ClinVar Miner

List of variants in gene ATP7A reported as likely benign for disorder of metabolite absorption and transport

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 845
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934 0.00078
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012 0.00020
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939 0.00016
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu) rs149576827 0.00015
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000052.7(ATP7A):c.3659-12C>T rs1012193744 0.00011
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500 0.00009
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile) rs146392305 0.00009
NM_000052.7(ATP7A):c.1947-3A>G rs782237008 0.00008
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352 0.00008
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331 0.00007
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982 0.00006
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963 0.00006
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433 0.00006
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln) rs782166627 0.00006
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val) rs1189996419 0.00006
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser) rs368147403 0.00006
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940 0.00005
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) rs781950759 0.00005
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn) rs781927920 0.00005
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) rs782076879 0.00005
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437 0.00005
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu) rs782566688 0.00005
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) rs782154912 0.00005
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn) rs1057520234 0.00005
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540 0.00005
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys) rs781970260 0.00005
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493 0.00005
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609 0.00005
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990 0.00005
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=) rs376042813 0.00004
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911 0.00004
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596 0.00004
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=) rs377355446 0.00004
NM_000052.7(ATP7A):c.2172+7G>T rs782433802 0.00004
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=) rs1307515001 0.00004
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=) rs1325311308 0.00004
NM_000052.7(ATP7A):c.4005+19C>A rs1231604254 0.00004
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=) rs146052682 0.00004
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318 0.00004
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser) rs372780635 0.00003
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln) rs201763950 0.00003
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly) rs1557232788 0.00003
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=) rs1297787618 0.00003
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847 0.00003
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met) rs139902461 0.00003
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638 0.00003
NM_000052.7(ATP7A):c.1870-12G>T rs1203434891 0.00003
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys) rs781837620 0.00003
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967 0.00003
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val) rs782430502 0.00003
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val) rs782513950 0.00003
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064 0.00003
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly) rs782231801 0.00003
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val) rs781866452 0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr) rs936157944 0.00003
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924 0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314 0.00003
NM_000052.7(ATP7A):c.984A>G (p.Pro328=) rs2077657952 0.00003
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu) rs1557231845 0.00002
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu) rs782651571 0.00002
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser) rs879981699 0.00002
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn) rs782083382 0.00002
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) rs781952393 0.00002
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=) rs375479026 0.00002
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val) rs782444523 0.00002
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472 0.00002
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val) rs781961626 0.00002
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241 0.00002
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp) rs782761381 0.00002
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met) rs782269377 0.00002
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys) rs782555092 0.00002
NM_000052.7(ATP7A):c.2173-7A>T rs376179410 0.00002
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=) rs572956005 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=) rs1473914623 0.00002
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=) rs1445955792 0.00002
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761 0.00002
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg) rs1264242478 0.00002
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043 0.00002
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866 0.00002
