ClinVar Miner

List of variants studied for Wilson disease by All of Us Research Program, National Institutes of Health

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1091
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246 0.04852
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247 0.04023
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888 0.00430
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217 0.00076
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461 0.00066
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846 0.00041
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=) rs80145681 0.00037
NM_000053.4(ATP7B):c.3465G>T (p.Arg1155Ser) rs201985951 0.00036
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) rs146623472 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179 0.00022
NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val) rs553861183 0.00021
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742 0.00019
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239 0.00019
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389 0.00017
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860 0.00016
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836 0.00016
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00015
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 0.00014
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664 0.00014
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062 0.00014
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met) rs376112375 0.00014
NM_000053.4(ATP7B):c.3303A>C (p.Gly1101=) rs1475867908 0.00014
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993 0.00013
NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=) rs375820067 0.00013
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914 0.00013
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr) rs370203816 0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407 0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105 0.00010
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr) rs745866259 0.00010
NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val) rs371458882 0.00010
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292 0.00009
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090 0.00009
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=) rs373102009 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly) rs199924281 0.00009
NM_000053.4(ATP7B):c.3747G>A (p.Val1249=) rs572110753 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839 0.00009
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr) rs531199827 0.00009
NM_000053.4(ATP7B):c.2323G>T (p.Ala775Ser) rs535217574 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000053.4(ATP7B):c.2805G>A (p.Thr935=) rs141872590 0.00008
NM_000053.4(ATP7B):c.2583C>T (p.Ala861=) rs565717791 0.00007
NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val) rs367855110 0.00007
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) rs748003525 0.00007
NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys) rs774102085 0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.2191G>A (p.Val731Met) rs762746959 0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00006
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515 0.00006
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801 0.00006
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020 0.00006
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys) rs372435824 0.00006
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp) rs373762572 0.00006
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val) rs200866801 0.00006
NM_000053.4(ATP7B):c.774C>G (p.Thr258=) rs1201589034 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000053.4(ATP7B):c.2196C>T (p.Leu732=) rs201213995 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724 0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr) rs373698024 0.00005
NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp) rs543334965 0.00005
NM_000053.4(ATP7B):c.549C>T (p.Ala183=) rs772619981 0.00005
NM_000053.4(ATP7B):c.133G>A (p.Glu45Lys) rs777504965 0.00004
NM_000053.4(ATP7B):c.1605G>A (p.Glu535=) rs762567255 0.00004
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter) rs766906034 0.00004
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) rs376565432 0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser) rs760713333 0.00004
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421 0.00004
NM_000053.4(ATP7B):c.2576-5del rs754802731 0.00004
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=) rs1052485948 0.00004
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp) rs182659444 0.00004
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val) rs770428835 0.00004
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106 0.00004
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met) rs370713752 0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val) rs769949264 0.00004
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=) rs767721448 0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile) rs199634511 0.00004
NM_000053.4(ATP7B):c.111T>A (p.Phe37Leu) rs748698125 0.00003
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr) rs578173224 0.00003
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=) rs551051945 0.00003
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) rs138962570 0.00003
NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met) rs757716093 0.00003
NM_000053.4(ATP7B):c.2046G>C (p.Met682Ile) rs370398602 0.00003
NM_000053.4(ATP7B):c.2127C>T (p.Leu709=) rs780843377 0.00003
NM_000053.4(ATP7B):c.2298G>A (p.Thr766=) rs759444110 0.00003
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile) rs541408630 0.00003
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000053.4(ATP7B):c.2826C>T (p.Ile942=) rs758712064 0.00003
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) rs200656411 0.00003
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000053.4(ATP7B):c.314C>T (p.Ser105Leu) rs753236073 0.00003
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=) rs370527611 0.00003
