ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance

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Gene type:
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Total variants: 855
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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.3903+6C>T rs2282057 0.53754
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.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000053.4(ATP7B):c.*148C>T rs111901413 0.00362
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
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.2355+13T>G rs139211339 0.00293
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.*16G>A rs193922100 0.00105
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204 0.00086
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
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.1543+13C>T rs200171850 0.00062
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.1687G>A (p.Asp563Asn) rs199875471 0.00041
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=) rs80145681 0.00037
NM_000053.4(ATP7B):c.2448-11G>A rs200450017 0.00034
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.1291T>C (p.Cys431Arg) rs145173864 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.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.1628C>G (p.Ala543Gly) rs777096464 0.00016
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836 0.00016
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
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.226A>G (p.Ile76Val) rs200642204 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.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529 0.00014
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704 0.00013
NM_000053.4(ATP7B):c.1544-12T>C rs201167060 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.347T>C (p.Ile116Thr) rs199773340 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.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407 0.00011
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.4163C>T (p.Ala1388Val) rs371458882 0.00010
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292 0.00009
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=) rs373102009 0.00009
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly) rs199924281 0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr) rs531199827 0.00009
NM_000053.4(ATP7B):c.610A>G (p.Met204Val) rs200605351 0.00009
NM_001005918.2(ATP7B):c.-116G>A rs965523214 0.00009
NM_000053.4(ATP7B):c.2323G>T (p.Ala775Ser) rs535217574 0.00008
NM_000053.3(ATP7B):c.-122G>A rs886050311 0.00007
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585 0.00007
NM_000053.4(ATP7B):c.1947-4C>T rs74904335 0.00007
NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val) rs367855110 0.00007
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00006
NM_000053.4(ATP7B):c.-74C>T rs193922101 0.00006
NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys) rs774102085 0.00006
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser) rs186300062 0.00006
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277 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.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.3671G>T (p.Arg1224Leu) rs532177115 0.00006
NM_000053.4(ATP7B):c.4022-19C>T rs369736734 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.496C>T (p.Arg166Trp) rs755476114 0.00006
NM_000053.4(ATP7B):c.589C>T (p.Leu197Phe) rs745909234 0.00006
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val) rs200866801 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 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.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.814G>A (p.Val272Ile) rs771501259 0.00005
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856 0.00004
NM_000053.4(ATP7B):c.1258A>G (p.Met420Val) rs1390574533 0.00004
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.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.2763T>C (p.Ser921=) rs1052485948 0.00004
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp) rs182659444 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.111T>A (p.Phe37Leu) rs748698125 0.00003
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr) rs578173224 0.00003
NM_000053.4(ATP7B):c.1543+14G>A rs770362811 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.1873A>G (p.Ile625Val) rs778963465 0.00003
NM_000053.4(ATP7B):c.2046G>C (p.Met682Ile) rs370398602 0.00003
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.2447+8A>G rs747586752 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.3106G>A (p.Val1036Ile) rs761147984 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.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820 0.00003