NM_000052.7(ATP7A):c.2916+10T>G rs2077902893 0.00002
NM_000052.7(ATP7A):c.2917-9C>T rs188421674 0.00002
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358 0.00002
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620 0.00002
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val) rs782463394 0.00002
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly) rs781914030 0.00002
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) rs1179465472 0.00002
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys) rs1557238006 0.00002
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966 0.00002
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn) rs1374099672 0.00002
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val) rs1385333276 0.00002
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu) rs782428979 0.00002
NM_000052.7(ATP7A):c.4006-7T>C rs1406270253 0.00002
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg) rs781912153 0.00002
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr) rs781912401 0.00002
NM_000052.7(ATP7A):c.4124-17C>T rs371435031 0.00002
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811 0.00002
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp) rs782232632 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138 0.00002
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) rs781838499 0.00002
NM_000052.7(ATP7A):c.588G>A (p.Leu196=) rs782253237 0.00002
NM_000052.7(ATP7A):c.611-7T>C rs781898993 0.00002
NM_000052.7(ATP7A):c.6T>C (p.Asp2=) rs951178780 0.00002
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His) rs1557231780 0.00002
NM_000052.7(ATP7A):c.840T>G (p.Thr280=) rs782713333 0.00002
NM_000052.7(ATP7A):c.909A>G (p.Gln303=) rs372389715 0.00002
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=) rs374656309 0.00001
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) rs368982547 0.00001
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser) rs1557231866 0.00001
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val) rs1349223430 0.00001
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=) rs147225045 0.00001
NM_000052.7(ATP7A):c.121-12T>C rs1557231556 0.00001
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val) rs782815622 0.00001
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr) rs1557231909 0.00001
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser) rs782505393 0.00001
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe) rs782635238 0.00001
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly) rs782530774 0.00001
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly) rs2077660217 0.00001
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met) rs782018636 0.00001
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=) rs143036870 0.00001
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=) rs782148279 0.00001
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala) rs1227094533 0.00001
NM_000052.7(ATP7A):c.1337-5A>G rs371146030 0.00001
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=) rs782292643 0.00001
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005 0.00001
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala) rs782416233 0.00001
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly) rs781834607 0.00001
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=) rs782495317 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly) rs368355216 0.00001
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly) rs1557233359 0.00001
NM_000052.7(ATP7A):c.1590A>G (p.Val530=) rs1557233367 0.00001
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=) rs1056057247 0.00001
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) rs782491733 0.00001
NM_000052.7(ATP7A):c.168A>G (p.Leu56=) rs782612734 0.00001
NM_000052.7(ATP7A):c.1707+16T>C rs1557233398 0.00001
NM_000052.7(ATP7A):c.1708-9C>G rs1557234077 0.00001
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895 0.00001
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val) rs375103934 0.00001
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His) rs782764596 0.00001
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu) rs781872960 0.00001
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val) rs1318638094 0.00001
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=) rs782299586 0.00001
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=) rs782315947 0.00001
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln) rs1557234412 0.00001
NM_000052.7(ATP7A):c.1946+11T>C rs1557234428 0.00001
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466 0.00001
NM_000052.7(ATP7A):c.1947-7A>G rs2077824853 0.00001
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) rs782629836 0.00001
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu) rs781792854 0.00001
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461 0.00001
NM_000052.7(ATP7A):c.204C>T (p.Asp68=) rs1557231573 0.00001
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu) rs1557234510 0.00001
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=) rs1318545869 0.00001
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His) rs2234936 0.00001
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=) rs782037158 0.00001
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val) rs1557234537 0.00001
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu) rs1557234543 0.00001
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581 0.00001
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu) rs782240491 0.00001
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr) rs782389012 0.00001
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn) rs782293297 0.00001
NM_000052.7(ATP7A):c.2253G>A (p.Val751=) rs782375469 0.00001