NM_000053.4(ATP7B):c.3417A>C (p.Ala1139=) rs769949202 0.00003
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820 0.00003
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr) rs777879359 0.00003
NM_000053.4(ATP7B):c.3557-7G>A rs368128448 0.00003
NM_000053.4(ATP7B):c.3576C>T (p.Ile1192=) rs774584291 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=) rs763228636 0.00003
NM_000053.4(ATP7B):c.3783A>G (p.Lys1261=) rs774940838 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520 0.00003
NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=) rs772616533 0.00003
NM_000053.4(ATP7B):c.3894C>T (p.Val1298=) rs755044286 0.00003
NM_000053.4(ATP7B):c.3956G>A (p.Arg1319Gln) rs529307157 0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000053.4(ATP7B):c.946G>A (p.Glu316Lys) rs768818151 0.00003
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197 0.00003
NM_000053.4(ATP7B):c.1098C>T (p.Ala366=) rs1430922191 0.00002
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466 0.00002
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) rs772843652 0.00002
NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala) rs532864884 0.00002
NM_000053.4(ATP7B):c.1436C>A (p.Pro479Gln) rs983827093 0.00002
NM_000053.4(ATP7B):c.1460C>T (p.Pro487Leu) rs767312670 0.00002
NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=) rs142187604 0.00002
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=) rs756958229 0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.2199C>T (p.Ile733=) rs575138257 0.00002
NM_000053.4(ATP7B):c.2219C>T (p.Ala740Val) rs1406386204 0.00002
NM_000053.4(ATP7B):c.227T>C (p.Ile76Thr) rs747911411 0.00002
NM_000053.4(ATP7B):c.2328G>A (p.Leu776=) rs756580388 0.00002
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=) rs757244072 0.00002
NM_000053.4(ATP7B):c.2979G>A (p.Thr993=) rs200656411 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 0.00002
NM_000053.4(ATP7B):c.3130C>T (p.Leu1044=) rs1322680211 0.00002
NM_000053.4(ATP7B):c.3471C>T (p.Asn1157=) rs764481833 0.00002
NM_000053.4(ATP7B):c.3501C>T (p.Asp1167=) rs763963568 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334 0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639 0.00002
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739 0.00002
NM_000053.4(ATP7B):c.3845T>C (p.Val1282Ala) rs754148852 0.00002
NM_000053.4(ATP7B):c.3852T>C (p.Ile1284=) rs757139219 0.00002
NM_000053.4(ATP7B):c.389C>G (p.Ala130Gly) rs753045361 0.00002
NM_000053.4(ATP7B):c.396C>T (p.Ser132=) rs377081763 0.00002
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246 0.00002
NM_000053.4(ATP7B):c.4045G>C (p.Val1349Leu) rs374924611 0.00002
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624 0.00002
NM_000053.4(ATP7B):c.443G>A (p.Arg148Gln) rs571199682 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000053.4(ATP7B):c.632A>G (p.Lys211Arg) rs1314321927 0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) rs749626601 0.00002
NM_000053.4(ATP7B):c.866A>C (p.Gln289Pro) rs751053970 0.00002
NM_000053.4(ATP7B):c.1082C>T (p.Thr361Ile) rs1243293542 0.00001
NM_000053.4(ATP7B):c.1127C>T (p.Ser376Phe) rs762995412 0.00001
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val) rs775754066 0.00001
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) rs770903362 0.00001
NM_000053.4(ATP7B):c.1173G>A (p.Ser391=) rs200431213 0.00001
NM_000053.4(ATP7B):c.1182G>C (p.Leu394Phe) rs201874048 0.00001
NM_000053.4(ATP7B):c.1185C>T (p.Ala395=) rs764551529 0.00001
NM_000053.4(ATP7B):c.1187A>G (p.Glu396Gly) rs752745159 0.00001
NM_000053.4(ATP7B):c.1285+2T>A rs759749626 0.00001
NM_000053.4(ATP7B):c.1318A>G (p.Ser440Gly) rs759000301 0.00001
NM_000053.4(ATP7B):c.1551C>G (p.Leu517=) rs866939606 0.00001
NM_000053.4(ATP7B):c.1567T>C (p.Leu523=) rs368662351 0.00001
NM_000053.4(ATP7B):c.157C>T (p.Pro53Ser) rs751956663 0.00001
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser) rs778475094 0.00001
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs) rs1566559605 0.00001
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672 0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.1857C>A (p.Ile619=) rs765501756 0.00001
NM_000053.4(ATP7B):c.1896C>A (p.Ala632=) rs752696791 0.00001
NM_000053.4(ATP7B):c.1944G>A (p.Lys648=) rs1302960255 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2009A>G (p.Tyr670Cys) rs767305042 0.00001
NM_000053.4(ATP7B):c.2020C>A (p.Pro674Thr) rs1214560420 0.00001
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys) rs2277447 0.00001
NM_000053.4(ATP7B):c.2067T>C (p.Ile689=) rs1274947728 0.00001
NM_000053.4(ATP7B):c.2095T>A (p.Phe699Ile) rs749972036 0.00001
NM_000053.4(ATP7B):c.20A>G (p.Gln7Arg) rs764340318 0.00001
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr) rs767218895 0.00001
NM_000053.4(ATP7B):c.2114T>G (p.Phe705Cys) rs756971846 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2160A>G (p.Lys720=) rs753016869 0.00001
NM_000053.4(ATP7B):c.2236G>A (p.Val746Ile) rs746531706 0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137 0.00001
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=) rs755387536 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2322T>C (p.Ile774=) rs755299474 0.00001
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) rs751798708 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.2412C>T (p.Thr804=) rs372306234 0.00001
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323 0.00001
NM_000053.4(ATP7B):c.2447+1G>A rs1958431105 0.00001
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) rs759213674 0.00001
NM_000053.4(ATP7B):c.2511A>G (p.Gly837=) rs568128361 0.00001
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr) rs1017756733 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 0.00001
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter) rs780292767 0.00001
NM_000053.4(ATP7B):c.2551A>G (p.Met851Val) rs758360345 0.00001
NM_000053.4(ATP7B):c.2568C>T (p.Leu856=) rs1459783348 0.00001
NM_000053.4(ATP7B):c.2575+1G>C rs766149114 0.00001
NM_000053.4(ATP7B):c.2576-7C>T rs373160461 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=) rs896503662 0.00001
NM_000053.4(ATP7B):c.2625G>A (p.Gly875=) rs1052834834 0.00001
NM_000053.4(ATP7B):c.2659G>A (p.Ala887Thr) rs768479687 0.00001
