ClinVar Miner

List of variants in gene ATP7A studied for anterior horn disorder

Included ClinVar conditions (149):
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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1474
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617 0.00356
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730 0.00280
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
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.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992 0.00060
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00048
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154 0.00039
NM_000052.7(ATP7A):c.610+19A>G rs367724628 0.00036
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666 0.00036
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569 0.00028
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.177A>G (p.Pro59=) rs142463642 0.00022
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616 0.00020
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012 0.00020
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704 0.00018
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939 0.00016
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
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.3153C>T (p.His1051=) rs142998552 0.00014
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376 0.00013
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met) rs149523862 0.00012
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115 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.2407-14G>T rs782184126 0.00009
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile) rs146392305 0.00009
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306 0.00008
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr) rs781817601 0.00008
NM_000052.7(ATP7A):c.1947-3A>G rs782237008 0.00008
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649 0.00008
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352 0.00008
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met) rs781844108 0.00007
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331 0.00007
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp) rs782415705 0.00007
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354 0.00007
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile) rs781873881 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.2892T>C (p.Phe964=) rs781832055 0.00006
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln) rs782166627 0.00006
NM_000052.7(ATP7A):c.493A>G (p.Met165Val) rs782097214 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.2241C>T (p.Asp747=) rs781928652 0.00005
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) rs782154912 0.00005
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu) rs782143115 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.2657G>A (p.Gly886Asp) rs188175511 0.00004
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537 0.00004
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=) rs1325311308 0.00004
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741 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.645T>C (p.Tyr215=) rs782587854 0.00004
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318 0.00004
NM_000052.7(ATP7A):c.765A>G (p.Leu255=) rs781957871 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.1522C>T (p.Arg508Trp) rs782603364 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.2406+15G>C rs782547388 0.00003
NM_000052.7(ATP7A):c.2406+18G>A rs1243579823 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.4369G>T (p.Val1457Phe) rs1189381967 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314 0.00003
NM_000052.7(ATP7A):c.849T>C (p.Ile283=) rs782773745 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.1172G>C (p.Cys391Ser) rs1557231883 0.00002
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr) rs1557229686 0.00002
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062 0.00002
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile) rs782058395 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.1909T>G (p.Ser637Ala) rs1308442670 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.239C>T (p.Pro80Leu) rs782602356 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.2907C>G (p.Thr969=) rs781835541 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.3294+5A>C rs370596012 0.00002
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly) rs781914030 0.00002
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val) rs374154862 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.4006-10C>T rs782741784 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.4227-1G>A rs782283173 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.705A>C (p.Pro235=) rs199608277 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.1209A>G (p.Pro403=) rs782744809 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.1224A>G (p.Ile408Met) rs373634671 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.1313T>C (p.Met438Thr) rs377651753 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.1376C>T (p.Ser459Leu) rs1557232786 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.142G>A (p.Ala48Thr) rs1557231562 0.00001
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly) rs781834607 0.00001
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val) rs781874593 0.00001
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385 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.1714G>A (p.Gly572Arg) rs1569549834 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.1850A>G (p.Asp617Gly) rs782528311 0.00001
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg) rs782396059 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.1993A>C (p.Met665Leu) rs879254156 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.2071G>A (p.Glu691Lys) rs944415019 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.2279A>G (p.Tyr760Cys) rs782006661 0.00001
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val) rs2077837721 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.2573T>G (p.Val858Gly) rs782094714 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.2687A>G (p.Gln896Arg) rs1324162252 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.2780A>G (p.Lys927Arg) rs1557235625 0.00001
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu) rs782225818 0.00001
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr) rs782807828 0.00001
NM_000052.7(ATP7A):c.2865A>G (p.Val955=) rs1557235728 0.00001
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys) rs1557235740 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.2947A>G (p.Thr983Ala) rs1023683992 0.00001
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln) rs781995242 0.00001
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 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.3416A>G (p.Asp1139Gly) rs782154314 0.00001
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg) rs782486797 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.3463G>C (p.Glu1155Gln) rs2077996609 0.00001
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456 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.3776A>T (p.Lys1259Ile) rs962646396 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.3894G>C (p.Met1298Ile) rs782499160 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.3942G>A (p.Val1314=) rs1569550333 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.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln) rs782260602 0.00001
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val) rs782161783 0.00001
NM_000052.7(ATP7A):c.4136C>T (p.Pro1379Leu) rs1557238990 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.4206T>C (p.Leu1402=) rs782505602 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.4268G>A (p.Arg1423Gln) rs368091927 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.4415G>A (p.Arg1472His) rs1204475767 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.488A>G (p.His163Arg) rs1164298315 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.548A>G (p.His183Arg) rs1186296000 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
NC_000023.10:g.(?_77227108)_(77227268_?)del
NC_000023.10:g.(?_77227108)_(77258743_?)del
NC_000023.10:g.(?_77227108)_(77305902_?)dup
NC_000023.10:g.(?_77227129)_(77302077_?)dup
