ClinVar Miner

List of variants studied for Menkes disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1888
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000052.7(ATP7A):c.-21-2239C>T rs62621209 0.04091
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00980
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 0.00473
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.4390A>G (p.Ile1464Val) rs2234938 0.00098
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.1009G>A (p.Ala337Thr) rs138039591 0.00069
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 0.00051
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00048
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666 0.00046
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154 0.00044
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448 0.00037
NM_000052.7(ATP7A):c.610+19A>G rs367724628 0.00033
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569 0.00028
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00026
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186 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.1737A>G (p.Val579=) rs189353691 0.00018
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012 0.00018
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115 0.00017
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939 0.00016
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704 0.00015
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00014
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.3479C>T (p.Ser1160Leu) rs149576827 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.278C>T (p.Thr93Met) rs539177302 0.00012
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.3659-12C>T rs1012193744 0.00009
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr) rs781817601 0.00008
NM_000052.7(ATP7A):c.2407-14G>T rs782184126 0.00008
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 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.1020G>A (p.Pro340=) rs372232940 0.00007
NM_000052.7(ATP7A):c.1947-3A>G rs782237008 0.00007
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp) rs782415705 0.00007
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn) rs782363166 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.207G>A (p.Met69Ile) rs782290331 0.00006
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537 0.00006
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln) rs782166627 0.00006
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596 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.1734C>T (p.Cys578=) rs72554638 0.00005
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu) rs782566688 0.00005
NM_000052.7(ATP7A):c.2172+7G>T rs782433802 0.00005
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652 0.00005
NM_000052.7(ATP7A):c.2782-11T>C rs1168369861 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.3475A>G (p.Thr1159Ala) rs138154934 0.00005
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596 0.00005
NM_000052.7(ATP7A):c.4123+17T>G rs375335733 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.673A>G (p.Met225Val) rs782619990 0.00005
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val) rs1189996419 0.00005
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser) rs368147403 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.1377G>A (p.Ser459=) rs377355446 0.00004
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile) rs372116692 0.00004
NM_000052.7(ATP7A):c.19G>A (p.Val7Met) rs1231396067 0.00004
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln) rs72554641 0.00004
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys) rs782625441 0.00004
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.2626+12C>G rs781862130 0.00004
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp) rs188175511 0.00004
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=) rs1325311308 0.00004
NM_000052.7(ATP7A):c.3801+20G>A rs1186419283 0.00004
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705 0.00004
NM_000052.7(ATP7A):c.4005+19C>A rs1231604254 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.1030A>G (p.Arg344Gly) rs782196306 0.00003
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser) rs372780635 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.15G>A (p.Met5Ile) rs781952393 0.00003
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val) rs782444523 0.00003
NM_000052.7(ATP7A):c.1870-12G>T rs1203434891 0.00003
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=) rs782315947 0.00003
NM_000052.7(ATP7A):c.1947-16A>C rs374227722 0.00003
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile) rs782104015 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.2619C>T (p.Leu873=) rs1307515001 0.00003
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866 0.00003
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064 0.00003
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val) rs781866452 0.00003
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741 0.00003
NM_000052.7(ATP7A):c.3801+13G>T rs1446081991 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.4227-12del rs1557239080 0.00003
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu) rs782416661 0.00003
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924 0.00003
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=) rs146052682 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.475G>A (p.Ala159Thr) rs188836609 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.1172G>C (p.Cys391Ser) rs1557231883 0.00002
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr) rs1557229686 0.00002
NM_000052.7(ATP7A):c.120G>A (p.Lys40=) rs1400740365 0.00002
NM_000052.7(ATP7A):c.1337-16T>A rs1199992144 0.00002
NM_000052.7(ATP7A):c.1337-5A>G rs371146030 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.1486G>A (p.Gly496Ser) rs1249256780 0.00002
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg) rs782589583 0.00002
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp) rs782603364 0.00002
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr) rs2077752124 0.00002
NM_000052.7(ATP7A):c.1708-16G>A rs1432524313 0.00002
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=) rs375479026 0.00002
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=) rs184136556 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.1870-18T>C rs1557234393 0.00002
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala) rs1308442670 0.00002
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997 0.00002
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met) rs781844108 0.00002
NM_000052.7(ATP7A):c.1947-15T>C rs2077824731 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.2052T>G (p.Asn684Lys) rs781837620 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.2112G>C (p.Gln704His) rs1471996737 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.220G>C (p.Val74Leu) rs782051101 0.00002
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr) rs782389012 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met) rs1384495572 0.00002
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=) rs1473914623 0.00002
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp) rs1443260520 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.2406+16G>T rs1290671325 0.00002
NM_000052.7(ATP7A):c.2406+20C>T rs111558818 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.260C>T (p.Thr87Ile) rs782769542 0.00002
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) rs782154912 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.2948C>T (p.Thr983Met) rs782094358 0.00002
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg) rs781968399 0.00002
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu) rs782482837 0.00002
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620 0.00002
NM_000052.7(ATP7A):c.3294+5A>C rs370596012 0.00002
NM_000052.7(ATP7A):c.3295-16T>C rs1455226340 0.00002
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr) rs928516350 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.3518T>C (p.Leu1173Pro) rs1267460544 0.00002
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) rs1179465472 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.3631C>T (p.Arg1211Trp) rs782786661 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.4241C>T (p.Thr1414Ile) rs782198884 0.00002
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811 0.00002
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=) rs2078083306 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.4440T>C (p.Ser1480=) rs1356216590 0.00002
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) rs781838499 0.00002
NM_000052.7(ATP7A):c.657T>G (p.Leu219=) rs782516101 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.761G>A (p.Arg254His) rs782363269 0.00002
NM_000052.7(ATP7A):c.765A>G (p.Leu255=) rs781957871 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>A (p.Gly341=) rs374656309 0.00001
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.1108G>A (p.Val370Ile) rs782557016 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.1154G>A (p.Gly385Asp) rs1557231879 0.00001
NM_000052.7(ATP7A):c.120+15G>A rs376662883 0.00001
NM_000052.7(ATP7A):c.120+20C>T rs1557229693 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.1226G>A (p.Arg409Gln) rs201763950 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.125C>T (p.Ser42Leu) rs149229909 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.1303A>G (p.Ile435Val) rs1557231929 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.1337-17C>G rs928403849 0.00001
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=) rs782292643 0.00001
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu) rs1313711010 0.00001
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His) rs147478494 0.00001
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=) rs2077718812 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.1400C>G (p.Thr467Ser) rs782012781 0.00001
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr) rs1557231562 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.1534C>T (p.Arg512Trp) rs1030215501 0.00001
NM_000052.7(ATP7A):c.1543+15A>G rs782368475 0.00001
NM_000052.7(ATP7A):c.1544-16T>G rs782084991 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.1592G>A (p.Arg531Lys) rs782048861 0.00001
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455 0.00001
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=) rs1056057247 0.00001
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala) rs896151271 0.00001
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) rs782491733 0.00001
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln) rs782618624 0.00001
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp) rs2077752277 0.00001
NM_000052.7(ATP7A):c.168A>G (p.Leu56=) rs782612734 0.00001
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser) rs782205068 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.182C>T (p.Thr61Ile) rs1293902838 0.00001
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val) rs1318638094 0.00001
NM_000052.7(ATP7A):c.1870-14A>G rs782247390 0.00001
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg) rs782396059 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.1947-17T>A rs782472435 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.2001G>A (p.Leu667=) rs2077825500 0.00001