NM_000053.4(ATP7B):c.265A>G (p.Met89Val) rs372516400 0.00001
NM_000053.4(ATP7B):c.2667C>T (p.His889=) rs373539367 0.00001
NM_000053.4(ATP7B):c.2679C>T (p.Asp893=) rs755739707 0.00001
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=) rs146232015 0.00001
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp) rs923227127 0.00001
NM_000053.4(ATP7B):c.2756G>A (p.Arg919Gln) rs574579593 0.00001
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000053.4(ATP7B):c.2835C>T (p.Ile945=) rs761169879 0.00001
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser) rs767877891 0.00001
NM_000053.4(ATP7B):c.2862T>C (p.Phe954=) rs972405411 0.00001
NM_000053.4(ATP7B):c.2865+1G>A rs587783306 0.00001
NM_000053.4(ATP7B):c.2901del (p.Ile968fs) rs1064796054 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2922G>A (p.Thr974=) rs751802421 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.2985C>T (p.Val995=) rs758641148 0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884 0.00001
NM_000053.4(ATP7B):c.3042C>T (p.Pro1014=) rs1438628867 0.00001
NM_000053.4(ATP7B):c.3051G>A (p.Met1017Ile) rs755851188 0.00001
NM_000053.4(ATP7B):c.3060+5G>T rs1353373400 0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 0.00001
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=) rs761888880 0.00001
NM_000053.4(ATP7B):c.3118A>C (p.Met1040Leu) rs1957515922 0.00001
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410 0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val) rs1395504465 0.00001
NM_000053.4(ATP7B):c.3150A>G (p.Thr1050=) rs771897428 0.00001
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=) rs534622837 0.00001
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro) rs373601229 0.00001
NM_000053.4(ATP7B):c.3183G>T (p.Gly1061=) rs994398327 0.00001
NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser) rs1423701688 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000053.4(ATP7B):c.3243+1G>A rs748819198 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3291G>A (p.Val1097=) rs766632973 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter) rs774221179 0.00001
NM_000053.4(ATP7B):c.3413-8T>C rs1957312964 0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314 0.00001
NM_000053.4(ATP7B):c.3504T>A (p.Ala1168=) rs768438514 0.00001
NM_000053.4(ATP7B):c.3516C>T (p.His1172=) rs528866491 0.00001
NM_000053.4(ATP7B):c.3556+1G>A rs184388696 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val) rs745679410 0.00001
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=) rs61957448 0.00001
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser) rs745918596 0.00001
NM_000053.4(ATP7B):c.363C>T (p.Phe121=) rs370199412 0.00001
NM_000053.4(ATP7B):c.3700-7G>A rs756742483 0.00001
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe) rs193922108 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000053.4(ATP7B):c.3738G>A (p.Ser1246=) rs376369653 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000053.4(ATP7B):c.3787G>A (p.Ala1263Thr) rs781514805 0.00001
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp) rs755202606 0.00001
NM_000053.4(ATP7B):c.3858C>T (p.Thr1286=) rs558520674 0.00001
NM_000053.4(ATP7B):c.3864G>A (p.Thr1288=) rs764702485 0.00001
NM_000053.4(ATP7B):c.3874A>G (p.Ile1292Val) rs200718740 0.00001
NM_000053.4(ATP7B):c.3876C>T (p.Ile1292=) rs978231751 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3892G>A (p.Val1298Ile) rs753044473 0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) rs377144951 0.00001
NM_000053.4(ATP7B):c.3939T>C (p.Leu1313=) rs896916123 0.00001
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) rs548512104 0.00001
NM_000053.4(ATP7B):c.3964C>T (p.Arg1322Cys) rs534984209 0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter) rs1033235740 0.00001
NM_000053.4(ATP7B):c.4021+3A>G rs565970531 0.00001
NM_000053.4(ATP7B):c.4022-3C>T rs531487054 0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu) rs947156425 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile) rs759551693 0.00001
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys) rs776848753 0.00001
NM_000053.4(ATP7B):c.4102C>G (p.Leu1368Val) rs768467658 0.00001
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=) rs779979628 0.00001
NM_000053.4(ATP7B):c.4114C>G (p.Gln1372Glu) rs755584106 0.00001
NM_000053.4(ATP7B):c.4166A>G (p.His1389Arg) rs1170033995 0.00001
NM_000053.4(ATP7B):c.4188G>A (p.Thr1396=) rs755406059 0.00001
NM_000053.4(ATP7B):c.4295C>T (p.Ser1432Phe) rs375692175 0.00001
NM_000053.4(ATP7B):c.4296C>T (p.Ser1432=) rs776367340 0.00001
NM_000053.4(ATP7B):c.4305C>T (p.Ser1435=) rs771736533 0.00001
NM_000053.4(ATP7B):c.4308C>T (p.Asp1436=) rs778639218 0.00001
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln) rs201483366 0.00001
NM_000053.4(ATP7B):c.4326C>T (p.Ser1442=) rs1566428703 0.00001
NM_000053.4(ATP7B):c.4338C>T (p.Asp1446=) rs760661082 0.00001
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro) rs377492122 0.00001
NM_000053.4(ATP7B):c.4391A>C (p.Tyr1464Ser) rs770175421 0.00001
NM_000053.4(ATP7B):c.459C>T (p.Thr153=) rs1009053966 0.00001
NM_000053.4(ATP7B):c.471T>C (p.Cys157=) rs748497024 0.00001
NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln) rs150490315 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000053.4(ATP7B):c.52-1G>T rs1057517351 0.00001
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296 0.00001
NM_000053.4(ATP7B):c.609C>T (p.Asp203=) rs781140058 0.00001
NM_000053.4(ATP7B):c.618T>C (p.Phe206=) rs764353593 0.00001
NM_000053.4(ATP7B):c.671T>C (p.Ile224Thr) rs994646747 0.00001
NM_000053.4(ATP7B):c.695C>T (p.Pro232Leu) rs777932681 0.00001
NM_000053.4(ATP7B):c.745T>C (p.Leu249=) rs756002947 0.00001
NM_000053.4(ATP7B):c.747G>A (p.Leu249=) rs554554415 0.00001
NM_000053.4(ATP7B):c.80G>A (p.Arg27His) rs371345946 0.00001
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg) rs1349622044 0.00001
NM_000053.4(ATP7B):c.829G>C (p.Glu277Gln) rs777846245 0.00001
NM_000053.4(ATP7B):c.909T>G (p.Pro303=) rs1341159981 0.00001
NM_000053.4(ATP7B):c.911C>T (p.Ser304Phe) rs571080835 0.00001
NM_000053.4(ATP7B):c.941C>T (p.Ala314Val) rs768949522 0.00001
NM_000053.4(ATP7B):c.999G>T (p.Gly333=) rs371930715 0.00001
