Arg) c.3458A>G (p.Lys1153Arg) c.1760A>G (p.Lys587Arg) c.1577A>G (p.Lys526Arg) c.3809A>G (p.Lys1270Arg) c.3761A>G (p.Lys1254Arg) c.3530A>G (p.Lys1177Arg) c.3431A>G (p.Lys1144Arg) c.2612A>G (p.Lys871Arg) n.4163A>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51937353T>G | CA388021133 | ATP7B | c.*1594A>C (n.*1594A>C) c.*2688A>C (n.*2688A>C) c.3323A>C (p.Lys1108Thr) c.3944A>C (p.Lys1315Thr) c.3611A>C (p.Lys1204Thr) c.3692A>C (p.Lys1231Thr) n.1267A>C c.3710A>C (p.Lys1237Thr) n.4083A>C n.810A>C c.2879A>C (p.Lys960Thr) c.2654A>C (p.Lys885Thr) c.3749A>C (p.Lys1250Thr) c.1722A>C c.*1045A>C (n.*1045A>C) n.4688A>C n.3289A>C c.3800A>C (p.Lys1267Thr) c.3848A>C (p.Lys1283Thr) c.3908A>C (p.Lys1303Thr) c.3458A>C (p.Lys1153Thr) c.1760A>C (p.Lys587Thr) c.1577A>C (p.Lys526Thr) c.3809A>C (p.Lys1270Thr) c.3761A>C (p.Lys1254Thr) c.3530A>C (p.Lys1177Thr) c.3431A>C (p.Lys1144Thr) c.2612A>C (p.Lys871Thr) n.4163A>C | |
| 13 | g.51937353T= | CA2091553488 | ATP7B | c.*1594A= (n.*1594A=) c.*2688A= (n.*2688A=) c.3323A= (p.Lys1108=) c.3944A= (p.Lys1315=) c.3611A= (p.Lys1204=) c.3692A= (p.Lys1231=) n.1267A= c.3710A= (p.Lys1237=) n.4083A= n.810A= c.2879A= (p.Lys960=) c.2654A= (p.Lys885=) c.3749A= (p.Lys1250=) c.1722A= c.*1045A= (n.*1045A=) n.4688A= n.3289A= c.3800A= (p.Lys1267=) c.3848A= (p.Lys1283=) c.3908A= (p.Lys1303=) c.3458A= (p.Lys1153=) c.1760A= (p.Lys587=) c.1577A= (p.Lys526=) c.3809A= (p.Lys1270=) c.3761A= (p.Lys1254=) c.3530A= (p.Lys1177=) c.3431A= (p.Lys1144=) c.2612A= (p.Lys871=) n.4163A= | |
| 13 | g.51937353_51937355delinsTTG | CA2091553487 | ATP7B | c.*1592_*1594delinsCAA (n.*1592_*1594delinsCAA) c.*2686_*2688delinsCAA (n.*2686_*2688delinsCAA) c.3321_3323delinsCAA (p.Ser1107=) c.3942_3944delinsCAA (p.Ser1314=) c.3609_3611delinsCAA (p.Ser1203=) c.3690_3692delinsCAA (p.Ser1230=) n.1265_1267delinsCAA c.3708_3710delinsCAA (p.Ser1236=) n.4081_4083delinsCAA n.808_810delinsCAA c.2877_2879delinsCAA (p.Ser959=) c.2652_2654delinsCAA (p.Ser884=) c.3747_3749delinsCAA (p.Ser1249=) c.1720_1722delinsCAA c.*1043_*1045delinsCAA (n.*1043_*1045delinsCAA) n.4686_4688delinsCAA n.3287_3289delinsCAA c.3798_3800delinsCAA (p.Ser1266=) c.3846_3848delinsCAA (p.Ser1282=) c.3906_3908delinsCAA (p.Ser1302=) c.3456_3458delinsCAA (p.Ser1152=) c.1758_1760delinsCAA (p.Ser586=) c.1575_1577delinsCAA (p.Ser525=) c.3807_3809delinsCAA (p.Ser1269=) c.3759_3761delinsCAA (p.Ser1253=) c.3528_3530delinsCAA (p.Ser1176=) c.3429_3431delinsCAA (p.Ser1143=) c.2610_2612delinsCAA (p.Ser870=) n.4161_4163delinsCAA | |
