Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51937567_51937571dup | CA956027112 | ATP7B | c.*1458_*1462dup (n.*1458_*1462dup) c.*2552_*2556dup (n.*2552_*2556dup) c.3187_3191dup (p.Asp1064GlufsTer?) c.3808_3812dup (p.Asp1271GlufsTer?) c.3475_3479dup (p.Asp1160GlufsTer?) c.3556_3560dup (p.Asp1187GlufsTer?) n.1049_1053dup c.3574_3578dup (p.Asp1193GlufsTer?) n.3947_3951dup n.674_678dup c.2743_2747dup (p.Asp916GlufsTer?) c.2518_2522dup (p.Asp841GlufsTer?) c.3613_3617dup (p.Asp1206GlufsTer?) c.1586_1590dup c.*909_*913dup (n.*909_*913dup) n.4552_4556dup n.3153_3157dup c.3664_3668dup (p.Asp1223GlufsTer?) c.3712_3716dup (p.Asp1239GlufsTer?) c.3772_3776dup (p.Asp1259GlufsTer?) c.3322_3326dup (p.Asp1109GlufsTer?) c.1624_1628dup (p.Asp543GlufsTer?) c.1441_1445dup (p.Asp482GlufsTer?) c.3673_3677dup (p.Asp1226GlufsTer?) c.3625_3629dup (p.Asp1210GlufsTer?) c.3394_3398dup (p.Asp1133GlufsTer?) c.3295_3299dup (p.Asp1100GlufsTer?) c.2476_2480dup (p.Asp827GlufsTer?) n.4027_4031dup | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937569_51937570del | CA912974792 | ATP7B | c.*1459_*1460del (n.*1459_*1460del) c.*2553_*2554del (n.*2553_*2554del) c.3188_3189del (p.Asn1063ArgfsTer?) c.3809_3810del (p.Asn1270ArgfsTer?) c.3476_3477del (p.Asn1159ArgfsTer?) c.3557_3558del (p.Asn1186ArgfsTer?) n.1050_1051del c.3575_3576del (p.Asn1192ArgfsTer?) n.3948_3949del n.675_676del c.2744_2745del (p.Asn915ArgfsTer?) c.2519_2520del (p.Asn840ArgfsTer?) c.3614_3615del (p.Asn1205ArgfsTer?) c.1587_1588del c.*910_*911del (n.*910_*911del) n.4553_4554del n.3154_3155del c.3665_3666del (p.Asn1222ArgfsTer?) c.3713_3714del (p.Asn1238ArgfsTer?) c.3773_3774del (p.Asn1258ArgfsTer?) c.3323_3324del (p.Asn1108ArgfsTer?) c.1625_1626del (p.Asn542ArgfsTer?) c.1442_1443del (p.Asn481ArgfsTer?) c.3674_3675del (p.Asn1225ArgfsTer?) c.3626_3627del (p.Asn1209ArgfsTer?) c.3395_3396del (p.Asn1132ArgfsTer?) c.3296_3297del (p.Asn1099ArgfsTer?) c.2477_2478del (p.Asn826ArgfsTer?) n.4028_4029del | |
13 | g.51937569_51937570delinsAT | CA2091554005 | ATP7B | c.*1459_*1460delinsAT (n.*1459_*1460delinsAT) c.*2553_*2554delinsAT (n.*2553_*2554delinsAT) c.3188_3189delinsAT (p.Asn1063=) c.3809_3810delinsAT (p.Asn1270=) c.3476_3477delinsAT (p.Asn1159=) c.3557_3558delinsAT (p.Asn1186=) n.1050_1051delinsAT c.3575_3576delinsAT (p.Asn1192=) n.3948_3949delinsAT n.675_676delinsAT c.2744_2745delinsAT (p.Asn915=) c.2519_2520delinsAT (p.Asn840=) c.3614_3615delinsAT (p.Asn1205=) c.1587_1588delinsAT c.*910_*911delinsAT (n.*910_*911delinsAT) n.4553_4554delinsAT n.3154_3155delinsAT c.3665_3666delinsAT (p.Asn1222=) c.3713_3714delinsAT (p.Asn1238=) c.3773_3774delinsAT (p.Asn1258=) c.3323_3324delinsAT (p.Asn1108=) c.1625_1626delinsAT (p.Asn542=) c.1442_1443delinsAT (p.Asn481=) c.3674_3675delinsAT (p.Asn1225=) c.3626_3627delinsAT (p.Asn1209=) c.3395_3396delinsAT (p.Asn1132=) c.3296_3297delinsAT (p.Asn1099=) c.2477_2478delinsAT (p.Asn826=) n.4028_4029delinsAT | |
13 | g.51937570T>A | CA6988565 | ATP7B | c.*1459A>T (n.*1459A>T) c.*2553A>T (n.*2553A>T) c.3188A>T (p.Asn1063Ile) c.3809A>T (p.Asn1270Ile) c.3476A>T (p.Asn1159Ile) c.3557A>T (p.Asn1186Ile) n.1050A>T c.3575A>T (p.Asn1192Ile) n.3948A>T n.675A>T c.2744A>T (p.Asn915Ile) c.2519A>T (p.Asn840Ile) c.3614A>T (p.Asn1205Ile) c.1587A>T c.*910A>T (n.*910A>T) n.4553A>T n.3154A>T c.3665A>T (p.Asn1222Ile) c.3713A>T (p.Asn1238Ile) c.3773A>T (p.Asn1258Ile) c.3323A>T (p.Asn1108Ile) c.1625A>T (p.Asn542Ile) c.1442A>T (p.Asn481Ile) c.3674A>T (p.Asn1225Ile) c.3626A>T (p.Asn1209Ile) c.3395A>T (p.Asn1132Ile) c.3296A>T (p.Asn1099Ile) c.2477A>T (p.Asn826Ile) n.4028A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937570T>C | CA252896 | ATP7B | c.*1459A>G (n.*1459A>G) c.*2553A>G (n.*2553A>G) c.3188A>G (p.Asn1063Ser) c.3809A>G (p.Asn1270Ser) c.3476A>G (p.Asn1159Ser) c.3557A>G (p.Asn1186Ser) n.1050A>G c.3575A>G (p.Asn1192Ser) n.3948A>G n.675A>G c.2744A>G (p.Asn915Ser) c.2519A>G (p.Asn840Ser) c.3614A>G (p.Asn1205Ser) c.1587A>G c.*910A>G (n.*910A>G) n.4553A>G n.3154A>G c.3665A>G (p.Asn1222Ser) c.3713A>G (p.Asn1238Ser) c.3773A>G (p.Asn1258Ser) c.3323A>G (p.Asn1108Ser) c.1625A>G (p.Asn542Ser) c.1442A>G (p.Asn481Ser) c.3674A>G (p.Asn1225Ser) c.3626A>G (p.Asn1209Ser) c.3395A>G (p.Asn1132Ser) c.3296A>G (p.Asn1099Ser) c.2477A>G (p.Asn826Ser) n.4028A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937570T>G | CA388021960 | ATP7B | c.*1459A>C (n.*1459A>C) c.*2553A>C (n.*2553A>C) c.3188A>C (p.Asn1063Thr) c.3809A>C (p.Asn1270Thr) c.3476A>C (p.Asn1159Thr) c.3557A>C (p.Asn1186Thr) n.1050A>C c.3575A>C (p.Asn1192Thr) n.3948A>C n.675A>C c.2744A>C (p.Asn915Thr) c.2519A>C (p.Asn840Thr) c.3614A>C (p.Asn1205Thr) c.1587A>C c.*910A>C (n.*910A>C) n.4553A>C n.3154A>C c.3665A>C (p.Asn1222Thr) c.3713A>C (p.Asn1238Thr) c.3773A>C (p.Asn1258Thr) c.3323A>C (p.Asn1108Thr) c.1625A>C (p.Asn542Thr) c.1442A>C (p.Asn481Thr) c.3674A>C (p.Asn1225Thr) c.3626A>C (p.Asn1209Thr) c.3395A>C (p.Asn1132Thr) c.3296A>C (p.Asn1099Thr) c.2477A>C (p.Asn826Thr) n.4028A>C | |
13 | g.51937570T= | CA2091554010 | ATP7B | c.*1459A= (n.*1459A=) c.*2553A= (n.*2553A=) c.3188A= (p.Asn1063=) c.3809A= (p.Asn1270=) c.3476A= (p.Asn1159=) c.3557A= (p.Asn1186=) n.1050A= c.3575A= (p.Asn1192=) n.3948A= n.675A= c.2744A= (p.Asn915=) c.2519A= (p.Asn840=) c.3614A= (p.Asn1205=) c.1587A= c.*910A= (n.*910A=) n.4553A= n.3154A= c.3665A= (p.Asn1222=) c.3713A= (p.Asn1238=) c.3773A= (p.Asn1258=) c.3323A= (p.Asn1108=) c.1625A= (p.Asn542=) c.1442A= (p.Asn481=) c.3674A= (p.Asn1225=) c.3626A= (p.Asn1209=) c.3395A= (p.Asn1132=) c.3296A= (p.Asn1099=) c.2477A= (p.Asn826=) n.4028A= | |
13 | g.51937571del | CA658823696 | ATP7B | c.*1459del (n.*1459del) c.*2553del (n.*2553del) c.3188del (p.Asn1063MetfsTer?) c.3809del (p.Asn1270MetfsTer?) c.3476del (p.Asn1159MetfsTer?) c.3557del (p.Asn1186MetfsTer?) n.1050del c.3575del (p.Asn1192MetfsTer?) n.3948del n.675del c.2744del (p.Asn915MetfsTer?) c.2519del (p.Asn840MetfsTer?) c.3614del (p.Asn1205MetfsTer?) c.1587del c.*910del (n.*910del) n.4553del n.3154del c.3665del (p.Asn1222MetfsTer?) c.3713del (p.Asn1238MetfsTer?) c.3773del (p.Asn1258MetfsTer?) c.3323del (p.Asn1108MetfsTer?) c.1625del (p.Asn542MetfsTer?) c.1442del (p.Asn481MetfsTer?) c.3674del (p.Asn1225MetfsTer?) c.3626del (p.Asn1209MetfsTer?) c.3395del (p.Asn1132MetfsTer?) c.3296del (p.Asn1099MetfsTer?) c.2477del (p.Asn826MetfsTer?) n.4028del | ClinVar dbSNP |
13 | g.51937571T>A | CA388021967 | ATP7B | c.*1458A>T (n.*1458A>T) c.*2552A>T (n.*2552A>T) c.3187A>T (p.Asn1063Tyr) c.3808A>T (p.Asn1270Tyr) c.3475A>T (p.Asn1159Tyr) c.3556A>T (p.Asn1186Tyr) n.1049A>T c.3574A>T (p.Asn1192Tyr) n.3947A>T n.674A>T c.2743A>T (p.Asn915Tyr) c.2518A>T (p.Asn840Tyr) c.3613A>T (p.Asn1205Tyr) c.1586A>T c.*909A>T (n.*909A>T) n.4552A>T n.3153A>T c.3664A>T (p.Asn1222Tyr) c.3712A>T (p.Asn1238Tyr) c.3772A>T (p.Asn1258Tyr) c.3322A>T (p.Asn1108Tyr) c.1624A>T (p.Asn542Tyr) c.1441A>T (p.Asn481Tyr) c.3673A>T (p.Asn1225Tyr) c.3625A>T (p.Asn1209Tyr) c.3394A>T (p.Asn1132Tyr) c.3295A>T (p.Asn1099Tyr) c.2476A>T (p.Asn826Tyr) n.4027A>T | gnomAD v4 |
13 | g.51937571T>C | CA250073678 | ATP7B | c.*1458A>G (n.*1458A>G) c.*2552A>G (n.*2552A>G) c.3187A>G (p.Asn1063Asp) c.3808A>G (p.Asn1270Asp) c.3475A>G (p.Asn1159Asp) c.3556A>G (p.Asn1186Asp) n.1049A>G c.3574A>G (p.Asn1192Asp) n.3947A>G n.674A>G c.2743A>G (p.Asn915Asp) c.2518A>G (p.Asn840Asp) c.3613A>G (p.Asn1205Asp) c.1586A>G c.*909A>G (n.*909A>G) n.4552A>G n.3153A>G c.3664A>G (p.Asn1222Asp) c.3712A>G (p.Asn1238Asp) c.3772A>G (p.Asn1258Asp) c.3322A>G (p.Asn1108Asp) c.1624A>G (p.Asn542Asp) c.1441A>G (p.Asn481Asp) c.3673A>G (p.Asn1225Asp) c.3625A>G (p.Asn1209Asp) c.3394A>G (p.Asn1132Asp) c.3295A>G (p.Asn1099Asp) c.2476A>G (p.Asn826Asp) n.4027A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937571T>G | CA388021963 | ATP7B | c.*1458A>C (n.*1458A>C) c.*2552A>C (n.*2552A>C) c.3187A>C (p.Asn1063His) c.3808A>C (p.Asn1270His) c.3475A>C (p.Asn1159His) c.3556A>C (p.Asn1186His) n.1049A>C c.3574A>C (p.Asn1192His) n.3947A>C n.674A>C c.2743A>C (p.Asn915His) c.2518A>C (p.Asn840His) c.3613A>C (p.Asn1205His) c.1586A>C c.*909A>C (n.*909A>C) n.4552A>C n.3153A>C c.3664A>C (p.Asn1222His) c.3712A>C (p.Asn1238His) c.3772A>C (p.Asn1258His) c.3322A>C (p.Asn1108His) c.1624A>C (p.Asn542His) c.1441A>C (p.Asn481His) c.3673A>C (p.Asn1225His) c.3625A>C (p.Asn1209His) c.3394A>C (p.Asn1132His) c.3295A>C (p.Asn1099His) c.2476A>C (p.Asn826His) n.4027A>C | |
13 | g.51937571T= | CA2091554016 | ATP7B | c.*1458A= (n.*1458A=) c.*2552A= (n.*2552A=) c.3187A= (p.Asn1063=) c.3808A= (p.Asn1270=) c.3475A= (p.Asn1159=) c.3556A= (p.Asn1186=) n.1049A= c.3574A= (p.Asn1192=) n.3947A= n.674A= c.2743A= (p.Asn915=) c.2518A= (p.Asn840=) c.3613A= (p.Asn1205=) c.1586A= c.*909A= (n.*909A=) n.4552A= n.3153A= c.3664A= (p.Asn1222=) c.3712A= (p.Asn1238=) c.3772A= (p.Asn1258=) c.3322A= (p.Asn1108=) c.1624A= (p.Asn542=) c.1441A= (p.Asn481=) c.3673A= (p.Asn1225=) c.3625A= (p.Asn1209=) c.3394A= (p.Asn1132=) c.3295A= (p.Asn1099=) c.2476A= (p.Asn826=) n.4027A= | |
13 | g.51937572G>A | CA484024333 | ATP7B | c.*1457C>T (n.*1457C>T) c.*2551C>T (n.*2551C>T) c.3186C>T (p.Val1062=) c.3807C>T (p.Val1269=) c.3474C>T (p.Val1158=) c.3555C>T (p.Val1185=) n.1048C>T c.3573C>T (p.Val1191=) n.3946C>T n.673C>T c.2742C>T (p.Val914=) c.2517C>T (p.Val839=) c.3612C>T (p.Val1204=) c.1585C>T c.*908C>T (n.*908C>T) n.4551C>T n.3152C>T c.3663C>T (p.Val1221=) c.3711C>T (p.Val1237=) c.3771C>T (p.Val1257=) c.3321C>T (p.Val1107=) c.1623C>T (p.Val541=) c.1440C>T (p.Val480=) c.3672C>T (p.Val1224=) c.3624C>T (p.Val1208=) c.3393C>T (p.Val1131=) c.3294C>T (p.Val1098=) c.2475C>T (p.Val825=) n.4026C>T | |
13 | g.51937572G>C | CA484024335 | ATP7B | c.*1457C>G (n.*1457C>G) c.*2551C>G (n.*2551C>G) c.3186C>G (p.Val1062=) c.3807C>G (p.Val1269=) c.3474C>G (p.Val1158=) c.3555C>G (p.Val1185=) n.1048C>G c.3573C>G (p.Val1191=) n.3946C>G n.673C>G c.2742C>G (p.Val914=) c.2517C>G (p.Val839=) c.3612C>G (p.Val1204=) c.1585C>G c.*908C>G (n.*908C>G) n.4551C>G n.3152C>G c.3663C>G (p.Val1221=) c.3711C>G (p.Val1237=) c.3771C>G (p.Val1257=) c.3321C>G (p.Val1107=) c.1623C>G (p.Val541=) c.1440C>G (p.Val480=) c.3672C>G (p.Val1224=) c.3624C>G (p.Val1208=) c.3393C>G (p.Val1131=) c.3294C>G (p.Val1098=) c.2475C>G (p.Val825=) n.4026C>G | dbSNP |
13 | g.51937572G= | CA2091554019 | ATP7B | c.*1457C= (n.*1457C=) c.*2551C= (n.*2551C=) c.3186C= (p.Val1062=) c.3807C= (p.Val1269=) c.3474C= (p.Val1158=) c.3555C= (p.Val1185=) n.1048C= c.3573C= (p.Val1191=) n.3946C= n.673C= c.2742C= (p.Val914=) c.2517C= (p.Val839=) c.3612C= (p.Val1204=) c.1585C= c.*908C= (n.*908C=) n.4551C= n.3152C= c.3663C= (p.Val1221=) c.3711C= (p.Val1237=) c.3771C= (p.Val1257=) c.3321C= (p.Val1107=) c.1623C= (p.Val541=) c.1440C= (p.Val480=) c.3672C= (p.Val1224=) c.3624C= (p.Val1208=) c.3393C= (p.Val1131=) c.3294C= (p.Val1098=) c.2475C= (p.Val825=) n.4026C= | |
13 | g.51937572G>T | CA484024334 | ATP7B | c.*1457C>A (n.*1457C>A) c.*2551C>A (n.*2551C>A) c.3186C>A (p.Val1062=) c.3807C>A (p.Val1269=) c.3474C>A (p.Val1158=) c.3555C>A (p.Val1185=) n.1048C>A c.3573C>A (p.Val1191=) n.3946C>A n.673C>A c.2742C>A (p.Val914=) c.2517C>A (p.Val839=) c.3612C>A (p.Val1204=) c.1585C>A c.*908C>A (n.*908C>A) n.4551C>A n.3152C>A c.3663C>A (p.Val1221=) c.3711C>A (p.Val1237=) c.3771C>A (p.Val1257=) c.3321C>A (p.Val1107=) c.1623C>A (p.Val541=) c.1440C>A (p.Val480=) c.3672C>A (p.Val1224=) c.3624C>A (p.Val1208=) c.3393C>A (p.Val1131=) c.3294C>A (p.Val1098=) c.2475C>A (p.Val825=) n.4026C>A | |
13 | g.51937573A>C | CA388021971 | ATP7B | c.*1456T>G (n.*1456T>G) c.*2550T>G (n.*2550T>G) c.3185T>G (p.Val1062Gly) c.3806T>G (p.Val1269Gly) c.3473T>G (p.Val1158Gly) c.3554T>G (p.Val1185Gly) n.1047T>G c.3572T>G (p.Val1191Gly) n.3945T>G n.672T>G c.2741T>G (p.Val914Gly) c.2516T>G (p.Val839Gly) c.3611T>G (p.Val1204Gly) c.1584T>G c.*907T>G (n.*907T>G) n.4550T>G n.3151T>G c.3662T>G (p.Val1221Gly) c.3710T>G (p.Val1237Gly) c.3770T>G (p.Val1257Gly) c.3320T>G (p.Val1107Gly) c.1622T>G (p.Val541Gly) c.1439T>G (p.Val480Gly) c.3671T>G (p.Val1224Gly) c.3623T>G (p.Val1208Gly) c.3392T>G (p.Val1131Gly) c.3293T>G (p.Val1098Gly) c.2474T>G (p.Val825Gly) n.4025T>G | |
13 | g.51937573A>G | CA388021972 | ATP7B | c.*1456T>C (n.*1456T>C) c.*2550T>C (n.*2550T>C) c.3185T>C (p.Val1062Ala) c.3806T>C (p.Val1269Ala) c.3473T>C (p.Val1158Ala) c.3554T>C (p.Val1185Ala) n.1047T>C c.3572T>C (p.Val1191Ala) n.3945T>C n.672T>C c.2741T>C (p.Val914Ala) c.2516T>C (p.Val839Ala) c.3611T>C (p.Val1204Ala) c.1584T>C c.*907T>C (n.*907T>C) n.4550T>C n.3151T>C c.3662T>C (p.Val1221Ala) c.3710T>C (p.Val1237Ala) c.3770T>C (p.Val1257Ala) c.3320T>C (p.Val1107Ala) c.1622T>C (p.Val541Ala) c.1439T>C (p.Val480Ala) c.3671T>C (p.Val1224Ala) c.3623T>C (p.Val1208Ala) c.3392T>C (p.Val1131Ala) c.3293T>C (p.Val1098Ala) c.2474T>C (p.Val825Ala) n.4025T>C | |
13 | g.51937573A>T | CA388021974 | ATP7B | c.*1456T>A (n.*1456T>A) c.*2550T>A (n.*2550T>A) c.3185T>A (p.Val1062Asp) c.3806T>A (p.Val1269Asp) c.3473T>A (p.Val1158Asp) c.3554T>A (p.Val1185Asp) n.1047T>A c.3572T>A (p.Val1191Asp) n.3945T>A n.672T>A c.2741T>A (p.Val914Asp) c.2516T>A (p.Val839Asp) c.3611T>A (p.Val1204Asp) c.1584T>A c.*907T>A (n.*907T>A) n.4550T>A n.3151T>A c.3662T>A (p.Val1221Asp) c.3710T>A (p.Val1237Asp) c.3770T>A (p.Val1257Asp) c.3320T>A (p.Val1107Asp) c.1622T>A (p.Val541Asp) c.1439T>A (p.Val480Asp) c.3671T>A (p.Val1224Asp) c.3623T>A (p.Val1208Asp) c.3392T>A (p.Val1131Asp) c.3293T>A (p.Val1098Asp) c.2474T>A (p.Val825Asp) n.4025T>A | |
13 | g.51937574C>A | CA388021976 | ATP7B | c.*1455G>T (n.*1455G>T) c.*2549G>T (n.*2549G>T) c.3184G>T (p.Val1062Phe) c.3805G>T (p.Val1269Phe) c.3472G>T (p.Val1158Phe) c.3553G>T (p.Val1185Phe) n.1046G>T c.3571G>T (p.Val1191Phe) n.3944G>T n.671G>T c.2740G>T (p.Val914Phe) c.2515G>T (p.Val839Phe) c.3610G>T (p.Val1204Phe) c.1583G>T c.*906G>T (n.*906G>T) n.4549G>T n.3150G>T c.3661G>T (p.Val1221Phe) c.3709G>T (p.Val1237Phe) c.3769G>T (p.Val1257Phe) c.3319G>T (p.Val1107Phe) c.1621G>T (p.Val541Phe) c.1438G>T (p.Val480Phe) c.3670G>T (p.Val1224Phe) c.3622G>T (p.Val1208Phe) c.3391G>T (p.Val1131Phe) c.3292G>T (p.Val1098Phe) c.2473G>T (p.Val825Phe) n.4024G>T | |
13 | g.51937574C= | CA2091554022 | ATP7B | c.*1455G= (n.*1455G=) c.*2549G= (n.*2549G=) c.3184G= (p.Val1062=) c.3805G= (p.Val1269=) c.3472G= (p.Val1158=) c.3553G= (p.Val1185=) n.1046G= c.3571G= (p.Val1191=) n.3944G= n.671G= c.2740G= (p.Val914=) c.2515G= (p.Val839=) c.3610G= (p.Val1204=) c.1583G= c.*906G= (n.*906G=) n.4549G= n.3150G= c.3661G= (p.Val1221=) c.3709G= (p.Val1237=) c.3769G= (p.Val1257=) c.3319G= (p.Val1107=) c.1621G= (p.Val541=) c.1438G= (p.Val480=) c.3670G= (p.Val1224=) c.3622G= (p.Val1208=) c.3391G= (p.Val1131=) c.3292G= (p.Val1098=) c.2473G= (p.Val825=) n.4024G= | |
13 | g.51937574C>G | CA250073682 | ATP7B | c.*1455G>C (n.*1455G>C) c.*2549G>C (n.*2549G>C) c.3184G>C (p.Val1062Leu) c.3805G>C (p.Val1269Leu) c.3472G>C (p.Val1158Leu) c.3553G>C (p.Val1185Leu) n.1046G>C c.3571G>C (p.Val1191Leu) n.3944G>C n.671G>C c.2740G>C (p.Val914Leu) c.2515G>C (p.Val839Leu) c.3610G>C (p.Val1204Leu) c.1583G>C c.*906G>C (n.*906G>C) n.4549G>C n.3150G>C c.3661G>C (p.Val1221Leu) c.3709G>C (p.Val1237Leu) c.3769G>C (p.Val1257Leu) c.3319G>C (p.Val1107Leu) c.1621G>C (p.Val541Leu) c.1438G>C (p.Val480Leu) c.3670G>C (p.Val1224Leu) c.3622G>C (p.Val1208Leu) c.3391G>C (p.Val1131Leu) c.3292G>C (p.Val1098Leu) c.2473G>C (p.Val825Leu) n.4024G>C | dbSNP |
13 | g.51937574C>T | CA388021984 | ATP7B | c.*1455G>A (n.*1455G>A) c.*2549G>A (n.*2549G>A) c.3184G>A (p.Val1062Ile) c.3805G>A (p.Val1269Ile) c.3472G>A (p.Val1158Ile) c.3553G>A (p.Val1185Ile) n.1046G>A c.3571G>A (p.Val1191Ile) n.3944G>A n.671G>A c.2740G>A (p.Val914Ile) c.2515G>A (p.Val839Ile) c.3610G>A (p.Val1204Ile) c.1583G>A c.*906G>A (n.*906G>A) n.4549G>A n.3150G>A c.3661G>A (p.Val1221Ile) c.3709G>A (p.Val1237Ile) c.3769G>A (p.Val1257Ile) c.3319G>A (p.Val1107Ile) c.1621G>A (p.Val541Ile) c.1438G>A (p.Val480Ile) c.3670G>A (p.Val1224Ile) c.3622G>A (p.Val1208Ile) c.3391G>A (p.Val1131Ile) c.3292G>A (p.Val1098Ile) c.2473G>A (p.Val825Ile) n.4024G>A | |
13 | g.51937577dup | CA2573053840 | ATP7B | c.*1455dup (n.*1455dup) c.*2549dup (n.*2549dup) c.3184dup (p.Val1062GlyfsTer3) c.3805dup (p.Val1269GlyfsTer3) c.3472dup (p.Val1158GlyfsTer3) c.3553dup (p.Val1185GlyfsTer3) n.1046dup c.3571dup (p.Val1191GlyfsTer3) n.3944dup n.671dup c.2740dup (p.Val914GlyfsTer3) c.2515dup (p.Val839GlyfsTer3) c.3610dup (p.Val1204GlyfsTer3) c.1583dup c.*906dup (n.*906dup) n.4549dup n.3150dup c.3661dup (p.Val1221GlyfsTer3) c.3709dup (p.Val1237GlyfsTer3) c.3769dup (p.Val1257GlyfsTer3) c.3319dup (p.Val1107GlyfsTer3) c.1621dup (p.Val541GlyfsTer3) c.1438dup (p.Val480GlyfsTer3) c.3670dup (p.Val1224GlyfsTer3) c.3622dup (p.Val1208GlyfsTer3) c.3391dup (p.Val1131GlyfsTer3) c.3292dup (p.Val1098GlyfsTer3) c.2473dup (p.Val825GlyfsTer3) n.4024dup | ClinVar dbSNP |
13 | g.51937575C>A | CA484024338 | ATP7B | c.*1454G>T (n.*1454G>T) c.*2548G>T (n.*2548G>T) c.3183G>T (p.Gly1061=) c.3804G>T (p.Gly1268=) c.3471G>T (p.Gly1157=) c.3552G>T (p.Gly1184=) n.1045G>T c.3570G>T (p.Gly1190=) n.3943G>T n.670G>T c.2739G>T (p.Gly913=) c.2514G>T (p.Gly838=) c.3609G>T (p.Gly1203=) c.1582G>T c.*905G>T (n.*905G>T) n.4548G>T n.3149G>T c.3660G>T (p.Gly1220=) c.3708G>T (p.Gly1236=) c.3768G>T (p.Gly1256=) c.3318G>T (p.Gly1106=) c.1620G>T (p.Gly540=) c.1437G>T (p.Gly479=) c.3669G>T (p.Gly1223=) c.3621G>T (p.Gly1207=) c.3390G>T (p.Gly1130=) c.3291G>T (p.Gly1097=) c.2472G>T (p.Gly824=) n.4023G>T | |
13 | g.51937575C>G | CA484024337 | ATP7B | c.*1454G>C (n.*1454G>C) c.*2548G>C (n.*2548G>C) c.3183G>C (p.Gly1061=) c.3804G>C (p.Gly1268=) c.3471G>C (p.Gly1157=) c.3552G>C (p.Gly1184=) n.1045G>C c.3570G>C (p.Gly1190=) n.3943G>C n.670G>C c.2739G>C (p.Gly913=) c.2514G>C (p.Gly838=) c.3609G>C (p.Gly1203=) c.1582G>C c.*905G>C (n.*905G>C) n.4548G>C n.3149G>C c.3660G>C (p.Gly1220=) c.3708G>C (p.Gly1236=) c.3768G>C (p.Gly1256=) c.3318G>C (p.Gly1106=) c.1620G>C (p.Gly540=) c.1437G>C (p.Gly479=) c.3669G>C (p.Gly1223=) c.3621G>C (p.Gly1207=) c.3390G>C (p.Gly1130=) c.3291G>C (p.Gly1097=) c.2472G>C (p.Gly824=) n.4023G>C | gnomAD v4 |
13 | g.51937575C>T | CA484024336 | ATP7B | c.*1454G>A (n.*1454G>A) c.*2548G>A (n.*2548G>A) c.3183G>A (p.Gly1061=) c.3804G>A (p.Gly1268=) c.3471G>A (p.Gly1157=) c.3552G>A (p.Gly1184=) n.1045G>A c.3570G>A (p.Gly1190=) n.3943G>A n.670G>A c.2739G>A (p.Gly913=) c.2514G>A (p.Gly838=) c.3609G>A (p.Gly1203=) c.1582G>A c.*905G>A (n.*905G>A) n.4548G>A n.3149G>A c.3660G>A (p.Gly1220=) c.3708G>A (p.Gly1236=) c.3768G>A (p.Gly1256=) c.3318G>A (p.Gly1106=) c.1620G>A (p.Gly540=) c.1437G>A (p.Gly479=) c.3669G>A (p.Gly1223=) c.3621G>A (p.Gly1207=) c.3390G>A (p.Gly1130=) c.3291G>A (p.Gly1097=) c.2472G>A (p.Gly824=) n.4023G>A | |
13 | g.51937576C>A | CA388021987 | ATP7B | c.*1453G>T (n.*1453G>T) c.*2547G>T (n.*2547G>T) c.3182G>T (p.Gly1061Val) c.3803G>T (p.Gly1268Val) c.3470G>T (p.Gly1157Val) c.3551G>T (p.Gly1184Val) n.1044G>T c.3569G>T (p.Gly1190Val) n.3942G>T n.669G>T c.2738G>T (p.Gly913Val) c.2513G>T (p.Gly838Val) c.3608G>T (p.Gly1203Val) c.1581G>T c.*904G>T (n.*904G>T) n.4547G>T n.3148G>T c.3659G>T (p.Gly1220Val) c.3707G>T (p.Gly1236Val) c.3767G>T (p.Gly1256Val) c.3317G>T (p.Gly1106Val) c.1619G>T (p.Gly540Val) c.1436G>T (p.Gly479Val) c.3668G>T (p.Gly1223Val) c.3620G>T (p.Gly1207Val) c.3389G>T (p.Gly1130Val) c.3290G>T (p.Gly1097Val) c.2471G>T (p.Gly824Val) n.4022G>T | |
13 | g.51937576C>G | CA388021989 | ATP7B | c.*1453G>C (n.*1453G>C) c.*2547G>C (n.*2547G>C) c.3182G>C (p.Gly1061Ala) c.3803G>C (p.Gly1268Ala) c.3470G>C (p.Gly1157Ala) c.3551G>C (p.Gly1184Ala) n.1044G>C c.3569G>C (p.Gly1190Ala) n.3942G>C n.669G>C c.2738G>C (p.Gly913Ala) c.2513G>C (p.Gly838Ala) c.3608G>C (p.Gly1203Ala) c.1581G>C c.*904G>C (n.*904G>C) n.4547G>C n.3148G>C c.3659G>C (p.Gly1220Ala) c.3707G>C (p.Gly1236Ala) c.3767G>C (p.Gly1256Ala) c.3317G>C (p.Gly1106Ala) c.1619G>C (p.Gly540Ala) c.1436G>C (p.Gly479Ala) c.3668G>C (p.Gly1223Ala) c.3620G>C (p.Gly1207Ala) c.3389G>C (p.Gly1130Ala) c.3290G>C (p.Gly1097Ala) c.2471G>C (p.Gly824Ala) n.4022G>C | |
13 | g.51937576C>T | CA388021990 | ATP7B | c.*1453G>A (n.*1453G>A) c.*2547G>A (n.*2547G>A) c.3182G>A (p.Gly1061Glu) c.3803G>A (p.Gly1268Glu) c.3470G>A (p.Gly1157Glu) c.3551G>A (p.Gly1184Glu) n.1044G>A c.3569G>A (p.Gly1190Glu) n.3942G>A n.669G>A c.2738G>A (p.Gly913Glu) c.2513G>A (p.Gly838Glu) c.3608G>A (p.Gly1203Glu) c.1581G>A c.*904G>A (n.*904G>A) n.4547G>A n.3148G>A c.3659G>A (p.Gly1220Glu) c.3707G>A (p.Gly1236Glu) c.3767G>A (p.Gly1256Glu) c.3317G>A (p.Gly1106Glu) c.1619G>A (p.Gly540Glu) c.1436G>A (p.Gly479Glu) c.3668G>A (p.Gly1223Glu) c.3620G>A (p.Gly1207Glu) c.3389G>A (p.Gly1130Glu) c.3290G>A (p.Gly1097Glu) c.2471G>A (p.Gly824Glu) n.4022G>A | |
13 | g.51937580_51937589del | CA2695218758 | ATP7B | c.*1444_*1453del (n.*1444_*1453del) c.*2538_*2547del (n.*2538_*2547del) c.3173_3182del (p.Val1058GlyfsTer?) c.3794_3803del (p.Val1265GlyfsTer?) c.3461_3470del (p.Val1154GlyfsTer?) c.3542_3551del (p.Val1181GlyfsTer?) n.1035_1044del c.3560_3569del (p.Val1187GlyfsTer?) n.3933_3942del n.660_669del c.2729_2738del (p.Val910GlyfsTer?) c.2504_2513del (p.Val835GlyfsTer?) c.3599_3608del (p.Val1200GlyfsTer?) c.1572_1581del c.*895_*904del (n.*895_*904del) n.4538_4547del n.3139_3148del c.3650_3659del (p.Val1217GlyfsTer?) c.3698_3707del (p.Val1233GlyfsTer?) c.3758_3767del (p.Val1253GlyfsTer?) c.3308_3317del (p.Val1103GlyfsTer?) c.1610_1619del (p.Val537GlyfsTer?) c.1427_1436del (p.Val476GlyfsTer?) c.3659_3668del (p.Val1220GlyfsTer?) c.3611_3620del (p.Val1204GlyfsTer?) c.3380_3389del (p.Val1127GlyfsTer?) c.3281_3290del (p.Val1094GlyfsTer?) c.2462_2471del (p.Val821GlyfsTer?) n.4013_4022del | |
13 | g.51937577C>A | CA388021992 | ATP7B | c.*1452G>T (n.*1452G>T) c.*2546G>T (n.*2546G>T) c.3181G>T (p.Gly1061Trp) c.3802G>T (p.Gly1268Trp) c.3469G>T (p.Gly1157Trp) c.3550G>T (p.Gly1184Trp) n.1043G>T c.3568G>T (p.Gly1190Trp) n.3941G>T n.668G>T c.2737G>T (p.Gly913Trp) c.2512G>T (p.Gly838Trp) c.3607G>T (p.Gly1203Trp) c.1580G>T c.*903G>T (n.*903G>T) n.4546G>T n.3147G>T c.3658G>T (p.Gly1220Trp) c.3706G>T (p.Gly1236Trp) c.3766G>T (p.Gly1256Trp) c.3316G>T (p.Gly1106Trp) c.1618G>T (p.Gly540Trp) c.1435G>T (p.Gly479Trp) c.3667G>T (p.Gly1223Trp) c.3619G>T (p.Gly1207Trp) c.3388G>T (p.Gly1130Trp) c.3289G>T (p.Gly1097Trp) c.2470G>T (p.Gly824Trp) n.4021G>T | |
13 | g.51937577C= | CA2091554030 | ATP7B | c.*1452G= (n.*1452G=) c.*2546G= (n.*2546G=) c.3181G= (p.Gly1061=) c.3802G= (p.Gly1268=) c.3469G= (p.Gly1157=) c.3550G= (p.Gly1184=) n.1043G= c.3568G= (p.Gly1190=) n.3941G= n.668G= c.2737G= (p.Gly913=) c.2512G= (p.Gly838=) c.3607G= (p.Gly1203=) c.1580G= c.*903G= (n.*903G=) n.4546G= n.3147G= c.3658G= (p.Gly1220=) c.3706G= (p.Gly1236=) c.3766G= (p.Gly1256=) c.3316G= (p.Gly1106=) c.1618G= (p.Gly540=) c.1435G= (p.Gly479=) c.3667G= (p.Gly1223=) c.3619G= (p.Gly1207=) c.3388G= (p.Gly1130=) c.3289G= (p.Gly1097=) c.2470G= (p.Gly824=) n.4021G= | |
13 | g.51937577C>G | CA388021993 | ATP7B | c.*1452G>C (n.*1452G>C) c.*2546G>C (n.*2546G>C) c.3181G>C (p.Gly1061Arg) c.3802G>C (p.Gly1268Arg) c.3469G>C (p.Gly1157Arg) c.3550G>C (p.Gly1184Arg) n.1043G>C c.3568G>C (p.Gly1190Arg) n.3941G>C n.668G>C c.2737G>C (p.Gly913Arg) c.2512G>C (p.Gly838Arg) c.3607G>C (p.Gly1203Arg) c.1580G>C c.*903G>C (n.*903G>C) n.4546G>C n.3147G>C c.3658G>C (p.Gly1220Arg) c.3706G>C (p.Gly1236Arg) c.3766G>C (p.Gly1256Arg) c.3316G>C (p.Gly1106Arg) c.1618G>C (p.Gly540Arg) c.1435G>C (p.Gly479Arg) c.3667G>C (p.Gly1223Arg) c.3619G>C (p.Gly1207Arg) c.3388G>C (p.Gly1130Arg) c.3289G>C (p.Gly1097Arg) c.2470G>C (p.Gly824Arg) n.4021G>C | |
13 | g.51937577C>T | CA388021995 | ATP7B | c.*1452G>A (n.*1452G>A) c.*2546G>A (n.*2546G>A) c.3181G>A (p.Gly1061Arg) c.3802G>A (p.Gly1268Arg) c.3469G>A (p.Gly1157Arg) c.3550G>A (p.Gly1184Arg) n.1043G>A c.3568G>A (p.Gly1190Arg) n.3941G>A n.668G>A c.2737G>A (p.Gly913Arg) c.2512G>A (p.Gly838Arg) c.3607G>A (p.Gly1203Arg) c.1580G>A c.*903G>A (n.*903G>A) n.4546G>A n.3147G>A c.3658G>A (p.Gly1220Arg) c.3706G>A (p.Gly1236Arg) c.3766G>A (p.Gly1256Arg) c.3316G>A (p.Gly1106Arg) c.1618G>A (p.Gly540Arg) c.1435G>A (p.Gly479Arg) c.3667G>A (p.Gly1223Arg) c.3619G>A (p.Gly1207Arg) c.3388G>A (p.Gly1130Arg) c.3289G>A (p.Gly1097Arg) c.2470G>A (p.Gly824Arg) n.4021G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937578A>C | CA388022001 | ATP7B | c.*1451T>G (n.*1451T>G) c.*2545T>G (n.*2545T>G) c.3180T>G (p.Asp1060Glu) c.3801T>G (p.Asp1267Glu) c.3468T>G (p.Asp1156Glu) c.3549T>G (p.Asp1183Glu) n.1042T>G c.3567T>G (p.Asp1189Glu) n.3940T>G n.667T>G c.2736T>G (p.Asp912Glu) c.2511T>G (p.Asp837Glu) c.3606T>G (p.Asp1202Glu) c.1579T>G c.*902T>G (n.*902T>G) n.4545T>G n.3146T>G c.3657T>G (p.Asp1219Glu) c.3705T>G (p.Asp1235Glu) c.3765T>G (p.Asp1255Glu) c.3315T>G (p.Asp1105Glu) c.1617T>G (p.Asp539Glu) c.1434T>G (p.Asp478Glu) c.3666T>G (p.Asp1222Glu) c.3618T>G (p.Asp1206Glu) c.3387T>G (p.Asp1129Glu) c.3288T>G (p.Asp1096Glu) c.2469T>G (p.Asp823Glu) n.4020T>G | |
13 | g.51937578A>G | CA484024339 | ATP7B | c.*1451T>C (n.*1451T>C) c.*2545T>C (n.*2545T>C) c.3180T>C (p.Asp1060=) c.3801T>C (p.Asp1267=) c.3468T>C (p.Asp1156=) c.3549T>C (p.Asp1183=) n.1042T>C c.3567T>C (p.Asp1189=) n.3940T>C n.667T>C c.2736T>C (p.Asp912=) c.2511T>C (p.Asp837=) c.3606T>C (p.Asp1202=) c.1579T>C c.*902T>C (n.*902T>C) n.4545T>C n.3146T>C c.3657T>C (p.Asp1219=) c.3705T>C (p.Asp1235=) c.3765T>C (p.Asp1255=) c.3315T>C (p.Asp1105=) c.1617T>C (p.Asp539=) c.1434T>C (p.Asp478=) c.3666T>C (p.Asp1222=) c.3618T>C (p.Asp1206=) c.3387T>C (p.Asp1129=) c.3288T>C (p.Asp1096=) c.2469T>C (p.Asp823=) n.4020T>C | |
13 | g.51937578A>T | CA388022002 | ATP7B | c.*1451T>A (n.*1451T>A) c.*2545T>A (n.*2545T>A) c.3180T>A (p.Asp1060Glu) c.3801T>A (p.Asp1267Glu) c.3468T>A (p.Asp1156Glu) c.3549T>A (p.Asp1183Glu) n.1042T>A c.3567T>A (p.Asp1189Glu) n.3940T>A n.667T>A c.2736T>A (p.Asp912Glu) c.2511T>A (p.Asp837Glu) c.3606T>A (p.Asp1202Glu) c.1579T>A c.*902T>A (n.*902T>A) n.4545T>A n.3146T>A c.3657T>A (p.Asp1219Glu) c.3705T>A (p.Asp1235Glu) c.3765T>A (p.Asp1255Glu) c.3315T>A (p.Asp1105Glu) c.1617T>A (p.Asp539Glu) c.1434T>A (p.Asp478Glu) c.3666T>A (p.Asp1222Glu) c.3618T>A (p.Asp1206Glu) c.3387T>A (p.Asp1129Glu) c.3288T>A (p.Asp1096Glu) c.2469T>A (p.Asp823Glu) n.4020T>A | |
13 | g.51937578_51937579delinsAT | CA2091554035 | ATP7B | c.*1450_*1451delinsAT (n.*1450_*1451delinsAT) c.*2544_*2545delinsAT (n.*2544_*2545delinsAT) c.3179_3180delinsAT (p.Asp1060=) c.3800_3801delinsAT (p.Asp1267=) c.3467_3468delinsAT (p.Asp1156=) c.3548_3549delinsAT (p.Asp1183=) n.1041_1042delinsAT c.3566_3567delinsAT (p.Asp1189=) n.3939_3940delinsAT n.666_667delinsAT c.2735_2736delinsAT (p.Asp912=) c.2510_2511delinsAT (p.Asp837=) c.3605_3606delinsAT (p.Asp1202=) c.1578_1579delinsAT c.*901_*902delinsAT (n.*901_*902delinsAT) n.4544_4545delinsAT n.3145_3146delinsAT c.3656_3657delinsAT (p.Asp1219=) c.3704_3705delinsAT (p.Asp1235=) c.3764_3765delinsAT (p.Asp1255=) c.3314_3315delinsAT (p.Asp1105=) c.1616_1617delinsAT (p.Asp539=) c.1433_1434delinsAT (p.Asp478=) c.3665_3666delinsAT (p.Asp1222=) c.3617_3618delinsAT (p.Asp1206=) c.3386_3387delinsAT (p.Asp1129=) c.3287_3288delinsAT (p.Asp1096=) c.2468_2469delinsAT (p.Asp823=) n.4019_4020delinsAT | |
13 | g.51937579del | CA16041664 | ATP7B | c.*1450del (n.*1450del) c.*2544del (n.*2544del) c.3179del (p.Asp1060ValfsTer?) c.3800del (p.Asp1267ValfsTer?) c.3467del (p.Asp1156ValfsTer?) c.3548del (p.Asp1183ValfsTer?) n.1041del c.3566del (p.Asp1189ValfsTer?) n.3939del n.666del c.2735del (p.Asp912ValfsTer?) c.2510del (p.Asp837ValfsTer?) c.3605del (p.Asp1202ValfsTer?) c.1578del c.*901del (n.*901del) n.4544del n.3145del c.3656del (p.Asp1219ValfsTer?) c.3704del (p.Asp1235ValfsTer?) c.3764del (p.Asp1255ValfsTer?) c.3314del (p.Asp1105ValfsTer?) c.1616del (p.Asp539ValfsTer?) c.1433del (p.Asp478ValfsTer?) c.3665del (p.Asp1222ValfsTer?) c.3617del (p.Asp1206ValfsTer?) c.3386del (p.Asp1129ValfsTer?) c.3287del (p.Asp1096ValfsTer?) c.2468del (p.Asp823ValfsTer?) n.4019del | ClinVar dbSNP |
13 | g.51937579T>A | CA388022006 | ATP7B | c.*1450A>T (n.*1450A>T) c.*2544A>T (n.*2544A>T) c.3179A>T (p.Asp1060Val) c.3800A>T (p.Asp1267Val) c.3467A>T (p.Asp1156Val) c.3548A>T (p.Asp1183Val) n.1041A>T c.3566A>T (p.Asp1189Val) n.3939A>T n.666A>T c.2735A>T (p.Asp912Val) c.2510A>T (p.Asp837Val) c.3605A>T (p.Asp1202Val) c.1578A>T c.*901A>T (n.*901A>T) n.4544A>T n.3145A>T c.3656A>T (p.Asp1219Val) c.3704A>T (p.Asp1235Val) c.3764A>T (p.Asp1255Val) c.3314A>T (p.Asp1105Val) c.1616A>T (p.Asp539Val) c.1433A>T (p.Asp478Val) c.3665A>T (p.Asp1222Val) c.3617A>T (p.Asp1206Val) c.3386A>T (p.Asp1129Val) c.3287A>T (p.Asp1096Val) c.2468A>T (p.Asp823Val) n.4019A>T | dbSNP gnomAD v4 |
13 | g.51937579T>C | CA388022009 | ATP7B | c.*1450A>G (n.*1450A>G) c.*2544A>G (n.*2544A>G) c.3179A>G (p.Asp1060Gly) c.3800A>G (p.Asp1267Gly) c.3467A>G (p.Asp1156Gly) c.3548A>G (p.Asp1183Gly) n.1041A>G c.3566A>G (p.Asp1189Gly) n.3939A>G n.666A>G c.2735A>G (p.Asp912Gly) c.2510A>G (p.Asp837Gly) c.3605A>G (p.Asp1202Gly) c.1578A>G c.*901A>G (n.*901A>G) n.4544A>G n.3145A>G c.3656A>G (p.Asp1219Gly) c.3704A>G (p.Asp1235Gly) c.3764A>G (p.Asp1255Gly) c.3314A>G (p.Asp1105Gly) c.1616A>G (p.Asp539Gly) c.1433A>G (p.Asp478Gly) c.3665A>G (p.Asp1222Gly) c.3617A>G (p.Asp1206Gly) c.3386A>G (p.Asp1129Gly) c.3287A>G (p.Asp1096Gly) c.2468A>G (p.Asp823Gly) n.4019A>G | |
13 | g.51937579T>G | CA388022010 | ATP7B | c.*1450A>C (n.*1450A>C) c.*2544A>C (n.*2544A>C) c.3179A>C (p.Asp1060Ala) c.3800A>C (p.Asp1267Ala) c.3467A>C (p.Asp1156Ala) c.3548A>C (p.Asp1183Ala) n.1041A>C c.3566A>C (p.Asp1189Ala) n.3939A>C n.666A>C c.2735A>C (p.Asp912Ala) c.2510A>C (p.Asp837Ala) c.3605A>C (p.Asp1202Ala) c.1578A>C c.*901A>C (n.*901A>C) n.4544A>C n.3145A>C c.3656A>C (p.Asp1219Ala) c.3704A>C (p.Asp1235Ala) c.3764A>C (p.Asp1255Ala) c.3314A>C (p.Asp1105Ala) c.1616A>C (p.Asp539Ala) c.1433A>C (p.Asp478Ala) c.3665A>C (p.Asp1222Ala) c.3617A>C (p.Asp1206Ala) c.3386A>C (p.Asp1129Ala) c.3287A>C (p.Asp1096Ala) c.2468A>C (p.Asp823Ala) n.4019A>C | ClinVar dbSNP gnomAD v4 |
13 | g.51937579T= | CA2091554051 | ATP7B | c.*1450A= (n.*1450A=) c.*2544A= (n.*2544A=) c.3179A= (p.Asp1060=) c.3800A= (p.Asp1267=) c.3467A= (p.Asp1156=) c.3548A= (p.Asp1183=) n.1041A= c.3566A= (p.Asp1189=) n.3939A= n.666A= c.2735A= (p.Asp912=) c.2510A= (p.Asp837=) c.3605A= (p.Asp1202=) c.1578A= c.*901A= (n.*901A=) n.4544A= n.3145A= c.3656A= (p.Asp1219=) c.3704A= (p.Asp1235=) c.3764A= (p.Asp1255=) c.3314A= (p.Asp1105=) c.1616A= (p.Asp539=) c.1433A= (p.Asp478=) c.3665A= (p.Asp1222=) c.3617A= (p.Asp1206=) c.3386A= (p.Asp1129=) c.3287A= (p.Asp1096=) c.2468A= (p.Asp823=) n.4019A= | |
13 | g.51937580C>A | CA388022012 | ATP7B | c.*1449G>T (n.*1449G>T) c.*2543G>T (n.*2543G>T) c.3178G>T (p.Asp1060Tyr) c.3799G>T (p.Asp1267Tyr) c.3466G>T (p.Asp1156Tyr) c.3547G>T (p.Asp1183Tyr) n.1040G>T c.3565G>T (p.Asp1189Tyr) n.3938G>T n.665G>T c.2734G>T (p.Asp912Tyr) c.2509G>T (p.Asp837Tyr) c.3604G>T (p.Asp1202Tyr) c.1577G>T c.*900G>T (n.*900G>T) n.4543G>T n.3144G>T c.3655G>T (p.Asp1219Tyr) c.3703G>T (p.Asp1235Tyr) c.3763G>T (p.Asp1255Tyr) c.3313G>T (p.Asp1105Tyr) c.1615G>T (p.Asp539Tyr) c.1432G>T (p.Asp478Tyr) c.3664G>T (p.Asp1222Tyr) c.3616G>T (p.Asp1206Tyr) c.3385G>T (p.Asp1129Tyr) c.3286G>T (p.Asp1096Tyr) c.2467G>T (p.Asp823Tyr) n.4018G>T | |
13 | g.51937580C>G | CA388022014 | ATP7B | c.*1449G>C (n.*1449G>C) c.*2543G>C (n.*2543G>C) c.3178G>C (p.Asp1060His) c.3799G>C (p.Asp1267His) c.3466G>C (p.Asp1156His) c.3547G>C (p.Asp1183His) n.1040G>C c.3565G>C (p.Asp1189His) n.3938G>C n.665G>C c.2734G>C (p.Asp912His) c.2509G>C (p.Asp837His) c.3604G>C (p.Asp1202His) c.1577G>C c.*900G>C (n.*900G>C) n.4543G>C n.3144G>C c.3655G>C (p.Asp1219His) c.3703G>C (p.Asp1235His) c.3763G>C (p.Asp1255His) c.3313G>C (p.Asp1105His) c.1615G>C (p.Asp539His) c.1432G>C (p.Asp478His) c.3664G>C (p.Asp1222His) c.3616G>C (p.Asp1206His) c.3385G>C (p.Asp1129His) c.3286G>C (p.Asp1096His) c.2467G>C (p.Asp823His) n.4018G>C | |
13 | g.51937580C>T | CA388022015 | ATP7B | c.*1449G>A (n.*1449G>A) c.*2543G>A (n.*2543G>A) c.3178G>A (p.Asp1060Asn) c.3799G>A (p.Asp1267Asn) c.3466G>A (p.Asp1156Asn) c.3547G>A (p.Asp1183Asn) n.1040G>A c.3565G>A (p.Asp1189Asn) n.3938G>A n.665G>A c.2734G>A (p.Asp912Asn) c.2509G>A (p.Asp837Asn) c.3604G>A (p.Asp1202Asn) c.1577G>A c.*900G>A (n.*900G>A) n.4543G>A n.3144G>A c.3655G>A (p.Asp1219Asn) c.3703G>A (p.Asp1235Asn) c.3763G>A (p.Asp1255Asn) c.3313G>A (p.Asp1105Asn) c.1615G>A (p.Asp539Asn) c.1432G>A (p.Asp478Asn) c.3664G>A (p.Asp1222Asn) c.3616G>A (p.Asp1206Asn) c.3385G>A (p.Asp1129Asn) c.3286G>A (p.Asp1096Asn) c.2467G>A (p.Asp823Asn) n.4018G>A | gnomAD v4 COSMIC |