NM_000053.4(ATP7B):c.-2C>T
NM_000053.4(ATP7B):c.-7C>G
NM_000053.4(ATP7B):c.1001G>A (p.Ser334Asn)
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=) rs1951990469
NM_000053.4(ATP7B):c.1013A>G (p.His338Arg)
NM_000053.4(ATP7B):c.1021T>C (p.Ser341Pro)
NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro) rs2140077796
NM_000053.4(ATP7B):c.1035C>T (p.Ser345=)
NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)
NM_000053.4(ATP7B):c.1044C>G (p.Ser348=) rs1292320157
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs) rs1316032472
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=) rs1482077950
NM_000053.4(ATP7B):c.1099G>A (p.Gly367Ser)
NM_000053.4(ATP7B):c.10C>G (p.Gln4Glu)
NM_000053.4(ATP7B):c.1105A>C (p.Thr369Pro)
NM_000053.4(ATP7B):c.1109G>A (p.Cys370Tyr)
NM_000053.4(ATP7B):c.1121T>G (p.Val374Gly)
NM_000053.4(ATP7B):c.1138A>G (p.Met380Val)
NM_000053.4(ATP7B):c.1139T>C (p.Met380Thr)
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1149A>G (p.Gln383=)
NM_000053.4(ATP7B):c.1161del (p.Gln388fs)
NM_000053.4(ATP7B):c.1162C>G (p.Gln388Glu)
NM_000053.4(ATP7B):c.1164G>A (p.Gln388=) rs2140070526
NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu)
NM_000053.4(ATP7B):c.1171T>C (p.Ser391Pro)
NM_000053.4(ATP7B):c.1174G>T (p.Val392Leu)
NM_000053.4(ATP7B):c.1176G>T (p.Val392=) rs1951977983
NM_000053.4(ATP7B):c.1186G>A (p.Glu396Lys) rs763051801
NM_000053.4(ATP7B):c.1188A>C (p.Glu396Asp)
NM_000053.4(ATP7B):c.1188A>T (p.Glu396Asp)
NM_000053.4(ATP7B):c.1193C>G (p.Thr398Ser)
NM_000053.4(ATP7B):c.1195_1205del (p.Ala399fs)
NM_000053.4(ATP7B):c.1201G>A (p.Val401Ile)
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr) rs1801243
NM_000053.4(ATP7B):c.1231G>A (p.Glu411Lys) rs886050308
NM_000053.4(ATP7B):c.1249A>G (p.Ile417Val)
NM_000053.4(ATP7B):c.1253A>G (p.Glu418Gly)
NM_000053.4(ATP7B):c.1254A>C (p.Glu418Asp)
NM_000053.4(ATP7B):c.1259T>C (p.Met420Thr)
NM_000053.4(ATP7B):c.1270G>C (p.Ala424Pro)
NM_000053.4(ATP7B):c.1275A>G (p.Ser425=)
NM_000053.4(ATP7B):c.127G>A (p.Gly43Ser) rs1255787917
NM_000053.4(ATP7B):c.1285+5G>C rs370579582
NM_000053.4(ATP7B):c.1285+6T>A
NM_000053.4(ATP7B):c.1286-10T>A
NM_000053.4(ATP7B):c.1286-14A>G
NM_000053.4(ATP7B):c.1286-15G>A
NM_000053.4(ATP7B):c.1296T>A (p.Ser432=)
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.1301A>T (p.Asn434Ile)
NM_000053.4(ATP7B):c.1304C>G (p.Pro435Arg)
NM_000053.4(ATP7B):c.1304C>T (p.Pro435Leu)
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys) rs1209726590
NM_000053.4(ATP7B):c.1335G>A (p.Met445Ile)
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) rs1057517444
NM_000053.4(ATP7B):c.1345A>G (p.Thr449Ala)
NM_000053.4(ATP7B):c.1356A>G (p.Thr452=)
NM_000053.4(ATP7B):c.1357C>G (p.Pro453Ala)
NM_000053.4(ATP7B):c.1374A>G (p.Glu458=) rs1298098944
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000053.4(ATP7B):c.1381C>T (p.Pro461Ser)
NM_000053.4(ATP7B):c.1387A>G (p.Thr463Ala)
NM_000053.4(ATP7B):c.1391G>C (p.Gly464Ala)
NM_000053.4(ATP7B):c.1396C>A (p.Leu466Ile)
NM_000053.4(ATP7B):c.13G>C (p.Glu5Gln)
NM_000053.4(ATP7B):c.1400C>T (p.Pro467Leu)
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1411G>A (p.Ala471Thr)
NM_000053.4(ATP7B):c.1415C>A (p.Pro472Gln)
NM_000053.4(ATP7B):c.1420A>C (p.Ile474Leu)
NM_000053.4(ATP7B):c.142C>T (p.Leu48=) rs1593792416
NM_000053.4(ATP7B):c.1436del (p.Pro479fs)
NM_000053.4(ATP7B):c.1441T>C (p.Ser481Pro)
NM_000053.4(ATP7B):c.1441T>G (p.Ser481Ala)
NM_000053.4(ATP7B):c.1446C>G (p.Thr482=)
NM_000053.4(ATP7B):c.1450G>A (p.Ala484Thr)
NM_000053.4(ATP7B):c.1451C>T (p.Ala484Val)
NM_000053.4(ATP7B):c.1470C>T (p.Cys490=)
NM_000053.4(ATP7B):c.1472T>C (p.Phe491Ser)
NM_000053.4(ATP7B):c.1478A>G (p.Gln493Arg)
NM_000053.4(ATP7B):c.1486G>A (p.Gly496Ser)
NM_000053.4(ATP7B):c.148G>A (p.Gly50Ser)
NM_000053.4(ATP7B):c.1493C>A (p.Thr498Asn)
NM_000053.4(ATP7B):c.1502C>T (p.Ser501Phe)
NM_000053.4(ATP7B):c.1507G>A (p.Val503Met)
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs) rs772000260
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) rs1449610384
NM_000053.4(ATP7B):c.1541C>A (p.Ala514Asp)
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.1544-2A>G
NM_000053.4(ATP7B):c.1544-4C>T
NM_000053.4(ATP7B):c.154G>A (p.Gly52Ser)
NM_000053.4(ATP7B):c.1562T>C (p.Val521Ala)
NM_000053.4(ATP7B):c.1564G>A (p.Ala522Thr)
NM_000053.4(ATP7B):c.1574C>T (p.Ala525Val)
NM_000053.4(ATP7B):c.1582G>A (p.Ala528Thr)
NM_000053.4(ATP7B):c.1583C>G (p.Ala528Gly)
NM_000053.4(ATP7B):c.1587G>A (p.Glu529=)
NM_000053.4(ATP7B):c.1589T>C (p.Ile530Thr)
NM_000053.4(ATP7B):c.1602A>G (p.Pro534=) rs2139893951
NM_000053.4(ATP7B):c.1606G>T (p.Val536Phe)
NM_000053.4(ATP7B):c.1617C>G (p.Pro539=)
NM_000053.4(ATP7B):c.1636A>G (p.Ile546Val)
NM_000053.4(ATP7B):c.1646T>C (p.Leu549Pro)
NM_000053.4(ATP7B):c.164C>T (p.Ser55Phe)
NM_000053.4(ATP7B):c.1657G>A (p.Ala553Thr)
NM_000053.4(ATP7B):c.1665C>A (p.Val555=)
NM_000053.4(ATP7B):c.1666A>G (p.Met556Val) rs200212457
NM_000053.4(ATP7B):c.1667T>C (p.Met556Thr)
NM_000053.4(ATP7B):c.1675T>C (p.Tyr559His)
NM_000053.4(ATP7B):c.1677C>A (p.Tyr559Ter) rs142187604
NM_000053.4(ATP7B):c.1678G>A (p.Ala560Thr)
NM_000053.4(ATP7B):c.1678G>T (p.Ala560Ser)
NM_000053.4(ATP7B):c.1705A>T (p.Thr569Ser)
NM_000053.4(ATP7B):c.1707+1G>A rs377001615
NM_000053.4(ATP7B):c.1707+3A>G
NM_000053.4(ATP7B):c.1708-3C>G rs1593752864
NM_000053.4(ATP7B):c.1710C>T (p.Ile570=) rs2139780456
NM_000053.4(ATP7B):c.1725C>T (p.Cys575=)
NM_000053.4(ATP7B):c.1727C>T (p.Ala576Val)
NM_000053.4(ATP7B):c.1741A>T (p.Asn581Tyr) rs756435919
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.1761G>A (p.Thr587=) rs764068870
NM_000053.4(ATP7B):c.1769A>T (p.Asn590Ile)
NM_000053.4(ATP7B):c.176C>G (p.Thr59Ser)
NM_000053.4(ATP7B):c.176C>T (p.Thr59Ile)
NM_000053.4(ATP7B):c.1799C>A (p.Ala600Asp)
NM_000053.4(ATP7B):c.1812C>T (p.Ala604=)
NM_000053.4(ATP7B):c.1813C>T (p.Leu605Phe)
NM_000053.4(ATP7B):c.1823T>C (p.Phe608Ser)
NM_000053.4(ATP7B):c.1828C>G (p.Pro610Ala)
NM_000053.4(ATP7B):c.1839C>G (p.Ile613Met)
NM_000053.4(ATP7B):c.183A>G (p.Thr61=)
NM_000053.4(ATP7B):c.1840G>A (p.Gly614Ser)
NM_000053.4(ATP7B):c.1850A>G (p.Asp617Gly) rs371038011
NM_000053.4(ATP7B):c.1852A>G (p.Ile618Val)
NM_000053.4(ATP7B):c.1869+1G>T