| 13 | g.51937354T>A | CA388021137 | ATP7B | c.*1593A>T (n.*1593A>T) c.*2687A>T (n.*2687A>T) c.3322A>T (p.Lys1108Ter) c.3943A>T (p.Lys1315Ter) c.3610A>T (p.Lys1204Ter) c.3691A>T (p.Lys1231Ter) n.1266A>T c.3709A>T (p.Lys1237Ter) n.4082A>T n.809A>T c.2878A>T (p.Lys960Ter) c.2653A>T (p.Lys885Ter) c.3748A>T (p.Lys1250Ter) c.1721A>T c.*1044A>T (n.*1044A>T) n.4687A>T n.3288A>T c.3799A>T (p.Lys1267Ter) c.3847A>T (p.Lys1283Ter) c.3907A>T (p.Lys1303Ter) c.3457A>T (p.Lys1153Ter) c.1759A>T (p.Lys587Ter) c.1576A>T (p.Lys526Ter) c.3808A>T (p.Lys1270Ter) c.3760A>T (p.Lys1254Ter) c.3529A>T (p.Lys1177Ter) c.3430A>T (p.Lys1144Ter) c.2611A>T (p.Lys871Ter) n.4162A>T | |
| 13 | g.51937354T>C | CA388021139 | ATP7B | c.*1593A>G (n.*1593A>G) c.*2687A>G (n.*2687A>G) c.3322A>G (p.Lys1108Glu) c.3943A>G (p.Lys1315Glu) c.3610A>G (p.Lys1204Glu) c.3691A>G (p.Lys1231Glu) n.1266A>G c.3709A>G (p.Lys1237Glu) n.4082A>G n.809A>G c.2878A>G (p.Lys960Glu) c.2653A>G (p.Lys885Glu) c.3748A>G (p.Lys1250Glu) c.1721A>G c.*1044A>G (n.*1044A>G) n.4687A>G n.3288A>G c.3799A>G (p.Lys1267Glu) c.3847A>G (p.Lys1283Glu) c.3907A>G (p.Lys1303Glu) c.3457A>G (p.Lys1153Glu) c.1759A>G (p.Lys587Glu) c.1576A>G (p.Lys526Glu) c.3808A>G (p.Lys1270Glu) c.3760A>G (p.Lys1254Glu) c.3529A>G (p.Lys1177Glu) c.3430A>G (p.Lys1144Glu) c.2611A>G (p.Lys871Glu) n.4162A>G | |
| 13 | g.51937354T>G | CA388021135 | ATP7B | c.*1593A>C (n.*1593A>C) c.*2687A>C (n.*2687A>C) c.3322A>C (p.Lys1108Gln) c.3943A>C (p.Lys1315Gln) c.3610A>C (p.Lys1204Gln) c.3691A>C (p.Lys1231Gln) n.1266A>C c.3709A>C (p.Lys1237Gln) n.4082A>C n.809A>C c.2878A>C (p.Lys960Gln) c.2653A>C (p.Lys885Gln) c.3748A>C (p.Lys1250Gln) c.1721A>C c.*1044A>C (n.*1044A>C) n.4687A>C n.3288A>C c.3799A>C (p.Lys1267Gln) c.3847A>C (p.Lys1283Gln) c.3907A>C (p.Lys1303Gln) c.3457A>C (p.Lys1153Gln) c.1759A>C (p.Lys587Gln) c.1576A>C (p.Lys526Gln) c.3808A>C (p.Lys1270Gln) c.3760A>C (p.Lys1254Gln) c.3529A>C (p.Lys1177Gln) c.3430A>C (p.Lys1144Gln) c.2611A>C (p.Lys871Gln) n.4162A>C | |
| 13 | g.51937354_51937355del | CA16041662 | ATP7B | c.*1592_*1593del (n.*1592_*1593del) c.*2686_*2687del (n.*2686_*2687del) c.3321_3322del (p.Lys1108GlufsTer17) c.3942_3943del (p.Lys1315GlufsTer17) c.3609_3610del (p.Lys1204GlufsTer17) c.3690_3691del (p.Lys1231GlufsTer17) n.1265_1266del c.3708_3709del (p.Lys1237GlufsTer17) n.4081_4082del n.808_809del c.2877_2878del (p.Lys960GlufsTer17) c.2652_2653del (p.Lys885GlufsTer17) c.3747_3748del (p.Lys1250GlufsTer17) c.1720_1721del c.*1043_*1044del (n.