NC_000023.10:g.(?_77243718)_(77245474_?)del
NC_000023.10:g.(?_77243738)_(77302067_?)dup
NC_000023.10:g.(?_77264579)_(77264780_?)dup
NC_000023.10:g.(?_77264589)_(77264770_?)dup
NC_000023.10:g.(?_77264993)_(77268389_?)del
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77266653)_(77271398_?)dup
NC_000023.10:g.(?_77266663)_(77268619_?)dup
NC_000023.10:g.(?_77270139)_(77271398_?)del
NC_000023.10:g.(?_77270149)_(77305902_?)dup
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77275721)_(77279056_?)del
NC_000023.10:g.(?_77275731)_(77302067_?)dup
NC_000023.10:g.(?_77276422)_(77276596_?)del
NC_000023.10:g.(?_77284727)_(77302087_?)dup
NC_000023.10:g.(?_77298795)_(77302067_?)dup
NC_000023.10:g.(?_77300947)_(77302067_?)del
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr)
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met) rs2149083240
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.1037G>T (p.Ser346Ile)
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg) rs2077658544
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp)
NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala) rs1557231859
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser)
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe)
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=) rs2149083275
NM_000052.7(ATP7A):c.1077del (p.Ser360fs)
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.112C>T (p.His38Tyr) rs1603378831
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser)
NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs)
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=) rs2149083320
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr)
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
NM_000052.7(ATP7A):c.1154G>A (p.Gly385Asp)
NM_000052.7(ATP7A):c.1157T>G (p.Met386Arg) rs2149083331
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.1166A>G (p.Asn389Ser)
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=) rs2149083338
NM_000052.7(ATP7A):c.1172del (p.Cys391fs)
NM_000052.7(ATP7A):c.1176G>A (p.Val392=) rs2149083343
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu)
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.1190G>C (p.Gly397Ala)
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.1207C>T (p.Pro403Ser)
NM_000052.7(ATP7A):c.120G>A (p.Lys40=)
NM_000052.7(ATP7A):c.121-12T>G
NM_000052.7(ATP7A):c.121-14T>G
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val)
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe)
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val)
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys)
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.1257_1267del (p.Glu420fs)
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
NM_000052.7(ATP7A):c.126A>G (p.Ser42=) rs2149082519
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer) rs2077660153
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs)
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg)
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln)
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=) rs2149083467
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu) rs2149083480
NM_000052.7(ATP7A):c.1336+10A>G
NM_000052.7(ATP7A):c.1336+3A>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.1348C>T (p.Pro450Ser)
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=) rs782421584
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu) rs1603381269
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=) rs2077718812
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser)
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His)
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly) rs1377636628
NM_000052.7(ATP7A):c.140dup (p.Asn47fs)
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala) rs2149087825
NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs)
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=) rs2149087828
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs)
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs)
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=) rs2077719509
NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs)
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly)
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=) rs2149087866
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs)
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg) rs2077719880
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.1498G>A (p.Ala500Thr) rs2149087885
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr)
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.1523G>A (p.Arg508Gln)
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=) rs1557232820
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1537dup (p.Glu513fs)
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys)
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.1544-1G>C rs797045331
NM_000052.7(ATP7A):c.1544-2A>T rs2077751404
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.1592G>T (p.Arg531Met) rs782048861
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs)
NM_000052.7(ATP7A):c.159C>T (p.Asp53=) rs2149082542
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
NM_000052.7(ATP7A):c.1605del (p.Val536fs)
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu)
NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs)
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met)
NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs)
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val) rs1557233382
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val)
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile)
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg)
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn)
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=) rs2149090265
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr)
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs) rs2149090269
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
NM_000052.7(ATP7A):c.166C>T (p.Leu56=) rs2149082544
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala)
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr) rs1603383823
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys)
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln) rs2077752247
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp)
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg)
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val) rs782561107
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser)
NM_000052.7(ATP7A):c.1695T>C (p.Val565=) rs2149090293
NM_000052.7(ATP7A):c.1697del (p.Leu566fs)
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=) rs2149090295
NM_000052.7(ATP7A):c.1707+12T>G
NM_000052.7(ATP7A):c.1707+16del
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.1708-19A>G
NM_000052.7(ATP7A):c.1708-5A>C rs782104249
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu)
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe) rs2149093499
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=) rs2149093501
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile) rs372116692
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly) rs2077799245
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile)
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) rs1603384813
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=) rs2149093521
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val) rs2149093524
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=) rs1557234093
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His)
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.1793C>T (p.Ala598Val) rs782386693
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val) rs2149093539
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp) rs2077547692
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser)
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys)
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg)
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr) rs2149093552
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)
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.1864A>G (p.Ile622Val) rs1399879043
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln)
NM_000052.7(ATP7A):c.1869+12G>T