NM_000053.4(ATP7B):c.1870-14T>C
NM_000053.4(ATP7B):c.1870-3A>C
NM_000053.4(ATP7B):c.1872A>T (p.Glu624Asp)
NM_000053.4(ATP7B):c.1888T>A (p.Ser630Thr)
NM_000053.4(ATP7B):c.1900A>G (p.Arg634Gly)
NM_000053.4(ATP7B):c.1911C>A (p.Asn637Lys)
NM_000053.4(ATP7B):c.1913C>T (p.Ala638Val)
NM_000053.4(ATP7B):c.1919A>C (p.His640Pro)
NM_000053.4(ATP7B):c.1919A>G (p.His640Arg)
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1939A>G (p.Ile647Val)
NM_000053.4(ATP7B):c.1947-6T>C
NM_000053.4(ATP7B):c.195G>A (p.Leu65=)
NM_000053.4(ATP7B):c.1964T>A (p.Leu655Gln) rs2139612314
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1965G>T (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1969A>G (p.Ser657Gly)
NM_000053.4(ATP7B):c.1982G>A (p.Gly661Asp)
NM_000053.4(ATP7B):c.1983C>T (p.Gly661=)
NM_000053.4(ATP7B):c.1989T>C (p.Pro663=)
NM_000053.4(ATP7B):c.1990_1991del (p.Val664fs)
NM_000053.4(ATP7B):c.19C>T (p.Gln7Ter)
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2013G>T (p.Met671Ile)
NM_000053.4(ATP7B):c.2031G>T (p.Glu677Asp)
NM_000053.4(ATP7B):c.2035dup (p.His679fs)
NM_000053.4(ATP7B):c.2059A>G (p.Asn687Asp)
NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile)
NM_000053.4(ATP7B):c.2062A>T (p.Ile688Phe) rs1958637494
NM_000053.4(ATP7B):c.2064C>A (p.Ile688=)
NM_000053.4(ATP7B):c.2068C>A (p.Pro690Thr)
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2088T>C (p.Asn696=) rs2139604066
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
NM_000053.4(ATP7B):c.2112C>G (p.Thr704=)
NM_000053.4(ATP7B):c.2121+1G>T
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2122-14T>C
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2124C>T (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2125C>T (p.Leu709Phe)
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu) rs2139545313
NM_000053.4(ATP7B):c.2135G>T (p.Trp712Leu)
NM_000053.4(ATP7B):c.2136G>T (p.Trp712Cys)
NM_000053.4(ATP7B):c.213A>G (p.Ser71=) rs1952036108
NM_000053.4(ATP7B):c.2156A>G (p.Tyr719Cys)
NM_000053.4(ATP7B):c.2159A>G (p.Lys720Arg)
NM_000053.4(ATP7B):c.2160del (p.Lys720fs)
NM_000053.4(ATP7B):c.2162C>A (p.Ser721Tyr)
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2166G>A (p.Leu722=) rs587783302
NM_000053.4(ATP7B):c.216T>G (p.Cys72Trp)
NM_000053.4(ATP7B):c.2171A>G (p.His724Arg)
NM_000053.4(ATP7B):c.2173A>T (p.Arg725Trp)
NM_000053.4(ATP7B):c.217G>A (p.Val73Met)
NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp)
NM_000053.4(ATP7B):c.2190C>G (p.Asp730Glu)
NM_000053.4(ATP7B):c.2191G>T (p.Val731Leu)
NM_000053.4(ATP7B):c.2192T>G (p.Val731Gly)
NM_000053.4(ATP7B):c.2193G>A (p.Val731=)
NM_000053.4(ATP7B):c.2200G>A (p.Val734Ile)
NM_000053.4(ATP7B):c.2213G>A (p.Ser738Asn)
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter) rs1958499640
NM_000053.4(ATP7B):c.2223T>G (p.Tyr741Ter)
NM_000053.4(ATP7B):c.2233C>G (p.Leu745Val)
NM_000053.4(ATP7B):c.2235G>C (p.Leu745=)
NM_000053.4(ATP7B):c.2245G>T (p.Val749Leu)
NM_000053.4(ATP7B):c.2253T>C (p.Ala751=)
NM_000053.4(ATP7B):c.2258C>G (p.Ala753Gly)
NM_000053.4(ATP7B):c.2259T>A (p.Ala753=)
NM_000053.4(ATP7B):c.2264A>C (p.Lys755Thr)
NM_000053.4(ATP7B):c.226A>T (p.Ile76Phe)
NM_000053.4(ATP7B):c.2273G>C (p.Arg758Thr)
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2279_2280del (p.Pro760fs)
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2293G>C (p.Asp765His)
NM_000053.4(ATP7B):c.2295C>T (p.Asp765=)
NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr) rs2139531503
NM_000053.4(ATP7B):c.2302C>G (p.Pro768Ala)
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met) rs554893410
NM_000053.4(ATP7B):c.2325C>A (p.Ala775=) rs755218710
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.2349G>A (p.Leu783=) rs778848412
NM_000053.4(ATP7B):c.2349G>C (p.Leu783Phe) rs778848412
NM_000053.4(ATP7B):c.2353A>C (p.Lys785Gln)
NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg) rs1555291085
NM_000053.4(ATP7B):c.2355+5C>T
NM_000053.4(ATP7B):c.2356-12G>A
NM_000053.4(ATP7B):c.2356-9A>G rs1339073174
NM_000053.4(ATP7B):c.2359A>G (p.Lys787Glu)
NM_000053.4(ATP7B):c.235A>C (p.Arg79=)
NM_000053.4(ATP7B):c.2366C>G (p.Ser789Ter)
NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys)
NM_000053.4(ATP7B):c.2394C>T (p.Leu798=) rs758690020
NM_000053.4(ATP7B):c.2398G>A (p.Ala800Thr)
NM_000053.4(ATP7B):c.23T>A (p.Ile8Asn)
NM_000053.4(ATP7B):c.2413G>A (p.Val805Ile)
NM_000053.4(ATP7B):c.2415T>A (p.Val805=) rs768218512
NM_000053.4(ATP7B):c.2445C>T (p.Ile815=)
NM_000053.4(ATP7B):c.2448-13G>T
NM_000053.4(ATP7B):c.2451G>A (p.Glu817=)
NM_000053.4(ATP7B):c.2454G>A (p.Glu818=)
NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser) rs1555296815
NM_000053.4(ATP7B):c.2465T>C (p.Met822Thr)
NM_000053.4(ATP7B):c.2473G>A (p.Val825Met)
NM_000053.4(ATP7B):c.2480G>C (p.Arg827Pro) rs368589213
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val)
NM_000053.4(ATP7B):c.2491G>A (p.Val831Ile)
NM_000053.4(ATP7B):c.2492T>C (p.Val831Ala)
NM_000053.4(ATP7B):c.24C>T (p.Ile8=)
NM_000053.4(ATP7B):c.2501T>A (p.Val834Asp)
NM_000053.4(ATP7B):c.2517T>C (p.Phe839=) rs1192411256
NM_000053.4(ATP7B):c.2518C>T (p.Pro840Ser)
NM_000053.4(ATP7B):c.2520A>G (p.Pro840=)
NM_000053.4(ATP7B):c.2532A>G (p.Lys844=)
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2538G>A (p.Leu846=) rs2139224830
NM_000053.4(ATP7B):c.2543G>T (p.Gly848Val)
NM_000053.4(ATP7B):c.254G>A (p.Gly85Asp)
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
NM_000053.4(ATP7B):c.2552T>C (p.Met851Thr)
NM_000053.4(ATP7B):c.2553G>C (p.Met851Ile)
NM_000053.4(ATP7B):c.2559T>C (p.Asp853=) rs2139222717
NM_000053.4(ATP7B):c.2567T>G (p.Leu856Arg)
NM_000053.4(ATP7B):c.2567_2568insGATGGCTGATGAGTCCCT (p.Leu856_Ile857insMetAlaAspGluSerLeu)
NM_000053.4(ATP7B):c.2574A>G (p.Thr858=)
NM_000053.4(ATP7B):c.2576-15C>G
NM_000053.4(ATP7B):c.2588C>G (p.Pro863Arg)
NM_000053.4(ATP7B):c.2596A>G (p.Lys866Glu)
NM_000053.4(ATP7B):c.2604del (p.Gly869fs) rs1957904411
NM_000053.4(ATP7B):c.2617A>G (p.Ile873Val)
NM_000053.4(ATP7B):c.2622G>C (p.Ala874=)
NM_000053.4(ATP7B):c.2627C>G (p.Ser876Cys)
NM_000053.4(ATP7B):c.262A>G (p.Ser88Gly)
NM_000053.4(ATP7B):c.2637A>C (p.Ala879=)
NM_000053.4(ATP7B):c.2637A>G (p.Ala879=)
NM_000053.4(ATP7B):c.2638C>T (p.His880Tyr)
NM_000053.4(ATP7B):c.2641G>A (p.Gly881Ser) rs2139208285