*1043_*1044del) n.4686_4687del n.3287_3288del c.3798_3799del (p.Lys1267GlufsTer17) c.3846_3847del (p.Lys1283GlufsTer17) c.3906_3907del (p.Lys1303GlufsTer17) c.3456_3457del (p.Lys1153GlufsTer17) c.1758_1759del (p.Lys587GlufsTer17) c.1575_1576del (p.Lys526GlufsTer17) c.3807_3808del (p.Lys1270GlufsTer17) c.3759_3760del (p.Lys1254GlufsTer17) c.3528_3529del (p.Lys1177GlufsTer17) c.3429_3430del (p.Lys1144GlufsTer17) c.2610_2611del (p.Lys871GlufsTer17) n.4161_4162del | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937355G>A | CA484024240 | ATP7B | c.*1592C>T (n.*1592C>T) c.*2686C>T (n.*2686C>T) c.3321C>T (p.Ser1107=) c.3942C>T (p.Ser1314=) c.3609C>T (p.Ser1203=) c.3690C>T (p.Ser1230=) n.1265C>T c.3708C>T (p.Ser1236=) n.4081C>T n.808C>T c.2877C>T (p.Ser959=) c.2652C>T (p.Ser884=) c.3747C>T (p.Ser1249=) c.1720C>T c.*1043C>T (n.*1043C>T) n.4686C>T n.3287C>T c.3798C>T (p.Ser1266=) c.3846C>T (p.Ser1282=) c.3906C>T (p.Ser1302=) c.3456C>T (p.Ser1152=) c.1758C>T (p.Ser586=) c.1575C>T (p.Ser525=) c.3807C>T (p.Ser1269=) c.3759C>T (p.Ser1253=) c.3528C>T (p.Ser1176=) c.3429C>T (p.Ser1143=) c.2610C>T (p.Ser870=) n.4161C>T | |
| 13 | g.51937355G>C | CA484024241 | ATP7B | c.*1592C>G (n.*1592C>G) c.*2686C>G (n.*2686C>G) c.3321C>G (p.Ser1107=) c.3942C>G (p.Ser1314=) c.3609C>G (p.Ser1203=) c.3690C>G (p.Ser1230=) n.1265C>G c.3708C>G (p.Ser1236=) n.4081C>G n.808C>G c.2877C>G (p.Ser959=) c.2652C>G (p.Ser884=) c.3747C>G (p.Ser1249=) c.1720C>G c.*1043C>G (n.*1043C>G) n.4686C>G n.3287C>G c.3798C>G (p.Ser1266=) c.3846C>G (p.Ser1282=) c.3906C>G (p.Ser1302=) c.3456C>G (p.Ser1152=) c.1758C>G (p.Ser586=) c.1575C>G (p.Ser525=) c.3807C>G (p.Ser1269=) c.3759C>G (p.Ser1253=) c.3528C>G (p.Ser1176=) c.3429C>G (p.Ser1143=) c.2610C>G (p.Ser870=) n.4161C>G | |
| 13 | g.51937355G>T | CA484024242 | ATP7B | c.*1592C>A (n.*1592C>A) c.*2686C>A (n.*2686C>A) c.3321C>A (p.Ser1107=) c.3942C>A (p.Ser1314=) c.3609C>A (p.Ser1203=) c.3690C>A (p.Ser1230=) n.1265C>A c.3708C>A (p.Ser1236=) n.4081C>A n.808C>A c.2877C>A (p.Ser959=) c.2652C>A (p.Ser884=) c.3747C>A (p.Ser1249=) c.1720C>A c.*1043C>A (n.*1043C>A) n.4686C>A n.3287C>A c.3798C>A (p.Ser1266=) c.3846C>A (p.Ser1282=) c.3906C>A (p.Ser1302=) c.3456C>A (p.Ser1152=) c.1758C>A (p.Ser586=) c.1575C>A (p.Ser525=) c.3807C>A (p.Ser1269=) c.3759C>A (p.Ser1253=) c.3528C>A (p.Ser1176=) c.3429C>A (p.Ser1143=) c.2610C>A (p.Ser870=) n.4161C>A | |