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val) rs1157086859 0.00001
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val) rs1557234739 0.00001
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp) rs1443260520 0.00001
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=) rs2077838145 0.00001
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) rs1557234754 0.00001
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val) rs782770209 0.00001
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val) rs1557234931 0.00001
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=) rs781953495 0.00001
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204 0.00001
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070 0.00001
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=) rs1420350554 0.00001
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120 0.00001
NM_000052.7(ATP7A):c.255T>C (p.Thr85=) rs1557231589 0.00001
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=) rs1557235088 0.00001
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236 0.00001
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=) rs1557235097 0.00001
NM_000052.7(ATP7A):c.2627-17C>T rs782200911 0.00001
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=) rs781928048 0.00001
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=) rs1557235606 0.00001
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=) rs1396353749 0.00001
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile) rs369335432 0.00001
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) rs1557235619 0.00001
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu) rs782225818 0.00001
NM_000052.7(ATP7A):c.2865A>G (p.Val955=) rs1557235728 0.00001
NM_000052.7(ATP7A):c.2917-7T>C rs376898023 0.00001
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp) rs1557236695 0.00001
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698 0.00001
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109 0.00001
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872 0.00001
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220 0.00001
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) rs1057518370 0.00001
NM_000052.7(ATP7A):c.318A>G (p.Thr106=) rs781851530 0.00001
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=) rs2077983590 0.00001
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=) rs1557237065 0.00001
NM_000052.7(ATP7A):c.3294+10T>A rs2077984363 0.00001
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser) rs782066060 0.00001
NM_000052.7(ATP7A):c.330C>A (p.Thr110=) rs1557231608 0.00001
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn) rs782548907 0.00001
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val) rs371409820 0.00001
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) rs1363235909 0.00001
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln) rs782435305 0.00001
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=) rs1391918882 0.00001
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile) rs782026169 0.00001
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=) rs782173299 0.00001
NM_000052.7(ATP7A):c.3659-5A>G rs1557238245 0.00001
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232 0.00001
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=) rs1557238252 0.00001
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg) rs1557238254 0.00001
NM_000052.7(ATP7A):c.3802-9A>G rs1557238565 0.00001
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=) rs895520660 0.00001
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu) rs782628250 0.00001
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=) rs782582761 0.00001
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=) rs781872987 0.00001
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=) rs1271447006 0.00001
NM_000052.7(ATP7A):c.4005+10A>G rs782188201 0.00001
NM_000052.7(ATP7A):c.4006-11T>A rs1325784914 0.00001
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val) rs782161783 0.00001
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=) rs781939808 0.00001
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu) rs1557231629 0.00001
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser) rs189818149 0.00001
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=) rs2078077936 0.00001
NM_000052.7(ATP7A):c.4227-12del rs1557239080 0.00001
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=) rs990337633 0.00001
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=) rs1569550372 0.00001
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg) rs1557239111 0.00001
NM_000052.7(ATP7A):c.4311T>C (p.His1437=) rs782541211 0.00001
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp) rs1557239117 0.00001
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp) rs1457236338 0.00001
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His) rs782272603 0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633 0.00001
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys) rs1557239144 0.00001
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala) rs782799150 0.00001
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=) rs1557239148 0.00001
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=) rs782053901 0.00001
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555 0.00001
NM_000052.7(ATP7A):c.498T>C (p.Ala166=) rs782701351 0.00001
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp) rs782485590 0.00001
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553 0.00001
NM_000052.7(ATP7A):c.514G>A (p.Val172Met) rs782248978 0.00001
NM_000052.7(ATP7A):c.531G>A (p.Val177=) rs1557231650 0.00001
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys) rs782675275 0.00001