13 | g.51937581C>A | CA484024340 | ATP7B | c.*1448G>T (n.*1448G>T) c.*2542G>T (n.*2542G>T) c.3177G>T (p.Gly1059=) c.3798G>T (p.Gly1266=) c.3465G>T (p.Gly1155=) c.3546G>T (p.Gly1182=) n.1039G>T c.3564G>T (p.Gly1188=) n.3937G>T n.664G>T c.2733G>T (p.Gly911=) c.2508G>T (p.Gly836=) c.3603G>T (p.Gly1201=) c.1576G>T c.*899G>T (n.*899G>T) n.4542G>T n.3143G>T c.3654G>T (p.Gly1218=) c.3702G>T (p.Gly1234=) c.3762G>T (p.Gly1254=) c.3312G>T (p.Gly1104=) c.1614G>T (p.Gly538=) c.1431G>T (p.Gly477=) c.3663G>T (p.Gly1221=) c.3615G>T (p.Gly1205=) c.3384G>T (p.Gly1128=) c.3285G>T (p.Gly1095=) c.2466G>T (p.Gly822=) n.4017G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937581C= | CA2091554057 | ATP7B | c.*1448G= (n.*1448G=) c.*2542G= (n.*2542G=) c.3177G= (p.Gly1059=) c.3798G= (p.Gly1266=) c.3465G= (p.Gly1155=) c.3546G= (p.Gly1182=) n.1039G= c.3564G= (p.Gly1188=) n.3937G= n.664G= c.2733G= (p.Gly911=) c.2508G= (p.Gly836=) c.3603G= (p.Gly1201=) c.1576G= c.*899G= (n.*899G=) n.4542G= n.3143G= c.3654G= (p.Gly1218=) c.3702G= (p.Gly1234=) c.3762G= (p.Gly1254=) c.3312G= (p.Gly1104=) c.1614G= (p.Gly538=) c.1431G= (p.Gly477=) c.3663G= (p.Gly1221=) c.3615G= (p.Gly1205=) c.3384G= (p.Gly1128=) c.3285G= (p.Gly1095=) c.2466G= (p.Gly822=) n.4017G= | |
13 | g.51937581C>G | CA484024341 | ATP7B | c.*1448G>C (n.*1448G>C) c.*2542G>C (n.*2542G>C) c.3177G>C (p.Gly1059=) c.3798G>C (p.Gly1266=) c.3465G>C (p.Gly1155=) c.3546G>C (p.Gly1182=) n.1039G>C c.3564G>C (p.Gly1188=) n.3937G>C n.664G>C c.2733G>C (p.Gly911=) c.2508G>C (p.Gly836=) c.3603G>C (p.Gly1201=) c.1576G>C c.*899G>C (n.*899G>C) n.4542G>C n.3143G>C c.3654G>C (p.Gly1218=) c.3702G>C (p.Gly1234=) c.3762G>C (p.Gly1254=) c.3312G>C (p.Gly1104=) c.1614G>C (p.Gly538=) c.1431G>C (p.Gly477=) c.3663G>C (p.Gly1221=) c.3615G>C (p.Gly1205=) c.3384G>C (p.Gly1128=) c.3285G>C (p.Gly1095=) c.2466G>C (p.Gly822=) n.4017G>C | |
13 | g.51937581C>T | CA250073695 | ATP7B | c.*1448G>A (n.*1448G>A) c.*2542G>A (n.*2542G>A) c.3177G>A (p.Gly1059=) c.3798G>A (p.Gly1266=) c.3465G>A (p.Gly1155=) c.3546G>A (p.Gly1182=) n.1039G>A c.3564G>A (p.Gly1188=) n.3937G>A n.664G>A c.2733G>A (p.Gly911=) c.2508G>A (p.Gly836=) c.3603G>A (p.Gly1201=) c.1576G>A c.*899G>A (n.*899G>A) n.4542G>A n.3143G>A c.3654G>A (p.Gly1218=) c.3702G>A (p.Gly1234=) c.3762G>A (p.Gly1254=) c.3312G>A (p.Gly1104=) c.1614G>A (p.Gly538=) c.1431G>A (p.Gly477=) c.3663G>A (p.Gly1221=) c.3615G>A (p.Gly1205=) c.3384G>A (p.Gly1128=) c.3285G>A (p.Gly1095=) c.2466G>A (p.Gly822=) n.4017G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937582C>A | CA388022019 | ATP7B | c.*1447G>T (n.*1447G>T) c.*2541G>T (n.*2541G>T) c.3176G>T (p.Gly1059Val) c.3797G>T (p.Gly1266Val) c.3464G>T (p.Gly1155Val) c.3545G>T (p.Gly1182Val) n.1038G>T c.3563G>T (p.Gly1188Val) n.3936G>T n.663G>T c.2732G>T (p.Gly911Val) c.2507G>T (p.Gly836Val) c.3602G>T (p.Gly1201Val) c.1575G>T c.*898G>T (n.*898G>T) n.4541G>T n.3142G>T c.3653G>T (p.Gly1218Val) c.3701G>T (p.Gly1234Val) c.3761G>T (p.Gly1254Val) c.3311G>T (p.Gly1104Val) c.1613G>T (p.Gly538Val) c.1430G>T (p.Gly477Val) c.3662G>T (p.Gly1221Val) c.3614G>T (p.Gly1205Val) c.3383G>T (p.Gly1128Val) c.3284G>T (p.Gly1095Val) c.2465G>T (p.Gly822Val) n.4016G>T | |
13 | g.51937582C= | CA2091554066 | ATP7B | c.*1447G= (n.*1447G=) c.*2541G= (n.*2541G=) c.3176G= (p.Gly1059=) c.3797G= (p.Gly1266=) c.3464G= (p.Gly1155=) c.3545G= (p.Gly1182=) n.1038G= c.3563G= (p.Gly1188=) n.3936G= n.663G= c.2732G= (p.Gly911=) c.2507G= (p.Gly836=) c.3602G= (p.Gly1201=) c.1575G= c.*898G= (n.*898G=) n.4541G= n.3142G= c.3653G= (p.Gly1218=) c.3701G= (p.Gly1234=) c.3761G= (p.Gly1254=) c.3311G= (p.Gly1104=) c.1613G= (p.Gly538=) c.1430G= (p.Gly477=) c.3662G= (p.Gly1221=) c.3614G= (p.Gly1205=) c.3383G= (p.Gly1128=) c.3284G= (p.Gly1095=) c.2465G= (p.Gly822=) n.4016G= | |
13 | g.51937582C>G | CA388022022 | ATP7B | c.*1447G>C (n.*1447G>C) c.*2541G>C (n.*2541G>C) c.3176G>C (p.Gly1059Ala) c.3797G>C (p.Gly1266Ala) c.3464G>C (p.Gly1155Ala) c.3545G>C (p.Gly1182Ala) n.1038G>C c.3563G>C (p.Gly1188Ala) n.3936G>C n.663G>C c.2732G>C (p.Gly911Ala) c.2507G>C (p.Gly836Ala) c.3602G>C (p.Gly1201Ala) c.1575G>C c.*898G>C (n.*898G>C) n.4541G>C n.3142G>C c.3653G>C (p.Gly1218Ala) c.3701G>C (p.Gly1234Ala) c.3761G>C (p.Gly1254Ala) c.3311G>C (p.Gly1104Ala) c.1613G>C (p.Gly538Ala) c.1430G>C (p.Gly477Ala) c.3662G>C (p.Gly1221Ala) c.3614G>C (p.Gly1205Ala) c.3383G>C (p.Gly1128Ala) c.3284G>C (p.Gly1095Ala) c.2465G>C (p.Gly822Ala) n.4016G>C | |
13 | g.51937582C>T | CA388022024 | ATP7B | c.*1447G>A (n.*1447G>A) c.*2541G>A (n.*2541G>A) c.3176G>A (p.Gly1059Glu) c.3797G>A (p.Gly1266Glu) c.3464G>A (p.Gly1155Glu) c.3545G>A (p.Gly1182Glu) n.1038G>A c.3563G>A (p.Gly1188Glu) n.3936G>A n.663G>A c.2732G>A (p.Gly911Glu) c.2507G>A (p.Gly836Glu) c.3602G>A (p.Gly1201Glu) c.1575G>A c.*898G>A (n.*898G>A) n.4541G>A n.3142G>A c.3653G>A (p.Gly1218Glu) c.3701G>A (p.Gly1234Glu) c.3761G>A (p.Gly1254Glu) c.3311G>A (p.Gly1104Glu) c.1613G>A (p.Gly538Glu) c.1430G>A (p.Gly477Glu) c.3662G>A (p.Gly1221Glu) c.3614G>A (p.Gly1205Glu) c.3383G>A (p.Gly1128Glu) c.3284G>A (p.Gly1095Glu) c.2465G>A (p.Gly822Glu) n.4016G>A | ClinVar dbSNP COSMIC |
13 | g.51937584_51937587dup | CA2695218759 | ATP7B | c.*1444_*1447dup (n.*1444_*1447dup) c.*2538_*2541dup (n.*2538_*2541dup) c.3173_3176dup (p.Asp1060GlyfsTer6) c.3794_3797dup (p.Asp1267GlyfsTer6) c.3461_3464dup (p.Asp1156GlyfsTer6) c.3542_3545dup (p.Asp1183GlyfsTer6) n.1035_1038dup c.3560_3563dup (p.Asp1189GlyfsTer6) n.3933_3936dup n.660_663dup c.2729_2732dup (p.Asp912GlyfsTer6) c.2504_2507dup (p.Asp837GlyfsTer6) c.3599_3602dup (p.Asp1202GlyfsTer6) c.1572_1575dup c.*895_*898dup (n.*895_*898dup) n.4538_4541dup n.3139_3142dup c.3650_3653dup (p.Asp1219GlyfsTer6) c.3698_3701dup (p.Asp1235GlyfsTer6) c.3758_3761dup (p.Asp1255GlyfsTer6) c.3308_3311dup (p.Asp1105GlyfsTer6) c.1610_1613dup (p.Asp539GlyfsTer6) c.1427_1430dup (p.Asp478GlyfsTer6) c.3659_3662dup (p.Asp1222GlyfsTer6) c.3611_3614dup (p.Asp1206GlyfsTer6) c.3380_3383dup (p.Asp1129GlyfsTer6) c.3281_3284dup (p.Asp1096GlyfsTer6) c.2462_2465dup (p.Asp823GlyfsTer6) n.4013_4016dup | |
13 | g.51937583C>A | CA388022026 | ATP7B | c.*1446G>T (n.*1446G>T) c.*2540G>T (n.*2540G>T) c.3175G>T (p.Gly1059Trp) c.3796G>T (p.Gly1266Trp) c.3463G>T (p.Gly1155Trp) c.3544G>T (p.Gly1182Trp) n.1037G>T c.3562G>T (p.Gly1188Trp) n.3935G>T n.662G>T c.2731G>T (p.Gly911Trp) c.2506G>T (p.Gly836Trp) c.3601G>T (p.Gly1201Trp) c.1574G>T c.*897G>T (n.*897G>T) n.4540G>T n.3141G>T c.3652G>T (p.Gly1218Trp) c.3700G>T (p.Gly1234Trp) c.3760G>T (p.Gly1254Trp) c.3310G>T (p.Gly1104Trp) c.1612G>T (p.Gly538Trp) c.1429G>T (p.Gly477Trp) c.3661G>T (p.Gly1221Trp) c.3613G>T (p.Gly1205Trp) c.3382G>T (p.Gly1128Trp) c.3283G>T (p.Gly1095Trp) c.2464G>T (p.Gly822Trp) n.4015G>T | dbSNP |
13 | g.51937583C= | CA2091554101 | ATP7B | c.*1446G= (n.*1446G=) c.*2540G= (n.*2540G=) c.3175G= (p.Gly1059=) c.3796G= (p.Gly1266=) c.3463G= (p.Gly1155=) c.3544G= (p.Gly1182=) n.1037G= c.3562G= (p.Gly1188=) n.3935G= n.662G= c.2731G= (p.Gly911=) c.2506G= (p.Gly836=) c.3601G= (p.Gly1201=) c.1574G= c.*897G= (n.*897G=) n.4540G= n.3141G= c.3652G= (p.Gly1218=) c.3700G= (p.Gly1234=) c.3760G= (p.Gly1254=) c.3310G= (p.Gly1104=) c.1612G= (p.Gly538=) c.1429G= (p.Gly477=) c.3661G= (p.Gly1221=) c.3613G= (p.Gly1205=) c.3382G= (p.Gly1128=) c.3283G= (p.Gly1095=) c.2464G= (p.Gly822=) n.4015G= | |
13 | g.51937583C>G | CA388022028 | ATP7B | c.*1446G>C (n.*1446G>C) c.*2540G>C (n.*2540G>C) c.3175G>C (p.Gly1059Arg) c.3796G>C (p.Gly1266Arg) c.3463G>C (p.Gly1155Arg) c.3544G>C (p.Gly1182Arg) n.1037G>C c.3562G>C (p.Gly1188Arg) n.3935G>C n.662G>C c.2731G>C (p.Gly911Arg) c.2506G>C (p.Gly836Arg) c.3601G>C (p.Gly1201Arg) c.1574G>C c.*897G>C (n.*897G>C) n.4540G>C n.3141G>C c.3652G>C (p.Gly1218Arg) c.3700G>C (p.Gly1234Arg) c.3760G>C (p.Gly1254Arg) c.3310G>C (p.Gly1104Arg) c.1612G>C (p.Gly538Arg) c.1429G>C (p.Gly477Arg) c.3661G>C (p.Gly1221Arg) c.3613G>C (p.Gly1205Arg) c.3382G>C (p.Gly1128Arg) c.3283G>C (p.Gly1095Arg) c.2464G>C (p.Gly822Arg) n.4015G>C | |
13 | g.51937583C>T | CA252890 | ATP7B | c.*1446G>A (n.*1446G>A) c.*2540G>A (n.*2540G>A) c.3175G>A (p.Gly1059Arg) c.3796G>A (p.Gly1266Arg) c.3463G>A (p.Gly1155Arg) c.3544G>A (p.Gly1182Arg) n.1037G>A c.3562G>A (p.Gly1188Arg) n.3935G>A n.662G>A c.2731G>A (p.Gly911Arg) c.2506G>A (p.Gly836Arg) c.3601G>A (p.Gly1201Arg) c.1574G>A c.*897G>A (n.*897G>A) n.4540G>A n.3141G>A c.3652G>A (p.Gly1218Arg) c.3700G>A (p.Gly1234Arg) c.3760G>A (p.Gly1254Arg) c.3310G>A (p.Gly1104Arg) c.1612G>A (p.Gly538Arg) c.1429G>A (p.Gly477Arg) c.3661G>A (p.Gly1221Arg) c.3613G>A (p.Gly1205Arg) c.3382G>A (p.Gly1128Arg) c.3283G>A (p.Gly1095Arg) c.2464G>A (p.Gly822Arg) n.4015G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937584C>A | CA484024342 | ATP7B | c.*1445G>T (n.*1445G>T) c.*2539G>T (n.*2539G>T) c.3174G>T (p.Val1058=) c.3795G>T (p.Val1265=) c.3462G>T (p.Val1154=) c.3543G>T (p.Val1181=) n.1036G>T c.3561G>T (p.Val1187=) n.3934G>T n.661G>T c.2730G>T (p.Val910=) c.2505G>T (p.Val835=) c.3600G>T (p.Val1200=) c.1573G>T c.*896G>T (n.*896G>T) n.4539G>T n.3140G>T c.3651G>T (p.Val1217=) c.3699G>T (p.Val1233=) c.3759G>T (p.Val1253=) c.3309G>T (p.Val1103=) c.1611G>T (p.Val537=) c.1428G>T (p.Val476=) c.3660G>T (p.Val1220=) c.3612G>T (p.Val1204=) c.3381G>T (p.Val1127=) c.3282G>T (p.Val1094=) c.2463G>T (p.Val821=) n.4014G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51937584C= | CA2091554105 | ATP7B | c.*1445G= (n.*1445G=) c.*2539G= (n.*2539G=) c.3174G= (p.Val1058=) c.3795G= (p.Val1265=) c.3462G= (p.Val1154=) c.3543G= (p.Val1181=) n.1036G= c.3561G= (p.Val1187=) n.3934G= n.661G= c.2730G= (p.Val910=) c.2505G= (p.Val835=) c.3600G= (p.Val1200=) c.1573G= c.*896G= (n.*896G=) n.4539G= n.3140G= c.3651G= (p.Val1217=) c.3699G= (p.Val1233=) c.3759G= (p.Val1253=) c.3309G= (p.Val1103=) c.1611G= (p.Val537=) c.1428G= (p.Val476=) c.3660G= (p.Val1220=) c.3612G= (p.Val1204=) c.3381G= (p.Val1127=) c.3282G= (p.Val1094=) c.2463G= (p.Val821=) n.4014G= | |
13 | g.51937584C>G | CA484024343 | ATP7B | c.*1445G>C (n.*1445G>C) c.*2539G>C (n.*2539G>C) c.3174G>C (p.Val1058=) c.3795G>C (p.Val1265=) c.3462G>C (p.Val1154=) c.3543G>C (p.Val1181=) n.1036G>C c.3561G>C (p.Val1187=) n.3934G>C n.661G>C c.2730G>C (p.Val910=) c.2505G>C (p.Val835=) c.3600G>C (p.Val1200=) c.1573G>C c.*896G>C (n.*896G>C) n.4539G>C n.3140G>C c.3651G>C (p.Val1217=) c.3699G>C (p.Val1233=) c.3759G>C (p.Val1253=) c.3309G>C (p.Val1103=) c.1611G>C (p.Val537=) c.1428G>C (p.Val476=) c.3660G>C (p.Val1220=) c.3612G>C (p.Val1204=) c.3381G>C (p.Val1127=) c.3282G>C (p.Val1094=) c.2463G>C (p.Val821=) n.4014G>C | ClinVar |
13 | g.51937584C>T | CA484024344 | ATP7B | c.*1445G>A (n.*1445G>A) c.*2539G>A (n.*2539G>A) c.3174G>A (p.Val1058=) c.3795G>A (p.Val1265=) c.3462G>A (p.Val1154=) c.3543G>A (p.Val1181=) n.1036G>A c.3561G>A (p.Val1187=) n.3934G>A n.661G>A c.2730G>A (p.Val910=) c.2505G>A (p.Val835=) c.3600G>A (p.Val1200=) c.1573G>A c.*896G>A (n.*896G>A) n.4539G>A n.3140G>A c.3651G>A (p.Val1217=) c.3699G>A (p.Val1233=) c.3759G>A (p.Val1253=) c.3309G>A (p.Val1103=) c.1611G>A (p.Val537=) c.1428G>A (p.Val476=) c.3660G>A (p.Val1220=) c.3612G>A (p.Val1204=) c.3381G>A (p.Val1127=) c.3282G>A (p.Val1094=) c.2463G>A (p.Val821=) n.4014G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51937585A>C | CA388022033 | ATP7B | c.*1444T>G (n.*1444T>G) c.*2538T>G (n.*2538T>G) c.3173T>G (p.Val1058Gly) c.3794T>G (p.Val1265Gly) c.3461T>G (p.Val1154Gly) c.3542T>G (p.Val1181Gly) n.1035T>G c.3560T>G (p.Val1187Gly) n.3933T>G n.660T>G c.2729T>G (p.Val910Gly) c.2504T>G (p.Val835Gly) c.3599T>G (p.Val1200Gly) c.1572T>G c.*895T>G (n.*895T>G) n.4538T>G n.3139T>G c.3650T>G (p.Val1217Gly) c.3698T>G (p.Val1233Gly) c.3758T>G (p.Val1253Gly) c.3308T>G (p.Val1103Gly) c.1610T>G (p.Val537Gly) c.1427T>G (p.Val476Gly) c.3659T>G (p.Val1220Gly) c.3611T>G (p.Val1204Gly) c.3380T>G (p.Val1127Gly) c.3281T>G (p.Val1094Gly) c.2462T>G (p.Val821Gly) n.4013T>G | |
13 | g.51937585A>G | CA388022035 | ATP7B | c.*1444T>C (n.*1444T>C) c.*2538T>C (n.*2538T>C) c.3173T>C (p.Val1058Ala) c.3794T>C (p.Val1265Ala) c.3461T>C (p.Val1154Ala) c.3542T>C (p.Val1181Ala) n.1035T>C c.3560T>C (p.Val1187Ala) n.3933T>C n.660T>C c.2729T>C (p.Val910Ala) c.2504T>C (p.Val835Ala) c.3599T>C (p.Val1200Ala) c.1572T>C c.*895T>C (n.*895T>C) n.4538T>C n.3139T>C c.3650T>C (p.Val1217Ala) c.3698T>C (p.Val1233Ala) c.3758T>C (p.Val1253Ala) c.3308T>C (p.Val1103Ala) c.1610T>C (p.Val537Ala) c.1427T>C (p.Val476Ala) c.3659T>C (p.Val1220Ala) c.3611T>C (p.Val1204Ala) c.3380T>C (p.Val1127Ala) c.3281T>C (p.Val1094Ala) c.2462T>C (p.Val821Ala) n.4013T>C | |
13 | g.51937585A>T | CA388022042 | ATP7B | c.*1444T>A (n.*1444T>A) c.*2538T>A (n.*2538T>A) c.3173T>A (p.Val1058Glu) c.3794T>A (p.Val1265Glu) c.3461T>A (p.Val1154Glu) c.3542T>A (p.Val1181Glu) n.1035T>A c.3560T>A (p.Val1187Glu) n.3933T>A n.660T>A c.2729T>A (p.Val910Glu) c.2504T>A (p.Val835Glu) c.3599T>A (p.Val1200Glu) c.1572T>A c.*895T>A (n.*895T>A) n.4538T>A n.3139T>A c.3650T>A (p.Val1217Glu) c.3698T>A (p.Val1233Glu) c.3758T>A (p.Val1253Glu) c.3308T>A (p.Val1103Glu) c.1610T>A (p.Val537Glu) c.1427T>A (p.Val476Glu) c.3659T>A (p.Val1220Glu) c.3611T>A (p.Val1204Glu) c.3380T>A (p.Val1127Glu) c.3281T>A (p.Val1094Glu) c.2462T>A (p.Val821Glu) n.4013T>A | |
13 | g.51937586C>A | CA388022049 | ATP7B | c.*1443G>T (n.*1443G>T) c.*2537G>T (n.*2537G>T) c.3172G>T (p.Val1058Leu) c.3793G>T (p.Val1265Leu) c.3460G>T (p.Val1154Leu) c.3541G>T (p.Val1181Leu) n.1034G>T c.3559G>T (p.Val1187Leu) n.3932G>T n.659G>T c.2728G>T (p.Val910Leu) c.2503G>T (p.Val835Leu) c.3598G>T (p.Val1200Leu) c.1571G>T c.*894G>T (n.*894G>T) n.4537G>T n.3138G>T c.3649G>T (p.Val1217Leu) c.3697G>T (p.Val1233Leu) c.3757G>T (p.Val1253Leu) c.3307G>T (p.Val1103Leu) c.1609G>T (p.Val537Leu) c.1426G>T (p.Val476Leu) c.3658G>T (p.Val1220Leu) c.3610G>T (p.Val1204Leu) c.3379G>T (p.Val1127Leu) c.3280G>T (p.Val1094Leu) c.2461G>T (p.Val821Leu) n.4012G>T | dbSNP |
13 | g.51937586C= | CA2091554106 | ATP7B | c.*1443G= (n.*1443G=) c.*2537G= (n.*2537G=) c.3172G= (p.Val1058=) c.3793G= (p.Val1265=) c.3460G= (p.Val1154=) c.3541G= (p.Val1181=) n.1034G= c.3559G= (p.Val1187=) n.3932G= n.659G= c.2728G= (p.Val910=) c.2503G= (p.Val835=) c.3598G= (p.Val1200=) c.1571G= c.*894G= (n.*894G=) n.4537G= n.3138G= c.3649G= (p.Val1217=) c.3697G= (p.Val1233=) c.3757G= (p.Val1253=) c.3307G= (p.Val1103=) c.1609G= (p.Val537=) c.1426G= (p.Val476=) c.3658G= (p.Val1220=) c.3610G= (p.Val1204=) c.3379G= (p.Val1127=) c.3280G= (p.Val1094=) c.2461G= (p.Val821=) n.4012G= | |
13 | g.51937586C>G | CA388022044 | ATP7B | c.*1443G>C (n.*1443G>C) c.*2537G>C (n.*2537G>C) c.3172G>C (p.Val1058Leu) c.3793G>C (p.Val1265Leu) c.3460G>C (p.Val1154Leu) c.3541G>C (p.Val1181Leu) n.1034G>C c.3559G>C (p.Val1187Leu) n.3932G>C n.659G>C c.2728G>C (p.Val910Leu) c.2503G>C (p.Val835Leu) c.3598G>C (p.Val1200Leu) c.1571G>C c.*894G>C (n.*894G>C) n.4537G>C n.3138G>C c.3649G>C (p.Val1217Leu) c.3697G>C (p.Val1233Leu) c.3757G>C (p.Val1253Leu) c.3307G>C (p.Val1103Leu) c.1609G>C (p.Val537Leu) c.1426G>C (p.Val476Leu) c.3658G>C (p.Val1220Leu) c.3610G>C (p.Val1204Leu) c.3379G>C (p.Val1127Leu) c.3280G>C (p.Val1094Leu) c.2461G>C (p.Val821Leu) n.4012G>C | |
13 | g.51937586C>T | CA388022048 | ATP7B | c.*1443G>A (n.*1443G>A) c.*2537G>A (n.*2537G>A) c.3172G>A (p.Val1058Met) c.3793G>A (p.Val1265Met) c.3460G>A (p.Val1154Met) c.3541G>A (p.Val1181Met) n.1034G>A c.3559G>A (p.Val1187Met) n.3932G>A n.659G>A c.2728G>A (p.Val910Met) c.2503G>A (p.Val835Met) c.3598G>A (p.Val1200Met) c.1571G>A c.*894G>A (n.*894G>A) n.4537G>A n.3138G>A c.3649G>A (p.Val1217Met) c.3697G>A (p.Val1233Met) c.3757G>A (p.Val1253Met) c.3307G>A (p.Val1103Met) c.1609G>A (p.Val537Met) c.1426G>A (p.Val476Met) c.3658G>A (p.Val1220Met) c.3610G>A (p.Val1204Met) c.3379G>A (p.Val1127Met) c.3280G>A (p.Val1094Met) c.2461G>A (p.Val821Met) n.4012G>A | |
13 | g.51937587C>A | CA388022050 | ATP7B | c.*1442G>T (n.*1442G>T) c.*2536G>T (n.*2536G>T) c.3171G>T (p.Met1057Ile) c.3792G>T (p.Met1264Ile) c.3459G>T (p.Met1153Ile) c.3540G>T (p.Met1180Ile) n.1033G>T c.3558G>T (p.Met1186Ile) n.3931G>T n.658G>T c.2727G>T (p.Met909Ile) c.2502G>T (p.Met834Ile) c.3597G>T (p.Met1199Ile) c.1570G>T c.*893G>T (n.*893G>T) n.4536G>T n.3137G>T c.3648G>T (p.Met1216Ile) c.3696G>T (p.Met1232Ile) c.3756G>T (p.Met1252Ile) c.3306G>T (p.Met1102Ile) c.1608G>T (p.Met536Ile) c.1425G>T (p.Met475Ile) c.3657G>T (p.Met1219Ile) c.3609G>T (p.Met1203Ile) c.3378G>T (p.Met1126Ile) c.3279G>T (p.Met1093Ile) c.2460G>T (p.Met820Ile) n.4011G>T | |
13 | g.51937587C>G | CA388022053 | ATP7B | c.*1442G>C (n.*1442G>C) c.*2536G>C (n.*2536G>C) c.3171G>C (p.Met1057Ile) c.3792G>C (p.Met1264Ile) c.3459G>C (p.Met1153Ile) c.3540G>C (p.Met1180Ile) n.1033G>C c.3558G>C (p.Met1186Ile) n.3931G>C n.658G>C c.2727G>C (p.Met909Ile) c.2502G>C (p.Met834Ile) c.3597G>C (p.Met1199Ile) c.1570G>C c.*893G>C (n.*893G>C) n.4536G>C n.3137G>C c.3648G>C (p.Met1216Ile) c.3696G>C (p.Met1232Ile) c.3756G>C (p.Met1252Ile) c.3306G>C (p.Met1102Ile) c.1608G>C (p.Met536Ile) c.1425G>C (p.Met475Ile) c.3657G>C (p.Met1219Ile) c.3609G>C (p.Met1203Ile) c.3378G>C (p.Met1126Ile) c.3279G>C (p.Met1093Ile) c.2460G>C (p.Met820Ile) n.4011G>C | |
13 | g.51937587C>T | CA388022054 | ATP7B | c.*1442G>A (n.*1442G>A) c.*2536G>A (n.*2536G>A) c.3171G>A (p.Met1057Ile) c.3792G>A (p.Met1264Ile) c.3459G>A (p.Met1153Ile) c.3540G>A (p.Met1180Ile) n.1033G>A c.3558G>A (p.Met1186Ile) n.3931G>A n.658G>A c.2727G>A (p.Met909Ile) c.2502G>A (p.Met834Ile) c.3597G>A (p.Met1199Ile) c.1570G>A c.*893G>A (n.*893G>A) n.4536G>A n.3137G>A c.3648G>A (p.Met1216Ile) c.3696G>A (p.Met1232Ile) c.3756G>A (p.Met1252Ile) c.3306G>A (p.Met1102Ile) c.1608G>A (p.Met536Ile) c.1425G>A (p.Met475Ile) c.3657G>A (p.Met1219Ile) c.3609G>A (p.Met1203Ile) c.3378G>A (p.Met1126Ile) c.3279G>A (p.Met1093Ile) c.2460G>A (p.Met820Ile) n.4011G>A | |
13 | g.51937588A>C | CA388022056 | ATP7B | c.*1441T>G (n.*1441T>G) c.*2535T>G (n.*2535T>G) c.3170T>G (p.Met1057Arg) c.3791T>G (p.Met1264Arg) c.3458T>G (p.Met1153Arg) c.3539T>G (p.Met1180Arg) n.1032T>G c.3557T>G (p.Met1186Arg) n.3930T>G n.657T>G c.2726T>G (p.Met909Arg) c.2501T>G (p.Met834Arg) c.3596T>G (p.Met1199Arg) c.1569T>G c.*892T>G (n.*892T>G) n.4535T>G n.3136T>G c.3647T>G (p.Met1216Arg) c.3695T>G (p.Met1232Arg) c.3755T>G (p.Met1252Arg) c.3305T>G (p.Met1102Arg) c.1607T>G (p.Met536Arg) c.1424T>G (p.Met475Arg) c.3656T>G (p.Met1219Arg) c.3608T>G (p.Met1203Arg) c.3377T>G (p.Met1126Arg) c.3278T>G (p.Met1093Arg) c.2459T>G (p.Met820Arg) n.4010T>G | |
13 | g.51937588A>G | CA388022057 | ATP7B | c.*1441T>C (n.*1441T>C) c.*2535T>C (n.*2535T>C) c.3170T>C (p.Met1057Thr) c.3791T>C (p.Met1264Thr) c.3458T>C (p.Met1153Thr) c.3539T>C (p.Met1180Thr) n.1032T>C c.3557T>C (p.Met1186Thr) n.3930T>C n.657T>C c.2726T>C (p.Met909Thr) c.2501T>C (p.Met834Thr) c.3596T>C (p.Met1199Thr) c.1569T>C c.*892T>C (n.*892T>C) n.4535T>C n.3136T>C c.3647T>C (p.Met1216Thr) c.3695T>C (p.Met1232Thr) c.3755T>C (p.Met1252Thr) c.3305T>C (p.Met1102Thr) c.1607T>C (p.Met536Thr) c.1424T>C (p.Met475Thr) c.3656T>C (p.Met1219Thr) c.3608T>C (p.Met1203Thr) c.3377T>C (p.Met1126Thr) c.3278T>C (p.Met1093Thr) c.2459T>C (p.Met820Thr) n.4010T>C | |
13 | g.51937588A>T | CA388022059 | ATP7B | c.*1441T>A (n.*1441T>A) c.*2535T>A (n.*2535T>A) c.3170T>A (p.Met1057Lys) c.3791T>A (p.Met1264Lys) c.3458T>A (p.Met1153Lys) c.3539T>A (p.Met1180Lys) n.1032T>A c.3557T>A (p.Met1186Lys) n.3930T>A n.657T>A c.2726T>A (p.Met909Lys) c.2501T>A (p.Met834Lys) c.3596T>A (p.Met1199Lys) c.1569T>A c.*892T>A (n.*892T>A) n.4535T>A n.3136T>A c.3647T>A (p.Met1216Lys) c.3695T>A (p.Met1232Lys) c.3755T>A (p.Met1252Lys) c.3305T>A (p.Met1102Lys) c.1607T>A (p.Met536Lys) c.1424T>A (p.Met475Lys) c.3656T>A (p.Met1219Lys) c.3608T>A (p.Met1203Lys) c.3377T>A (p.Met1126Lys) c.3278T>A (p.Met1093Lys) c.2459T>A (p.Met820Lys) n.4010T>A | |
13 | g.51937588_51937597del | CA2580087712 | ATP7B | c.*1432_*1441del (n.*1432_*1441del) c.*2526_*2535del (n.*2526_*2535del) c.3161_3170del (p.Lys1054ArgfsTer?) c.3782_3791del (p.Lys1261ArgfsTer?) c.3449_3458del (p.Lys1150ArgfsTer?) c.3530_3539del (p.Lys1177ArgfsTer?) n.1023_1032del c.3548_3557del (p.Lys1183ArgfsTer?) n.3921_3930del n.648_657del c.2717_2726del (p.Lys906ArgfsTer?) c.2492_2501del (p.Lys831ArgfsTer?) c.3587_3596del (p.Lys1196ArgfsTer?) c.1560_1569del c.*883_*892del (n.*883_*892del) n.4526_4535del n.3127_3136del c.3638_3647del (p.Lys1213ArgfsTer?) c.3686_3695del (p.Lys1229ArgfsTer?) c.3746_3755del (p.Lys1249ArgfsTer?) c.3296_3305del (p.Lys1099ArgfsTer?) c.1598_1607del (p.Lys533ArgfsTer?) c.1415_1424del (p.Lys472ArgfsTer?) c.3647_3656del (p.Lys1216ArgfsTer?) c.3599_3608del (p.Lys1200ArgfsTer?) c.3368_3377del (p.Lys1123ArgfsTer?) c.3269_3278del (p.Lys1090ArgfsTer?) c.2450_2459del (p.Lys817ArgfsTer?) n.4001_4010del | ClinVar |
13 | g.51937589T>A | CA388022062 | ATP7B | c.*1440A>T (n.*1440A>T) c.*2534A>T (n.*2534A>T) c.3169A>T (p.Met1057Leu) c.3790A>T (p.Met1264Leu) c.3457A>T (p.Met1153Leu) c.3538A>T (p.Met1180Leu) n.1031A>T c.3556A>T (p.Met1186Leu) n.3929A>T n.656A>T c.2725A>T (p.Met909Leu) c.2500A>T (p.Met834Leu) c.3595A>T (p.Met1199Leu) c.1568A>T c.*891A>T (n.*891A>T) n.4534A>T n.3135A>T c.3646A>T (p.Met1216Leu) c.3694A>T (p.Met1232Leu) c.3754A>T (p.Met1252Leu) c.3304A>T (p.Met1102Leu) c.1606A>T (p.Met536Leu) c.1423A>T (p.Met475Leu) c.3655A>T (p.Met1219Leu) c.3607A>T (p.Met1203Leu) c.3376A>T (p.Met1126Leu) c.3277A>T (p.Met1093Leu) c.2458A>T (p.Met820Leu) n.4009A>T | dbSNP |
13 | g.51937589T>C | CA388022065 | ATP7B | c.*1440A>G (n.*1440A>G) c.*2534A>G (n.*2534A>G) c.3169A>G (p.Met1057Val) c.3790A>G (p.Met1264Val) c.3457A>G (p.Met1153Val) c.3538A>G (p.Met1180Val) n.1031A>G c.3556A>G (p.Met1186Val) n.3929A>G n.656A>G c.2725A>G (p.Met909Val) c.2500A>G (p.Met834Val) c.3595A>G (p.Met1199Val) c.1568A>G c.*891A>G (n.*891A>G) n.4534A>G n.3135A>G c.3646A>G (p.Met1216Val) c.3694A>G (p.Met1232Val) c.3754A>G (p.Met1252Val) c.3304A>G (p.Met1102Val) c.1606A>G (p.Met536Val) c.1423A>G (p.Met475Val) c.3655A>G (p.Met1219Val) c.3607A>G (p.Met1203Val) c.3376A>G (p.Met1126Val) c.3277A>G (p.Met1093Val) c.2458A>G (p.Met820Val) n.4009A>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937589T>G | CA388022067 | ATP7B | c.*1440A>C (n.*1440A>C) c.*2534A>C (n.*2534A>C) c.3169A>C (p.Met1057Leu) c.3790A>C (p.Met1264Leu) c.3457A>C (p.Met1153Leu) c.3538A>C (p.Met1180Leu) n.1031A>C c.3556A>C (p.Met1186Leu) n.3929A>C n.656A>C c.2725A>C (p.Met909Leu) c.2500A>C (p.Met834Leu) c.3595A>C (p.Met1199Leu) c.1568A>C c.*891A>C (n.*891A>C) n.4534A>C n.3135A>C c.3646A>C (p.Met1216Leu) c.3694A>C (p.Met1232Leu) c.3754A>C (p.Met1252Leu) c.3304A>C (p.Met1102Leu) c.1606A>C (p.Met536Leu) c.1423A>C (p.Met475Leu) c.3655A>C (p.Met1219Leu) c.3607A>C (p.Met1203Leu) c.3376A>C (p.Met1126Leu) c.3277A>C (p.Met1093Leu) c.2458A>C (p.Met820Leu) n.4009A>C | |
13 | g.51937589T= | CA2091554110 | ATP7B | c.*1440A= (n.*1440A=) c.*2534A= (n.*2534A=) c.3169A= (p.Met1057=) c.3790A= (p.Met1264=) c.3457A= (p.Met1153=) c.3538A= (p.Met1180=) n.1031A= c.3556A= (p.Met1186=) n.3929A= n.656A= c.2725A= (p.Met909=) c.2500A= (p.Met834=) c.3595A= (p.Met1199=) c.1568A= c.*891A= (n.*891A=) n.4534A= n.3135A= c.3646A= (p.Met1216=) c.3694A= (p.Met1232=) c.3754A= (p.Met1252=) c.3304A= (p.Met1102=) c.1606A= (p.Met536=) c.1423A= (p.Met475=) c.3655A= (p.Met1219=) c.3607A= (p.Met1203=) c.3376A= (p.Met1126=) c.3277A= (p.Met1093=) c.2458A= (p.Met820=) n.4009A= | |
13 | g.51937590G>A | CA250073700 | ATP7B | c.*1439C>T (n.*1439C>T) c.*2533C>T (n.*2533C>T) c.3168C>T (p.Ala1056=) c.3789C>T (p.Ala1263=) c.3456C>T (p.Ala1152=) c.3537C>T (p.Ala1179=) n.1030C>T c.3555C>T (p.Ala1185=) n.3928C>T n.655C>T c.2724C>T (p.Ala908=) c.2499C>T (p.Ala833=) c.3594C>T (p.Ala1198=) c.1567C>T c.*890C>T (n.*890C>T) n.4533C>T n.3134C>T c.3645C>T (p.Ala1215=) c.3693C>T (p.Ala1231=) c.3753C>T (p.Ala1251=) c.3303C>T (p.Ala1101=) c.1605C>T (p.Ala535=) c.1422C>T (p.Ala474=) c.3654C>T (p.Ala1218=) c.3606C>T (p.Ala1202=) c.3375C>T (p.Ala1125=) c.3276C>T (p.Ala1092=) c.2457C>T (p.Ala819=) n.4008C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937590G>C | CA484024345 | ATP7B | c.*1439C>G (n.*1439C>G) c.*2533C>G (n.*2533C>G) c.3168C>G (p.Ala1056=) c.3789C>G (p.Ala1263=) c.3456C>G (p.Ala1152=) c.3537C>G (p.Ala1179=) n.1030C>G c.3555C>G (p.Ala1185=) n.3928C>G n.655C>G c.2724C>G (p.Ala908=) c.2499C>G (p.Ala833=) c.3594C>G (p.Ala1198=) c.1567C>G c.*890C>G (n.*890C>G) n.4533C>G n.3134C>G c.3645C>G (p.Ala1215=) c.3693C>G (p.Ala1231=) c.3753C>G (p.Ala1251=) c.3303C>G (p.Ala1101=) c.1605C>G (p.Ala535=) c.1422C>G (p.Ala474=) c.3654C>G (p.Ala1218=) c.3606C>G (p.Ala1202=) c.3375C>G (p.Ala1125=) c.3276C>G (p.Ala1092=) c.2457C>G (p.Ala819=) n.4008C>G | |
13 | g.51937590G= | CA2091554113 | ATP7B | c.*1439C= (n.*1439C=) c.*2533C= (n.*2533C=) c.3168C= (p.Ala1056=) c.3789C= (p.Ala1263=) c.3456C= (p.Ala1152=) c.3537C= (p.Ala1179=) n.1030C= c.3555C= (p.Ala1185=) n.3928C= n.655C= c.2724C= (p.Ala908=) c.2499C= (p.Ala833=) c.3594C= (p.Ala1198=) c.1567C= c.*890C= (n.*890C=) n.4533C= n.3134C= c.3645C= (p.Ala1215=) c.3693C= (p.Ala1231=) c.3753C= (p.Ala1251=) c.3303C= (p.Ala1101=) c.1605C= (p.Ala535=) c.1422C= (p.Ala474=) c.3654C= (p.Ala1218=) c.3606C= (p.Ala1202=) c.3375C= (p.Ala1125=) c.3276C= (p.Ala1092=) c.2457C= (p.Ala819=) n.4008C= | |
13 | g.51937590G>T | CA484024346 | ATP7B | c.*1439C>A (n.*1439C>A) c.*2533C>A (n.*2533C>A) c.3168C>A (p.Ala1056=) c.3789C>A (p.Ala1263=) c.3456C>A (p.Ala1152=) c.3537C>A (p.Ala1179=) n.1030C>A c.3555C>A (p.Ala1185=) n.3928C>A n.655C>A c.2724C>A (p.Ala908=) c.2499C>A (p.Ala833=) c.3594C>A (p.Ala1198=) c.1567C>A c.*890C>A (n.*890C>A) n.4533C>A n.3134C>A c.3645C>A (p.Ala1215=) c.3693C>A (p.Ala1231=) c.3753C>A (p.Ala1251=) c.3303C>A (p.Ala1101=) c.1605C>A (p.Ala535=) c.1422C>A (p.Ala474=) c.3654C>A (p.Ala1218=) c.3606C>A (p.Ala1202=) c.3375C>A (p.Ala1125=) c.3276C>A (p.Ala1092=) c.2457C>A (p.Ala819=) n.4008C>A | |
13 | g.51937591G>A | CA388022069 | ATP7B | c.*1438C>T (n.*1438C>T) c.*2532C>T (n.*2532C>T) c.3167C>T (p.Ala1056Val) c.3788C>T (p.Ala1263Val) c.3455C>T (p.Ala1152Val) c.3536C>T (p.Ala1179Val) n.1029C>T c.3554C>T (p.Ala1185Val) n.3927C>T n.654C>T c.2723C>T (p.Ala908Val) c.2498C>T (p.Ala833Val) c.3593C>T (p.Ala1198Val) c.1566C>T c.*889C>T (n.*889C>T) n.4532C>T n.3133C>T c.3644C>T (p.Ala1215Val) c.3692C>T (p.Ala1231Val) c.3752C>T (p.Ala1251Val) c.3302C>T (p.Ala1101Val) c.1604C>T (p.Ala535Val) c.1421C>T (p.Ala474Val) c.3653C>T (p.Ala1218Val) c.3605C>T (p.Ala1202Val) c.3374C>T (p.Ala1125Val) c.3275C>T (p.Ala1092Val) c.2456C>T (p.Ala819Val) n.4007C>T | |
13 | g.51937591G>C | CA388022070 | ATP7B | c.*1438C>G (n.*1438C>G) c.*2532C>G (n.*2532C>G) c.3167C>G (p.Ala1056Gly) c.3788C>G (p.Ala1263Gly) c.3455C>G (p.Ala1152Gly) c.3536C>G (p.Ala1179Gly) n.1029C>G c.3554C>G (p.Ala1185Gly) n.3927C>G n.654C>G c.2723C>G (p.Ala908Gly) c.2498C>G (p.Ala833Gly) c.3593C>G (p.Ala1198Gly) c.1566C>G c.*889C>G (n.*889C>G) n.4532C>G n.3133C>G c.3644C>G (p.Ala1215Gly) c.3692C>G (p.Ala1231Gly) c.3752C>G (p.Ala1251Gly) c.3302C>G (p.Ala1101Gly) c.1604C>G (p.Ala535Gly) c.1421C>G (p.Ala474Gly) c.3653C>G (p.Ala1218Gly) c.3605C>G (p.Ala1202Gly) c.3374C>G (p.Ala1125Gly) c.3275C>G (p.Ala1092Gly) c.2456C>G (p.Ala819Gly) n.4007C>G | ClinVar |
13 | g.51937591G>T | CA388022074 | ATP7B | c.*1438C>A (n.*1438C>A) c.*2532C>A (n.*2532C>A) c.3167C>A (p.Ala1056Asp) c.3788C>A (p.Ala1263Asp) c.3455C>A (p.Ala1152Asp) c.3536C>A (p.Ala1179Asp) n.1029C>A c.3554C>A (p.Ala1185Asp) n.3927C>A n.654C>A c.2723C>A (p.Ala908Asp) c.2498C>A (p.Ala833Asp) c.3593C>A (p.Ala1198Asp) c.1566C>A c.*889C>A (n.*889C>A) n.4532C>A n.3133C>A c.3644C>A (p.Ala1215Asp) c.3692C>A (p.Ala1231Asp) c.3752C>A (p.Ala1251Asp) c.3302C>A (p.Ala1101Asp) c.1604C>A (p.Ala535Asp) c.1421C>A (p.Ala474Asp) c.3653C>A (p.Ala1218Asp) c.3605C>A (p.Ala1202Asp) c.3374C>A (p.Ala1125Asp) c.3275C>A (p.Ala1092Asp) c.2456C>A (p.Ala819Asp) n.4007C>A | |
13 | g.51937591_51937592delinsGC | CA2091554114 | ATP7B | c.*1437_*1438delinsGC (n.*1437_*1438delinsGC) c.*2531_*2532delinsGC (n.*2531_*2532delinsGC) c.3166_3167delinsGC (p.Ala1056=) c.3787_3788delinsGC (p.Ala1263=) c.3454_3455delinsGC (p.Ala1152=) c.3535_3536delinsGC (p.Ala1179=) n.1028_1029delinsGC c.3553_3554delinsGC (p.Ala1185=) n.3926_3927delinsGC n.653_654delinsGC c.2722_2723delinsGC (p.Ala908=) c.2497_2498delinsGC (p.Ala833=) c.3592_3593delinsGC (p.Ala1198=) c.1565_1566delinsGC c.*888_*889delinsGC (n.*888_*889delinsGC) n.4531_4532delinsGC n.3132_3133delinsGC c.3643_3644delinsGC (p.Ala1215=) c.3691_3692delinsGC (p.Ala1231=) c.3751_3752delinsGC (p.Ala1251=) c.3301_3302delinsGC (p.Ala1101=) c.1603_1604delinsGC (p.Ala535=) c.1420_1421delinsGC (p.Ala474=) c.3652_3653delinsGC (p.Ala1218=) c.3604_3605delinsGC (p.Ala1202=) c.3373_3374delinsGC (p.Ala1125=) c.3274_3275delinsGC (p.Ala1092=) c.2455_2456delinsGC (p.Ala819=) n.4006_4007delinsGC | |
13 | g.51937592del | CA6988566 | ATP7B | c.*1437del (n.*1437del) c.*2531del (n.*2531del) c.3166del (p.Ala1056ProfsTer?) c.3787del (p.Ala1263ProfsTer?) c.3454del (p.Ala1152ProfsTer?) c.3535del (p.Ala1179ProfsTer?) n.1028del c.3553del (p.Ala1185ProfsTer?) n.3926del n.653del c.2722del (p.Ala908ProfsTer?) c.2497del (p.Ala833ProfsTer?) c.3592del (p.Ala1198ProfsTer?) c.1565del c.*888del (n.*888del) n.4531del n.3132del c.3643del (p.Ala1215ProfsTer?) c.3691del (p.Ala1231ProfsTer?) c.3751del (p.Ala1251ProfsTer?) c.3301del (p.Ala1101ProfsTer?) c.1603del (p.Ala535ProfsTer?) c.1420del (p.Ala474ProfsTer?) c.3652del (p.Ala1218ProfsTer?) c.3604del (p.Ala1202ProfsTer?) c.3373del (p.Ala1125ProfsTer?) c.3274del (p.Ala1092ProfsTer?) c.2455del (p.Ala819ProfsTer?) n.4006del | dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.51937592C>A | CA388022075 | ATP7B | c.*1437G>T (n.*1437G>T) c.*2531G>T (n.*2531G>T) c.3166G>T (p.Ala1056Ser) c.3787G>T (p.Ala1263Ser) c.3454G>T (p.Ala1152Ser) c.3535G>T (p.Ala1179Ser) n.1028G>T c.3553G>T (p.Ala1185Ser) n.3926G>T n.653G>T c.2722G>T (p.Ala908Ser) c.2497G>T (p.Ala833Ser) c.3592G>T (p.Ala1198Ser) c.1565G>T c.*888G>T (n.*888G>T) n.4531G>T n.3132G>T c.3643G>T (p.Ala1215Ser) c.3691G>T (p.Ala1231Ser) c.3751G>T (p.Ala1251Ser) c.3301G>T (p.Ala1101Ser) c.1603G>T (p.Ala535Ser) c.1420G>T (p.Ala474Ser) c.3652G>T (p.Ala1218Ser) c.3604G>T (p.Ala1202Ser) c.3373G>T (p.Ala1125Ser) c.3274G>T (p.Ala1092Ser) c.2455G>T (p.Ala819Ser) n.4006G>T | dbSNP |
13 | g.51937592C= | CA2091554115 | ATP7B | c.*1437G= (n.*1437G=) c.*2531G= (n.*2531G=) c.3166G= (p.Ala1056=) c.3787G= (p.Ala1263=) c.3454G= (p.Ala1152=) c.3535G= (p.Ala1179=) n.1028G= c.3553G= (p.Ala1185=) n.3926G= n.653G= c.2722G= (p.Ala908=) c.2497G= (p.Ala833=) c.3592G= (p.Ala1198=) c.1565G= c.*888G= (n.*888G=) n.4531G= n.3132G= c.3643G= (p.Ala1215=) c.3691G= (p.Ala1231=) c.3751G= (p.Ala1251=) c.3301G= (p.Ala1101=) c.1603G= (p.Ala535=) c.1420G= (p.Ala474=) c.3652G= (p.Ala1218=) c.3604G= (p.Ala1202=) c.3373G= (p.Ala1125=) c.3274G= (p.Ala1092=) c.2455G= (p.Ala819=) n.4006G= | |
13 | g.51937592C>G | CA388022076 | ATP7B | c.*1437G>C (n.*1437G>C) c.*2531G>C (n.*2531G>C) c.3166G>C (p.Ala1056Pro) c.3787G>C (p.Ala1263Pro) c.3454G>C (p.Ala1152Pro) c.3535G>C (p.Ala1179Pro) n.1028G>C c.3553G>C (p.Ala1185Pro) n.3926G>C n.653G>C c.2722G>C (p.Ala908Pro) c.2497G>C (p.Ala833Pro) c.3592G>C (p.Ala1198Pro) c.1565G>C c.*888G>C (n.*888G>C) n.4531G>C n.3132G>C c.3643G>C (p.Ala1215Pro) c.3691G>C (p.Ala1231Pro) c.3751G>C (p.Ala1251Pro) c.3301G>C (p.Ala1101Pro) c.1603G>C (p.Ala535Pro) c.1420G>C (p.Ala474Pro) c.3652G>C (p.Ala1218Pro) c.3604G>C (p.Ala1202Pro) c.3373G>C (p.Ala1125Pro) c.3274G>C (p.Ala1092Pro) c.2455G>C (p.Ala819Pro) n.4006G>C | |