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile) rs371215281 0.00001
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) rs782629836 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.2063G>A (p.Ser688Asn) rs1367140209 0.00001
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019 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.2158T>G (p.Cys720Gly) rs1569549892 0.00001
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=) rs797045346 0.00001
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu) rs1557234543 0.00001
NM_000052.7(ATP7A):c.2172+13T>C rs782730248 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.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.2277C>T (p.Ala759=) rs1473914623 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.2340C>T (p.Phe780=) rs2077838145 0.00001
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) rs1557234754 0.00001
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val) rs782509229 0.00001
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val) rs782770209 0.00001
NM_000052.7(ATP7A):c.238C>T (p.Pro80Ser) rs781951786 0.00001
NM_000052.7(ATP7A):c.2406+14G>A rs1281667159 0.00001
NM_000052.7(ATP7A):c.2406+6G>A rs782307719 0.00001
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=) rs1320378426 0.00001
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val) rs1557234931 0.00001
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=) rs782694822 0.00001
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val) rs781879594 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.2588T>C (p.Ile863Thr) rs2077859225 0.00001
NM_000052.7(ATP7A):c.2626+13A>G rs1347018211 0.00001
NM_000052.7(ATP7A):c.2627-13A>T rs2077895683 0.00001
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val) rs782430502 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.2710G>A (p.Ala904Thr) rs1427317043 0.00001
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=) rs1396353749 0.00001
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr) rs781842416 0.00001
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly) rs2077896880 0.00001
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile) rs369335432 0.00001
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg) rs1557235625 0.00001
NM_000052.7(ATP7A):c.2782-14A>G rs1557235696 0.00001
NM_000052.7(ATP7A):c.2782-14del rs1398375787 0.00001
NM_000052.7(ATP7A):c.2782-6T>C rs781957929 0.00001
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu) rs782225818 0.00001
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly) rs868944171 0.00001
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys) rs1557235711 0.00001
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val) rs1557231591 0.00001
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu) rs782143115 0.00001
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr) rs782807828 0.00001
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr) rs1021686980 0.00001
NM_000052.7(ATP7A):c.2865A>G (p.Val955=) rs1557235728 0.00001
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp) rs782724900 0.00001
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=) rs781832055 0.00001
NM_000052.7(ATP7A):c.2917-15G>T rs2077966528 0.00001
NM_000052.7(ATP7A):c.2917-6C>T rs1557236688 0.00001
NM_000052.7(ATP7A):c.2917-9C>T rs188421674 0.00001
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698 0.00001
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn) rs376895016 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.2967C>T (p.Phe989=) rs2077967350 0.00001
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=) rs2522392491 0.00001
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109 0.00001
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile) rs782746249 0.00001
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=) rs781855802 0.00001
NM_000052.7(ATP7A):c.305A>G (p.His102Arg) rs1253495703 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.3198C>T (p.Asn1066=) rs2077983590 0.00001
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=) rs1557237065 0.00001
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val) rs782463394 0.00001
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val) rs782513950 0.00001
NM_000052.7(ATP7A):c.3294+10T>A rs2077984363 0.00001
NM_000052.7(ATP7A):c.3294+7T>G rs782600025 0.00001
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser) rs782066060 0.00001
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006 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.3423T>A (p.Asn1141Lys) rs1557237441 0.00001
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val) rs1831643767 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.346A>G (p.Ile116Val) rs1557231611 0.00001
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=) rs1460548428 0.00001
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val) rs1557237458 0.00001
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys) rs1557237460 0.00001
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly) rs782231801 0.00001
NM_000052.7(ATP7A):c.3512-14G>A rs1557237991 0.00001
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu) rs1250288679 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.3605T>C (p.Phe1202Ser) rs2078030949 0.00001
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=) rs782173299 0.00001
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala) rs868913949 0.00001
NM_000052.7(ATP7A):c.3658+13A>G rs797045381 0.00001
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser) rs1354455601 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.3788C>G (p.Ser1263Cys) rs372066609 0.00001
NM_000052.7(ATP7A):c.379G>A (p.Val127Met) rs1557231620 0.00001
NM_000052.7(ATP7A):c.3802-12T>C rs782334214 0.00001
NM_000052.7(ATP7A):c.3802-9A>G rs1557238565 0.00001
NM_000052.7(ATP7A):c.3811A>G (p.Thr1271Ala) rs2078057282 0.00001
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=) rs369940614 0.00001
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=) rs895520660 0.00001
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=) rs1193220421 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.3952A>G (p.Ile1318Val) rs2149111836 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.4005+12G>A rs782331329 0.00001
NM_000052.7(ATP7A):c.4006-10C>T rs782741784 0.00001
NM_000052.7(ATP7A):c.4006-11T>A rs1325784914 0.00001
NM_000052.7(ATP7A):c.400G>A (p.Val134Met) rs371441365 0.00001
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=) rs1557238672 0.00001
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile) rs2522420921 0.00001
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=) rs1603391261 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.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.4213C>T (p.Leu1405Phe) rs2078077967 0.00001
NM_000052.7(ATP7A):c.4227-12G>C rs2522427132 0.00001
NM_000052.7(ATP7A):c.4227-1G>A rs782283173 0.00001
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro) rs144966822 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.4277T>C (p.Ile1426Thr) rs782077921 0.00001
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg) rs2078083449 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.4316G>C (p.Gly1439Ala) rs2522427557 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.444A>G (p.Leu148=) rs2077651959 0.00001
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=) rs1283793761 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.479G>C (p.Cys160Ser) rs782116062 0.00001
NM_000052.7(ATP7A):c.488A>G (p.His163Arg) rs1164298315 0.00001
NM_000052.7(ATP7A):c.493A>G (p.Met165Val) rs782097214 0.00001
NM_000052.7(ATP7A):c.498T>C (p.Ala166=) rs782701351 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.56G>A (p.Cys19Tyr) rs782127182 0.00001
NM_000052.7(ATP7A):c.579T>A (p.Ile193=) rs2077652795 0.00001
NM_000052.7(ATP7A):c.588G>A (p.Leu196=) rs782253237 0.00001
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser) rs1557231670 0.00001
NM_000052.7(ATP7A):c.610+20T>C rs782439028 0.00001
NM_000052.7(ATP7A):c.611-20T>C rs782501595 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.656T>G (p.Leu219Arg) rs782206307 0.00001
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr) rs1557231750 0.00001
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr) rs184646064 0.00001
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys) rs374855698 0.00001
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr) rs2077656822 0.00001
NM_000052.7(ATP7A):c.807G>A (p.Arg269=) rs868946047 0.00001
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu) rs1039952708 0.00001
NM_000052.7(ATP7A):c.849T>C (p.Ile283=) rs782773745 0.00001
NM_000052.7(ATP7A):c.84G>A (p.Gln28=) rs1603378828 0.00001
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg) rs782449900 0.00001
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg) rs782355906 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.964A>G (p.Asn322Asp) rs1413043733 0.00001
GRCh37/hg19 Xq21.1(chrX:77238734-77312616)
GRCh37/hg19 Xq21.1(chrX:77244108-77244998)
NC_000023.10:g.(77284942_77286897)_(77289271_77294333)del
NC_000023.10:g.(?_76829695)_(77381327_?)dup
NC_000023.10:g.(?_76888675)_(77264780_?)dup
NC_000023.10:g.(?_76972588)_(77302067_?)del
NC_000023.10:g.(?_77150786)_(77289339_?)dup
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.(?_77227139)_(77271398_?)del
NC_000023.10:g.(?_77227139)_(77275915_?)dup
NC_000023.10:g.(?_77227139)_(77284961_?)dup
NC_000023.10:g.(?_77227139)_(77289339_?)del
NC_000023.10:g.(?_77227139)_(77381327_?)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.(?_77264579)_(77268629_?)del
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.(?_77266653)_(77302067_?)dup
NC_000023.10:g.(?_77266663)_(77268619_?)dup
NC_000023.10:g.(?_77268356)_(77271398_?)del
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.(?_77275721)_(77381327_?)dup
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.(?_77289083)_(77301089_?)dup
NC_000023.10:g.(?_77298795)_(77302067_?)dup
NC_000023.10:g.(?_77300947)_(77302067_?)del
NC_000023.10:g.(?_77300947)_(77381327_?)dup
NG_013224.2:g.(66066_82545)_(84263_92781)del
NG_013224.2:g.(?_4960)_(103567_105489)dup
NM_000052.6(ATP7A):c.3152_3156delACGGAins4
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val) rs1557231840
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr) rs1464678343
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met) rs2149083240
NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter) rs797045325
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=) rs2522294268
NM_000052.7(ATP7A):c.1016C>A (p.Ser339Ter) rs2522294291
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=) rs2522294299
NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs) rs797045327
NM_000052.7(ATP7A):c.1028dup (p.Tyr343Ter) rs2522294383
NM_000052.7(ATP7A):c.1029T>C (p.Tyr343=)
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=) rs2077658462
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile) rs2522294418
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg) rs2077658544
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=) rs2522294464
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp) rs2522294474
NM_000052.7(ATP7A):c.1056G>C (p.Glu352Asp) rs2522294486
NM_000052.7(ATP7A):c.105T>C (p.Gly35=) rs2522252472
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala) rs1557231859