| 13 | g.51937356G>A | CA388021142 | ATP7B | c.*1591C>T (n.*1591C>T) c.*2685C>T (n.*2685C>T) c.3320C>T (p.Ser1107Phe) c.3941C>T (p.Ser1314Phe) c.3608C>T (p.Ser1203Phe) c.3689C>T (p.Ser1230Phe) n.1264C>T c.3707C>T (p.Ser1236Phe) n.4080C>T n.807C>T c.2876C>T (p.Ser959Phe) c.2651C>T (p.Ser884Phe) c.3746C>T (p.Ser1249Phe) c.1719C>T c.*1042C>T (n.*1042C>T) n.4685C>T n.3286C>T c.3797C>T (p.Ser1266Phe) c.3845C>T (p.Ser1282Phe) c.3905C>T (p.Ser1302Phe) c.3455C>T (p.Ser1152Phe) c.1757C>T (p.Ser586Phe) c.1574C>T (p.Ser525Phe) c.3806C>T (p.Ser1269Phe) c.3758C>T (p.Ser1253Phe) c.3527C>T (p.Ser1176Phe) c.3428C>T (p.Ser1143Phe) c.2609C>T (p.Ser870Phe) n.4160C>T | dbSNP |
| 13 | g.51937356G>C | CA388021140 | ATP7B | c.*1591C>G (n.*1591C>G) c.*2685C>G (n.*2685C>G) c.3320C>G (p.Ser1107Cys) c.3941C>G (p.Ser1314Cys) c.3608C>G (p.Ser1203Cys) c.3689C>G (p.Ser1230Cys) n.1264C>G c.3707C>G (p.Ser1236Cys) n.4080C>G n.807C>G c.2876C>G (p.Ser959Cys) c.2651C>G (p.Ser884Cys) c.3746C>G (p.Ser1249Cys) c.1719C>G c.*1042C>G (n.*1042C>G) n.4685C>G n.3286C>G c.3797C>G (p.Ser1266Cys) c.3845C>G (p.Ser1282Cys) c.3905C>G (p.Ser1302Cys) c.3455C>G (p.Ser1152Cys) c.1757C>G (p.Ser586Cys) c.1574C>G (p.Ser525Cys) c.3806C>G (p.Ser1269Cys) c.3758C>G (p.Ser1253Cys) c.3527C>G (p.Ser1176Cys) c.3428C>G (p.Ser1143Cys) c.2609C>G (p.Ser870Cys) n.4160C>G | |
| 13 | g.51937356G= | CA2091553495 | ATP7B | c.*1591C= (n.*1591C=) c.*2685C= (n.*2685C=) c.3320C= (p.Ser1107=) c.3941C= (p.Ser1314=) c.3608C= (p.Ser1203=) c.3689C= (p.Ser1230=) n.1264C= c.3707C= (p.Ser1236=) n.4080C= n.807C= c.2876C= (p.Ser959=) c.2651C= (p.Ser884=) c.3746C= (p.Ser1249=) c.1719C= c.*1042C= (n.*1042C=) n.4685C= n.3286C= c.3797C= (p.Ser1266=) c.3845C= (p.Ser1282=) c.3905C= (p.Ser1302=) c.3455C= (p.Ser1152=) c.1757C= (p.Ser586=) c.1574C= (p.Ser525=) c.3806C= (p.Ser1269=) c.3758C= (p.Ser1253=) c.3527C= (p.Ser1176=) c.3428C= (p.Ser1143=) c.2609C= (p.Ser870=) n.4160C= | |
| 13 | g.51937356G>T | CA388021143 | ATP7B | c.*1591C>A (n.*1591C>A) c.*2685C>A (n.*2685C>A) c.3320C>A (p.Ser1107Tyr) c.3941C>A (p.Ser1314Tyr) c.3608C>A (p.Ser1203Tyr) c.3689C>A (p.Ser1230Tyr) n.1264C>A c.3707C>A (p.Ser1236Tyr) n.4080C>A n.807C>A c.2876C>A (p.Ser959Tyr) c.2651C>A (p.Ser884Tyr) c.3746C>A (p.Ser1249Tyr) c.1719C>A c.*1042C>A (n.*1042C>A) n.4685C>A n.3286C>A c.3797C>A (p.Ser1266Tyr) c.3845C>A (p.Ser1282Tyr) c.3905C>A (p.Ser1302Tyr) c.3455C>A (p.Ser1152Tyr) c.1757C>A (p.Ser586Tyr) c.1574C>A (p.Ser525Tyr) c.3806C>A (p.Ser1269Tyr) c.3758C>A (p.Ser1253Tyr) c.3527C>A (p.Ser1176Tyr) c.3428C>A (p.Ser1143Tyr) c.2609C>A (p.Ser870Tyr) n.4160C>A | |