13 | g.51937592C>T | CA6988567 | ATP7B | c.*1437G>A (n.*1437G>A) c.*2531G>A (n.*2531G>A) c.3166G>A (p.Ala1056Thr) c.3787G>A (p.Ala1263Thr) c.3454G>A (p.Ala1152Thr) c.3535G>A (p.Ala1179Thr) n.1028G>A c.3553G>A (p.Ala1185Thr) n.3926G>A n.653G>A c.2722G>A (p.Ala908Thr) c.2497G>A (p.Ala833Thr) c.3592G>A (p.Ala1198Thr) c.1565G>A c.*888G>A (n.*888G>A) n.4531G>A n.3132G>A c.3643G>A (p.Ala1215Thr) c.3691G>A (p.Ala1231Thr) c.3751G>A (p.Ala1251Thr) c.3301G>A (p.Ala1101Thr) c.1603G>A (p.Ala535Thr) c.1420G>A (p.Ala474Thr) c.3652G>A (p.Ala1218Thr) c.3604G>A (p.Ala1202Thr) c.3373G>A (p.Ala1125Thr) c.3274G>A (p.Ala1092Thr) c.2455G>A (p.Ala819Thr) n.4006G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937593G>A | CA6988568 | ATP7B | c.*1436C>T (n.*1436C>T) c.*2530C>T (n.*2530C>T) c.3165C>T (p.Val1055=) c.3786C>T (p.Val1262=) c.3453C>T (p.Val1151=) c.3534C>T (p.Val1178=) n.1027C>T c.3552C>T (p.Val1184=) n.3925C>T n.652C>T c.2721C>T (p.Val907=) c.2496C>T (p.Val832=) c.3591C>T (p.Val1197=) c.1564C>T c.*887C>T (n.*887C>T) n.4530C>T n.3131C>T c.3642C>T (p.Val1214=) c.3690C>T (p.Val1230=) c.3750C>T (p.Val1250=) c.3300C>T (p.Val1100=) c.1602C>T (p.Val534=) c.1419C>T (p.Val473=) c.3651C>T (p.Val1217=) c.3603C>T (p.Val1201=) c.3372C>T (p.Val1124=) c.3273C>T (p.Val1091=) c.2454C>T (p.Val818=) n.4005C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937593G>C | CA484024347 | ATP7B | c.*1436C>G (n.*1436C>G) c.*2530C>G (n.*2530C>G) c.3165C>G (p.Val1055=) c.3786C>G (p.Val1262=) c.3453C>G (p.Val1151=) c.3534C>G (p.Val1178=) n.1027C>G c.3552C>G (p.Val1184=) n.3925C>G n.652C>G c.2721C>G (p.Val907=) c.2496C>G (p.Val832=) c.3591C>G (p.Val1197=) c.1564C>G c.*887C>G (n.*887C>G) n.4530C>G n.3131C>G c.3642C>G (p.Val1214=) c.3690C>G (p.Val1230=) c.3750C>G (p.Val1250=) c.3300C>G (p.Val1100=) c.1602C>G (p.Val534=) c.1419C>G (p.Val473=) c.3651C>G (p.Val1217=) c.3603C>G (p.Val1201=) c.3372C>G (p.Val1124=) c.3273C>G (p.Val1091=) c.2454C>G (p.Val818=) n.4005C>G | |
13 | g.51937593G= | CA2091554116 | ATP7B | c.*1436C= (n.*1436C=) c.*2530C= (n.*2530C=) c.3165C= (p.Val1055=) c.3786C= (p.Val1262=) c.3453C= (p.Val1151=) c.3534C= (p.Val1178=) n.1027C= c.3552C= (p.Val1184=) n.3925C= n.652C= c.2721C= (p.Val907=) c.2496C= (p.Val832=) c.3591C= (p.Val1197=) c.1564C= c.*887C= (n.*887C=) n.4530C= n.3131C= c.3642C= (p.Val1214=) c.3690C= (p.Val1230=) c.3750C= (p.Val1250=) c.3300C= (p.Val1100=) c.1602C= (p.Val534=) c.1419C= (p.Val473=) c.3651C= (p.Val1217=) c.3603C= (p.Val1201=) c.3372C= (p.Val1124=) c.3273C= (p.Val1091=) c.2454C= (p.Val818=) n.4005C= | |
13 | g.51937593G>T | CA484024348 | ATP7B | c.*1436C>A (n.*1436C>A) c.*2530C>A (n.*2530C>A) c.3165C>A (p.Val1055=) c.3786C>A (p.Val1262=) c.3453C>A (p.Val1151=) c.3534C>A (p.Val1178=) n.1027C>A c.3552C>A (p.Val1184=) n.3925C>A n.652C>A c.2721C>A (p.Val907=) c.2496C>A (p.Val832=) c.3591C>A (p.Val1197=) c.1564C>A c.*887C>A (n.*887C>A) n.4530C>A n.3131C>A c.3642C>A (p.Val1214=) c.3690C>A (p.Val1230=) c.3750C>A (p.Val1250=) c.3300C>A (p.Val1100=) c.1602C>A (p.Val534=) c.1419C>A (p.Val473=) c.3651C>A (p.Val1217=) c.3603C>A (p.Val1201=) c.3372C>A (p.Val1124=) c.3273C>A (p.Val1091=) c.2454C>A (p.Val818=) n.4005C>A | |
13 | g.51937594A>C | CA388022081 | ATP7B | c.*1435T>G (n.*1435T>G) c.*2529T>G (n.*2529T>G) c.3164T>G (p.Val1055Gly) c.3785T>G (p.Val1262Gly) c.3452T>G (p.Val1151Gly) c.3533T>G (p.Val1178Gly) n.1026T>G c.3551T>G (p.Val1184Gly) n.3924T>G n.651T>G c.2720T>G (p.Val907Gly) c.2495T>G (p.Val832Gly) c.3590T>G (p.Val1197Gly) c.1563T>G c.*886T>G (n.*886T>G) n.4529T>G n.3130T>G c.3641T>G (p.Val1214Gly) c.3689T>G (p.Val1230Gly) c.3749T>G (p.Val1250Gly) c.3299T>G (p.Val1100Gly) c.1601T>G (p.Val534Gly) c.1418T>G (p.Val473Gly) c.3650T>G (p.Val1217Gly) c.3602T>G (p.Val1201Gly) c.3371T>G (p.Val1124Gly) c.3272T>G (p.Val1091Gly) c.2453T>G (p.Val818Gly) n.4004T>G | |
13 | g.51937594A>G | CA388022085 | ATP7B | c.*1435T>C (n.*1435T>C) c.*2529T>C (n.*2529T>C) c.3164T>C (p.Val1055Ala) c.3785T>C (p.Val1262Ala) c.3452T>C (p.Val1151Ala) c.3533T>C (p.Val1178Ala) n.1026T>C c.3551T>C (p.Val1184Ala) n.3924T>C n.651T>C c.2720T>C (p.Val907Ala) c.2495T>C (p.Val832Ala) c.3590T>C (p.Val1197Ala) c.1563T>C c.*886T>C (n.*886T>C) n.4529T>C n.3130T>C c.3641T>C (p.Val1214Ala) c.3689T>C (p.Val1230Ala) c.3749T>C (p.Val1250Ala) c.3299T>C (p.Val1100Ala) c.1601T>C (p.Val534Ala) c.1418T>C (p.Val473Ala) c.3650T>C (p.Val1217Ala) c.3602T>C (p.Val1201Ala) c.3371T>C (p.Val1124Ala) c.3272T>C (p.Val1091Ala) c.2453T>C (p.Val818Ala) n.4004T>C | |
13 | g.51937594A>T | CA388022083 | ATP7B | c.*1435T>A (n.*1435T>A) c.*2529T>A (n.*2529T>A) c.3164T>A (p.Val1055Asp) c.3785T>A (p.Val1262Asp) c.3452T>A (p.Val1151Asp) c.3533T>A (p.Val1178Asp) n.1026T>A c.3551T>A (p.Val1184Asp) n.3924T>A n.651T>A c.2720T>A (p.Val907Asp) c.2495T>A (p.Val832Asp) c.3590T>A (p.Val1197Asp) c.1563T>A c.*886T>A (n.*886T>A) n.4529T>A n.3130T>A c.3641T>A (p.Val1214Asp) c.3689T>A (p.Val1230Asp) c.3749T>A (p.Val1250Asp) c.3299T>A (p.Val1100Asp) c.1601T>A (p.Val534Asp) c.1418T>A (p.Val473Asp) c.3650T>A (p.Val1217Asp) c.3602T>A (p.Val1201Asp) c.3371T>A (p.Val1124Asp) c.3272T>A (p.Val1091Asp) c.2453T>A (p.Val818Asp) n.4004T>A | |
13 | g.51937595C>A | CA6988569 | ATP7B | c.*1434G>T (n.*1434G>T) c.*2528G>T (n.*2528G>T) c.3163G>T (p.Val1055Phe) c.3784G>T (p.Val1262Phe) c.3451G>T (p.Val1151Phe) c.3532G>T (p.Val1178Phe) n.1025G>T c.3550G>T (p.Val1184Phe) n.3923G>T n.650G>T c.2719G>T (p.Val907Phe) c.2494G>T (p.Val832Phe) c.3589G>T (p.Val1197Phe) c.1562G>T c.*885G>T (n.*885G>T) n.4528G>T n.3129G>T c.3640G>T (p.Val1214Phe) c.3688G>T (p.Val1230Phe) c.3748G>T (p.Val1250Phe) c.3298G>T (p.Val1100Phe) c.1600G>T (p.Val534Phe) c.1417G>T (p.Val473Phe) c.3649G>T (p.Val1217Phe) c.3601G>T (p.Val1201Phe) c.3370G>T (p.Val1124Phe) c.3271G>T (p.Val1091Phe) c.2452G>T (p.Val818Phe) n.4003G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937595C= | CA2091554121 | ATP7B | c.*1434G= (n.*1434G=) c.*2528G= (n.*2528G=) c.3163G= (p.Val1055=) c.3784G= (p.Val1262=) c.3451G= (p.Val1151=) c.3532G= (p.Val1178=) n.1025G= c.3550G= (p.Val1184=) n.3923G= n.650G= c.2719G= (p.Val907=) c.2494G= (p.Val832=) c.3589G= (p.Val1197=) c.1562G= c.*885G= (n.*885G=) n.4528G= n.3129G= c.3640G= (p.Val1214=) c.3688G= (p.Val1230=) c.3748G= (p.Val1250=) c.3298G= (p.Val1100=) c.1600G= (p.Val534=) c.1417G= (p.Val473=) c.3649G= (p.Val1217=) c.3601G= (p.Val1201=) c.3370G= (p.Val1124=) c.3271G= (p.Val1091=) c.2452G= (p.Val818=) n.4003G= | |
13 | g.51937595C>G | CA388022090 | ATP7B | c.*1434G>C (n.*1434G>C) c.*2528G>C (n.*2528G>C) c.3163G>C (p.Val1055Leu) c.3784G>C (p.Val1262Leu) c.3451G>C (p.Val1151Leu) c.3532G>C (p.Val1178Leu) n.1025G>C c.3550G>C (p.Val1184Leu) n.3923G>C n.650G>C c.2719G>C (p.Val907Leu) c.2494G>C (p.Val832Leu) c.3589G>C (p.Val1197Leu) c.1562G>C c.*885G>C (n.*885G>C) n.4528G>C n.3129G>C c.3640G>C (p.Val1214Leu) c.3688G>C (p.Val1230Leu) c.3748G>C (p.Val1250Leu) c.3298G>C (p.Val1100Leu) c.1600G>C (p.Val534Leu) c.1417G>C (p.Val473Leu) c.3649G>C (p.Val1217Leu) c.3601G>C (p.Val1201Leu) c.3370G>C (p.Val1124Leu) c.3271G>C (p.Val1091Leu) c.2452G>C (p.Val818Leu) n.4003G>C | |
13 | g.51937595C>T | CA388022093 | ATP7B | c.*1434G>A (n.*1434G>A) c.*2528G>A (n.*2528G>A) c.3163G>A (p.Val1055Ile) c.3784G>A (p.Val1262Ile) c.3451G>A (p.Val1151Ile) c.3532G>A (p.Val1178Ile) n.1025G>A c.3550G>A (p.Val1184Ile) n.3923G>A n.650G>A c.2719G>A (p.Val907Ile) c.2494G>A (p.Val832Ile) c.3589G>A (p.Val1197Ile) c.1562G>A c.*885G>A (n.*885G>A) n.4528G>A n.3129G>A c.3640G>A (p.Val1214Ile) c.3688G>A (p.Val1230Ile) c.3748G>A (p.Val1250Ile) c.3298G>A (p.Val1100Ile) c.1600G>A (p.Val534Ile) c.1417G>A (p.Val473Ile) c.3649G>A (p.Val1217Ile) c.3601G>A (p.Val1201Ile) c.3370G>A (p.Val1124Ile) c.3271G>A (p.Val1091Ile) c.2452G>A (p.Val818Ile) n.4003G>A | |
13 | g.51937596T>A | CA388022096 | ATP7B | c.*1433A>T (n.*1433A>T) c.*2527A>T (n.*2527A>T) c.3162A>T (p.Lys1054Asn) c.3783A>T (p.Lys1261Asn) c.3450A>T (p.Lys1150Asn) c.3531A>T (p.Lys1177Asn) n.1024A>T c.3549A>T (p.Lys1183Asn) n.3922A>T n.649A>T c.2718A>T (p.Lys906Asn) c.2493A>T (p.Lys831Asn) c.3588A>T (p.Lys1196Asn) c.1561A>T c.*884A>T (n.*884A>T) n.4527A>T n.3128A>T c.3639A>T (p.Lys1213Asn) c.3687A>T (p.Lys1229Asn) c.3747A>T (p.Lys1249Asn) c.3297A>T (p.Lys1099Asn) c.1599A>T (p.Lys533Asn) c.1416A>T (p.Lys472Asn) c.3648A>T (p.Lys1216Asn) c.3600A>T (p.Lys1200Asn) c.3369A>T (p.Lys1123Asn) c.3270A>T (p.Lys1090Asn) c.2451A>T (p.Lys817Asn) n.4002A>T | |
13 | g.51937596T>C | CA6988570 | ATP7B | c.*1433A>G (n.*1433A>G) c.*2527A>G (n.*2527A>G) c.3162A>G (p.Lys1054=) c.3783A>G (p.Lys1261=) c.3450A>G (p.Lys1150=) c.3531A>G (p.Lys1177=) n.1024A>G c.3549A>G (p.Lys1183=) n.3922A>G n.649A>G c.2718A>G (p.Lys906=) c.2493A>G (p.Lys831=) c.3588A>G (p.Lys1196=) c.1561A>G c.*884A>G (n.*884A>G) n.4527A>G n.3128A>G c.3639A>G (p.Lys1213=) c.3687A>G (p.Lys1229=) c.3747A>G (p.Lys1249=) c.3297A>G (p.Lys1099=) c.1599A>G (p.Lys533=) c.1416A>G (p.Lys472=) c.3648A>G (p.Lys1216=) c.3600A>G (p.Lys1200=) c.3369A>G (p.Lys1123=) c.3270A>G (p.Lys1090=) c.2451A>G (p.Lys817=) n.4002A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937596T>G | CA388022100 | ATP7B | c.*1433A>C (n.*1433A>C) c.*2527A>C (n.*2527A>C) c.3162A>C (p.Lys1054Asn) c.3783A>C (p.Lys1261Asn) c.3450A>C (p.Lys1150Asn) c.3531A>C (p.Lys1177Asn) n.1024A>C c.3549A>C (p.Lys1183Asn) n.3922A>C n.649A>C c.2718A>C (p.Lys906Asn) c.2493A>C (p.Lys831Asn) c.3588A>C (p.Lys1196Asn) c.1561A>C c.*884A>C (n.*884A>C) n.4527A>C n.3128A>C c.3639A>C (p.Lys1213Asn) c.3687A>C (p.Lys1229Asn) c.3747A>C (p.Lys1249Asn) c.3297A>C (p.Lys1099Asn) c.1599A>C (p.Lys533Asn) c.1416A>C (p.Lys472Asn) c.3648A>C (p.Lys1216Asn) c.3600A>C (p.Lys1200Asn) c.3369A>C (p.Lys1123Asn) c.3270A>C (p.Lys1090Asn) c.2451A>C (p.Lys817Asn) n.4002A>C | |
13 | g.51937596T= | CA2091554124 | ATP7B | c.*1433A= (n.*1433A=) c.*2527A= (n.*2527A=) c.3162A= (p.Lys1054=) c.3783A= (p.Lys1261=) c.3450A= (p.Lys1150=) c.3531A= (p.Lys1177=) n.1024A= c.3549A= (p.Lys1183=) n.3922A= n.649A= c.2718A= (p.Lys906=) c.2493A= (p.Lys831=) c.3588A= (p.Lys1196=) c.1561A= c.*884A= (n.*884A=) n.4527A= n.3128A= c.3639A= (p.Lys1213=) c.3687A= (p.Lys1229=) c.3747A= (p.Lys1249=) c.3297A= (p.Lys1099=) c.1599A= (p.Lys533=) c.1416A= (p.Lys472=) c.3648A= (p.Lys1216=) c.3600A= (p.Lys1200=) c.3369A= (p.Lys1123=) c.3270A= (p.Lys1090=) c.2451A= (p.Lys817=) n.4002A= | |
13 | g.51937597T>A | CA388022103 | ATP7B | c.*1432A>T (n.*1432A>T) c.*2526A>T (n.*2526A>T) c.3161A>T (p.Lys1054Ile) c.3782A>T (p.Lys1261Ile) c.3449A>T (p.Lys1150Ile) c.3530A>T (p.Lys1177Ile) n.1023A>T c.3548A>T (p.Lys1183Ile) n.3921A>T n.648A>T c.2717A>T (p.Lys906Ile) c.2492A>T (p.Lys831Ile) c.3587A>T (p.Lys1196Ile) c.1560A>T c.*883A>T (n.*883A>T) n.4526A>T n.3127A>T c.3638A>T (p.Lys1213Ile) c.3686A>T (p.Lys1229Ile) c.3746A>T (p.Lys1249Ile) c.3296A>T (p.Lys1099Ile) c.1598A>T (p.Lys533Ile) c.1415A>T (p.Lys472Ile) c.3647A>T (p.Lys1216Ile) c.3599A>T (p.Lys1200Ile) c.3368A>T (p.Lys1123Ile) c.3269A>T (p.Lys1090Ile) c.2450A>T (p.Lys817Ile) n.4001A>T | |
13 | g.51937597T>C | CA250073735 | ATP7B | c.*1432A>G (n.*1432A>G) c.*2526A>G (n.*2526A>G) c.3161A>G (p.Lys1054Arg) c.3782A>G (p.Lys1261Arg) c.3449A>G (p.Lys1150Arg) c.3530A>G (p.Lys1177Arg) n.1023A>G c.3548A>G (p.Lys1183Arg) n.3921A>G n.648A>G c.2717A>G (p.Lys906Arg) c.2492A>G (p.Lys831Arg) c.3587A>G (p.Lys1196Arg) c.1560A>G c.*883A>G (n.*883A>G) n.4526A>G n.3127A>G c.3638A>G (p.Lys1213Arg) c.3686A>G (p.Lys1229Arg) c.3746A>G (p.Lys1249Arg) c.3296A>G (p.Lys1099Arg) c.1598A>G (p.Lys533Arg) c.1415A>G (p.Lys472Arg) c.3647A>G (p.Lys1216Arg) c.3599A>G (p.Lys1200Arg) c.3368A>G (p.Lys1123Arg) c.3269A>G (p.Lys1090Arg) c.2450A>G (p.Lys817Arg) n.4001A>G | dbSNP |
13 | g.51937597T>G | CA388022108 | ATP7B | c.*1432A>C (n.*1432A>C) c.*2526A>C (n.*2526A>C) c.3161A>C (p.Lys1054Thr) c.3782A>C (p.Lys1261Thr) c.3449A>C (p.Lys1150Thr) c.3530A>C (p.Lys1177Thr) n.1023A>C c.3548A>C (p.Lys1183Thr) n.3921A>C n.648A>C c.2717A>C (p.Lys906Thr) c.2492A>C (p.Lys831Thr) c.3587A>C (p.Lys1196Thr) c.1560A>C c.*883A>C (n.*883A>C) n.4526A>C n.3127A>C c.3638A>C (p.Lys1213Thr) c.3686A>C (p.Lys1229Thr) c.3746A>C (p.Lys1249Thr) c.3296A>C (p.Lys1099Thr) c.1598A>C (p.Lys533Thr) c.1415A>C (p.Lys472Thr) c.3647A>C (p.Lys1216Thr) c.3599A>C (p.Lys1200Thr) c.3368A>C (p.Lys1123Thr) c.3269A>C (p.Lys1090Thr) c.2450A>C (p.Lys817Thr) n.4001A>C | |
13 | g.51937597T= | CA2091554128 | ATP7B | c.*1432A= (n.*1432A=) c.*2526A= (n.*2526A=) c.3161A= (p.Lys1054=) c.3782A= (p.Lys1261=) c.3449A= (p.Lys1150=) c.3530A= (p.Lys1177=) n.1023A= c.3548A= (p.Lys1183=) n.3921A= n.648A= c.2717A= (p.Lys906=) c.2492A= (p.Lys831=) c.3587A= (p.Lys1196=) c.1560A= c.*883A= (n.*883A=) n.4526A= n.3127A= c.3638A= (p.Lys1213=) c.3686A= (p.Lys1229=) c.3746A= (p.Lys1249=) c.3296A= (p.Lys1099=) c.1598A= (p.Lys533=) c.1415A= (p.Lys472=) c.3647A= (p.Lys1216=) c.3599A= (p.Lys1200=) c.3368A= (p.Lys1123=) c.3269A= (p.Lys1090=) c.2450A= (p.Lys817=) n.4001A= | |
13 | g.51937598T>A | CA388022115 | ATP7B | c.*1431A>T (n.*1431A>T) c.*2525A>T (n.*2525A>T) c.3160A>T (p.Lys1054Ter) c.3781A>T (p.Lys1261Ter) c.3448A>T (p.Lys1150Ter) c.3529A>T (p.Lys1177Ter) n.1022A>T c.3547A>T (p.Lys1183Ter) n.3920A>T n.647A>T c.2716A>T (p.Lys906Ter) c.2491A>T (p.Lys831Ter) c.3586A>T (p.Lys1196Ter) c.1559A>T c.*882A>T (n.*882A>T) n.4525A>T n.3126A>T c.3637A>T (p.Lys1213Ter) c.3685A>T (p.Lys1229Ter) c.3745A>T (p.Lys1249Ter) c.3295A>T (p.Lys1099Ter) c.1597A>T (p.Lys533Ter) c.1414A>T (p.Lys472Ter) c.3646A>T (p.Lys1216Ter) c.3598A>T (p.Lys1200Ter) c.3367A>T (p.Lys1123Ter) c.3268A>T (p.Lys1090Ter) c.2449A>T (p.Lys817Ter) n.4000A>T | |
13 | g.51937598T>C | CA388022117 | ATP7B | c.*1431A>G (n.*1431A>G) c.*2525A>G (n.*2525A>G) c.3160A>G (p.Lys1054Glu) c.3781A>G (p.Lys1261Glu) c.3448A>G (p.Lys1150Glu) c.3529A>G (p.Lys1177Glu) n.1022A>G c.3547A>G (p.Lys1183Glu) n.3920A>G n.647A>G c.2716A>G (p.Lys906Glu) c.2491A>G (p.Lys831Glu) c.3586A>G (p.Lys1196Glu) c.1559A>G c.*882A>G (n.*882A>G) n.4525A>G n.3126A>G c.3637A>G (p.Lys1213Glu) c.3685A>G (p.Lys1229Glu) c.3745A>G (p.Lys1249Glu) c.3295A>G (p.Lys1099Glu) c.1597A>G (p.Lys533Glu) c.1414A>G (p.Lys472Glu) c.3646A>G (p.Lys1216Glu) c.3598A>G (p.Lys1200Glu) c.3367A>G (p.Lys1123Glu) c.3268A>G (p.Lys1090Glu) c.2449A>G (p.Lys817Glu) n.4000A>G | gnomAD v4 |
13 | g.51937598T>G | CA388022119 | ATP7B | c.*1431A>C (n.*1431A>C) c.*2525A>C (n.*2525A>C) c.3160A>C (p.Lys1054Gln) c.3781A>C (p.Lys1261Gln) c.3448A>C (p.Lys1150Gln) c.3529A>C (p.Lys1177Gln) n.1022A>C c.3547A>C (p.Lys1183Gln) n.3920A>C n.647A>C c.2716A>C (p.Lys906Gln) c.2491A>C (p.Lys831Gln) c.3586A>C (p.Lys1196Gln) c.1559A>C c.*882A>C (n.*882A>C) n.4525A>C n.3126A>C c.3637A>C (p.Lys1213Gln) c.3685A>C (p.Lys1229Gln) c.3745A>C (p.Lys1249Gln) c.3295A>C (p.Lys1099Gln) c.1597A>C (p.Lys533Gln) c.1414A>C (p.Lys472Gln) c.3646A>C (p.Lys1216Gln) c.3598A>C (p.Lys1200Gln) c.3367A>C (p.Lys1123Gln) c.3268A>C (p.Lys1090Gln) c.2449A>C (p.Lys817Gln) n.4000A>C | |
13 | g.51937599C>A | CA388022123 | ATP7B | c.*1430G>T (n.*1430G>T) c.*2524G>T (n.*2524G>T) c.3159G>T (p.Lys1053Asn) c.3780G>T (p.Lys1260Asn) c.3447G>T (p.Lys1149Asn) c.3528G>T (p.Lys1176Asn) n.1021G>T c.3546G>T (p.Lys1182Asn) n.3919G>T n.646G>T c.2715G>T (p.Lys905Asn) c.2490G>T (p.Lys830Asn) c.3585G>T (p.Lys1195Asn) c.1558G>T c.*881G>T (n.*881G>T) n.4524G>T n.3125G>T c.3636G>T (p.Lys1212Asn) c.3684G>T (p.Lys1228Asn) c.3744G>T (p.Lys1248Asn) c.3294G>T (p.Lys1098Asn) c.1596G>T (p.Lys532Asn) c.1413G>T (p.Lys471Asn) c.3645G>T (p.Lys1215Asn) c.3597G>T (p.Lys1199Asn) c.3366G>T (p.Lys1122Asn) c.3267G>T (p.Lys1089Asn) c.2448G>T (p.Lys816Asn) n.3999G>T | gnomAD v4 |
13 | g.51937599C>G | CA388022121 | ATP7B | c.*1430G>C (n.*1430G>C) c.*2524G>C (n.*2524G>C) c.3159G>C (p.Lys1053Asn) c.3780G>C (p.Lys1260Asn) c.3447G>C (p.Lys1149Asn) c.3528G>C (p.Lys1176Asn) n.1021G>C c.3546G>C (p.Lys1182Asn) n.3919G>C n.646G>C c.2715G>C (p.Lys905Asn) c.2490G>C (p.Lys830Asn) c.3585G>C (p.Lys1195Asn) c.1558G>C c.*881G>C (n.*881G>C) n.4524G>C n.3125G>C c.3636G>C (p.Lys1212Asn) c.3684G>C (p.Lys1228Asn) c.3744G>C (p.Lys1248Asn) c.3294G>C (p.Lys1098Asn) c.1596G>C (p.Lys532Asn) c.1413G>C (p.Lys471Asn) c.3645G>C (p.Lys1215Asn) c.3597G>C (p.Lys1199Asn) c.3366G>C (p.Lys1122Asn) c.3267G>C (p.Lys1089Asn) c.2448G>C (p.Lys816Asn) n.3999G>C | COSMIC |
13 | g.51937599C>T | CA484024349 | ATP7B | c.*1430G>A (n.*1430G>A) c.*2524G>A (n.*2524G>A) c.3159G>A (p.Lys1053=) c.3780G>A (p.Lys1260=) c.3447G>A (p.Lys1149=) c.3528G>A (p.Lys1176=) n.1021G>A c.3546G>A (p.Lys1182=) n.3919G>A n.646G>A c.2715G>A (p.Lys905=) c.2490G>A (p.Lys830=) c.3585G>A (p.Lys1195=) c.1558G>A c.*881G>A (n.*881G>A) n.4524G>A n.3125G>A c.3636G>A (p.Lys1212=) c.3684G>A (p.Lys1228=) c.3744G>A (p.Lys1248=) c.3294G>A (p.Lys1098=) c.1596G>A (p.Lys532=) c.1413G>A (p.Lys471=) c.3645G>A (p.Lys1215=) c.3597G>A (p.Lys1199=) c.3366G>A (p.Lys1122=) c.3267G>A (p.Lys1089=) c.2448G>A (p.Lys816=) n.3999G>A | |
13 | g.51937600T>A | CA388022127 | ATP7B | c.*1429A>T (n.*1429A>T) c.*2523A>T (n.*2523A>T) c.3158A>T (p.Lys1053Met) c.3779A>T (p.Lys1260Met) c.3446A>T (p.Lys1149Met) c.3527A>T (p.Lys1176Met) n.1020A>T c.3545A>T (p.Lys1182Met) n.3918A>T n.645A>T c.2714A>T (p.Lys905Met) c.2489A>T (p.Lys830Met) c.3584A>T (p.Lys1195Met) c.1557A>T c.*880A>T (n.*880A>T) n.4523A>T n.3124A>T c.3635A>T (p.Lys1212Met) c.3683A>T (p.Lys1228Met) c.3743A>T (p.Lys1248Met) c.3293A>T (p.Lys1098Met) c.1595A>T (p.Lys532Met) c.1412A>T (p.Lys471Met) c.3644A>T (p.Lys1215Met) c.3596A>T (p.Lys1199Met) c.3365A>T (p.Lys1122Met) c.3266A>T (p.Lys1089Met) c.2447A>T (p.Lys816Met) n.3998A>T | |
13 | g.51937600T>C | CA6988571 | ATP7B | c.*1429A>G (n.*1429A>G) c.*2523A>G (n.*2523A>G) c.3158A>G (p.Lys1053Arg) c.3779A>G (p.Lys1260Arg) c.3446A>G (p.Lys1149Arg) c.3527A>G (p.Lys1176Arg) n.1020A>G c.3545A>G (p.Lys1182Arg) n.3918A>G n.645A>G c.2714A>G (p.Lys905Arg) c.2489A>G (p.Lys830Arg) c.3584A>G (p.Lys1195Arg) c.1557A>G c.*880A>G (n.*880A>G) n.4523A>G n.3124A>G c.3635A>G (p.Lys1212Arg) c.3683A>G (p.Lys1228Arg) c.3743A>G (p.Lys1248Arg) c.3293A>G (p.Lys1098Arg) c.1595A>G (p.Lys532Arg) c.1412A>G (p.Lys471Arg) c.3644A>G (p.Lys1215Arg) c.3596A>G (p.Lys1199Arg) c.3365A>G (p.Lys1122Arg) c.3266A>G (p.Lys1089Arg) c.2447A>G (p.Lys816Arg) n.3998A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937600T>G | CA388022130 | ATP7B | c.*1429A>C (n.*1429A>C) c.*2523A>C (n.*2523A>C) c.3158A>C (p.Lys1053Thr) c.3779A>C (p.Lys1260Thr) c.3446A>C (p.Lys1149Thr) c.3527A>C (p.Lys1176Thr) n.1020A>C c.3545A>C (p.Lys1182Thr) n.3918A>C n.645A>C c.2714A>C (p.Lys905Thr) c.2489A>C (p.Lys830Thr) c.3584A>C (p.Lys1195Thr) c.1557A>C c.*880A>C (n.*880A>C) n.4523A>C n.3124A>C c.3635A>C (p.Lys1212Thr) c.3683A>C (p.Lys1228Thr) c.3743A>C (p.Lys1248Thr) c.3293A>C (p.Lys1098Thr) c.1595A>C (p.Lys532Thr) c.1412A>C (p.Lys471Thr) c.3644A>C (p.Lys1215Thr) c.3596A>C (p.Lys1199Thr) c.3365A>C (p.Lys1122Thr) c.3266A>C (p.Lys1089Thr) c.2447A>C (p.Lys816Thr) n.3998A>C | |
13 | g.51937600T= | CA2091554132 | ATP7B | c.*1429A= (n.*1429A=) c.*2523A= (n.*2523A=) c.3158A= (p.Lys1053=) c.3779A= (p.Lys1260=) c.3446A= (p.Lys1149=) c.3527A= (p.Lys1176=) n.1020A= c.3545A= (p.Lys1182=) n.3918A= n.645A= c.2714A= (p.Lys905=) c.2489A= (p.Lys830=) c.3584A= (p.Lys1195=) c.1557A= c.*880A= (n.*880A=) n.4523A= n.3124A= c.3635A= (p.Lys1212=) c.3683A= (p.Lys1228=) c.3743A= (p.Lys1248=) c.3293A= (p.Lys1098=) c.1595A= (p.Lys532=) c.1412A= (p.Lys471=) c.3644A= (p.Lys1215=) c.3596A= (p.Lys1199=) c.3365A= (p.Lys1122=) c.3266A= (p.Lys1089=) c.2447A= (p.Lys816=) n.3998A= | |
13 | g.51937601del | CA2623119310 | ATP7B | c.*1429del (n.*1429del) c.*2523del (n.*2523del) c.3158del (p.Lys1053ArgfsTer?) c.3779del (p.Lys1260ArgfsTer?) c.3446del (p.Lys1149ArgfsTer?) c.3527del (p.Lys1176ArgfsTer?) n.1020del c.3545del (p.Lys1182ArgfsTer?) n.3918del n.645del c.2714del (p.Lys905ArgfsTer?) c.2489del (p.Lys830ArgfsTer?) c.3584del (p.Lys1195ArgfsTer?) c.1557del c.*880del (n.*880del) n.4523del n.3124del c.3635del (p.Lys1212ArgfsTer?) c.3683del (p.Lys1228ArgfsTer?) c.3743del (p.Lys1248ArgfsTer?) c.3293del (p.Lys1098ArgfsTer?) c.1595del (p.Lys532ArgfsTer?) c.1412del (p.Lys471ArgfsTer?) c.3644del (p.Lys1215ArgfsTer?) c.3596del (p.Lys1199ArgfsTer?) c.3365del (p.Lys1122ArgfsTer?) c.3266del (p.Lys1089ArgfsTer?) c.2447del (p.Lys816ArgfsTer?) n.3998del | gnomAD v4 |
13 | g.51937601T>A | CA388022133 | ATP7B | c.*1428A>T (n.*1428A>T) c.*2522A>T (n.*2522A>T) c.3157A>T (p.Lys1053Ter) c.3778A>T (p.Lys1260Ter) c.3445A>T (p.Lys1149Ter) c.3526A>T (p.Lys1176Ter) n.1019A>T c.3544A>T (p.Lys1182Ter) n.3917A>T n.644A>T c.2713A>T (p.Lys905Ter) c.2488A>T (p.Lys830Ter) c.3583A>T (p.Lys1195Ter) c.1556A>T c.*879A>T (n.*879A>T) n.4522A>T n.3123A>T c.3634A>T (p.Lys1212Ter) c.3682A>T (p.Lys1228Ter) c.3742A>T (p.Lys1248Ter) c.3292A>T (p.Lys1098Ter) c.1594A>T (p.Lys532Ter) c.1411A>T (p.Lys471Ter) c.3643A>T (p.Lys1215Ter) c.3595A>T (p.Lys1199Ter) c.3364A>T (p.Lys1122Ter) c.3265A>T (p.Lys1089Ter) c.2446A>T (p.Lys816Ter) n.3997A>T | |
13 | g.51937601T>C | CA388022134 | ATP7B | c.*1428A>G (n.*1428A>G) c.*2522A>G (n.*2522A>G) c.3157A>G (p.Lys1053Glu) c.3778A>G (p.Lys1260Glu) c.3445A>G (p.Lys1149Glu) c.3526A>G (p.Lys1176Glu) n.1019A>G c.3544A>G (p.Lys1182Glu) n.3917A>G n.644A>G c.2713A>G (p.Lys905Glu) c.2488A>G (p.Lys830Glu) c.3583A>G (p.Lys1195Glu) c.1556A>G c.*879A>G (n.*879A>G) n.4522A>G n.3123A>G c.3634A>G (p.Lys1212Glu) c.3682A>G (p.Lys1228Glu) c.3742A>G (p.Lys1248Glu) c.3292A>G (p.Lys1098Glu) c.1594A>G (p.Lys532Glu) c.1411A>G (p.Lys471Glu) c.3643A>G (p.Lys1215Glu) c.3595A>G (p.Lys1199Glu) c.3364A>G (p.Lys1122Glu) c.3265A>G (p.Lys1089Glu) c.2446A>G (p.Lys816Glu) n.3997A>G | |
13 | g.51937601T>G | CA388022137 | ATP7B | c.*1428A>C (n.*1428A>C) c.*2522A>C (n.*2522A>C) c.3157A>C (p.Lys1053Gln) c.3778A>C (p.Lys1260Gln) c.3445A>C (p.Lys1149Gln) c.3526A>C (p.Lys1176Gln) n.1019A>C c.3544A>C (p.Lys1182Gln) n.3917A>C n.644A>C c.2713A>C (p.Lys905Gln) c.2488A>C (p.Lys830Gln) c.3583A>C (p.Lys1195Gln) c.1556A>C c.*879A>C (n.*879A>C) n.4522A>C n.3123A>C c.3634A>C (p.Lys1212Gln) c.3682A>C (p.Lys1228Gln) c.3742A>C (p.Lys1248Gln) c.3292A>C (p.Lys1098Gln) c.1594A>C (p.Lys532Gln) c.1411A>C (p.Lys471Gln) c.3643A>C (p.Lys1215Gln) c.3595A>C (p.Lys1199Gln) c.3364A>C (p.Lys1122Gln) c.3265A>C (p.Lys1089Gln) c.2446A>C (p.Lys816Gln) n.3997A>C | |
13 | g.51937602C>A | CA484024350 | ATP7B | c.*1427G>T (n.*1427G>T) c.*2521G>T (n.*2521G>T) c.3156G>T (p.Gly1052=) c.3777G>T (p.Gly1259=) c.3444G>T (p.Gly1148=) c.3525G>T (p.Gly1175=) n.1018G>T c.3543G>T (p.Gly1181=) n.3916G>T n.643G>T c.2712G>T (p.Gly904=) c.2487G>T (p.Gly829=) c.3582G>T (p.Gly1194=) c.1555G>T c.*878G>T (n.*878G>T) n.4521G>T n.3122G>T c.3633G>T (p.Gly1211=) c.3681G>T (p.Gly1227=) c.3741G>T (p.Gly1247=) c.3291G>T (p.Gly1097=) c.1593G>T (p.Gly531=) c.1410G>T (p.Gly470=) c.3642G>T (p.Gly1214=) c.3594G>T (p.Gly1198=) c.3363G>T (p.Gly1121=) c.3264G>T (p.Gly1088=) c.2445G>T (p.Gly815=) n.3996G>T | |
13 | g.51937602C>G | CA484024351 | ATP7B | c.*1427G>C (n.*1427G>C) c.*2521G>C (n.*2521G>C) c.3156G>C (p.Gly1052=) c.3777G>C (p.Gly1259=) c.3444G>C (p.Gly1148=) c.3525G>C (p.Gly1175=) n.1018G>C c.3543G>C (p.Gly1181=) n.3916G>C n.643G>C c.2712G>C (p.Gly904=) c.2487G>C (p.Gly829=) c.3582G>C (p.Gly1194=) c.1555G>C c.*878G>C (n.*878G>C) n.4521G>C n.3122G>C c.3633G>C (p.Gly1211=) c.3681G>C (p.Gly1227=) c.3741G>C (p.Gly1247=) c.3291G>C (p.Gly1097=) c.1593G>C (p.Gly531=) c.1410G>C (p.Gly470=) c.3642G>C (p.Gly1214=) c.3594G>C (p.Gly1198=) c.3363G>C (p.Gly1121=) c.3264G>C (p.Gly1088=) c.2445G>C (p.Gly815=) n.3996G>C | |
13 | g.51937602C>T | CA484024352 | ATP7B | c.*1427G>A (n.*1427G>A) c.*2521G>A (n.*2521G>A) c.3156G>A (p.Gly1052=) c.3777G>A (p.Gly1259=) c.3444G>A (p.Gly1148=) c.3525G>A (p.Gly1175=) n.1018G>A c.3543G>A (p.Gly1181=) n.3916G>A n.643G>A c.2712G>A (p.Gly904=) c.2487G>A (p.Gly829=) c.3582G>A (p.Gly1194=) c.1555G>A c.*878G>A (n.*878G>A) n.4521G>A n.3122G>A c.3633G>A (p.Gly1211=) c.3681G>A (p.Gly1227=) c.3741G>A (p.Gly1247=) c.3291G>A (p.Gly1097=) c.1593G>A (p.Gly531=) c.1410G>A (p.Gly470=) c.3642G>A (p.Gly1214=) c.3594G>A (p.Gly1198=) c.3363G>A (p.Gly1121=) c.3264G>A (p.Gly1088=) c.2445G>A (p.Gly815=) n.3996G>A | |
13 | g.51937603C>A | CA388022148 | ATP7B | c.*1426G>T (n.*1426G>T) c.*2520G>T (n.*2520G>T) c.3155G>T (p.Gly1052Val) c.3776G>T (p.Gly1259Val) c.3443G>T (p.Gly1148Val) c.3524G>T (p.Gly1175Val) n.1017G>T c.3542G>T (p.Gly1181Val) n.3915G>T n.642G>T c.2711G>T (p.Gly904Val) c.2486G>T (p.Gly829Val) c.3581G>T (p.Gly1194Val) c.1554G>T c.*877G>T (n.*877G>T) n.4520G>T n.3121G>T c.3632G>T (p.Gly1211Val) c.3680G>T (p.Gly1227Val) c.3740G>T (p.Gly1247Val) c.3290G>T (p.Gly1097Val) c.1592G>T (p.Gly531Val) c.1409G>T (p.Gly470Val) c.3641G>T (p.Gly1214Val) c.3593G>T (p.Gly1198Val) c.3362G>T (p.Gly1121Val) c.3263G>T (p.Gly1088Val) c.2444G>T (p.Gly815Val) n.3995G>T | gnomAD v4 |
13 | g.51937603C= | CA2091554138 | ATP7B | c.*1426G= (n.*1426G=) c.*2520G= (n.*2520G=) c.3155G= (p.Gly1052=) c.3776G= (p.Gly1259=) c.3443G= (p.Gly1148=) c.3524G= (p.Gly1175=) n.1017G= c.3542G= (p.Gly1181=) n.3915G= n.642G= c.2711G= (p.Gly904=) c.2486G= (p.Gly829=) c.3581G= (p.Gly1194=) c.1554G= c.*877G= (n.*877G=) n.4520G= n.3121G= c.3632G= (p.Gly1211=) c.3680G= (p.Gly1227=) c.3740G= (p.Gly1247=) c.3290G= (p.Gly1097=) c.1592G= (p.Gly531=) c.1409G= (p.Gly470=) c.3641G= (p.Gly1214=) c.3593G= (p.Gly1198=) c.3362G= (p.Gly1121=) c.3263G= (p.Gly1088=) c.2444G= (p.Gly815=) n.3995G= | |
13 | g.51937603C>G | CA388022143 | ATP7B | c.*1426G>C (n.*1426G>C) c.*2520G>C (n.*2520G>C) c.3155G>C (p.Gly1052Ala) c.3776G>C (p.Gly1259Ala) c.3443G>C (p.Gly1148Ala) c.3524G>C (p.Gly1175Ala) n.1017G>C c.3542G>C (p.Gly1181Ala) n.3915G>C n.642G>C c.2711G>C (p.Gly904Ala) c.2486G>C (p.Gly829Ala) c.3581G>C (p.Gly1194Ala) c.1554G>C c.*877G>C (n.*877G>C) n.4520G>C n.3121G>C c.3632G>C (p.Gly1211Ala) c.3680G>C (p.Gly1227Ala) c.3740G>C (p.Gly1247Ala) c.3290G>C (p.Gly1097Ala) c.1592G>C (p.Gly531Ala) c.1409G>C (p.Gly470Ala) c.3641G>C (p.Gly1214Ala) c.3593G>C (p.Gly1198Ala) c.3362G>C (p.Gly1121Ala) c.3263G>C (p.Gly1088Ala) c.2444G>C (p.Gly815Ala) n.3995G>C | |
13 | g.51937603C>T | CA388022145 | ATP7B | c.*1426G>A (n.*1426G>A) c.*2520G>A (n.*2520G>A) c.3155G>A (p.Gly1052Glu) c.3776G>A (p.Gly1259Glu) c.3443G>A (p.Gly1148Glu) c.3524G>A (p.Gly1175Glu) n.1017G>A c.3542G>A (p.Gly1181Glu) n.3915G>A n.642G>A c.2711G>A (p.Gly904Glu) c.2486G>A (p.Gly829Glu) c.3581G>A (p.Gly1194Glu) c.1554G>A c.*877G>A (n.*877G>A) n.4520G>A n.3121G>A c.3632G>A (p.Gly1211Glu) c.3680G>A (p.Gly1227Glu) c.3740G>A (p.Gly1247Glu) c.3290G>A (p.Gly1097Glu) c.1592G>A (p.Gly531Glu) c.1409G>A (p.Gly470Glu) c.3641G>A (p.Gly1214Glu) c.3593G>A (p.Gly1198Glu) c.3362G>A (p.Gly1121Glu) c.3263G>A (p.Gly1088Glu) c.2444G>A (p.Gly815Glu) n.3995G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937604C>A | CA388022152 | ATP7B | c.*1425G>T (n.*1425G>T) c.*2519G>T (n.*2519G>T) c.3154G>T (p.Gly1052Trp) c.3775G>T (p.Gly1259Trp) c.3442G>T (p.Gly1148Trp) c.3523G>T (p.Gly1175Trp) n.1016G>T c.3541G>T (p.Gly1181Trp) n.3914G>T n.641G>T c.2710G>T (p.Gly904Trp) c.2485G>T (p.Gly829Trp) c.3580G>T (p.Gly1194Trp) c.1553G>T c.*876G>T (n.*876G>T) n.4519G>T n.3120G>T c.3631G>T (p.Gly1211Trp) c.3679G>T (p.Gly1227Trp) c.3739G>T (p.Gly1247Trp) c.3289G>T (p.Gly1097Trp) c.1591G>T (p.Gly531Trp) c.1408G>T (p.Gly470Trp) c.3640G>T (p.Gly1214Trp) c.3592G>T (p.Gly1198Trp) c.3361G>T (p.Gly1121Trp) c.3262G>T (p.Gly1088Trp) c.2443G>T (p.Gly815Trp) n.3994G>T | |
13 | g.51937604C= | CA2091554144 | ATP7B | c.*1425G= (n.*1425G=) c.*2519G= (n.*2519G=) c.3154G= (p.Gly1052=) c.3775G= (p.Gly1259=) c.3442G= (p.Gly1148=) c.3523G= (p.Gly1175=) n.1016G= c.3541G= (p.Gly1181=) n.3914G= n.641G= c.2710G= (p.Gly904=) c.2485G= (p.Gly829=) c.3580G= (p.Gly1194=) c.1553G= c.*876G= (n.*876G=) n.4519G= n.3120G= c.3631G= (p.Gly1211=) c.3679G= (p.Gly1227=) c.3739G= (p.Gly1247=) c.3289G= (p.Gly1097=) c.1591G= (p.Gly531=) c.1408G= (p.Gly470=) c.3640G= (p.Gly1214=) c.3592G= (p.Gly1198=) c.3361G= (p.Gly1121=) c.3262G= (p.Gly1088=) c.2443G= (p.Gly815=) n.3994G= | |
13 | g.51937604C>G | CA388022153 | ATP7B | c.*1425G>C (n.*1425G>C) c.*2519G>C (n.*2519G>C) c.3154G>C (p.Gly1052Arg) c.3775G>C (p.Gly1259Arg) c.3442G>C (p.Gly1148Arg) c.3523G>C (p.Gly1175Arg) n.1016G>C c.3541G>C (p.Gly1181Arg) n.3914G>C n.641G>C c.2710G>C (p.Gly904Arg) c.2485G>C (p.Gly829Arg) c.3580G>C (p.Gly1194Arg) c.1553G>C c.*876G>C (n.*876G>C) n.4519G>C n.3120G>C c.3631G>C (p.Gly1211Arg) c.3679G>C (p.Gly1227Arg) c.3739G>C (p.Gly1247Arg) c.3289G>C (p.Gly1097Arg) c.1591G>C (p.Gly531Arg) c.1408G>C (p.Gly470Arg) c.3640G>C (p.Gly1214Arg) c.3592G>C (p.Gly1198Arg) c.3361G>C (p.Gly1121Arg) c.3262G>C (p.Gly1088Arg) c.2443G>C (p.Gly815Arg) n.3994G>C | |
13 | g.51937604C>T | CA6988572 | ATP7B | c.*1425G>A (n.*1425G>A) c.*2519G>A (n.*2519G>A) c.3154G>A (p.Gly1052Arg) c.3775G>A (p.Gly1259Arg) c.3442G>A (p.Gly1148Arg) c.3523G>A (p.Gly1175Arg) n.1016G>A c.3541G>A (p.Gly1181Arg) n.3914G>A n.641G>A c.2710G>A (p.Gly904Arg) c.2485G>A (p.Gly829Arg) c.3580G>A (p.Gly1194Arg) c.1553G>A c.*876G>A (n.*876G>A) n.4519G>A n.3120G>A c.3631G>A (p.Gly1211Arg) c.3679G>A (p.Gly1227Arg) c.3739G>A (p.Gly1247Arg) c.3289G>A (p.Gly1097Arg) c.1591G>A (p.Gly531Arg) c.1408G>A (p.Gly470Arg) c.3640G>A (p.Gly1214Arg) c.3592G>A (p.Gly1198Arg) c.3361G>A (p.Gly1121Arg) c.3262G>A (p.Gly1088Arg) c.2443G>A (p.Gly815Arg) n.3994G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937604_51937607dup | CA2695199758 | ATP7B | c.*1422_*1425dup (n.*1422_*1425dup) c.*2516_*2519dup (n.*2516_*2519dup) c.3151_3154dup (p.Gly1052GlufsTer14) c.3772_3775dup (p.Gly1259GlufsTer14) c.3439_3442dup (p.Gly1148GlufsTer14) c.3520_3523dup (p.Gly1175GlufsTer14) n.1013_1016dup c.3538_3541dup (p.Gly1181GlufsTer14) n.3911_3914dup n.638_641dup c.2707_2710dup (p.Gly904GlufsTer14) c.2482_2485dup (p.Gly829GlufsTer14) c.3577_3580dup (p.Gly1194GlufsTer14) c.1550_1553dup c.*873_*876dup (n.*873_*876dup) n.4516_4519dup n.3117_3120dup c.3628_3631dup (p.Gly1211GlufsTer14) c.3676_3679dup (p.Gly1227GlufsTer14) c.3736_3739dup (p.Gly1247GlufsTer14) c.3286_3289dup (p.Gly1097GlufsTer14) c.1588_1591dup (p.Gly531GlufsTer14) c.1405_1408dup (p.Gly470GlufsTer14) c.3637_3640dup (p.Gly1214GlufsTer14) c.3589_3592dup (p.Gly1198GlufsTer14) c.3358_3361dup (p.Gly1121GlufsTer14) c.3259_3262dup (p.Gly1088GlufsTer14) c.2440_2443dup (p.Gly815GlufsTer14) n.3991_3994dup | ClinVar |
13 | g.51937605T>A | CA388022156 | ATP7B | c.*1424A>T (n.*1424A>T) c.*2518A>T (n.*2518A>T) c.3153A>T (p.Lys1051Asn) c.3774A>T (p.Lys1258Asn) c.3441A>T (p.Lys1147Asn) c.3522A>T (p.Lys1174Asn) n.1015A>T c.3540A>T (p.Lys1180Asn) n.3913A>T n.640A>T c.2709A>T (p.Lys903Asn) c.2484A>T (p.Lys828Asn) c.3579A>T (p.Lys1193Asn) c.1552A>T c.*875A>T (n.*875A>T) n.4518A>T n.3119A>T c.3630A>T (p.Lys1210Asn) c.3678A>T (p.Lys1226Asn) c.3738A>T (p.Lys1246Asn) c.3288A>T (p.Lys1096Asn) c.1590A>T (p.Lys530Asn) c.1407A>T (p.Lys469Asn) c.3639A>T (p.Lys1213Asn) c.3591A>T (p.Lys1197Asn) c.3360A>T (p.Lys1120Asn) c.3261A>T (p.Lys1087Asn) c.2442A>T (p.Lys814Asn) n.3993A>T | |
13 | g.51937605T>C | CA484024625 | ATP7B | c.*1424A>G (n.*1424A>G) c.*2518A>G (n.*2518A>G) c.3153A>G (p.Lys1051=) c.3774A>G (p.Lys1258=) c.3441A>G (p.Lys1147=) c.3522A>G (p.Lys1174=) n.1015A>G c.3540A>G (p.Lys1180=) n.3913A>G n.640A>G c.2709A>G (p.Lys903=) c.2484A>G (p.Lys828=) c.3579A>G (p.Lys1193=) c.1552A>G c.*875A>G (n.*875A>G) n.4518A>G n.3119A>G c.3630A>G (p.Lys1210=) c.3678A>G (p.Lys1226=) c.3738A>G (p.Lys1246=) c.3288A>G (p.Lys1096=) c.1590A>G (p.Lys530=) c.1407A>G (p.Lys469=) c.3639A>G (p.Lys1213=) c.3591A>G (p.Lys1197=) c.3360A>G (p.Lys1120=) c.3261A>G (p.Lys1087=) c.2442A>G (p.Lys814=) n.3993A>G | gnomAD v4 |
13 | g.51937605T>G | CA388022157 | ATP7B | c.*1424A>C (n.*1424A>C) c.*2518A>C (n.*2518A>C) c.3153A>C (p.Lys1051Asn) c.3774A>C (p.Lys1258Asn) c.3441A>C (p.Lys1147Asn) c.3522A>C (p.Lys1174Asn) n.1015A>C c.3540A>C (p.Lys1180Asn) n.3913A>C n.640A>C c.2709A>C (p.Lys903Asn) c.2484A>C (p.Lys828Asn) c.3579A>C (p.Lys1193Asn) c.1552A>C c.*875A>C (n.*875A>C) n.4518A>C n.3119A>C c.3630A>C (p.Lys1210Asn) c.3678A>C (p.Lys1226Asn) c.3738A>C (p.Lys1246Asn) c.3288A>C (p.Lys1096Asn) c.1590A>C (p.Lys530Asn) c.1407A>C (p.Lys469Asn) c.3639A>C (p.Lys1213Asn) c.3591A>C (p.Lys1197Asn) c.3360A>C (p.Lys1120Asn) c.3261A>C (p.Lys1087Asn) c.2442A>C (p.Lys814Asn) n.3993A>C | |
13 | g.51937606T>A | CA388022159 | ATP7B | c.*1423A>T (n.*1423A>T) c.*2517A>T (n.*2517A>T) c.3152A>T (p.Lys1051Ile) c.3773A>T (p.Lys1258Ile) c.3440A>T (p.Lys1147Ile) c.3521A>T (p.Lys1174Ile) n.1014A>T c.3539A>T (p.Lys1180Ile) n.3912A>T n.639A>T c.2708A>T (p.Lys903Ile) c.2483A>T (p.Lys828Ile) c.3578A>T (p.Lys1193Ile) c.1551A>T c.*874A>T (n.*874A>T) n.4517A>T n.3118A>T c.3629A>T (p.Lys1210Ile) c.3677A>T (p.Lys1226Ile) c.3737A>T (p.Lys1246Ile) c.3287A>T (p.Lys1096Ile) c.1589A>T (p.Lys530Ile) c.1406A>T (p.Lys469Ile) c.3638A>T (p.Lys1213Ile) c.3590A>T (p.Lys1197Ile) c.3359A>T (p.Lys1120Ile) c.3260A>T (p.Lys1087Ile) c.2441A>T (p.Lys814Ile) n.3992A>T | |
13 | g.51937606T>C | CA388022163 | ATP7B | c.*1423A>G (n.*1423A>G) c.*2517A>G (n.*2517A>G) c.3152A>G (p.Lys1051Arg) c.3773A>G (p.Lys1258Arg) c.3440A>G (p.Lys1147Arg) c.3521A>G (p.Lys1174Arg) n.1014A>G c.3539A>G (p.Lys1180Arg) n.3912A>G n.639A>G c.2708A>G (p.Lys903Arg) c.2483A>G (p.Lys828Arg) c.3578A>G (p.Lys1193Arg) c.1551A>G c.*874A>G (n.*874A>G) n.4517A>G n.3118A>G c.3629A>G (p.Lys1210Arg) c.3677A>G (p.Lys1226Arg) c.3737A>G (p.Lys1246Arg) c.3287A>G (p.Lys1096Arg) c.1589A>G (p.Lys530Arg) c.1406A>G (p.Lys469Arg) c.3638A>G (p.Lys1213Arg) c.3590A>G (p.Lys1197Arg) c.3359A>G (p.Lys1120Arg) c.3260A>G (p.Lys1087Arg) c.2441A>G (p.Lys814Arg) n.3992A>G | |