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro) rs1557231656 0.00001
NM_000052.7(ATP7A):c.579T>A (p.Ile193=) rs2077652795 0.00001
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser) rs1557231670 0.00001
NM_000052.7(ATP7A):c.611-4C>T rs1287080060 0.00001
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) rs1557231734 0.00001
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys) rs374855698 0.00001
NM_000052.7(ATP7A):c.807G>A (p.Arg269=) rs868946047 0.00001
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu) rs782146244 0.00001
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu) rs1039952708 0.00001
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg) rs782449900 0.00001
NM_000052.7(ATP7A):c.933T>C (p.Ser311=) rs782638418 0.00001
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=) rs1557231829 0.00001
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=)
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=) rs374656309
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=)
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala) rs1557231859
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=) rs2149083275
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=)
NM_000052.7(ATP7A):c.108G>A (p.Val36=) rs2149073882
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile)
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala) rs782616685
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys) rs2077659011
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=)
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=) rs2149083320
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=) rs2149083338
NM_000052.7(ATP7A):c.1176G>A (p.Val392=) rs2149083343
NM_000052.7(ATP7A):c.117T>A (p.Ile39=)
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=) rs2149083355
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val)
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr)
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=) rs2149083372
NM_000052.7(ATP7A):c.120+14T>C
NM_000052.7(ATP7A):c.120+15G>A
NM_000052.7(ATP7A):c.120+20C>T
NM_000052.7(ATP7A):c.120+7T>C rs2149073895
NM_000052.7(ATP7A):c.120+8A>T
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)
NM_000052.7(ATP7A):c.121-12T>G
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
NM_000052.7(ATP7A):c.1257T>G (p.Val419=)
NM_000052.7(ATP7A):c.126A>G (p.Ser42=) rs2149082519
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=) rs2149083467
NM_000052.7(ATP7A):c.1336+10A>G
NM_000052.7(ATP7A):c.1336+7dup
NM_000052.7(ATP7A):c.1336+9C>A
NM_000052.7(ATP7A):c.1337-16T>A
NM_000052.7(ATP7A):c.1337-17C>G
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met)
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=) rs2149087769
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=) rs782421584
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=) rs2077718812
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=) rs2149087828
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=) rs2077719509
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=) rs2149087866
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
NM_000052.7(ATP7A):c.147T>C (p.Thr49=)
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser)
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser)
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=)
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg)
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=) rs2149087893
NM_000052.7(ATP7A):c.150T>A (p.Ile50=) rs2149082532
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=) rs1557232820
NM_000052.7(ATP7A):c.1543+15A>G
NM_000052.7(ATP7A):c.1543+17G>A rs2149087916
NM_000052.7(ATP7A):c.1543+18C>T
NM_000052.7(ATP7A):c.1543+8A>C
NM_000052.7(ATP7A):c.1544-16T>G
NM_000052.7(ATP7A):c.1544-7C>T rs2149090207
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val)
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=) rs2149090230
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=) rs2149090234
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys)
NM_000052.7(ATP7A):c.159C>T (p.Asp53=) rs2149082542
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=) rs2149090265
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
NM_000052.7(ATP7A):c.166C>T (p.Leu56=) rs2149082544
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr) rs1603383823
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val) rs782561107
NM_000052.7(ATP7A):c.1695T>C (p.Val565=) rs2149090293
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=) rs2149090295
NM_000052.7(ATP7A):c.1707+12T>G
NM_000052.7(ATP7A):c.1707+17G>A
NM_000052.7(ATP7A):c.1707+19G>A
NM_000052.7(ATP7A):c.1707+9G>C rs2149090300
NM_000052.7(ATP7A):c.1708-16G>A
NM_000052.7(ATP7A):c.1708-5A>C rs782104249
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=) rs2149093501
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=) rs2149093521
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=) rs1557234093
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=)
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser) rs1569549840
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala)
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
NM_000052.7(ATP7A):c.1869+12G>T
NM_000052.7(ATP7A):c.1869+17del
NM_000052.7(ATP7A):c.1869+7G>A rs2149093596
NM_000052.7(ATP7A):c.1869+7G>T rs2149093596
NM_000052.7(ATP7A):c.1869+9C>G rs2149093599
NM_000052.7(ATP7A):c.186A>G (p.Leu62=) rs2149082562
NM_000052.7(ATP7A):c.1870-14A>G
NM_000052.7(ATP7A):c.1870-18T>C
NM_000052.7(ATP7A):c.1870-7T>G
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=) rs2149094927
NM_000052.7(ATP7A):c.1896C>G (p.Val632=) rs2149094955
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=)
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=)