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser) rs1557231859
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=) rs2522294507
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro) rs782465028
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe) rs2522294528
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=) rs2149083275
NM_000052.7(ATP7A):c.1077del (p.Ser360fs) rs2522294546
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=) rs1297787143
NM_000052.7(ATP7A):c.1085C>A (p.Ser362Tyr)
NM_000052.7(ATP7A):c.108G>A (p.Val36=) rs2149073882
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=) rs2522294724
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr) rs1603378831
NM_000052.7(ATP7A):c.1135del (p.Thr379fs) rs2522294729
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser) rs1603381546
NM_000052.7(ATP7A):c.1139_1140del (p.Val380fs) rs2522294763
NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs) rs2522294774
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=) rs2149083320
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val) rs1557231872
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr) rs2522294811
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly) rs782029320
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) rs2522294879
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=) rs2149083338
NM_000052.7(ATP7A):c.1172del (p.Cys391fs) rs2522294894
NM_000052.7(ATP7A):c.1174_1180del (p.Val392fs)
NM_000052.7(ATP7A):c.1176G>A (p.Val392=) rs2149083343
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu) rs2522294916
NM_000052.7(ATP7A):c.117T>A (p.Ile39=) rs2077548496
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=) rs2149083355
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val) rs1557231890
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr) rs1557231893
NM_000052.7(ATP7A):c.1189_1192del (p.Gly397fs) rs2522294939
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala) rs1557231895
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=) rs2149083372
NM_000052.7(ATP7A):c.120+14T>C rs2077548761
NM_000052.7(ATP7A):c.120+7T>C rs2149073895
NM_000052.7(ATP7A):c.120+8A>T rs2522252572
NM_000052.7(ATP7A):c.120+9C>T
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=) rs2522294997
NM_000052.7(ATP7A):c.1202A>G (p.Lys401Arg)
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser) rs2522295027
NM_000052.7(ATP7A):c.121-12T>G rs1557231556
NM_000052.7(ATP7A):c.121-14T>G rs2522288601
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val) rs782000271
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe) rs2522295083
NM_000052.7(ATP7A):c.1221C>T (p.Ser407=)
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1234del (p.Ala413fs) rs2522295160
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val) rs2077659809
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys) rs2522295187
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1253C>T (p.Thr418Ile)
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala) rs782283944
NM_000052.7(ATP7A):c.1257T>G (p.Val419=) rs2522295269
NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs) rs2522295279
NM_000052.7(ATP7A):c.1266T>A (p.Asp422Glu)
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=) rs2522288656
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter) rs2522295388
NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs) rs2522295420
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg) rs2522295430
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=) rs782148279
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln) rs782717793
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=) rs2149083467
NM_000052.7(ATP7A):c.1329del (p.Leu444fs) rs2149083474
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu) rs2149083480
NM_000052.7(ATP7A):c.1336+10A>C
NM_000052.7(ATP7A):c.1336+10A>G rs2522295559
NM_000052.7(ATP7A):c.1336+3A>G rs2522295527
NM_000052.7(ATP7A):c.1336+7dup rs2493468522
NM_000052.7(ATP7A):c.1336+9C>A rs2522295551
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met) rs1557232773
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=) rs2149087769
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser) rs2522314127
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=) rs782421584
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=) rs782421584
NM_000052.7(ATP7A):c.1355del (p.Val452fs) rs797045329
NM_000052.7(ATP7A):c.1358_1363del (p.Val453_Ile454del)
NM_000052.7(ATP7A):c.1361T>G (p.Ile454Arg)
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val) rs1557232782
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu) rs1603381269
NM_000052.7(ATP7A):c.1376C>A (p.Ser459Ter)
NM_000052.7(ATP7A):c.1395T>A (p.Thr465=)
NM_000052.7(ATP7A):c.1400C>A (p.Thr467Asn)
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile) rs782012781
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His) rs2522314358
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly) rs1377636628
NM_000052.7(ATP7A):c.140dup (p.Asn47fs) rs2149082525
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala) rs2149087825
NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs) rs2522314407
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=) rs2149087828
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=) rs2522314416
NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs) rs2522314422
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=) rs2149087834
NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs) rs2522314447
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=) rs2077719509
NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs) rs2522314496
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly) rs2522288721
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=) rs2522314523
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly) rs781834607
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter) rs797045330
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=) rs2149087866
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe) rs192424860
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=) rs1557232805
NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs) rs2522314565
NM_000052.7(ATP7A):c.1471_1473delinsATGTAA (p.Tyr491delinsMetTer)
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=) rs2522314582
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg) rs2077719880
NM_000052.7(ATP7A):c.147T>C (p.Thr49=) rs2522288743
NM_000052.7(ATP7A):c.1483A>G (p.Thr495Ala) rs2149087878
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser) rs1557232810
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr) rs2149087885
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr) rs2077547648
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=) rs2522314701
NM_000052.7(ATP7A):c.1500T>G (p.Ala500=)
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) rs2522314763
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=) rs2522314769
NM_000052.7(ATP7A):c.152T>C (p.Ile51Thr)
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) rs2522314785
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys) rs2522314807
NM_000052.7(ATP7A):c.1540G>T (p.Glu514Ter)
NM_000052.7(ATP7A):c.1543+17G>A rs2149087916
NM_000052.7(ATP7A):c.1543+18C>T rs2077720320
NM_000052.7(ATP7A):c.1543+8A>C rs2522314829
NM_000052.7(ATP7A):c.1544-1G>A 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) rs1234971496
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313
NM_000052.7(ATP7A):c.1562T>C (p.Val521Ala)
NM_000052.7(ATP7A):c.1562T>G (p.Val521Gly)
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=) rs2149090230
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=) rs2522288765
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=) rs2149090234
NM_000052.7(ATP7A):c.1585G>A (p.Glu529Lys)
NM_000052.7(ATP7A):c.1585G>T (p.Glu529Ter) rs72554637
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met) rs782048861
NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs) rs2522325486
NM_000052.7(ATP7A):c.159C>T (p.Asp53=) rs2149082542
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=) rs1056057247
NM_000052.7(ATP7A):c.1605del (p.Val536fs) rs2522325537
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu) rs2522325542
NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs) rs2522325555
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr) rs782724203
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met) rs2522325581
NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs) rs2522325590
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val) rs1557233382
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=) rs2522325652
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=) rs2522325676
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val) rs2522325710
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile) rs2522288810
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg) rs2522325720
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=) rs2522325726
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn) rs2522288819
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=) rs2149090265
NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs) rs797045333
NM_000052.7(ATP7A):c.166C>T (p.Leu56=) rs2149082544
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala) rs2522325762
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr) rs1603383823
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys) rs2077752247
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln) rs2077752247
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg) rs2522325822
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.1697del (p.Leu566fs) rs2522325861
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter) rs2522288858
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=) rs2149090295
NM_000052.7(ATP7A):c.1707+12T>G rs2522325997
NM_000052.7(ATP7A):c.1707+16del rs782744864
NM_000052.7(ATP7A):c.1707+17G>A rs2522326021
NM_000052.7(ATP7A):c.1707+19G>A rs2522326032
NM_000052.7(ATP7A):c.1707+1G>A rs1569549753
NM_000052.7(ATP7A):c.1707+4A>G rs2522325927
NM_000052.7(ATP7A):c.1707+5G>A rs2522325937
NM_000052.7(ATP7A):c.1707+9G>C rs2149090300
NM_000052.7(ATP7A):c.1708-13T>G
NM_000052.7(ATP7A):c.1708-19A>G rs2522340847
NM_000052.7(ATP7A):c.1708-1G>C rs2522340928
NM_000052.7(ATP7A):c.1708-4dup
NM_000052.7(ATP7A):c.1708-5A>C rs782104249
NM_000052.7(ATP7A):c.1708-5A>G
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu) rs2522340980
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile) rs781932382
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.1734C>A (p.Cys578Ter) rs72554638
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu) rs372116692
NM_000052.7(ATP7A):c.1747G>C (p.Glu583Gln) rs2522341102
NM_000052.7(ATP7A):c.1748A>G (p.Glu583Gly)
NM_000052.7(ATP7A):c.1748_1749del (p.Glu583fs) rs2522341100
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly) rs2077799245
NM_000052.7(ATP7A):c.1754G>C (p.Ser585Thr)
NM_000052.7(ATP7A):c.1755T>C (p.Ser585=)
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile) rs2522341172
NM_000052.7(ATP7A):c.1761A>G (p.Thr587=)
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=) rs2522341182
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) rs1603384813
NM_000052.7(ATP7A):c.1767C>T (p.His589=) rs1603384813
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter) rs146887876