13 | g.51937606T>G | CA388022161 | ATP7B | c.*1423A>C (n.*1423A>C) c.*2517A>C (n.*2517A>C) c.3152A>C (p.Lys1051Thr) c.3773A>C (p.Lys1258Thr) c.3440A>C (p.Lys1147Thr) c.3521A>C (p.Lys1174Thr) n.1014A>C c.3539A>C (p.Lys1180Thr) n.3912A>C n.639A>C c.2708A>C (p.Lys903Thr) c.2483A>C (p.Lys828Thr) c.3578A>C (p.Lys1193Thr) c.1551A>C c.*874A>C (n.*874A>C) n.4517A>C n.3118A>C c.3629A>C (p.Lys1210Thr) c.3677A>C (p.Lys1226Thr) c.3737A>C (p.Lys1246Thr) c.3287A>C (p.Lys1096Thr) c.1589A>C (p.Lys530Thr) c.1406A>C (p.Lys469Thr) c.3638A>C (p.Lys1213Thr) c.3590A>C (p.Lys1197Thr) c.3359A>C (p.Lys1120Thr) c.3260A>C (p.Lys1087Thr) c.2441A>C (p.Lys814Thr) n.3992A>C | |
13 | g.51937607T>A | CA388022165 | ATP7B | c.*1422A>T (n.*1422A>T) c.*2516A>T (n.*2516A>T) c.3151A>T (p.Lys1051Ter) c.3772A>T (p.Lys1258Ter) c.3439A>T (p.Lys1147Ter) c.3520A>T (p.Lys1174Ter) n.1013A>T c.3538A>T (p.Lys1180Ter) n.3911A>T n.638A>T c.2707A>T (p.Lys903Ter) c.2482A>T (p.Lys828Ter) c.3577A>T (p.Lys1193Ter) c.1550A>T c.*873A>T (n.*873A>T) n.4516A>T n.3117A>T c.3628A>T (p.Lys1210Ter) c.3676A>T (p.Lys1226Ter) c.3736A>T (p.Lys1246Ter) c.3286A>T (p.Lys1096Ter) c.1588A>T (p.Lys530Ter) c.1405A>T (p.Lys469Ter) c.3637A>T (p.Lys1213Ter) c.3589A>T (p.Lys1197Ter) c.3358A>T (p.Lys1120Ter) c.3259A>T (p.Lys1087Ter) c.2440A>T (p.Lys814Ter) n.3991A>T | ClinVar dbSNP |
13 | g.51937607T>C | CA388022167 | ATP7B | c.*1422A>G (n.*1422A>G) c.*2516A>G (n.*2516A>G) c.3151A>G (p.Lys1051Glu) c.3772A>G (p.Lys1258Glu) c.3439A>G (p.Lys1147Glu) c.3520A>G (p.Lys1174Glu) n.1013A>G c.3538A>G (p.Lys1180Glu) n.3911A>G n.638A>G c.2707A>G (p.Lys903Glu) c.2482A>G (p.Lys828Glu) c.3577A>G (p.Lys1193Glu) c.1550A>G c.*873A>G (n.*873A>G) n.4516A>G n.3117A>G c.3628A>G (p.Lys1210Glu) c.3676A>G (p.Lys1226Glu) c.3736A>G (p.Lys1246Glu) c.3286A>G (p.Lys1096Glu) c.1588A>G (p.Lys530Glu) c.1405A>G (p.Lys469Glu) c.3637A>G (p.Lys1213Glu) c.3589A>G (p.Lys1197Glu) c.3358A>G (p.Lys1120Glu) c.3259A>G (p.Lys1087Glu) c.2440A>G (p.Lys814Glu) n.3991A>G | |
13 | g.51937607T>G | CA388022169 | ATP7B | c.*1422A>C (n.*1422A>C) c.*2516A>C (n.*2516A>C) c.3151A>C (p.Lys1051Gln) c.3772A>C (p.Lys1258Gln) c.3439A>C (p.Lys1147Gln) c.3520A>C (p.Lys1174Gln) n.1013A>C c.3538A>C (p.Lys1180Gln) n.3911A>C n.638A>C c.2707A>C (p.Lys903Gln) c.2482A>C (p.Lys828Gln) c.3577A>C (p.Lys1193Gln) c.1550A>C c.*873A>C (n.*873A>C) n.4516A>C n.3117A>C c.3628A>C (p.Lys1210Gln) c.3676A>C (p.Lys1226Gln) c.3736A>C (p.Lys1246Gln) c.3286A>C (p.Lys1096Gln) c.1588A>C (p.Lys530Gln) c.1405A>C (p.Lys469Gln) c.3637A>C (p.Lys1213Gln) c.3589A>C (p.Lys1197Gln) c.3358A>C (p.Lys1120Gln) c.3259A>C (p.Lys1087Gln) c.2440A>C (p.Lys814Gln) n.3991A>C | gnomAD v4 |
13 | g.51937607T= | CA2091554147 | ATP7B | c.*1422A= (n.*1422A=) c.*2516A= (n.*2516A=) c.3151A= (p.Lys1051=) c.3772A= (p.Lys1258=) c.3439A= (p.Lys1147=) c.3520A= (p.Lys1174=) n.1013A= c.3538A= (p.Lys1180=) n.3911A= n.638A= c.2707A= (p.Lys903=) c.2482A= (p.Lys828=) c.3577A= (p.Lys1193=) c.1550A= c.*873A= (n.*873A=) n.4516A= n.3117A= c.3628A= (p.Lys1210=) c.3676A= (p.Lys1226=) c.3736A= (p.Lys1246=) c.3286A= (p.Lys1096=) c.1588A= (p.Lys530=) c.1405A= (p.Lys469=) c.3637A= (p.Lys1213=) c.3589A= (p.Lys1197=) c.3358A= (p.Lys1120=) c.3259A= (p.Lys1087=) c.2440A= (p.Lys814=) n.3991A= | |
13 | g.51937608A>C | CA388022172 | ATP7B | c.*1421T>G (n.*1421T>G) c.*2515T>G (n.*2515T>G) c.3150T>G (p.Asn1050Lys) c.3771T>G (p.Asn1257Lys) c.3438T>G (p.Asn1146Lys) c.3519T>G (p.Asn1173Lys) n.1012T>G c.3537T>G (p.Asn1179Lys) n.3910T>G n.637T>G c.2706T>G (p.Asn902Lys) c.2481T>G (p.Asn827Lys) c.3576T>G (p.Asn1192Lys) c.1549T>G c.*872T>G (n.*872T>G) n.4515T>G n.3116T>G c.3627T>G (p.Asn1209Lys) c.3675T>G (p.Asn1225Lys) c.3735T>G (p.Asn1245Lys) c.3285T>G (p.Asn1095Lys) c.1587T>G (p.Asn529Lys) c.1404T>G (p.Asn468Lys) c.3636T>G (p.Asn1212Lys) c.3588T>G (p.Asn1196Lys) c.3357T>G (p.Asn1119Lys) c.3258T>G (p.Asn1086Lys) c.2439T>G (p.Asn813Lys) n.3990T>G | |
13 | g.51937608A>G | CA484024631 | ATP7B | c.*1421T>C (n.*1421T>C) c.*2515T>C (n.*2515T>C) c.3150T>C (p.Asn1050=) c.3771T>C (p.Asn1257=) c.3438T>C (p.Asn1146=) c.3519T>C (p.Asn1173=) n.1012T>C c.3537T>C (p.Asn1179=) n.3910T>C n.637T>C c.2706T>C (p.Asn902=) c.2481T>C (p.Asn827=) c.3576T>C (p.Asn1192=) c.1549T>C c.*872T>C (n.*872T>C) n.4515T>C n.3116T>C c.3627T>C (p.Asn1209=) c.3675T>C (p.Asn1225=) c.3735T>C (p.Asn1245=) c.3285T>C (p.Asn1095=) c.1587T>C (p.Asn529=) c.1404T>C (p.Asn468=) c.3636T>C (p.Asn1212=) c.3588T>C (p.Asn1196=) c.3357T>C (p.Asn1119=) c.3258T>C (p.Asn1086=) c.2439T>C (p.Asn813=) n.3990T>C | |
13 | g.51937608A>T | CA388022175 | ATP7B | c.*1421T>A (n.*1421T>A) c.*2515T>A (n.*2515T>A) c.3150T>A (p.Asn1050Lys) c.3771T>A (p.Asn1257Lys) c.3438T>A (p.Asn1146Lys) c.3519T>A (p.Asn1173Lys) n.1012T>A c.3537T>A (p.Asn1179Lys) n.3910T>A n.637T>A c.2706T>A (p.Asn902Lys) c.2481T>A (p.Asn827Lys) c.3576T>A (p.Asn1192Lys) c.1549T>A c.*872T>A (n.*872T>A) n.4515T>A n.3116T>A c.3627T>A (p.Asn1209Lys) c.3675T>A (p.Asn1225Lys) c.3735T>A (p.Asn1245Lys) c.3285T>A (p.Asn1095Lys) c.1587T>A (p.Asn529Lys) c.1404T>A (p.Asn468Lys) c.3636T>A (p.Asn1212Lys) c.3588T>A (p.Asn1196Lys) c.3357T>A (p.Asn1119Lys) c.3258T>A (p.Asn1086Lys) c.2439T>A (p.Asn813Lys) n.3990T>A | gnomAD v4 |
13 | g.51937608_51937609insC | CA2695218764 | ATP7B | c.*1420_*1421insG (n.*1420_*1421insG) c.*2514_*2515insG (n.*2514_*2515insG) c.3149_3150insG (p.Asn1050LysfsTer2) c.3770_3771insG (p.Asn1257LysfsTer2) c.3437_3438insG (p.Asn1146LysfsTer2) c.3518_3519insG (p.Asn1173LysfsTer2) n.1011_1012insG c.3536_3537insG (p.Asn1179LysfsTer2) n.3909_3910insG n.636_637insG c.2705_2706insG (p.Asn902LysfsTer2) c.2480_2481insG (p.Asn827LysfsTer2) c.3575_3576insG (p.Asn1192LysfsTer2) c.1548_1549insG c.*871_*872insG (n.*871_*872insG) n.4514_4515insG n.3115_3116insG c.3626_3627insG (p.Asn1209LysfsTer2) c.3674_3675insG (p.Asn1225LysfsTer2) c.3734_3735insG (p.Asn1245LysfsTer2) c.3284_3285insG (p.Asn1095LysfsTer2) c.1586_1587insG (p.Asn529LysfsTer2) c.1403_1404insG (p.Asn468LysfsTer2) c.3635_3636insG (p.Asn1212LysfsTer2) c.3587_3588insG (p.Asn1196LysfsTer2) c.3356_3357insG (p.Asn1119LysfsTer2) c.3257_3258insG (p.Asn1086LysfsTer2) c.2438_2439insG (p.Asn813LysfsTer2) n.3989_3990insG | |
13 | g.51937609T>A | CA388022176 | ATP7B | c.*1420A>T (n.*1420A>T) c.*2514A>T (n.*2514A>T) c.3149A>T (p.Asn1050Ile) c.3770A>T (p.Asn1257Ile) c.3437A>T (p.Asn1146Ile) c.3518A>T (p.Asn1173Ile) n.1011A>T c.3536A>T (p.Asn1179Ile) n.3909A>T n.636A>T c.2705A>T (p.Asn902Ile) c.2480A>T (p.Asn827Ile) c.3575A>T (p.Asn1192Ile) c.1548A>T c.*871A>T (n.*871A>T) n.4514A>T n.3115A>T c.3626A>T (p.Asn1209Ile) c.3674A>T (p.Asn1225Ile) c.3734A>T (p.Asn1245Ile) c.3284A>T (p.Asn1095Ile) c.1586A>T (p.Asn529Ile) c.1403A>T (p.Asn468Ile) c.3635A>T (p.Asn1212Ile) c.3587A>T (p.Asn1196Ile) c.3356A>T (p.Asn1119Ile) c.3257A>T (p.Asn1086Ile) c.2438A>T (p.Asn813Ile) n.3989A>T | |
13 | g.51937609T>C | CA388022179 | ATP7B | c.*1420A>G (n.*1420A>G) c.*2514A>G (n.*2514A>G) c.3149A>G (p.Asn1050Ser) c.3770A>G (p.Asn1257Ser) c.3437A>G (p.Asn1146Ser) c.3518A>G (p.Asn1173Ser) n.1011A>G c.3536A>G (p.Asn1179Ser) n.3909A>G n.636A>G c.2705A>G (p.Asn902Ser) c.2480A>G (p.Asn827Ser) c.3575A>G (p.Asn1192Ser) c.1548A>G c.*871A>G (n.*871A>G) n.4514A>G n.3115A>G c.3626A>G (p.Asn1209Ser) c.3674A>G (p.Asn1225Ser) c.3734A>G (p.Asn1245Ser) c.3284A>G (p.Asn1095Ser) c.1586A>G (p.Asn529Ser) c.1403A>G (p.Asn468Ser) c.3635A>G (p.Asn1212Ser) c.3587A>G (p.Asn1196Ser) c.3356A>G (p.Asn1119Ser) c.3257A>G (p.Asn1086Ser) c.2438A>G (p.Asn813Ser) n.3989A>G | dbSNP |
13 | g.51937609T>G | CA388022182 | ATP7B | c.*1420A>C (n.*1420A>C) c.*2514A>C (n.*2514A>C) c.3149A>C (p.Asn1050Thr) c.3770A>C (p.Asn1257Thr) c.3437A>C (p.Asn1146Thr) c.3518A>C (p.Asn1173Thr) n.1011A>C c.3536A>C (p.Asn1179Thr) n.3909A>C n.636A>C c.2705A>C (p.Asn902Thr) c.2480A>C (p.Asn827Thr) c.3575A>C (p.Asn1192Thr) c.1548A>C c.*871A>C (n.*871A>C) n.4514A>C n.3115A>C c.3626A>C (p.Asn1209Thr) c.3674A>C (p.Asn1225Thr) c.3734A>C (p.Asn1245Thr) c.3284A>C (p.Asn1095Thr) c.1586A>C (p.Asn529Thr) c.1403A>C (p.Asn468Thr) c.3635A>C (p.Asn1212Thr) c.3587A>C (p.Asn1196Thr) c.3356A>C (p.Asn1119Thr) c.3257A>C (p.Asn1086Thr) c.2438A>C (p.Asn813Thr) n.3989A>C | |
13 | g.51937609T= | CA2091554148 | ATP7B | c.*1420A= (n.*1420A=) c.*2514A= (n.*2514A=) c.3149A= (p.Asn1050=) c.3770A= (p.Asn1257=) c.3437A= (p.Asn1146=) c.3518A= (p.Asn1173=) n.1011A= c.3536A= (p.Asn1179=) n.3909A= n.636A= c.2705A= (p.Asn902=) c.2480A= (p.Asn827=) c.3575A= (p.Asn1192=) c.1548A= c.*871A= (n.*871A=) n.4514A= n.3115A= c.3626A= (p.Asn1209=) c.3674A= (p.Asn1225=) c.3734A= (p.Asn1245=) c.3284A= (p.Asn1095=) c.1586A= (p.Asn529=) c.1403A= (p.Asn468=) c.3635A= (p.Asn1212=) c.3587A= (p.Asn1196=) c.3356A= (p.Asn1119=) c.3257A= (p.Asn1086=) c.2438A= (p.Asn813=) n.3989A= | |
13 | g.51937610T>A | CA388022184 | ATP7B | c.*1419A>T (n.*1419A>T) c.*2513A>T (n.*2513A>T) c.3148A>T (p.Asn1050Tyr) c.3769A>T (p.Asn1257Tyr) c.3436A>T (p.Asn1146Tyr) c.3517A>T (p.Asn1173Tyr) n.1010A>T c.3535A>T (p.Asn1179Tyr) n.3908A>T n.635A>T c.2704A>T (p.Asn902Tyr) c.2479A>T (p.Asn827Tyr) c.3574A>T (p.Asn1192Tyr) c.1547A>T c.*870A>T (n.*870A>T) n.4513A>T n.3114A>T c.3625A>T (p.Asn1209Tyr) c.3673A>T (p.Asn1225Tyr) c.3733A>T (p.Asn1245Tyr) c.3283A>T (p.Asn1095Tyr) c.1585A>T (p.Asn529Tyr) c.1402A>T (p.Asn468Tyr) c.3634A>T (p.Asn1212Tyr) c.3586A>T (p.Asn1196Tyr) c.3355A>T (p.Asn1119Tyr) c.3256A>T (p.Asn1086Tyr) c.2437A>T (p.Asn813Tyr) n.3988A>T | |
13 | g.51937610T>C | CA388022186 | ATP7B | c.*1419A>G (n.*1419A>G) c.*2513A>G (n.*2513A>G) c.3148A>G (p.Asn1050Asp) c.3769A>G (p.Asn1257Asp) c.3436A>G (p.Asn1146Asp) c.3517A>G (p.Asn1173Asp) n.1010A>G c.3535A>G (p.Asn1179Asp) n.3908A>G n.635A>G c.2704A>G (p.Asn902Asp) c.2479A>G (p.Asn827Asp) c.3574A>G (p.Asn1192Asp) c.1547A>G c.*870A>G (n.*870A>G) n.4513A>G n.3114A>G c.3625A>G (p.Asn1209Asp) c.3673A>G (p.Asn1225Asp) c.3733A>G (p.Asn1245Asp) c.3283A>G (p.Asn1095Asp) c.1585A>G (p.Asn529Asp) c.1402A>G (p.Asn468Asp) c.3634A>G (p.Asn1212Asp) c.3586A>G (p.Asn1196Asp) c.3355A>G (p.Asn1119Asp) c.3256A>G (p.Asn1086Asp) c.2437A>G (p.Asn813Asp) n.3988A>G | |
13 | g.51937610T>G | CA388022189 | ATP7B | c.*1419A>C (n.*1419A>C) c.*2513A>C (n.*2513A>C) c.3148A>C (p.Asn1050His) c.3769A>C (p.Asn1257His) c.3436A>C (p.Asn1146His) c.3517A>C (p.Asn1173His) n.1010A>C c.3535A>C (p.Asn1179His) n.3908A>C n.635A>C c.2704A>C (p.Asn902His) c.2479A>C (p.Asn827His) c.3574A>C (p.Asn1192His) c.1547A>C c.*870A>C (n.*870A>C) n.4513A>C n.3114A>C c.3625A>C (p.Asn1209His) c.3673A>C (p.Asn1225His) c.3733A>C (p.Asn1245His) c.3283A>C (p.Asn1095His) c.1585A>C (p.Asn529His) c.1402A>C (p.Asn468His) c.3634A>C (p.Asn1212His) c.3586A>C (p.Asn1196His) c.3355A>C (p.Asn1119His) c.3256A>C (p.Asn1086His) c.2437A>C (p.Asn813His) n.3988A>C | |
13 | g.51937611C>A | CA388022191 | ATP7B | c.*1418G>T (n.*1418G>T) c.*2512G>T (n.*2512G>T) c.3147G>T (p.Gln1049His) c.3768G>T (p.Gln1256His) c.3435G>T (p.Gln1145His) c.3516G>T (p.Gln1172His) n.1009G>T c.3534G>T (p.Gln1178His) n.3907G>T n.634G>T c.2703G>T (p.Gln901His) c.2478G>T (p.Gln826His) c.3573G>T (p.Gln1191His) c.1546G>T c.*869G>T (n.*869G>T) n.4512G>T n.3113G>T c.3624G>T (p.Gln1208His) c.3672G>T (p.Gln1224His) c.3732G>T (p.Gln1244His) c.3282G>T (p.Gln1094His) c.1584G>T (p.Gln528His) c.1401G>T (p.Gln467His) c.3633G>T (p.Gln1211His) c.3585G>T (p.Gln1195His) c.3354G>T (p.Gln1118His) c.3255G>T (p.Gln1085His) c.2436G>T (p.Gln812His) n.3987G>T | |
13 | g.51937611C= | CA2091554150 | ATP7B | c.*1418G= (n.*1418G=) c.*2512G= (n.*2512G=) c.3147G= (p.Gln1049=) c.3768G= (p.Gln1256=) c.3435G= (p.Gln1145=) c.3516G= (p.Gln1172=) n.1009G= c.3534G= (p.Gln1178=) n.3907G= n.634G= c.2703G= (p.Gln901=) c.2478G= (p.Gln826=) c.3573G= (p.Gln1191=) c.1546G= c.*869G= (n.*869G=) n.4512G= n.3113G= c.3624G= (p.Gln1208=) c.3672G= (p.Gln1224=) c.3732G= (p.Gln1244=) c.3282G= (p.Gln1094=) c.1584G= (p.Gln528=) c.1401G= (p.Gln467=) c.3633G= (p.Gln1211=) c.3585G= (p.Gln1195=) c.3354G= (p.Gln1118=) c.3255G= (p.Gln1085=) c.2436G= (p.Gln812=) n.3987G= | |
13 | g.51937611C>G | CA388022192 | ATP7B | c.*1418G>C (n.*1418G>C) c.*2512G>C (n.*2512G>C) c.3147G>C (p.Gln1049His) c.3768G>C (p.Gln1256His) c.3435G>C (p.Gln1145His) c.3516G>C (p.Gln1172His) n.1009G>C c.3534G>C (p.Gln1178His) n.3907G>C n.634G>C c.2703G>C (p.Gln901His) c.2478G>C (p.Gln826His) c.3573G>C (p.Gln1191His) c.1546G>C c.*869G>C (n.*869G>C) n.4512G>C n.3113G>C c.3624G>C (p.Gln1208His) c.3672G>C (p.Gln1224His) c.3732G>C (p.Gln1244His) c.3282G>C (p.Gln1094His) c.1584G>C (p.Gln528His) c.1401G>C (p.Gln467His) c.3633G>C (p.Gln1211His) c.3585G>C (p.Gln1195His) c.3354G>C (p.Gln1118His) c.3255G>C (p.Gln1085His) c.2436G>C (p.Gln812His) n.3987G>C | |
13 | g.51937611C>T | CA484024636 | ATP7B | c.*1418G>A (n.*1418G>A) c.*2512G>A (n.*2512G>A) c.3147G>A (p.Gln1049=) c.3768G>A (p.Gln1256=) c.3435G>A (p.Gln1145=) c.3516G>A (p.Gln1172=) n.1009G>A c.3534G>A (p.Gln1178=) n.3907G>A n.634G>A c.2703G>A (p.Gln901=) c.2478G>A (p.Gln826=) c.3573G>A (p.Gln1191=) c.1546G>A c.*869G>A (n.*869G>A) n.4512G>A n.3113G>A c.3624G>A (p.Gln1208=) c.3672G>A (p.Gln1224=) c.3732G>A (p.Gln1244=) c.3282G>A (p.Gln1094=) c.1584G>A (p.Gln528=) c.1401G>A (p.Gln467=) c.3633G>A (p.Gln1211=) c.3585G>A (p.Gln1195=) c.3354G>A (p.Gln1118=) c.3255G>A (p.Gln1085=) c.2436G>A (p.Gln812=) n.3987G>A | |
13 | g.51937612T>A | CA388022195 | ATP7B | c.*1417A>T (n.*1417A>T) c.*2511A>T (n.*2511A>T) c.3146A>T (p.Gln1049Leu) c.3767A>T (p.Gln1256Leu) c.3434A>T (p.Gln1145Leu) c.3515A>T (p.Gln1172Leu) n.1008A>T c.3533A>T (p.Gln1178Leu) n.3906A>T n.633A>T c.2702A>T (p.Gln901Leu) c.2477A>T (p.Gln826Leu) c.3572A>T (p.Gln1191Leu) c.1545A>T c.*868A>T (n.*868A>T) n.4511A>T n.3112A>T c.3623A>T (p.Gln1208Leu) c.3671A>T (p.Gln1224Leu) c.3731A>T (p.Gln1244Leu) c.3281A>T (p.Gln1094Leu) c.1583A>T (p.Gln528Leu) c.1400A>T (p.Gln467Leu) c.3632A>T (p.Gln1211Leu) c.3584A>T (p.Gln1195Leu) c.3353A>T (p.Gln1118Leu) c.3254A>T (p.Gln1085Leu) c.2435A>T (p.Gln812Leu) n.3986A>T | |
13 | g.51937612T>C | CA388022193 | ATP7B | c.*1417A>G (n.*1417A>G) c.*2511A>G (n.*2511A>G) c.3146A>G (p.Gln1049Arg) c.3767A>G (p.Gln1256Arg) c.3434A>G (p.Gln1145Arg) c.3515A>G (p.Gln1172Arg) n.1008A>G c.3533A>G (p.Gln1178Arg) n.3906A>G n.633A>G c.2702A>G (p.Gln901Arg) c.2477A>G (p.Gln826Arg) c.3572A>G (p.Gln1191Arg) c.1545A>G c.*868A>G (n.*868A>G) n.4511A>G n.3112A>G c.3623A>G (p.Gln1208Arg) c.3671A>G (p.Gln1224Arg) c.3731A>G (p.Gln1244Arg) c.3281A>G (p.Gln1094Arg) c.1583A>G (p.Gln528Arg) c.1400A>G (p.Gln467Arg) c.3632A>G (p.Gln1211Arg) c.3584A>G (p.Gln1195Arg) c.3353A>G (p.Gln1118Arg) c.3254A>G (p.Gln1085Arg) c.2435A>G (p.Gln812Arg) n.3986A>G | ClinVar dbSNP |
13 | g.51937612T>G | CA388022194 | ATP7B | c.*1417A>C (n.*1417A>C) c.*2511A>C (n.*2511A>C) c.3146A>C (p.Gln1049Pro) c.3767A>C (p.Gln1256Pro) c.3434A>C (p.Gln1145Pro) c.3515A>C (p.Gln1172Pro) n.1008A>C c.3533A>C (p.Gln1178Pro) n.3906A>C n.633A>C c.2702A>C (p.Gln901Pro) c.2477A>C (p.Gln826Pro) c.3572A>C (p.Gln1191Pro) c.1545A>C c.*868A>C (n.*868A>C) n.4511A>C n.3112A>C c.3623A>C (p.Gln1208Pro) c.3671A>C (p.Gln1224Pro) c.3731A>C (p.Gln1244Pro) c.3281A>C (p.Gln1094Pro) c.1583A>C (p.Gln528Pro) c.1400A>C (p.Gln467Pro) c.3632A>C (p.Gln1211Pro) c.3584A>C (p.Gln1195Pro) c.3353A>C (p.Gln1118Pro) c.3254A>C (p.Gln1085Pro) c.2435A>C (p.Gln812Pro) n.3986A>C | |
13 | g.51937612T= | CA2091554157 | ATP7B | c.*1417A= (n.*1417A=) c.*2511A= (n.*2511A=) c.3146A= (p.Gln1049=) c.3767A= (p.Gln1256=) c.3434A= (p.Gln1145=) c.3515A= (p.Gln1172=) n.1008A= c.3533A= (p.Gln1178=) n.3906A= n.633A= c.2702A= (p.Gln901=) c.2477A= (p.Gln826=) c.3572A= (p.Gln1191=) c.1545A= c.*868A= (n.*868A=) n.4511A= n.3112A= c.3623A= (p.Gln1208=) c.3671A= (p.Gln1224=) c.3731A= (p.Gln1244=) c.3281A= (p.Gln1094=) c.1583A= (p.Gln528=) c.1400A= (p.Gln467=) c.3632A= (p.Gln1211=) c.3584A= (p.Gln1195=) c.3353A= (p.Gln1118=) c.3254A= (p.Gln1085=) c.2435A= (p.Gln812=) n.3986A= | |
13 | g.51937612_51937613dup | CA1139663298 | ATP7B | c.*1416_*1417dup (n.*1416_*1417dup) c.*2510_*2511dup (n.*2510_*2511dup) c.3145_3146dup (p.Gln1049HisfsTer?) c.3766_3767dup (p.Gln1256HisfsTer?) c.3433_3434dup (p.Gln1145HisfsTer?) c.3514_3515dup (p.Gln1172HisfsTer?) n.1007_1008dup c.3532_3533dup (p.Gln1178HisfsTer?) n.3905_3906dup n.632_633dup c.2701_2702dup (p.Gln901HisfsTer?) c.2476_2477dup (p.Gln826HisfsTer?) c.3571_3572dup (p.Gln1191HisfsTer?) c.1544_1545dup c.*867_*868dup (n.*867_*868dup) n.4510_4511dup n.3111_3112dup c.3622_3623dup (p.Gln1208HisfsTer?) c.3670_3671dup (p.Gln1224HisfsTer?) c.3730_3731dup (p.Gln1244HisfsTer?) c.3280_3281dup (p.Gln1094HisfsTer?) c.1582_1583dup (p.Gln528HisfsTer?) c.1399_1400dup (p.Gln467HisfsTer?) c.3631_3632dup (p.Gln1211HisfsTer?) c.3583_3584dup (p.Gln1195HisfsTer?) c.3352_3353dup (p.Gln1118HisfsTer?) c.3253_3254dup (p.Gln1085HisfsTer?) c.2434_2435dup (p.Gln812HisfsTer?) n.3985_3986dup | ClinVar dbSNP |
13 | g.51937613G>A | CA388022198 | ATP7B | c.*1416C>T (n.*1416C>T) c.*2510C>T (n.*2510C>T) c.3145C>T (p.Gln1049Ter) c.3766C>T (p.Gln1256Ter) c.3433C>T (p.Gln1145Ter) c.3514C>T (p.Gln1172Ter) n.1007C>T c.3532C>T (p.Gln1178Ter) n.3905C>T n.632C>T c.2701C>T (p.Gln901Ter) c.2476C>T (p.Gln826Ter) c.3571C>T (p.Gln1191Ter) c.1544C>T c.*867C>T (n.*867C>T) n.4510C>T n.3111C>T c.3622C>T (p.Gln1208Ter) c.3670C>T (p.Gln1224Ter) c.3730C>T (p.Gln1244Ter) c.3280C>T (p.Gln1094Ter) c.1582C>T (p.Gln528Ter) c.1399C>T (p.Gln467Ter) c.3631C>T (p.Gln1211Ter) c.3583C>T (p.Gln1195Ter) c.3352C>T (p.Gln1118Ter) c.3253C>T (p.Gln1085Ter) c.2434C>T (p.Gln812Ter) n.3985C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937613G>C | CA388022200 | ATP7B | c.*1416C>G (n.*1416C>G) c.*2510C>G (n.*2510C>G) c.3145C>G (p.Gln1049Glu) c.3766C>G (p.Gln1256Glu) c.3433C>G (p.Gln1145Glu) c.3514C>G (p.Gln1172Glu) n.1007C>G c.3532C>G (p.Gln1178Glu) n.3905C>G n.632C>G c.2701C>G (p.Gln901Glu) c.2476C>G (p.Gln826Glu) c.3571C>G (p.Gln1191Glu) c.1544C>G c.*867C>G (n.*867C>G) n.4510C>G n.3111C>G c.3622C>G (p.Gln1208Glu) c.3670C>G (p.Gln1224Glu) c.3730C>G (p.Gln1244Glu) c.3280C>G (p.Gln1094Glu) c.1582C>G (p.Gln528Glu) c.1399C>G (p.Gln467Glu) c.3631C>G (p.Gln1211Glu) c.3583C>G (p.Gln1195Glu) c.3352C>G (p.Gln1118Glu) c.3253C>G (p.Gln1085Glu) c.2434C>G (p.Gln812Glu) n.3985C>G | |
13 | g.51937613G= | CA2091554159 | ATP7B | c.*1416C= (n.*1416C=) c.*2510C= (n.*2510C=) c.3145C= (p.Gln1049=) c.3766C= (p.Gln1256=) c.3433C= (p.Gln1145=) c.3514C= (p.Gln1172=) n.1007C= c.3532C= (p.Gln1178=) n.3905C= n.632C= c.2701C= (p.Gln901=) c.2476C= (p.Gln826=) c.3571C= (p.Gln1191=) c.1544C= c.*867C= (n.*867C=) n.4510C= n.3111C= c.3622C= (p.Gln1208=) c.3670C= (p.Gln1224=) c.3730C= (p.Gln1244=) c.3280C= (p.Gln1094=) c.1582C= (p.Gln528=) c.1399C= (p.Gln467=) c.3631C= (p.Gln1211=) c.3583C= (p.Gln1195=) c.3352C= (p.Gln1118=) c.3253C= (p.Gln1085=) c.2434C= (p.Gln812=) n.3985C= | |
13 | g.51937613G>T | CA388022203 | ATP7B | c.*1416C>A (n.*1416C>A) c.*2510C>A (n.*2510C>A) c.3145C>A (p.Gln1049Lys) c.3766C>A (p.Gln1256Lys) c.3433C>A (p.Gln1145Lys) c.3514C>A (p.Gln1172Lys) n.1007C>A c.3532C>A (p.Gln1178Lys) n.3905C>A n.632C>A c.2701C>A (p.Gln901Lys) c.2476C>A (p.Gln826Lys) c.3571C>A (p.Gln1191Lys) c.1544C>A c.*867C>A (n.*867C>A) n.4510C>A n.3111C>A c.3622C>A (p.Gln1208Lys) c.3670C>A (p.Gln1224Lys) c.3730C>A (p.Gln1244Lys) c.3280C>A (p.Gln1094Lys) c.1582C>A (p.Gln528Lys) c.1399C>A (p.Gln467Lys) c.3631C>A (p.Gln1211Lys) c.3583C>A (p.Gln1195Lys) c.3352C>A (p.Gln1118Lys) c.3253C>A (p.Gln1085Lys) c.2434C>A (p.Gln812Lys) n.3985C>A | |
13 | g.51937614G>A | CA484024640 | ATP7B | c.*1415C>T (n.*1415C>T) c.*2509C>T (n.*2509C>T) c.3144C>T (p.Leu1048=) c.3765C>T (p.Leu1255=) c.3432C>T (p.Leu1144=) c.3513C>T (p.Leu1171=) n.1006C>T c.3531C>T (p.Leu1177=) n.3904C>T n.631C>T c.2700C>T (p.Leu900=) c.2475C>T (p.Leu825=) c.3570C>T (p.Leu1190=) c.1543C>T c.*866C>T (n.*866C>T) n.4509C>T n.3110C>T c.3621C>T (p.Leu1207=) c.3669C>T (p.Leu1223=) c.3729C>T (p.Leu1243=) c.3279C>T (p.Leu1093=) c.1581C>T (p.Leu527=) c.1398C>T (p.Leu466=) c.3630C>T (p.Leu1210=) c.3582C>T (p.Leu1194=) c.3351C>T (p.Leu1117=) c.3252C>T (p.Leu1084=) c.2433C>T (p.Leu811=) n.3984C>T | |
13 | g.51937614G>C | CA484024642 | ATP7B | c.*1415C>G (n.*1415C>G) c.*2509C>G (n.*2509C>G) c.3144C>G (p.Leu1048=) c.3765C>G (p.Leu1255=) c.3432C>G (p.Leu1144=) c.3513C>G (p.Leu1171=) n.1006C>G c.3531C>G (p.Leu1177=) n.3904C>G n.631C>G c.2700C>G (p.Leu900=) c.2475C>G (p.Leu825=) c.3570C>G (p.Leu1190=) c.1543C>G c.*866C>G (n.*866C>G) n.4509C>G n.3110C>G c.3621C>G (p.Leu1207=) c.3669C>G (p.Leu1223=) c.3729C>G (p.Leu1243=) c.3279C>G (p.Leu1093=) c.1581C>G (p.Leu527=) c.1398C>G (p.Leu466=) c.3630C>G (p.Leu1210=) c.3582C>G (p.Leu1194=) c.3351C>G (p.Leu1117=) c.3252C>G (p.Leu1084=) c.2433C>G (p.Leu811=) n.3984C>G | |
13 | g.51937614G>T | CA484024641 | ATP7B | c.*1415C>A (n.*1415C>A) c.*2509C>A (n.*2509C>A) c.3144C>A (p.Leu1048=) c.3765C>A (p.Leu1255=) c.3432C>A (p.Leu1144=) c.3513C>A (p.Leu1171=) n.1006C>A c.3531C>A (p.Leu1177=) n.3904C>A n.631C>A c.2700C>A (p.Leu900=) c.2475C>A (p.Leu825=) c.3570C>A (p.Leu1190=) c.1543C>A c.*866C>A (n.*866C>A) n.4509C>A n.3110C>A c.3621C>A (p.Leu1207=) c.3669C>A (p.Leu1223=) c.3729C>A (p.Leu1243=) c.3279C>A (p.Leu1093=) c.1581C>A (p.Leu527=) c.1398C>A (p.Leu466=) c.3630C>A (p.Leu1210=) c.3582C>A (p.Leu1194=) c.3351C>A (p.Leu1117=) c.3252C>A (p.Leu1084=) c.2433C>A (p.Leu811=) n.3984C>A | |
13 | g.51937615A>C | CA388022206 | ATP7B | c.*1414T>G (n.*1414T>G) c.*2508T>G (n.*2508T>G) c.3143T>G (p.Leu1048Arg) c.3764T>G (p.Leu1255Arg) c.3431T>G (p.Leu1144Arg) c.3512T>G (p.Leu1171Arg) n.1005T>G c.3530T>G (p.Leu1177Arg) n.3903T>G n.630T>G c.2699T>G (p.Leu900Arg) c.2474T>G (p.Leu825Arg) c.3569T>G (p.Leu1190Arg) c.1542T>G c.*865T>G (n.*865T>G) n.4508T>G n.3109T>G c.3620T>G (p.Leu1207Arg) c.3668T>G (p.Leu1223Arg) c.3728T>G (p.Leu1243Arg) c.3278T>G (p.Leu1093Arg) c.1580T>G (p.Leu527Arg) c.1397T>G (p.Leu466Arg) c.3629T>G (p.Leu1210Arg) c.3581T>G (p.Leu1194Arg) c.3350T>G (p.Leu1117Arg) c.3251T>G (p.Leu1084Arg) c.2432T>G (p.Leu811Arg) n.3983T>G | |
13 | g.51937615A>G | CA388022208 | ATP7B | c.*1414T>C (n.*1414T>C) c.*2508T>C (n.*2508T>C) c.3143T>C (p.Leu1048Pro) c.3764T>C (p.Leu1255Pro) c.3431T>C (p.Leu1144Pro) c.3512T>C (p.Leu1171Pro) n.1005T>C c.3530T>C (p.Leu1177Pro) n.3903T>C n.630T>C c.2699T>C (p.Leu900Pro) c.2474T>C (p.Leu825Pro) c.3569T>C (p.Leu1190Pro) c.1542T>C c.*865T>C (n.*865T>C) n.4508T>C n.3109T>C c.3620T>C (p.Leu1207Pro) c.3668T>C (p.Leu1223Pro) c.3728T>C (p.Leu1243Pro) c.3278T>C (p.Leu1093Pro) c.1580T>C (p.Leu527Pro) c.1397T>C (p.Leu466Pro) c.3629T>C (p.Leu1210Pro) c.3581T>C (p.Leu1194Pro) c.3350T>C (p.Leu1117Pro) c.3251T>C (p.Leu1084Pro) c.2432T>C (p.Leu811Pro) n.3983T>C | |
13 | g.51937615A>T | CA388022211 | ATP7B | c.*1414T>A (n.*1414T>A) c.*2508T>A (n.*2508T>A) c.3143T>A (p.Leu1048His) c.3764T>A (p.Leu1255His) c.3431T>A (p.Leu1144His) c.3512T>A (p.Leu1171His) n.1005T>A c.3530T>A (p.Leu1177His) n.3903T>A n.630T>A c.2699T>A (p.Leu900His) c.2474T>A (p.Leu825His) c.3569T>A (p.Leu1190His) c.1542T>A c.*865T>A (n.*865T>A) n.4508T>A n.3109T>A c.3620T>A (p.Leu1207His) c.3668T>A (p.Leu1223His) c.3728T>A (p.Leu1243His) c.3278T>A (p.Leu1093His) c.1580T>A (p.Leu527His) c.1397T>A (p.Leu466His) c.3629T>A (p.Leu1210His) c.3581T>A (p.Leu1194His) c.3350T>A (p.Leu1117His) c.3251T>A (p.Leu1084His) c.2432T>A (p.Leu811His) n.3983T>A | |
13 | g.51937616G>A | CA388022216 | ATP7B | c.*1413C>T (n.*1413C>T) c.*2507C>T (n.*2507C>T) c.3142C>T (p.Leu1048Phe) c.3763C>T (p.Leu1255Phe) c.3430C>T (p.Leu1144Phe) c.3511C>T (p.Leu1171Phe) n.1004C>T c.3529C>T (p.Leu1177Phe) n.3902C>T n.629C>T c.2698C>T (p.Leu900Phe) c.2473C>T (p.Leu825Phe) c.3568C>T (p.Leu1190Phe) c.1541C>T c.*864C>T (n.*864C>T) n.4507C>T n.3108C>T c.3619C>T (p.Leu1207Phe) c.3667C>T (p.Leu1223Phe) c.3727C>T (p.Leu1243Phe) c.3277C>T (p.Leu1093Phe) c.1579C>T (p.Leu527Phe) c.1396C>T (p.Leu466Phe) c.3628C>T (p.Leu1210Phe) c.3580C>T (p.Leu1194Phe) c.3349C>T (p.Leu1117Phe) c.3250C>T (p.Leu1084Phe) c.2431C>T (p.Leu811Phe) n.3982C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937616G>C | CA388022218 | ATP7B | c.*1413C>G (n.*1413C>G) c.*2507C>G (n.*2507C>G) c.3142C>G (p.Leu1048Val) c.3763C>G (p.Leu1255Val) c.3430C>G (p.Leu1144Val) c.3511C>G (p.Leu1171Val) n.1004C>G c.3529C>G (p.Leu1177Val) n.3902C>G n.629C>G c.2698C>G (p.Leu900Val) c.2473C>G (p.Leu825Val) c.3568C>G (p.Leu1190Val) c.1541C>G c.*864C>G (n.*864C>G) n.4507C>G n.3108C>G c.3619C>G (p.Leu1207Val) c.3667C>G (p.Leu1223Val) c.3727C>G (p.Leu1243Val) c.3277C>G (p.Leu1093Val) c.1579C>G (p.Leu527Val) c.1396C>G (p.Leu466Val) c.3628C>G (p.Leu1210Val) c.3580C>G (p.Leu1194Val) c.3349C>G (p.Leu1117Val) c.3250C>G (p.Leu1084Val) c.2431C>G (p.Leu811Val) n.3982C>G | |
13 | g.51937616G= | CA2091554165 | ATP7B | c.*1413C= (n.*1413C=) c.*2507C= (n.*2507C=) c.3142C= (p.Leu1048=) c.3763C= (p.Leu1255=) c.3430C= (p.Leu1144=) c.3511C= (p.Leu1171=) n.1004C= c.3529C= (p.Leu1177=) n.3902C= n.629C= c.2698C= (p.Leu900=) c.2473C= (p.Leu825=) c.3568C= (p.Leu1190=) c.1541C= c.*864C= (n.*864C=) n.4507C= n.3108C= c.3619C= (p.Leu1207=) c.3667C= (p.Leu1223=) c.3727C= (p.Leu1243=) c.3277C= (p.Leu1093=) c.1579C= (p.Leu527=) c.1396C= (p.Leu466=) c.3628C= (p.Leu1210=) c.3580C= (p.Leu1194=) c.3349C= (p.Leu1117=) c.3250C= (p.Leu1084=) c.2431C= (p.Leu811=) n.3982C= | |
13 | g.51937616G>T | CA388022220 | ATP7B | c.*1413C>A (n.*1413C>A) c.*2507C>A (n.*2507C>A) c.3142C>A (p.Leu1048Ile) c.3763C>A (p.Leu1255Ile) c.3430C>A (p.Leu1144Ile) c.3511C>A (p.Leu1171Ile) n.1004C>A c.3529C>A (p.Leu1177Ile) n.3902C>A n.629C>A c.2698C>A (p.Leu900Ile) c.2473C>A (p.Leu825Ile) c.3568C>A (p.Leu1190Ile) c.1541C>A c.*864C>A (n.*864C>A) n.4507C>A n.3108C>A c.3619C>A (p.Leu1207Ile) c.3667C>A (p.Leu1223Ile) c.3727C>A (p.Leu1243Ile) c.3277C>A (p.Leu1093Ile) c.1579C>A (p.Leu527Ile) c.1396C>A (p.Leu466Ile) c.3628C>A (p.Leu1210Ile) c.3580C>A (p.Leu1194Ile) c.3349C>A (p.Leu1117Ile) c.3250C>A (p.Leu1084Ile) c.2431C>A (p.Leu811Ile) n.3982C>A | |
13 | g.51937617C>A | CA388022223 | ATP7B | c.*1412G>T (n.*1412G>T) c.*2506G>T (n.*2506G>T) c.3141G>T (p.Glu1047Asp) c.3762G>T (p.Glu1254Asp) c.3429G>T (p.Glu1143Asp) c.3510G>T (p.Glu1170Asp) n.1003G>T c.3528G>T (p.Glu1176Asp) n.3901G>T n.628G>T c.2697G>T (p.Glu899Asp) c.2472G>T (p.Glu824Asp) c.3567G>T (p.Glu1189Asp) c.1540G>T c.*863G>T (n.*863G>T) n.4506G>T n.3107G>T c.3618G>T (p.Glu1206Asp) c.3666G>T (p.Glu1222Asp) c.3726G>T (p.Glu1242Asp) c.3276G>T (p.Glu1092Asp) c.1578G>T (p.Glu526Asp) c.1395G>T (p.Glu465Asp) c.3627G>T (p.Glu1209Asp) c.3579G>T (p.Glu1193Asp) c.3348G>T (p.Glu1116Asp) c.3249G>T (p.Glu1083Asp) c.2430G>T (p.Glu810Asp) n.3981G>T | |
13 | g.51937617C>G | CA388022226 | ATP7B | c.*1412G>C (n.*1412G>C) c.*2506G>C (n.*2506G>C) c.3141G>C (p.Glu1047Asp) c.3762G>C (p.Glu1254Asp) c.3429G>C (p.Glu1143Asp) c.3510G>C (p.Glu1170Asp) n.1003G>C c.3528G>C (p.Glu1176Asp) n.3901G>C n.628G>C c.2697G>C (p.Glu899Asp) c.2472G>C (p.Glu824Asp) c.3567G>C (p.Glu1189Asp) c.1540G>C c.*863G>C (n.*863G>C) n.4506G>C n.3107G>C c.3618G>C (p.Glu1206Asp) c.3666G>C (p.Glu1222Asp) c.3726G>C (p.Glu1242Asp) c.3276G>C (p.Glu1092Asp) c.1578G>C (p.Glu526Asp) c.1395G>C (p.Glu465Asp) c.3627G>C (p.Glu1209Asp) c.3579G>C (p.Glu1193Asp) c.3348G>C (p.Glu1116Asp) c.3249G>C (p.Glu1083Asp) c.2430G>C (p.Glu810Asp) n.3981G>C | |
13 | g.51937617C>T | CA484024648 | ATP7B | c.*1412G>A (n.*1412G>A) c.*2506G>A (n.*2506G>A) c.3141G>A (p.Glu1047=) c.3762G>A (p.Glu1254=) c.3429G>A (p.Glu1143=) c.3510G>A (p.Glu1170=) n.1003G>A c.3528G>A (p.Glu1176=) n.3901G>A n.628G>A c.2697G>A (p.Glu899=) c.2472G>A (p.Glu824=) c.3567G>A (p.Glu1189=) c.1540G>A c.*863G>A (n.*863G>A) n.4506G>A n.3107G>A c.3618G>A (p.Glu1206=) c.3666G>A (p.Glu1222=) c.3726G>A (p.Glu1242=) c.3276G>A (p.Glu1092=) c.1578G>A (p.Glu526=) c.1395G>A (p.Glu465=) c.3627G>A (p.Glu1209=) c.3579G>A (p.Glu1193=) c.3348G>A (p.Glu1116=) c.3249G>A (p.Glu1083=) c.2430G>A (p.Glu810=) n.3981G>A | |
13 | g.51937618T>A | CA388022230 | ATP7B | c.*1411A>T (n.*1411A>T) c.*2505A>T (n.*2505A>T) c.3140A>T (p.Glu1047Val) c.3761A>T (p.Glu1254Val) c.3428A>T (p.Glu1143Val) c.3509A>T (p.Glu1170Val) n.1002A>T c.3527A>T (p.Glu1176Val) n.3900A>T n.627A>T c.2696A>T (p.Glu899Val) c.2471A>T (p.Glu824Val) c.3566A>T (p.Glu1189Val) c.1539A>T c.*862A>T (n.*862A>T) n.4505A>T n.3106A>T c.3617A>T (p.Glu1206Val) c.3665A>T (p.Glu1222Val) c.3725A>T (p.Glu1242Val) c.3275A>T (p.Glu1092Val) c.1577A>T (p.Glu526Val) c.1394A>T (p.Glu465Val) c.3626A>T (p.Glu1209Val) c.3578A>T (p.Glu1193Val) c.3347A>T (p.Glu1116Val) c.3248A>T (p.Glu1083Val) c.2429A>T (p.Glu810Val) n.3980A>T | |
13 | g.51937618T>C | CA388022235 | ATP7B | c.*1411A>G (n.*1411A>G) c.*2505A>G (n.*2505A>G) c.3140A>G (p.Glu1047Gly) c.3761A>G (p.Glu1254Gly) c.3428A>G (p.Glu1143Gly) c.3509A>G (p.Glu1170Gly) n.1002A>G c.3527A>G (p.Glu1176Gly) n.3900A>G n.627A>G c.2696A>G (p.Glu899Gly) c.2471A>G (p.Glu824Gly) c.3566A>G (p.Glu1189Gly) c.1539A>G c.*862A>G (n.*862A>G) n.4505A>G n.3106A>G c.3617A>G (p.Glu1206Gly) c.3665A>G (p.Glu1222Gly) c.3725A>G (p.Glu1242Gly) c.3275A>G (p.Glu1092Gly) c.1577A>G (p.Glu526Gly) c.1394A>G (p.Glu465Gly) c.3626A>G (p.Glu1209Gly) c.3578A>G (p.Glu1193Gly) c.3347A>G (p.Glu1116Gly) c.3248A>G (p.Glu1083Gly) c.2429A>G (p.Glu810Gly) n.3980A>G | |
13 | g.51937618T>G | CA388022233 | ATP7B | c.*1411A>C (n.*1411A>C) c.*2505A>C (n.*2505A>C) c.3140A>C (p.Glu1047Ala) c.3761A>C (p.Glu1254Ala) c.3428A>C (p.Glu1143Ala) c.3509A>C (p.Glu1170Ala) n.1002A>C c.3527A>C (p.Glu1176Ala) n.3900A>C n.627A>C c.2696A>C (p.Glu899Ala) c.2471A>C (p.Glu824Ala) c.3566A>C (p.Glu1189Ala) c.1539A>C c.*862A>C (n.*862A>C) n.4505A>C n.3106A>C c.3617A>C (p.Glu1206Ala) c.3665A>C (p.Glu1222Ala) c.3725A>C (p.Glu1242Ala) c.3275A>C (p.Glu1092Ala) c.1577A>C (p.Glu526Ala) c.1394A>C (p.Glu465Ala) c.3626A>C (p.Glu1209Ala) c.3578A>C (p.Glu1193Ala) c.3347A>C (p.Glu1116Ala) c.3248A>C (p.Glu1083Ala) c.2429A>C (p.Glu810Ala) n.3980A>C | |
13 | g.51937619C>A | CA388022239 | ATP7B | c.*1410G>T (n.*1410G>T) c.*2504G>T (n.*2504G>T) c.3139G>T (p.Glu1047Ter) c.3760G>T (p.Glu1254Ter) c.3427G>T (p.Glu1143Ter) c.3508G>T (p.Glu1170Ter) n.1001G>T c.3526G>T (p.Glu1176Ter) n.3899G>T n.626G>T c.2695G>T (p.Glu899Ter) c.2470G>T (p.Glu824Ter) c.3565G>T (p.Glu1189Ter) c.1538G>T c.*861G>T (n.*861G>T) n.4504G>T n.3105G>T c.3616G>T (p.Glu1206Ter) c.3664G>T (p.Glu1222Ter) c.3724G>T (p.Glu1242Ter) c.3274G>T (p.Glu1092Ter) c.1576G>T (p.Glu526Ter) c.1393G>T (p.Glu465Ter) c.3625G>T (p.Glu1209Ter) c.3577G>T (p.Glu1193Ter) c.3346G>T (p.Glu1116Ter) c.3247G>T (p.Glu1083Ter) c.2428G>T (p.Glu810Ter) n.3979G>T | |
13 | g.51937619C= | CA2091554169 | ATP7B | c.*1410G= (n.*1410G=) c.*2504G= (n.*2504G=) c.3139G= (p.Glu1047=) c.3760G= (p.Glu1254=) c.3427G= (p.Glu1143=) c.3508G= (p.Glu1170=) n.1001G= c.3526G= (p.Glu1176=) n.3899G= n.626G= c.2695G= (p.Glu899=) c.2470G= (p.Glu824=) c.3565G= (p.Glu1189=) c.1538G= c.*861G= (n.*861G=) n.4504G= n.3105G= c.3616G= (p.Glu1206=) c.3664G= (p.Glu1222=) c.3724G= (p.Glu1242=) c.3274G= (p.Glu1092=) c.1576G= (p.Glu526=) c.1393G= (p.Glu465=) c.3625G= (p.Glu1209=) c.3577G= (p.Glu1193=) c.3346G= (p.Glu1116=) c.3247G= (p.Glu1083=) c.2428G= (p.Glu810=) n.3979G= | |
13 | g.51937619C>G | CA388022245 | ATP7B | c.*1410G>C (n.*1410G>C) c.*2504G>C (n.*2504G>C) c.3139G>C (p.Glu1047Gln) c.3760G>C (p.Glu1254Gln) c.3427G>C (p.Glu1143Gln) c.3508G>C (p.Glu1170Gln) n.1001G>C c.3526G>C (p.Glu1176Gln) n.3899G>C n.626G>C c.2695G>C (p.Glu899Gln) c.2470G>C (p.Glu824Gln) c.3565G>C (p.Glu1189Gln) c.1538G>C c.*861G>C (n.*861G>C) n.4504G>C n.3105G>C c.3616G>C (p.Glu1206Gln) c.3664G>C (p.Glu1222Gln) c.3724G>C (p.Glu1242Gln) c.3274G>C (p.Glu1092Gln) c.1576G>C (p.Glu526Gln) c.1393G>C (p.Glu465Gln) c.3625G>C (p.Glu1209Gln) c.3577G>C (p.Glu1193Gln) c.3346G>C (p.Glu1116Gln) c.3247G>C (p.Glu1083Gln) c.2428G>C (p.Glu810Gln) n.3979G>C | |
13 | g.51937619C>T | CA250073759 | ATP7B | c.*1410G>A (n.*1410G>A) c.*2504G>A (n.*2504G>A) c.3139G>A (p.Glu1047Lys) c.3760G>A (p.Glu1254Lys) c.3427G>A (p.Glu1143Lys) c.3508G>A (p.Glu1170Lys) n.1001G>A c.3526G>A (p.Glu1176Lys) n.3899G>A n.626G>A c.2695G>A (p.Glu899Lys) c.2470G>A (p.Glu824Lys) c.3565G>A (p.Glu1189Lys) c.1538G>A c.*861G>A (n.*861G>A) n.4504G>A n.3105G>A c.3616G>A (p.Glu1206Lys) c.3664G>A (p.Glu1222Lys) c.3724G>A (p.Glu1242Lys) c.3274G>A (p.Glu1092Lys) c.1576G>A (p.Glu526Lys) c.1393G>A (p.Glu465Lys) c.3625G>A (p.Glu1209Lys) c.3577G>A (p.Glu1193Lys) c.3346G>A (p.Glu1116Lys) c.3247G>A (p.Glu1083Lys) c.2428G>A (p.Glu810Lys) n.3979G>A | dbSNP |