NM_000053.4(ATP7B):c.265A>T (p.Met89Leu)
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) rs1455758826
NM_000053.4(ATP7B):c.2666A>G (p.His889Arg) rs1202275017
NM_000053.4(ATP7B):c.2674A>T (p.Asn892Tyr)
NM_000053.4(ATP7B):c.2675A>G (p.Asn892Ser)
NM_000053.4(ATP7B):c.2681C>G (p.Thr894Ser)
NM_000053.4(ATP7B):c.2691T>C (p.Ala897=)
NM_000053.4(ATP7B):c.2696T>C (p.Ile899Thr)
NM_000053.4(ATP7B):c.2698G>C (p.Val900Leu)
NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu) rs1593695760
NM_000053.4(ATP7B):c.2707G>A (p.Val903Met)
NM_000053.4(ATP7B):c.2718T>C (p.Ala906=)
NM_000053.4(ATP7B):c.2719C>A (p.Gln907Lys)
NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg)
NM_000053.4(ATP7B):c.2724G>A (p.Met908Ile) rs2139201407
NM_000053.4(ATP7B):c.2726C>T (p.Ser909Leu)
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
NM_000053.4(ATP7B):c.2731-4A>C rs2139193356
NM_000053.4(ATP7B):c.2740C>G (p.Gln914Glu)
NM_000053.4(ATP7B):c.2748G>A (p.Leu916=)
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2765_2773del (p.Gly922_Phe924del)
NM_000053.4(ATP7B):c.2766A>T (p.Gly922=)
NM_000053.4(ATP7B):c.2768A>G (p.Tyr923Cys)
NM_000053.4(ATP7B):c.2770T>C (p.Phe924Leu)
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del) rs1228359983
NM_000053.4(ATP7B):c.2787C>T (p.Ile929=) rs773527867
NM_000053.4(ATP7B):c.2789T>C (p.Ile930Thr)
NM_000053.4(ATP7B):c.278T>G (p.Leu93Arg)
NM_000053.4(ATP7B):c.2790C>G (p.Ile930Met)
NM_000053.4(ATP7B):c.2792T>C (p.Met931Thr) rs762875224
NM_000053.4(ATP7B):c.2796A>G (p.Ser932=) rs1957875863
NM_000053.4(ATP7B):c.2808G>T (p.Leu936Phe)
NM_000053.4(ATP7B):c.280G>A (p.Glu94Lys)
NM_000053.4(ATP7B):c.2811G>A (p.Val937=)
NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2820dup (p.Val941fs)
NM_000053.4(ATP7B):c.2827G>C (p.Gly943Arg)
NM_000053.4(ATP7B):c.2833A>G (p.Ile945Val)
NM_000053.4(ATP7B):c.2846T>G (p.Val949Gly)
NM_000053.4(ATP7B):c.2865+6_2865+12del
NM_000053.4(ATP7B):c.2866-11C>T
NM_000053.4(ATP7B):c.2866-4T>A rs765102482
NM_000053.4(ATP7B):c.2869C>T (p.Pro957Ser)
NM_000053.4(ATP7B):c.2873A>G (p.Asn958Ser)
NM_000053.4(ATP7B):c.2875A>G (p.Lys959Glu)
NM_000053.4(ATP7B):c.2897T>G (p.Val966Gly)
NM_000053.4(ATP7B):c.2899A>G (p.Ile967Val)
NM_000053.4(ATP7B):c.2905C>A (p.Arg969=) rs774028495
NM_000053.4(ATP7B):c.2907G>A (p.Arg969=)
NM_000053.4(ATP7B):c.2907G>C (p.Arg969=)
NM_000053.4(ATP7B):c.2912C>T (p.Ala971Val)
NM_000053.4(ATP7B):c.2919G>A (p.Gln973=) rs537498754
NM_000053.4(ATP7B):c.291dup (p.Ala98fs)
NM_000053.4(ATP7B):c.2934G>T (p.Val978=) rs1458543232
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2958C>T (p.Ser986=) rs2139056946
NM_000053.4(ATP7B):c.2964G>A (p.Gly988=)
NM_000053.4(ATP7B):c.2968G>T (p.Ala990Ser)
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2989G>A (p.Val997Met) rs1566485134
NM_000053.4(ATP7B):c.2993G>T (p.Gly998Val)
NM_000053.4(ATP7B):c.2995A>T (p.Thr999Ser)
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3008C>G (p.Ala1003Gly)
NM_000053.4(ATP7B):c.3011A>G (p.Gln1004Arg)
NM_000053.4(ATP7B):c.3016G>A (p.Gly1006Ser)
NM_000053.4(ATP7B):c.3027C>A (p.Ile1009=)
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr) rs747584649
NM_000053.4(ATP7B):c.3033A>T (p.Gly1011=)
NM_000053.4(ATP7B):c.3035G>T (p.Gly1012Val)
NM_000053.4(ATP7B):c.3038A>G (p.Lys1013Arg)
NM_000053.4(ATP7B):c.3039G>A (p.Lys1013=) rs535112212
NM_000053.4(ATP7B):c.3050T>C (p.Met1017Thr)
NM_000053.4(ATP7B):c.3054G>T (p.Ala1018=)
NM_000053.4(ATP7B):c.3057C>T (p.His1019=) rs1352113797
NM_000053.4(ATP7B):c.3059A>G (p.Lys1020Arg) rs2139046115
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3061-4G>T
NM_000053.4(ATP7B):c.3070G>C (p.Val1024Leu)
NM_000053.4(ATP7B):c.3074T>C (p.Met1025Thr)
NM_000053.4(ATP7B):c.3076T>C (p.Phe1026Leu)
NM_000053.4(ATP7B):c.307G>A (p.Val103Met)
NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs) rs1331370011
NM_000053.4(ATP7B):c.3094A>G (p.Ile1032Val)
NM_000053.4(ATP7B):c.3109C>G (p.Pro1037Ala)
NM_000053.4(ATP7B):c.3110C>T (p.Pro1037Leu)
NM_000053.4(ATP7B):c.3122G>A (p.Arg1041Gln)
NM_000053.4(ATP7B):c.3122G>C (p.Arg1041Pro)
NM_000053.4(ATP7B):c.3122G>T (p.Arg1041Leu)
NM_000053.4(ATP7B):c.3129C>T (p.Leu1043=) rs770672596
NM_000053.4(ATP7B):c.3133C>G (p.Leu1045Val)
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018
NM_000053.4(ATP7B):c.313T>A (p.Ser105Thr)
NM_000053.4(ATP7B):c.3140dup (p.Asp1047fs)
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
NM_000053.4(ATP7B):c.3153G>A (p.Leu1051=) rs1198600591
NM_000053.4(ATP7B):c.315G>A (p.Ser105=)
NM_000053.4(ATP7B):c.316G>A (p.Val106Ile)
NM_000053.4(ATP7B):c.3178G>T (p.Val1060Leu) rs1957511285
NM_000053.4(ATP7B):c.3209C>T (p.Pro1070Leu)
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)
NM_000053.4(ATP7B):c.3222A>C (p.Ala1074=)
NM_000053.4(ATP7B):c.3225C>T (p.Val1075=)
NM_000053.4(ATP7B):c.3226A>G (p.Thr1076Ala)
NM_000053.4(ATP7B):c.3234del (p.Cys1079fs)
NM_000053.4(ATP7B):c.3243+2T>C rs1593671769
NM_000053.4(ATP7B):c.3243+5G>C
NM_000053.4(ATP7B):c.3244-9C>G
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3258G>A (p.Glu1086=)
NM_000053.4(ATP7B):c.3258G>C (p.Glu1086Asp)
NM_000053.4(ATP7B):c.3261C>G (p.Thr1087=) rs375820067
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3276G>A (p.Thr1092=)
NM_000053.4(ATP7B):c.3278A>C (p.Asp1093Ala)
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly) rs1022670769
NM_000053.4(ATP7B):c.3292C>T (p.Pro1098Ser)
NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp)
NM_000053.4(ATP7B):c.3308G>A (p.Gly1103Glu)
NM_000053.4(ATP7B):c.3313A>G (p.Lys1105Glu)
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.3325G>A (p.Val1109Met)
NM_000053.4(ATP7B):c.3327G>A (p.Val1109=) rs1957394302
NM_000053.4(ATP7B):c.3332G>T (p.Gly1111Val)
NM_000053.4(ATP7B):c.3335T>A (p.Ile1112Asn)
NM_000053.4(ATP7B):c.3335T>G (p.Ile1112Ser)
NM_000053.4(ATP7B):c.3336C>T (p.Ile1112=)
NM_000053.4(ATP7B):c.333G>A (p.Gln111=)
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3352C>T (p.Arg1118Cys)
NM_000053.4(ATP7B):c.3353G>A (p.Arg1118His)
NM_000053.4(ATP7B):c.3356C>G (p.Pro1119Arg)
NM_000053.4(ATP7B):c.3374G>T (p.Ser1125Ile)
NM_000053.4(ATP7B):c.3377_3378del (p.His1126fs)
NM_000053.4(ATP7B):c.3378C>T (p.His1126=) rs2138847458