NM_000052.7(ATP7A):c.1770_1771del (p.Gly591fs) rs2522341220
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=) rs2149093521
NM_000052.7(ATP7A):c.1776C>G (p.Ile592Met)
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) rs2522341282
NM_000052.7(ATP7A):c.1780dup (p.Tyr594fs) rs2522341288
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=) rs797045336
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.1797G>A (p.Leu599=)
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp) rs2077547692
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser) rs371777895
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=) rs2522341363
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys) rs1557234099
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg) rs2522341379
NM_000052.7(ATP7A):c.180G>A (p.Lys60=) rs2522288896
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.1818del (p.Lys607fs) rs2522341426
NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter) rs797045337
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser) rs1569549840
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala) rs2077800100
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly) rs782528311
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1856dup (p.His620fs) rs2522341532
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met) rs782818837
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val) rs1399879043
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln) rs1382569560
NM_000052.7(ATP7A):c.1869+12G>T rs781789555
NM_000052.7(ATP7A):c.1869+17del rs1557234116
NM_000052.7(ATP7A):c.1869+3A>T
NM_000052.7(ATP7A):c.1869+4A>G rs2522341595
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.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1870-2A>T rs2522347888
NM_000052.7(ATP7A):c.1870-7T>A
NM_000052.7(ATP7A):c.1870-7T>G rs2522347845
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) rs2522347918
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=) rs782299586
NM_000052.7(ATP7A):c.1883A>T (p.Glu628Val) rs2522347954
NM_000052.7(ATP7A):c.1884dup (p.Ala629fs) rs2522347962
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=) rs1557234404
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) rs876661241
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile) rs2522348043
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.1898A>G (p.Lys633Arg) rs2522348072
NM_000052.7(ATP7A):c.1898_1911del (p.Lys633fs) rs2149094952
NM_000052.7(ATP7A):c.1899G>A (p.Lys633=)
NM_000052.7(ATP7A):c.189G>A (p.Gln63=) rs782389057
NM_000052.7(ATP7A):c.1903G>C (p.Asp635His) rs2149094962
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala) rs1557234408
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu) rs2522348126
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=) rs1329880416
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=) rs1329880416
NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter) rs151340631
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly) rs782354908
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn) rs781910954
NM_000052.7(ATP7A):c.1920C>T (p.His640=) rs2149094980
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn) rs2077822731
NM_000052.7(ATP7A):c.1924G>T (p.Asp642Tyr)
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs) rs2522348248
NM_000052.7(ATP7A):c.1924del (p.Asp642fs) rs2522348266
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu) rs782129043
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=) rs782075151
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1936G>T (p.Glu646Ter) rs2522348324
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala) rs2077822914
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter) rs2522348387
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 rs1557234429
NM_000052.7(ATP7A):c.1946+12G>C rs1557234429
NM_000052.7(ATP7A):c.1946+15G>C rs2522348470
NM_000052.7(ATP7A):c.1946+16T>G rs2522348483
NM_000052.7(ATP7A):c.1946+1G>A rs797045340
NM_000052.7(ATP7A):c.1946+1G>C rs797045340
NM_000052.7(ATP7A):c.1946+1G>T rs797045340
NM_000052.7(ATP7A):c.1946+2T>C rs2522348415
NM_000052.7(ATP7A):c.1946+4A>G rs2522348421
NM_000052.7(ATP7A):c.1946+5G>A rs797045341
NM_000052.7(ATP7A):c.1946+5G>C rs797045341
NM_000052.7(ATP7A):c.1946+6T>G rs2522348441
NM_000052.7(ATP7A):c.1947-16_1947-14del rs2077824641
NM_000052.7(ATP7A):c.1947-16del rs2149095131
NM_000052.7(ATP7A):c.1947-18T>C rs2522349392
NM_000052.7(ATP7A):c.1947-19T>C rs2522349384
NM_000052.7(ATP7A):c.1947-1G>A rs794729231
NM_000052.7(ATP7A):c.1947-1G>C rs794729231
NM_000052.7(ATP7A):c.1947-1G>T rs794729231
NM_000052.7(ATP7A):c.1947-3_1948dup rs2522349526
NM_000052.7(ATP7A):c.1947-7A>C rs2077824853
NM_000052.7(ATP7A):c.1947-9C>T rs2077824790
NM_000052.7(ATP7A):c.1949G>A (p.Trp650Ter) rs2522349544
NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter) rs797045342
NM_000052.7(ATP7A):c.1950G>C (p.Trp650Cys)
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=) rs2077825077
NM_000052.7(ATP7A):c.1958C>A (p.Ser653Tyr) rs2522349596
NM_000052.7(ATP7A):c.1958C>T (p.Ser653Phe) rs2522349596
NM_000052.7(ATP7A):c.1966G>C (p.Val656Leu) rs2077825139
NM_000052.7(ATP7A):c.1971T>A (p.Ser657Arg) rs2522349651
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val) rs782333354
NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs) rs797045343
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser) rs920452357
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr) rs1209949067
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe) rs2522349735
NM_000052.7(ATP7A):c.1987C>T (p.Pro663Ser)
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu) rs2522349752
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu) rs782783435
NM_000052.7(ATP7A):c.1992A>G (p.Val664=) rs2522349799
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.1A>C (p.Met1Leu)
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) rs371215281
NM_000052.7(ATP7A):c.2013G>C (p.Met671Ile)
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr) rs1356535025
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) rs2522350026
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu) rs781792854
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys) rs2522350046
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=) rs2077825942
NM_000052.7(ATP7A):c.2042T>C (p.Leu681Pro)
NM_000052.7(ATP7A):c.2045_2046del (p.His682fs) rs2522350105
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg) rs2522350113
NM_000052.7(ATP7A):c.2051del (p.Asn684fs) rs2522350125
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=) rs781837620
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter) rs1557234510
NM_000052.7(ATP7A):c.2056_2059del (p.Gln685_Asn686insTer) rs2522350171
NM_000052.7(ATP7A):c.2057del (p.Asn686fs) rs2522350164
NM_000052.7(ATP7A):c.2059A>C (p.Met687Leu)
NM_000052.7(ATP7A):c.2059A>G (p.Met687Val) rs2522350177
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu) rs2522350177
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=) rs2149095237
NM_000052.7(ATP7A):c.2068G>T (p.Glu690Ter) rs72554641
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del) rs2522350270
NM_000052.7(ATP7A):c.2086_2087del (p.His696fs) rs2522350311
NM_000052.7(ATP7A):c.208G>C (p.Gly70Arg)
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys) rs2077826335
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=) rs2522350372
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=) rs1318545869
NM_000052.7(ATP7A):c.210C>T (p.Gly70=) rs2522289032
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter) rs2522350411
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His) rs1471996737
NM_000052.7(ATP7A):c.2117T>G (p.Leu706Arg) rs72554642
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=) rs781988033
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe) rs782037158
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.2153T>A (p.Leu718Ter) rs72554643
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=) rs2522350617
NM_000052.7(ATP7A):c.2158T>C (p.Cys720Arg) rs1569549892
NM_000052.7(ATP7A):c.2159del (p.Cys720fs) rs2522350646
NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter) rs797045346
NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs) rs2522350678
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=) rs2522350684
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu) rs1223126237
NM_000052.7(ATP7A):c.216T>C (p.Asp72=)
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu) rs2522350713
NM_000052.7(ATP7A):c.2170C>T (p.Gln724Ter) rs2522350713
NM_000052.7(ATP7A):c.2171A>C (p.Gln724Pro) rs2522350731
NM_000052.7(ATP7A):c.2172+12G>C rs1557234548
NM_000052.7(ATP7A):c.2172+1G>A rs2522350754
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+5_2172+19del rs2522350758
NM_000052.7(ATP7A):c.2172+6T>G rs2522350798
NM_000052.7(ATP7A):c.2172+8A>C rs2149095311
NM_000052.7(ATP7A):c.2172+8_2172+12dup rs782170618
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2173-15A>G rs781897029
NM_000052.7(ATP7A):c.2173-15A>T rs781897029
NM_000052.7(ATP7A):c.2173-1G>C rs2522354322
NM_000052.7(ATP7A):c.2173-2A>G rs797045349
NM_000052.7(ATP7A):c.2173-4G>T rs781804954
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu) rs572956005
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter) rs72554644
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg) rs2077837052
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter) rs2149095968
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=) rs2522354407
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=) rs2149095973
NM_000052.7(ATP7A):c.2197A>G (p.Ile733Val)
NM_000052.7(ATP7A):c.2199del (p.Gln734fs)
NM_000052.7(ATP7A):c.21G>C (p.Val7=) rs2149073808
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His) rs2149095977
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=) rs2522354439
NM_000052.7(ATP7A):c.2206dup (p.Tyr736fs) rs2522354447
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe) rs1569549929
NM_000052.7(ATP7A):c.2207del (p.Tyr736fs) rs2522354463
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=) rs2522354501
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg) rs2077837209
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter) rs2522354532
NM_000052.7(ATP7A):c.222T>C (p.Val74=) rs2522289111
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr) rs2522354556
NM_000052.7(ATP7A):c.2244A>G (p.Val748=) rs2149095993
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=) rs2077837429
NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs) rs797045352
NM_000052.7(ATP7A):c.2253G>T (p.Val751=) rs782375469
NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs) rs2522354641
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=) rs2522354646
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=) rs2149096003
NM_000052.7(ATP7A):c.2267T>C (p.Ile756Thr)
NM_000052.7(ATP7A):c.2267T>G (p.Ile756Ser)
NM_000052.7(ATP7A):c.2280C>G (p.Tyr760Ter) rs2522354743
NM_000052.7(ATP7A):c.2281T>C (p.Ser761Pro) rs2522354750
NM_000052.7(ATP7A):c.2284_2285del (p.Leu762fs) rs2522354757
NM_000052.7(ATP7A):c.2289T>G (p.Ile763Met)
NM_000052.7(ATP7A):c.2293C>T (p.Leu765Phe) rs782148626
NM_000052.7(ATP7A):c.2302del (p.Ala768fs) rs797045353
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=) rs2522354871
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val) rs1004861034