NM_000052.7(ATP7A):c.1869+17del
NM_000052.7(ATP7A):c.1869+4A>G
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.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1870-7T>G
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=) rs2149094927
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs)
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) rs876661241
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile)
NM_000052.7(ATP7A):c.1896C>G (p.Val632=) rs2149094955
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu) rs2149094957
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu)
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
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.1916G>A (p.Ser639Asn)
NM_000052.7(ATP7A):c.1920C>T (p.His640=) rs2149094980
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn)
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)
NM_000052.7(ATP7A):c.1924del (p.Asp642fs)
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.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala) rs2077822914
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
NM_000052.7(ATP7A):c.1945_1946+2dup rs2077822992
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.1966G>C (p.Val656Leu)
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val)
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser)
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr)
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe)
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu)
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>A (p.Met671Ile)
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr)
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle) rs1569549885
NM_000052.7(ATP7A):c.2028C>T (p.His676=) rs2149095212
NM_000052.7(ATP7A):c.2030A>G (p.His677Arg)
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys)
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=) rs2077825942
NM_000052.7(ATP7A):c.2045_2046del (p.His682fs)
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
NM_000052.7(ATP7A):c.2051del (p.Asn684fs)
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu)
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=) rs2149095237
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del)
NM_000052.7(ATP7A):c.2086_2087del (p.His696fs)
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys)
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe) rs2077826335
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=) rs2077826356
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys) rs2149095258
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His)
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His)
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.2149T>C (p.Phe717Leu) rs1557234537
NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr) rs2077650482
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly) rs1569549892
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=) rs797045346
NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs)
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu)
NM_000052.7(ATP7A):c.2172+12G>C rs1557234548
NM_000052.7(ATP7A):c.2172+13T>C
NM_000052.7(ATP7A):c.2172+2C>T rs2077827112
NM_000052.7(ATP7A):c.2172+5G>A rs797045347
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2172+8A>C rs2149095311
NM_000052.7(ATP7A):c.2172+8_2172+12dup rs782170618
NM_000052.7(ATP7A):c.2173-15A>G
NM_000052.7(ATP7A):c.2173-15A>T
NM_000052.7(ATP7A):c.2173-4G>T
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu)
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu) rs2149095964
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg) rs2077837052
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter) rs2149095968
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.2202G>C (p.Gln734His) rs2149095977
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe) rs1569549929
NM_000052.7(ATP7A):c.2207del (p.Tyr736fs)
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg) rs2077837209
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr)
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.2261_2262del (p.Thr754fs)
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.2305A>G (p.Met769Val)
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.2334dup (p.Thr779fs)
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu) rs2077838145
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly)
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.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=) rs2149096056
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=) rs2149096057
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu) rs781834675
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly)
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met) rs2077838404
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=) rs1208805004
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=) rs1603385697
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu)
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.2406+20C>T
NM_000052.7(ATP7A):c.2406+6G>A rs782307719
NM_000052.7(ATP7A):c.2407-10del
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.2407G>A (p.Gly803Ser)
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser)
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu)
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr)
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=) rs782694822
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val) rs781879594
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.2456A>G (p.Glu819Gly)
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
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.2465T>C (p.Ile822Thr) rs782768766
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser)
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe)
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.2498+2T>G rs797045357
NM_000052.7(ATP7A):c.2498+3A>T rs1603386005
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.2499-3C>T rs2077858280
NM_000052.7(ATP7A):c.2499-7T>A
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) rs1603386154
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser)
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe)
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.256_262del (p.Asp86fs)
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly) rs2077859082
NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly) rs2149082599
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.2588T>C (p.Ile863Thr)
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr) rs2149097408
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.2624C>G (p.Thr875Arg)
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+5G>T rs2149097418
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.2635A>T (p.Met879Leu)
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His)
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=) rs781976106
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=) rs2149099638
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro)
NM_000052.7(ATP7A):c.2663del (p.Thr888fs) rs2077896094
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala)
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.2747T>C (p.Ile916Thr)
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys)
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln) rs2149099719
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly)
NM_000052.7(ATP7A):c.2773_2781+4del
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+5C>T
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.2782-17_2782-15del
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.2788A>G (p.Ile930Val)
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=) rs2149100114
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met)
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly)
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=) rs2149100126
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys)
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser)
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile) rs2077902319
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe)
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr) rs1557235719
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn)