13 | g.51937620C>A | CA388022246 | ATP7B | c.*1409G>T (n.*1409G>T) c.*2503G>T (n.*2503G>T) c.3138G>T (p.Gln1046His) c.3759G>T (p.Gln1253His) c.3426G>T (p.Gln1142His) c.3507G>T (p.Gln1169His) n.1000G>T c.3525G>T (p.Gln1175His) n.3898G>T n.625G>T c.2694G>T (p.Gln898His) c.2469G>T (p.Gln823His) c.3564G>T (p.Gln1188His) c.1537G>T c.*860G>T (n.*860G>T) n.4503G>T n.3104G>T c.3615G>T (p.Gln1205His) c.3663G>T (p.Gln1221His) c.3723G>T (p.Gln1241His) c.3273G>T (p.Gln1091His) c.1575G>T (p.Gln525His) c.1392G>T (p.Gln464His) c.3624G>T (p.Gln1208His) c.3576G>T (p.Gln1192His) c.3345G>T (p.Gln1115His) c.3246G>T (p.Gln1082His) c.2427G>T (p.Gln809His) n.3978G>T | |
13 | g.51937620C>G | CA388022248 | ATP7B | c.*1409G>C (n.*1409G>C) c.*2503G>C (n.*2503G>C) c.3138G>C (p.Gln1046His) c.3759G>C (p.Gln1253His) c.3426G>C (p.Gln1142His) c.3507G>C (p.Gln1169His) n.1000G>C c.3525G>C (p.Gln1175His) n.3898G>C n.625G>C c.2694G>C (p.Gln898His) c.2469G>C (p.Gln823His) c.3564G>C (p.Gln1188His) c.1537G>C c.*860G>C (n.*860G>C) n.4503G>C n.3104G>C c.3615G>C (p.Gln1205His) c.3663G>C (p.Gln1221His) c.3723G>C (p.Gln1241His) c.3273G>C (p.Gln1091His) c.1575G>C (p.Gln525His) c.1392G>C (p.Gln464His) c.3624G>C (p.Gln1208His) c.3576G>C (p.Gln1192His) c.3345G>C (p.Gln1115His) c.3246G>C (p.Gln1082His) c.2427G>C (p.Gln809His) n.3978G>C | |
13 | g.51937620C>T | CA484024659 | ATP7B | c.*1409G>A (n.*1409G>A) c.*2503G>A (n.*2503G>A) c.3138G>A (p.Gln1046=) c.3759G>A (p.Gln1253=) c.3426G>A (p.Gln1142=) c.3507G>A (p.Gln1169=) n.1000G>A c.3525G>A (p.Gln1175=) n.3898G>A n.625G>A c.2694G>A (p.Gln898=) c.2469G>A (p.Gln823=) c.3564G>A (p.Gln1188=) c.1537G>A c.*860G>A (n.*860G>A) n.4503G>A n.3104G>A c.3615G>A (p.Gln1205=) c.3663G>A (p.Gln1221=) c.3723G>A (p.Gln1241=) c.3273G>A (p.Gln1091=) c.1575G>A (p.Gln525=) c.1392G>A (p.Gln464=) c.3624G>A (p.Gln1208=) c.3576G>A (p.Gln1192=) c.3345G>A (p.Gln1115=) c.3246G>A (p.Gln1082=) c.2427G>A (p.Gln809=) n.3978G>A | |
13 | g.51937621T>A | CA388022252 | ATP7B | c.*1408A>T (n.*1408A>T) c.*2502A>T (n.*2502A>T) c.3137A>T (p.Gln1046Leu) c.3758A>T (p.Gln1253Leu) c.3425A>T (p.Gln1142Leu) c.3506A>T (p.Gln1169Leu) n.999A>T c.3524A>T (p.Gln1175Leu) n.3897A>T n.624A>T c.2693A>T (p.Gln898Leu) c.2468A>T (p.Gln823Leu) c.3563A>T (p.Gln1188Leu) c.1536A>T c.*859A>T (n.*859A>T) n.4502A>T n.3103A>T c.3614A>T (p.Gln1205Leu) c.3662A>T (p.Gln1221Leu) c.3722A>T (p.Gln1241Leu) c.3272A>T (p.Gln1091Leu) c.1574A>T (p.Gln525Leu) c.1391A>T (p.Gln464Leu) c.3623A>T (p.Gln1208Leu) c.3575A>T (p.Gln1192Leu) c.3344A>T (p.Gln1115Leu) c.3245A>T (p.Gln1082Leu) c.2426A>T (p.Gln809Leu) n.3977A>T | |
13 | g.51937621T>C | CA388022255 | ATP7B | c.*1408A>G (n.*1408A>G) c.*2502A>G (n.*2502A>G) c.3137A>G (p.Gln1046Arg) c.3758A>G (p.Gln1253Arg) c.3425A>G (p.Gln1142Arg) c.3506A>G (p.Gln1169Arg) n.999A>G c.3524A>G (p.Gln1175Arg) n.3897A>G n.624A>G c.2693A>G (p.Gln898Arg) c.2468A>G (p.Gln823Arg) c.3563A>G (p.Gln1188Arg) c.1536A>G c.*859A>G (n.*859A>G) n.4502A>G n.3103A>G c.3614A>G (p.Gln1205Arg) c.3662A>G (p.Gln1221Arg) c.3722A>G (p.Gln1241Arg) c.3272A>G (p.Gln1091Arg) c.1574A>G (p.Gln525Arg) c.1391A>G (p.Gln464Arg) c.3623A>G (p.Gln1208Arg) c.3575A>G (p.Gln1192Arg) c.3344A>G (p.Gln1115Arg) c.3245A>G (p.Gln1082Arg) c.2426A>G (p.Gln809Arg) n.3977A>G | |
13 | g.51937621T>G | CA388022257 | ATP7B | c.*1408A>C (n.*1408A>C) c.*2502A>C (n.*2502A>C) c.3137A>C (p.Gln1046Pro) c.3758A>C (p.Gln1253Pro) c.3425A>C (p.Gln1142Pro) c.3506A>C (p.Gln1169Pro) n.999A>C c.3524A>C (p.Gln1175Pro) n.3897A>C n.624A>C c.2693A>C (p.Gln898Pro) c.2468A>C (p.Gln823Pro) c.3563A>C (p.Gln1188Pro) c.1536A>C c.*859A>C (n.*859A>C) n.4502A>C n.3103A>C c.3614A>C (p.Gln1205Pro) c.3662A>C (p.Gln1221Pro) c.3722A>C (p.Gln1241Pro) c.3272A>C (p.Gln1091Pro) c.1574A>C (p.Gln525Pro) c.1391A>C (p.Gln464Pro) c.3623A>C (p.Gln1208Pro) c.3575A>C (p.Gln1192Pro) c.3344A>C (p.Gln1115Pro) c.3245A>C (p.Gln1082Pro) c.2426A>C (p.Gln809Pro) n.3977A>C | |
13 | g.51937622G>A | CA388022260 | ATP7B | c.*1407C>T (n.*1407C>T) c.*2501C>T (n.*2501C>T) c.3136C>T (p.Gln1046Ter) c.3757C>T (p.Gln1253Ter) c.3424C>T (p.Gln1142Ter) c.3505C>T (p.Gln1169Ter) n.998C>T c.3523C>T (p.Gln1175Ter) n.3896C>T n.623C>T c.2692C>T (p.Gln898Ter) c.2467C>T (p.Gln823Ter) c.3562C>T (p.Gln1188Ter) c.1535C>T c.*858C>T (n.*858C>T) n.4501C>T n.3102C>T c.3613C>T (p.Gln1205Ter) c.3661C>T (p.Gln1221Ter) c.3721C>T (p.Gln1241Ter) c.3271C>T (p.Gln1091Ter) c.1573C>T (p.Gln525Ter) c.1390C>T (p.Gln464Ter) c.3622C>T (p.Gln1208Ter) c.3574C>T (p.Gln1192Ter) c.3343C>T (p.Gln1115Ter) c.3244C>T (p.Gln1082Ter) c.2425C>T (p.Gln809Ter) n.3976C>T | ClinVar gnomAD v4 |
13 | g.51937622G>C | CA388022264 | ATP7B | c.*1407C>G (n.*1407C>G) c.*2501C>G (n.*2501C>G) c.3136C>G (p.Gln1046Glu) c.3757C>G (p.Gln1253Glu) c.3424C>G (p.Gln1142Glu) c.3505C>G (p.Gln1169Glu) n.998C>G c.3523C>G (p.Gln1175Glu) n.3896C>G n.623C>G c.2692C>G (p.Gln898Glu) c.2467C>G (p.Gln823Glu) c.3562C>G (p.Gln1188Glu) c.1535C>G c.*858C>G (n.*858C>G) n.4501C>G n.3102C>G c.3613C>G (p.Gln1205Glu) c.3661C>G (p.Gln1221Glu) c.3721C>G (p.Gln1241Glu) c.3271C>G (p.Gln1091Glu) c.1573C>G (p.Gln525Glu) c.1390C>G (p.Gln464Glu) c.3622C>G (p.Gln1208Glu) c.3574C>G (p.Gln1192Glu) c.3343C>G (p.Gln1115Glu) c.3244C>G (p.Gln1082Glu) c.2425C>G (p.Gln809Glu) n.3976C>G | |
13 | g.51937622G>T | CA388022267 | ATP7B | c.*1407C>A (n.*1407C>A) c.*2501C>A (n.*2501C>A) c.3136C>A (p.Gln1046Lys) c.3757C>A (p.Gln1253Lys) c.3424C>A (p.Gln1142Lys) c.3505C>A (p.Gln1169Lys) n.998C>A c.3523C>A (p.Gln1175Lys) n.3896C>A n.623C>A c.2692C>A (p.Gln898Lys) c.2467C>A (p.Gln823Lys) c.3562C>A (p.Gln1188Lys) c.1535C>A c.*858C>A (n.*858C>A) n.4501C>A n.3102C>A c.3613C>A (p.Gln1205Lys) c.3661C>A (p.Gln1221Lys) c.3721C>A (p.Gln1241Lys) c.3271C>A (p.Gln1091Lys) c.1573C>A (p.Gln525Lys) c.1390C>A (p.Gln464Lys) c.3622C>A (p.Gln1208Lys) c.3574C>A (p.Gln1192Lys) c.3343C>A (p.Gln1115Lys) c.3244C>A (p.Gln1082Lys) c.2425C>A (p.Gln809Lys) n.3976C>A | |
13 | g.51937623del | CA2623119326 | ATP7B | c.*1407del (n.*1407del) c.*2501del (n.*2501del) c.3136del (p.Gln1046ArgfsTer?) c.3757del (p.Gln1253ArgfsTer?) c.3424del (p.Gln1142ArgfsTer?) c.3505del (p.Gln1169ArgfsTer?) n.998del c.3523del (p.Gln1175ArgfsTer?) n.3896del n.623del c.2692del (p.Gln898ArgfsTer?) c.2467del (p.Gln823ArgfsTer?) c.3562del (p.Gln1188ArgfsTer?) c.1535del c.*858del (n.*858del) n.4501del n.3102del c.3613del (p.Gln1205ArgfsTer?) c.3661del (p.Gln1221ArgfsTer?) c.3721del (p.Gln1241ArgfsTer?) c.3271del (p.Gln1091ArgfsTer?) c.1573del (p.Gln525ArgfsTer?) c.1390del (p.Gln464ArgfsTer?) c.3622del (p.Gln1208ArgfsTer?) c.3574del (p.Gln1192ArgfsTer?) c.3343del (p.Gln1115ArgfsTer?) c.3244del (p.Gln1082ArgfsTer?) c.2425del (p.Gln809ArgfsTer?) n.3976del | gnomAD v4 |
13 | g.51937623G>A | CA484024665 | ATP7B | c.*1406C>T (n.*1406C>T) c.*2500C>T (n.*2500C>T) c.3135C>T (p.Val1045=) c.3756C>T (p.Val1252=) c.3423C>T (p.Val1141=) c.3504C>T (p.Val1168=) n.997C>T c.3522C>T (p.Val1174=) n.3895C>T n.622C>T c.2691C>T (p.Val897=) c.2466C>T (p.Val822=) c.3561C>T (p.Val1187=) c.1534C>T c.*857C>T (n.*857C>T) n.4500C>T n.3101C>T c.3612C>T (p.Val1204=) c.3660C>T (p.Val1220=) c.3720C>T (p.Val1240=) c.3270C>T (p.Val1090=) c.1572C>T (p.Val524=) c.1389C>T (p.Val463=) c.3621C>T (p.Val1207=) c.3573C>T (p.Val1191=) c.3342C>T (p.Val1114=) c.3243C>T (p.Val1081=) c.2424C>T (p.Val808=) n.3975C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937623G>C | CA484024667 | ATP7B | c.*1406C>G (n.*1406C>G) c.*2500C>G (n.*2500C>G) c.3135C>G (p.Val1045=) c.3756C>G (p.Val1252=) c.3423C>G (p.Val1141=) c.3504C>G (p.Val1168=) n.997C>G c.3522C>G (p.Val1174=) n.3895C>G n.622C>G c.2691C>G (p.Val897=) c.2466C>G (p.Val822=) c.3561C>G (p.Val1187=) c.1534C>G c.*857C>G (n.*857C>G) n.4500C>G n.3101C>G c.3612C>G (p.Val1204=) c.3660C>G (p.Val1220=) c.3720C>G (p.Val1240=) c.3270C>G (p.Val1090=) c.1572C>G (p.Val524=) c.1389C>G (p.Val463=) c.3621C>G (p.Val1207=) c.3573C>G (p.Val1191=) c.3342C>G (p.Val1114=) c.3243C>G (p.Val1081=) c.2424C>G (p.Val808=) n.3975C>G | |
13 | g.51937623G= | CA2091554173 | ATP7B | c.*1406C= (n.*1406C=) c.*2500C= (n.*2500C=) c.3135C= (p.Val1045=) c.3756C= (p.Val1252=) c.3423C= (p.Val1141=) c.3504C= (p.Val1168=) n.997C= c.3522C= (p.Val1174=) n.3895C= n.622C= c.2691C= (p.Val897=) c.2466C= (p.Val822=) c.3561C= (p.Val1187=) c.1534C= c.*857C= (n.*857C=) n.4500C= n.3101C= c.3612C= (p.Val1204=) c.3660C= (p.Val1220=) c.3720C= (p.Val1240=) c.3270C= (p.Val1090=) c.1572C= (p.Val524=) c.1389C= (p.Val463=) c.3621C= (p.Val1207=) c.3573C= (p.Val1191=) c.3342C= (p.Val1114=) c.3243C= (p.Val1081=) c.2424C= (p.Val808=) n.3975C= | |
13 | g.51937623G>T | CA484024670 | ATP7B | c.*1406C>A (n.*1406C>A) c.*2500C>A (n.*2500C>A) c.3135C>A (p.Val1045=) c.3756C>A (p.Val1252=) c.3423C>A (p.Val1141=) c.3504C>A (p.Val1168=) n.997C>A c.3522C>A (p.Val1174=) n.3895C>A n.622C>A c.2691C>A (p.Val897=) c.2466C>A (p.Val822=) c.3561C>A (p.Val1187=) c.1534C>A c.*857C>A (n.*857C>A) n.4500C>A n.3101C>A c.3612C>A (p.Val1204=) c.3660C>A (p.Val1220=) c.3720C>A (p.Val1240=) c.3270C>A (p.Val1090=) c.1572C>A (p.Val524=) c.1389C>A (p.Val463=) c.3621C>A (p.Val1207=) c.3573C>A (p.Val1191=) c.3342C>A (p.Val1114=) c.3243C>A (p.Val1081=) c.2424C>A (p.Val808=) n.3975C>A | |
13 | g.51937624A>C | CA388022271 | ATP7B | c.*1405T>G (n.*1405T>G) c.*2499T>G (n.*2499T>G) c.3134T>G (p.Val1045Gly) c.3755T>G (p.Val1252Gly) c.3422T>G (p.Val1141Gly) c.3503T>G (p.Val1168Gly) n.996T>G c.3521T>G (p.Val1174Gly) n.3894T>G n.621T>G c.2690T>G (p.Val897Gly) c.2465T>G (p.Val822Gly) c.3560T>G (p.Val1187Gly) c.1533T>G c.*856T>G (n.*856T>G) n.4499T>G n.3100T>G c.3611T>G (p.Val1204Gly) c.3659T>G (p.Val1220Gly) c.3719T>G (p.Val1240Gly) c.3269T>G (p.Val1090Gly) c.1571T>G (p.Val524Gly) c.1388T>G (p.Val463Gly) c.3620T>G (p.Val1207Gly) c.3572T>G (p.Val1191Gly) c.3341T>G (p.Val1114Gly) c.3242T>G (p.Val1081Gly) c.2423T>G (p.Val808Gly) n.3974T>G | |
13 | g.51937624A>G | CA388022273 | ATP7B | c.*1405T>C (n.*1405T>C) c.*2499T>C (n.*2499T>C) c.3134T>C (p.Val1045Ala) c.3755T>C (p.Val1252Ala) c.3422T>C (p.Val1141Ala) c.3503T>C (p.Val1168Ala) n.996T>C c.3521T>C (p.Val1174Ala) n.3894T>C n.621T>C c.2690T>C (p.Val897Ala) c.2465T>C (p.Val822Ala) c.3560T>C (p.Val1187Ala) c.1533T>C c.*856T>C (n.*856T>C) n.4499T>C n.3100T>C c.3611T>C (p.Val1204Ala) c.3659T>C (p.Val1220Ala) c.3719T>C (p.Val1240Ala) c.3269T>C (p.Val1090Ala) c.1571T>C (p.Val524Ala) c.1388T>C (p.Val463Ala) c.3620T>C (p.Val1207Ala) c.3572T>C (p.Val1191Ala) c.3341T>C (p.Val1114Ala) c.3242T>C (p.Val1081Ala) c.2423T>C (p.Val808Ala) n.3974T>C | |
13 | g.51937624A>T | CA388022277 | ATP7B | c.*1405T>A (n.*1405T>A) c.*2499T>A (n.*2499T>A) c.3134T>A (p.Val1045Asp) c.3755T>A (p.Val1252Asp) c.3422T>A (p.Val1141Asp) c.3503T>A (p.Val1168Asp) n.996T>A c.3521T>A (p.Val1174Asp) n.3894T>A n.621T>A c.2690T>A (p.Val897Asp) c.2465T>A (p.Val822Asp) c.3560T>A (p.Val1187Asp) c.1533T>A c.*856T>A (n.*856T>A) n.4499T>A n.3100T>A c.3611T>A (p.Val1204Asp) c.3659T>A (p.Val1220Asp) c.3719T>A (p.Val1240Asp) c.3269T>A (p.Val1090Asp) c.1571T>A (p.Val524Asp) c.1388T>A (p.Val463Asp) c.3620T>A (p.Val1207Asp) c.3572T>A (p.Val1191Asp) c.3341T>A (p.Val1114Asp) c.3242T>A (p.Val1081Asp) c.2423T>A (p.Val808Asp) n.3974T>A | |
13 | g.51937625_51937626insTGATTTATAAC | CA2799207222 | ATP7B | c.*1405_*1406insTATAAATCAGT (n.*1405_*1406insTATAAATCAGT) c.*2499_*2500insTATAAATCAGT (n.*2499_*2500insTATAAATCAGT) c.3134_3135insTATAAATCAGT (p.Gln1046IlefsTer?) c.3755_3756insTATAAATCAGT (p.Gln1253IlefsTer?) c.3422_3423insTATAAATCAGT (p.Gln1142IlefsTer?) c.3503_3504insTATAAATCAGT (p.Gln1169IlefsTer?) n.996_997insTATAAATCAGT c.3521_3522insTATAAATCAGT (p.Gln1175IlefsTer?) n.3894_3895insTATAAATCAGT n.621_622insTATAAATCAGT c.2690_2691insTATAAATCAGT (p.Gln898IlefsTer?) c.2465_2466insTATAAATCAGT (p.Gln823IlefsTer?) c.3560_3561insTATAAATCAGT (p.Gln1188IlefsTer?) c.1533_1534insTATAAATCAGT c.*856_*857insTATAAATCAGT (n.*856_*857insTATAAATCAGT) n.4499_4500insTATAAATCAGT n.3100_3101insTATAAATCAGT c.3611_3612insTATAAATCAGT (p.Gln1205IlefsTer?) c.3659_3660insTATAAATCAGT (p.Gln1221IlefsTer?) c.3719_3720insTATAAATCAGT (p.Gln1241IlefsTer?) c.3269_3270insTATAAATCAGT (p.Gln1091IlefsTer?) c.1571_1572insTATAAATCAGT (p.Gln525IlefsTer?) c.1388_1389insTATAAATCAGT (p.Gln464IlefsTer?) c.3620_3621insTATAAATCAGT (p.Gln1208IlefsTer?) c.3572_3573insTATAAATCAGT (p.Gln1192IlefsTer?) c.3341_3342insTATAAATCAGT (p.Gln1115IlefsTer?) c.3242_3243insTATAAATCAGT (p.Gln1082IlefsTer?) c.2423_2424insTATAAATCAGT (p.Gln809IlefsTer?) n.3974_3975insTATAAATCAGT | |
13 | g.51937625C>A | CA388022291 | ATP7B | c.*1404G>T (n.*1404G>T) c.*2498G>T (n.*2498G>T) c.3133G>T (p.Val1045Phe) c.3754G>T (p.Val1252Phe) c.3421G>T (p.Val1141Phe) c.3502G>T (p.Val1168Phe) n.995G>T c.3520G>T (p.Val1174Phe) n.3893G>T n.620G>T c.2689G>T (p.Val897Phe) c.2464G>T (p.Val822Phe) c.3559G>T (p.Val1187Phe) c.1532G>T c.*855G>T (n.*855G>T) n.4498G>T n.3099G>T c.3610G>T (p.Val1204Phe) c.3658G>T (p.Val1220Phe) c.3718G>T (p.Val1240Phe) c.3268G>T (p.Val1090Phe) c.1570G>T (p.Val524Phe) c.1387G>T (p.Val463Phe) c.3619G>T (p.Val1207Phe) c.3571G>T (p.Val1191Phe) c.3340G>T (p.Val1114Phe) c.3241G>T (p.Val1081Phe) c.2422G>T (p.Val808Phe) n.3973G>T | |
13 | g.51937625C>G | CA388022286 | ATP7B | c.*1404G>C (n.*1404G>C) c.*2498G>C (n.*2498G>C) c.3133G>C (p.Val1045Leu) c.3754G>C (p.Val1252Leu) c.3421G>C (p.Val1141Leu) c.3502G>C (p.Val1168Leu) n.995G>C c.3520G>C (p.Val1174Leu) n.3893G>C n.620G>C c.2689G>C (p.Val897Leu) c.2464G>C (p.Val822Leu) c.3559G>C (p.Val1187Leu) c.1532G>C c.*855G>C (n.*855G>C) n.4498G>C n.3099G>C c.3610G>C (p.Val1204Leu) c.3658G>C (p.Val1220Leu) c.3718G>C (p.Val1240Leu) c.3268G>C (p.Val1090Leu) c.1570G>C (p.Val524Leu) c.1387G>C (p.Val463Leu) c.3619G>C (p.Val1207Leu) c.3571G>C (p.Val1191Leu) c.3340G>C (p.Val1114Leu) c.3241G>C (p.Val1081Leu) c.2422G>C (p.Val808Leu) n.3973G>C | |
13 | g.51937625C>T | CA388022283 | ATP7B | c.*1404G>A (n.*1404G>A) c.*2498G>A (n.*2498G>A) c.3133G>A (p.Val1045Ile) c.3754G>A (p.Val1252Ile) c.3421G>A (p.Val1141Ile) c.3502G>A (p.Val1168Ile) n.995G>A c.3520G>A (p.Val1174Ile) n.3893G>A n.620G>A c.2689G>A (p.Val897Ile) c.2464G>A (p.Val822Ile) c.3559G>A (p.Val1187Ile) c.1532G>A c.*855G>A (n.*855G>A) n.4498G>A n.3099G>A c.3610G>A (p.Val1204Ile) c.3658G>A (p.Val1220Ile) c.3718G>A (p.Val1240Ile) c.3268G>A (p.Val1090Ile) c.1570G>A (p.Val524Ile) c.1387G>A (p.Val463Ile) c.3619G>A (p.Val1207Ile) c.3571G>A (p.Val1191Ile) c.3340G>A (p.Val1114Ile) c.3241G>A (p.Val1081Ile) c.2422G>A (p.Val808Ile) n.3973G>A | |
13 | g.51937626C>A | CA388022292 | ATP7B | c.*1403G>T (n.*1403G>T) c.*2497G>T (n.*2497G>T) c.3132G>T (p.Lys1044Asn) c.3753G>T (p.Lys1251Asn) c.3420G>T (p.Lys1140Asn) c.3501G>T (p.Lys1167Asn) n.994G>T c.3519G>T (p.Lys1173Asn) n.3892G>T n.619G>T c.2688G>T (p.Lys896Asn) c.2463G>T (p.Lys821Asn) c.3558G>T (p.Lys1186Asn) c.1531G>T c.*854G>T (n.*854G>T) n.4497G>T n.3098G>T c.3609G>T (p.Lys1203Asn) c.3657G>T (p.Lys1219Asn) c.3717G>T (p.Lys1239Asn) c.3267G>T (p.Lys1089Asn) c.1569G>T (p.Lys523Asn) c.1386G>T (p.Lys462Asn) c.3618G>T (p.Lys1206Asn) c.3570G>T (p.Lys1190Asn) c.3339G>T (p.Lys1113Asn) c.3240G>T (p.Lys1080Asn) c.2421G>T (p.Lys807Asn) n.3972G>T | |
13 | g.51937626C= | CA2091554177 | ATP7B | c.*1403G= (n.*1403G=) c.*2497G= (n.*2497G=) c.3132G= (p.Lys1044=) c.3753G= (p.Lys1251=) c.3420G= (p.Lys1140=) c.3501G= (p.Lys1167=) n.994G= c.3519G= (p.Lys1173=) n.3892G= n.619G= c.2688G= (p.Lys896=) c.2463G= (p.Lys821=) c.3558G= (p.Lys1186=) c.1531G= c.*854G= (n.*854G=) n.4497G= n.3098G= c.3609G= (p.Lys1203=) c.3657G= (p.Lys1219=) c.3717G= (p.Lys1239=) c.3267G= (p.Lys1089=) c.1569G= (p.Lys523=) c.1386G= (p.Lys462=) c.3618G= (p.Lys1206=) c.3570G= (p.Lys1190=) c.3339G= (p.Lys1113=) c.3240G= (p.Lys1080=) c.2421G= (p.Lys807=) n.3972G= | |
13 | g.51937626C>G | CA388022296 | ATP7B | c.*1403G>C (n.*1403G>C) c.*2497G>C (n.*2497G>C) c.3132G>C (p.Lys1044Asn) c.3753G>C (p.Lys1251Asn) c.3420G>C (p.Lys1140Asn) c.3501G>C (p.Lys1167Asn) n.994G>C c.3519G>C (p.Lys1173Asn) n.3892G>C n.619G>C c.2688G>C (p.Lys896Asn) c.2463G>C (p.Lys821Asn) c.3558G>C (p.Lys1186Asn) c.1531G>C c.*854G>C (n.*854G>C) n.4497G>C n.3098G>C c.3609G>C (p.Lys1203Asn) c.3657G>C (p.Lys1219Asn) c.3717G>C (p.Lys1239Asn) c.3267G>C (p.Lys1089Asn) c.1569G>C (p.Lys523Asn) c.1386G>C (p.Lys462Asn) c.3618G>C (p.Lys1206Asn) c.3570G>C (p.Lys1190Asn) c.3339G>C (p.Lys1113Asn) c.3240G>C (p.Lys1080Asn) c.2421G>C (p.Lys807Asn) n.3972G>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937626C>T | CA484024674 | ATP7B | c.*1403G>A (n.*1403G>A) c.*2497G>A (n.*2497G>A) c.3132G>A (p.Lys1044=) c.3753G>A (p.Lys1251=) c.3420G>A (p.Lys1140=) c.3501G>A (p.Lys1167=) n.994G>A c.3519G>A (p.Lys1173=) n.3892G>A n.619G>A c.2688G>A (p.Lys896=) c.2463G>A (p.Lys821=) c.3558G>A (p.Lys1186=) c.1531G>A c.*854G>A (n.*854G>A) n.4497G>A n.3098G>A c.3609G>A (p.Lys1203=) c.3657G>A (p.Lys1219=) c.3717G>A (p.Lys1239=) c.3267G>A (p.Lys1089=) c.1569G>A (p.Lys523=) c.1386G>A (p.Lys462=) c.3618G>A (p.Lys1206=) c.3570G>A (p.Lys1190=) c.3339G>A (p.Lys1113=) c.3240G>A (p.Lys1080=) c.2421G>A (p.Lys807=) n.3972G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937627T>A | CA388022302 | ATP7B | c.*1402A>T (n.*1402A>T) c.*2496A>T (n.*2496A>T) c.3131A>T (p.Lys1044Met) c.3752A>T (p.Lys1251Met) c.3419A>T (p.Lys1140Met) c.3500A>T (p.Lys1167Met) n.993A>T c.3518A>T (p.Lys1173Met) n.3891A>T n.618A>T c.2687A>T (p.Lys896Met) c.2462A>T (p.Lys821Met) c.3557A>T (p.Lys1186Met) c.1530A>T c.*853A>T (n.*853A>T) n.4496A>T n.3097A>T c.3608A>T (p.Lys1203Met) c.3656A>T (p.Lys1219Met) c.3716A>T (p.Lys1239Met) c.3266A>T (p.Lys1089Met) c.1568A>T (p.Lys523Met) c.1385A>T (p.Lys462Met) c.3617A>T (p.Lys1206Met) c.3569A>T (p.Lys1190Met) c.3338A>T (p.Lys1113Met) c.3239A>T (p.Lys1080Met) c.2420A>T (p.Lys807Met) n.3971A>T | ClinVar gnomAD v4 |
13 | g.51937627T>C | CA388022303 | ATP7B | c.*1402A>G (n.*1402A>G) c.*2496A>G (n.*2496A>G) c.3131A>G (p.Lys1044Arg) c.3752A>G (p.Lys1251Arg) c.3419A>G (p.Lys1140Arg) c.3500A>G (p.Lys1167Arg) n.993A>G c.3518A>G (p.Lys1173Arg) n.3891A>G n.618A>G c.2687A>G (p.Lys896Arg) c.2462A>G (p.Lys821Arg) c.3557A>G (p.Lys1186Arg) c.1530A>G c.*853A>G (n.*853A>G) n.4496A>G n.3097A>G c.3608A>G (p.Lys1203Arg) c.3656A>G (p.Lys1219Arg) c.3716A>G (p.Lys1239Arg) c.3266A>G (p.Lys1089Arg) c.1568A>G (p.Lys523Arg) c.1385A>G (p.Lys462Arg) c.3617A>G (p.Lys1206Arg) c.3569A>G (p.Lys1190Arg) c.3338A>G (p.Lys1113Arg) c.3239A>G (p.Lys1080Arg) c.2420A>G (p.Lys807Arg) n.3971A>G | |
13 | g.51937627T>G | CA388022304 | ATP7B | c.*1402A>C (n.*1402A>C) c.*2496A>C (n.*2496A>C) c.3131A>C (p.Lys1044Thr) c.3752A>C (p.Lys1251Thr) c.3419A>C (p.Lys1140Thr) c.3500A>C (p.Lys1167Thr) n.993A>C c.3518A>C (p.Lys1173Thr) n.3891A>C n.618A>C c.2687A>C (p.Lys896Thr) c.2462A>C (p.Lys821Thr) c.3557A>C (p.Lys1186Thr) c.1530A>C c.*853A>C (n.*853A>C) n.4496A>C n.3097A>C c.3608A>C (p.Lys1203Thr) c.3656A>C (p.Lys1219Thr) c.3716A>C (p.Lys1239Thr) c.3266A>C (p.Lys1089Thr) c.1568A>C (p.Lys523Thr) c.1385A>C (p.Lys462Thr) c.3617A>C (p.Lys1206Thr) c.3569A>C (p.Lys1190Thr) c.3338A>C (p.Lys1113Thr) c.3239A>C (p.Lys1080Thr) c.2420A>C (p.Lys807Thr) n.3971A>C | |
13 | g.51937628del | CA2499222487 | ATP7B | c.*1402del (n.*1402del) c.*2496del (n.*2496del) c.3131del (p.Lys1044ArgfsTer?) c.3752del (p.Lys1251ArgfsTer?) c.3419del (p.Lys1140ArgfsTer?) c.3500del (p.Lys1167ArgfsTer?) n.993del c.3518del (p.Lys1173ArgfsTer?) n.3891del n.618del c.2687del (p.Lys896ArgfsTer?) c.2462del (p.Lys821ArgfsTer?) c.3557del (p.Lys1186ArgfsTer?) c.1530del c.*853del (n.*853del) n.4496del n.3097del c.3608del (p.Lys1203ArgfsTer?) c.3656del (p.Lys1219ArgfsTer?) c.3716del (p.Lys1239ArgfsTer?) c.3266del (p.Lys1089ArgfsTer?) c.1568del (p.Lys523ArgfsTer?) c.1385del (p.Lys462ArgfsTer?) c.3617del (p.Lys1206ArgfsTer?) c.3569del (p.Lys1190ArgfsTer?) c.3338del (p.Lys1113ArgfsTer?) c.3239del (p.Lys1080ArgfsTer?) c.2420del (p.Lys807ArgfsTer?) n.3971del | ClinVar dbSNP |
13 | g.51937628T>A | CA388022306 | ATP7B | c.*1401A>T (n.*1401A>T) c.*2495A>T (n.*2495A>T) c.3130A>T (p.Lys1044Ter) c.3751A>T (p.Lys1251Ter) c.3418A>T (p.Lys1140Ter) c.3499A>T (p.Lys1167Ter) n.992A>T c.3517A>T (p.Lys1173Ter) n.3890A>T n.617A>T c.2686A>T (p.Lys896Ter) c.2461A>T (p.Lys821Ter) c.3556A>T (p.Lys1186Ter) c.1529A>T c.*852A>T (n.*852A>T) n.4495A>T n.3096A>T c.3607A>T (p.Lys1203Ter) c.3655A>T (p.Lys1219Ter) c.3715A>T (p.Lys1239Ter) c.3265A>T (p.Lys1089Ter) c.1567A>T (p.Lys523Ter) c.1384A>T (p.Lys462Ter) c.3616A>T (p.Lys1206Ter) c.3568A>T (p.Lys1190Ter) c.3337A>T (p.Lys1113Ter) c.3238A>T (p.Lys1080Ter) c.2419A>T (p.Lys807Ter) n.3970A>T | |
13 | g.51937628T>C | CA388022309 | ATP7B | c.*1401A>G (n.*1401A>G) c.*2495A>G (n.*2495A>G) c.3130A>G (p.Lys1044Glu) c.3751A>G (p.Lys1251Glu) c.3418A>G (p.Lys1140Glu) c.3499A>G (p.Lys1167Glu) n.992A>G c.3517A>G (p.Lys1173Glu) n.3890A>G n.617A>G c.2686A>G (p.Lys896Glu) c.2461A>G (p.Lys821Glu) c.3556A>G (p.Lys1186Glu) c.1529A>G c.*852A>G (n.*852A>G) n.4495A>G n.3096A>G c.3607A>G (p.Lys1203Glu) c.3655A>G (p.Lys1219Glu) c.3715A>G (p.Lys1239Glu) c.3265A>G (p.Lys1089Glu) c.1567A>G (p.Lys523Glu) c.1384A>G (p.Lys462Glu) c.3616A>G (p.Lys1206Glu) c.3568A>G (p.Lys1190Glu) c.3337A>G (p.Lys1113Glu) c.3238A>G (p.Lys1080Glu) c.2419A>G (p.Lys807Glu) n.3970A>G | |
13 | g.51937628T>G | CA388022310 | ATP7B | c.*1401A>C (n.*1401A>C) c.*2495A>C (n.*2495A>C) c.3130A>C (p.Lys1044Gln) c.3751A>C (p.Lys1251Gln) c.3418A>C (p.Lys1140Gln) c.3499A>C (p.Lys1167Gln) n.992A>C c.3517A>C (p.Lys1173Gln) n.3890A>C n.617A>C c.2686A>C (p.Lys896Gln) c.2461A>C (p.Lys821Gln) c.3556A>C (p.Lys1186Gln) c.1529A>C c.*852A>C (n.*852A>C) n.4495A>C n.3096A>C c.3607A>C (p.Lys1203Gln) c.3655A>C (p.Lys1219Gln) c.3715A>C (p.Lys1239Gln) c.3265A>C (p.Lys1089Gln) c.1567A>C (p.Lys523Gln) c.1384A>C (p.Lys462Gln) c.3616A>C (p.Lys1206Gln) c.3568A>C (p.Lys1190Gln) c.3337A>C (p.Lys1113Gln) c.3238A>C (p.Lys1080Gln) c.2419A>C (p.Lys807Gln) n.3970A>C | |
13 | g.51937629G>A | CA484024677 | ATP7B | c.*1400C>T (n.*1400C>T) c.*2494C>T (n.*2494C>T) c.3129C>T (p.Ala1043=) c.3750C>T (p.Ala1250=) c.3417C>T (p.Ala1139=) c.3498C>T (p.Ala1166=) n.991C>T c.3516C>T (p.Ala1172=) n.3889C>T n.616C>T c.2685C>T (p.Ala895=) c.2460C>T (p.Ala820=) c.3555C>T (p.Ala1185=) c.1528C>T c.*851C>T (n.*851C>T) n.4494C>T n.3095C>T c.3606C>T (p.Ala1202=) c.3654C>T (p.Ala1218=) c.3714C>T (p.Ala1238=) c.3264C>T (p.Ala1088=) c.1566C>T (p.Ala522=) c.1383C>T (p.Ala461=) c.3615C>T (p.Ala1205=) c.3567C>T (p.Ala1189=) c.3336C>T (p.Ala1112=) c.3237C>T (p.Ala1079=) c.2418C>T (p.Ala806=) n.3969C>T | ClinVar |
13 | g.51937629G>C | CA484024679 | ATP7B | c.*1400C>G (n.*1400C>G) c.*2494C>G (n.*2494C>G) c.3129C>G (p.Ala1043=) c.3750C>G (p.Ala1250=) c.3417C>G (p.Ala1139=) c.3498C>G (p.Ala1166=) n.991C>G c.3516C>G (p.Ala1172=) n.3889C>G n.616C>G c.2685C>G (p.Ala895=) c.2460C>G (p.Ala820=) c.3555C>G (p.Ala1185=) c.1528C>G c.*851C>G (n.*851C>G) n.4494C>G n.3095C>G c.3606C>G (p.Ala1202=) c.3654C>G (p.Ala1218=) c.3714C>G (p.Ala1238=) c.3264C>G (p.Ala1088=) c.1566C>G (p.Ala522=) c.1383C>G (p.Ala461=) c.3615C>G (p.Ala1205=) c.3567C>G (p.Ala1189=) c.3336C>G (p.Ala1112=) c.3237C>G (p.Ala1079=) c.2418C>G (p.Ala806=) n.3969C>G | |
13 | g.51937629G>T | CA484024681 | ATP7B | c.*1400C>A (n.*1400C>A) c.*2494C>A (n.*2494C>A) c.3129C>A (p.Ala1043=) c.3750C>A (p.Ala1250=) c.3417C>A (p.Ala1139=) c.3498C>A (p.Ala1166=) n.991C>A c.3516C>A (p.Ala1172=) n.3889C>A n.616C>A c.2685C>A (p.Ala895=) c.2460C>A (p.Ala820=) c.3555C>A (p.Ala1185=) c.1528C>A c.*851C>A (n.*851C>A) n.4494C>A n.3095C>A c.3606C>A (p.Ala1202=) c.3654C>A (p.Ala1218=) c.3714C>A (p.Ala1238=) c.3264C>A (p.Ala1088=) c.1566C>A (p.Ala522=) c.1383C>A (p.Ala461=) c.3615C>A (p.Ala1205=) c.3567C>A (p.Ala1189=) c.3336C>A (p.Ala1112=) c.3237C>A (p.Ala1079=) c.2418C>A (p.Ala806=) n.3969C>A | gnomAD v4 |
13 | g.51937630G>A | CA388022314 | ATP7B | c.*1399C>T (n.*1399C>T) c.*2493C>T (n.*2493C>T) c.3128C>T (p.Ala1043Val) c.3749C>T (p.Ala1250Val) c.3416C>T (p.Ala1139Val) c.3497C>T (p.Ala1166Val) n.990C>T c.3515C>T (p.Ala1172Val) n.3888C>T n.615C>T c.2684C>T (p.Ala895Val) c.2459C>T (p.Ala820Val) c.3554C>T (p.Ala1185Val) c.1527C>T c.*850C>T (n.*850C>T) n.4493C>T n.3094C>T c.3605C>T (p.Ala1202Val) c.3653C>T (p.Ala1218Val) c.3713C>T (p.Ala1238Val) c.3263C>T (p.Ala1088Val) c.1565C>T (p.Ala522Val) c.1382C>T (p.Ala461Val) c.3614C>T (p.Ala1205Val) c.3566C>T (p.Ala1189Val) c.3335C>T (p.Ala1112Val) c.3236C>T (p.Ala1079Val) c.2417C>T (p.Ala806Val) n.3968C>T | |
13 | g.51937630G>C | CA6988573 | ATP7B | c.*1399C>G (n.*1399C>G) c.*2493C>G (n.*2493C>G) c.3128C>G (p.Ala1043Gly) c.3749C>G (p.Ala1250Gly) c.3416C>G (p.Ala1139Gly) c.3497C>G (p.Ala1166Gly) n.990C>G c.3515C>G (p.Ala1172Gly) n.3888C>G n.615C>G c.2684C>G (p.Ala895Gly) c.2459C>G (p.Ala820Gly) c.3554C>G (p.Ala1185Gly) c.1527C>G c.*850C>G (n.*850C>G) n.4493C>G n.3094C>G c.3605C>G (p.Ala1202Gly) c.3653C>G (p.Ala1218Gly) c.3713C>G (p.Ala1238Gly) c.3263C>G (p.Ala1088Gly) c.1565C>G (p.Ala522Gly) c.1382C>G (p.Ala461Gly) c.3614C>G (p.Ala1205Gly) c.3566C>G (p.Ala1189Gly) c.3335C>G (p.Ala1112Gly) c.3236C>G (p.Ala1079Gly) c.2417C>G (p.Ala806Gly) n.3968C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937630G= | CA2091554184 | ATP7B | c.*1399C= (n.*1399C=) c.*2493C= (n.*2493C=) c.3128C= (p.Ala1043=) c.3749C= (p.Ala1250=) c.3416C= (p.Ala1139=) c.3497C= (p.Ala1166=) n.990C= c.3515C= (p.Ala1172=) n.3888C= n.615C= c.2684C= (p.Ala895=) c.2459C= (p.Ala820=) c.3554C= (p.Ala1185=) c.1527C= c.*850C= (n.*850C=) n.4493C= n.3094C= c.3605C= (p.Ala1202=) c.3653C= (p.Ala1218=) c.3713C= (p.Ala1238=) c.3263C= (p.Ala1088=) c.1565C= (p.Ala522=) c.1382C= (p.Ala461=) c.3614C= (p.Ala1205=) c.3566C= (p.Ala1189=) c.3335C= (p.Ala1112=) c.3236C= (p.Ala1079=) c.2417C= (p.Ala806=) n.3968C= | |
13 | g.51937630G>T | CA388022319 | ATP7B | c.*1399C>A (n.*1399C>A) c.*2493C>A (n.*2493C>A) c.3128C>A (p.Ala1043Asp) c.3749C>A (p.Ala1250Asp) c.3416C>A (p.Ala1139Asp) c.3497C>A (p.Ala1166Asp) n.990C>A c.3515C>A (p.Ala1172Asp) n.3888C>A n.615C>A c.2684C>A (p.Ala895Asp) c.2459C>A (p.Ala820Asp) c.3554C>A (p.Ala1185Asp) c.1527C>A c.*850C>A (n.*850C>A) n.4493C>A n.3094C>A c.3605C>A (p.Ala1202Asp) c.3653C>A (p.Ala1218Asp) c.3713C>A (p.Ala1238Asp) c.3263C>A (p.Ala1088Asp) c.1565C>A (p.Ala522Asp) c.1382C>A (p.Ala461Asp) c.3614C>A (p.Ala1205Asp) c.3566C>A (p.Ala1189Asp) c.3335C>A (p.Ala1112Asp) c.3236C>A (p.Ala1079Asp) c.2417C>A (p.Ala806Asp) n.3968C>A | |
13 | g.51937631C>A | CA388022332 | ATP7B | c.*1398G>T (n.*1398G>T) c.*2492G>T (n.*2492G>T) c.3127G>T (p.Ala1043Ser) c.3748G>T (p.Ala1250Ser) c.3415G>T (p.Ala1139Ser) c.3496G>T (p.Ala1166Ser) n.989G>T c.3514G>T (p.Ala1172Ser) n.3887G>T n.614G>T c.2683G>T (p.Ala895Ser) c.2458G>T (p.Ala820Ser) c.3553G>T (p.Ala1185Ser) c.1526G>T c.*849G>T (n.*849G>T) n.4492G>T n.3093G>T c.3604G>T (p.Ala1202Ser) c.3652G>T (p.Ala1218Ser) c.3712G>T (p.Ala1238Ser) c.3262G>T (p.Ala1088Ser) c.1564G>T (p.Ala522Ser) c.1381G>T (p.Ala461Ser) c.3613G>T (p.Ala1205Ser) c.3565G>T (p.Ala1189Ser) c.3334G>T (p.Ala1112Ser) c.3235G>T (p.Ala1079Ser) c.2416G>T (p.Ala806Ser) n.3967G>T | COSMIC |
13 | g.51937631C>G | CA388022327 | ATP7B | c.*1398G>C (n.*1398G>C) c.*2492G>C (n.*2492G>C) c.3127G>C (p.Ala1043Pro) c.3748G>C (p.Ala1250Pro) c.3415G>C (p.Ala1139Pro) c.3496G>C (p.Ala1166Pro) n.989G>C c.3514G>C (p.Ala1172Pro) n.3887G>C n.614G>C c.2683G>C (p.Ala895Pro) c.2458G>C (p.Ala820Pro) c.3553G>C (p.Ala1185Pro) c.1526G>C c.*849G>C (n.*849G>C) n.4492G>C n.3093G>C c.3604G>C (p.Ala1202Pro) c.3652G>C (p.Ala1218Pro) c.3712G>C (p.Ala1238Pro) c.3262G>C (p.Ala1088Pro) c.1564G>C (p.Ala522Pro) c.1381G>C (p.Ala461Pro) c.3613G>C (p.Ala1205Pro) c.3565G>C (p.Ala1189Pro) c.3334G>C (p.Ala1112Pro) c.3235G>C (p.Ala1079Pro) c.2416G>C (p.Ala806Pro) n.3967G>C | |
13 | g.51937631C>T | CA388022323 | ATP7B | c.*1398G>A (n.*1398G>A) c.*2492G>A (n.*2492G>A) c.3127G>A (p.Ala1043Thr) c.3748G>A (p.Ala1250Thr) c.3415G>A (p.Ala1139Thr) c.3496G>A (p.Ala1166Thr) n.989G>A c.3514G>A (p.Ala1172Thr) n.3887G>A n.614G>A c.2683G>A (p.Ala895Thr) c.2458G>A (p.Ala820Thr) c.3553G>A (p.Ala1185Thr) c.1526G>A c.*849G>A (n.*849G>A) n.4492G>A n.3093G>A c.3604G>A (p.Ala1202Thr) c.3652G>A (p.Ala1218Thr) c.3712G>A (p.Ala1238Thr) c.3262G>A (p.Ala1088Thr) c.1564G>A (p.Ala522Thr) c.1381G>A (p.Ala461Thr) c.3613G>A (p.Ala1205Thr) c.3565G>A (p.Ala1189Thr) c.3334G>A (p.Ala1112Thr) c.3235G>A (p.Ala1079Thr) c.2416G>A (p.Ala806Thr) n.3967G>A | |
13 | g.51937632C>A | CA484024685 | ATP7B | c.*1397G>T (n.*1397G>T) c.*2491G>T (n.*2491G>T) c.3126G>T (p.Val1042=) c.3747G>T (p.Val1249=) c.3414G>T (p.Val1138=) c.3495G>T (p.Val1165=) n.988G>T c.3513G>T (p.Val1171=) n.3886G>T n.613G>T c.2682G>T (p.Val894=) c.2457G>T (p.Val819=) c.3552G>T (p.Val1184=) c.1525G>T c.*848G>T (n.*848G>T) n.4491G>T n.3092G>T c.3603G>T (p.Val1201=) c.3651G>T (p.Val1217=) c.3711G>T (p.Val1237=) c.3261G>T (p.Val1087=) c.1563G>T (p.Val521=) c.1380G>T (p.Val460=) c.3612G>T (p.Val1204=) c.3564G>T (p.Val1188=) c.3333G>T (p.Val1111=) c.3234G>T (p.Val1078=) c.2415G>T (p.Val805=) n.3966G>T | |
13 | g.51937632C= | CA2091554189 | ATP7B | c.*1397G= (n.*1397G=) c.*2491G= (n.*2491G=) c.3126G= (p.Val1042=) c.3747G= (p.Val1249=) c.3414G= (p.Val1138=) c.3495G= (p.Val1165=) n.988G= c.3513G= (p.Val1171=) n.3886G= n.613G= c.2682G= (p.Val894=) c.2457G= (p.Val819=) c.3552G= (p.Val1184=) c.1525G= c.*848G= (n.*848G=) n.4491G= n.3092G= c.3603G= (p.Val1201=) c.3651G= (p.Val1217=) c.3711G= (p.Val1237=) c.3261G= (p.Val1087=) c.1563G= (p.Val521=) c.1380G= (p.Val460=) c.3612G= (p.Val1204=) c.3564G= (p.Val1188=) c.3333G= (p.Val1111=) c.3234G= (p.Val1078=) c.2415G= (p.Val805=) n.3966G= | |
13 | g.51937632C>G | CA484024686 | ATP7B | c.*1397G>C (n.*1397G>C) c.*2491G>C (n.*2491G>C) c.3126G>C (p.Val1042=) c.3747G>C (p.Val1249=) c.3414G>C (p.Val1138=) c.3495G>C (p.Val1165=) n.988G>C c.3513G>C (p.Val1171=) n.3886G>C n.613G>C c.2682G>C (p.Val894=) c.2457G>C (p.Val819=) c.3552G>C (p.Val1184=) c.1525G>C c.*848G>C (n.*848G>C) n.4491G>C n.3092G>C c.3603G>C (p.Val1201=) c.3651G>C (p.Val1217=) c.3711G>C (p.Val1237=) c.3261G>C (p.Val1087=) c.1563G>C (p.Val521=) c.1380G>C (p.Val460=) c.3612G>C (p.Val1204=) c.3564G>C (p.Val1188=) c.3333G>C (p.Val1111=) c.3234G>C (p.Val1078=) c.2415G>C (p.Val805=) n.3966G>C | |
13 | g.51937632C>T | CA6988574 | ATP7B | c.*1397G>A (n.*1397G>A) c.*2491G>A (n.*2491G>A) c.3126G>A (p.Val1042=) c.3747G>A (p.Val1249=) c.3414G>A (p.Val1138=) c.3495G>A (p.Val1165=) n.988G>A c.3513G>A (p.Val1171=) n.3886G>A n.613G>A c.2682G>A (p.Val894=) c.2457G>A (p.Val819=) c.3552G>A (p.Val1184=) c.1525G>A c.*848G>A (n.*848G>A) n.4491G>A n.3092G>A c.3603G>A (p.Val1201=) c.3651G>A (p.Val1217=) c.3711G>A (p.Val1237=) c.3261G>A (p.Val1087=) c.1563G>A (p.Val521=) c.1380G>A (p.Val460=) c.3612G>A (p.Val1204=) c.3564G>A (p.Val1188=) c.3333G>A (p.Val1111=) c.3234G>A (p.Val1078=) c.2415G>A (p.Val805=) n.3966G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937633A>C | CA388022335 | ATP7B | c.*1396T>G (n.*1396T>G) c.*2490T>G (n.*2490T>G) c.3125T>G (p.Val1042Gly) c.3746T>G (p.Val1249Gly) c.3413T>G (p.Val1138Gly) c.3494T>G (p.Val1165Gly) n.987T>G c.3512T>G (p.Val1171Gly) n.3885T>G n.612T>G c.2681T>G (p.Val894Gly) c.2456T>G (p.Val819Gly) c.3551T>G (p.Val1184Gly) c.1524T>G c.*847T>G (n.*847T>G) n.4490T>G n.3091T>G c.3602T>G (p.Val1201Gly) c.3650T>G (p.Val1217Gly) c.3710T>G (p.Val1237Gly) c.3260T>G (p.Val1087Gly) c.1562T>G (p.Val521Gly) c.1379T>G (p.Val460Gly) c.3611T>G (p.Val1204Gly) c.3563T>G (p.Val1188Gly) c.3332T>G (p.Val1111Gly) c.3233T>G (p.Val1078Gly) c.2414T>G (p.Val805Gly) n.3965T>G | |
13 | g.51937633A>G | CA388022338 | ATP7B | c.*1396T>C (n.*1396T>C) c.*2490T>C (n.*2490T>C) c.3125T>C (p.Val1042Ala) c.3746T>C (p.Val1249Ala) c.3413T>C (p.Val1138Ala) c.3494T>C (p.Val1165Ala) n.987T>C c.3512T>C (p.Val1171Ala) n.3885T>C n.612T>C c.2681T>C (p.Val894Ala) c.2456T>C (p.Val819Ala) c.3551T>C (p.Val1184Ala) c.1524T>C c.*847T>C (n.*847T>C) n.4490T>C n.3091T>C c.3602T>C (p.Val1201Ala) c.3650T>C (p.Val1217Ala) c.3710T>C (p.Val1237Ala) c.3260T>C (p.Val1087Ala) c.1562T>C (p.Val521Ala) c.1379T>C (p.Val460Ala) c.3611T>C (p.Val1204Ala) c.3563T>C (p.Val1188Ala) c.3332T>C (p.Val1111Ala) c.3233T>C (p.Val1078Ala) c.2414T>C (p.Val805Ala) n.3965T>C | |