NM_000052.7(ATP7A):c.2314_2317del (p.Arg772fs) rs2522354904
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) rs2522354956
NM_000052.7(ATP7A):c.2337T>A (p.Thr779=)
NM_000052.7(ATP7A):c.2337_2350del (p.Phe780fs) rs2522354961
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu) rs2077838145
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly) rs2522354995
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=) rs2077838175
NM_000052.7(ATP7A):c.2347dup (p.Thr783fs) rs2522355006
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=) rs2522355013
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=) rs1250503922
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2354dup (p.Met786fs) rs2522355020
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=) rs555591868
NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg) rs797045354
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.2365G>T (p.Val789Leu) rs781834675
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly) rs2522289170
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met) rs2077838404
NM_000052.7(ATP7A):c.2376A>G (p.Ala792=) rs1208805004
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=) rs1208805004
NM_000052.7(ATP7A):c.237C>T (p.Asp79=) rs2522289182
NM_000052.7(ATP7A):c.2383C>A (p.Arg795=) rs72554645
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2388G>A (p.Trp796Ter)
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=) rs1603385697
NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs) rs797045355
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr) rs1557234761
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu) rs2522355214
NM_000052.7(ATP7A):c.2405_2406+1delinsT rs797045356
NM_000052.7(ATP7A):c.2406+12A>C rs1557234762
NM_000052.7(ATP7A):c.2406+14G>T rs1281667159
NM_000052.7(ATP7A):c.2406+16G>A rs1290671325
NM_000052.7(ATP7A):c.2406+16_2406+18del rs782017566
NM_000052.7(ATP7A):c.2406+19A>T rs2522355306
NM_000052.7(ATP7A):c.2406G>C (p.Lys802Asn) rs2077838704
NM_000052.7(ATP7A):c.2407-10del rs2522358730
NM_000052.7(ATP7A):c.2407-19T>A rs2522358704
NM_000052.7(ATP7A):c.2407-19TGTT[3] rs1557234922
NM_000052.7(ATP7A):c.2407-2A>G rs2522358774
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) rs2522358780
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser) rs2522358839
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu) rs1382938061
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=) rs1557234929
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr) rs1384601697
NM_000052.7(ATP7A):c.2440T>C (p.Ser814Pro) rs2522358901
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=) rs781953495
NM_000052.7(ATP7A):c.2446C>T (p.Gln816Ter) rs2077849776
NM_000052.7(ATP7A):c.2446del (p.Gln816fs) rs2522358948
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile) rs1557234937
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=) rs2149096833
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=) rs2149096833
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly) rs2522358992
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=) rs2149096836
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) rs1050354930
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr) rs782768766
NM_000052.7(ATP7A):c.2467G>C (p.Val823Leu)
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser) rs2522359081
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=) rs2522359104
NM_000052.7(ATP7A):c.2473C>G (p.Leu825Val)
NM_000052.7(ATP7A):c.2473C>T (p.Leu825Phe)
NM_000052.7(ATP7A):c.2473_2474del (p.Thr824_Leu825insTer) rs2522359097
NM_000052.7(ATP7A):c.2486A>G (p.Asn829Ser)
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val) rs782818596
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe) rs936589739
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His) rs782451569
NM_000052.7(ATP7A):c.2498+16C>G rs2522359238
NM_000052.7(ATP7A):c.2498+18T>C rs2522359260
NM_000052.7(ATP7A):c.2498+1G>A rs2522359190
NM_000052.7(ATP7A):c.2498+2T>A rs797045357
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 rs2522361751
NM_000052.7(ATP7A):c.2499-12A>T rs2149097328
NM_000052.7(ATP7A):c.2499-17T>C
NM_000052.7(ATP7A):c.2499-18A>G rs2522361729
NM_000052.7(ATP7A):c.2499-1G>A rs797045359
NM_000052.7(ATP7A):c.2499-1_2504dup rs797045358
NM_000052.7(ATP7A):c.2499-20T>C rs2522361715
NM_000052.7(ATP7A):c.2499-3C>T rs2077858280
NM_000052.7(ATP7A):c.2499-7T>A rs782260332
NM_000052.7(ATP7A):c.2508del (p.Val837fs) rs2522361831
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) rs1603386154
NM_000052.7(ATP7A):c.2518G>T (p.Glu840Ter) rs2522361846
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser) rs2522289247
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe) rs2522361855
NM_000052.7(ATP7A):c.2526A>G (p.Val842=) rs2522361861
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg) rs981999886
NM_000052.7(ATP7A):c.2536G>A (p.Asp846Asn)
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=) rs2077858783
NM_000052.7(ATP7A):c.2540T>C (p.Ile847Thr) rs2149097365
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu) rs797045360
NM_000052.7(ATP7A):c.2557G>A (p.Gly853Arg) rs2149097380
NM_000052.7(ATP7A):c.2557G>C (p.Gly853Arg) rs2149097380
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=) rs2522362045
NM_000052.7(ATP7A):c.256_262del (p.Asp86fs) rs2522289268
NM_000052.7(ATP7A):c.2574G>A (p.Val858=) rs2522362112
NM_000052.7(ATP7A):c.2579G>T (p.Gly860Val) rs2522362143
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.2595A>G (p.Gly865=) rs1557235097
NM_000052.7(ATP7A):c.2596C>T (p.His866Tyr)
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr) rs2149097408
NM_000052.7(ATP7A):c.2609A>G (p.Asp870Gly) rs2522362273
NM_000052.7(ATP7A):c.2612_2613del (p.Glu871fs) rs2522362284
NM_000052.7(ATP7A):c.2618T>G (p.Leu873Arg) rs72554646
NM_000052.7(ATP7A):c.261C>G (p.Thr87=) rs2149082604
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg) rs2522362314
NM_000052.7(ATP7A):c.2626+11T>C
NM_000052.7(ATP7A):c.2626+11T>G rs2077859760
NM_000052.7(ATP7A):c.2626+16G>A rs2149097436
NM_000052.7(ATP7A):c.2626+16G>C
NM_000052.7(ATP7A):c.2626+17G>C rs2522362443
NM_000052.7(ATP7A):c.2626+18A>G rs2522362458
NM_000052.7(ATP7A):c.2626+19T>G
NM_000052.7(ATP7A):c.2626+1G>A rs2522362335
NM_000052.7(ATP7A):c.2626+2T>A rs2522362339
NM_000052.7(ATP7A):c.2626+5G>T rs2149097418
NM_000052.7(ATP7A):c.2626+8C>T rs2149097424
NM_000052.7(ATP7A):c.2626G>C (p.Gly876Arg) rs2522362325
NM_000052.7(ATP7A):c.2627-12C>T
NM_000052.7(ATP7A):c.2627-16T>G rs1557235589
NM_000052.7(ATP7A):c.2627-17C>T rs782200911
NM_000052.7(ATP7A):c.2627-19A>G rs2077895594
NM_000052.7(ATP7A):c.2627-19A>T rs2077895594
NM_000052.7(ATP7A):c.2627-2A>G rs2522372357
NM_000052.7(ATP7A):c.2627-7C>T rs1603386991
NM_000052.7(ATP7A):c.2627-8C>G rs2522372330
NM_000052.7(ATP7A):c.2627G>A (p.Gly876Glu) rs2522372362
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=) rs150976855
NM_000052.7(ATP7A):c.2632G>A (p.Ala878Thr)
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu) rs2077895767
NM_000052.7(ATP7A):c.2637G>T (p.Met879Ile)
NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer) rs797045361
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=) rs2077895841
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu) rs1557235593
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His) rs2077895902
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=) rs781976106
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=) rs1557235600
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=) rs2149099638
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro) rs2522372520
NM_000052.7(ATP7A):c.2663del (p.Thr888fs) rs2077896094
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala) rs2522372548
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=) rs2149099651
NM_000052.7(ATP7A):c.2686C>T (p.Gln896Ter) rs72554647
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) rs782067710
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.2734A>G (p.Thr912Ala) rs1250703588
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=) rs2149099708
NM_000052.7(ATP7A):c.2743C>T (p.Gln915Ter) rs2522372823
NM_000052.7(ATP7A):c.2747T>C (p.Ile916Thr) rs2077896781
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp) rs797045362
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys) rs2149099719
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln) rs2149099719
NM_000052.7(ATP7A):c.2770C>T (p.Gln924Ter) rs72554648
NM_000052.7(ATP7A):c.2773_2781+4del rs2522372906
NM_000052.7(ATP7A):c.2774_2775del (p.Thr925fs) rs2522372927
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=) rs1603387045
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) rs1557235619
NM_000052.7(ATP7A):c.2781+14C>T rs2522373026
NM_000052.7(ATP7A):c.2781+17G>C rs1480799504
NM_000052.7(ATP7A):c.2781+1G>A rs2522372985
NM_000052.7(ATP7A):c.2781+5C>T rs2522372990
NM_000052.7(ATP7A):c.2781+8A>T rs2149099742
NM_000052.7(ATP7A):c.2781G>A (p.Lys927=) rs797045363
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn) rs797045363
NM_000052.7(ATP7A):c.2781_2781+1delinsTT
NM_000052.7(ATP7A):c.2782-13T>C rs2522374625
NM_000052.7(ATP7A):c.2782-17_2782-15del rs782800613
NM_000052.7(ATP7A):c.2782-4C>T rs2522374662
NM_000052.7(ATP7A):c.2782-8A>C rs2149100096
NM_000052.7(ATP7A):c.2782-9T>C rs2522374642
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val) rs2077901851
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.2790C>G (p.Ile930Met) rs2149100114
NM_000052.7(ATP7A):c.279G>A (p.Thr93=)
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=) rs2149100126
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=) rs2522374751
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.2827C>T (p.Pro943Ser)
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser) rs2077902236
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs) rs1603387278
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile) rs2077902319
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe) rs2077902319
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr) rs1557235719
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=) rs2522374913
NM_000052.7(ATP7A):c.2867G>A (p.Trp956Ter) rs67273048
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn) rs781922067
NM_000052.7(ATP7A):c.2870T>G (p.Ile957Ser)
NM_000052.7(ATP7A):c.2874A>C (p.Val958=) rs2522374968
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val) rs1557235734
NM_000052.7(ATP7A):c.2888del (p.Asn963fs) rs2522374997
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=) rs2522375018
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys) rs1557235740
NM_000052.7(ATP7A):c.2916+11T>G rs2522375107
NM_000052.7(ATP7A):c.2916+19C>T rs2077902945
NM_000052.7(ATP7A):c.2916+1G>A rs2522375063
NM_000052.7(ATP7A):c.2916+3_2916+6del rs797045364
NM_000052.7(ATP7A):c.2916+5G>A rs2522375086
NM_000052.7(ATP7A):c.2917-13C>A rs1343084607
NM_000052.7(ATP7A):c.2917-13C>T rs1343084607
NM_000052.7(ATP7A):c.2917-14C>G
NM_000052.7(ATP7A):c.2917-14C>T rs1603389008
NM_000052.7(ATP7A):c.2917-16T>C rs2522392090
NM_000052.7(ATP7A):c.2917-19T>G rs2522392081
NM_000052.7(ATP7A):c.2917-7T>C rs376898023
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val) rs2522392138
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=) rs1557236690
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp) rs1557236695