NM_000053.4(ATP7B):c.3381G>A (p.Leu1127=) rs587783311
NM_000053.4(ATP7B):c.3391G>A (p.Gly1131Ser)
NM_000053.4(ATP7B):c.33A>G (p.Arg11=) rs753613009
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3412+4T>C
NM_000053.4(ATP7B):c.3413-11C>A
NM_000053.4(ATP7B):c.3413-12T>A
NM_000053.4(ATP7B):c.3413-13del
NM_000053.4(ATP7B):c.3413-14C>T
NM_000053.4(ATP7B):c.3413-1G>C
NM_000053.4(ATP7B):c.3413A>T (p.Asp1138Val)
NM_000053.4(ATP7B):c.3426G>T (p.Gln1142His)
NM_000053.4(ATP7B):c.3427A>T (p.Thr1143Ser)
NM_000053.4(ATP7B):c.3430T>G (p.Phe1144Val)
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3457T>G (p.Trp1153Gly)
NM_000053.4(ATP7B):c.3466C>T (p.Arg1156Cys)
NM_000053.4(ATP7B):c.3472G>A (p.Gly1158Ser)
NM_000053.4(ATP7B):c.3472G>C (p.Gly1158Arg)
NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs) rs1566461818
NM_000053.4(ATP7B):c.3477A>T (p.Leu1159Phe)
NM_000053.4(ATP7B):c.3479C>G (p.Thr1160Ser)
NM_000053.4(ATP7B):c.3481A>G (p.Ile1161Val)
NM_000053.4(ATP7B):c.3484T>C (p.Ser1162Pro) rs2138782354
NM_000053.4(ATP7B):c.3485C>T (p.Ser1162Phe)
NM_000053.4(ATP7B):c.3490G>A (p.Asp1164Asn)
NM_000053.4(ATP7B):c.3493G>A (p.Val1165Ile)
NM_000053.4(ATP7B):c.3500A>G (p.Asp1167Gly)
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.4(ATP7B):c.3504T>C (p.Ala1168=)
NM_000053.4(ATP7B):c.3507G>A (p.Met1169Ile)
NM_000053.4(ATP7B):c.3521T>A (p.Met1174Lys)
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334
NM_000053.4(ATP7B):c.3533C>T (p.Thr1178Ile)
NM_000053.4(ATP7B):c.3544G>C (p.Val1182Leu)
NM_000053.4(ATP7B):c.3547_3548del (p.Ala1183fs)
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
NM_000053.4(ATP7B):c.3556+5C>T
NM_000053.4(ATP7B):c.3557G>C (p.Gly1186Ala)
NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)
NM_000053.4(ATP7B):c.3564C>T (p.Leu1188=) rs547413549
NM_000053.4(ATP7B):c.3569G>C (p.Gly1190Ala)
NM_000053.4(ATP7B):c.3569G>T (p.Gly1190Val)
NM_000053.4(ATP7B):c.3577G>A (p.Ala1193Thr)
NM_000053.4(ATP7B):c.3594C>A (p.Val1198=)
NM_000053.4(ATP7B):c.3605C>T (p.Ala1202Val)
NM_000053.4(ATP7B):c.360C>T (p.Gly120=) rs1952028232
NM_000053.4(ATP7B):c.3612G>A (p.Leu1204=)
NM_000053.4(ATP7B):c.3613G>A (p.Ala1205Thr)
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=) rs755324767
NM_000053.4(ATP7B):c.3619C>T (p.His1207Tyr) rs766820841
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3632G>A (p.Ser1211Asn) rs1157344488
NM_000053.4(ATP7B):c.3639T>G (p.Gly1213=)
NM_000053.4(ATP7B):c.3642G>A (p.Val1214=) rs1408214363
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3661G>C (p.Gly1221Arg)
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) rs1486594906
NM_000053.4(ATP7B):c.3666C>G (p.Asp1222Glu)
NM_000053.4(ATP7B):c.3668_3674del (p.Asn1223fs) rs755012990
NM_000053.4(ATP7B):c.3670C>G (p.Arg1224Gly)
NM_000053.4(ATP7B):c.3670C>T (p.Arg1224Trp)
NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)
NM_000053.4(ATP7B):c.3681C>T (p.Ala1227=) rs1292714486
NM_000053.4(ATP7B):c.3692_3693insT (p.Thr1232fs)
NM_000053.4(ATP7B):c.3693_3694insTGGT (p.Thr1232fs)
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer) rs1957151127
NM_000053.4(ATP7B):c.3696C>A (p.Thr1232=)
NM_000053.4(ATP7B):c.3696_3697insTTAA (p.Gln1233fs)
NM_000053.4(ATP7B):c.3698_3699insTTAAA (p.Gln1233delinsHisTer)
NM_000053.4(ATP7B):c.3699+2T>C
NM_000053.4(ATP7B):c.3700-3T>C
NM_000053.4(ATP7B):c.3712A>G (p.Lys1238Glu)
NM_000053.4(ATP7B):c.3720T>C (p.Phe1240=)
NM_000053.4(ATP7B):c.3726G>A (p.Glu1242=)
NM_000053.4(ATP7B):c.3728T>C (p.Val1243Ala)
NM_000053.4(ATP7B):c.3737C>T (p.Ser1246Leu)
NM_000053.4(ATP7B):c.3738G>C (p.Ser1246=) rs376369653
NM_000053.4(ATP7B):c.373A>G (p.Ile125Val)
NM_000053.4(ATP7B):c.3748G>T (p.Ala1250Ser)
NM_000053.4(ATP7B):c.3752A>T (p.Lys1251Met)
NM_000053.4(ATP7B):c.3775G>A (p.Gly1259Arg)
NM_000053.4(ATP7B):c.3776G>A (p.Gly1259Glu)
NM_000053.4(ATP7B):c.3795G>A (p.Val1265=)
NM_000053.4(ATP7B):c.3815C>G (p.Ser1272Cys)
NM_000053.4(ATP7B):c.3816C>T (p.Ser1272=) rs2138579304
NM_000053.4(ATP7B):c.3817C>T (p.Pro1273Ser)
NM_000053.4(ATP7B):c.3819G>A (p.Pro1273=)
NM_000053.4(ATP7B):c.3828C>G (p.Ala1276=)
NM_000053.4(ATP7B):c.3833C>G (p.Ala1278Gly)
NM_000053.4(ATP7B):c.3835G>T (p.Asp1279Tyr)
NM_000053.4(ATP7B):c.3838A>G (p.Met1280Val)
NM_000053.4(ATP7B):c.3842_3847dup (p.Val1282_Ala1283insGlyVal)
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) rs1957043255
NM_000053.4(ATP7B):c.3844G>A (p.Val1282Met)
NM_000053.4(ATP7B):c.3847G>A (p.Ala1283Thr)
NM_000053.4(ATP7B):c.3857C>T (p.Thr1286Ile)
NM_000053.4(ATP7B):c.3879G>C (p.Glu1293Asp)
NM_000053.4(ATP7B):c.3882A>C (p.Ala1294=)
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) rs1593645393
NM_000053.4(ATP7B):c.3899T>A (p.Ile1300Asn)
NM_000053.4(ATP7B):c.3901A>G (p.Arg1301Gly)
NM_000053.4(ATP7B):c.3905A>G (p.Asn1302Ser)
NM_000053.4(ATP7B):c.3909T>C (p.Asp1303=)
NM_000053.4(ATP7B):c.3915G>C (p.Leu1305=)
NM_000053.4(ATP7B):c.391G>A (p.Ala131Thr)
NM_000053.4(ATP7B):c.3920T>C (p.Val1307Ala)
NM_000053.4(ATP7B):c.3925G>C (p.Ala1309Pro)
NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly) rs1210164486
NM_000053.4(ATP7B):c.3929G>A (p.Ser1310Asn)
NM_000053.4(ATP7B):c.3934C>G (p.His1312Asp)
NM_000053.4(ATP7B):c.3936C>G (p.His1312Gln)
NM_000053.4(ATP7B):c.3941C>T (p.Ser1314Phe)
NM_000053.4(ATP7B):c.3944A>G (p.Lys1315Arg)
NM_000053.4(ATP7B):c.3954C>T (p.Val1318=)
NM_000053.4(ATP7B):c.3955C>G (p.Arg1319Gly)
NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly) rs2138561490
NM_000053.4(ATP7B):c.3959G>A (p.Arg1320Lys)
NM_000053.4(ATP7B):c.3961A>T (p.Ile1321Leu)
NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His) rs753330854
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) rs760285767
NM_000053.4(ATP7B):c.3977T>G (p.Val1326Gly)
NM_000053.4(ATP7B):c.3984A>G (p.Ala1328=) rs2138558760
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.4004G>T (p.Gly1335Val)
NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr)
NM_000053.4(ATP7B):c.4012A>G (p.Ile1338Val)
NM_000053.4(ATP7B):c.4013T>C (p.Ile1338Thr)
NM_000053.4(ATP7B):c.4016C>T (p.Ala1339Val)
NM_000053.4(ATP7B):c.4021+5G>C
NM_000053.4(ATP7B):c.4022-11T>C
NM_000053.4(ATP7B):c.4022-2A>C rs1555282816
NM_000053.4(ATP7B):c.4025T>A (p.Val1342Asp)
NM_000053.4(ATP7B):c.4036A>T (p.Ile1346Phe)