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val) rs770428835 0.00003
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr) rs777879359 0.00003
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg) rs786204547 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile) rs199634511 0.00003
NM_000053.4(ATP7B):c.665T>C (p.Ile222Thr) rs373476328 0.00003
NM_000053.4(ATP7B):c.946G>A (p.Glu316Lys) rs768818151 0.00003
NM_000053.4(ATP7B):c.*111G>A rs546262455 0.00002
NM_000053.4(ATP7B):c.*149G>A rs529606445 0.00002
NM_000053.4(ATP7B):c.*355G>A rs1047705237 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.1298C>T (p.Thr433Ile) rs763788226 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.1726G>A (p.Ala576Thr) rs747638528 0.00002
NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg) rs775080615 0.00002
NM_000053.4(ATP7B):c.1869+20A>G rs566255910 0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 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.2374C>T (p.Leu792=) rs757244072 0.00002
NM_000053.4(ATP7B):c.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334 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.389C>G (p.Ala130Gly) rs753045361 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.4175T>C (p.Met1392Thr) rs199821965 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.*34G>A rs763552108 0.00001
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu) rs201855906 0.00001
NM_000053.4(ATP7B):c.1082C>T (p.Thr361Ile) rs1243293542 0.00001
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=) rs759359836 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.113C>A (p.Ala38Asp) rs935963471 0.00001
NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser) rs766943890 0.00001
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) rs770903362 0.00001
NM_000053.4(ATP7B):c.1182G>C (p.Leu394Phe) rs201874048 0.00001
NM_000053.4(ATP7B):c.1187A>G (p.Glu396Gly) rs752745159 0.00001
NM_000053.4(ATP7B):c.1318A>G (p.Ser440Gly) rs759000301 0.00001
NM_000053.4(ATP7B):c.1324G>T (p.Gly442Trp) rs776135837 0.00001
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=) rs1371066375 0.00001
NM_000053.4(ATP7B):c.1407C>A (p.Asn469Lys) rs772709899 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.1830G>A (p.Pro610=) rs375689672 0.00001
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr) rs377670877 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901 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.2095T>A (p.Phe699Ile) rs749972036 0.00001
NM_000053.4(ATP7B):c.20A>G (p.Gln7Arg) rs764340318 0.00001
NM_000053.4(ATP7B):c.2114T>G (p.Phe705Cys) rs756971846 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys) rs756883878 0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 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.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val) rs778579276 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323 0.00001
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=) rs755237462 0.00001
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr) rs1017756733 0.00001
NM_000053.4(ATP7B):c.2551A>G (p.Met851Val) rs758360345 0.00001
NM_000053.4(ATP7B):c.2575+4A>G rs761060032 0.00001
NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu) rs775553302 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.2659G>A (p.Ala887Thr) rs768479687 0.00001
NM_000053.4(ATP7B):c.265A>G (p.Met89Val) rs372516400 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.2730+4A>G rs562091841 0.00001
NM_000053.4(ATP7B):c.2756G>A (p.Arg919Gln) rs574579593 0.00001
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn) rs1230241288 0.00001
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410 0.00001
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser) rs767877891 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2945C>T (p.Ala982Val) rs1487547257 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000053.4(ATP7B):c.3051G>A (p.Met1017Ile) rs755851188 0.00001
NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val) rs776490710 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.3151C>T (p.Leu1051=) rs534622837 0.00001
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro) rs373601229 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 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+4C>T rs779783859 0.00001
NM_000053.4(ATP7B):c.3452G>C (p.Arg1151Pro) rs377297166 0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314 0.00001
NM_000053.4(ATP7B):c.3550A>G (p.Ile1184Val) rs1057519121 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.3557-8C>T rs765668065 0.00001