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+11T>G
NM_000052.7(ATP7A):c.2916+19C>T
NM_000052.7(ATP7A):c.2916+3A>T rs2149100212
NM_000052.7(ATP7A):c.2916+3_2916+6del rs797045364
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.2918G>T (p.Gly973Val)
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=) rs1557236690
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys)
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=) rs72554649
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly)
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)
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.2953del (p.Ile985fs)
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=) rs2077967350
NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp) rs1557236729
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly) rs2077967548
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro)
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.3013G>T (p.Gly1005Ter)
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
NM_000052.7(ATP7A):c.3028A>T (p.Thr1010Ser) rs782480109
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) rs1557236745
NM_000052.7(ATP7A):c.302A>G (p.Asp101Gly)
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=) rs2149104907
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) rs1557236747
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
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.3055G>A (p.Gly1019Ser) rs2077968146
NM_000052.7(ATP7A):c.305A>G (p.His102Arg) rs1253495703
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.3081del (p.Gly1028fs)
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile)
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+6A>G rs2077968712
NM_000052.7(ATP7A):c.3111+7C>T
NM_000052.7(ATP7A):c.3111+8A>G
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
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.3112-5dup rs1569550186
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile)
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala) rs2077983152
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.3153C>A (p.His1051Gln) rs142998552
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala)
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.3179A>G (p.Lys1060Arg) rs2077983527
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val)
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.319_320insACTGTCTCTTA (p.Leu107fs)
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser) rs2149106147
NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs)
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.3245G>A (p.Ser1082Asn) rs1603389390
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp)
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) rs1603389393
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.3256C>T (p.His1086Tyr)
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile) rs2149106178
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr)
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile) rs996808810
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile)
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly)
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg)
NM_000052.7(ATP7A):c.3294+12dup rs1223290704
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+1G>A rs797045374
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.3302A>G (p.Asp1101Gly)
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr) rs2149107157
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu)
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu)
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser) rs2149107164
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser)
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=) rs2149107179
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile)
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe) rs2077995918
NM_000052.7(ATP7A):c.338_339del (p.Val113fs)
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr) rs2077996076
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
NM_000052.7(ATP7A):c.3415G>A (p.Asp1139Asn) rs2149107203
NM_000052.7(ATP7A):c.3421A>C (p.Asn1141His) rs2149107206
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val)
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr)
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu)
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=) rs2149107223
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
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.348del (p.Ile118fs)
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr)
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu)
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=) rs2077996988
NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs)
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)
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.3514G>A (p.Ala1172Thr)
NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs)
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe)
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro)
NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs)
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del)
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) rs2078030304
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu)
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val)
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr) rs782588862
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter) rs2149109587
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.3602A>T (p.Asp1201Val)
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val)
NM_000052.7(ATP7A):c.3605T>C (p.Phe1202Ser) rs2078030949
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs)
NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs)
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu)
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala)
NM_000052.7(ATP7A):c.3658+17G>T
NM_000052.7(ATP7A):c.3658+19A>G
NM_000052.7(ATP7A):c.3658+4A>T
NM_000052.7(ATP7A):c.3659-1G>A rs2149110457
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.3667_3669delinsA (p.Cys1223fs)
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr)
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly)
NM_000052.7(ATP7A):c.3692del (p.Thr1231fs)
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=) rs2149110480
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys) rs2149110482
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly)
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val)
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) rs1603390828
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr)
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu)
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.3761C>A (p.Thr1254Asn)
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile)
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser) rs2078041778
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) rs1557238272
NM_000052.7(ATP7A):c.3788C>A (p.Ser1263Tyr)
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr) rs2078042001
NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs)
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
NM_000052.7(ATP7A):c.3801+11G>A
NM_000052.7(ATP7A):c.3801+13G>T
NM_000052.7(ATP7A):c.3801+17T>C
NM_000052.7(ATP7A):c.3801+20G>A
NM_000052.7(ATP7A):c.3802-12T>C
NM_000052.7(ATP7A):c.3802-15A>G
NM_000052.7(ATP7A):c.3802-1G>A rs398123135
NM_000052.7(ATP7A):c.3802-6A>G rs2149111706
NM_000052.7(ATP7A):c.3802-6A>T rs2149111706
NM_000052.7(ATP7A):c.380_381del (p.Val127fs)
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=) rs2149111712
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile) rs932523090
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=) rs2149111740
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=)
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)
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.3868C>T (p.Gln1290Ter) rs1603391120
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) rs999014839
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
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.3894G>T (p.Met1298Ile)
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser)
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.3947T>G (p.Ile1316Ser)