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly)
NM_000052.7(ATP7A):c.1920C>T (p.His640=) rs2149094980
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu)
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=)
NM_000052.7(ATP7A):c.1946+10T>G rs2149095008
NM_000052.7(ATP7A):c.1946+12G>A
NM_000052.7(ATP7A):c.1946+12G>C
NM_000052.7(ATP7A):c.1946+15G>C
NM_000052.7(ATP7A):c.1946+16T>G
NM_000052.7(ATP7A):c.1947-15T>C
NM_000052.7(ATP7A):c.1947-16A>C
NM_000052.7(ATP7A):c.1947-16_1947-14del rs2077824641
NM_000052.7(ATP7A):c.1947-16del rs2149095131
NM_000052.7(ATP7A):c.1947-17T>A
NM_000052.7(ATP7A):c.1947-18T>C
NM_000052.7(ATP7A):c.1947-19T>C
NM_000052.7(ATP7A):c.1947-7A>C
NM_000052.7(ATP7A):c.1947-9C>T rs2077824790
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=) rs2077825077
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu)
NM_000052.7(ATP7A):c.1992A>G (p.Val664=)
NM_000052.7(ATP7A):c.19G>A (p.Val7Met)
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=) rs2077825500
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=) rs2077825500
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=) rs2149095200
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
NM_000052.7(ATP7A):c.2028C>T (p.His676=) rs2149095212
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=) rs2077825942
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=) rs2149095237
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=) rs2077826356
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=)
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe)
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=) rs2077826844
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=) rs2149095287
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=) rs797045346
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
NM_000052.7(ATP7A):c.2172+12G>C rs1557234548
NM_000052.7(ATP7A):c.2172+13T>C
NM_000052.7(ATP7A):c.2172+8A>C rs2149095311
NM_000052.7(ATP7A):c.2173-15A>T
NM_000052.7(ATP7A):c.2173-4G>T
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=)
NM_000052.7(ATP7A):c.21G>C (p.Val7=) rs2149073808
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys)
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
NM_000052.7(ATP7A):c.2244A>G (p.Val748=) rs2149095993
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=)
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
NM_000052.7(ATP7A):c.2253G>T (p.Val751=)
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=)
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=) rs2149096003
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=) rs1473914623
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=)
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=) rs2149096036
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=) rs2149096038
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=)
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=)
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=)
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=) rs2149096056
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=) rs2149096057
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=) rs1208805004
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=) rs1603385697
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
NM_000052.7(ATP7A):c.2406+12A>C
NM_000052.7(ATP7A):c.2406+14G>A
NM_000052.7(ATP7A):c.2406+14G>T
NM_000052.7(ATP7A):c.2406+16G>A
NM_000052.7(ATP7A):c.2406+16G>T
NM_000052.7(ATP7A):c.2406+16_2406+18del rs782017566
NM_000052.7(ATP7A):c.2406+19A>T
NM_000052.7(ATP7A):c.2407-19T>A
NM_000052.7(ATP7A):c.2407-19TGTT[3]
NM_000052.7(ATP7A):c.2407-4A>G rs2149096806
NM_000052.7(ATP7A):c.2407-4A>T rs2149096806
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=) rs782694822
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile)
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=) rs2149096833
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=)
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=) rs2149096836
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=) rs2149096842
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)
NM_000052.7(ATP7A):c.2498+16C>G
NM_000052.7(ATP7A):c.2498+18T>C
NM_000052.7(ATP7A):c.2499-10T>C rs2149097330
NM_000052.7(ATP7A):c.2499-11C>A
NM_000052.7(ATP7A):c.2499-12A>T rs2149097328
NM_000052.7(ATP7A):c.2499-18A>G
NM_000052.7(ATP7A):c.2499-20T>C
NM_000052.7(ATP7A):c.2499-7T>A
NM_000052.7(ATP7A):c.2526A>G (p.Val842=)
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg)
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=)
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=) rs2149097387
NM_000052.7(ATP7A):c.2586T>G (p.Val862=) rs2149097395
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile) rs782769542
NM_000052.7(ATP7A):c.261C>G (p.Thr87=) rs2149082604
NM_000052.7(ATP7A):c.2626+11T>G rs2077859760
NM_000052.7(ATP7A):c.2626+12C>G
NM_000052.7(ATP7A):c.2626+13A>G
NM_000052.7(ATP7A):c.2626+16G>A rs2149097436
NM_000052.7(ATP7A):c.2626+17G>C
NM_000052.7(ATP7A):c.2626+18A>G
NM_000052.7(ATP7A):c.2626+8C>T rs2149097424
NM_000052.7(ATP7A):c.2627-13A>T
NM_000052.7(ATP7A):c.2627-16T>G
NM_000052.7(ATP7A):c.2627-19A>G
NM_000052.7(ATP7A):c.2627-19A>T
NM_000052.7(ATP7A):c.2627-7C>T rs1603386991
NM_000052.7(ATP7A):c.2627-8C>G
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=)
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=) rs781976106
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=) rs2149099638
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=)
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=) rs2149099672
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=) rs2149099676
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val)
