NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=)
|
rs116344406
|
0.00241
|
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)
|
rs148601288
|
0.00153
|
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)
|
rs144320036
|
0.00104
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)
|
rs148410446
|
0.00085
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)
|
rs138154934
|
0.00078
|
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala)
|
rs150745395
|
0.00071
|
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)
|
rs374052426
|
0.00070
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile)
|
rs563376340
|
0.00061
|
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=)
|
rs144817331
|
0.00057
|
NM_016938.5(EFEMP2):c.570G>A (p.Pro190=)
|
rs145853251
|
0.00048
|
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=)
|
rs140946753
|
0.00045
|
NM_030777.4(SLC2A10):c.1548-19C>T
|
rs144623242
|
0.00044
|
NM_016938.5(EFEMP2):c.1170+17C>T
|
rs200146991
|
0.00043
|
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)
|
rs150526956
|
0.00042
|
NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr)
|
rs150429857
|
0.00042
|
NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn)
|
rs142402955
|
0.00034
|
NM_030777.4(SLC2A10):c.1289-6C>T
|
rs199967429
|
0.00033
|
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)
|
rs150472102
|
0.00032
|
NM_002860.4(ALDH18A1):c.933+13T>C
|
rs201520042
|
0.00032
|
NM_030777.4(SLC2A10):c.696C>G (p.Thr232=)
|
rs138679634
|
0.00029
|
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)
|
rs139932041
|
0.00026
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln)
|
rs782349186
|
0.00025
|
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
|
rs781786942
|
0.00024
|
NM_002860.4(ALDH18A1):c.1153-13A>G
|
rs370680325
|
0.00024
|
NM_002860.4(ALDH18A1):c.76G>A (p.Val26Ile)
|
rs200242907
|
0.00024
|
NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser)
|
rs139117495
|
0.00024
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
NM_002860.4(ALDH18A1):c.1253T>A (p.Leu418His)
|
rs201069261
|
0.00022
|
NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=)
|
rs2234471
|
0.00022
|
NM_002860.4(ALDH18A1):c.37T>A (p.Phe13Ile)
|
rs376664715
|
0.00021
|
NM_002860.4(ALDH18A1):c.96C>A (p.Ile32=)
|
rs11541779
|
0.00020
|
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=)
|
rs370173604
|
0.00019
|
NM_030777.4(SLC2A10):c.1593G>A (p.Pro531=)
|
rs148424607
|
0.00019
|
NM_016938.5(EFEMP2):c.810A>G (p.Pro270=)
|
rs150546623
|
0.00017
|
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)
|
rs377714939
|
0.00016
|
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)
|
rs142509316
|
0.00016
|
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)
|
rs181500247
|
0.00016
|
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu)
|
rs149576827
|
0.00015
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
NM_030777.4(SLC2A10):c.315C>T (p.Arg105=)
|
rs150800734
|
0.00015
|
NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg)
|
rs143635402
|
0.00014
|
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=)
|
rs369627072
|
0.00014
|
NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=)
|
rs112355691
|
0.00012
|
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)
|
rs370141550
|
0.00012
|
NM_000052.7(ATP7A):c.3659-12C>T
|
rs1012193744
|
0.00011
|
NM_002860.4(ALDH18A1):c.1152+8_1152+9del
|
rs373488364
|
0.00011
|
NM_016938.5(EFEMP2):c.975-11G>A
|
rs376275864
|
0.00011
|
NM_030777.4(SLC2A10):c.1547+19G>A
|
rs546525339
|
0.00011
|
NM_002860.4(ALDH18A1):c.219C>T (p.Ile73=)
|
rs148228931
|
0.00010
|
NM_002860.4(ALDH18A1):c.4T>C (p.Leu2=)
|
rs755446179
|
0.00010
|
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)
|
rs199848479
|
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_016938.5(EFEMP2):c.531C>T (p.Cys177=)
|
rs762305922
|
0.00009
|
NM_016938.5(EFEMP2):c.882C>T (p.Cys294=)
|
rs371712739
|
0.00009
|
NM_000052.7(ATP7A):c.1947-3A>G
|
rs782237008
|
0.00008
|
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val)
|
rs782351352
|
0.00008
|
NM_002860.4(ALDH18A1):c.678C>T (p.Val226=)
|
rs772829720
|
0.00008
|
NM_030777.4(SLC2A10):c.1344C>T (p.Phe448=)
|
rs553831434
|
0.00008
|
NM_030777.4(SLC2A10):c.162G>C (p.Leu54=)
|
rs778830075
|
0.00008
|
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)