NM_000053.4(ATP7B):c.3571A>G (p.Met1191Val) rs1566452960 0.00001
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val) rs745679410 0.00001
NM_000053.4(ATP7B):c.35A>T (p.Glu12Val) rs374944498 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.3695C>T (p.Thr1232Ile) rs1345433491 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.372C>A (p.Ser124Arg) rs1489384071 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 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.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.3874A>G (p.Ile1292Val) rs200718740 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.3964C>T (p.Arg1322Cys) rs534984209 0.00001
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741 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.4030A>C (p.Met1344Leu) rs947156425 0.00001
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp) rs1305262063 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.4114C>G (p.Gln1372Glu) rs755584106 0.00001
NM_000053.4(ATP7B):c.4166A>G (p.His1389Arg) rs1170033995 0.00001
NM_000053.4(ATP7B):c.4288C>A (p.Leu1430Met) rs899484304 0.00001
NM_000053.4(ATP7B):c.4295C>T (p.Ser1432Phe) rs375692175 0.00001
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln) rs201483366 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.44del (p.Ser15fs) rs1192728612 0.00001
NM_000053.4(ATP7B):c.470G>T (p.Cys157Phe) rs551275663 0.00001
NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln) rs150490315 0.00001
NM_000053.4(ATP7B):c.51+13C>T rs770273498 0.00001
NM_000053.4(ATP7B):c.548C>T (p.Ala183Val) rs760140568 0.00001
NM_000053.4(ATP7B):c.609C>T (p.Asp203=) rs781140058 0.00001
NM_000053.4(ATP7B):c.623C>T (p.Ala208Val) rs754738204 0.00001
NM_000053.4(ATP7B):c.671T>C (p.Ile224Thr) rs994646747 0.00001
NM_000053.4(ATP7B):c.769G>T (p.Val257Phe) rs373242731 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.911C>T (p.Ser304Phe) rs571080835 0.00001
NM_000053.4(ATP7B):c.925G>C (p.Val309Leu) rs551158302 0.00001
NM_000053.4(ATP7B):c.941C>T (p.Ala314Val) rs768949522 0.00001
NM_000053.4(ATP7B):c.950C>A (p.Ala317Glu) rs746932888 0.00001
NM_000053.4(ATP7B):c.968T>C (p.Phe323Ser) rs1186805034 0.00001
NM_000053.4(ATP7B):c.994G>A (p.Glu332Lys) rs761084829 0.00001
NM_000053.4(ATP7B):c.999G>T (p.Gly333=) rs371930715 0.00001
NC_000013.10:g.(?_52538988)_(52585473_?)dup
NM_000053.3(ATP7B):c.-127_-126GC[2][1] rs1322135702
NM_000053.3(ATP7B):c.-128_-127insGCCGT rs766338038
NM_000053.4(ATP7B):c.*111G>T rs546262455
NM_000053.4(ATP7B):c.*190C>T rs115420019
NM_000053.4(ATP7B):c.*221C>A rs886050305
NM_000053.4(ATP7B):c.-210A>T
NM_000053.4(ATP7B):c.-73G>T rs886050309
NM_000053.4(ATP7B):c.-74C>A rs193922101
NM_000053.4(ATP7B):c.-91C>T rs1593893115
NM_000053.4(ATP7B):c.-97C>T rs886050310
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=) rs1951990469
NM_000053.4(ATP7B):c.1013A>G (p.His338Arg)
NM_000053.4(ATP7B):c.1022C>G (p.Ser341Cys)
NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro) rs2140077796
NM_000053.4(ATP7B):c.1028C>G (p.Ser343Cys)
NM_000053.4(ATP7B):c.1030C>T (p.His344Tyr) rs2140077548
NM_000053.4(ATP7B):c.1031A>G (p.His344Arg)
NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)
NM_000053.4(ATP7B):c.1058A>G (p.Gln353Arg) rs532441558
NM_000053.4(ATP7B):c.1065G>C (p.Gln355His)
NM_000053.4(ATP7B):c.106A>T (p.Ser36Cys)
NM_000053.4(ATP7B):c.1076G>A (p.Ser359Asn)
NM_000053.4(ATP7B):c.107G>C (p.Ser36Thr)
NM_000053.4(ATP7B):c.1081A>T (p.Thr361Ser)
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=) rs1482077950
NM_000053.4(ATP7B):c.10C>G (p.Gln4Glu)
NM_000053.4(ATP7B):c.1100G>A (p.Gly367Asp)
NM_000053.4(ATP7B):c.1100G>C (p.Gly367Ala)
NM_000053.4(ATP7B):c.1104G>A (p.Met368Ile) rs1476381647
NM_000053.4(ATP7B):c.1105A>C (p.Thr369Pro)
NM_000053.4(ATP7B):c.1111G>A (p.Ala371Thr)
NM_000053.4(ATP7B):c.1115C>T (p.Ser372Phe) rs1951982961
NM_000053.4(ATP7B):c.1138A>C (p.Met380Leu)
NM_000053.4(ATP7B):c.113C>T (p.Ala38Val) rs935963471
NM_000053.4(ATP7B):c.1153G>C (p.Glu385Gln) rs772069735
NM_000053.4(ATP7B):c.1155A>C (p.Glu385Asp) rs1593787847
NM_000053.4(ATP7B):c.1170A>G (p.Ile390Met)
NM_000053.4(ATP7B):c.1171T>C (p.Ser391Pro)
NM_000053.4(ATP7B):c.1174G>T (p.Val392Leu)
NM_000053.4(ATP7B):c.1186G>A (p.Glu396Lys) rs763051801
NM_000053.4(ATP7B):c.1188A>C (p.Glu396Asp)
NM_000053.4(ATP7B):c.1191G>T (p.Gly397=) rs561017302
NM_000053.4(ATP7B):c.1192A>G (p.Thr398Ala)
NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro) rs781780227
NM_000053.4(ATP7B):c.1202T>C (p.Val401Ala)
NM_000053.4(ATP7B):c.1214C>T (p.Pro405Leu)
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.1233A>C (p.Glu411Asp) rs2140067189