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys) rs2522392203
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=) rs72554649
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly) rs72554649
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2938del (p.Arg980fs) rs2522392211
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter) rs2522289412
NM_000052.7(ATP7A):c.2944G>T (p.Glu982Ter) rs2522392261
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2953del (p.Ile985fs) rs2522392299
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.2971del (p.Ala991fs) rs2522392362
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.297A>C (p.Pro99=) rs2522289444
NM_000052.7(ATP7A):c.297A>G (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=) rs2522392406
NM_000052.7(ATP7A):c.2998T>C (p.Cys1000Arg) rs2522392425
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3005G>T (p.Cys1002Phe) rs2522392434
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro) rs77671794
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>A (p.Gly1005Arg) rs1569550143
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter) rs1569550143
NM_000052.7(ATP7A):c.3017T>C (p.Leu1006Pro) rs72554651
NM_000052.7(ATP7A):c.3020C>T (p.Ala1007Val) rs2077967805
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=) rs2522392500
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) rs1569549582
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.3040dup (p.Val1014fs) rs2522392546
NM_000052.7(ATP7A):c.3043G>A (p.Gly1015Ser) rs2522392563
NM_000052.7(ATP7A):c.3044G>A (p.Gly1015Asp) rs2149104921
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=) rs2149104924
NM_000052.7(ATP7A):c.3045del (p.Thr1016fs) rs2522392582
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=) rs2149104926
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg) rs1557236754
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser) rs2077968146
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.3065del (p.Asn1022fs) rs2522392626
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys) rs2522392629
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=) rs2522392636
NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del) rs797045366
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met) rs782729361
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=) rs782729361
NM_000052.7(ATP7A):c.3073_3074insAT (p.Leu1025fs) rs2522392667
NM_000052.7(ATP7A):c.3077T>C (p.Ile1026Thr) rs2149104943
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=) rs2149104947
NM_000052.7(ATP7A):c.3081del (p.Gly1028fs) rs2522392674
NM_000052.7(ATP7A):c.308T>G (p.Ile103Ser)
NM_000052.7(ATP7A):c.3094T>G (p.Leu1032Val)
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile) rs2522392697
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr) rs2077968562
NM_000052.7(ATP7A):c.3111+10T>C rs974038516
NM_000052.7(ATP7A):c.3111+10T>G rs974038516
NM_000052.7(ATP7A):c.3111+11C>A rs2077968902
NM_000052.7(ATP7A):c.3111+13C>G rs2522392761
NM_000052.7(ATP7A):c.3111+18A>T rs2149104971
NM_000052.7(ATP7A):c.3111+19C>T rs1603389051
NM_000052.7(ATP7A):c.3111+1G>A rs1557236762
NM_000052.7(ATP7A):c.3111+6A>G rs2077968712
NM_000052.7(ATP7A):c.3111+7C>T rs2522392743
NM_000052.7(ATP7A):c.3111+8A>G rs962695990
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn) rs2522392716
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 rs2522396767
NM_000052.7(ATP7A):c.3112-1G>A rs797045367
NM_000052.7(ATP7A):c.3112-2A>C rs2522396884
NM_000052.7(ATP7A):c.3112-2A>G rs2522396884
NM_000052.7(ATP7A):c.3112-5T>C rs2149106085
NM_000052.7(ATP7A):c.3112-5dup rs1569550186
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=) rs1057520234
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile) rs782482837
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala) rs2077983152
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro) rs1557231597
NM_000052.7(ATP7A):c.3124del (p.Val1042fs) rs797045368
NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly) rs797045369
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=) rs2522396963
NM_000052.7(ATP7A):c.3131A>G (p.Asp1044Gly) rs2522396968
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=) rs797045370
NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu) rs797045370
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile) rs1064796648
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu) rs1557237050
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=) rs2522397004
NM_000052.7(ATP7A):c.3143C>T (p.Thr1048Ile) rs2522397012
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln) rs142998552
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala) rs2522397044
NM_000052.7(ATP7A):c.3158C>A (p.Thr1053Asn)
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=) rs2522397072
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=) rs2522397123
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg) rs2077983527
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val) rs1277842658
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=) rs2149106139
NM_000052.7(ATP7A):c.318A>G (p.Thr106=) rs781851530
NM_000052.7(ATP7A):c.319T>C (p.Leu107=) rs2149082638
NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs) rs2522289553
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser) rs2149106147
NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs) rs2522397192
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg) rs781802888
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val) rs782681856
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=) rs2149106153
NM_000052.7(ATP7A):c.3241G>T (p.Glu1081Ter) rs72554653
NM_000052.7(ATP7A):c.3244dup (p.Ser1082fs) rs2522397295
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn) rs1603389390
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp) rs2522397316
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=) rs2149106167
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) rs2522397337
NM_000052.7(ATP7A):c.3257del (p.His1086fs) rs2522397345
NM_000052.7(ATP7A):c.3258C>T (p.His1086=) rs1557237068
NM_000052.7(ATP7A):c.3264A>G (p.Leu1088=)
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile) rs2149106178
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr) rs2522397414
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile) rs996808810
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile) rs2522397464
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys) rs2522397473
NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter) rs797045372
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly) rs2522397486
NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter) rs797045373
NM_000052.7(ATP7A):c.3288C>T (p.Cys1096=)
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter) rs1557237081
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg) rs2522397517
NM_000052.7(ATP7A):c.3293A>T (p.Gln1098Leu)
NM_000052.7(ATP7A):c.3293_3294del (p.Gln1098fs) rs2522397541
NM_000052.7(ATP7A):c.3294+12dup rs1223290704
NM_000052.7(ATP7A):c.3294+14C>T rs1603389413
NM_000052.7(ATP7A):c.3294+15dup rs2522397616
NM_000052.7(ATP7A):c.3294+16C>T rs1286045538
NM_000052.7(ATP7A):c.3294+1G>A rs797045374
NM_000052.7(ATP7A):c.3294+1G>C rs797045374
NM_000052.7(ATP7A):c.3294+1G>T rs797045374
NM_000052.7(ATP7A):c.3294+2T>C rs2522397551
NM_000052.7(ATP7A):c.3294+3A>G
NM_000052.7(ATP7A):c.3294+8T>G
NM_000052.7(ATP7A):c.3295-11_3295-10del rs2522400998
NM_000052.7(ATP7A):c.3295-14T>C rs2522400992
NM_000052.7(ATP7A):c.3295-5G>T rs2149107138
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.3299T>C (p.Leu1100Pro) rs2522401037
NM_000052.7(ATP7A):c.329C>T (p.Thr110Ile)
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly) rs2522401043
NM_000052.7(ATP7A):c.330C>A (p.Thr110=) rs1557231608
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=) rs2522401069
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr) rs2149107157
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu) rs2522401120
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu) rs879254006
NM_000052.7(ATP7A):c.3340del (p.Val1114fs) rs797045375
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=) rs2522401148
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser) rs2149107164
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser) rs2522289591
NM_000052.7(ATP7A):c.3352G>A (p.Gly1118Ser) rs797045376
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys) rs797045376
NM_000052.7(ATP7A):c.3353G>A (p.Gly1118Asp) rs72554654
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=) rs2522401175
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=) rs2149107179
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg) rs781914030
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=) rs2522401207
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile) rs2077995918
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe) rs2077995918
NM_000052.7(ATP7A):c.3377T>C (p.Ile1126Thr)
NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter) rs797045377
NM_000052.7(ATP7A):c.3389T>C (p.Leu1130Pro)
NM_000052.7(ATP7A):c.338_339del (p.Val113fs) rs2522289608
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr) rs2077996076
NM_000052.7(ATP7A):c.3397A>G (p.Asn1133Asp)
NM_000052.7(ATP7A):c.339G>A (p.Val113=) rs2522289614
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>C (p.Asn1141=) rs1557237441
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr) rs2522401361
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu) rs374154862
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=) rs2522401385
NM_000052.7(ATP7A):c.3445del (p.Gln1149fs) rs2522401408
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=) rs2522401484
NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter) rs797045378
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.3489G>A (p.Met1163Ile) rs374672270
NM_000052.7(ATP7A):c.348del (p.Ile118fs) rs2522289672
NM_000052.7(ATP7A):c.3492del (p.Ile1165fs) rs2522401589
NM_000052.7(ATP7A):c.3493A>G (p.Ile1165Val)
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr) rs2522401593
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu) rs2077996988
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=) rs2077996988
NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs) rs2522401623
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter) rs2522289680
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=) rs2522401634
NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter) rs797045379
NM_000052.7(ATP7A):c.3505A>C (p.Ile1169Leu)
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=) rs2522401645
NM_000052.7(ATP7A):c.3511+1G>A rs2522401651
NM_000052.7(ATP7A):c.3511+8A>C rs2149107265
NM_000052.7(ATP7A):c.3511+9A>C rs2149107266
NM_000052.7(ATP7A):c.3511+9A>T rs2149107266
NM_000052.7(ATP7A):c.3512-16C>A
NM_000052.7(ATP7A):c.3512-16C>T rs2522410423
NM_000052.7(ATP7A):c.3512-6T>C rs2078029932
NM_000052.7(ATP7A):c.3512-7C>T rs2522410449
NM_000052.7(ATP7A):c.3512-8A>T
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr) rs1557237993
NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs) rs2522410495
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe) rs1480388236
NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs) rs2522410521
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del) rs782588630
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=) rs1480638705