13 | g.51937633A>T | CA388022342 | ATP7B | c.*1396T>A (n.*1396T>A) c.*2490T>A (n.*2490T>A) c.3125T>A (p.Val1042Glu) c.3746T>A (p.Val1249Glu) c.3413T>A (p.Val1138Glu) c.3494T>A (p.Val1165Glu) n.987T>A c.3512T>A (p.Val1171Glu) n.3885T>A n.612T>A c.2681T>A (p.Val894Glu) c.2456T>A (p.Val819Glu) c.3551T>A (p.Val1184Glu) c.1524T>A c.*847T>A (n.*847T>A) n.4490T>A n.3091T>A c.3602T>A (p.Val1201Glu) c.3650T>A (p.Val1217Glu) c.3710T>A (p.Val1237Glu) c.3260T>A (p.Val1087Glu) c.1562T>A (p.Val521Glu) c.1379T>A (p.Val460Glu) c.3611T>A (p.Val1204Glu) c.3563T>A (p.Val1188Glu) c.3332T>A (p.Val1111Glu) c.3233T>A (p.Val1078Glu) c.2414T>A (p.Val805Glu) n.3965T>A | gnomAD v4 |
13 | g.51937634C>A | CA388022349 | ATP7B | c.*1395G>T (n.*1395G>T) c.*2489G>T (n.*2489G>T) c.3124G>T (p.Val1042Leu) c.3745G>T (p.Val1249Leu) c.3412G>T (p.Val1138Leu) c.3493G>T (p.Val1165Leu) n.986G>T c.3511G>T (p.Val1171Leu) n.3884G>T n.611G>T c.2680G>T (p.Val894Leu) c.2455G>T (p.Val819Leu) c.3550G>T (p.Val1184Leu) c.1523G>T c.*846G>T (n.*846G>T) n.4489G>T n.3090G>T c.3601G>T (p.Val1201Leu) c.3649G>T (p.Val1217Leu) c.3709G>T (p.Val1237Leu) c.3259G>T (p.Val1087Leu) c.1561G>T (p.Val521Leu) c.1378G>T (p.Val460Leu) c.3610G>T (p.Val1204Leu) c.3562G>T (p.Val1188Leu) c.3331G>T (p.Val1111Leu) c.3232G>T (p.Val1078Leu) c.2413G>T (p.Val805Leu) n.3964G>T | |
13 | g.51937634C>G | CA388022352 | ATP7B | c.*1395G>C (n.*1395G>C) c.*2489G>C (n.*2489G>C) c.3124G>C (p.Val1042Leu) c.3745G>C (p.Val1249Leu) c.3412G>C (p.Val1138Leu) c.3493G>C (p.Val1165Leu) n.986G>C c.3511G>C (p.Val1171Leu) n.3884G>C n.611G>C c.2680G>C (p.Val894Leu) c.2455G>C (p.Val819Leu) c.3550G>C (p.Val1184Leu) c.1523G>C c.*846G>C (n.*846G>C) n.4489G>C n.3090G>C c.3601G>C (p.Val1201Leu) c.3649G>C (p.Val1217Leu) c.3709G>C (p.Val1237Leu) c.3259G>C (p.Val1087Leu) c.1561G>C (p.Val521Leu) c.1378G>C (p.Val460Leu) c.3610G>C (p.Val1204Leu) c.3562G>C (p.Val1188Leu) c.3331G>C (p.Val1111Leu) c.3232G>C (p.Val1078Leu) c.2413G>C (p.Val805Leu) n.3964G>C | |
13 | g.51937634C>T | CA388022363 | ATP7B | c.*1395G>A (n.*1395G>A) c.*2489G>A (n.*2489G>A) c.3124G>A (p.Val1042Met) c.3745G>A (p.Val1249Met) c.3412G>A (p.Val1138Met) c.3493G>A (p.Val1165Met) n.986G>A c.3511G>A (p.Val1171Met) n.3884G>A n.611G>A c.2680G>A (p.Val894Met) c.2455G>A (p.Val819Met) c.3550G>A (p.Val1184Met) c.1523G>A c.*846G>A (n.*846G>A) n.4489G>A n.3090G>A c.3601G>A (p.Val1201Met) c.3649G>A (p.Val1217Met) c.3709G>A (p.Val1237Met) c.3259G>A (p.Val1087Met) c.1561G>A (p.Val521Met) c.1378G>A (p.Val460Met) c.3610G>A (p.Val1204Met) c.3562G>A (p.Val1188Met) c.3331G>A (p.Val1111Met) c.3232G>A (p.Val1078Met) c.2413G>A (p.Val805Met) n.3964G>A | gnomAD v4 |
13 | g.51937635C>A | CA388022366 | ATP7B | c.*1394G>T (n.*1394G>T) c.*2488G>T (n.*2488G>T) c.3123G>T (p.Lys1041Asn) c.3744G>T (p.Lys1248Asn) c.3411G>T (p.Lys1137Asn) c.3492G>T (p.Lys1164Asn) n.985G>T c.3510G>T (p.Lys1170Asn) n.3883G>T n.610G>T c.2679G>T (p.Lys893Asn) c.2454G>T (p.Lys818Asn) c.3549G>T (p.Lys1183Asn) c.1522G>T c.*845G>T (n.*845G>T) n.4488G>T n.3089G>T c.3600G>T (p.Lys1200Asn) c.3648G>T (p.Lys1216Asn) c.3708G>T (p.Lys1236Asn) c.3258G>T (p.Lys1086Asn) c.1560G>T (p.Lys520Asn) c.1377G>T (p.Lys459Asn) c.3609G>T (p.Lys1203Asn) c.3561G>T (p.Lys1187Asn) c.3330G>T (p.Lys1110Asn) c.3231G>T (p.Lys1077Asn) c.2412G>T (p.Lys804Asn) n.3963G>T | |
13 | g.51937635C>G | CA388022368 | ATP7B | c.*1394G>C (n.*1394G>C) c.*2488G>C (n.*2488G>C) c.3123G>C (p.Lys1041Asn) c.3744G>C (p.Lys1248Asn) c.3411G>C (p.Lys1137Asn) c.3492G>C (p.Lys1164Asn) n.985G>C c.3510G>C (p.Lys1170Asn) n.3883G>C n.610G>C c.2679G>C (p.Lys893Asn) c.2454G>C (p.Lys818Asn) c.3549G>C (p.Lys1183Asn) c.1522G>C c.*845G>C (n.*845G>C) n.4488G>C n.3089G>C c.3600G>C (p.Lys1200Asn) c.3648G>C (p.Lys1216Asn) c.3708G>C (p.Lys1236Asn) c.3258G>C (p.Lys1086Asn) c.1560G>C (p.Lys520Asn) c.1377G>C (p.Lys459Asn) c.3609G>C (p.Lys1203Asn) c.3561G>C (p.Lys1187Asn) c.3330G>C (p.Lys1110Asn) c.3231G>C (p.Lys1077Asn) c.2412G>C (p.Lys804Asn) n.3963G>C | |
13 | g.51937635C>T | CA484024690 | ATP7B | c.*1394G>A (n.*1394G>A) c.*2488G>A (n.*2488G>A) c.3123G>A (p.Lys1041=) c.3744G>A (p.Lys1248=) c.3411G>A (p.Lys1137=) c.3492G>A (p.Lys1164=) n.985G>A c.3510G>A (p.Lys1170=) n.3883G>A n.610G>A c.2679G>A (p.Lys893=) c.2454G>A (p.Lys818=) c.3549G>A (p.Lys1183=) c.1522G>A c.*845G>A (n.*845G>A) n.4488G>A n.3089G>A c.3600G>A (p.Lys1200=) c.3648G>A (p.Lys1216=) c.3708G>A (p.Lys1236=) c.3258G>A (p.Lys1086=) c.1560G>A (p.Lys520=) c.1377G>A (p.Lys459=) c.3609G>A (p.Lys1203=) c.3561G>A (p.Lys1187=) c.3330G>A (p.Lys1110=) c.3231G>A (p.Lys1077=) c.2412G>A (p.Lys804=) n.3963G>A | |
13 | g.51937636T>A | CA388022369 | ATP7B | c.*1393A>T (n.*1393A>T) c.*2487A>T (n.*2487A>T) c.3122A>T (p.Lys1041Met) c.3743A>T (p.Lys1248Met) c.3410A>T (p.Lys1137Met) c.3491A>T (p.Lys1164Met) n.984A>T c.3509A>T (p.Lys1170Met) n.3882A>T n.609A>T c.2678A>T (p.Lys893Met) c.2453A>T (p.Lys818Met) c.3548A>T (p.Lys1183Met) c.1521A>T c.*844A>T (n.*844A>T) n.4487A>T n.3088A>T c.3599A>T (p.Lys1200Met) c.3647A>T (p.Lys1216Met) c.3707A>T (p.Lys1236Met) c.3257A>T (p.Lys1086Met) c.1559A>T (p.Lys520Met) c.1376A>T (p.Lys459Met) c.3608A>T (p.Lys1203Met) c.3560A>T (p.Lys1187Met) c.3329A>T (p.Lys1110Met) c.3230A>T (p.Lys1077Met) c.2411A>T (p.Lys804Met) n.3962A>T | |
13 | g.51937636T>C | CA388022370 | ATP7B | c.*1393A>G (n.*1393A>G) c.*2487A>G (n.*2487A>G) c.3122A>G (p.Lys1041Arg) c.3743A>G (p.Lys1248Arg) c.3410A>G (p.Lys1137Arg) c.3491A>G (p.Lys1164Arg) n.984A>G c.3509A>G (p.Lys1170Arg) n.3882A>G n.609A>G c.2678A>G (p.Lys893Arg) c.2453A>G (p.Lys818Arg) c.3548A>G (p.Lys1183Arg) c.1521A>G c.*844A>G (n.*844A>G) n.4487A>G n.3088A>G c.3599A>G (p.Lys1200Arg) c.3647A>G (p.Lys1216Arg) c.3707A>G (p.Lys1236Arg) c.3257A>G (p.Lys1086Arg) c.1559A>G (p.Lys520Arg) c.1376A>G (p.Lys459Arg) c.3608A>G (p.Lys1203Arg) c.3560A>G (p.Lys1187Arg) c.3329A>G (p.Lys1110Arg) c.3230A>G (p.Lys1077Arg) c.2411A>G (p.Lys804Arg) n.3962A>G | |
13 | g.51937636T>G | CA388022371 | ATP7B | c.*1393A>C (n.*1393A>C) c.*2487A>C (n.*2487A>C) c.3122A>C (p.Lys1041Thr) c.3743A>C (p.Lys1248Thr) c.3410A>C (p.Lys1137Thr) c.3491A>C (p.Lys1164Thr) n.984A>C c.3509A>C (p.Lys1170Thr) n.3882A>C n.609A>C c.2678A>C (p.Lys893Thr) c.2453A>C (p.Lys818Thr) c.3548A>C (p.Lys1183Thr) c.1521A>C c.*844A>C (n.*844A>C) n.4487A>C n.3088A>C c.3599A>C (p.Lys1200Thr) c.3647A>C (p.Lys1216Thr) c.3707A>C (p.Lys1236Thr) c.3257A>C (p.Lys1086Thr) c.1559A>C (p.Lys520Thr) c.1376A>C (p.Lys459Thr) c.3608A>C (p.Lys1203Thr) c.3560A>C (p.Lys1187Thr) c.3329A>C (p.Lys1110Thr) c.3230A>C (p.Lys1077Thr) c.2411A>C (p.Lys804Thr) n.3962A>C | COSMIC |
13 | g.51937636T= | CA2091554195 | ATP7B | c.*1393A= (n.*1393A=) c.*2487A= (n.*2487A=) c.3122A= (p.Lys1041=) c.3743A= (p.Lys1248=) c.3410A= (p.Lys1137=) c.3491A= (p.Lys1164=) n.984A= c.3509A= (p.Lys1170=) n.3882A= n.609A= c.2678A= (p.Lys893=) c.2453A= (p.Lys818=) c.3548A= (p.Lys1183=) c.1521A= c.*844A= (n.*844A=) n.4487A= n.3088A= c.3599A= (p.Lys1200=) c.3647A= (p.Lys1216=) c.3707A= (p.Lys1236=) c.3257A= (p.Lys1086=) c.1559A= (p.Lys520=) c.1376A= (p.Lys459=) c.3608A= (p.Lys1203=) c.3560A= (p.Lys1187=) c.3329A= (p.Lys1110=) c.3230A= (p.Lys1077=) c.2411A= (p.Lys804=) n.3962A= | |
13 | g.51937637del | CA2697551871 | ATP7B | c.*1393del (n.*1393del) c.*2487del (n.*2487del) c.3122del (p.Lys1041ArgfsTer?) c.3743del (p.Lys1248ArgfsTer?) c.3410del (p.Lys1137ArgfsTer?) c.3491del (p.Lys1164ArgfsTer?) n.984del c.3509del (p.Lys1170ArgfsTer?) n.3882del n.609del c.2678del (p.Lys893ArgfsTer?) c.2453del (p.Lys818ArgfsTer?) c.3548del (p.Lys1183ArgfsTer?) c.1521del c.*844del (n.*844del) n.4487del n.3088del c.3599del (p.Lys1200ArgfsTer?) c.3647del (p.Lys1216ArgfsTer?) c.3707del (p.Lys1236ArgfsTer?) c.3257del (p.Lys1086ArgfsTer?) c.1559del (p.Lys520ArgfsTer?) c.1376del (p.Lys459ArgfsTer?) c.3608del (p.Lys1203ArgfsTer?) c.3560del (p.Lys1187ArgfsTer?) c.3329del (p.Lys1110ArgfsTer?) c.3230del (p.Lys1077ArgfsTer?) c.2411del (p.Lys804ArgfsTer?) n.3962del | ClinVar |
13 | g.51937637T>A | CA388022378 | ATP7B | c.*1392A>T (n.*1392A>T) c.*2486A>T (n.*2486A>T) c.3121A>T (p.Lys1041Ter) c.3742A>T (p.Lys1248Ter) c.3409A>T (p.Lys1137Ter) c.3490A>T (p.Lys1164Ter) n.983A>T c.3508A>T (p.Lys1170Ter) n.3881A>T n.608A>T c.2677A>T (p.Lys893Ter) c.2452A>T (p.Lys818Ter) c.3547A>T (p.Lys1183Ter) c.1520A>T c.*843A>T (n.*843A>T) n.4486A>T n.3087A>T c.3598A>T (p.Lys1200Ter) c.3646A>T (p.Lys1216Ter) c.3706A>T (p.Lys1236Ter) c.3256A>T (p.Lys1086Ter) c.1558A>T (p.Lys520Ter) c.1375A>T (p.Lys459Ter) c.3607A>T (p.Lys1203Ter) c.3559A>T (p.Lys1187Ter) c.3328A>T (p.Lys1110Ter) c.3229A>T (p.Lys1077Ter) c.2410A>T (p.Lys804Ter) n.3961A>T | |
13 | g.51937637T>C | CA388022375 | ATP7B | c.*1392A>G (n.*1392A>G) c.*2486A>G (n.*2486A>G) c.3121A>G (p.Lys1041Glu) c.3742A>G (p.Lys1248Glu) c.3409A>G (p.Lys1137Glu) c.3490A>G (p.Lys1164Glu) n.983A>G c.3508A>G (p.Lys1170Glu) n.3881A>G n.608A>G c.2677A>G (p.Lys893Glu) c.2452A>G (p.Lys818Glu) c.3547A>G (p.Lys1183Glu) c.1520A>G c.*843A>G (n.*843A>G) n.4486A>G n.3087A>G c.3598A>G (p.Lys1200Glu) c.3646A>G (p.Lys1216Glu) c.3706A>G (p.Lys1236Glu) c.3256A>G (p.Lys1086Glu) c.1558A>G (p.Lys520Glu) c.1375A>G (p.Lys459Glu) c.3607A>G (p.Lys1203Glu) c.3559A>G (p.Lys1187Glu) c.3328A>G (p.Lys1110Glu) c.3229A>G (p.Lys1077Glu) c.2410A>G (p.Lys804Glu) n.3961A>G | |
13 | g.51937637T>G | CA388022373 | ATP7B | c.*1392A>C (n.*1392A>C) c.*2486A>C (n.*2486A>C) c.3121A>C (p.Lys1041Gln) c.3742A>C (p.Lys1248Gln) c.3409A>C (p.Lys1137Gln) c.3490A>C (p.Lys1164Gln) n.983A>C c.3508A>C (p.Lys1170Gln) n.3881A>C n.608A>C c.2677A>C (p.Lys893Gln) c.2452A>C (p.Lys818Gln) c.3547A>C (p.Lys1183Gln) c.1520A>C c.*843A>C (n.*843A>C) n.4486A>C n.3087A>C c.3598A>C (p.Lys1200Gln) c.3646A>C (p.Lys1216Gln) c.3706A>C (p.Lys1236Gln) c.3256A>C (p.Lys1086Gln) c.1558A>C (p.Lys520Gln) c.1375A>C (p.Lys459Gln) c.3607A>C (p.Lys1203Gln) c.3559A>C (p.Lys1187Gln) c.3328A>C (p.Lys1110Gln) c.3229A>C (p.Lys1077Gln) c.2410A>C (p.Lys804Gln) n.3961A>C | |
13 | g.51937637T= | CA2091554202 | ATP7B | c.*1392A= (n.*1392A=) c.*2486A= (n.*2486A=) c.3121A= (p.Lys1041=) c.3742A= (p.Lys1248=) c.3409A= (p.Lys1137=) c.3490A= (p.Lys1164=) n.983A= c.3508A= (p.Lys1170=) n.3881A= n.608A= c.2677A= (p.Lys893=) c.2452A= (p.Lys818=) c.3547A= (p.Lys1183=) c.1520A= c.*843A= (n.*843A=) n.4486A= n.3087A= c.3598A= (p.Lys1200=) c.3646A= (p.Lys1216=) c.3706A= (p.Lys1236=) c.3256A= (p.Lys1086=) c.1558A= (p.Lys520=) c.1375A= (p.Lys459=) c.3607A= (p.Lys1203=) c.3559A= (p.Lys1187=) c.3328A= (p.Lys1110=) c.3229A= (p.Lys1077=) c.2410A= (p.Lys804=) n.3961A= | |
13 | g.51937639_51937640dup | CA610425734 | ATP7B | c.*1391_*1392dup (n.*1391_*1392dup) c.*2485_*2486dup (n.*2485_*2486dup) c.3120_3121dup (p.Lys1041ThrfsTer?) c.3741_3742dup (p.Lys1248ThrfsTer?) c.3408_3409dup (p.Lys1137ThrfsTer?) c.3489_3490dup (p.Lys1164ThrfsTer?) n.982_983dup c.3507_3508dup (p.Lys1170ThrfsTer?) n.3880_3881dup n.607_608dup c.2676_2677dup (p.Lys893ThrfsTer?) c.2451_2452dup (p.Lys818ThrfsTer?) c.3546_3547dup (p.Lys1183ThrfsTer?) c.1519_1520dup c.*842_*843dup (n.*842_*843dup) n.4485_4486dup n.3086_3087dup c.3597_3598dup (p.Lys1200ThrfsTer?) c.3645_3646dup (p.Lys1216ThrfsTer?) c.3705_3706dup (p.Lys1236ThrfsTer?) c.3255_3256dup (p.Lys1086ThrfsTer?) c.1557_1558dup (p.Lys520ThrfsTer?) c.1374_1375dup (p.Lys459ThrfsTer?) c.3606_3607dup (p.Lys1203ThrfsTer?) c.3558_3559dup (p.Lys1187ThrfsTer?) c.3327_3328dup (p.Lys1110ThrfsTer?) c.3228_3229dup (p.Lys1077ThrfsTer?) c.2409_2410dup (p.Lys804ThrfsTer?) n.3960_3961dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937639_51937640del | CA2580614736 | ATP7B | c.*1391_*1392del (n.*1391_*1392del) c.*2485_*2486del (n.*2485_*2486del) c.3120_3121del (p.His1040GlnfsTer11) c.3741_3742del (p.His1247GlnfsTer11) c.3408_3409del (p.His1136GlnfsTer11) c.3489_3490del (p.His1163GlnfsTer11) n.982_983del c.3507_3508del (p.His1169GlnfsTer11) n.3880_3881del n.607_608del c.2676_2677del (p.His892GlnfsTer11) c.2451_2452del (p.His817GlnfsTer11) c.3546_3547del (p.His1182GlnfsTer11) c.1519_1520del c.*842_*843del (n.*842_*843del) n.4485_4486del n.3086_3087del c.3597_3598del (p.His1199GlnfsTer11) c.3645_3646del (p.His1215GlnfsTer11) c.3705_3706del (p.His1235GlnfsTer11) c.3255_3256del (p.His1085GlnfsTer11) c.1557_1558del (p.His519GlnfsTer11) c.1374_1375del (p.His458GlnfsTer11) c.3606_3607del (p.His1202GlnfsTer11) c.3558_3559del (p.His1186GlnfsTer11) c.3327_3328del (p.His1109GlnfsTer11) c.3228_3229del (p.His1076GlnfsTer11) c.2409_2410del (p.His803GlnfsTer11) n.3960_3961del | ClinVar |
13 | g.51937637_51937638insTG | CA915948578 | ATP7B | c.*1391_*1392insCA (n.*1391_*1392insCA) c.*2485_*2486insCA (n.*2485_*2486insCA) c.3120_3121insCA (p.Lys1041GlnfsTer?) c.3741_3742insCA (p.Lys1248GlnfsTer?) c.3408_3409insCA (p.Lys1137GlnfsTer?) c.3489_3490insCA (p.Lys1164GlnfsTer?) n.982_983insCA c.3507_3508insCA (p.Lys1170GlnfsTer?) n.3880_3881insCA n.607_608insCA c.2676_2677insCA (p.Lys893GlnfsTer?) c.2451_2452insCA (p.Lys818GlnfsTer?) c.3546_3547insCA (p.Lys1183GlnfsTer?) c.1519_1520insCA c.*842_*843insCA (n.*842_*843insCA) n.4485_4486insCA n.3086_3087insCA c.3597_3598insCA (p.Lys1200GlnfsTer?) c.3645_3646insCA (p.Lys1216GlnfsTer?) c.3705_3706insCA (p.Lys1236GlnfsTer?) c.3255_3256insCA (p.Lys1086GlnfsTer?) c.1557_1558insCA (p.Lys520GlnfsTer?) c.1374_1375insCA (p.Lys459GlnfsTer?) c.3606_3607insCA (p.Lys1203GlnfsTer?) c.3558_3559insCA (p.Lys1187GlnfsTer?) c.3327_3328insCA (p.Lys1110GlnfsTer?) c.3228_3229insCA (p.Lys1077GlnfsTer?) c.2409_2410insCA (p.Lys804GlnfsTer?) n.3960_3961insCA | |
13 | g.51937638G>A | CA484024696 | ATP7B | c.*1391C>T (n.*1391C>T) c.*2485C>T (n.*2485C>T) c.3120C>T (p.His1040=) c.3741C>T (p.His1247=) c.3408C>T (p.His1136=) c.3489C>T (p.His1163=) n.982C>T c.3507C>T (p.His1169=) n.3880C>T n.607C>T c.2676C>T (p.His892=) c.2451C>T (p.His817=) c.3546C>T (p.His1182=) c.1519C>T c.*842C>T (n.*842C>T) n.4485C>T n.3086C>T c.3597C>T (p.His1199=) c.3645C>T (p.His1215=) c.3705C>T (p.His1235=) c.3255C>T (p.His1085=) c.1557C>T (p.His519=) c.1374C>T (p.His458=) c.3606C>T (p.His1202=) c.3558C>T (p.His1186=) c.3327C>T (p.His1109=) c.3228C>T (p.His1076=) c.2409C>T (p.His803=) n.3960C>T | ClinVar dbSNP |
13 | g.51937638G>C | CA6988575 | ATP7B | c.*1391C>G (n.*1391C>G) c.*2485C>G (n.*2485C>G) c.3120C>G (p.His1040Gln) c.3741C>G (p.His1247Gln) c.3408C>G (p.His1136Gln) c.3489C>G (p.His1163Gln) n.982C>G c.3507C>G (p.His1169Gln) n.3880C>G n.607C>G c.2676C>G (p.His892Gln) c.2451C>G (p.His817Gln) c.3546C>G (p.His1182Gln) c.1519C>G c.*842C>G (n.*842C>G) n.4485C>G n.3086C>G c.3597C>G (p.His1199Gln) c.3645C>G (p.His1215Gln) c.3705C>G (p.His1235Gln) c.3255C>G (p.His1085Gln) c.1557C>G (p.His519Gln) c.1374C>G (p.His458Gln) c.3606C>G (p.His1202Gln) c.3558C>G (p.His1186Gln) c.3327C>G (p.His1109Gln) c.3228C>G (p.His1076Gln) c.2409C>G (p.His803Gln) n.3960C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937638G= | CA2091554221 | ATP7B | c.*1391C= (n.*1391C=) c.*2485C= (n.*2485C=) c.3120C= (p.His1040=) c.3741C= (p.His1247=) c.3408C= (p.His1136=) c.3489C= (p.His1163=) n.982C= c.3507C= (p.His1169=) n.3880C= n.607C= c.2676C= (p.His892=) c.2451C= (p.His817=) c.3546C= (p.His1182=) c.1519C= c.*842C= (n.*842C=) n.4485C= n.3086C= c.3597C= (p.His1199=) c.3645C= (p.His1215=) c.3705C= (p.His1235=) c.3255C= (p.His1085=) c.1557C= (p.His519=) c.1374C= (p.His458=) c.3606C= (p.His1202=) c.3558C= (p.His1186=) c.3327C= (p.His1109=) c.3228C= (p.His1076=) c.2409C= (p.His803=) n.3960C= | |
13 | g.51937638G>T | CA388022381 | ATP7B | c.*1391C>A (n.*1391C>A) c.*2485C>A (n.*2485C>A) c.3120C>A (p.His1040Gln) c.3741C>A (p.His1247Gln) c.3408C>A (p.His1136Gln) c.3489C>A (p.His1163Gln) n.982C>A c.3507C>A (p.His1169Gln) n.3880C>A n.607C>A c.2676C>A (p.His892Gln) c.2451C>A (p.His817Gln) c.3546C>A (p.His1182Gln) c.1519C>A c.*842C>A (n.*842C>A) n.4485C>A n.3086C>A c.3597C>A (p.His1199Gln) c.3645C>A (p.His1215Gln) c.3705C>A (p.His1235Gln) c.3255C>A (p.His1085Gln) c.1557C>A (p.His519Gln) c.1374C>A (p.His458Gln) c.3606C>A (p.His1202Gln) c.3558C>A (p.His1186Gln) c.3327C>A (p.His1109Gln) c.3228C>A (p.His1076Gln) c.2409C>A (p.His803Gln) n.3960C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937639T>A | CA388022382 | ATP7B | c.*1390A>T (n.*1390A>T) c.*2484A>T (n.*2484A>T) c.3119A>T (p.His1040Leu) c.3740A>T (p.His1247Leu) c.3407A>T (p.His1136Leu) c.3488A>T (p.His1163Leu) n.981A>T c.3506A>T (p.His1169Leu) n.3879A>T n.606A>T c.2675A>T (p.His892Leu) c.2450A>T (p.His817Leu) c.3545A>T (p.His1182Leu) c.1518A>T c.*841A>T (n.*841A>T) n.4484A>T n.3085A>T c.3596A>T (p.His1199Leu) c.3644A>T (p.His1215Leu) c.3704A>T (p.His1235Leu) c.3254A>T (p.His1085Leu) c.1556A>T (p.His519Leu) c.1373A>T (p.His458Leu) c.3605A>T (p.His1202Leu) c.3557A>T (p.His1186Leu) c.3326A>T (p.His1109Leu) c.3227A>T (p.His1076Leu) c.2408A>T (p.His803Leu) n.3959A>T | |
13 | g.51937639T>C | CA388022385 | ATP7B | c.*1390A>G (n.*1390A>G) c.*2484A>G (n.*2484A>G) c.3119A>G (p.His1040Arg) c.3740A>G (p.His1247Arg) c.3407A>G (p.His1136Arg) c.3488A>G (p.His1163Arg) n.981A>G c.3506A>G (p.His1169Arg) n.3879A>G n.606A>G c.2675A>G (p.His892Arg) c.2450A>G (p.His817Arg) c.3545A>G (p.His1182Arg) c.1518A>G c.*841A>G (n.*841A>G) n.4484A>G n.3085A>G c.3596A>G (p.His1199Arg) c.3644A>G (p.His1215Arg) c.3704A>G (p.His1235Arg) c.3254A>G (p.His1085Arg) c.1556A>G (p.His519Arg) c.1373A>G (p.His458Arg) c.3605A>G (p.His1202Arg) c.3557A>G (p.His1186Arg) c.3326A>G (p.His1109Arg) c.3227A>G (p.His1076Arg) c.2408A>G (p.His803Arg) n.3959A>G | |
13 | g.51937639T>G | CA388022390 | ATP7B | c.*1390A>C (n.*1390A>C) c.*2484A>C (n.*2484A>C) c.3119A>C (p.His1040Pro) c.3740A>C (p.His1247Pro) c.3407A>C (p.His1136Pro) c.3488A>C (p.His1163Pro) n.981A>C c.3506A>C (p.His1169Pro) n.3879A>C n.606A>C c.2675A>C (p.His892Pro) c.2450A>C (p.His817Pro) c.3545A>C (p.His1182Pro) c.1518A>C c.*841A>C (n.*841A>C) n.4484A>C n.3085A>C c.3596A>C (p.His1199Pro) c.3644A>C (p.His1215Pro) c.3704A>C (p.His1235Pro) c.3254A>C (p.His1085Pro) c.1556A>C (p.His519Pro) c.1373A>C (p.His458Pro) c.3605A>C (p.His1202Pro) c.3557A>C (p.His1186Pro) c.3326A>C (p.His1109Pro) c.3227A>C (p.His1076Pro) c.2408A>C (p.His803Pro) n.3959A>C | |
13 | g.51937640G>A | CA388022392 | ATP7B | c.*1389C>T (n.*1389C>T) c.*2483C>T (n.*2483C>T) c.3118C>T (p.His1040Tyr) c.3739C>T (p.His1247Tyr) c.3406C>T (p.His1136Tyr) c.3487C>T (p.His1163Tyr) n.980C>T c.3505C>T (p.His1169Tyr) n.3878C>T n.605C>T c.2674C>T (p.His892Tyr) c.2449C>T (p.His817Tyr) c.3544C>T (p.His1182Tyr) c.1517C>T c.*840C>T (n.*840C>T) n.4483C>T n.3084C>T c.3595C>T (p.His1199Tyr) c.3643C>T (p.His1215Tyr) c.3703C>T (p.His1235Tyr) c.3253C>T (p.His1085Tyr) c.1555C>T (p.His519Tyr) c.1372C>T (p.His458Tyr) c.3604C>T (p.His1202Tyr) c.3556C>T (p.His1186Tyr) c.3325C>T (p.His1109Tyr) c.3226C>T (p.His1076Tyr) c.2407C>T (p.His803Tyr) n.3958C>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937640G>C | CA388022393 | ATP7B | c.*1389C>G (n.*1389C>G) c.*2483C>G (n.*2483C>G) c.3118C>G (p.His1040Asp) c.3739C>G (p.His1247Asp) c.3406C>G (p.His1136Asp) c.3487C>G (p.His1163Asp) n.980C>G c.3505C>G (p.His1169Asp) n.3878C>G n.605C>G c.2674C>G (p.His892Asp) c.2449C>G (p.His817Asp) c.3544C>G (p.His1182Asp) c.1517C>G c.*840C>G (n.*840C>G) n.4483C>G n.3084C>G c.3595C>G (p.His1199Asp) c.3643C>G (p.His1215Asp) c.3703C>G (p.His1235Asp) c.3253C>G (p.His1085Asp) c.1555C>G (p.His519Asp) c.1372C>G (p.His458Asp) c.3604C>G (p.His1202Asp) c.3556C>G (p.His1186Asp) c.3325C>G (p.His1109Asp) c.3226C>G (p.His1076Asp) c.2407C>G (p.His803Asp) n.3958C>G | gnomAD v4 |
13 | g.51937640G= | CA2091554232 | ATP7B | c.*1389C= (n.*1389C=) c.*2483C= (n.*2483C=) c.3118C= (p.His1040=) c.3739C= (p.His1247=) c.3406C= (p.His1136=) c.3487C= (p.His1163=) n.980C= c.3505C= (p.His1169=) n.3878C= n.605C= c.2674C= (p.His892=) c.2449C= (p.His817=) c.3544C= (p.His1182=) c.1517C= c.*840C= (n.*840C=) n.4483C= n.3084C= c.3595C= (p.His1199=) c.3643C= (p.His1215=) c.3703C= (p.His1235=) c.3253C= (p.His1085=) c.1555C= (p.His519=) c.1372C= (p.His458=) c.3604C= (p.His1202=) c.3556C= (p.His1186=) c.3325C= (p.His1109=) c.3226C= (p.His1076=) c.2407C= (p.His803=) n.3958C= | |
13 | g.51937640G>T | CA388022394 | ATP7B | c.*1389C>A (n.*1389C>A) c.*2483C>A (n.*2483C>A) c.3118C>A (p.His1040Asn) c.3739C>A (p.His1247Asn) c.3406C>A (p.His1136Asn) c.3487C>A (p.His1163Asn) n.980C>A c.3505C>A (p.His1169Asn) n.3878C>A n.605C>A c.2674C>A (p.His892Asn) c.2449C>A (p.His817Asn) c.3544C>A (p.His1182Asn) c.1517C>A c.*840C>A (n.*840C>A) n.4483C>A n.3084C>A c.3595C>A (p.His1199Asn) c.3643C>A (p.His1215Asn) c.3703C>A (p.His1235Asn) c.3253C>A (p.His1085Asn) c.1555C>A (p.His519Asn) c.1372C>A (p.His458Asn) c.3604C>A (p.His1202Asn) c.3556C>A (p.His1186Asn) c.3325C>A (p.His1109Asn) c.3226C>A (p.His1076Asn) c.2407C>A (p.His803Asn) n.3958C>A | |
13 | g.51937641C>A | CA484024704 | ATP7B | c.*1388G>T (n.*1388G>T) c.*2482G>T (n.*2482G>T) c.3117G>T (p.Ser1039=) c.3738G>T (p.Ser1246=) c.3405G>T (p.Ser1135=) c.3486G>T (p.Ser1162=) n.979G>T c.3504G>T (p.Ser1168=) n.3877G>T n.604G>T c.2673G>T (p.Ser891=) c.2448G>T (p.Ser816=) c.3543G>T (p.Ser1181=) c.1516G>T c.*839G>T (n.*839G>T) n.4482G>T n.3083G>T c.3594G>T (p.Ser1198=) c.3642G>T (p.Ser1214=) c.3702G>T (p.Ser1234=) c.3252G>T (p.Ser1084=) c.1554G>T (p.Ser518=) c.1371G>T (p.Ser457=) c.3603G>T (p.Ser1201=) c.3555G>T (p.Ser1185=) c.3324G>T (p.Ser1108=) c.3225G>T (p.Ser1075=) c.2406G>T (p.Ser802=) n.3957G>T | gnomAD v4 |
13 | g.51937641C= | CA2091554235 | ATP7B | c.*1388G= (n.*1388G=) c.*2482G= (n.*2482G=) c.3117G= (p.Ser1039=) c.3738G= (p.Ser1246=) c.3405G= (p.Ser1135=) c.3486G= (p.Ser1162=) n.979G= c.3504G= (p.Ser1168=) n.3877G= n.604G= c.2673G= (p.Ser891=) c.2448G= (p.Ser816=) c.3543G= (p.Ser1181=) c.1516G= c.*839G= (n.*839G=) n.4482G= n.3083G= c.3594G= (p.Ser1198=) c.3642G= (p.Ser1214=) c.3702G= (p.Ser1234=) c.3252G= (p.Ser1084=) c.1554G= (p.Ser518=) c.1371G= (p.Ser457=) c.3603G= (p.Ser1201=) c.3555G= (p.Ser1185=) c.3324G= (p.Ser1108=) c.3225G= (p.Ser1075=) c.2406G= (p.Ser802=) n.3957G= | |
13 | g.51937641C>G | CA484024706 | ATP7B | c.*1388G>C (n.*1388G>C) c.*2482G>C (n.*2482G>C) c.3117G>C (p.Ser1039=) c.3738G>C (p.Ser1246=) c.3405G>C (p.Ser1135=) c.3486G>C (p.Ser1162=) n.979G>C c.3504G>C (p.Ser1168=) n.3877G>C n.604G>C c.2673G>C (p.Ser891=) c.2448G>C (p.Ser816=) c.3543G>C (p.Ser1181=) c.1516G>C c.*839G>C (n.*839G>C) n.4482G>C n.3083G>C c.3594G>C (p.Ser1198=) c.3642G>C (p.Ser1214=) c.3702G>C (p.Ser1234=) c.3252G>C (p.Ser1084=) c.1554G>C (p.Ser518=) c.1371G>C (p.Ser457=) c.3603G>C (p.Ser1201=) c.3555G>C (p.Ser1185=) c.3324G>C (p.Ser1108=) c.3225G>C (p.Ser1075=) c.2406G>C (p.Ser802=) n.3957G>C | ClinVar dbSNP |
13 | g.51937641C>T | CA6988576 | ATP7B | c.*1388G>A (n.*1388G>A) c.*2482G>A (n.*2482G>A) c.3117G>A (p.Ser1039=) c.3738G>A (p.Ser1246=) c.3405G>A (p.Ser1135=) c.3486G>A (p.Ser1162=) n.979G>A c.3504G>A (p.Ser1168=) n.3877G>A n.604G>A c.2673G>A (p.Ser891=) c.2448G>A (p.Ser816=) c.3543G>A (p.Ser1181=) c.1516G>A c.*839G>A (n.*839G>A) n.4482G>A n.3083G>A c.3594G>A (p.Ser1198=) c.3642G>A (p.Ser1214=) c.3702G>A (p.Ser1234=) c.3252G>A (p.Ser1084=) c.1554G>A (p.Ser518=) c.1371G>A (p.Ser457=) c.3603G>A (p.Ser1201=) c.3555G>A (p.Ser1185=) c.3324G>A (p.Ser1108=) c.3225G>A (p.Ser1075=) c.2406G>A (p.Ser802=) n.3957G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937642G>A | CA6988577 | ATP7B | c.*1387C>T (n.*1387C>T) c.*2481C>T (n.*2481C>T) c.3116C>T (p.Ser1039Leu) c.3737C>T (p.Ser1246Leu) c.3404C>T (p.Ser1135Leu) c.3485C>T (p.Ser1162Leu) n.978C>T c.3503C>T (p.Ser1168Leu) n.3876C>T n.603C>T c.2672C>T (p.Ser891Leu) c.2447C>T (p.Ser816Leu) c.3542C>T (p.Ser1181Leu) c.1515C>T c.*838C>T (n.*838C>T) n.4481C>T n.3082C>T c.3593C>T (p.Ser1198Leu) c.3641C>T (p.Ser1214Leu) c.3701C>T (p.Ser1234Leu) c.3251C>T (p.Ser1084Leu) c.1553C>T (p.Ser518Leu) c.1370C>T (p.Ser457Leu) c.3602C>T (p.Ser1201Leu) c.3554C>T (p.Ser1185Leu) c.3323C>T (p.Ser1108Leu) c.3224C>T (p.Ser1075Leu) c.2405C>T (p.Ser802Leu) n.3956C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937642G>C | CA388022395 | ATP7B | c.*1387C>G (n.*1387C>G) c.*2481C>G (n.*2481C>G) c.3116C>G (p.Ser1039Trp) c.3737C>G (p.Ser1246Trp) c.3404C>G (p.Ser1135Trp) c.3485C>G (p.Ser1162Trp) n.978C>G c.3503C>G (p.Ser1168Trp) n.3876C>G n.603C>G c.2672C>G (p.Ser891Trp) c.2447C>G (p.Ser816Trp) c.3542C>G (p.Ser1181Trp) c.1515C>G c.*838C>G (n.*838C>G) n.4481C>G n.3082C>G c.3593C>G (p.Ser1198Trp) c.3641C>G (p.Ser1214Trp) c.3701C>G (p.Ser1234Trp) c.3251C>G (p.Ser1084Trp) c.1553C>G (p.Ser518Trp) c.1370C>G (p.Ser457Trp) c.3602C>G (p.Ser1201Trp) c.3554C>G (p.Ser1185Trp) c.3323C>G (p.Ser1108Trp) c.3224C>G (p.Ser1075Trp) c.2405C>G (p.Ser802Trp) n.3956C>G | |
13 | g.51937642G= | CA2091554242 | ATP7B | c.*1387C= (n.*1387C=) c.*2481C= (n.*2481C=) c.3116C= (p.Ser1039=) c.3737C= (p.Ser1246=) c.3404C= (p.Ser1135=) c.3485C= (p.Ser1162=) n.978C= c.3503C= (p.Ser1168=) n.3876C= n.603C= c.2672C= (p.Ser891=) c.2447C= (p.Ser816=) c.3542C= (p.Ser1181=) c.1515C= c.*838C= (n.*838C=) n.4481C= n.3082C= c.3593C= (p.Ser1198=) c.3641C= (p.Ser1214=) c.3701C= (p.Ser1234=) c.3251C= (p.Ser1084=) c.1553C= (p.Ser518=) c.1370C= (p.Ser457=) c.3602C= (p.Ser1201=) c.3554C= (p.Ser1185=) c.3323C= (p.Ser1108=) c.3224C= (p.Ser1075=) c.2405C= (p.Ser802=) n.3956C= | |
13 | g.51937642G>T | CA388022398 | ATP7B | c.*1387C>A (n.*1387C>A) c.*2481C>A (n.*2481C>A) c.3116C>A (p.Ser1039Ter) c.3737C>A (p.Ser1246Ter) c.3404C>A (p.Ser1135Ter) c.3485C>A (p.Ser1162Ter) n.978C>A c.3503C>A (p.Ser1168Ter) n.3876C>A n.603C>A c.2672C>A (p.Ser891Ter) c.2447C>A (p.Ser816Ter) c.3542C>A (p.Ser1181Ter) c.1515C>A c.*838C>A (n.*838C>A) n.4481C>A n.3082C>A c.3593C>A (p.Ser1198Ter) c.3641C>A (p.Ser1214Ter) c.3701C>A (p.Ser1234Ter) c.3251C>A (p.Ser1084Ter) c.1553C>A (p.Ser518Ter) c.1370C>A (p.Ser457Ter) c.3602C>A (p.Ser1201Ter) c.3554C>A (p.Ser1185Ter) c.3323C>A (p.Ser1108Ter) c.3224C>A (p.Ser1075Ter) c.2405C>A (p.Ser802Ter) n.3956C>A | |
13 | g.51937643A>C | CA388022405 | ATP7B | c.*1386T>G (n.*1386T>G) c.*2480T>G (n.*2480T>G) c.3115T>G (p.Ser1039Ala) c.3736T>G (p.Ser1246Ala) c.3403T>G (p.Ser1135Ala) c.3484T>G (p.Ser1162Ala) n.977T>G c.3502T>G (p.Ser1168Ala) n.3875T>G n.602T>G c.2671T>G (p.Ser891Ala) c.2446T>G (p.Ser816Ala) c.3541T>G (p.Ser1181Ala) c.1514T>G c.*837T>G (n.*837T>G) n.4480T>G n.3081T>G c.3592T>G (p.Ser1198Ala) c.3640T>G (p.Ser1214Ala) c.3700T>G (p.Ser1234Ala) c.3250T>G (p.Ser1084Ala) c.1552T>G (p.Ser518Ala) c.1369T>G (p.Ser457Ala) c.3601T>G (p.Ser1201Ala) c.3553T>G (p.Ser1185Ala) c.3322T>G (p.Ser1108Ala) c.3223T>G (p.Ser1075Ala) c.2404T>G (p.Ser802Ala) n.3955T>G | |
13 | g.51937643A>G | CA388022404 | ATP7B | c.*1386T>C (n.*1386T>C) c.*2480T>C (n.*2480T>C) c.3115T>C (p.Ser1039Pro) c.3736T>C (p.Ser1246Pro) c.3403T>C (p.Ser1135Pro) c.3484T>C (p.Ser1162Pro) n.977T>C c.3502T>C (p.Ser1168Pro) n.3875T>C n.602T>C c.2671T>C (p.Ser891Pro) c.2446T>C (p.Ser816Pro) c.3541T>C (p.Ser1181Pro) c.1514T>C c.*837T>C (n.*837T>C) n.4480T>C n.3081T>C c.3592T>C (p.Ser1198Pro) c.3640T>C (p.Ser1214Pro) c.3700T>C (p.Ser1234Pro) c.3250T>C (p.Ser1084Pro) c.1552T>C (p.Ser518Pro) c.1369T>C (p.Ser457Pro) c.3601T>C (p.Ser1201Pro) c.3553T>C (p.Ser1185Pro) c.3322T>C (p.Ser1108Pro) c.3223T>C (p.Ser1075Pro) c.2404T>C (p.Ser802Pro) n.3955T>C | |
13 | g.51937643A>T | CA388022400 | ATP7B | c.*1386T>A (n.*1386T>A) c.*2480T>A (n.*2480T>A) c.3115T>A (p.Ser1039Thr) c.3736T>A (p.Ser1246Thr) c.3403T>A (p.Ser1135Thr) c.3484T>A (p.Ser1162Thr) n.977T>A c.3502T>A (p.Ser1168Thr) n.3875T>A n.602T>A c.2671T>A (p.Ser891Thr) c.2446T>A (p.Ser816Thr) c.3541T>A (p.Ser1181Thr) c.1514T>A c.*837T>A (n.*837T>A) n.4480T>A n.3081T>A c.3592T>A (p.Ser1198Thr) c.3640T>A (p.Ser1214Thr) c.3700T>A (p.Ser1234Thr) c.3250T>A (p.Ser1084Thr) c.1552T>A (p.Ser518Thr) c.1369T>A (p.Ser457Thr) c.3601T>A (p.Ser1201Thr) c.3553T>A (p.Ser1185Thr) c.3322T>A (p.Ser1108Thr) c.3223T>A (p.Ser1075Thr) c.2404T>A (p.Ser802Thr) n.3955T>A | |
13 | g.51937644A>C | CA484024715 | ATP7B | c.*1385T>G (n.*1385T>G) c.*2479T>G (n.*2479T>G) c.3114T>G (p.Pro1038=) c.3735T>G (p.Pro1245=) c.3402T>G (p.Pro1134=) c.3483T>G (p.Pro1161=) n.976T>G c.3501T>G (p.Pro1167=) n.3874T>G n.601T>G c.2670T>G (p.Pro890=) c.2445T>G (p.Pro815=) c.3540T>G (p.Pro1180=) c.1513T>G c.*836T>G (n.*836T>G) n.4479T>G n.3080T>G c.3591T>G (p.Pro1197=) c.3639T>G (p.Pro1213=) c.3699T>G (p.Pro1233=) c.3249T>G (p.Pro1083=) c.1551T>G (p.Pro517=) c.1368T>G (p.Pro456=) c.3600T>G (p.Pro1200=) c.3552T>G (p.Pro1184=) c.3321T>G (p.Pro1107=) c.3222T>G (p.Pro1074=) c.2403T>G (p.Pro801=) n.3954T>G | COSMIC |
13 | g.51937644A>G | CA484024717 | ATP7B | c.*1385T>C (n.*1385T>C) c.*2479T>C (n.*2479T>C) c.3114T>C (p.Pro1038=) c.3735T>C (p.Pro1245=) c.3402T>C (p.Pro1134=) c.3483T>C (p.Pro1161=) n.976T>C c.3501T>C (p.Pro1167=) n.3874T>C n.601T>C c.2670T>C (p.Pro890=) c.2445T>C (p.Pro815=) c.3540T>C (p.Pro1180=) c.1513T>C c.*836T>C (n.*836T>C) n.4479T>C n.3080T>C c.3591T>C (p.Pro1197=) c.3639T>C (p.Pro1213=) c.3699T>C (p.Pro1233=) c.3249T>C (p.Pro1083=) c.1551T>C (p.Pro517=) c.1368T>C (p.Pro456=) c.3600T>C (p.Pro1200=) c.3552T>C (p.Pro1184=) c.3321T>C (p.Pro1107=) c.3222T>C (p.Pro1074=) c.2403T>C (p.Pro801=) n.3954T>C | |
13 | g.51937644A>T | CA484024718 | ATP7B | c.*1385T>A (n.*1385T>A) c.*2479T>A (n.*2479T>A) c.3114T>A (p.Pro1038=) c.3735T>A (p.Pro1245=) c.3402T>A (p.Pro1134=) c.3483T>A (p.Pro1161=) n.976T>A c.3501T>A (p.Pro1167=) n.3874T>A n.601T>A c.2670T>A (p.Pro890=) c.2445T>A (p.Pro815=) c.3540T>A (p.Pro1180=) c.1513T>A c.*836T>A (n.*836T>A) n.4479T>A n.3080T>A c.3591T>A (p.Pro1197=) c.3639T>A (p.Pro1213=) c.3699T>A (p.Pro1233=) c.3249T>A (p.Pro1083=) c.1551T>A (p.Pro517=) c.1368T>A (p.Pro456=) c.3600T>A (p.Pro1200=) c.3552T>A (p.Pro1184=) c.3321T>A (p.Pro1107=) c.3222T>A (p.Pro1074=) c.2403T>A (p.Pro801=) n.3954T>A | |
13 | g.51937645G>A | CA388022408 | ATP7B | c.*1384C>T (n.*1384C>T) c.*2478C>T (n.*2478C>T) c.3113C>T (p.Pro1038Leu) c.3734C>T (p.Pro1245Leu) c.3401C>T (p.Pro1134Leu) c.3482C>T (p.Pro1161Leu) n.975C>T c.3500C>T (p.Pro1167Leu) n.3873C>T n.600C>T c.2669C>T (p.Pro890Leu) c.2444C>T (p.Pro815Leu) c.3539C>T (p.Pro1180Leu) c.1512C>T c.*835C>T (n.*835C>T) n.4478C>T n.3079C>T c.3590C>T (p.Pro1197Leu) c.3638C>T (p.Pro1213Leu) c.3698C>T (p.Pro1233Leu) c.3248C>T (p.Pro1083Leu) c.1550C>T (p.Pro517Leu) c.1367C>T (p.Pro456Leu) c.3599C>T (p.Pro1200Leu) c.3551C>T (p.Pro1184Leu) c.3320C>T (p.Pro1107Leu) c.3221C>T (p.Pro1074Leu) c.2402C>T (p.Pro801Leu) n.3953C>T | |
13 | g.51937645G>C | CA388022416 | ATP7B | c.*1384C>G (n.*1384C>G) c.*2478C>G (n.*2478C>G) c.3113C>G (p.Pro1038Arg) c.3734C>G (p.Pro1245Arg) c.3401C>G (p.Pro1134Arg) c.3482C>G (p.Pro1161Arg) n.975C>G c.3500C>G (p.Pro1167Arg) n.3873C>G n.600C>G c.2669C>G (p.Pro890Arg) c.2444C>G (p.Pro815Arg) c.3539C>G (p.Pro1180Arg) c.1512C>G c.*835C>G (n.*835C>G) n.4478C>G n.3079C>G c.3590C>G (p.Pro1197Arg) c.3638C>G (p.Pro1213Arg) c.3698C>G (p.Pro1233Arg) c.3248C>G (p.Pro1083Arg) c.1550C>G (p.Pro517Arg) c.1367C>G (p.Pro456Arg) c.3599C>G (p.Pro1200Arg) c.3551C>G (p.Pro1184Arg) c.3320C>G (p.Pro1107Arg) c.3221C>G (p.Pro1074Arg) c.2402C>G (p.Pro801Arg) n.3953C>G | |
13 | g.51937645G>T | CA388022411 | ATP7B | c.*1384C>A (n.*1384C>A) c.*2478C>A (n.*2478C>A) c.3113C>A (p.Pro1038His) c.3734C>A (p.Pro1245His) c.3401C>A (p.Pro1134His) c.3482C>A (p.Pro1161His) n.975C>A c.3500C>A (p.Pro1167His) n.3873C>A n.600C>A c.2669C>A (p.Pro890His) c.2444C>A (p.Pro815His) c.3539C>A (p.Pro1180His) c.1512C>A c.*835C>A (n.*835C>A) n.4478C>A n.3079C>A c.3590C>A (p.Pro1197His) c.3638C>A (p.Pro1213His) c.3698C>A (p.Pro1233His) c.3248C>A (p.Pro1083His) c.1550C>A (p.Pro517His) c.1367C>A (p.Pro456His) c.3599C>A (p.Pro1200His) c.3551C>A (p.Pro1184His) c.3320C>A (p.Pro1107His) c.3221C>A (p.Pro1074His) c.2402C>A (p.Pro801His) n.3953C>A | |
13 | g.51937646G>A | CA171322 | ATP7B | c.*1383C>T (n.*1383C>T) c.*2477C>T (n.*2477C>T) c.3112C>T (p.Pro1038Ser) c.3733C>T (p.Pro1245Ser) c.3400C>T (p.Pro1134Ser) c.3481C>T (p.Pro1161Ser) n.974C>T c.3499C>T (p.Pro1167Ser) n.3872C>T n.599C>T c.2668C>T (p.Pro890Ser) c.2443C>T (p.Pro815Ser) c.3538C>T (p.Pro1180Ser) c.1511C>T c.*834C>T (n.*834C>T) n.4477C>T n.3078C>T c.3589C>T (p.Pro1197Ser) c.3637C>T (p.Pro1213Ser) c.3697C>T (p.Pro1233Ser) c.3247C>T (p.Pro1083Ser) c.1549C>T (p.Pro517Ser) c.1366C>T (p.Pro456Ser) c.3598C>T (p.Pro1200Ser) c.3550C>T (p.Pro1184Ser) c.3319C>T (p.Pro1107Ser) c.3220C>T (p.Pro1074Ser) c.2401C>T (p.Pro801Ser) n.3952C>T | ClinVar dbSNP |
13 | g.51937646G>C | CA388022433 | ATP7B | c.*1383C>G (n.*1383C>G) c.*2477C>G (n.*2477C>G) c.3112C>G (p.Pro1038Ala) c.3733C>G (p.Pro1245Ala) c.3400C>G (p.Pro1134Ala) c.3481C>G (p.Pro1161Ala) n.974C>G c.3499C>G (p.Pro1167Ala) n.3872C>G n.599C>G c.2668C>G (p.Pro890Ala) c.2443C>G (p.Pro815Ala) c.3538C>G (p.Pro1180Ala) c.1511C>G c.*834C>G (n.*834C>G) n.4477C>G n.3078C>G c.3589C>G (p.Pro1197Ala) c.3637C>G (p.Pro1213Ala) c.3697C>G (p.Pro1233Ala) c.3247C>G (p.Pro1083Ala) c.1549C>G (p.Pro517Ala) c.1366C>G (p.Pro456Ala) c.3598C>G (p.Pro1200Ala) c.3550C>G (p.Pro1184Ala) c.3319C>G (p.Pro1107Ala) c.3220C>G (p.Pro1074Ala) c.2401C>G (p.Pro801Ala) n.3952C>G | ClinVar dbSNP gnomAD v4 |