| 13 | g.51937357A>C | CA388021145 | ATP7B | c.*1590T>G (n.*1590T>G) c.*2684T>G (n.*2684T>G) c.3319T>G (p.Ser1107Ala) c.3940T>G (p.Ser1314Ala) c.3607T>G (p.Ser1203Ala) c.3688T>G (p.Ser1230Ala) n.1263T>G c.3706T>G (p.Ser1236Ala) n.4079T>G n.806T>G c.2875T>G (p.Ser959Ala) c.2650T>G (p.Ser884Ala) c.3745T>G (p.Ser1249Ala) c.1718T>G c.*1041T>G (n.*1041T>G) n.4684T>G n.3285T>G c.3796T>G (p.Ser1266Ala) c.3844T>G (p.Ser1282Ala) c.3904T>G (p.Ser1302Ala) c.3454T>G (p.Ser1152Ala) c.1756T>G (p.Ser586Ala) c.1573T>G (p.Ser525Ala) c.3805T>G (p.Ser1269Ala) c.3757T>G (p.Ser1253Ala) c.3526T>G (p.Ser1176Ala) c.3427T>G (p.Ser1143Ala) c.2608T>G (p.Ser870Ala) n.4159T>G | |
| 13 | g.51937357A>G | CA388021147 | ATP7B | c.*1590T>C (n.*1590T>C) c.*2684T>C (n.*2684T>C) c.3319T>C (p.Ser1107Pro) c.3940T>C (p.Ser1314Pro) c.3607T>C (p.Ser1203Pro) c.3688T>C (p.Ser1230Pro) n.1263T>C c.3706T>C (p.Ser1236Pro) n.4079T>C n.806T>C c.2875T>C (p.Ser959Pro) c.2650T>C (p.Ser884Pro) c.3745T>C (p.Ser1249Pro) c.1718T>C c.*1041T>C (n.*1041T>C) n.4684T>C n.3285T>C c.3796T>C (p.Ser1266Pro) c.3844T>C (p.Ser1282Pro) c.3904T>C (p.Ser1302Pro) c.3454T>C (p.Ser1152Pro) c.1756T>C (p.Ser586Pro) c.1573T>C (p.Ser525Pro) c.3805T>C (p.Ser1269Pro) c.3757T>C (p.Ser1253Pro) c.3526T>C (p.Ser1176Pro) c.3427T>C (p.Ser1143Pro) c.2608T>C (p.Ser870Pro) n.4159T>C | |
| 13 | g.51937357A>T | CA388021149 | ATP7B | c.*1590T>A (n.*1590T>A) c.*2684T>A (n.*2684T>A) c.3319T>A (p.Ser1107Thr) c.3940T>A (p.Ser1314Thr) c.3607T>A (p.Ser1203Thr) c.3688T>A (p.Ser1230Thr) n.1263T>A c.3706T>A (p.Ser1236Thr) n.4079T>A n.806T>A c.2875T>A (p.Ser959Thr) c.2650T>A (p.Ser884Thr) c.3745T>A (p.Ser1249Thr) c.1718T>A c.*1041T>A (n.*1041T>A) n.4684T>A n.3285T>A c.3796T>A (p.Ser1266Thr) c.3844T>A (p.Ser1282Thr) c.3904T>A (p.Ser1302Thr) c.3454T>A (p.Ser1152Thr) c.1756T>A (p.Ser586Thr) c.1573T>A (p.Ser525Thr) c.3805T>A (p.Ser1269Thr) c.3757T>A (p.Ser1253Thr) c.3526T>A (p.Ser1176Thr) c.3427T>A (p.Ser1143Thr) c.2608T>A (p.Ser870Thr) n.4159T>A | |
| 13 | g.51937358A= | CA2091553499 | ATP7B | c.*1589T= (n.*1589T=) c.*2683T= (n.*2683T=) c.3318T= (p.Leu1106=) c.3939T= (p.Leu1313=) c.3606T= (p.Leu1202=) c.3687T= (p.Leu1229=) n.1262T= c.3705T= (p.Leu1235=) n.4078T= n.805T= c.2874T= (p.Leu958=) c.2649T= (p.Leu883=) c.3744T= (p.Leu1248=) c.1717T= c.*1040T= (n.*1040T=) n.4683T= n.3284T= c.3795T= (p.Leu1265=) c.3843T= (p.Leu1281=) c.3903T= (p.Leu1301=) c.3453T= (p.Leu1151=) c.1755T= (p.Leu585=) c.1572T= (p.Leu524=) c.3804T= (p.Leu1268=) c.3756T= (p.Leu1252=) c.3525T= (p.Leu1175=) c.3426T= (p.Leu1142=) c.2607T= (p.Leu869=) n.4158T= | |