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) rs2078030304
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val) rs2522289690
NM_000052.7(ATP7A):c.3531G>T (p.Gln1177His)
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys) rs1557238006
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=) rs2522410587
NM_000052.7(ATP7A):c.3537del (p.Val1180fs) rs797045380
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=) rs2522289726
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=) rs2522410690
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser) rs1557231613
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr) rs1374099672
NM_000052.7(ATP7A):c.3602A>T (p.Asp1201Val) rs2522410772
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val) rs2522410779
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.360T>G (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs) rs2522289755
NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs) rs2522410806
NM_000052.7(ATP7A):c.3623G>A (p.Arg1208Lys)
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=) rs2522410852
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu) rs2522410856
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=) rs2522410872
NM_000052.7(ATP7A):c.3652G>C (p.Val1218Leu)
NM_000052.7(ATP7A):c.3653T>C (p.Val1218Ala)
NM_000052.7(ATP7A):c.3658+12C>T
NM_000052.7(ATP7A):c.3658+17G>T rs2522411017
NM_000052.7(ATP7A):c.3658+19A>G rs1557238033
NM_000052.7(ATP7A):c.3658+4A>T rs2522410956
NM_000052.7(ATP7A):c.3659-15C>T
NM_000052.7(ATP7A):c.3659-5A>G rs1557238245
NM_000052.7(ATP7A):c.3659-7A>G rs2522414349
NM_000052.7(ATP7A):c.3659-9C>T rs1557238242
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=) rs2522414397
NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs) rs2522414410
NM_000052.7(ATP7A):c.3671G>A (p.Gly1224Asp)
NM_000052.7(ATP7A):c.3671G>T (p.Gly1224Val)
NM_000052.7(ATP7A):c.3681C>T (p.Ala1227=)
NM_000052.7(ATP7A):c.3681del (p.Ile1228fs) rs2522414433
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr) rs2522414446
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly) rs2522414458
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232
NM_000052.7(ATP7A):c.3690C>A (p.Asp1230Glu)
NM_000052.7(ATP7A):c.3692del (p.Thr1231fs) rs2522414476
NM_000052.7(ATP7A):c.3693_3694del (p.Val1232fs) rs2522414486
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.3705del (p.Ala1236fs) rs2522414504
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly) rs1308670071
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=) rs2522414530
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val) rs1603390828
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) rs1603390828
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=) rs2522414577
NM_000052.7(ATP7A):c.372T>C (p.Thr124=)
NM_000052.7(ATP7A):c.3731A>C (p.Lys1244Thr)
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr) rs2522414600
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=) rs2522414614
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=) rs2149110492
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn) rs2522414619
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile) rs2522414619
NM_000052.7(ATP7A):c.3763G>A (p.Gly1255Arg) rs72554655
NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu) rs797045382
NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer) rs797045383
NM_000052.7(ATP7A):c.3775A>T (p.Lys1259Ter) rs782428979
NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs) rs797045384
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val) rs782629239
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) rs372066609
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr) rs2078042001
NM_000052.7(ATP7A):c.3792del (p.Ile1264fs) rs2522414765
NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs) rs2522414777
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu) rs797045385
NM_000052.7(ATP7A):c.3801+10del
NM_000052.7(ATP7A):c.3801+11G>A rs2522414833
NM_000052.7(ATP7A):c.3801+17T>C rs2522414854
NM_000052.7(ATP7A):c.3801+1G>T rs797045386
NM_000052.7(ATP7A):c.3801+3A>C rs2522414795
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000052.7(ATP7A):c.3802-15A>G rs2078057111
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) rs2522289846
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.3825T>C (p.Ala1275=)
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=) rs2149111740
NM_000052.7(ATP7A):c.3836C>T (p.Pro1279Leu) rs2522418902
NM_000052.7(ATP7A):c.3840T>C (p.Ser1280=)
NM_000052.7(ATP7A):c.3844A>G (p.Lys1282Glu) rs2522418920
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=) rs2522418927
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter) rs2522418950
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val) rs1243982560
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=) rs1043267619
NM_000052.7(ATP7A):c.3862C>T (p.Gln1288Ter) rs72554656
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=) rs2149111751
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=) rs2522418993
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.3876G>A (p.Glu1292=) rs2522419028
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=) rs2522419057
NM_000052.7(ATP7A):c.3882del (p.Lys1294fs) rs2522419065
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=) rs372489000
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile) rs782499160
NM_000052.7(ATP7A):c.3899G>A (p.Gly1300Glu) rs2522419168
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly) rs1557238588
NM_000052.7(ATP7A):c.3904G>A (p.Gly1302Arg) rs72554657
NM_000052.7(ATP7A):c.3905G>A (p.Gly1302Glu) rs2522419203
NM_000052.7(ATP7A):c.3905G>T (p.Gly1302Val) rs2522419203
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.3912T>A (p.Asn1304Lys) rs2522419223
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn) rs1603391127
NM_000052.7(ATP7A):c.3914A>C (p.Asp1305Ala) rs2522419236
NM_000052.7(ATP7A):c.3914A>G (p.Asp1305Gly) rs2522419236
NM_000052.7(ATP7A):c.3917C>T (p.Ser1306Phe)
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser) rs2522289909
NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg) rs797045388
NM_000052.7(ATP7A):c.3920del (p.Pro1307fs) rs797045389
NM_000052.7(ATP7A):c.3923C>A (p.Ala1308Asp) rs2522419287
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=) rs2522419307
NM_000052.7(ATP7A):c.3928del (p.Ala1310fs)
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=) rs1557238594
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=) rs2149111823
NM_000052.7(ATP7A):c.393T>A (p.Pro131=) rs2522289928
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=) rs1569550333
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) rs797045390
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser) rs2522419371
NM_000052.7(ATP7A):c.3949G>C (p.Ala1317Pro)
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=) rs2522419391
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=) rs1557238599
NM_000052.7(ATP7A):c.395C>A (p.Ser132Tyr)
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=) rs2522419422
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu) rs369114635
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.3974C>T (p.Ala1325Val) rs2522419458
NM_000052.7(ATP7A):c.3980A>G (p.Glu1327Gly) rs2149111854
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=) rs2522419478
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly) rs1345066409
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=) rs2522419517
NM_000052.7(ATP7A):c.399A>G (p.Ile133Met)
NM_000052.7(ATP7A):c.39T>C (p.Ser13=) rs986987107
NM_000052.7(ATP7A):c.4005+13G>T rs2522419561
NM_000052.7(ATP7A):c.4005+16T>A rs2522419577
NM_000052.7(ATP7A):c.4005+17G>C rs1557238609
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4005+1del rs2522419525
NM_000052.7(ATP7A):c.4005+5G>A rs2522419534
NM_000052.7(ATP7A):c.4006-10C>G rs782741784
NM_000052.7(ATP7A):c.4006-13T>C rs782065878
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
NM_000052.7(ATP7A):c.4006-2A>G rs2522420855
NM_000052.7(ATP7A):c.4006-4T>C rs2522420841
NM_000052.7(ATP7A):c.4006-7T>A rs1406270253
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu) rs371441365
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del) rs797045392
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=) rs2522420898
NM_000052.7(ATP7A):c.4017G>C (p.Leu1339=)
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=) rs2078061918
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=) rs368344695
NM_000052.7(ATP7A):c.4030_4031insTGCCA (p.Ser1344fs) rs2522420963
NM_000052.7(ATP7A):c.4032_4033delinsAT (p.Ser1344_Ile1345delinsArgPhe) rs2522420970
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) rs2522420993
NM_000052.7(ATP7A):c.4040T>C (p.Leu1347Ser)
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter) rs2522421015
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr) rs2149112238
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4048A>G (p.Lys1350Glu)
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn) rs2522421063
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp) rs2522421079
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=) rs2078062171
NM_000052.7(ATP7A):c.4057_4058dup (p.Ile1355fs) rs2522421100
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys) rs2078062220
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.4071A>G (p.Ile1357Met)
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=) rs2522421191
NM_000052.7(ATP7A):c.4085C>A (p.Ala1362Asp) rs2149112273
NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val) rs2149112273
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=) rs1557238690
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) rs1569549587
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe) rs2077547867
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
NM_000052.7(ATP7A):c.4105G>A (p.Gly1369Arg) rs2522421271
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser) rs2149082684
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=) rs2078062636
NM_000052.7(ATP7A):c.4117G>C (p.Ala1373Pro) rs2522421311
NM_000052.7(ATP7A):c.4118C>T (p.Ala1373Val) rs782620101
NM_000052.7(ATP7A):c.4123+12T>A rs2522421373
NM_000052.7(ATP7A):c.4123+17T>C rs375335733
NM_000052.7(ATP7A):c.4123+1G>A rs797045393
NM_000052.7(ATP7A):c.4123+3A>T rs2149112301
NM_000052.7(ATP7A):c.4123+5G>A rs2522421346
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg) rs797045394
NM_000052.7(ATP7A):c.4124-13A>G rs2078077420
NM_000052.7(ATP7A):c.4124-16C>T rs1211861666
NM_000052.7(ATP7A):c.4124-17C>A rs371435031
NM_000052.7(ATP7A):c.4124-3T>C rs2522425365
NM_000052.7(ATP7A):c.4124-538A>G rs2149113261
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter) rs2522290057
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) rs797045395
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser) rs2522425454
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=) rs2149113522
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter) rs2522425477
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly) rs2522425499
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile) rs2149113528
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala) rs1557238998
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=) rs2522425519
NM_000052.7(ATP7A):c.4167del (p.Ser1390fs) rs2522425524