13 | g.51937646G= | CA2091554255 | ATP7B | c.*1383C= (n.*1383C=) c.*2477C= (n.*2477C=) c.3112C= (p.Pro1038=) c.3733C= (p.Pro1245=) c.3400C= (p.Pro1134=) c.3481C= (p.Pro1161=) n.974C= c.3499C= (p.Pro1167=) n.3872C= n.599C= c.2668C= (p.Pro890=) c.2443C= (p.Pro815=) c.3538C= (p.Pro1180=) c.1511C= c.*834C= (n.*834C=) n.4477C= n.3078C= c.3589C= (p.Pro1197=) c.3637C= (p.Pro1213=) c.3697C= (p.Pro1233=) c.3247C= (p.Pro1083=) c.1549C= (p.Pro517=) c.1366C= (p.Pro456=) c.3598C= (p.Pro1200=) c.3550C= (p.Pro1184=) c.3319C= (p.Pro1107=) c.3220C= (p.Pro1074=) c.2401C= (p.Pro801=) n.3952C= | |
13 | g.51937646G>T | CA388022430 | ATP7B | c.*1383C>A (n.*1383C>A) c.*2477C>A (n.*2477C>A) c.3112C>A (p.Pro1038Thr) c.3733C>A (p.Pro1245Thr) c.3400C>A (p.Pro1134Thr) c.3481C>A (p.Pro1161Thr) n.974C>A c.3499C>A (p.Pro1167Thr) n.3872C>A n.599C>A c.2668C>A (p.Pro890Thr) c.2443C>A (p.Pro815Thr) c.3538C>A (p.Pro1180Thr) c.1511C>A c.*834C>A (n.*834C>A) n.4477C>A n.3078C>A c.3589C>A (p.Pro1197Thr) c.3637C>A (p.Pro1213Thr) c.3697C>A (p.Pro1233Thr) c.3247C>A (p.Pro1083Thr) c.1549C>A (p.Pro517Thr) c.1366C>A (p.Pro456Thr) c.3598C>A (p.Pro1200Thr) c.3550C>A (p.Pro1184Thr) c.3319C>A (p.Pro1107Thr) c.3220C>A (p.Pro1074Thr) c.2401C>A (p.Pro801Thr) n.3952C>A | |
13 | g.51937647C>A | CA6988578 | ATP7B | c.*1382G>T (n.*1382G>T) c.*2476G>T (n.*2476G>T) c.3111G>T (p.Leu1037=) c.3732G>T (p.Leu1244=) c.3399G>T (p.Leu1133=) c.3480G>T (p.Leu1160=) n.973G>T c.3498G>T (p.Leu1166=) n.3871G>T n.598G>T c.2667G>T (p.Leu889=) c.2442G>T (p.Leu814=) c.3537G>T (p.Leu1179=) c.1510G>T c.*833G>T (n.*833G>T) n.4476G>T n.3077G>T c.3588G>T (p.Leu1196=) c.3636G>T (p.Leu1212=) c.3696G>T (p.Leu1232=) c.3246G>T (p.Leu1082=) c.1548G>T (p.Leu516=) c.1365G>T (p.Leu455=) c.3597G>T (p.Leu1199=) c.3549G>T (p.Leu1183=) c.3318G>T (p.Leu1106=) c.3219G>T (p.Leu1073=) c.2400G>T (p.Leu800=) n.3951G>T | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.51937647C= | CA2091554260 | ATP7B | c.*1382G= (n.*1382G=) c.*2476G= (n.*2476G=) c.3111G= (p.Leu1037=) c.3732G= (p.Leu1244=) c.3399G= (p.Leu1133=) c.3480G= (p.Leu1160=) n.973G= c.3498G= (p.Leu1166=) n.3871G= n.598G= c.2667G= (p.Leu889=) c.2442G= (p.Leu814=) c.3537G= (p.Leu1179=) c.1510G= c.*833G= (n.*833G=) n.4476G= n.3077G= c.3588G= (p.Leu1196=) c.3636G= (p.Leu1212=) c.3696G= (p.Leu1232=) c.3246G= (p.Leu1082=) c.1548G= (p.Leu516=) c.1365G= (p.Leu455=) c.3597G= (p.Leu1199=) c.3549G= (p.Leu1183=) c.3318G= (p.Leu1106=) c.3219G= (p.Leu1073=) c.2400G= (p.Leu800=) n.3951G= | |
13 | g.51937647C>G | CA484024722 | ATP7B | c.*1382G>C (n.*1382G>C) c.*2476G>C (n.*2476G>C) c.3111G>C (p.Leu1037=) c.3732G>C (p.Leu1244=) c.3399G>C (p.Leu1133=) c.3480G>C (p.Leu1160=) n.973G>C c.3498G>C (p.Leu1166=) n.3871G>C n.598G>C c.2667G>C (p.Leu889=) c.2442G>C (p.Leu814=) c.3537G>C (p.Leu1179=) c.1510G>C c.*833G>C (n.*833G>C) n.4476G>C n.3077G>C c.3588G>C (p.Leu1196=) c.3636G>C (p.Leu1212=) c.3696G>C (p.Leu1232=) c.3246G>C (p.Leu1082=) c.1548G>C (p.Leu516=) c.1365G>C (p.Leu455=) c.3597G>C (p.Leu1199=) c.3549G>C (p.Leu1183=) c.3318G>C (p.Leu1106=) c.3219G>C (p.Leu1073=) c.2400G>C (p.Leu800=) n.3951G>C | |
13 | g.51937647C>T | CA484024724 | ATP7B | c.*1382G>A (n.*1382G>A) c.*2476G>A (n.*2476G>A) c.3111G>A (p.Leu1037=) c.3732G>A (p.Leu1244=) c.3399G>A (p.Leu1133=) c.3480G>A (p.Leu1160=) n.973G>A c.3498G>A (p.Leu1166=) n.3871G>A n.598G>A c.2667G>A (p.Leu889=) c.2442G>A (p.Leu814=) c.3537G>A (p.Leu1179=) c.1510G>A c.*833G>A (n.*833G>A) n.4476G>A n.3077G>A c.3588G>A (p.Leu1196=) c.3636G>A (p.Leu1212=) c.3696G>A (p.Leu1232=) c.3246G>A (p.Leu1082=) c.1548G>A (p.Leu516=) c.1365G>A (p.Leu455=) c.3597G>A (p.Leu1199=) c.3549G>A (p.Leu1183=) c.3318G>A (p.Leu1106=) c.3219G>A (p.Leu1073=) c.2400G>A (p.Leu800=) n.3951G>A | |
13 | g.51937648del | CA2695218765 | ATP7B | c.*1381del (n.*1381del) c.*2475del (n.*2475del) c.3110del (p.Leu1037ArgfsTer?) c.3731del (p.Leu1244ArgfsTer?) c.3398del (p.Leu1133ArgfsTer?) c.3479del (p.Leu1160ArgfsTer?) n.972del c.3497del (p.Leu1166ArgfsTer?) n.3870del n.597del c.2666del (p.Leu889ArgfsTer?) c.2441del (p.Leu814ArgfsTer?) c.3536del (p.Leu1179ArgfsTer?) c.1509del c.*832del (n.*832del) n.4475del n.3076del c.3587del (p.Leu1196ArgfsTer?) c.3635del (p.Leu1212ArgfsTer?) c.3695del (p.Leu1232ArgfsTer?) c.3245del (p.Leu1082ArgfsTer?) c.1547del (p.Leu516ArgfsTer?) c.1364del (p.Leu455ArgfsTer?) c.3596del (p.Leu1199ArgfsTer?) c.3548del (p.Leu1183ArgfsTer?) c.3317del (p.Leu1106ArgfsTer?) c.3218del (p.Leu1073ArgfsTer?) c.2399del (p.Leu800ArgfsTer?) n.3950del | |
13 | g.51937648A>C | CA388022439 | ATP7B | c.*1381T>G (n.*1381T>G) c.*2475T>G (n.*2475T>G) c.3110T>G (p.Leu1037Arg) c.3731T>G (p.Leu1244Arg) c.3398T>G (p.Leu1133Arg) c.3479T>G (p.Leu1160Arg) n.972T>G c.3497T>G (p.Leu1166Arg) n.3870T>G n.597T>G c.2666T>G (p.Leu889Arg) c.2441T>G (p.Leu814Arg) c.3536T>G (p.Leu1179Arg) c.1509T>G c.*832T>G (n.*832T>G) n.4475T>G n.3076T>G c.3587T>G (p.Leu1196Arg) c.3635T>G (p.Leu1212Arg) c.3695T>G (p.Leu1232Arg) c.3245T>G (p.Leu1082Arg) c.1547T>G (p.Leu516Arg) c.1364T>G (p.Leu455Arg) c.3596T>G (p.Leu1199Arg) c.3548T>G (p.Leu1183Arg) c.3317T>G (p.Leu1106Arg) c.3218T>G (p.Leu1073Arg) c.2399T>G (p.Leu800Arg) n.3950T>G | |
13 | g.51937648A>G | CA388022442 | ATP7B | c.*1381T>C (n.*1381T>C) c.*2475T>C (n.*2475T>C) c.3110T>C (p.Leu1037Pro) c.3731T>C (p.Leu1244Pro) c.3398T>C (p.Leu1133Pro) c.3479T>C (p.Leu1160Pro) n.972T>C c.3497T>C (p.Leu1166Pro) n.3870T>C n.597T>C c.2666T>C (p.Leu889Pro) c.2441T>C (p.Leu814Pro) c.3536T>C (p.Leu1179Pro) c.1509T>C c.*832T>C (n.*832T>C) n.4475T>C n.3076T>C c.3587T>C (p.Leu1196Pro) c.3635T>C (p.Leu1212Pro) c.3695T>C (p.Leu1232Pro) c.3245T>C (p.Leu1082Pro) c.1547T>C (p.Leu516Pro) c.1364T>C (p.Leu455Pro) c.3596T>C (p.Leu1199Pro) c.3548T>C (p.Leu1183Pro) c.3317T>C (p.Leu1106Pro) c.3218T>C (p.Leu1073Pro) c.2399T>C (p.Leu800Pro) n.3950T>C | ClinVar dbSNP |
13 | g.51937648A>T | CA388022445 | ATP7B | c.*1381T>A (n.*1381T>A) c.*2475T>A (n.*2475T>A) c.3110T>A (p.Leu1037Gln) c.3731T>A (p.Leu1244Gln) c.3398T>A (p.Leu1133Gln) c.3479T>A (p.Leu1160Gln) n.972T>A c.3497T>A (p.Leu1166Gln) n.3870T>A n.597T>A c.2666T>A (p.Leu889Gln) c.2441T>A (p.Leu814Gln) c.3536T>A (p.Leu1179Gln) c.1509T>A c.*832T>A (n.*832T>A) n.4475T>A n.3076T>A c.3587T>A (p.Leu1196Gln) c.3635T>A (p.Leu1212Gln) c.3695T>A (p.Leu1232Gln) c.3245T>A (p.Leu1082Gln) c.1547T>A (p.Leu516Gln) c.1364T>A (p.Leu455Gln) c.3596T>A (p.Leu1199Gln) c.3548T>A (p.Leu1183Gln) c.3317T>A (p.Leu1106Gln) c.3218T>A (p.Leu1073Gln) c.2399T>A (p.Leu800Gln) n.3950T>A | |
13 | g.51937649G>A | CA484024731 | ATP7B | c.*1380C>T (n.*1380C>T) c.*2474C>T (n.*2474C>T) c.3109C>T (p.Leu1037=) c.3730C>T (p.Leu1244=) c.3397C>T (p.Leu1133=) c.3478C>T (p.Leu1160=) n.971C>T c.3496C>T (p.Leu1166=) n.3869C>T n.596C>T c.2665C>T (p.Leu889=) c.2440C>T (p.Leu814=) c.3535C>T (p.Leu1179=) c.1508C>T c.*831C>T (n.*831C>T) n.4474C>T n.3075C>T c.3586C>T (p.Leu1196=) c.3634C>T (p.Leu1212=) c.3694C>T (p.Leu1232=) c.3244C>T (p.Leu1082=) c.1546C>T (p.Leu516=) c.1363C>T (p.Leu455=) c.3595C>T (p.Leu1199=) c.3547C>T (p.Leu1183=) c.3316C>T (p.Leu1106=) c.3217C>T (p.Leu1073=) c.2398C>T (p.Leu800=) n.3949C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937649G>C | CA388022459 | ATP7B | c.*1380C>G (n.*1380C>G) c.*2474C>G (n.*2474C>G) c.3109C>G (p.Leu1037Val) c.3730C>G (p.Leu1244Val) c.3397C>G (p.Leu1133Val) c.3478C>G (p.Leu1160Val) n.971C>G c.3496C>G (p.Leu1166Val) n.3869C>G n.596C>G c.2665C>G (p.Leu889Val) c.2440C>G (p.Leu814Val) c.3535C>G (p.Leu1179Val) c.1508C>G c.*831C>G (n.*831C>G) n.4474C>G n.3075C>G c.3586C>G (p.Leu1196Val) c.3634C>G (p.Leu1212Val) c.3694C>G (p.Leu1232Val) c.3244C>G (p.Leu1082Val) c.1546C>G (p.Leu516Val) c.1363C>G (p.Leu455Val) c.3595C>G (p.Leu1199Val) c.3547C>G (p.Leu1183Val) c.3316C>G (p.Leu1106Val) c.3217C>G (p.Leu1073Val) c.2398C>G (p.Leu800Val) n.3949C>G | |
13 | g.51937649G= | CA2091554265 | ATP7B | c.*1380C= (n.*1380C=) c.*2474C= (n.*2474C=) c.3109C= (p.Leu1037=) c.3730C= (p.Leu1244=) c.3397C= (p.Leu1133=) c.3478C= (p.Leu1160=) n.971C= c.3496C= (p.Leu1166=) n.3869C= n.596C= c.2665C= (p.Leu889=) c.2440C= (p.Leu814=) c.3535C= (p.Leu1179=) c.1508C= c.*831C= (n.*831C=) n.4474C= n.3075C= c.3586C= (p.Leu1196=) c.3634C= (p.Leu1212=) c.3694C= (p.Leu1232=) c.3244C= (p.Leu1082=) c.1546C= (p.Leu516=) c.1363C= (p.Leu455=) c.3595C= (p.Leu1199=) c.3547C= (p.Leu1183=) c.3316C= (p.Leu1106=) c.3217C= (p.Leu1073=) c.2398C= (p.Leu800=) n.3949C= | |
13 | g.51937649G>T | CA388022460 | ATP7B | c.*1380C>A (n.*1380C>A) c.*2474C>A (n.*2474C>A) c.3109C>A (p.Leu1037Met) c.3730C>A (p.Leu1244Met) c.3397C>A (p.Leu1133Met) c.3478C>A (p.Leu1160Met) n.971C>A c.3496C>A (p.Leu1166Met) n.3869C>A n.596C>A c.2665C>A (p.Leu889Met) c.2440C>A (p.Leu814Met) c.3535C>A (p.Leu1179Met) c.1508C>A c.*831C>A (n.*831C>A) n.4474C>A n.3075C>A c.3586C>A (p.Leu1196Met) c.3634C>A (p.Leu1212Met) c.3694C>A (p.Leu1232Met) c.3244C>A (p.Leu1082Met) c.1546C>A (p.Leu516Met) c.1363C>A (p.Leu455Met) c.3595C>A (p.Leu1199Met) c.3547C>A (p.Leu1183Met) c.3316C>A (p.Leu1106Met) c.3217C>A (p.Leu1073Met) c.2398C>A (p.Leu800Met) n.3949C>A | |
13 | g.51937650del | CA2623119368 | ATP7B | c.*1379del (n.*1379del) c.*2473del (n.*2473del) c.3108del (p.Leu1037CysfsTer?) c.3729del (p.Leu1244CysfsTer?) c.3396del (p.Leu1133CysfsTer?) c.3477del (p.Leu1160CysfsTer?) n.970del c.3495del (p.Leu1166CysfsTer?) n.3868del n.595del c.2664del (p.Leu889CysfsTer?) c.2439del (p.Leu814CysfsTer?) c.3534del (p.Leu1179CysfsTer?) c.1507del c.*830del (n.*830del) n.4473del n.3074del c.3585del (p.Leu1196CysfsTer?) c.3633del (p.Leu1212CysfsTer?) c.3693del (p.Leu1232CysfsTer?) c.3243del (p.Leu1082CysfsTer?) c.1545del (p.Leu516CysfsTer?) c.1362del (p.Leu455CysfsTer?) c.3594del (p.Leu1199CysfsTer?) c.3546del (p.Leu1183CysfsTer?) c.3315del (p.Leu1106CysfsTer?) c.3216del (p.Leu1073CysfsTer?) c.2397del (p.Leu800CysfsTer?) n.3948del | gnomAD v4 |
13 | g.51937650C>A | CA484024735 | ATP7B | c.*1379G>T (n.*1379G>T) c.*2473G>T (n.*2473G>T) c.3108G>T (p.Val1036=) c.3729G>T (p.Val1243=) c.3396G>T (p.Val1132=) c.3477G>T (p.Val1159=) n.970G>T c.3495G>T (p.Val1165=) n.3868G>T n.595G>T c.2664G>T (p.Val888=) c.2439G>T (p.Val813=) c.3534G>T (p.Val1178=) c.1507G>T c.*830G>T (n.*830G>T) n.4473G>T n.3074G>T c.3585G>T (p.Val1195=) c.3633G>T (p.Val1211=) c.3693G>T (p.Val1231=) c.3243G>T (p.Val1081=) c.1545G>T (p.Val515=) c.1362G>T (p.Val454=) c.3594G>T (p.Val1198=) c.3546G>T (p.Val1182=) c.3315G>T (p.Val1105=) c.3216G>T (p.Val1072=) c.2397G>T (p.Val799=) n.3948G>T | |
13 | g.51937650C= | CA2091554268 | ATP7B | c.*1379G= (n.*1379G=) c.*2473G= (n.*2473G=) c.3108G= (p.Val1036=) c.3729G= (p.Val1243=) c.3396G= (p.Val1132=) c.3477G= (p.Val1159=) n.970G= c.3495G= (p.Val1165=) n.3868G= n.595G= c.2664G= (p.Val888=) c.2439G= (p.Val813=) c.3534G= (p.Val1178=) c.1507G= c.*830G= (n.*830G=) n.4473G= n.3074G= c.3585G= (p.Val1195=) c.3633G= (p.Val1211=) c.3693G= (p.Val1231=) c.3243G= (p.Val1081=) c.1545G= (p.Val515=) c.1362G= (p.Val454=) c.3594G= (p.Val1198=) c.3546G= (p.Val1182=) c.3315G= (p.Val1105=) c.3216G= (p.Val1072=) c.2397G= (p.Val799=) n.3948G= | |
13 | g.51937650C>G | CA484024737 | ATP7B | c.*1379G>C (n.*1379G>C) c.*2473G>C (n.*2473G>C) c.3108G>C (p.Val1036=) c.3729G>C (p.Val1243=) c.3396G>C (p.Val1132=) c.3477G>C (p.Val1159=) n.970G>C c.3495G>C (p.Val1165=) n.3868G>C n.595G>C c.2664G>C (p.Val888=) c.2439G>C (p.Val813=) c.3534G>C (p.Val1178=) c.1507G>C c.*830G>C (n.*830G>C) n.4473G>C n.3074G>C c.3585G>C (p.Val1195=) c.3633G>C (p.Val1211=) c.3693G>C (p.Val1231=) c.3243G>C (p.Val1081=) c.1545G>C (p.Val515=) c.1362G>C (p.Val454=) c.3594G>C (p.Val1198=) c.3546G>C (p.Val1182=) c.3315G>C (p.Val1105=) c.3216G>C (p.Val1072=) c.2397G>C (p.Val799=) n.3948G>C | dbSNP |
13 | g.51937650C>T | CA484024738 | ATP7B | c.*1379G>A (n.*1379G>A) c.*2473G>A (n.*2473G>A) c.3108G>A (p.Val1036=) c.3729G>A (p.Val1243=) c.3396G>A (p.Val1132=) c.3477G>A (p.Val1159=) n.970G>A c.3495G>A (p.Val1165=) n.3868G>A n.595G>A c.2664G>A (p.Val888=) c.2439G>A (p.Val813=) c.3534G>A (p.Val1178=) c.1507G>A c.*830G>A (n.*830G>A) n.4473G>A n.3074G>A c.3585G>A (p.Val1195=) c.3633G>A (p.Val1211=) c.3693G>A (p.Val1231=) c.3243G>A (p.Val1081=) c.1545G>A (p.Val515=) c.1362G>A (p.Val454=) c.3594G>A (p.Val1198=) c.3546G>A (p.Val1182=) c.3315G>A (p.Val1105=) c.3216G>A (p.Val1072=) c.2397G>A (p.Val799=) n.3948G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51937651A= | CA2091554272 | ATP7B | c.*1378T= (n.*1378T=) c.*2472T= (n.*2472T=) c.3107T= (p.Val1036=) c.3728T= (p.Val1243=) c.3395T= (p.Val1132=) c.3476T= (p.Val1159=) n.969T= c.3494T= (p.Val1165=) n.3867T= n.594T= c.2663T= (p.Val888=) c.2438T= (p.Val813=) c.3533T= (p.Val1178=) c.1506T= c.*829T= (n.*829T=) n.4472T= n.3073T= c.3584T= (p.Val1195=) c.3632T= (p.Val1211=) c.3692T= (p.Val1231=) c.3242T= (p.Val1081=) c.1544T= (p.Val515=) c.1361T= (p.Val454=) c.3593T= (p.Val1198=) c.3545T= (p.Val1182=) c.3314T= (p.Val1105=) c.3215T= (p.Val1072=) c.2396T= (p.Val799=) n.3947T= | |
13 | g.51937651A>C | CA388022463 | ATP7B | c.*1378T>G (n.*1378T>G) c.*2472T>G (n.*2472T>G) c.3107T>G (p.Val1036Gly) c.3728T>G (p.Val1243Gly) c.3395T>G (p.Val1132Gly) c.3476T>G (p.Val1159Gly) n.969T>G c.3494T>G (p.Val1165Gly) n.3867T>G n.594T>G c.2663T>G (p.Val888Gly) c.2438T>G (p.Val813Gly) c.3533T>G (p.Val1178Gly) c.1506T>G c.*829T>G (n.*829T>G) n.4472T>G n.3073T>G c.3584T>G (p.Val1195Gly) c.3632T>G (p.Val1211Gly) c.3692T>G (p.Val1231Gly) c.3242T>G (p.Val1081Gly) c.1544T>G (p.Val515Gly) c.1361T>G (p.Val454Gly) c.3593T>G (p.Val1198Gly) c.3545T>G (p.Val1182Gly) c.3314T>G (p.Val1105Gly) c.3215T>G (p.Val1072Gly) c.2396T>G (p.Val799Gly) n.3947T>G | |
13 | g.51937651A>G | CA6988579 | ATP7B | c.*1378T>C (n.*1378T>C) c.*2472T>C (n.*2472T>C) c.3107T>C (p.Val1036Ala) c.3728T>C (p.Val1243Ala) c.3395T>C (p.Val1132Ala) c.3476T>C (p.Val1159Ala) n.969T>C c.3494T>C (p.Val1165Ala) n.3867T>C n.594T>C c.2663T>C (p.Val888Ala) c.2438T>C (p.Val813Ala) c.3533T>C (p.Val1178Ala) c.1506T>C c.*829T>C (n.*829T>C) n.4472T>C n.3073T>C c.3584T>C (p.Val1195Ala) c.3632T>C (p.Val1211Ala) c.3692T>C (p.Val1231Ala) c.3242T>C (p.Val1081Ala) c.1544T>C (p.Val515Ala) c.1361T>C (p.Val454Ala) c.3593T>C (p.Val1198Ala) c.3545T>C (p.Val1182Ala) c.3314T>C (p.Val1105Ala) c.3215T>C (p.Val1072Ala) c.2396T>C (p.Val799Ala) n.3947T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937651A>T | CA388022469 | ATP7B | c.*1378T>A (n.*1378T>A) c.*2472T>A (n.*2472T>A) c.3107T>A (p.Val1036Glu) c.3728T>A (p.Val1243Glu) c.3395T>A (p.Val1132Glu) c.3476T>A (p.Val1159Glu) n.969T>A c.3494T>A (p.Val1165Glu) n.3867T>A n.594T>A c.2663T>A (p.Val888Glu) c.2438T>A (p.Val813Glu) c.3533T>A (p.Val1178Glu) c.1506T>A c.*829T>A (n.*829T>A) n.4472T>A n.3073T>A c.3584T>A (p.Val1195Glu) c.3632T>A (p.Val1211Glu) c.3692T>A (p.Val1231Glu) c.3242T>A (p.Val1081Glu) c.1544T>A (p.Val515Glu) c.1361T>A (p.Val454Glu) c.3593T>A (p.Val1198Glu) c.3545T>A (p.Val1182Glu) c.3314T>A (p.Val1105Glu) c.3215T>A (p.Val1072Glu) c.2396T>A (p.Val799Glu) n.3947T>A | |
13 | g.51937651_51937652delinsAC | CA2091554275 | ATP7B | c.*1377_*1378delinsGT (n.*1377_*1378delinsGT) c.*2471_*2472delinsGT (n.*2471_*2472delinsGT) c.3106_3107delinsGT (p.Val1036=) c.3727_3728delinsGT (p.Val1243=) c.3394_3395delinsGT (p.Val1132=) c.3475_3476delinsGT (p.Val1159=) n.968_969delinsGT c.3493_3494delinsGT (p.Val1165=) n.3866_3867delinsGT n.593_594delinsGT c.2662_2663delinsGT (p.Val888=) c.2437_2438delinsGT (p.Val813=) c.3532_3533delinsGT (p.Val1178=) c.1505_1506delinsGT c.*828_*829delinsGT (n.*828_*829delinsGT) n.4471_4472delinsGT n.3072_3073delinsGT c.3583_3584delinsGT (p.Val1195=) c.3631_3632delinsGT (p.Val1211=) c.3691_3692delinsGT (p.Val1231=) c.3241_3242delinsGT (p.Val1081=) c.1543_1544delinsGT (p.Val515=) c.1360_1361delinsGT (p.Val454=) c.3592_3593delinsGT (p.Val1198=) c.3544_3545delinsGT (p.Val1182=) c.3313_3314delinsGT (p.Val1105=) c.3214_3215delinsGT (p.Val1072=) c.2395_2396delinsGT (p.Val799=) n.3946_3947delinsGT | |
13 | g.51937652C>A | CA388022480 | ATP7B | c.*1377G>T (n.*1377G>T) c.*2471G>T (n.*2471G>T) c.3106G>T (p.Val1036Leu) c.3727G>T (p.Val1243Leu) c.3394G>T (p.Val1132Leu) c.3475G>T (p.Val1159Leu) n.968G>T c.3493G>T (p.Val1165Leu) n.3866G>T n.593G>T c.2662G>T (p.Val888Leu) c.2437G>T (p.Val813Leu) c.3532G>T (p.Val1178Leu) c.1505G>T c.*828G>T (n.*828G>T) n.4471G>T n.3072G>T c.3583G>T (p.Val1195Leu) c.3631G>T (p.Val1211Leu) c.3691G>T (p.Val1231Leu) c.3241G>T (p.Val1081Leu) c.1543G>T (p.Val515Leu) c.1360G>T (p.Val454Leu) c.3592G>T (p.Val1198Leu) c.3544G>T (p.Val1182Leu) c.3313G>T (p.Val1105Leu) c.3214G>T (p.Val1072Leu) c.2395G>T (p.Val799Leu) n.3946G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937652C= | CA2091554278 | ATP7B | c.*1377G= (n.*1377G=) c.*2471G= (n.*2471G=) c.3106G= (p.Val1036=) c.3727G= (p.Val1243=) c.3394G= (p.Val1132=) c.3475G= (p.Val1159=) n.968G= c.3493G= (p.Val1165=) n.3866G= n.593G= c.2662G= (p.Val888=) c.2437G= (p.Val813=) c.3532G= (p.Val1178=) c.1505G= c.*828G= (n.*828G=) n.4471G= n.3072G= c.3583G= (p.Val1195=) c.3631G= (p.Val1211=) c.3691G= (p.Val1231=) c.3241G= (p.Val1081=) c.1543G= (p.Val515=) c.1360G= (p.Val454=) c.3592G= (p.Val1198=) c.3544G= (p.Val1182=) c.3313G= (p.Val1105=) c.3214G= (p.Val1072=) c.2395G= (p.Val799=) n.3946G= | |
13 | g.51937652C>G | CA388022477 | ATP7B | c.*1377G>C (n.*1377G>C) c.*2471G>C (n.*2471G>C) c.3106G>C (p.Val1036Leu) c.3727G>C (p.Val1243Leu) c.3394G>C (p.Val1132Leu) c.3475G>C (p.Val1159Leu) n.968G>C c.3493G>C (p.Val1165Leu) n.3866G>C n.593G>C c.2662G>C (p.Val888Leu) c.2437G>C (p.Val813Leu) c.3532G>C (p.Val1178Leu) c.1505G>C c.*828G>C (n.*828G>C) n.4471G>C n.3072G>C c.3583G>C (p.Val1195Leu) c.3631G>C (p.Val1211Leu) c.3691G>C (p.Val1231Leu) c.3241G>C (p.Val1081Leu) c.1543G>C (p.Val515Leu) c.1360G>C (p.Val454Leu) c.3592G>C (p.Val1198Leu) c.3544G>C (p.Val1182Leu) c.3313G>C (p.Val1105Leu) c.3214G>C (p.Val1072Leu) c.2395G>C (p.Val799Leu) n.3946G>C | |
13 | g.51937652C>T | CA388022475 | ATP7B | c.*1377G>A (n.*1377G>A) c.*2471G>A (n.*2471G>A) c.3106G>A (p.Val1036Met) c.3727G>A (p.Val1243Met) c.3394G>A (p.Val1132Met) c.3475G>A (p.Val1159Met) n.968G>A c.3493G>A (p.Val1165Met) n.3866G>A n.593G>A c.2662G>A (p.Val888Met) c.2437G>A (p.Val813Met) c.3532G>A (p.Val1178Met) c.1505G>A c.*828G>A (n.*828G>A) n.4471G>A n.3072G>A c.3583G>A (p.Val1195Met) c.3631G>A (p.Val1211Met) c.3691G>A (p.Val1231Met) c.3241G>A (p.Val1081Met) c.1543G>A (p.Val515Met) c.1360G>A (p.Val454Met) c.3592G>A (p.Val1198Met) c.3544G>A (p.Val1182Met) c.3313G>A (p.Val1105Met) c.3214G>A (p.Val1072Met) c.2395G>A (p.Val799Met) n.3946G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937653del | CA2091554277 | ATP7B | c.*1377del (n.*1377del) c.*2471del (n.*2471del) c.3106del (p.Val1036CysfsTer?) c.3727del (p.Val1243CysfsTer?) c.3394del (p.Val1132CysfsTer?) c.3475del (p.Val1159CysfsTer?) n.968del c.3493del (p.Val1165CysfsTer?) n.3866del n.593del c.2662del (p.Val888CysfsTer?) c.2437del (p.Val813CysfsTer?) c.3532del (p.Val1178CysfsTer?) c.1505del c.*828del (n.*828del) n.4471del n.3072del c.3583del (p.Val1195CysfsTer?) c.3631del (p.Val1211CysfsTer?) c.3691del (p.Val1231CysfsTer?) c.3241del (p.Val1081CysfsTer?) c.1543del (p.Val515CysfsTer?) c.1360del (p.Val454CysfsTer?) c.3592del (p.Val1198CysfsTer?) c.3544del (p.Val1182CysfsTer?) c.3313del (p.Val1105CysfsTer?) c.3214del (p.Val1072CysfsTer?) c.2395del (p.Val799CysfsTer?) n.3946del | ClinVar dbSNP gnomAD v4 |
13 | g.51937653C>A | CA388022483 | ATP7B | c.*1376G>T (n.*1376G>T) c.*2470G>T (n.*2470G>T) c.3105G>T (p.Glu1035Asp) c.3726G>T (p.Glu1242Asp) c.3393G>T (p.Glu1131Asp) c.3474G>T (p.Glu1158Asp) n.967G>T c.3492G>T (p.Glu1164Asp) n.3865G>T n.592G>T c.2661G>T (p.Glu887Asp) c.2436G>T (p.Glu812Asp) c.3531G>T (p.Glu1177Asp) c.1504G>T c.*827G>T (n.*827G>T) n.4470G>T n.3071G>T c.3582G>T (p.Glu1194Asp) c.3630G>T (p.Glu1210Asp) c.3690G>T (p.Glu1230Asp) c.3240G>T (p.Glu1080Asp) c.1542G>T (p.Glu514Asp) c.1359G>T (p.Glu453Asp) c.3591G>T (p.Glu1197Asp) c.3543G>T (p.Glu1181Asp) c.3312G>T (p.Glu1104Asp) c.3213G>T (p.Glu1071Asp) c.2394G>T (p.Glu798Asp) n.3945G>T | |
13 | g.51937653C= | CA2091554280 | ATP7B | c.*1376G= (n.*1376G=) c.*2470G= (n.*2470G=) c.3105G= (p.Glu1035=) c.3726G= (p.Glu1242=) c.3393G= (p.Glu1131=) c.3474G= (p.Glu1158=) n.967G= c.3492G= (p.Glu1164=) n.3865G= n.592G= c.2661G= (p.Glu887=) c.2436G= (p.Glu812=) c.3531G= (p.Glu1177=) c.1504G= c.*827G= (n.*827G=) n.4470G= n.3071G= c.3582G= (p.Glu1194=) c.3630G= (p.Glu1210=) c.3690G= (p.Glu1230=) c.3240G= (p.Glu1080=) c.1542G= (p.Glu514=) c.1359G= (p.Glu453=) c.3591G= (p.Glu1197=) c.3543G= (p.Glu1181=) c.3312G= (p.Glu1104=) c.3213G= (p.Glu1071=) c.2394G= (p.Glu798=) n.3945G= | |
13 | g.51937653C>G | CA388022485 | ATP7B | c.*1376G>C (n.*1376G>C) c.*2470G>C (n.*2470G>C) c.3105G>C (p.Glu1035Asp) c.3726G>C (p.Glu1242Asp) c.3393G>C (p.Glu1131Asp) c.3474G>C (p.Glu1158Asp) n.967G>C c.3492G>C (p.Glu1164Asp) n.3865G>C n.592G>C c.2661G>C (p.Glu887Asp) c.2436G>C (p.Glu812Asp) c.3531G>C (p.Glu1177Asp) c.1504G>C c.*827G>C (n.*827G>C) n.4470G>C n.3071G>C c.3582G>C (p.Glu1194Asp) c.3630G>C (p.Glu1210Asp) c.3690G>C (p.Glu1230Asp) c.3240G>C (p.Glu1080Asp) c.1542G>C (p.Glu514Asp) c.1359G>C (p.Glu453Asp) c.3591G>C (p.Glu1197Asp) c.3543G>C (p.Glu1181Asp) c.3312G>C (p.Glu1104Asp) c.3213G>C (p.Glu1071Asp) c.2394G>C (p.Glu798Asp) n.3945G>C | |
13 | g.51937653C>T | CA484024746 | ATP7B | c.*1376G>A (n.*1376G>A) c.*2470G>A (n.*2470G>A) c.3105G>A (p.Glu1035=) c.3726G>A (p.Glu1242=) c.3393G>A (p.Glu1131=) c.3474G>A (p.Glu1158=) n.967G>A c.3492G>A (p.Glu1164=) n.3865G>A n.592G>A c.2661G>A (p.Glu887=) c.2436G>A (p.Glu812=) c.3531G>A (p.Glu1177=) c.1504G>A c.*827G>A (n.*827G>A) n.4470G>A n.3071G>A c.3582G>A (p.Glu1194=) c.3630G>A (p.Glu1210=) c.3690G>A (p.Glu1230=) c.3240G>A (p.Glu1080=) c.1542G>A (p.Glu514=) c.1359G>A (p.Glu453=) c.3591G>A (p.Glu1197=) c.3543G>A (p.Glu1181=) c.3312G>A (p.Glu1104=) c.3213G>A (p.Glu1071=) c.2394G>A (p.Glu798=) n.3945G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51937654T>A | CA388022499 | ATP7B | c.*1375A>T (n.*1375A>T) c.*2469A>T (n.*2469A>T) c.3104A>T (p.Glu1035Val) c.3725A>T (p.Glu1242Val) c.3392A>T (p.Glu1131Val) c.3473A>T (p.Glu1158Val) n.966A>T c.3491A>T (p.Glu1164Val) n.3864A>T n.591A>T c.2660A>T (p.Glu887Val) c.2435A>T (p.Glu812Val) c.3530A>T (p.Glu1177Val) c.1503A>T c.*826A>T (n.*826A>T) n.4469A>T n.3070A>T c.3581A>T (p.Glu1194Val) c.3629A>T (p.Glu1210Val) c.3689A>T (p.Glu1230Val) c.3239A>T (p.Glu1080Val) c.1541A>T (p.Glu514Val) c.1358A>T (p.Glu453Val) c.3590A>T (p.Glu1197Val) c.3542A>T (p.Glu1181Val) c.3311A>T (p.Glu1104Val) c.3212A>T (p.Glu1071Val) c.2393A>T (p.Glu798Val) n.3944A>T | |
13 | g.51937654T>C | CA388022500 | ATP7B | c.*1375A>G (n.*1375A>G) c.*2469A>G (n.*2469A>G) c.3104A>G (p.Glu1035Gly) c.3725A>G (p.Glu1242Gly) c.3392A>G (p.Glu1131Gly) c.3473A>G (p.Glu1158Gly) n.966A>G c.3491A>G (p.Glu1164Gly) n.3864A>G n.591A>G c.2660A>G (p.Glu887Gly) c.2435A>G (p.Glu812Gly) c.3530A>G (p.Glu1177Gly) c.1503A>G c.*826A>G (n.*826A>G) n.4469A>G n.3070A>G c.3581A>G (p.Glu1194Gly) c.3629A>G (p.Glu1210Gly) c.3689A>G (p.Glu1230Gly) c.3239A>G (p.Glu1080Gly) c.1541A>G (p.Glu514Gly) c.1358A>G (p.Glu453Gly) c.3590A>G (p.Glu1197Gly) c.3542A>G (p.Glu1181Gly) c.3311A>G (p.Glu1104Gly) c.3212A>G (p.Glu1071Gly) c.2393A>G (p.Glu798Gly) n.3944A>G | ClinVar |
13 | g.51937654T>G | CA388022504 | ATP7B | c.*1375A>C (n.*1375A>C) c.*2469A>C (n.*2469A>C) c.3104A>C (p.Glu1035Ala) c.3725A>C (p.Glu1242Ala) c.3392A>C (p.Glu1131Ala) c.3473A>C (p.Glu1158Ala) n.966A>C c.3491A>C (p.Glu1164Ala) n.3864A>C n.591A>C c.2660A>C (p.Glu887Ala) c.2435A>C (p.Glu812Ala) c.3530A>C (p.Glu1177Ala) c.1503A>C c.*826A>C (n.*826A>C) n.4469A>C n.3070A>C c.3581A>C (p.Glu1194Ala) c.3629A>C (p.Glu1210Ala) c.3689A>C (p.Glu1230Ala) c.3239A>C (p.Glu1080Ala) c.1541A>C (p.Glu514Ala) c.1358A>C (p.Glu453Ala) c.3590A>C (p.Glu1197Ala) c.3542A>C (p.Glu1181Ala) c.3311A>C (p.Glu1104Ala) c.3212A>C (p.Glu1071Ala) c.2393A>C (p.Glu798Ala) n.3944A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937654T= | CA2091554283 | ATP7B | c.*1375A= (n.*1375A=) c.*2469A= (n.*2469A=) c.3104A= (p.Glu1035=) c.3725A= (p.Glu1242=) c.3392A= (p.Glu1131=) c.3473A= (p.Glu1158=) n.966A= c.3491A= (p.Glu1164=) n.3864A= n.591A= c.2660A= (p.Glu887=) c.2435A= (p.Glu812=) c.3530A= (p.Glu1177=) c.1503A= c.*826A= (n.*826A=) n.4469A= n.3070A= c.3581A= (p.Glu1194=) c.3629A= (p.Glu1210=) c.3689A= (p.Glu1230=) c.3239A= (p.Glu1080=) c.1541A= (p.Glu514=) c.1358A= (p.Glu453=) c.3590A= (p.Glu1197=) c.3542A= (p.Glu1181=) c.3311A= (p.Glu1104=) c.3212A= (p.Glu1071=) c.2393A= (p.Glu798=) n.3944A= | |
13 | g.51937655C>A | CA388022513 | ATP7B | c.*1374G>T (n.*1374G>T) c.*2468G>T (n.*2468G>T) c.3103G>T (p.Glu1035Ter) c.3724G>T (p.Glu1242Ter) c.3391G>T (p.Glu1131Ter) c.3472G>T (p.Glu1158Ter) n.965G>T c.3490G>T (p.Glu1164Ter) n.3863G>T n.590G>T c.2659G>T (p.Glu887Ter) c.2434G>T (p.Glu812Ter) c.3529G>T (p.Glu1177Ter) c.1502G>T c.*825G>T (n.*825G>T) n.4468G>T n.3069G>T c.3580G>T (p.Glu1194Ter) c.3628G>T (p.Glu1210Ter) c.3688G>T (p.Glu1230Ter) c.3238G>T (p.Glu1080Ter) c.1540G>T (p.Glu514Ter) c.1357G>T (p.Glu453Ter) c.3589G>T (p.Glu1197Ter) c.3541G>T (p.Glu1181Ter) c.3310G>T (p.Glu1104Ter) c.3211G>T (p.Glu1071Ter) c.2392G>T (p.Glu798Ter) n.3943G>T | gnomAD v4 |
13 | g.51937655C>G | CA388022517 | ATP7B | c.*1374G>C (n.*1374G>C) c.*2468G>C (n.*2468G>C) c.3103G>C (p.Glu1035Gln) c.3724G>C (p.Glu1242Gln) c.3391G>C (p.Glu1131Gln) c.3472G>C (p.Glu1158Gln) n.965G>C c.3490G>C (p.Glu1164Gln) n.3863G>C n.590G>C c.2659G>C (p.Glu887Gln) c.2434G>C (p.Glu812Gln) c.3529G>C (p.Glu1177Gln) c.1502G>C c.*825G>C (n.*825G>C) n.4468G>C n.3069G>C c.3580G>C (p.Glu1194Gln) c.3628G>C (p.Glu1210Gln) c.3688G>C (p.Glu1230Gln) c.3238G>C (p.Glu1080Gln) c.1540G>C (p.Glu514Gln) c.1357G>C (p.Glu453Gln) c.3589G>C (p.Glu1197Gln) c.3541G>C (p.Glu1181Gln) c.3310G>C (p.Glu1104Gln) c.3211G>C (p.Glu1071Gln) c.2392G>C (p.Glu798Gln) n.3943G>C | |
13 | g.51937655C>T | CA388022523 | ATP7B | c.*1374G>A (n.*1374G>A) c.*2468G>A (n.*2468G>A) c.3103G>A (p.Glu1035Lys) c.3724G>A (p.Glu1242Lys) c.3391G>A (p.Glu1131Lys) c.3472G>A (p.Glu1158Lys) n.965G>A c.3490G>A (p.Glu1164Lys) n.3863G>A n.590G>A c.2659G>A (p.Glu887Lys) c.2434G>A (p.Glu812Lys) c.3529G>A (p.Glu1177Lys) c.1502G>A c.*825G>A (n.*825G>A) n.4468G>A n.3069G>A c.3580G>A (p.Glu1194Lys) c.3628G>A (p.Glu1210Lys) c.3688G>A (p.Glu1230Lys) c.3238G>A (p.Glu1080Lys) c.1540G>A (p.Glu514Lys) c.1357G>A (p.Glu453Lys) c.3589G>A (p.Glu1197Lys) c.3541G>A (p.Glu1181Lys) c.3310G>A (p.Glu1104Lys) c.3211G>A (p.Glu1071Lys) c.2392G>A (p.Glu798Lys) n.3943G>A | gnomAD v4 |
13 | g.51937656T>A | CA484024754 | ATP7B | c.*1373A>T (n.*1373A>T) c.*2467A>T (n.*2467A>T) c.3102A>T (p.Ala1034=) c.3723A>T (p.Ala1241=) c.3390A>T (p.Ala1130=) c.3471A>T (p.Ala1157=) n.964A>T c.3489A>T (p.Ala1163=) n.3862A>T n.589A>T c.2658A>T (p.Ala886=) c.2433A>T (p.Ala811=) c.3528A>T (p.Ala1176=) c.1501A>T c.*824A>T (n.*824A>T) n.4467A>T n.3068A>T c.3579A>T (p.Ala1193=) c.3627A>T (p.Ala1209=) c.3687A>T (p.Ala1229=) c.3237A>T (p.Ala1079=) c.1539A>T (p.Ala513=) c.1356A>T (p.Ala452=) c.3588A>T (p.Ala1196=) c.3540A>T (p.Ala1180=) c.3309A>T (p.Ala1103=) c.3210A>T (p.Ala1070=) c.2391A>T (p.Ala797=) n.3942A>T | |
13 | g.51937656T>C | CA484024755 | ATP7B | c.*1373A>G (n.*1373A>G) c.*2467A>G (n.*2467A>G) c.3102A>G (p.Ala1034=) c.3723A>G (p.Ala1241=) c.3390A>G (p.Ala1130=) c.3471A>G (p.Ala1157=) n.964A>G c.3489A>G (p.Ala1163=) n.3862A>G n.589A>G c.2658A>G (p.Ala886=) c.2433A>G (p.Ala811=) c.3528A>G (p.Ala1176=) c.1501A>G c.*824A>G (n.*824A>G) n.4467A>G n.3068A>G c.3579A>G (p.Ala1193=) c.3627A>G (p.Ala1209=) c.3687A>G (p.Ala1229=) c.3237A>G (p.Ala1079=) c.1539A>G (p.Ala513=) c.1356A>G (p.Ala452=) c.3588A>G (p.Ala1196=) c.3540A>G (p.Ala1180=) c.3309A>G (p.Ala1103=) c.3210A>G (p.Ala1070=) c.2391A>G (p.Ala797=) n.3942A>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937656T>G | CA484024753 | ATP7B | c.*1373A>C (n.*1373A>C) c.*2467A>C (n.*2467A>C) c.3102A>C (p.Ala1034=) c.3723A>C (p.Ala1241=) c.3390A>C (p.Ala1130=) c.3471A>C (p.Ala1157=) n.964A>C c.3489A>C (p.Ala1163=) n.3862A>C n.589A>C c.2658A>C (p.Ala886=) c.2433A>C (p.Ala811=) c.3528A>C (p.Ala1176=) c.1501A>C c.*824A>C (n.*824A>C) n.4467A>C n.3068A>C c.3579A>C (p.Ala1193=) c.3627A>C (p.Ala1209=) c.3687A>C (p.Ala1229=) c.3237A>C (p.Ala1079=) c.1539A>C (p.Ala513=) c.1356A>C (p.Ala452=) c.3588A>C (p.Ala1196=) c.3540A>C (p.Ala1180=) c.3309A>C (p.Ala1103=) c.3210A>C (p.Ala1070=) c.2391A>C (p.Ala797=) n.3942A>C | |
13 | g.51937656T= | CA2091554284 | ATP7B | c.*1373A= (n.*1373A=) c.*2467A= (n.*2467A=) c.3102A= (p.Ala1034=) c.3723A= (p.Ala1241=) c.3390A= (p.Ala1130=) c.3471A= (p.Ala1157=) n.964A= c.3489A= (p.Ala1163=) n.3862A= n.589A= c.2658A= (p.Ala886=) c.2433A= (p.Ala811=) c.3528A= (p.Ala1176=) c.1501A= c.*824A= (n.*824A=) n.4467A= n.3068A= c.3579A= (p.Ala1193=) c.3627A= (p.Ala1209=) c.3687A= (p.Ala1229=) c.3237A= (p.Ala1079=) c.1539A= (p.Ala513=) c.1356A= (p.Ala452=) c.3588A= (p.Ala1196=) c.3540A= (p.Ala1180=) c.3309A= (p.Ala1103=) c.3210A= (p.Ala1070=) c.2391A= (p.Ala797=) n.3942A= | |
13 | g.51937657del | CA2623119377 | ATP7B | c.*1372del (n.*1372del) c.*2466del (n.*2466del) c.3101del (p.Ala1034GlufsTer?) c.3722del (p.Ala1241GlufsTer?) c.3389del (p.Ala1130GlufsTer?) c.3470del (p.Ala1157GlufsTer?) n.963del c.3488del (p.Ala1163GlufsTer?) n.3861del n.588del c.2657del (p.Ala886GlufsTer?) c.2432del (p.Ala811GlufsTer?) c.3527del (p.Ala1176GlufsTer?) c.1500del c.*823del (n.*823del) n.4466del n.3067del c.3578del (p.Ala1193GlufsTer?) c.3626del (p.Ala1209GlufsTer?) c.3686del (p.Ala1229GlufsTer?) c.3236del (p.Ala1079GlufsTer?) c.1538del (p.Ala513GlufsTer?) c.1355del (p.Ala452GlufsTer?) c.3587del (p.Ala1196GlufsTer?) c.3539del (p.Ala1180GlufsTer?) c.3308del (p.Ala1103GlufsTer?) c.3209del (p.Ala1070GlufsTer?) c.2390del (p.Ala797GlufsTer?) n.3941del | gnomAD v4 |
13 | g.51937657G>A | CA388022524 | ATP7B | c.*1372C>T (n.*1372C>T) c.*2466C>T (n.*2466C>T) c.3101C>T (p.Ala1034Val) c.3722C>T (p.Ala1241Val) c.3389C>T (p.Ala1130Val) c.3470C>T (p.Ala1157Val) n.963C>T c.3488C>T (p.Ala1163Val) n.3861C>T n.588C>T c.2657C>T (p.Ala886Val) c.2432C>T (p.Ala811Val) c.3527C>T (p.Ala1176Val) c.1500C>T c.*823C>T (n.*823C>T) n.4466C>T n.3067C>T c.3578C>T (p.Ala1193Val) c.3626C>T (p.Ala1209Val) c.3686C>T (p.Ala1229Val) c.3236C>T (p.Ala1079Val) c.1538C>T (p.Ala513Val) c.1355C>T (p.Ala452Val) c.3587C>T (p.Ala1196Val) c.3539C>T (p.Ala1180Val) c.3308C>T (p.Ala1103Val) c.3209C>T (p.Ala1070Val) c.2390C>T (p.Ala797Val) n.3941C>T | ClinVar dbSNP gnomAD v4 |
13 | g.51937657G>C | CA388022526 | ATP7B | c.*1372C>G (n.*1372C>G) c.*2466C>G (n.*2466C>G) c.3101C>G (p.Ala1034Gly) c.3722C>G (p.Ala1241Gly) c.3389C>G (p.Ala1130Gly) c.3470C>G (p.Ala1157Gly) n.963C>G c.3488C>G (p.Ala1163Gly) n.3861C>G n.588C>G c.2657C>G (p.Ala886Gly) c.2432C>G (p.Ala811Gly) c.3527C>G (p.Ala1176Gly) c.1500C>G c.*823C>G (n.*823C>G) n.4466C>G n.3067C>G c.3578C>G (p.Ala1193Gly) c.3626C>G (p.Ala1209Gly) c.3686C>G (p.Ala1229Gly) c.3236C>G (p.Ala1079Gly) c.1538C>G (p.Ala513Gly) c.1355C>G (p.Ala452Gly) c.3587C>G (p.Ala1196Gly) c.3539C>G (p.Ala1180Gly) c.3308C>G (p.Ala1103Gly) c.3209C>G (p.Ala1070Gly) c.2390C>G (p.Ala797Gly) n.3941C>G | |
13 | g.51937657G= | CA2091554288 | ATP7B | c.*1372C= (n.*1372C=) c.*2466C= (n.*2466C=) c.3101C= (p.Ala1034=) c.3722C= (p.Ala1241=) c.3389C= (p.Ala1130=) c.3470C= (p.Ala1157=) n.963C= c.3488C= (p.Ala1163=) n.3861C= n.588C= c.2657C= (p.Ala886=) c.2432C= (p.Ala811=) c.3527C= (p.Ala1176=) c.1500C= c.*823C= (n.*823C=) n.4466C= n.3067C= c.3578C= (p.Ala1193=) c.3626C= (p.Ala1209=) c.3686C= (p.Ala1229=) c.3236C= (p.Ala1079=) c.1538C= (p.Ala513=) c.1355C= (p.Ala452=) c.3587C= (p.Ala1196=) c.3539C= (p.Ala1180=) c.3308C= (p.Ala1103=) c.3209C= (p.Ala1070=) c.2390C= (p.Ala797=) n.3941C= | |
13 | g.51937657G>T | CA388022530 | ATP7B | c.*1372C>A (n.*1372C>A) c.*2466C>A (n.*2466C>A) c.3101C>A (p.Ala1034Glu) c.3722C>A (p.Ala1241Glu) c.3389C>A (p.Ala1130Glu) c.3470C>A (p.Ala1157Glu) n.963C>A c.3488C>A (p.Ala1163Glu) n.3861C>A n.588C>A c.2657C>A (p.Ala886Glu) c.2432C>A (p.Ala811Glu) c.3527C>A (p.Ala1176Glu) c.1500C>A c.*823C>A (n.*823C>A) n.4466C>A n.3067C>A c.3578C>A (p.Ala1193Glu) c.3626C>A (p.Ala1209Glu) c.3686C>A (p.Ala1229Glu) c.3236C>A (p.Ala1079Glu) c.1538C>A (p.Ala513Glu) c.1355C>A (p.Ala452Glu) c.3587C>A (p.Ala1196Glu) c.3539C>A (p.Ala1180Glu) c.3308C>A (p.Ala1103Glu) c.3209C>A (p.Ala1070Glu) c.2390C>A (p.Ala797Glu) n.3941C>A | |