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=) rs1396353749
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=) rs1193758510
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr)
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala)
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=) rs2149099708
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=) rs1603387045
NM_000052.7(ATP7A):c.2781+14C>T
NM_000052.7(ATP7A):c.2781+17G>C
NM_000052.7(ATP7A):c.2781+8A>T rs2149099742
NM_000052.7(ATP7A):c.2782-11T>C
NM_000052.7(ATP7A):c.2782-13T>C
NM_000052.7(ATP7A):c.2782-14A>G
NM_000052.7(ATP7A):c.2782-14del
NM_000052.7(ATP7A):c.2782-4C>T
NM_000052.7(ATP7A):c.2782-6T>C
NM_000052.7(ATP7A):c.2782-8A>C rs2149100096
NM_000052.7(ATP7A):c.2782-9T>C
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=) rs2149100114
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=) rs2149100126
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
NM_000052.7(ATP7A):c.2874A>C (p.Val958=)
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val)
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp)
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=)
NM_000052.7(ATP7A):c.2916+19C>T
NM_000052.7(ATP7A):c.2917-13C>A rs1343084607
NM_000052.7(ATP7A):c.2917-13C>T
NM_000052.7(ATP7A):c.2917-14C>T
NM_000052.7(ATP7A):c.2917-15G>T
NM_000052.7(ATP7A):c.2917-16T>C
NM_000052.7(ATP7A):c.2917-19T>G
NM_000052.7(ATP7A):c.2917-6C>T
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=) rs1557236690
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=) rs72554649
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=)
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=) rs2077967350
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=) rs2077967684
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=) rs2149104881
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=) rs2149104907
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=)
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=) rs2149104924
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=) rs2149104926
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys)
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=)
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met)
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=)
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=) rs2149104947
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr) rs2077968562
NM_000052.7(ATP7A):c.3111+10T>C
NM_000052.7(ATP7A):c.3111+10T>G
NM_000052.7(ATP7A):c.3111+11C>A
NM_000052.7(ATP7A):c.3111+13C>G
NM_000052.7(ATP7A):c.3111+18A>T rs2149104971
NM_000052.7(ATP7A):c.3111+19C>T
NM_000052.7(ATP7A):c.3111+7C>T
NM_000052.7(ATP7A):c.3111+8A>G
NM_000052.7(ATP7A):c.3112-15_3112-14dup rs2077982901
NM_000052.7(ATP7A):c.3112-16C>G rs2149106076
NM_000052.7(ATP7A):c.3112-18A>G
NM_000052.7(ATP7A):c.3112-5T>C rs2149106085
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro)
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=) rs797045370
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=)
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=)
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=)
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=) rs2149106139
NM_000052.7(ATP7A):c.319T>C (p.Leu107=) rs2149082638
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg)
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val)
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=) rs2149106153
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=) rs2149106168
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=) rs2149106169
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
NM_000052.7(ATP7A):c.3294+14C>T
NM_000052.7(ATP7A):c.3294+15dup
NM_000052.7(ATP7A):c.3294+16C>T
NM_000052.7(ATP7A):c.3294+7T>G
NM_000052.7(ATP7A):c.3295-11_3295-10del
NM_000052.7(ATP7A):c.3295-14T>C
NM_000052.7(ATP7A):c.3295-16T>C
NM_000052.7(ATP7A):c.3295-5G>T rs2149107138
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=) rs2149107179
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=) rs2149107223
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=)
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val)
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys)
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile)
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=) rs2077996988
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=)
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=)
NM_000052.7(ATP7A):c.3511+8A>C rs2149107265
NM_000052.7(ATP7A):c.3511+9A>C
NM_000052.7(ATP7A):c.3511+9A>T rs2149107266
NM_000052.7(ATP7A):c.3512-14G>A
NM_000052.7(ATP7A):c.3512-16C>T
NM_000052.7(ATP7A):c.3512-6T>C rs2078029932
NM_000052.7(ATP7A):c.3512-7C>T
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser)
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
NM_000052.7(ATP7A):c.3658+17G>T
NM_000052.7(ATP7A):c.3658+19A>G
NM_000052.7(ATP7A):c.3659-7A>G
NM_000052.7(ATP7A):c.3659-9C>T
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=) rs2149110480
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=)
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=) rs2149110492
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) rs1557238272
NM_000052.7(ATP7A):c.3801+11G>A
NM_000052.7(ATP7A):c.3801+17T>C
NM_000052.7(ATP7A):c.3801+20G>A
NM_000052.7(ATP7A):c.3802-15A>G
NM_000052.7(ATP7A):c.3802-6A>G rs2149111706
NM_000052.7(ATP7A):c.3802-6A>T rs2149111706
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=) rs2149111712
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=) rs2149111740
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val)
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=) rs1043267619
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=) rs2149111751