| 13 | g.51937358A>C | CA484024243 | ATP7B | c.*1589T>G (n.*1589T>G) c.*2683T>G (n.*2683T>G) c.3318T>G (p.Leu1106=) c.3939T>G (p.Leu1313=) c.3606T>G (p.Leu1202=) c.3687T>G (p.Leu1229=) n.1262T>G c.3705T>G (p.Leu1235=) n.4078T>G n.805T>G c.2874T>G (p.Leu958=) c.2649T>G (p.Leu883=) c.3744T>G (p.Leu1248=) c.1717T>G c.*1040T>G (n.*1040T>G) n.4683T>G n.3284T>G c.3795T>G (p.Leu1265=) c.3843T>G (p.Leu1281=) c.3903T>G (p.Leu1301=) c.3453T>G (p.Leu1151=) c.1755T>G (p.Leu585=) c.1572T>G (p.Leu524=) c.3804T>G (p.Leu1268=) c.3756T>G (p.Leu1252=) c.3525T>G (p.Leu1175=) c.3426T>G (p.Leu1142=) c.2607T>G (p.Leu869=) n.4158T>G | gnomAD v4 |
| 13 | g.51937358A>G | CA250073397 | ATP7B | c.*1589T>C (n.*1589T>C) c.*2683T>C (n.*2683T>C) c.3318T>C (p.Leu1106=) c.3939T>C (p.Leu1313=) c.3606T>C (p.Leu1202=) c.3687T>C (p.Leu1229=) n.1262T>C c.3705T>C (p.Leu1235=) n.4078T>C n.805T>C c.2874T>C (p.Leu958=) c.2649T>C (p.Leu883=) c.3744T>C (p.Leu1248=) c.1717T>C c.*1040T>C (n.*1040T>C) n.4683T>C n.3284T>C c.3795T>C (p.Leu1265=) c.3843T>C (p.Leu1281=) c.3903T>C (p.Leu1301=) c.3453T>C (p.Leu1151=) c.1755T>C (p.Leu585=) c.1572T>C (p.Leu524=) c.3804T>C (p.Leu1268=) c.3756T>C (p.Leu1252=) c.3525T>C (p.Leu1175=) c.3426T>C (p.Leu1142=) c.2607T>C (p.Leu869=) n.4158T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51937358A>T | CA484024244 | ATP7B | c.*1589T>A (n.*1589T>A) c.*2683T>A (n.*2683T>A) c.3318T>A (p.Leu1106=) c.3939T>A (p.Leu1313=) c.3606T>A (p.Leu1202=) c.3687T>A (p.Leu1229=) n.1262T>A c.3705T>A (p.Leu1235=) n.4078T>A n.805T>A c.2874T>A (p.Leu958=) c.2649T>A (p.Leu883=) c.3744T>A (p.Leu1248=) c.1717T>A c.*1040T>A (n.*1040T>A) n.4683T>A n.3284T>A c.3795T>A (p.Leu1265=) c.3843T>A (p.Leu1281=) c.3903T>A (p.Leu1301=) c.3453T>A (p.Leu1151=) c.1755T>A (p.Leu585=) c.1572T>A (p.Leu524=) c.3804T>A (p.Leu1268=) c.3756T>A (p.Leu1252=) c.3525T>A (p.Leu1175=) c.3426T>A (p.Leu1142=) c.2607T>A (p.Leu869=) n.4158T>A | |
| 13 | g.51937359A>C | CA388021150 | ATP7B | c.*1588T>G (n.*1588T>G) c.*2682T>G (n.*2682T>G) c.3317T>G (p.Leu1106Arg) c.3938T>G (p.Leu1313Arg) c.3605T>G (p.Leu1202Arg) c.3686T>G (p.Leu1229Arg) n.1261T>G c.3704T>G (p.Leu1235Arg) n.4077T>G n.804T>G c.2873T>G (p.Leu958Arg) c.2648T>G (p.Leu883Arg) c.3743T>G (p.Leu1248Arg) c.1716T>G c.*1039T>G (n.*1039T>G) n.4682T>G n.3283T>G c.3794T>G (p.Leu1265Arg) c.3842T>G (p.Leu1281Arg) c.3902T>G (p.Leu1301Arg) c.3452T>G (p.Leu1151Arg) c.1754T>G (p.Leu585Arg) c.1571T>G (p.Leu524Arg) c.3803T>G (p.Leu1268Arg) c.3755T>G (p.Leu1252Arg) c.3524T>G (p.Leu1175Arg) c.3425T>G (p.Leu1142Arg) c.2606T>G (p.Leu869Arg) n.4157T>G | gnomAD v4 |