NM_000053.4(ATP7B):c.1247C>T (p.Ala416Val) rs1951971023
NM_000053.4(ATP7B):c.127G>A (p.Gly43Ser) rs1255787917
NM_000053.4(ATP7B):c.1282T>G (p.Ser428Ala) rs1951967393
NM_000053.4(ATP7B):c.1285+3A>G
NM_000053.4(ATP7B):c.1285+4C>T
NM_000053.4(ATP7B):c.1285+5G>A
NM_000053.4(ATP7B):c.1285+5G>C rs370579582
NM_000053.4(ATP7B):c.1289G>T (p.Ser430Ile)
NM_000053.4(ATP7B):c.1291T>G (p.Cys431Gly) rs145173864
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.130T>A (p.Tyr44Asn) rs1566605396
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys) rs1209726590
NM_000053.4(ATP7B):c.1354A>T (p.Thr452Ser)
NM_000053.4(ATP7B):c.1381C>T (p.Pro461Ser)
NM_000053.4(ATP7B):c.13G>A (p.Glu5Lys)
NM_000053.4(ATP7B):c.13G>C (p.Glu5Gln)
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1402G>A (p.Ala468Thr) rs760282247
NM_000053.4(ATP7B):c.1427C>T (p.Ala476Val) rs1194712970
NM_000053.4(ATP7B):c.1441T>C (p.Ser481Pro)
NM_000053.4(ATP7B):c.1450G>A (p.Ala484Thr)
NM_000053.4(ATP7B):c.1460C>A (p.Pro487Gln)
NM_000053.4(ATP7B):c.1472T>G (p.Phe491Cys)
NM_000053.4(ATP7B):c.1495T>C (p.Cys499Arg) rs749968753
NM_000053.4(ATP7B):c.1496G>C (p.Cys499Ser)
NM_000053.4(ATP7B):c.1502C>T (p.Ser501Phe)
NM_000053.4(ATP7B):c.1518A>G (p.Ile506Met)
NM_000053.4(ATP7B):c.1520A>G (p.Glu507Gly)
NM_000053.4(ATP7B):c.1543+15C>G rs1365158305
NM_000053.4(ATP7B):c.1543+4A>G
NM_000053.4(ATP7B):c.1552T>C (p.Ser518Pro) rs2139897814
NM_000053.4(ATP7B):c.1568T>C (p.Leu523Ser)
NM_000053.4(ATP7B):c.1582G>A (p.Ala528Thr)
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys) rs375071383
NM_000053.4(ATP7B):c.1600C>T (p.Pro534Ser)
NM_000053.4(ATP7B):c.1603G>A (p.Glu535Lys)
NM_000053.4(ATP7B):c.160TCT[1] (p.Ser55del)
NM_000053.4(ATP7B):c.1614G>T (p.Gln538His)
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.161C>G (p.Ser54Cys)
NM_000053.4(ATP7B):c.1631A>G (p.Gln544Arg)
NM_000053.4(ATP7B):c.1648G>A (p.Gly550Ser) rs964566440
NM_000053.4(ATP7B):c.1652T>C (p.Phe551Ser) rs773296731
NM_000053.4(ATP7B):c.1654G>C (p.Glu552Gln)
NM_000053.4(ATP7B):c.1666A>C (p.Met556Leu)
NM_000053.4(ATP7B):c.1666A>G (p.Met556Val) rs200212457
NM_000053.4(ATP7B):c.1667T>C (p.Met556Thr)
NM_000053.4(ATP7B):c.1669G>A (p.Glu557Lys)
NM_000053.4(ATP7B):c.1670A>G (p.Glu557Gly)
NM_000053.4(ATP7B):c.1676A>G (p.Tyr559Cys) rs1266694873
NM_000053.4(ATP7B):c.169G>A (p.Val57Met)
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.1708-3C>G rs1593752864
NM_000053.4(ATP7B):c.1709T>C (p.Ile570Thr)
NM_000053.4(ATP7B):c.1727C>T (p.Ala576Val)
NM_000053.4(ATP7B):c.1741A>T (p.Asn581Tyr) rs756435919
NM_000053.4(ATP7B):c.176C>T (p.Thr59Ile)
NM_000053.4(ATP7B):c.1771G>A (p.Gly591Ser) rs1566559224
NM_000053.4(ATP7B):c.1781A>C (p.Tyr594Ser)
NM_000053.4(ATP7B):c.1781A>G (p.Tyr594Cys)
NM_000053.4(ATP7B):c.1823T>C (p.Phe608Ser)
NM_000053.4(ATP7B):c.1828C>T (p.Pro610Ser) rs753069338
NM_000053.4(ATP7B):c.1834A>G (p.Ile612Val) rs886050307
NM_000053.4(ATP7B):c.1839C>G (p.Ile613Met)
NM_000053.4(ATP7B):c.1840G>A (p.Gly614Ser)
NM_000053.4(ATP7B):c.1850A>G (p.Asp617Gly) rs371038011
NM_000053.4(ATP7B):c.1855A>G (p.Ile619Val)
NM_000053.4(ATP7B):c.1865T>C (p.Ile622Thr)
NM_000053.4(ATP7B):c.1869+18_1869+20del rs758773114
NM_000053.4(ATP7B):c.1869+4A>T rs2139767595
NM_000053.4(ATP7B):c.1869G>A (p.Glu623=) rs2139767805
NM_000053.4(ATP7B):c.1870-5A>G rs2139670020
NM_000053.4(ATP7B):c.1907C>A (p.Pro636His) rs1593739354
NM_000053.4(ATP7B):c.1912G>T (p.Ala638Ser)
NM_000053.4(ATP7B):c.1921T>G (p.Leu641Val)
NM_000053.4(ATP7B):c.1931A>G (p.Lys644Arg)
NM_000053.4(ATP7B):c.1933A>G (p.Met645Val)
NM_000053.4(ATP7B):c.1933A>T (p.Met645Leu) rs749412315
NM_000053.4(ATP7B):c.1946+3A>G
NM_000053.4(ATP7B):c.1946+5G>A rs2139666211
NM_000053.4(ATP7B):c.1946+5dup
NM_000053.4(ATP7B):c.1947-5T>C rs1958647927
NM_000053.4(ATP7B):c.1953G>C (p.Lys651Asn)
NM_000053.4(ATP7B):c.1957T>G (p.Ser653Ala)
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.1979T>A (p.Phe660Tyr)
NM_000053.4(ATP7B):c.199A>G (p.Met67Val)
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.2006T>C (p.Ile669Thr)
NM_000053.4(ATP7B):c.2012T>C (p.Met671Thr)
NM_000053.4(ATP7B):c.2039A>G (p.Gln680Arg)
NM_000053.4(ATP7B):c.203C>G (p.Thr68Ser)
NM_000053.4(ATP7B):c.2040G>C (p.Gln680His)
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val) rs1555291836
NM_000053.4(ATP7B):c.2053G>A (p.Asp685Asn)
NM_000053.4(ATP7B):c.2057ACA[1] (p.Asn687del) rs770107276
NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile)
NM_000053.4(ATP7B):c.2062A>T (p.Ile688Phe) rs1958637494
NM_000053.4(ATP7B):c.2068C>A (p.Pro690Thr)
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.4(ATP7B):c.206G>T (p.Cys69Phe)
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr) rs1212479289