NM_000052.7(ATP7A):c.4168T>C (p.Ser1390Pro) rs2522425533
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=) rs2149113538
NM_000052.7(ATP7A):c.4177A>G (p.Met1393Val) rs2522425562
NM_000052.7(ATP7A):c.4178T>C (p.Met1393Thr) rs2522425570
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=) rs2149113545
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu) rs797045396
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=) rs2522425593
NM_000052.7(ATP7A):c.4190C>T (p.Ser1397Phe) rs2149113551
NM_000052.7(ATP7A):c.4198_4199del (p.Val1400fs) rs2522425605
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg) rs2522425660
NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs) rs797045397
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala) rs2149113564
NM_000052.7(ATP7A):c.4210_4226+19del rs2522425673
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val) rs1557239007
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg) rs936157944
NM_000052.7(ATP7A):c.4223A>T (p.Lys1408Ile) rs936157944
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile) rs2149113574
NM_000052.7(ATP7A):c.4226+12A>G rs2522425765
NM_000052.7(ATP7A):c.4226+18C>A rs2522425783
NM_000052.7(ATP7A):c.4226+1G>A rs2522425730
NM_000052.7(ATP7A):c.4226+20C>T rs367719862
NM_000052.7(ATP7A):c.4226+2T>C rs2522425732
NM_000052.7(ATP7A):c.4226+5G>A rs797045398
NM_000052.7(ATP7A):c.4226+6T>C rs2522425746
NM_000052.7(ATP7A):c.4226+6T>G rs2522425746
NM_000052.7(ATP7A):c.4226+7A>G rs2522425752
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro) rs2522425721
NM_000052.7(ATP7A):c.4227-10A>G rs1557239082
NM_000052.7(ATP7A):c.4227-11C>T rs2149113924
NM_000052.7(ATP7A):c.4227-13T>G
NM_000052.7(ATP7A):c.4227-16T>C rs2522427111
NM_000052.7(ATP7A):c.4227-17C>T rs782651913
NM_000052.7(ATP7A):c.4227-18del rs2522427097
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys) rs2522427210
NM_000052.7(ATP7A):c.4238C>G (p.Pro1413Arg) rs782416661
NM_000052.7(ATP7A):c.4245C>G (p.Tyr1415Ter) rs782346811
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly) rs2149113944
NM_000052.7(ATP7A):c.4253dup (p.Tyr1418Ter) rs2522427320
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys) rs374043566
NM_000052.7(ATP7A):c.4261C>T (p.Pro1421Ser) rs2149113961
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs) rs2522427388
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser) rs1557239102
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.4288A>G (p.Ser1430Gly) rs2149113992
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn) rs2522427475
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.4311T>C (p.His1437=) rs782541211
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr) rs2522427561
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg) rs2522427561
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr) rs2522427606
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) rs782364202
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu) rs147848649
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=) rs1557239130
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=) rs2149114100
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn) rs2522427873
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn) rs2522427886
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.4465G>A (p.Val1489Met)
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala) rs2522427956
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=) rs1603391708
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu) rs2149114133
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys) rs2522427989
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn) rs897698502
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.7(ATP7A):c.453G>T (p.Gly151=) rs2522290207
NM_000052.7(ATP7A):c.453del (p.Thr152fs) rs1603381331
NM_000052.7(ATP7A):c.459G>A (p.Leu153=)
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp) rs2522252226
NM_000052.7(ATP7A):c.462dup (p.Lys155fs) rs2077652014
NM_000052.7(ATP7A):c.463A>T (p.Lys155Ter) rs2522290228
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs) rs2522290235
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met) rs2149082707
NM_000052.7(ATP7A):c.469_470del (p.Ser157fs) rs2522290244
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys) rs2522252235
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr) rs2522290285
NM_000052.7(ATP7A):c.489T>C (p.His163=)
NM_000052.7(ATP7A):c.48T>G (p.Gly16=) rs2149073819
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys) rs2522290310
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter) rs72554635
NM_000052.7(ATP7A):c.504T>C (p.Ala168=) rs2522290380
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp) rs782485590
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter) rs797027905
NM_000052.7(ATP7A):c.521del (p.Lys174fs) rs2522290436
NM_000052.7(ATP7A):c.523A>G (p.Met175Val) rs782556796
NM_000052.7(ATP7A):c.524T>C (p.Met175Thr)
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter) rs2522290463
NM_000052.7(ATP7A):c.526_529dup (p.Val177fs) rs2522290456
NM_000052.7(ATP7A):c.528A>G (p.Lys176=) rs2149082749
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro) rs1557229679
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala) rs1557229679
NM_000052.7(ATP7A):c.532G>T (p.Glu178Ter) rs782675275
NM_000052.7(ATP7A):c.534A>G (p.Glu178=) rs2077652554
NM_000052.7(ATP7A):c.537G>A (p.Gly179=) rs2522290514
NM_000052.7(ATP7A):c.543C>T (p.Thr181=) rs2522290548
NM_000052.7(ATP7A):c.552A>G (p.Ser184=) rs1557231655
NM_000052.7(ATP7A):c.552A>T (p.Ser184=) rs1557231655
NM_000052.7(ATP7A):c.555T>C (p.Cys185=) rs2522290603
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala) rs1557231656
NM_000052.7(ATP7A):c.557C>T (p.Thr186Ile)
NM_000052.7(ATP7A):c.558T>G (p.Thr186=) rs782204293
NM_000052.7(ATP7A):c.561C>T (p.Ser187=) rs782353477
NM_000052.7(ATP7A):c.57C>T (p.Cys19=) rs145406974
NM_000052.7(ATP7A):c.589C>T (p.Gln197Ter) rs2522290711
NM_000052.7(ATP7A):c.597T>C (p.Val199=) rs2522290721
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu) rs797045399
NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter) rs797045399
NM_000052.7(ATP7A):c.599A>G (p.Gln200Arg)
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 rs2522290795
NM_000052.7(ATP7A):c.610+13G>A rs2522290823
NM_000052.7(ATP7A):c.610+15G>T rs2522290831
NM_000052.7(ATP7A):c.610+18G>T rs1557231674
NM_000052.7(ATP7A):c.610+19A>C rs367724628
NM_000052.7(ATP7A):c.610+2T>C rs2522290776
NM_000052.7(ATP7A):c.610+5T>C
NM_000052.7(ATP7A):c.611-10T>C rs2149083014
NM_000052.7(ATP7A):c.611-16del rs2522292299
NM_000052.7(ATP7A):c.611-1G>C rs2522292394
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 rs1557231729
NM_000052.7(ATP7A):c.611-7T>C rs781898993
NM_000052.7(ATP7A):c.612C>T (p.Val204=) rs2077655830
NM_000052.7(ATP7A):c.615C>T (p.Ser205=)
NM_000052.7(ATP7A):c.616C>T (p.Leu206=) rs2077655849
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg) rs2149083027
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro) rs2522252303
NM_000052.7(ATP7A):c.641T>C (p.Val214Ala) rs2522292530
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs) rs2522292613
NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr) rs2149083046
NM_000052.7(ATP7A):c.659_663del (p.Ile220fs) rs2522292654
NM_000052.7(ATP7A):c.659_666del (p.Ile220fs) rs2522292644
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr) rs2077548143
NM_000052.7(ATP7A):c.674T>A (p.Met225Lys) rs2522292707
NM_000052.7(ATP7A):c.675G>A (p.Met225Ile) rs2522292719
NM_000052.7(ATP7A):c.678A>G (p.Lys226=) rs2522292734
NM_000052.7(ATP7A):c.67G>A (p.Val23Ile) rs2522252336
NM_000052.7(ATP7A):c.687T>C (p.Ile229=) rs2522292774
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp) rs2522292797
NM_000052.7(ATP7A):c.693del (p.Met232fs) rs2522292816
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr) rs2149083058
NM_000052.7(ATP7A):c.69T>G (p.Val23=) rs2522252345
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu) rs2077656290
NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs) rs2522292860
NM_000052.7(ATP7A):c.707C>T (p.Ala236Val)
NM_000052.7(ATP7A):c.714C>A (p.Val238=) rs2149083069
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn) rs2522292959
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu) rs1472178956
NM_000052.7(ATP7A):c.721C>T (p.Gln241Ter) rs1472178956
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg) rs2522293013
NM_000052.7(ATP7A):c.729G>T (p.Lys243Asn) rs782326318
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile) rs184646064
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser) rs2077656502
NM_000052.7(ATP7A):c.748A>C (p.Ile250Leu) rs1189996419
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn) rs2077656577
NM_000052.7(ATP7A):c.753T>C (p.Asp251=) rs2149083096
NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs) rs2522293121
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile) rs2522293129
NM_000052.7(ATP7A):c.756A>G (p.Val252=) rs2522293137
NM_000052.7(ATP7A):c.774A>G (p.Thr258=) rs2522293188
NM_000052.7(ATP7A):c.776del (p.Pro259fs)
NM_000052.7(ATP7A):c.778G>A (p.Val260Ile)
NM_000052.7(ATP7A):c.783A>G (p.Lys261=) rs782136601
NM_000052.7(ATP7A):c.789A>G (p.Ser263=) rs2077656778
NM_000052.7(ATP7A):c.798A>G (p.Ser266=) rs2522293270
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg) rs2522293279
NM_000052.7(ATP7A):c.801G>A (p.Gln267=) rs1473778935
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) rs368147403
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) rs2522293391
NM_000052.7(ATP7A):c.833C>T (p.Thr278Ile)
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp) rs1557231787
NM_000052.7(ATP7A):c.837C>T (p.Ala279=) rs1007555840
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu) rs782146244
NM_000052.7(ATP7A):c.843C>T (p.Phe281=) rs1039952708
NM_000052.7(ATP7A):c.849T>A (p.Ile283=) rs782773745
NM_000052.7(ATP7A):c.850G>A (p.Asp284Asn)
NM_000052.7(ATP7A):c.854G>A (p.Gly285Asp)
NM_000052.7(ATP7A):c.860A>G (p.His287Arg) rs1283120002
NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro) rs2522293555
NM_000052.7(ATP7A):c.870A>C (p.Ser290=) rs2077657312
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs) rs2522293582
NM_000052.7(ATP7A):c.876del (p.Ser293fs) rs797045400
NM_000052.7(ATP7A):c.885T>C (p.Ile295=) rs781806374
NM_000052.7(ATP7A):c.890del (p.Ser297fs) rs2522293695
NM_000052.7(ATP7A):c.897del (p.Leu299fs) rs2522293717
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro) rs2522293729
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys) rs2077657477
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.905T>C (p.Leu302Pro)
NM_000052.7(ATP7A):c.906C>T (p.Leu302=) rs2522293767
NM_000052.7(ATP7A):c.907C>T (p.Gln303Ter)
NM_000052.7(ATP7A):c.90T>G (p.Ile30Met) rs2149073867
NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly) rs2522293842
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met) rs2522293888
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=) rs782303499
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) rs2522294013
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr) rs2149083223
NM_000052.7(ATP7A):c.973_974del (p.Val326fs) rs2522294115
NM_000052.7(ATP7A):c.978C>T (p.Val326=) rs2522294131
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu) rs2077548355
NM_004836.7(EIF2AK3):c.2045G>A (p.Trp682Ter) rs2104412272

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