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=)
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=)
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=)
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=) rs372489000
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=)
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=)
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=)
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=) rs2149111823
NM_000052.7(ATP7A):c.393T>A (p.Pro131=)
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=) rs369114635
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=)
NM_000052.7(ATP7A):c.39T>C (p.Ser13=) rs986987107
NM_000052.7(ATP7A):c.4005+13G>T
NM_000052.7(ATP7A):c.4005+16T>A
NM_000052.7(ATP7A):c.4005+17G>C
NM_000052.7(ATP7A):c.4006-10C>G
NM_000052.7(ATP7A):c.4006-13T>C
NM_000052.7(ATP7A):c.4006-4T>C
NM_000052.7(ATP7A):c.4006-7T>A
NM_000052.7(ATP7A):c.400G>A (p.Val134Met)
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=) rs2078061918
NM_000052.7(ATP7A):c.402G>C (p.Val134=)
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu) rs375819425
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) rs375819425
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=) rs1603391261
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=) rs2078062354
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=)
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=)
NM_000052.7(ATP7A):c.4123+12T>A
NM_000052.7(ATP7A):c.4123+17T>C
NM_000052.7(ATP7A):c.4123+17T>G
NM_000052.7(ATP7A):c.4124-13A>G
NM_000052.7(ATP7A):c.4124-16C>T
NM_000052.7(ATP7A):c.4124-17C>A
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=) rs2149113522
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala)
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=) rs2149113538
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=) rs2149113545
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)
NM_000052.7(ATP7A):c.4226+12A>G
NM_000052.7(ATP7A):c.4226+18C>A
NM_000052.7(ATP7A):c.4226+20C>T
NM_000052.7(ATP7A):c.4226+7A>G
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4227-10A>G
NM_000052.7(ATP7A):c.4227-11C>T rs2149113924
NM_000052.7(ATP7A):c.4227-12G>C
NM_000052.7(ATP7A):c.4227-16T>C
NM_000052.7(ATP7A):c.4227-17C>T
NM_000052.7(ATP7A):c.4227-18del
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=) rs2078083306
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser)
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=) rs2149113967
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) rs149079962
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=) rs2149113981
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
NM_000052.7(ATP7A):c.429T>G (p.Val143=) rs2149082691
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=) rs2149114009
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=) rs2149114035
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=) rs2149114038
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=) rs2149114044
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=) rs1603391708
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
NM_000052.7(ATP7A):c.48T>G (p.Gly16=) rs2149073819
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
NM_000052.7(ATP7A):c.528A>G (p.Lys176=) rs2149082749
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)
NM_000052.7(ATP7A):c.534A>G (p.Glu178=) rs2077652554
NM_000052.7(ATP7A):c.537G>A (p.Gly179=)
NM_000052.7(ATP7A):c.543C>T (p.Thr181=)
NM_000052.7(ATP7A):c.552A>G (p.Ser184=) rs1557231655
NM_000052.7(ATP7A):c.552A>T (p.Ser184=)
NM_000052.7(ATP7A):c.555T>C (p.Cys185=)
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
NM_000052.7(ATP7A):c.57C>T (p.Cys19=) rs145406974
NM_000052.7(ATP7A):c.597T>C (p.Val199=)
NM_000052.7(ATP7A):c.610+10C>T
NM_000052.7(ATP7A):c.610+13G>A
NM_000052.7(ATP7A):c.610+15G>T
NM_000052.7(ATP7A):c.610+18G>T
NM_000052.7(ATP7A):c.610+19A>C
NM_000052.7(ATP7A):c.610+20T>C
NM_000052.7(ATP7A):c.611-10T>C rs2149083014
NM_000052.7(ATP7A):c.611-16del
NM_000052.7(ATP7A):c.611-20T>C
NM_000052.7(ATP7A):c.611-21_611-17del rs1350377636
NM_000052.7(ATP7A):c.611-6A>G
NM_000052.7(ATP7A):c.612C>T (p.Val204=) rs2077655830
NM_000052.7(ATP7A):c.616C>T (p.Leu206=)
NM_000052.7(ATP7A):c.641T>C (p.Val214Ala)
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
NM_000052.7(ATP7A):c.69T>G (p.Val23=)
NM_000052.7(ATP7A):c.714C>A (p.Val238=) rs2149083069
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr) rs184646064
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
NM_000052.7(ATP7A):c.753T>C (p.Asp251=) rs2149083096
NM_000052.7(ATP7A):c.756A>G (p.Val252=)
NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
NM_000052.7(ATP7A):c.816A>G (p.Ser272=) rs2149083124
NM_000052.7(ATP7A):c.81G>A (p.Glu27=) rs2149073851
NM_000052.7(ATP7A):c.822C>T (p.Thr274=) rs2149083127
NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile)
NM_000052.7(ATP7A):c.828T>C (p.Asp276=) rs2077656976
NM_000052.7(ATP7A):c.831A>T (p.Ser277=) rs2149083138
NM_000052.7(ATP7A):c.837C>T (p.Ala279=)
NM_000052.7(ATP7A):c.843C>T (p.Phe281=)
NM_000052.7(ATP7A):c.849T>A (p.Ile283=)
NM_000052.7(ATP7A):c.84G>A (p.Gln28=) rs1603378828
NM_000052.7(ATP7A):c.860A>G (p.His287Arg)
NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.906C>T (p.Leu302=)
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
NM_000052.7(ATP7A):c.927A>G (p.Val309=) rs2149083187
NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
NM_000052.7(ATP7A):c.942T>C (p.Asn314=) rs2149083195
NM_000052.7(ATP7A):c.945G>A (p.Arg315=) rs2149083198
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr) rs2149083223
NM_000052.7(ATP7A):c.978C>T (p.Val326=)

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