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4055C>T (p.Pro1352Leu)
NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg) rs1160679283
NM_000053.4(ATP7B):c.4058G>C (p.Trp1353Ser)
NM_000053.4(ATP7B):c.4062G>T (p.Met1354Ile)
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.4071G>A (p.Ala1357=)
NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala)
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.4098G>A (p.Val1366=)
NM_000053.4(ATP7B):c.4099G>T (p.Val1367Leu)
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.410C>T (p.Ser137Phe)
NM_000053.4(ATP7B):c.4111C>T (p.Leu1371=) rs953317531
NM_000053.4(ATP7B):c.4116G>C (p.Gln1372His)
NM_000053.4(ATP7B):c.4120A>C (p.Lys1374Gln)
NM_000053.4(ATP7B):c.4120A>G (p.Lys1374Glu)
NM_000053.4(ATP7B):c.4124+4A>G rs2138450931
NM_000053.4(ATP7B):c.4125-14T>A
NM_000053.4(ATP7B):c.4125-15G>A
NM_000053.4(ATP7B):c.4125-9G>A rs2138417975
NM_000053.4(ATP7B):c.4139A>G (p.Asp1380Gly)
NM_000053.4(ATP7B):c.4144G>A (p.Glu1382Lys)
NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter) rs2138414735
NM_000053.4(ATP7B):c.4158A>G (p.Ala1386=)
NM_000053.4(ATP7B):c.4164G>A (p.Ala1388=) rs756826065
NM_000053.4(ATP7B):c.4164G>T (p.Ala1388=)
NM_000053.4(ATP7B):c.4174A>G (p.Met1392Val)
NM_000053.4(ATP7B):c.4181C>G (p.Pro1394Arg)
NM_000053.4(ATP7B):c.4185G>A (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met)
NM_000053.4(ATP7B):c.4193C>T (p.Ser1398Phe)
NM_000053.4(ATP7B):c.4198G>C (p.Val1400Leu)
NM_000053.4(ATP7B):c.4205T>G (p.Val1402Gly)
NM_000053.4(ATP7B):c.4207C>T (p.His1403Tyr)
NM_000053.4(ATP7B):c.4208A>G (p.His1403Arg)
NM_000053.4(ATP7B):c.4209C>A (p.His1403Gln)
NM_000053.4(ATP7B):c.4217T>C (p.Met1406Thr)
NM_000053.4(ATP7B):c.4219G>C (p.Asp1407His)
NM_000053.4(ATP7B):c.4222G>A (p.Asp1408Asn)
NM_000053.4(ATP7B):c.4224C>T (p.Asp1408=)
NM_000053.4(ATP7B):c.4231C>G (p.Arg1411Gly)
NM_000053.4(ATP7B):c.4231C>T (p.Arg1411Trp)
NM_000053.4(ATP7B):c.4240C>T (p.Pro1414Ser)
NM_000053.4(ATP7B):c.4241C>A (p.Pro1414His)
NM_000053.4(ATP7B):c.4243A>G (p.Arg1415Gly)
NM_000053.4(ATP7B):c.4261C>G (p.Gln1421Glu)
NM_000053.4(ATP7B):c.4273G>A (p.Val1425Ile)
NM_000053.4(ATP7B):c.4277G>T (p.Ser1426Ile)
NM_000053.4(ATP7B):c.4278C>T (p.Ser1426=) rs1386613610
NM_000053.4(ATP7B):c.4280A>G (p.Gln1427Arg)
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=) rs747816425
NM_000053.4(ATP7B):c.4297C>T (p.Leu1433=) rs1956862933
NM_000053.4(ATP7B):c.4300A>C (p.Thr1434Pro)
NM_000053.4(ATP7B):c.4306G>A (p.Asp1436Asn)
NM_000053.4(ATP7B):c.4309A>T (p.Lys1437Ter)
NM_000053.4(ATP7B):c.4316C>G (p.Ser1439Cys)
NM_000053.4(ATP7B):c.4318C>A (p.Arg1440=)
NM_000053.4(ATP7B):c.4322A>G (p.His1441Arg)
NM_000053.4(ATP7B):c.4323C>G (p.His1441Gln)
NM_000053.4(ATP7B):c.4327G>A (p.Ala1443Thr)
NM_000053.4(ATP7B):c.4337A>G (p.Asp1446Gly)
NM_000053.4(ATP7B):c.4338C>A (p.Asp1446Glu)
NM_000053.4(ATP7B):c.4339G>A (p.Asp1447Asn)
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703
NM_000053.4(ATP7B):c.4360C>G (p.Leu1454Val)
NM_000053.4(ATP7B):c.4370del (p.Asn1457fs)
NM_000053.4(ATP7B):c.4371T>C (p.Asn1457=) rs1237211954
NM_000053.4(ATP7B):c.4378G>T (p.Asp1460Tyr)
NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg) rs202131204
NM_000053.4(ATP7B):c.4392C>T (p.Tyr1464=)
NM_000053.4(ATP7B):c.454A>G (p.Met152Val)
NM_000053.4(ATP7B):c.46C>G (p.Arg16Gly)
NM_000053.4(ATP7B):c.487G>A (p.Gly163Ser)
NM_000053.4(ATP7B):c.501A>T (p.Lys167Asn)
NM_000053.4(ATP7B):c.510A>C (p.Gly170=) rs2140099250
NM_000053.4(ATP7B):c.512T>C (p.Val171Ala)
NM_000053.4(ATP7B):c.52-13C>A
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.529T>C (p.Ser177Pro)
NM_000053.4(ATP7B):c.530C>G (p.Ser177Ter)
NM_000053.4(ATP7B):c.540C>T (p.Asn180=) rs537892210
NM_000053.4(ATP7B):c.546G>A (p.Glu182=)
NM_000053.4(ATP7B):c.547G>A (p.Ala183Thr)
NM_000053.4(ATP7B):c.550G>T (p.Val184Phe)
NM_000053.4(ATP7B):c.553A>G (p.Ile185Val)
NM_000053.4(ATP7B):c.558T>C (p.Thr186=)
NM_000053.4(ATP7B):c.58T>G (p.Ser20Ala)
NM_000053.4(ATP7B):c.598C>A (p.His200Asn)
NM_000053.4(ATP7B):c.603A>G (p.Val201=)
NM_000053.4(ATP7B):c.618T>A (p.Phe206Leu) rs764353593
NM_000053.4(ATP7B):c.62del (p.Lys21fs)
NM_000053.4(ATP7B):c.635G>A (p.Ser212Asn)
NM_000053.4(ATP7B):c.637A>G (p.Lys213Glu)
NM_000053.4(ATP7B):c.644C>A (p.Ala215Asp)
NM_000053.4(ATP7B):c.658G>A (p.Gly220Arg)
NM_000053.4(ATP7B):c.660A>G (p.Gly220=)
NM_000053.4(ATP7B):c.661C>T (p.Pro221Ser)
NM_000053.4(ATP7B):c.662C>T (p.Pro221Leu)
NM_000053.4(ATP7B):c.694C>T (p.Pro232Ser)
NM_000053.4(ATP7B):c.69T>G (p.Ser23=)
NM_000053.4(ATP7B):c.703C>G (p.Pro235Ala) rs2140092373
NM_000053.4(ATP7B):c.710C>A (p.Ser237Tyr)
NM_000053.4(ATP7B):c.722A>T (p.Gln241Leu)
NM_000053.4(ATP7B):c.748G>A (p.Gly250Arg)
NM_000053.4(ATP7B):c.750G>A (p.Gly250=)
NM_000053.4(ATP7B):c.758G>C (p.Gly253Ala)
NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del) rs1417723997
NM_000053.4(ATP7B):c.76A>G (p.Thr26Ala)
NM_000053.4(ATP7B):c.771C>G (p.Val257=)
NM_000053.4(ATP7B):c.775C>T (p.Leu259Phe)
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.77C>T (p.Thr26Ile)
NM_000053.4(ATP7B):c.783G>A (p.Leu261=)
NM_000053.4(ATP7B):c.784A>G (p.Arg262Gly)
NM_000053.4(ATP7B):c.788T>C (p.Ile263Thr)
NM_000053.4(ATP7B):c.800A>G (p.His267Arg)
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.819G>A (p.Leu273=)
NM_000053.4(ATP7B):c.832A>G (p.Asn278Asp)
NM_000053.4(ATP7B):c.835A>G (p.Ile279Val) rs1952002052
NM_000053.4(ATP7B):c.840C>T (p.Gly280=)
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
NM_000053.4(ATP7B):c.851G>A (p.Gly284Glu)
NM_000053.4(ATP7B):c.854T>G (p.Val285Gly) rs1411865806
NM_000053.4(ATP7B):c.874T>G (p.Leu292Val)
NM_000053.4(ATP7B):c.875T>C (p.Leu292Ser)
NM_000053.4(ATP7B):c.884A>G (p.Lys295Arg)
NM_000053.4(ATP7B):c.887C>T (p.Thr296Ile)
NM_000053.4(ATP7B):c.893A>C (p.Gln298Pro)
NM_000053.4(ATP7B):c.897A>G (p.Val299=)
NM_000053.4(ATP7B):c.899A>G (p.Lys300Arg)
NM_000053.4(ATP7B):c.901T>C (p.Tyr301His)
NM_000053.4(ATP7B):c.903T>C (p.Tyr301=)
NM_000053.4(ATP7B):c.917C>G (p.Thr306Ser)
NM_000053.4(ATP7B):c.958C>T (p.Pro320Ser)
NM_000053.4(ATP7B):c.96A>G (p.Ala32=)
NM_000053.4(ATP7B):c.997G>A (p.Gly333Arg)
NM_000053.4(ATP7B):c.998G>A (p.Gly333Glu)
NM_000053.4(ATP7B):c.99G>A (p.Met33Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.