| 13 | g.51937359A>G | CA388021152 | ATP7B | c.*1588T>C (n.*1588T>C) c.*2682T>C (n.*2682T>C) c.3317T>C (p.Leu1106Pro) c.3938T>C (p.Leu1313Pro) c.3605T>C (p.Leu1202Pro) c.3686T>C (p.Leu1229Pro) n.1261T>C c.3704T>C (p.Leu1235Pro) n.4077T>C n.804T>C c.2873T>C (p.Leu958Pro) c.2648T>C (p.Leu883Pro) c.3743T>C (p.Leu1248Pro) c.1716T>C c.*1039T>C (n.*1039T>C) n.4682T>C n.3283T>C c.3794T>C (p.Leu1265Pro) c.3842T>C (p.Leu1281Pro) c.3902T>C (p.Leu1301Pro) c.3452T>C (p.Leu1151Pro) c.1754T>C (p.Leu585Pro) c.1571T>C (p.Leu524Pro) c.3803T>C (p.Leu1268Pro) c.3755T>C (p.Leu1252Pro) c.3524T>C (p.Leu1175Pro) c.3425T>C (p.Leu1142Pro) c.2606T>C (p.Leu869Pro) n.4157T>C | ClinVar gnomAD v4 |
| 13 | g.51937359A>T | CA388021154 | ATP7B | c.*1588T>A (n.*1588T>A) c.*2682T>A (n.*2682T>A) c.3317T>A (p.Leu1106His) c.3938T>A (p.Leu1313His) c.3605T>A (p.Leu1202His) c.3686T>A (p.Leu1229His) n.1261T>A c.3704T>A (p.Leu1235His) n.4077T>A n.804T>A c.2873T>A (p.Leu958His) c.2648T>A (p.Leu883His) c.3743T>A (p.Leu1248His) c.1716T>A c.*1039T>A (n.*1039T>A) n.4682T>A n.3283T>A c.3794T>A (p.Leu1265His) c.3842T>A (p.Leu1281His) c.3902T>A (p.Leu1301His) c.3452T>A (p.Leu1151His) c.1754T>A (p.Leu585His) c.1571T>A (p.Leu524His) c.3803T>A (p.Leu1268His) c.3755T>A (p.Leu1252His) c.3524T>A (p.Leu1175His) c.3425T>A (p.Leu1142His) c.2606T>A (p.Leu869His) n.4157T>A | |
| 13 | g.51937360G>A | CA388021156 | ATP7B | c.*1587C>T (n.*1587C>T) c.*2681C>T (n.*2681C>T) c.3316C>T (p.Leu1106Phe) c.3937C>T (p.Leu1313Phe) c.3604C>T (p.Leu1202Phe) c.3685C>T (p.Leu1229Phe) n.1260C>T c.3703C>T (p.Leu1235Phe) n.4076C>T n.803C>T c.2872C>T (p.Leu958Phe) c.2647C>T (p.Leu883Phe) c.3742C>T (p.Leu1248Phe) c.1715C>T c.*1038C>T (n.*1038C>T) n.4681C>T n.3282C>T c.3793C>T (p.Leu1265Phe) c.3841C>T (p.Leu1281Phe) c.3901C>T (p.Leu1301Phe) c.3451C>T (p.Leu1151Phe) c.1753C>T (p.Leu585Phe) c.1570C>T (p.Leu524Phe) c.3802C>T (p.Leu1268Phe) c.3754C>T (p.Leu1252Phe) c.3523C>T (p.Leu1175Phe) c.3424C>T (p.Leu1142Phe) c.2605C>T (p.Leu869Phe) n.4156C>T | |
| 13 | g.51937360G>C | CA388021157 | ATP7B | c.*1587C>G (n.*1587C>G) c.*2681C>G (n.*2681C>G) c.3316C>G (p.Leu1106Val) c.3937C>G (p.Leu1313Val) c.3604C>G (p.Leu1202Val) c.3685C>G (p.Leu1229Val) n.1260C>G c.3703C>G (p.Leu1235Val) n.4076C>G n.803C>G c.2872C>G (p.Leu958Val) c.2647C>G (p.Leu883Val) c.3742C>G (p.Leu1248Val) c.1715C>G c.*1038C>G (n.*1038C>G) n.4681C>G n.3282C>G c.3793C>G (p.Leu1265Val) c.3841C>G (p.Leu1281Val) c.3901C>G (p.Leu1301Val) c.3451C>G (p.Leu1151Val) c.1753C>G (p.Leu585Val) c.1570C>G (p.Leu524Val) c.3802C>G (p.Leu1268Val) c.3754C>G (p.Leu1252Val) c.3523C>G (p.Leu1175Val) c.3424C>G (p.Leu1142Val) c.2605C>G (p.Leu869Val) n.4156C>G | |