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2092A>C (p.Ile698Leu)
NM_000053.4(ATP7B):c.2094CTT[1] (p.Phe700del) rs1555291787
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
NM_000053.4(ATP7B):c.2121+4T>C
NM_000053.4(ATP7B):c.2121+5A>G rs763275345
NM_000053.4(ATP7B):c.2121+6T>G rs1958633477
NM_000053.4(ATP7B):c.2122-3C>G rs1593726901
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2128_2133del (p.Gly710_Gly711del)
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2140T>C (p.Phe714Leu) rs1372799442
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His) rs1555291272
NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro) rs1555291265
NM_000053.4(ATP7B):c.2156A>G (p.Tyr719Cys)
NM_000053.4(ATP7B):c.215G>A (p.Cys72Tyr)
NM_000053.4(ATP7B):c.2175G>T (p.Arg725Ser) rs61733684
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys) rs1202766392
NM_000053.4(ATP7B):c.2194C>T (p.Leu732Phe) rs1958502647
NM_000053.4(ATP7B):c.2207C>T (p.Ala736Val)
NM_000053.4(ATP7B):c.2212A>C (p.Ser738Arg)
NM_000053.4(ATP7B):c.2215A>G (p.Ile739Val)
NM_000053.4(ATP7B):c.2222A>C (p.Tyr741Ser)
NM_000053.4(ATP7B):c.2224G>A (p.Val742Ile) rs2139538547
NM_000053.4(ATP7B):c.2231C>G (p.Ser744Cys)
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe) rs1958498953
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=) rs757991922
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.4(ATP7B):c.2255T>C (p.Val752Ala)
NM_000053.4(ATP7B):c.2261A>G (p.Glu754Gly)
NM_000053.4(ATP7B):c.2275A>T (p.Ser759Cys) rs2139534075
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2290T>C (p.Phe764Leu)
NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr) rs2139531503
NM_000053.4(ATP7B):c.22A>G (p.Ile8Val)
NM_000053.4(ATP7B):c.2306T>C (p.Met769Thr)
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met) rs554893410
NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val) rs1217463955
NM_000053.4(ATP7B):c.2327T>C (p.Leu776Pro)
NM_000053.4(ATP7B):c.2338C>G (p.Leu780Val) rs1593725352
NM_000053.4(ATP7B):c.2341G>A (p.Glu781Lys) rs1225673619
NM_000053.4(ATP7B):c.2349G>C (p.Leu783Phe) rs778848412
NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg) rs1555291085
NM_000053.4(ATP7B):c.2355+5C>T
NM_000053.4(ATP7B):c.2356-16del rs1257703465
NM_000053.4(ATP7B):c.2356-9A>G rs1339073174
NM_000053.4(ATP7B):c.2359A>C (p.Lys787Gln)
NM_000053.4(ATP7B):c.2364C>T (p.Thr788=)
NM_000053.4(ATP7B):c.2366C>T (p.Ser789Leu) rs1593722956
NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys)
NM_000053.4(ATP7B):c.2371G>T (p.Ala791Ser)
NM_000053.4(ATP7B):c.2374C>G (p.Leu792Val)
NM_000053.4(ATP7B):c.2375T>C (p.Leu792Pro) rs1593722897
NM_000053.4(ATP7B):c.2387T>A (p.Met796Lys)
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.4(ATP7B):c.2392C>T (p.Leu798Phe)
NM_000053.4(ATP7B):c.2394C>G (p.Leu798=) rs758690020
NM_000053.4(ATP7B):c.2413G>A (p.Val805Ile)
NM_000053.4(ATP7B):c.241T>A (p.Ser81Thr) rs1952034021
NM_000053.4(ATP7B):c.2426G>A (p.Gly809Asp)
NM_000053.4(ATP7B):c.2434A>C (p.Asn812His)
NM_000053.4(ATP7B):c.2435A>G (p.Asn812Ser)
NM_000053.4(ATP7B):c.2447+8_2447+9insAA rs746283578
NM_000053.4(ATP7B):c.2448-4G>T rs1593697433
NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser) rs1555296815
NM_000053.4(ATP7B):c.2469G>C (p.Glu823Asp) rs886050306
NM_000053.4(ATP7B):c.2473G>A (p.Val825Met)
NM_000053.4(ATP7B):c.2480G>A (p.Arg827Gln) rs368589213
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.2491G>A (p.Val831Ile)
NM_000053.4(ATP7B):c.2495A>C (p.Lys832Thr)
NM_000053.4(ATP7B):c.2501T>A (p.Val834Asp)
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu) rs773809011
NM_000053.4(ATP7B):c.2518C>T (p.Pro840Ser)
NM_000053.4(ATP7B):c.2543G>A (p.Gly848Asp)
NM_000053.4(ATP7B):c.2546A>G (p.Asn849Ser)
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2581G>A (p.Ala861Thr)
NM_000053.4(ATP7B):c.2588C>T (p.Pro863Leu)
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly) rs1555288669
NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu) rs121907994
NM_000053.4(ATP7B):c.262A>G (p.Ser88Gly)
NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys)
NM_000053.4(ATP7B):c.2641G>A (p.Gly881Ser) rs2139208285
NM_000053.4(ATP7B):c.2659G>C (p.Ala887Pro)
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.2666A>T (p.His889Leu)
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp) rs483352684
NM_000053.4(ATP7B):c.2672G>C (p.Gly891Ala) rs483352684
NM_000053.4(ATP7B):c.2674A>T (p.Asn892Tyr)
NM_000053.4(ATP7B):c.2675A>G (p.Asn892Ser)
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.268_270del (p.Lys90del) rs751970838
NM_000053.4(ATP7B):c.2698G>A (p.Val900Met)
NM_000053.4(ATP7B):c.26C>T (p.Thr9Ile)
NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu) rs1593695760