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val)
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu)
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=) rs369114635
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) rs782692001
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly)
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+12G>A
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.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4005+5G>A
NM_000052.7(ATP7A):c.4006-10C>G
NM_000052.7(ATP7A):c.4006-13T>C
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
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.400G>T (p.Val134Leu) rs371441365
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=) rs2078061918
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile)
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala) rs2149112223
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs) rs2078061940
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.4040T>A (p.Leu1347Ter)
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr) rs2149112238
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn)
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp)
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys) rs2078062220
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=) rs1603391261
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser) 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.4089A>G (p.Leu1363=)
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe)
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser) rs2149082684
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.4124-3T>C
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser)
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=) rs2149113522
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly)
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile) rs2149113528
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.4205T>G (p.Leu1402Arg)
NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs)
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala) rs2149113564
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val)
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg)
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile) rs2149113574
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+6T>G
NM_000052.7(ATP7A):c.4226+7A>G
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro)
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.422_423del (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys)
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly) rs2149113944
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys)
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=) rs2078083306
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)
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>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly) rs149079962
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) rs149079962
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly) rs2149113979
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=) rs2149113981
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg)
NM_000052.7(ATP7A):c.4288A>G (p.Ser1430Gly) rs2149113992
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn)
NM_000052.7(ATP7A):c.429T>G (p.Val143=) rs2149082691
NM_000052.7(ATP7A):c.4300A>C (p.Ile1434Leu) rs2149113995
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=) rs2149114009
NM_000052.7(ATP7A):c.4316G>C (p.Gly1439Ala)
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr)
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg)
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr)
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.4356G>T (p.Leu1452Phe)
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu) rs147848649
NM_000052.7(ATP7A):c.437del (p.Leu146fs) rs2149082699
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn)
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn)
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.7(ATP7A):c.4447G>T (p.Asp1483Tyr) rs2149114118
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala)
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=) rs1603391708
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu) rs2149114133
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys)
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn)
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
NM_000052.7(ATP7A):c.453del (p.Thr152fs) rs1603381331
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp)
NM_000052.7(ATP7A):c.462dup (p.Lys155fs) rs2077652014
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met) rs2149082707
NM_000052.7(ATP7A):c.469_470del (p.Ser157fs)
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys)
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr)
NM_000052.7(ATP7A):c.48T>G (p.Gly16=) rs2149073819
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys)
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)
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.556A>G (p.Thr186Ala) rs1557231656
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
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.598C>G (p.Gln200Glu)
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln) rs897502448
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.610+2T>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.611-5A>G rs1557231730
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.617T>G (p.Leu206Arg) rs2149083027
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro)
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr) rs2149083046
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr) rs2077548143
NM_000052.7(ATP7A):c.674T>A (p.Met225Lys)
NM_000052.7(ATP7A):c.675G>A (p.Met225Ile)
NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
NM_000052.7(ATP7A):c.67G>A (p.Val23Ile)
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr) rs1557231750
NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp)
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr) rs2149083058
NM_000052.7(ATP7A):c.69T>G (p.Val23=)
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu)
NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs)
NM_000052.7(ATP7A):c.714C>A (p.Val238=) rs2149083069
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
NM_000052.7(ATP7A):c.722A>G (p.Gln241Arg) rs2077656389
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg)
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr) rs184646064
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser)
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
NM_000052.7(ATP7A):c.753T>C (p.Asp251=) rs2149083096
NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs)
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile)
NM_000052.7(ATP7A):c.756A>G (p.Val252=)
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr) rs2077656822
NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg)
NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter) rs2149083118
NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser) rs868946047
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.833C>G (p.Thr278Arg)
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp)
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.868T>C (p.Ser290Pro)
NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro)
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
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.90T>G (p.Ile30Met) rs2149073867
NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly)
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
NM_000052.7(ATP7A):c.927A>G (p.Val309=) rs2149083187
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser) rs1064797375
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.945G>T (p.Arg315Ser) rs2149083198
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln) rs2077548318
NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu)
NM_000052.7(ATP7A):c.964A>G (p.Asn322Asp)
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr) rs2149083223
NM_000052.7(ATP7A):c.973_974del (p.Val326fs)
NM_000052.7(ATP7A):c.978C>T (p.Val326=)
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu) rs2077548355

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