13 | g.51937658C>A | CA388022544 | ATP7B | c.*1371G>T (n.*1371G>T) c.*2465G>T (n.*2465G>T) c.3100G>T (p.Ala1034Ser) c.3721G>T (p.Ala1241Ser) c.3388G>T (p.Ala1130Ser) c.3469G>T (p.Ala1157Ser) n.962G>T c.3487G>T (p.Ala1163Ser) n.3860G>T n.587G>T c.2656G>T (p.Ala886Ser) c.2431G>T (p.Ala811Ser) c.3526G>T (p.Ala1176Ser) c.1499G>T c.*822G>T (n.*822G>T) n.4465G>T n.3066G>T c.3577G>T (p.Ala1193Ser) c.3625G>T (p.Ala1209Ser) c.3685G>T (p.Ala1229Ser) c.3235G>T (p.Ala1079Ser) c.1537G>T (p.Ala513Ser) c.1354G>T (p.Ala452Ser) c.3586G>T (p.Ala1196Ser) c.3538G>T (p.Ala1180Ser) c.3307G>T (p.Ala1103Ser) c.3208G>T (p.Ala1070Ser) c.2389G>T (p.Ala797Ser) n.3940G>T | |
13 | g.51937658C>G | CA388022549 | ATP7B | c.*1371G>C (n.*1371G>C) c.*2465G>C (n.*2465G>C) c.3100G>C (p.Ala1034Pro) c.3721G>C (p.Ala1241Pro) c.3388G>C (p.Ala1130Pro) c.3469G>C (p.Ala1157Pro) n.962G>C c.3487G>C (p.Ala1163Pro) n.3860G>C n.587G>C c.2656G>C (p.Ala886Pro) c.2431G>C (p.Ala811Pro) c.3526G>C (p.Ala1176Pro) c.1499G>C c.*822G>C (n.*822G>C) n.4465G>C n.3066G>C c.3577G>C (p.Ala1193Pro) c.3625G>C (p.Ala1209Pro) c.3685G>C (p.Ala1229Pro) c.3235G>C (p.Ala1079Pro) c.1537G>C (p.Ala513Pro) c.1354G>C (p.Ala452Pro) c.3586G>C (p.Ala1196Pro) c.3538G>C (p.Ala1180Pro) c.3307G>C (p.Ala1103Pro) c.3208G>C (p.Ala1070Pro) c.2389G>C (p.Ala797Pro) n.3940G>C | |
13 | g.51937658C>T | CA388022539 | ATP7B | c.*1371G>A (n.*1371G>A) c.*2465G>A (n.*2465G>A) c.3100G>A (p.Ala1034Thr) c.3721G>A (p.Ala1241Thr) c.3388G>A (p.Ala1130Thr) c.3469G>A (p.Ala1157Thr) n.962G>A c.3487G>A (p.Ala1163Thr) n.3860G>A n.587G>A c.2656G>A (p.Ala886Thr) c.2431G>A (p.Ala811Thr) c.3526G>A (p.Ala1176Thr) c.1499G>A c.*822G>A (n.*822G>A) n.4465G>A n.3066G>A c.3577G>A (p.Ala1193Thr) c.3625G>A (p.Ala1209Thr) c.3685G>A (p.Ala1229Thr) c.3235G>A (p.Ala1079Thr) c.1537G>A (p.Ala513Thr) c.1354G>A (p.Ala452Thr) c.3586G>A (p.Ala1196Thr) c.3538G>A (p.Ala1180Thr) c.3307G>A (p.Ala1103Thr) c.3208G>A (p.Ala1070Thr) c.2389G>A (p.Ala797Thr) n.3940G>A | gnomAD v4 |
13 | g.51937659A= | CA2091554294 | ATP7B | c.*1370T= (n.*1370T=) c.*2464T= (n.*2464T=) c.3099T= (p.Phe1033=) c.3720T= (p.Phe1240=) c.3387T= (p.Phe1129=) c.3468T= (p.Phe1156=) n.961T= c.3486T= (p.Phe1162=) n.3859T= n.586T= c.2655T= (p.Phe885=) c.2430T= (p.Phe810=) c.3525T= (p.Phe1175=) c.1498T= c.*821T= (n.*821T=) n.4464T= n.3065T= c.3576T= (p.Phe1192=) c.3624T= (p.Phe1208=) c.3684T= (p.Phe1228=) c.3234T= (p.Phe1078=) c.1536T= (p.Phe512=) c.1353T= (p.Phe451=) c.3585T= (p.Phe1195=) c.3537T= (p.Phe1179=) c.3306T= (p.Phe1102=) c.3207T= (p.Phe1069=) c.2388T= (p.Phe796=) n.3939T= | |
13 | g.51937659A>C | CA388022552 | ATP7B | c.*1370T>G (n.*1370T>G) c.*2464T>G (n.*2464T>G) c.3099T>G (p.Phe1033Leu) c.3720T>G (p.Phe1240Leu) c.3387T>G (p.Phe1129Leu) c.3468T>G (p.Phe1156Leu) n.961T>G c.3486T>G (p.Phe1162Leu) n.3859T>G n.586T>G c.2655T>G (p.Phe885Leu) c.2430T>G (p.Phe810Leu) c.3525T>G (p.Phe1175Leu) c.1498T>G c.*821T>G (n.*821T>G) n.4464T>G n.3065T>G c.3576T>G (p.Phe1192Leu) c.3624T>G (p.Phe1208Leu) c.3684T>G (p.Phe1228Leu) c.3234T>G (p.Phe1078Leu) c.1536T>G (p.Phe512Leu) c.1353T>G (p.Phe451Leu) c.3585T>G (p.Phe1195Leu) c.3537T>G (p.Phe1179Leu) c.3306T>G (p.Phe1102Leu) c.3207T>G (p.Phe1069Leu) c.2388T>G (p.Phe796Leu) n.3939T>G | |
13 | g.51937659A>G | CA250073822 | ATP7B | c.*1370T>C (n.*1370T>C) c.*2464T>C (n.*2464T>C) c.3099T>C (p.Phe1033=) c.3720T>C (p.Phe1240=) c.3387T>C (p.Phe1129=) c.3468T>C (p.Phe1156=) n.961T>C c.3486T>C (p.Phe1162=) n.3859T>C n.586T>C c.2655T>C (p.Phe885=) c.2430T>C (p.Phe810=) c.3525T>C (p.Phe1175=) c.1498T>C c.*821T>C (n.*821T>C) n.4464T>C n.3065T>C c.3576T>C (p.Phe1192=) c.3624T>C (p.Phe1208=) c.3684T>C (p.Phe1228=) c.3234T>C (p.Phe1078=) c.1536T>C (p.Phe512=) c.1353T>C (p.Phe451=) c.3585T>C (p.Phe1195=) c.3537T>C (p.Phe1179=) c.3306T>C (p.Phe1102=) c.3207T>C (p.Phe1069=) c.2388T>C (p.Phe796=) n.3939T>C | ClinVar dbSNP gnomAD v4 |
13 | g.51937659A>T | CA388022560 | ATP7B | c.*1370T>A (n.*1370T>A) c.*2464T>A (n.*2464T>A) c.3099T>A (p.Phe1033Leu) c.3720T>A (p.Phe1240Leu) c.3387T>A (p.Phe1129Leu) c.3468T>A (p.Phe1156Leu) n.961T>A c.3486T>A (p.Phe1162Leu) n.3859T>A n.586T>A c.2655T>A (p.Phe885Leu) c.2430T>A (p.Phe810Leu) c.3525T>A (p.Phe1175Leu) c.1498T>A c.*821T>A (n.*821T>A) n.4464T>A n.3065T>A c.3576T>A (p.Phe1192Leu) c.3624T>A (p.Phe1208Leu) c.3684T>A (p.Phe1228Leu) c.3234T>A (p.Phe1078Leu) c.1536T>A (p.Phe512Leu) c.1353T>A (p.Phe451Leu) c.3585T>A (p.Phe1195Leu) c.3537T>A (p.Phe1179Leu) c.3306T>A (p.Phe1102Leu) c.3207T>A (p.Phe1069Leu) c.2388T>A (p.Phe796Leu) n.3939T>A | |
13 | g.51937660A>C | CA388022565 | ATP7B | c.*1369T>G (n.*1369T>G) c.*2463T>G (n.*2463T>G) c.3098T>G (p.Phe1033Cys) c.3719T>G (p.Phe1240Cys) c.3386T>G (p.Phe1129Cys) c.3467T>G (p.Phe1156Cys) n.960T>G c.3485T>G (p.Phe1162Cys) n.3858T>G n.585T>G c.2654T>G (p.Phe885Cys) c.2429T>G (p.Phe810Cys) c.3524T>G (p.Phe1175Cys) c.1497T>G c.*820T>G (n.*820T>G) n.4463T>G n.3064T>G c.3575T>G (p.Phe1192Cys) c.3623T>G (p.Phe1208Cys) c.3683T>G (p.Phe1228Cys) c.3233T>G (p.Phe1078Cys) c.1535T>G (p.Phe512Cys) c.1352T>G (p.Phe451Cys) c.3584T>G (p.Phe1195Cys) c.3536T>G (p.Phe1179Cys) c.3305T>G (p.Phe1102Cys) c.3206T>G (p.Phe1069Cys) c.2387T>G (p.Phe796Cys) n.3938T>G | |
13 | g.51937660A>G | CA388022568 | ATP7B | c.*1369T>C (n.*1369T>C) c.*2463T>C (n.*2463T>C) c.3098T>C (p.Phe1033Ser) c.3719T>C (p.Phe1240Ser) c.3386T>C (p.Phe1129Ser) c.3467T>C (p.Phe1156Ser) n.960T>C c.3485T>C (p.Phe1162Ser) n.3858T>C n.585T>C c.2654T>C (p.Phe885Ser) c.2429T>C (p.Phe810Ser) c.3524T>C (p.Phe1175Ser) c.1497T>C c.*820T>C (n.*820T>C) n.4463T>C n.3064T>C c.3575T>C (p.Phe1192Ser) c.3623T>C (p.Phe1208Ser) c.3683T>C (p.Phe1228Ser) c.3233T>C (p.Phe1078Ser) c.1535T>C (p.Phe512Ser) c.1352T>C (p.Phe451Ser) c.3584T>C (p.Phe1195Ser) c.3536T>C (p.Phe1179Ser) c.3305T>C (p.Phe1102Ser) c.3206T>C (p.Phe1069Ser) c.2387T>C (p.Phe796Ser) n.3938T>C | |
13 | g.51937660A>T | CA388022570 | ATP7B | c.*1369T>A (n.*1369T>A) c.*2463T>A (n.*2463T>A) c.3098T>A (p.Phe1033Tyr) c.3719T>A (p.Phe1240Tyr) c.3386T>A (p.Phe1129Tyr) c.3467T>A (p.Phe1156Tyr) n.960T>A c.3485T>A (p.Phe1162Tyr) n.3858T>A n.585T>A c.2654T>A (p.Phe885Tyr) c.2429T>A (p.Phe810Tyr) c.3524T>A (p.Phe1175Tyr) c.1497T>A c.*820T>A (n.*820T>A) n.4463T>A n.3064T>A c.3575T>A (p.Phe1192Tyr) c.3623T>A (p.Phe1208Tyr) c.3683T>A (p.Phe1228Tyr) c.3233T>A (p.Phe1078Tyr) c.1535T>A (p.Phe512Tyr) c.1352T>A (p.Phe451Tyr) c.3584T>A (p.Phe1195Tyr) c.3536T>A (p.Phe1179Tyr) c.3305T>A (p.Phe1102Tyr) c.3206T>A (p.Phe1069Tyr) c.2387T>A (p.Phe796Tyr) n.3938T>A | |
13 | g.51937661A>C | CA388022572 | ATP7B | c.*1368T>G (n.*1368T>G) c.*2462T>G (n.*2462T>G) c.3097T>G (p.Phe1033Val) c.3718T>G (p.Phe1240Val) c.3385T>G (p.Phe1129Val) c.3466T>G (p.Phe1156Val) n.959T>G c.3484T>G (p.Phe1162Val) n.3857T>G n.584T>G c.2653T>G (p.Phe885Val) c.2428T>G (p.Phe810Val) c.3523T>G (p.Phe1175Val) c.1496T>G c.*819T>G (n.*819T>G) n.4462T>G n.3063T>G c.3574T>G (p.Phe1192Val) c.3622T>G (p.Phe1208Val) c.3682T>G (p.Phe1228Val) c.3232T>G (p.Phe1078Val) c.1534T>G (p.Phe512Val) c.1351T>G (p.Phe451Val) c.3583T>G (p.Phe1195Val) c.3535T>G (p.Phe1179Val) c.3304T>G (p.Phe1102Val) c.3205T>G (p.Phe1069Val) c.2386T>G (p.Phe796Val) n.3937T>G | |
13 | g.51937661A>G | CA388022574 | ATP7B | c.*1368T>C (n.*1368T>C) c.*2462T>C (n.*2462T>C) c.3097T>C (p.Phe1033Leu) c.3718T>C (p.Phe1240Leu) c.3385T>C (p.Phe1129Leu) c.3466T>C (p.Phe1156Leu) n.959T>C c.3484T>C (p.Phe1162Leu) n.3857T>C n.584T>C c.2653T>C (p.Phe885Leu) c.2428T>C (p.Phe810Leu) c.3523T>C (p.Phe1175Leu) c.1496T>C c.*819T>C (n.*819T>C) n.4462T>C n.3063T>C c.3574T>C (p.Phe1192Leu) c.3622T>C (p.Phe1208Leu) c.3682T>C (p.Phe1228Leu) c.3232T>C (p.Phe1078Leu) c.1534T>C (p.Phe512Leu) c.1351T>C (p.Phe451Leu) c.3583T>C (p.Phe1195Leu) c.3535T>C (p.Phe1179Leu) c.3304T>C (p.Phe1102Leu) c.3205T>C (p.Phe1069Leu) c.2386T>C (p.Phe796Leu) n.3937T>C | |
13 | g.51937661A>T | CA388022575 | ATP7B | c.*1368T>A (n.*1368T>A) c.*2462T>A (n.*2462T>A) c.3097T>A (p.Phe1033Ile) c.3718T>A (p.Phe1240Ile) c.3385T>A (p.Phe1129Ile) c.3466T>A (p.Phe1156Ile) n.959T>A c.3484T>A (p.Phe1162Ile) n.3857T>A n.584T>A c.2653T>A (p.Phe885Ile) c.2428T>A (p.Phe810Ile) c.3523T>A (p.Phe1175Ile) c.1496T>A c.*819T>A (n.*819T>A) n.4462T>A n.3063T>A c.3574T>A (p.Phe1192Ile) c.3622T>A (p.Phe1208Ile) c.3682T>A (p.Phe1228Ile) c.3232T>A (p.Phe1078Ile) c.1534T>A (p.Phe512Ile) c.1351T>A (p.Phe451Ile) c.3583T>A (p.Phe1195Ile) c.3535T>A (p.Phe1179Ile) c.3304T>A (p.Phe1102Ile) c.3205T>A (p.Phe1069Ile) c.2386T>A (p.Phe796Ile) n.3937T>A | |
13 | g.51937662G>A | CA484024768 | ATP7B | c.*1367C>T (n.*1367C>T) c.*2461C>T (n.*2461C>T) c.3096C>T (p.Val1032=) c.3717C>T (p.Val1239=) c.3384C>T (p.Val1128=) c.3465C>T (p.Val1155=) n.958C>T c.3483C>T (p.Val1161=) n.3856C>T n.583C>T c.2652C>T (p.Val884=) c.2427C>T (p.Val809=) c.3522C>T (p.Val1174=) c.1495C>T c.*818C>T (n.*818C>T) n.4461C>T n.3062C>T c.3573C>T (p.Val1191=) c.3621C>T (p.Val1207=) c.3681C>T (p.Val1227=) c.3231C>T (p.Val1077=) c.1533C>T (p.Val511=) c.1350C>T (p.Val450=) c.3582C>T (p.Val1194=) c.3534C>T (p.Val1178=) c.3303C>T (p.Val1101=) c.3204C>T (p.Val1068=) c.2385C>T (p.Val795=) n.3936C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937662G>C | CA484024770 | ATP7B | c.*1367C>G (n.*1367C>G) c.*2461C>G (n.*2461C>G) c.3096C>G (p.Val1032=) c.3717C>G (p.Val1239=) c.3384C>G (p.Val1128=) c.3465C>G (p.Val1155=) n.958C>G c.3483C>G (p.Val1161=) n.3856C>G n.583C>G c.2652C>G (p.Val884=) c.2427C>G (p.Val809=) c.3522C>G (p.Val1174=) c.1495C>G c.*818C>G (n.*818C>G) n.4461C>G n.3062C>G c.3573C>G (p.Val1191=) c.3621C>G (p.Val1207=) c.3681C>G (p.Val1227=) c.3231C>G (p.Val1077=) c.1533C>G (p.Val511=) c.1350C>G (p.Val450=) c.3582C>G (p.Val1194=) c.3534C>G (p.Val1178=) c.3303C>G (p.Val1101=) c.3204C>G (p.Val1068=) c.2385C>G (p.Val795=) n.3936C>G | |
13 | g.51937662G= | CA2091554298 | ATP7B | c.*1367C= (n.*1367C=) c.*2461C= (n.*2461C=) c.3096C= (p.Val1032=) c.3717C= (p.Val1239=) c.3384C= (p.Val1128=) c.3465C= (p.Val1155=) n.958C= c.3483C= (p.Val1161=) n.3856C= n.583C= c.2652C= (p.Val884=) c.2427C= (p.Val809=) c.3522C= (p.Val1174=) c.1495C= c.*818C= (n.*818C=) n.4461C= n.3062C= c.3573C= (p.Val1191=) c.3621C= (p.Val1207=) c.3681C= (p.Val1227=) c.3231C= (p.Val1077=) c.1533C= (p.Val511=) c.1350C= (p.Val450=) c.3582C= (p.Val1194=) c.3534C= (p.Val1178=) c.3303C= (p.Val1101=) c.3204C= (p.Val1068=) c.2385C= (p.Val795=) n.3936C= | |
13 | g.51937662G>T | CA484024769 | ATP7B | c.*1367C>A (n.*1367C>A) c.*2461C>A (n.*2461C>A) c.3096C>A (p.Val1032=) c.3717C>A (p.Val1239=) c.3384C>A (p.Val1128=) c.3465C>A (p.Val1155=) n.958C>A c.3483C>A (p.Val1161=) n.3856C>A n.583C>A c.2652C>A (p.Val884=) c.2427C>A (p.Val809=) c.3522C>A (p.Val1174=) c.1495C>A c.*818C>A (n.*818C>A) n.4461C>A n.3062C>A c.3573C>A (p.Val1191=) c.3621C>A (p.Val1207=) c.3681C>A (p.Val1227=) c.3231C>A (p.Val1077=) c.1533C>A (p.Val511=) c.1350C>A (p.Val450=) c.3582C>A (p.Val1194=) c.3534C>A (p.Val1178=) c.3303C>A (p.Val1101=) c.3204C>A (p.Val1068=) c.2385C>A (p.Val795=) n.3936C>A | COSMIC |
13 | g.51937663A= | CA2091554303 | ATP7B | c.*1366T= (n.*1366T=) c.*2460T= (n.*2460T=) c.3095T= (p.Val1032=) c.3716T= (p.Val1239=) c.3383T= (p.Val1128=) c.3464T= (p.Val1155=) n.957T= c.3482T= (p.Val1161=) n.3855T= n.582T= c.2651T= (p.Val884=) c.2426T= (p.Val809=) c.3521T= (p.Val1174=) c.1494T= c.*817T= (n.*817T=) n.4460T= n.3061T= c.3572T= (p.Val1191=) c.3620T= (p.Val1207=) c.3680T= (p.Val1227=) c.3230T= (p.Val1077=) c.1532T= (p.Val511=) c.1349T= (p.Val450=) c.3581T= (p.Val1194=) c.3533T= (p.Val1178=) c.3302T= (p.Val1101=) c.3203T= (p.Val1068=) c.2384T= (p.Val795=) n.3935T= | |
13 | g.51937663A>C | CA6988580 | ATP7B | c.*1366T>G (n.*1366T>G) c.*2460T>G (n.*2460T>G) c.3095T>G (p.Val1032Gly) c.3716T>G (p.Val1239Gly) c.3383T>G (p.Val1128Gly) c.3464T>G (p.Val1155Gly) n.957T>G c.3482T>G (p.Val1161Gly) n.3855T>G n.582T>G c.2651T>G (p.Val884Gly) c.2426T>G (p.Val809Gly) c.3521T>G (p.Val1174Gly) c.1494T>G c.*817T>G (n.*817T>G) n.4460T>G n.3061T>G c.3572T>G (p.Val1191Gly) c.3620T>G (p.Val1207Gly) c.3680T>G (p.Val1227Gly) c.3230T>G (p.Val1077Gly) c.1532T>G (p.Val511Gly) c.1349T>G (p.Val450Gly) c.3581T>G (p.Val1194Gly) c.3533T>G (p.Val1178Gly) c.3302T>G (p.Val1101Gly) c.3203T>G (p.Val1068Gly) c.2384T>G (p.Val795Gly) n.3935T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937663A>G | CA388022578 | ATP7B | c.*1366T>C (n.*1366T>C) c.*2460T>C (n.*2460T>C) c.3095T>C (p.Val1032Ala) c.3716T>C (p.Val1239Ala) c.3383T>C (p.Val1128Ala) c.3464T>C (p.Val1155Ala) n.957T>C c.3482T>C (p.Val1161Ala) n.3855T>C n.582T>C c.2651T>C (p.Val884Ala) c.2426T>C (p.Val809Ala) c.3521T>C (p.Val1174Ala) c.1494T>C c.*817T>C (n.*817T>C) n.4460T>C n.3061T>C c.3572T>C (p.Val1191Ala) c.3620T>C (p.Val1207Ala) c.3680T>C (p.Val1227Ala) c.3230T>C (p.Val1077Ala) c.1532T>C (p.Val511Ala) c.1349T>C (p.Val450Ala) c.3581T>C (p.Val1194Ala) c.3533T>C (p.Val1178Ala) c.3302T>C (p.Val1101Ala) c.3203T>C (p.Val1068Ala) c.2384T>C (p.Val795Ala) n.3935T>C | |
13 | g.51937663A>T | CA388022581 | ATP7B | c.*1366T>A (n.*1366T>A) c.*2460T>A (n.*2460T>A) c.3095T>A (p.Val1032Asp) c.3716T>A (p.Val1239Asp) c.3383T>A (p.Val1128Asp) c.3464T>A (p.Val1155Asp) n.957T>A c.3482T>A (p.Val1161Asp) n.3855T>A n.582T>A c.2651T>A (p.Val884Asp) c.2426T>A (p.Val809Asp) c.3521T>A (p.Val1174Asp) c.1494T>A c.*817T>A (n.*817T>A) n.4460T>A n.3061T>A c.3572T>A (p.Val1191Asp) c.3620T>A (p.Val1207Asp) c.3680T>A (p.Val1227Asp) c.3230T>A (p.Val1077Asp) c.1532T>A (p.Val511Asp) c.1349T>A (p.Val450Asp) c.3581T>A (p.Val1194Asp) c.3533T>A (p.Val1178Asp) c.3302T>A (p.Val1101Asp) c.3203T>A (p.Val1068Asp) c.2384T>A (p.Val795Asp) n.3935T>A | |
13 | g.51937663_51937664delinsAC | CA2091554305 | ATP7B | c.*1365_*1366delinsGT (n.*1365_*1366delinsGT) c.*2459_*2460delinsGT (n.*2459_*2460delinsGT) c.3094_3095delinsGT (p.Val1032=) c.3715_3716delinsGT (p.Val1239=) c.3382_3383delinsGT (p.Val1128=) c.3463_3464delinsGT (p.Val1155=) n.956_957delinsGT c.3481_3482delinsGT (p.Val1161=) n.3854_3855delinsGT n.581_582delinsGT c.2650_2651delinsGT (p.Val884=) c.2425_2426delinsGT (p.Val809=) c.3520_3521delinsGT (p.Val1174=) c.1493_1494delinsGT c.*816_*817delinsGT (n.*816_*817delinsGT) n.4459_4460delinsGT n.3060_3061delinsGT c.3571_3572delinsGT (p.Val1191=) c.3619_3620delinsGT (p.Val1207=) c.3679_3680delinsGT (p.Val1227=) c.3229_3230delinsGT (p.Val1077=) c.1531_1532delinsGT (p.Val511=) c.1348_1349delinsGT (p.Val450=) c.3580_3581delinsGT (p.Val1194=) c.3532_3533delinsGT (p.Val1178=) c.3301_3302delinsGT (p.Val1101=) c.3202_3203delinsGT (p.Val1068=) c.2383_2384delinsGT (p.Val795=) n.3934_3935delinsGT | |
13 | g.51937664del | CA2091554308 | ATP7B | c.*1365del (n.*1365del) c.*2459del (n.*2459del) c.3094del (p.Val1032SerfsTer?) c.3715del (p.Val1239SerfsTer?) c.3382del (p.Val1128SerfsTer?) c.3463del (p.Val1155SerfsTer?) n.956del c.3481del (p.Val1161SerfsTer?) n.3854del n.581del c.2650del (p.Val884SerfsTer?) c.2425del (p.Val809SerfsTer?) c.3520del (p.Val1174SerfsTer?) c.1493del c.*816del (n.*816del) n.4459del n.3060del c.3571del (p.Val1191SerfsTer?) c.3619del (p.Val1207SerfsTer?) c.3679del (p.Val1227SerfsTer?) c.3229del (p.Val1077SerfsTer?) c.1531del (p.Val511SerfsTer?) c.1348del (p.Val450SerfsTer?) c.3580del (p.Val1194SerfsTer?) c.3532del (p.Val1178SerfsTer?) c.3301del (p.Val1101SerfsTer?) c.3202del (p.Val1068SerfsTer?) c.2383del (p.Val795SerfsTer?) n.3934del | dbSNP |
13 | g.51937664C>A | CA6988581 | ATP7B | c.*1365G>T (n.*1365G>T) c.*2459G>T (n.*2459G>T) c.3094G>T (p.Val1032Phe) c.3715G>T (p.Val1239Phe) c.3382G>T (p.Val1128Phe) c.3463G>T (p.Val1155Phe) n.956G>T c.3481G>T (p.Val1161Phe) n.3854G>T n.581G>T c.2650G>T (p.Val884Phe) c.2425G>T (p.Val809Phe) c.3520G>T (p.Val1174Phe) c.1493G>T c.*816G>T (n.*816G>T) n.4459G>T n.3060G>T c.3571G>T (p.Val1191Phe) c.3619G>T (p.Val1207Phe) c.3679G>T (p.Val1227Phe) c.3229G>T (p.Val1077Phe) c.1531G>T (p.Val511Phe) c.1348G>T (p.Val450Phe) c.3580G>T (p.Val1194Phe) c.3532G>T (p.Val1178Phe) c.3301G>T (p.Val1101Phe) c.3202G>T (p.Val1068Phe) c.2383G>T (p.Val795Phe) n.3934G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937664C= | CA2091554310 | ATP7B | c.*1365G= (n.*1365G=) c.*2459G= (n.*2459G=) c.3094G= (p.Val1032=) c.3715G= (p.Val1239=) c.3382G= (p.Val1128=) c.3463G= (p.Val1155=) n.956G= c.3481G= (p.Val1161=) n.3854G= n.581G= c.2650G= (p.Val884=) c.2425G= (p.Val809=) c.3520G= (p.Val1174=) c.1493G= c.*816G= (n.*816G=) n.4459G= n.3060G= c.3571G= (p.Val1191=) c.3619G= (p.Val1207=) c.3679G= (p.Val1227=) c.3229G= (p.Val1077=) c.1531G= (p.Val511=) c.1348G= (p.Val450=) c.3580G= (p.Val1194=) c.3532G= (p.Val1178=) c.3301G= (p.Val1101=) c.3202G= (p.Val1068=) c.2383G= (p.Val795=) n.3934G= | |
13 | g.51937664C>G | CA388022587 | ATP7B | c.*1365G>C (n.*1365G>C) c.*2459G>C (n.*2459G>C) c.3094G>C (p.Val1032Leu) c.3715G>C (p.Val1239Leu) c.3382G>C (p.Val1128Leu) c.3463G>C (p.Val1155Leu) n.956G>C c.3481G>C (p.Val1161Leu) n.3854G>C n.581G>C c.2650G>C (p.Val884Leu) c.2425G>C (p.Val809Leu) c.3520G>C (p.Val1174Leu) c.1493G>C c.*816G>C (n.*816G>C) n.4459G>C n.3060G>C c.3571G>C (p.Val1191Leu) c.3619G>C (p.Val1207Leu) c.3679G>C (p.Val1227Leu) c.3229G>C (p.Val1077Leu) c.1531G>C (p.Val511Leu) c.1348G>C (p.Val450Leu) c.3580G>C (p.Val1194Leu) c.3532G>C (p.Val1178Leu) c.3301G>C (p.Val1101Leu) c.3202G>C (p.Val1068Leu) c.2383G>C (p.Val795Leu) n.3934G>C | |
13 | g.51937664C>T | CA388022590 | ATP7B | c.*1365G>A (n.*1365G>A) c.*2459G>A (n.*2459G>A) c.3094G>A (p.Val1032Ile) c.3715G>A (p.Val1239Ile) c.3382G>A (p.Val1128Ile) c.3463G>A (p.Val1155Ile) n.956G>A c.3481G>A (p.Val1161Ile) n.3854G>A n.581G>A c.2650G>A (p.Val884Ile) c.2425G>A (p.Val809Ile) c.3520G>A (p.Val1174Ile) c.1493G>A c.*816G>A (n.*816G>A) n.4459G>A n.3060G>A c.3571G>A (p.Val1191Ile) c.3619G>A (p.Val1207Ile) c.3679G>A (p.Val1227Ile) c.3229G>A (p.Val1077Ile) c.1531G>A (p.Val511Ile) c.1348G>A (p.Val450Ile) c.3580G>A (p.Val1194Ile) c.3532G>A (p.Val1178Ile) c.3301G>A (p.Val1101Ile) c.3202G>A (p.Val1068Ile) c.2383G>A (p.Val795Ile) n.3934G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937664_51937666delinsCTT | CA2091554313 | ATP7B | c.*1363_*1365delinsAAG (n.*1363_*1365delinsAAG) c.*2457_*2459delinsAAG (n.*2457_*2459delinsAAG) c.3092_3094delinsAAG (p.Lys1031=) c.3713_3715delinsAAG (p.Lys1238=) c.3380_3382delinsAAG (p.Lys1127=) c.3461_3463delinsAAG (p.Lys1154=) n.954_956delinsAAG c.3479_3481delinsAAG (p.Lys1160=) n.3852_3854delinsAAG n.579_581delinsAAG c.2648_2650delinsAAG (p.Lys883=) c.2423_2425delinsAAG (p.Lys808=) c.3518_3520delinsAAG (p.Lys1173=) c.1491_1493delinsAAG c.*814_*816delinsAAG (n.*814_*816delinsAAG) n.4457_4459delinsAAG n.3058_3060delinsAAG c.3569_3571delinsAAG (p.Lys1190=) c.3617_3619delinsAAG (p.Lys1206=) c.3677_3679delinsAAG (p.Lys1226=) c.3227_3229delinsAAG (p.Lys1076=) c.1529_1531delinsAAG (p.Lys510=) c.1346_1348delinsAAG (p.Lys449=) c.3578_3580delinsAAG (p.Lys1193=) c.3530_3532delinsAAG (p.Lys1177=) c.3299_3301delinsAAG (p.Lys1100=) c.3200_3202delinsAAG (p.Lys1067=) c.2381_2383delinsAAG (p.Lys794=) n.3932_3934delinsAAG | |
13 | g.51937665T>A | CA388022594 | ATP7B | c.*1364A>T (n.*1364A>T) c.*2458A>T (n.*2458A>T) c.3093A>T (p.Lys1031Asn) c.3714A>T (p.Lys1238Asn) c.3381A>T (p.Lys1127Asn) c.3462A>T (p.Lys1154Asn) n.955A>T c.3480A>T (p.Lys1160Asn) n.3853A>T n.580A>T c.2649A>T (p.Lys883Asn) c.2424A>T (p.Lys808Asn) c.3519A>T (p.Lys1173Asn) c.1492A>T c.*815A>T (n.*815A>T) n.4458A>T n.3059A>T c.3570A>T (p.Lys1190Asn) c.3618A>T (p.Lys1206Asn) c.3678A>T (p.Lys1226Asn) c.3228A>T (p.Lys1076Asn) c.1530A>T (p.Lys510Asn) c.1347A>T (p.Lys449Asn) c.3579A>T (p.Lys1193Asn) c.3531A>T (p.Lys1177Asn) c.3300A>T (p.Lys1100Asn) c.3201A>T (p.Lys1067Asn) c.2382A>T (p.Lys794Asn) n.3933A>T | |
13 | g.51937665T>C | CA484024777 | ATP7B | c.*1364A>G (n.*1364A>G) c.*2458A>G (n.*2458A>G) c.3093A>G (p.Lys1031=) c.3714A>G (p.Lys1238=) c.3381A>G (p.Lys1127=) c.3462A>G (p.Lys1154=) n.955A>G c.3480A>G (p.Lys1160=) n.3853A>G n.580A>G c.2649A>G (p.Lys883=) c.2424A>G (p.Lys808=) c.3519A>G (p.Lys1173=) c.1492A>G c.*815A>G (n.*815A>G) n.4458A>G n.3059A>G c.3570A>G (p.Lys1190=) c.3618A>G (p.Lys1206=) c.3678A>G (p.Lys1226=) c.3228A>G (p.Lys1076=) c.1530A>G (p.Lys510=) c.1347A>G (p.Lys449=) c.3579A>G (p.Lys1193=) c.3531A>G (p.Lys1177=) c.3300A>G (p.Lys1100=) c.3201A>G (p.Lys1067=) c.2382A>G (p.Lys794=) n.3933A>G | |
13 | g.51937665T>G | CA388022595 | ATP7B | c.*1364A>C (n.*1364A>C) c.*2458A>C (n.*2458A>C) c.3093A>C (p.Lys1031Asn) c.3714A>C (p.Lys1238Asn) c.3381A>C (p.Lys1127Asn) c.3462A>C (p.Lys1154Asn) n.955A>C c.3480A>C (p.Lys1160Asn) n.3853A>C n.580A>C c.2649A>C (p.Lys883Asn) c.2424A>C (p.Lys808Asn) c.3519A>C (p.Lys1173Asn) c.1492A>C c.*815A>C (n.*815A>C) n.4458A>C n.3059A>C c.3570A>C (p.Lys1190Asn) c.3618A>C (p.Lys1206Asn) c.3678A>C (p.Lys1226Asn) c.3228A>C (p.Lys1076Asn) c.1530A>C (p.Lys510Asn) c.1347A>C (p.Lys449Asn) c.3579A>C (p.Lys1193Asn) c.3531A>C (p.Lys1177Asn) c.3300A>C (p.Lys1100Asn) c.3201A>C (p.Lys1067Asn) c.2382A>C (p.Lys794Asn) n.3933A>C | gnomAD v4 |
13 | g.51937666_51937667del | CA2091554317 | ATP7B | c.*1363_*1364del (n.*1363_*1364del) c.*2457_*2458del (n.*2457_*2458del) c.3092_3093del (p.Lys1031SerfsTer20) c.3713_3714del (p.Lys1238SerfsTer20) c.3380_3381del (p.Lys1127SerfsTer20) c.3461_3462del (p.Lys1154SerfsTer20) n.954_955del c.3479_3480del (p.Lys1160SerfsTer20) n.3852_3853del n.579_580del c.2648_2649del (p.Lys883SerfsTer20) c.2423_2424del (p.Lys808SerfsTer20) c.3518_3519del (p.Lys1173SerfsTer20) c.1491_1492del c.*814_*815del (n.*814_*815del) n.4457_4458del n.3058_3059del c.3569_3570del (p.Lys1190SerfsTer20) c.3617_3618del (p.Lys1206SerfsTer20) c.3677_3678del (p.Lys1226SerfsTer20) c.3227_3228del (p.Lys1076SerfsTer20) c.1529_1530del (p.Lys510SerfsTer20) c.1346_1347del (p.Lys449SerfsTer20) c.3578_3579del (p.Lys1193SerfsTer20) c.3530_3531del (p.Lys1177SerfsTer20) c.3299_3300del (p.Lys1100SerfsTer20) c.3200_3201del (p.Lys1067SerfsTer20) c.2381_2382del (p.Lys794SerfsTer20) n.3932_3933del | dbSNP |
13 | g.51937666T>A | CA388022596 | ATP7B | c.*1363A>T (n.*1363A>T) c.*2457A>T (n.*2457A>T) c.3092A>T (p.Lys1031Ile) c.3713A>T (p.Lys1238Ile) c.3380A>T (p.Lys1127Ile) c.3461A>T (p.Lys1154Ile) n.954A>T c.3479A>T (p.Lys1160Ile) n.3852A>T n.579A>T c.2648A>T (p.Lys883Ile) c.2423A>T (p.Lys808Ile) c.3518A>T (p.Lys1173Ile) c.1491A>T c.*814A>T (n.*814A>T) n.4457A>T n.3058A>T c.3569A>T (p.Lys1190Ile) c.3617A>T (p.Lys1206Ile) c.3677A>T (p.Lys1226Ile) c.3227A>T (p.Lys1076Ile) c.1529A>T (p.Lys510Ile) c.1346A>T (p.Lys449Ile) c.3578A>T (p.Lys1193Ile) c.3530A>T (p.Lys1177Ile) c.3299A>T (p.Lys1100Ile) c.3200A>T (p.Lys1067Ile) c.2381A>T (p.Lys794Ile) n.3932A>T | |
13 | g.51937666T>C | CA388022600 | ATP7B | c.*1363A>G (n.*1363A>G) c.*2457A>G (n.*2457A>G) c.3092A>G (p.Lys1031Arg) c.3713A>G (p.Lys1238Arg) c.3380A>G (p.Lys1127Arg) c.3461A>G (p.Lys1154Arg) n.954A>G c.3479A>G (p.Lys1160Arg) n.3852A>G n.579A>G c.2648A>G (p.Lys883Arg) c.2423A>G (p.Lys808Arg) c.3518A>G (p.Lys1173Arg) c.1491A>G c.*814A>G (n.*814A>G) n.4457A>G n.3058A>G c.3569A>G (p.Lys1190Arg) c.3617A>G (p.Lys1206Arg) c.3677A>G (p.Lys1226Arg) c.3227A>G (p.Lys1076Arg) c.1529A>G (p.Lys510Arg) c.1346A>G (p.Lys449Arg) c.3578A>G (p.Lys1193Arg) c.3530A>G (p.Lys1177Arg) c.3299A>G (p.Lys1100Arg) c.3200A>G (p.Lys1067Arg) c.2381A>G (p.Lys794Arg) n.3932A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937666T>G | CA388022601 | ATP7B | c.*1363A>C (n.*1363A>C) c.*2457A>C (n.*2457A>C) c.3092A>C (p.Lys1031Thr) c.3713A>C (p.Lys1238Thr) c.3380A>C (p.Lys1127Thr) c.3461A>C (p.Lys1154Thr) n.954A>C c.3479A>C (p.Lys1160Thr) n.3852A>C n.579A>C c.2648A>C (p.Lys883Thr) c.2423A>C (p.Lys808Thr) c.3518A>C (p.Lys1173Thr) c.1491A>C c.*814A>C (n.*814A>C) n.4457A>C n.3058A>C c.3569A>C (p.Lys1190Thr) c.3617A>C (p.Lys1206Thr) c.3677A>C (p.Lys1226Thr) c.3227A>C (p.Lys1076Thr) c.1529A>C (p.Lys510Thr) c.1346A>C (p.Lys449Thr) c.3578A>C (p.Lys1193Thr) c.3530A>C (p.Lys1177Thr) c.3299A>C (p.Lys1100Thr) c.3200A>C (p.Lys1067Thr) c.2381A>C (p.Lys794Thr) n.3932A>C | |
13 | g.51937666T= | CA2091554321 | ATP7B | c.*1363A= (n.*1363A=) c.*2457A= (n.*2457A=) c.3092A= (p.Lys1031=) c.3713A= (p.Lys1238=) c.3380A= (p.Lys1127=) c.3461A= (p.Lys1154=) n.954A= c.3479A= (p.Lys1160=) n.3852A= n.579A= c.2648A= (p.Lys883=) c.2423A= (p.Lys808=) c.3518A= (p.Lys1173=) c.1491A= c.*814A= (n.*814A=) n.4457A= n.3058A= c.3569A= (p.Lys1190=) c.3617A= (p.Lys1206=) c.3677A= (p.Lys1226=) c.3227A= (p.Lys1076=) c.1529A= (p.Lys510=) c.1346A= (p.Lys449=) c.3578A= (p.Lys1193=) c.3530A= (p.Lys1177=) c.3299A= (p.Lys1100=) c.3200A= (p.Lys1067=) c.2381A= (p.Lys794=) n.3932A= | |
13 | g.51937667T>A | CA388022610 | ATP7B | c.*1362A>T (n.*1362A>T) c.*2456A>T (n.*2456A>T) c.3091A>T (p.Lys1031Ter) c.3712A>T (p.Lys1238Ter) c.3379A>T (p.Lys1127Ter) c.3460A>T (p.Lys1154Ter) n.953A>T c.3478A>T (p.Lys1160Ter) n.3851A>T n.578A>T c.2647A>T (p.Lys883Ter) c.2422A>T (p.Lys808Ter) c.3517A>T (p.Lys1173Ter) c.1490A>T c.*813A>T (n.*813A>T) n.4456A>T n.3057A>T c.3568A>T (p.Lys1190Ter) c.3616A>T (p.Lys1206Ter) c.3676A>T (p.Lys1226Ter) c.3226A>T (p.Lys1076Ter) c.1528A>T (p.Lys510Ter) c.1345A>T (p.Lys449Ter) c.3577A>T (p.Lys1193Ter) c.3529A>T (p.Lys1177Ter) c.3298A>T (p.Lys1100Ter) c.3199A>T (p.Lys1067Ter) c.2380A>T (p.Lys794Ter) n.3931A>T | |
13 | g.51937667T>C | CA388022613 | ATP7B | c.*1362A>G (n.*1362A>G) c.*2456A>G (n.*2456A>G) c.3091A>G (p.Lys1031Glu) c.3712A>G (p.Lys1238Glu) c.3379A>G (p.Lys1127Glu) c.3460A>G (p.Lys1154Glu) n.953A>G c.3478A>G (p.Lys1160Glu) n.3851A>G n.578A>G c.2647A>G (p.Lys883Glu) c.2422A>G (p.Lys808Glu) c.3517A>G (p.Lys1173Glu) c.1490A>G c.*813A>G (n.*813A>G) n.4456A>G n.3057A>G c.3568A>G (p.Lys1190Glu) c.3616A>G (p.Lys1206Glu) c.3676A>G (p.Lys1226Glu) c.3226A>G (p.Lys1076Glu) c.1528A>G (p.Lys510Glu) c.1345A>G (p.Lys449Glu) c.3577A>G (p.Lys1193Glu) c.3529A>G (p.Lys1177Glu) c.3298A>G (p.Lys1100Glu) c.3199A>G (p.Lys1067Glu) c.2380A>G (p.Lys794Glu) n.3931A>G | gnomAD v4 |
13 | g.51937667T>G | CA388022614 | ATP7B | c.*1362A>C (n.*1362A>C) c.*2456A>C (n.*2456A>C) c.3091A>C (p.Lys1031Gln) c.3712A>C (p.Lys1238Gln) c.3379A>C (p.Lys1127Gln) c.3460A>C (p.Lys1154Gln) n.953A>C c.3478A>C (p.Lys1160Gln) n.3851A>C n.578A>C c.2647A>C (p.Lys883Gln) c.2422A>C (p.Lys808Gln) c.3517A>C (p.Lys1173Gln) c.1490A>C c.*813A>C (n.*813A>C) n.4456A>C n.3057A>C c.3568A>C (p.Lys1190Gln) c.3616A>C (p.Lys1206Gln) c.3676A>C (p.Lys1226Gln) c.3226A>C (p.Lys1076Gln) c.1528A>C (p.Lys510Gln) c.1345A>C (p.Lys449Gln) c.3577A>C (p.Lys1193Gln) c.3529A>C (p.Lys1177Gln) c.3298A>C (p.Lys1100Gln) c.3199A>C (p.Lys1067Gln) c.2380A>C (p.Lys794Gln) n.3931A>C | dbSNP |
13 | g.51937668G>A | CA484024783 | ATP7B | c.*1361C>T (n.*1361C>T) c.*2455C>T (n.*2455C>T) c.3090C>T (p.Asn1030=) c.3711C>T (p.Asn1237=) c.3378C>T (p.Asn1126=) c.3459C>T (p.Asn1153=) n.952C>T c.3477C>T (p.Asn1159=) n.3850C>T n.577C>T c.2646C>T (p.Asn882=) c.2421C>T (p.Asn807=) c.3516C>T (p.Asn1172=) c.1489C>T c.*812C>T (n.*812C>T) n.4455C>T n.3056C>T c.3567C>T (p.Asn1189=) c.3615C>T (p.Asn1205=) c.3675C>T (p.Asn1225=) c.3225C>T (p.Asn1075=) c.1527C>T (p.Asn509=) c.1344C>T (p.Asn448=) c.3576C>T (p.Asn1192=) c.3528C>T (p.Asn1176=) c.3297C>T (p.Asn1099=) c.3198C>T (p.Asn1066=) c.2379C>T (p.Asn793=) n.3930C>T | gnomAD v4 |
13 | g.51937668G>C | CA388022615 | ATP7B | c.*1361C>G (n.*1361C>G) c.*2455C>G (n.*2455C>G) c.3090C>G (p.Asn1030Lys) c.3711C>G (p.Asn1237Lys) c.3378C>G (p.Asn1126Lys) c.3459C>G (p.Asn1153Lys) n.952C>G c.3477C>G (p.Asn1159Lys) n.3850C>G n.577C>G c.2646C>G (p.Asn882Lys) c.2421C>G (p.Asn807Lys) c.3516C>G (p.Asn1172Lys) c.1489C>G c.*812C>G (n.*812C>G) n.4455C>G n.3056C>G c.3567C>G (p.Asn1189Lys) c.3615C>G (p.Asn1205Lys) c.3675C>G (p.Asn1225Lys) c.3225C>G (p.Asn1075Lys) c.1527C>G (p.Asn509Lys) c.1344C>G (p.Asn448Lys) c.3576C>G (p.Asn1192Lys) c.3528C>G (p.Asn1176Lys) c.3297C>G (p.Asn1099Lys) c.3198C>G (p.Asn1066Lys) c.2379C>G (p.Asn793Lys) n.3930C>G | |
13 | g.51937668G>T | CA388022616 | ATP7B | c.*1361C>A (n.*1361C>A) c.*2455C>A (n.*2455C>A) c.3090C>A (p.Asn1030Lys) c.3711C>A (p.Asn1237Lys) c.3378C>A (p.Asn1126Lys) c.3459C>A (p.Asn1153Lys) n.952C>A c.3477C>A (p.Asn1159Lys) n.3850C>A n.577C>A c.2646C>A (p.Asn882Lys) c.2421C>A (p.Asn807Lys) c.3516C>A (p.Asn1172Lys) c.1489C>A c.*812C>A (n.*812C>A) n.4455C>A n.3056C>A c.3567C>A (p.Asn1189Lys) c.3615C>A (p.Asn1205Lys) c.3675C>A (p.Asn1225Lys) c.3225C>A (p.Asn1075Lys) c.1527C>A (p.Asn509Lys) c.1344C>A (p.Asn448Lys) c.3576C>A (p.Asn1192Lys) c.3528C>A (p.Asn1176Lys) c.3297C>A (p.Asn1099Lys) c.3198C>A (p.Asn1066Lys) c.2379C>A (p.Asn793Lys) n.3930C>A | |
13 | g.51937669T>A | CA388022617 | ATP7B | c.*1360A>T (n.*1360A>T) c.*2454A>T (n.*2454A>T) c.3089A>T (p.Asn1030Ile) c.3710A>T (p.Asn1237Ile) c.3377A>T (p.Asn1126Ile) c.3458A>T (p.Asn1153Ile) n.951A>T c.3476A>T (p.Asn1159Ile) n.3849A>T n.576A>T c.2645A>T (p.Asn882Ile) c.2420A>T (p.Asn807Ile) c.3515A>T (p.Asn1172Ile) c.1488A>T c.*811A>T (n.*811A>T) n.4454A>T n.3055A>T c.3566A>T (p.Asn1189Ile) c.3614A>T (p.Asn1205Ile) c.3674A>T (p.Asn1225Ile) c.3224A>T (p.Asn1075Ile) c.1526A>T (p.Asn509Ile) c.1343A>T (p.Asn448Ile) c.3575A>T (p.Asn1192Ile) c.3527A>T (p.Asn1176Ile) c.3296A>T (p.Asn1099Ile) c.3197A>T (p.Asn1066Ile) c.2378A>T (p.Asn793Ile) n.3929A>T | |
13 | g.51937669T>C | CA388022618 | ATP7B | c.*1360A>G (n.*1360A>G) c.*2454A>G (n.*2454A>G) c.3089A>G (p.Asn1030Ser) c.3710A>G (p.Asn1237Ser) c.3377A>G (p.Asn1126Ser) c.3458A>G (p.Asn1153Ser) n.951A>G c.3476A>G (p.Asn1159Ser) n.3849A>G n.576A>G c.2645A>G (p.Asn882Ser) c.2420A>G (p.Asn807Ser) c.3515A>G (p.Asn1172Ser) c.1488A>G c.*811A>G (n.*811A>G) n.4454A>G n.3055A>G c.3566A>G (p.Asn1189Ser) c.3614A>G (p.Asn1205Ser) c.3674A>G (p.Asn1225Ser) c.3224A>G (p.Asn1075Ser) c.1526A>G (p.Asn509Ser) c.1343A>G (p.Asn448Ser) c.3575A>G (p.Asn1192Ser) c.3527A>G (p.Asn1176Ser) c.3296A>G (p.Asn1099Ser) c.3197A>G (p.Asn1066Ser) c.2378A>G (p.Asn793Ser) n.3929A>G | |
13 | g.51937669T>G | CA388022620 | ATP7B | c.*1360A>C (n.*1360A>C) c.*2454A>C (n.*2454A>C) c.3089A>C (p.Asn1030Thr) c.3710A>C (p.Asn1237Thr) c.3377A>C (p.Asn1126Thr) c.3458A>C (p.Asn1153Thr) n.951A>C c.3476A>C (p.Asn1159Thr) n.3849A>C n.576A>C c.2645A>C (p.Asn882Thr) c.2420A>C (p.Asn807Thr) c.3515A>C (p.Asn1172Thr) c.1488A>C c.*811A>C (n.*811A>C) n.4454A>C n.3055A>C c.3566A>C (p.Asn1189Thr) c.3614A>C (p.Asn1205Thr) c.3674A>C (p.Asn1225Thr) c.3224A>C (p.Asn1075Thr) c.1526A>C (p.Asn509Thr) c.1343A>C (p.Asn448Thr) c.3575A>C (p.Asn1192Thr) c.3527A>C (p.Asn1176Thr) c.3296A>C (p.Asn1099Thr) c.3197A>C (p.Asn1066Thr) c.2378A>C (p.Asn793Thr) n.3929A>C | |
13 | g.51937670T>A | CA388022626 | ATP7B | c.*1359A>T (n.*1359A>T) c.*2453A>T (n.*2453A>T) c.3088A>T (p.Asn1030Tyr) c.3709A>T (p.Asn1237Tyr) c.3376A>T (p.Asn1126Tyr) c.3457A>T (p.Asn1153Tyr) n.950A>T c.3475A>T (p.Asn1159Tyr) n.3848A>T n.575A>T c.2644A>T (p.Asn882Tyr) c.2419A>T (p.Asn807Tyr) c.3514A>T (p.Asn1172Tyr) c.1487A>T c.*810A>T (n.*810A>T) n.4453A>T n.3054A>T c.3565A>T (p.Asn1189Tyr) c.3613A>T (p.Asn1205Tyr) c.3673A>T (p.Asn1225Tyr) c.3223A>T (p.Asn1075Tyr) c.1525A>T (p.Asn509Tyr) c.1342A>T (p.Asn448Tyr) c.3574A>T (p.Asn1192Tyr) c.3526A>T (p.Asn1176Tyr) c.3295A>T (p.Asn1099Tyr) c.3196A>T (p.Asn1066Tyr) c.2377A>T (p.Asn793Tyr) n.3928A>T | |
13 | g.51937670T>C | CA388022630 | ATP7B | c.*1359A>G (n.*1359A>G) c.*2453A>G (n.*2453A>G) c.3088A>G (p.Asn1030Asp) c.3709A>G (p.Asn1237Asp) c.3376A>G (p.Asn1126Asp) c.3457A>G (p.Asn1153Asp) n.950A>G c.3475A>G (p.Asn1159Asp) n.3848A>G n.575A>G c.2644A>G (p.Asn882Asp) c.2419A>G (p.Asn807Asp) c.3514A>G (p.Asn1172Asp) c.1487A>G c.*810A>G (n.*810A>G) n.4453A>G n.3054A>G c.3565A>G (p.Asn1189Asp) c.3613A>G (p.Asn1205Asp) c.3673A>G (p.Asn1225Asp) c.3223A>G (p.Asn1075Asp) c.1525A>G (p.Asn509Asp) c.1342A>G (p.Asn448Asp) c.3574A>G (p.Asn1192Asp) c.3526A>G (p.Asn1176Asp) c.3295A>G (p.Asn1099Asp) c.3196A>G (p.Asn1066Asp) c.2377A>G (p.Asn793Asp) n.3928A>G | |
13 | g.51937670T>G | CA388022623 | ATP7B | c.*1359A>C (n.*1359A>C) c.*2453A>C (n.*2453A>C) c.3088A>C (p.Asn1030His) c.3709A>C (p.Asn1237His) c.3376A>C (p.Asn1126His) c.3457A>C (p.Asn1153His) n.950A>C c.3475A>C (p.Asn1159His) n.3848A>C n.575A>C c.2644A>C (p.Asn882His) c.2419A>C (p.Asn807His) c.3514A>C (p.Asn1172His) c.1487A>C c.*810A>C (n.*810A>C) n.4453A>C n.3054A>C c.3565A>C (p.Asn1189His) c.3613A>C (p.Asn1205His) c.3673A>C (p.Asn1225His) c.3223A>C (p.Asn1075His) c.1525A>C (p.Asn509His) c.1342A>C (p.Asn448His) c.3574A>C (p.Asn1192His) c.3526A>C (p.Asn1176His) c.3295A>C (p.Asn1099His) c.3196A>C (p.Asn1066His) c.2377A>C (p.Asn793His) n.3928A>C |