NM_000053.4(ATP7B):c.2708T>G (p.Val903Gly) rs1566500467
NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg)
NM_000053.4(ATP7B):c.2724G>A (p.Met908Ile) rs2139201407
NM_000053.4(ATP7B):c.2731G>A (p.Ala911Thr)
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val) rs1014184765
NM_000053.4(ATP7B):c.2735C>A (p.Pro912His) rs2139192970
NM_000053.4(ATP7B):c.2737A>G (p.Ile913Val)
NM_000053.4(ATP7B):c.2740C>G (p.Gln914Glu)
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2753A>C (p.Asp918Ala)
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2759T>G (p.Phe920Cys)
NM_000053.4(ATP7B):c.2768A>G (p.Tyr923Cys)
NM_000053.4(ATP7B):c.2787C>G (p.Ile929Met) rs773527867
NM_000053.4(ATP7B):c.2792T>C (p.Met931Thr) rs762875224
NM_000053.4(ATP7B):c.2826C>A (p.Ile942=) rs758712064
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2833A>G (p.Ile945Val)
NM_000053.4(ATP7B):c.2836G>A (p.Asp946Asn)
NM_000053.4(ATP7B):c.2837A>T (p.Asp946Val) rs2139186921
NM_000053.4(ATP7B):c.2843G>T (p.Gly948Val)
NM_000053.4(ATP7B):c.2845GTT[1] (p.Val950del) rs1424494639
NM_000053.4(ATP7B):c.2865+6T>G rs2139185644
NM_000053.4(ATP7B):c.2873A>G (p.Asn958Ser)
NM_000053.4(ATP7B):c.2875A>G (p.Lys959Glu)
NM_000053.4(ATP7B):c.2876A>T (p.Lys959Met)
NM_000053.4(ATP7B):c.2885C>T (p.Ser962Phe) rs760035704
NM_000053.4(ATP7B):c.2919G>A (p.Gln973=) rs537498754
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe) rs778163447
NM_000053.4(ATP7B):c.2957C>G (p.Ser986Cys)
NM_000053.4(ATP7B):c.2975C>A (p.Pro992His) rs201038679
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser) rs1555287372
NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr) rs770782111
NM_000053.4(ATP7B):c.2989G>A (p.Val997Met) rs1566485134
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3017G>A (p.Gly1006Asp) rs1184103234
NM_000053.4(ATP7B):c.3025A>G (p.Ile1009Val) rs2139050369
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) rs2139048200
NM_000053.4(ATP7B):c.3055C>A (p.His1019Asn) rs2139046533
NM_000053.4(ATP7B):c.3056A>G (p.His1019Arg)
NM_000053.4(ATP7B):c.3060G>T (p.Lys1020Asn) rs1957646412
NM_000053.4(ATP7B):c.3061-12T>G
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala) rs1416453532
NM_000053.4(ATP7B):c.3094A>G (p.Ile1032Val)
NM_000053.4(ATP7B):c.3097A>G (p.Thr1033Ala) rs1555286620
NM_000053.4(ATP7B):c.3106G>T (p.Val1036Phe) rs761147984
NM_000053.4(ATP7B):c.3118A>T (p.Met1040Leu)
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.3143T>A (p.Val1048Glu) rs1423091096
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3160A>G (p.Arg1054Gly) rs377586515
NM_000053.4(ATP7B):c.3185C>T (p.Thr1062Ile) rs763053197
NM_000053.4(ATP7B):c.3187G>A (p.Ala1063Thr) rs2138948476
NM_000053.4(ATP7B):c.3199A>G (p.Ser1067Gly)
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3215G>A (p.Gly1072Asp) rs1397311718
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)
NM_000053.4(ATP7B):c.322T>C (p.Cys108Arg) rs1566603189
NM_000053.4(ATP7B):c.3235T>C (p.Cys1079Arg) rs1376645882
NM_000053.4(ATP7B):c.3237T>G (p.Cys1079Trp) rs1957506216
NM_000053.4(ATP7B):c.3239A>G (p.Lys1080Arg)
NM_000053.4(ATP7B):c.3243+5G>C
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3266G>T (p.Gly1089Val)
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly) rs1022670769
NM_000053.4(ATP7B):c.3280_3281insGTAT (p.Phe1094fs) rs1566469148
NM_000053.4(ATP7B):c.3286G>A (p.Ala1096Thr)
NM_000053.4(ATP7B):c.3292C>T (p.Pro1098Ser)
NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser) rs1566468882
NM_000053.4(ATP7B):c.3298T>C (p.Cys1100Arg)
NM_000053.4(ATP7B):c.3320_3322del (p.Ser1107del) rs760772190
NM_000053.4(ATP7B):c.3322A>C (p.Asn1108His)
NM_000053.4(ATP7B):c.3323A>C (p.Asn1108Thr)
NM_000053.4(ATP7B):c.3325G>A (p.Val1109Met)
NM_000053.4(ATP7B):c.3329A>C (p.Glu1110Ala)
NM_000053.4(ATP7B):c.3334A>T (p.Ile1112Phe) rs770624100
NM_000053.4(ATP7B):c.3341C>T (p.Ala1114Val) rs2138850408
NM_000053.4(ATP7B):c.334G>T (p.Val112Phe)
NM_000053.4(ATP7B):c.3352C>T (p.Arg1118Cys)
NM_000053.4(ATP7B):c.3353G>A (p.Arg1118His)
NM_000053.4(ATP7B):c.3373A>G (p.Ser1125Gly)
NM_000053.4(ATP7B):c.33A>T (p.Arg11Ser)
NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly)
NM_000053.4(ATP7B):c.3412+15T>A rs565888819
NM_000053.4(ATP7B):c.3413A>G (p.Asp1138Gly)
NM_000053.4(ATP7B):c.3418G>A (p.Val1140Ile)
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del) rs1555285393
NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys)
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly) rs755554442
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3454G>A (p.Glu1152Lys)
NM_000053.4(ATP7B):c.3466C>T (p.Arg1156Cys)
NM_000053.4(ATP7B):c.3472G>C (p.Gly1158Arg)