| 13 | g.51937360G>T | CA388021158 | ATP7B | c.*1587C>A (n.*1587C>A) c.*2681C>A (n.*2681C>A) c.3316C>A (p.Leu1106Ile) c.3937C>A (p.Leu1313Ile) c.3604C>A (p.Leu1202Ile) c.3685C>A (p.Leu1229Ile) n.1260C>A c.3703C>A (p.Leu1235Ile) n.4076C>A n.803C>A c.2872C>A (p.Leu958Ile) c.2647C>A (p.Leu883Ile) c.3742C>A (p.Leu1248Ile) c.1715C>A c.*1038C>A (n.*1038C>A) n.4681C>A n.3282C>A c.3793C>A (p.Leu1265Ile) c.3841C>A (p.Leu1281Ile) c.3901C>A (p.Leu1301Ile) c.3451C>A (p.Leu1151Ile) c.1753C>A (p.Leu585Ile) c.1570C>A (p.Leu524Ile) c.3802C>A (p.Leu1268Ile) c.3754C>A (p.Leu1252Ile) c.3523C>A (p.Leu1175Ile) c.3424C>A (p.Leu1142Ile) c.2605C>A (p.Leu869Ile) n.4156C>A | |
| 13 | g.51937361G>A | CA484024245 | ATP7B | c.*1586C>T (n.*1586C>T) c.*2680C>T (n.*2680C>T) c.3315C>T (p.His1105=) c.3936C>T (p.His1312=) c.3603C>T (p.His1201=) c.3684C>T (p.His1228=) n.1259C>T c.3702C>T (p.His1234=) n.4075C>T n.802C>T c.2871C>T (p.His957=) c.2646C>T (p.His882=) c.3741C>T (p.His1247=) c.1714C>T c.*1037C>T (n.*1037C>T) n.4680C>T n.3281C>T c.3792C>T (p.His1264=) c.3840C>T (p.His1280=) c.3900C>T (p.His1300=) c.3450C>T (p.His1150=) c.1752C>T (p.His584=) c.1569C>T (p.His523=) c.3801C>T (p.His1267=) c.3753C>T (p.His1251=) c.3522C>T (p.His1174=) c.3423C>T (p.His1141=) c.2604C>T (p.His868=) n.4155C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937361G>C | CA388021160 | ATP7B | c.*1586C>G (n.*1586C>G) c.*2680C>G (n.*2680C>G) c.3315C>G (p.His1105Gln) c.3936C>G (p.His1312Gln) c.3603C>G (p.His1201Gln) c.3684C>G (p.His1228Gln) n.1259C>G c.3702C>G (p.His1234Gln) n.4075C>G n.802C>G c.2871C>G (p.His957Gln) c.2646C>G (p.His882Gln) c.3741C>G (p.His1247Gln) c.1714C>G c.*1037C>G (n.*1037C>G) n.4680C>G n.3281C>G c.3792C>G (p.His1264Gln) c.3840C>G (p.His1280Gln) c.3900C>G (p.His1300Gln) c.3450C>G (p.His1150Gln) c.1752C>G (p.His584Gln) c.1569C>G (p.His523Gln) c.3801C>G (p.His1267Gln) c.3753C>G (p.His1251Gln) c.3522C>G (p.His1174Gln) c.3423C>G (p.His1141Gln) c.2604C>G (p.His868Gln) n.4155C>G | gnomAD v4 |
| 13 | g.51937361G= | CA2091553504 | ATP7B | c.*1586C= (n.*1586C=) c.*2680C= (n.*2680C=) c.3315C= (p.His1105=) c.3936C= (p.His1312=) c.3603C= (p.His1201=) c.3684C= (p.His1228=) n.1259C= c.3702C= (p.His1234=) n.4075C= n.802C= c.2871C= (p.His957=) c.2646C= (p.His882=) c.3741C= (p.His1247=) c.1714C= c.*1037C= (n.*1037C=) n.4680C= n.3281C= c.3792C= (p.His1264=) c.3840C= (p.His1280=) c.3900C= (p.His1300=) c.3450C= (p.His1150=) c.1752C= (p.His584=) c.1569C= (p.His523=) c.3801C= (p.His1267=) c.3753C= (p.His1251=) c.3522C= (p.His1174=) c.3423C= (p.His1141=) c.2604C= (p.His868=) n.4155C= |