NM_000053.4(ATP7B):c.3477A>T (p.Leu1159Phe)
NM_000053.4(ATP7B):c.3484T>C (p.Ser1162Pro) rs2138782354
NM_000053.4(ATP7B):c.3485C>T (p.Ser1162Phe)
NM_000053.4(ATP7B):c.348T>A (p.Ile116=) rs2140105580
NM_000053.4(ATP7B):c.3493G>A (p.Val1165Ile)
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.4(ATP7B):c.3507G>A (p.Met1169Ile)
NM_000053.4(ATP7B):c.3520A>G (p.Met1174Val) rs750407028
NM_000053.4(ATP7B):c.3523A>C (p.Lys1175Gln)
NM_000053.4(ATP7B):c.353A>G (p.Asp118Gly)
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3555C>T (p.Asp1185=)
NM_000053.4(ATP7B):c.3556+3A>G
NM_000053.4(ATP7B):c.3569G>T (p.Gly1190Val)
NM_000053.4(ATP7B):c.3575T>C (p.Ile1192Thr)
NM_000053.4(ATP7B):c.3577G>A (p.Ala1193Thr)
NM_000053.4(ATP7B):c.3608C>T (p.Ala1203Val) rs1593652348
NM_000053.4(ATP7B):c.360C>T (p.Gly120=) rs1952028232
NM_000053.4(ATP7B):c.3616G>C (p.Val1206Leu)
NM_000053.4(ATP7B):c.3619C>T (p.His1207Tyr) rs766820841
NM_000053.4(ATP7B):c.3623C>G (p.Thr1208Arg)
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.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly) rs1555284575
NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly)
NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del) rs886042519
NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)
NM_000053.4(ATP7B):c.3679G>A (p.Ala1227Thr) rs1957152812
NM_000053.4(ATP7B):c.367G>T (p.Ala123Ser) rs758769928
NM_000053.4(ATP7B):c.3680C>A (p.Ala1227Asp) rs1566451314
NM_000053.4(ATP7B):c.3692C>T (p.Ala1231Val)
NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys) rs1957150974
NM_000053.4(ATP7B):c.3699+3A>G rs1459548901
NM_000053.4(ATP7B):c.3700-3T>G rs2138592787
NM_000053.4(ATP7B):c.3727G>T (p.Val1243Leu) rs1277243795
NM_000053.4(ATP7B):c.3731T>C (p.Leu1244Pro) rs2138587892
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln) rs767464491
NM_000053.4(ATP7B):c.3752A>T (p.Lys1251Met)
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=) rs1395442643
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3788C>G (p.Ala1263Gly)
NM_000053.4(ATP7B):c.3797G>A (p.Gly1266Glu) rs1566444586
NM_000053.4(ATP7B):c.3812A>G (p.Asp1271Gly)
NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val) rs1555283882
NM_000053.4(ATP7B):c.3824T>C (p.Leu1275Ser)
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val) rs1375884723
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.383G>A (p.Gly128Glu)
NM_000053.4(ATP7B):c.3841G>T (p.Gly1281Cys) rs1957043636
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val) rs755202606
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del) rs1555283826
NM_000053.4(ATP7B):c.3860G>A (p.Gly1287Asp) rs2138574727
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro) rs1257330000
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3880G>A (p.Ala1294Thr)
NM_000053.4(ATP7B):c.3899T>C (p.Ile1300Thr) rs1957038377
NM_000053.4(ATP7B):c.38G>A (p.Gly13Glu)
NM_000053.4(ATP7B):c.3901A>G (p.Arg1301Gly)
NM_000053.4(ATP7B):c.3903+6C>A
NM_000053.4(ATP7B):c.3926C>T (p.Ala1309Val)
NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly) rs1210164486
NM_000053.4(ATP7B):c.3929G>A (p.Ser1310Asn)
NM_000053.4(ATP7B):c.3932T>G (p.Ile1311Ser) rs2138563688
NM_000053.4(ATP7B):c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu) rs2138562773
NM_000053.4(ATP7B):c.3952G>C (p.Val1318Leu)
NM_000053.4(ATP7B):c.3955C>G (p.Arg1319Gly)
NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His) rs753330854
NM_000053.4(ATP7B):c.3965G>C (p.Arg1322Pro)
NM_000053.4(ATP7B):c.3967A>G (p.Ile1323Val)
NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr) rs760285767
NM_000053.4(ATP7B):c.3980T>C (p.Leu1327Pro) rs2138559197
NM_000053.4(ATP7B):c.3982G>A (p.Ala1328Thr) rs1333619338
NM_000053.4(ATP7B):c.3999G>A (p.Leu1333=) rs186435141
NM_000053.4(ATP7B):c.4003G>A (p.Gly1335Arg)
NM_000053.4(ATP7B):c.4012A>G (p.Ile1338Val)
NM_000053.4(ATP7B):c.4021+3dup
NM_000053.4(ATP7B):c.4021+5G>C
NM_000053.4(ATP7B):c.4027_4029dup (p.Phe1343_Met1344insPhe)
NM_000053.4(ATP7B):c.4036A>G (p.Ile1346Val)
NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg) rs1160679283
NM_000053.4(ATP7B):c.4058G>C (p.Trp1353Ser)
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val) rs1305262063
NM_000053.4(ATP7B):c.4066T>C (p.Ser1356Pro) rs1555282748
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4076_4077delinsAT (p.Met1359Asn)
NM_000053.4(ATP7B):c.4084T>A (p.Ser1362Thr)
NM_000053.4(ATP7B):c.4090G>C (p.Val1364Leu) rs1566434432
NM_000053.4(ATP7B):c.4094C>T (p.Ser1365Phe)
NM_000053.4(ATP7B):c.40G>A (p.Ala14Thr)
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4112T>G (p.Leu1371Arg) rs1444841250
NM_000053.4(ATP7B):c.4114C>A (p.Gln1372Lys)
NM_000053.4(ATP7B):c.4116G>C (p.Gln1372His)
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.4(ATP7B):c.4124+4A>G rs2138450931
NM_000053.4(ATP7B):c.4124+6T>C rs2138450581
NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser) rs1365425480
NM_000053.4(ATP7B):c.4125-1G>A rs1293549383
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.4127A>C (p.Tyr1376Ser) rs1555282338
NM_000053.4(ATP7B):c.4141C>G (p.Leu1381Val)
NM_000053.4(ATP7B):c.4174A>G (p.Met1392Val)
NM_000053.4(ATP7B):c.4174A>T (p.Met1392Leu)
NM_000053.4(ATP7B):c.4181C>T (p.Pro1394Leu) rs1041361346
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met)
NM_000053.4(ATP7B):c.4192T>A (p.Ser1398Thr) rs2138408411
NM_000053.4(ATP7B):c.419C>T (p.Ala140Val)
NM_000053.4(ATP7B):c.4231C>G (p.Arg1411Gly)
NM_000053.4(ATP7B):c.424G>C (p.Glu142Gln)
NM_000053.4(ATP7B):c.4268G>A (p.Ser1423Asn) rs755388647
NM_000053.4(ATP7B):c.4273G>A (p.Val1425Ile)
NM_000053.4(ATP7B):c.4277G>T (p.Ser1426Ile)
NM_000053.4(ATP7B):c.4280A>G (p.Gln1427Arg)
NM_000053.4(ATP7B):c.4282_4285delinsATAA (p.Val1428_Ser1429delinsIleThr) rs2138396076
NM_000053.4(ATP7B):c.4283T>C (p.Val1428Ala)
NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu) rs1956864058
NM_000053.4(ATP7B):c.4290del (p.Ser1431fs) rs1555282185
NM_000053.4(ATP7B):c.4306G>A (p.Asp1436Asn)
NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro) rs1454806333
NM_000053.4(ATP7B):c.4316C>G (p.Ser1439Cys)
NM_000053.4(ATP7B):c.431T>C (p.Val144Ala)
NM_000053.4(ATP7B):c.4323C>G (p.His1441Gln)
NM_000053.4(ATP7B):c.4325del (p.Ser1442fs) rs774744497
NM_000053.4(ATP7B):c.4327G>A (p.Ala1443Thr)
NM_000053.4(ATP7B):c.4327G>T (p.Ala1443Ser) rs764383437
NM_000053.4(ATP7B):c.432G>T (p.Val144=) rs2140102093
NM_000053.4(ATP7B):c.432_434del (p.Val145del) rs1555296674
NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs) rs1555282097
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703
NM_000053.4(ATP7B):c.433G>T (p.Val145Phe) rs183365083
NM_000053.4(ATP7B):c.4348G>A (p.Asp1450Asn)
NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly) rs1593633844
NM_000053.4(ATP7B):c.437A>G (p.Lys146Arg)
NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter) rs1392030070
NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg) rs202131204
NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)
NM_000053.4(ATP7B):c.449A>C (p.Glu150Ala)
NM_000053.4(ATP7B):c.464A>G (p.Gln155Arg)
NM_000053.4(ATP7B):c.46C>G (p.Arg16Gly)
NM_000053.4(ATP7B):c.486A>C (p.Glu162Asp)
NM_000053.4(ATP7B):c.501A>T (p.Lys167Asn)
NM_000053.4(ATP7B):c.51+3G>A rs2140766975
NM_000053.4(ATP7B):c.51+3G>C
NM_000053.4(ATP7B):c.512T>C (p.Val171Ala)
NM_000053.4(ATP7B):c.530C>T (p.Ser177Leu)
NM_000053.4(ATP7B):c.555C>G (p.Ile185Met)
NM_000053.4(ATP7B):c.556A>G (p.Thr186Ala)
NM_000053.4(ATP7B):c.579G>C (p.Gln193His)
NM_000053.4(ATP7B):c.580C>T (p.Pro194Ser)
NM_000053.4(ATP7B):c.595G>T (p.Asp199Tyr)
NM_000053.4(ATP7B):c.599A>G (p.His200Arg)
NM_000053.4(ATP7B):c.604A>G (p.Asn202Asp) rs1952013968
NM_000053.4(ATP7B):c.611T>C (p.Met204Thr)
NM_000053.4(ATP7B):c.613G>A (p.Gly205Arg) rs528587507
NM_000053.4(ATP7B):c.618T>A (p.Phe206Leu) rs764353593
NM_000053.4(ATP7B):c.62A>T (p.Lys21Met)
NM_000053.4(ATP7B):c.664A>C (p.Ile222Leu)
NM_000053.4(ATP7B):c.677G>A (p.Arg226Gln)
NM_000053.4(ATP7B):c.690T>C (p.Thr230=) rs1033565003
NM_000053.4(ATP7B):c.694C>T (p.Pro232Ser)
NM_000053.4(ATP7B):c.697A>G (p.Lys233Glu)
NM_000053.4(ATP7B):c.703C>G (p.Pro235Ala) rs2140092373
NM_000053.4(ATP7B):c.703_705del (p.Pro235del)
NM_000053.4(ATP7B):c.71del (p.Leu24fs)
NM_000053.4(ATP7B):c.748G>A (p.Gly250Arg)
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.789A>G (p.Ile263Met) rs2140089802
NM_000053.4(ATP7B):c.78C>G (p.Thr26=) rs1227368750
NM_000053.4(ATP7B):c.797T>A (p.Met266Lys) rs2140089674
NM_000053.4(ATP7B):c.814G>C (p.Val272Leu)
NM_000053.4(ATP7B):c.835A>G (p.Ile279Val) rs1952002052
NM_000053.4(ATP7B):c.839G>A (p.Gly280Asp) rs1411428188
NM_000053.4(ATP7B):c.853G>A (p.Val285Ile)
NM_000053.4(ATP7B):c.854T>G (p.Val285Gly) rs1411865806
NM_000053.4(ATP7B):c.869T>C (p.Val290Ala)
NM_000053.4(ATP7B):c.879G>T (p.Glu293Asp) rs1593789326
NM_000053.4(ATP7B):c.894A>G (p.Gln298=)
NM_000053.4(ATP7B):c.895G>C (p.Val299Leu) rs146791250
NM_000053.4(ATP7B):c.913T>C (p.Cys305Arg)
NM_000053.4(ATP7B):c.914G>A (p.Cys305Tyr)
NM_000053.4(ATP7B):c.923C>T (p.Pro308Leu) rs1951995908
NM_000053.4(ATP7B):c.943A>G (p.Ile315Val) rs745596221
NM_000053.4(ATP7B):c.958C>T (p.Pro320Ser)
NM_000053.4(ATP7B):c.989G>A (p.Gly330Glu)
NM_000053.4(ATP7B):c.98T>G (p.Met33Arg)
NM_000053.4(ATP7B):c.998G>A (p.Gly333Glu)
NM_000053.4(ATP7B):c.9G>C (p.Glu3Asp)
NM_001243182.1(ATP7B):c.-117delinsATCGGC rs1555304632

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