|
rs782290331
|
0.00007
|
NM_016938.5(EFEMP2):c.727+11C>T
|
rs369000940
|
0.00007
|
NM_016938.5(EFEMP2):c.847+13C>T
|
rs762497696
|
0.00007
|
NM_016938.5(EFEMP2):c.975-15C>T
|
rs768211662
|
0.00007
|
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn)
|
rs573480396
|
0.00007
|
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile)
|
rs763889166
|
0.00007
|
NM_030777.4(SLC2A10):c.792T>C (p.His264=)
|
rs377031320
|
0.00007
|
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=)
|
rs149841982
|
0.00006
|
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)
|
rs372898963
|
0.00006
|
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln)
|
rs782729433
|
0.00006
|
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)
|
rs782166627
|
0.00006
|
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val)
|
rs1189996419
|
0.00006
|
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser)
|
rs368147403
|
0.00006
|
NM_002860.4(ALDH18A1):c.1467+16G>A
|
rs371225175
|
0.00006
|
NM_002860.4(ALDH18A1):c.1568C>T (p.Ala523Val)
|
rs529294368
|
0.00006
|
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=)
|
rs200730342
|
0.00006
|
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)
|
rs143874727
|
0.00006
|
NM_016938.5(EFEMP2):c.1056G>A (p.Ser352=)
|
rs769127200
|
0.00006
|
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=)
|
rs746343857
|
0.00006
|
NM_016938.5(EFEMP2):c.864G>A (p.Glu288=)
|
rs759514025
|
0.00006
|
NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=)
|
rs774586341
|
0.00006
|
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)
|
rs142639587
|
0.00006
|
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=)
|
rs148470005
|
0.00006
|
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)
|
rs75218052
|
0.00006
|
NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser)
|
rs755339268
|
0.00006
|
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)
|
rs372596900
|
0.00006
|
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=)
|
rs781950759
|
0.00005
|
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn)
|
rs781927920
|
0.00005
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
|
rs207478437
|
0.00005
|
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu)
|
rs782566688
|
0.00005
|
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn)
|
rs1057520234
|
0.00005
|
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)
|
rs782475540
|
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_016938.5(EFEMP2):c.111+17C>G
|
rs768070943
|
0.00005
|
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=)
|
rs779614307
|
0.00005
|
NM_016938.5(EFEMP2):c.498C>T (p.Asp166=)
|
rs757273990
|
0.00005
|
NM_016938.5(EFEMP2):c.607+10G>T
|
rs774887200
|
0.00005
|
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=)
|
rs376042813
|
0.00004
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=)
|
rs139000596
|
0.00004
|
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=)
|
rs377355446
|
0.00004
|
NM_000052.7(ATP7A):c.2172+7G>T
|
rs782433802
|
0.00004
|
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=)
|
rs1307515001
|
0.00004
|
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=)
|
rs1325311308
|
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.4305C>T (p.Ser1435=)
|
rs146052682
|
0.00004
|
NM_000052.7(ATP7A):c.729G>A (p.Lys243=)
|
rs782326318
|
0.00004
|
NM_002860.4(ALDH18A1):c.1014C>T (p.His338=)
|
rs150056435
|
0.00004
|
NM_002860.4(ALDH18A1):c.1078+17A>G
|
rs745857450
|
0.00004
|
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=)
|
rs369979669
|
0.00004
|
NM_002860.4(ALDH18A1):c.1485C>T (p.Ile495=)
|
rs777125038
|
0.00004
|
NM_002860.4(ALDH18A1):c.2206+17T>C
|
rs200513474
|
0.00004
|
NM_002860.4(ALDH18A1):c.240C>T (p.Ala80=)
|
rs1016828034
|
0.00004
|
NM_002860.4(ALDH18A1):c.27G>C (p.Gly9=)
|
rs368431558
|
0.00004
|
NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=)
|
rs767594147
|
0.00004
|
NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=)
|
rs745705105
|
0.00004
|
NM_016938.5(EFEMP2):c.1110C>T (p.Pro370=)
|
rs146180527
|
0.00004
|
NM_016938.5(EFEMP2):c.1182C>T (p.Asn394=)
|
rs1466076983
|
0.00004
|
NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=)
|
rs148302546
|
0.00004
|
NM_016938.5(EFEMP2):c.12C>T (p.Cys4=)
|
rs1196692310
|
0.00004
|
NM_016938.5(EFEMP2):c.267C>T (p.Asn89=)
|
rs572217864
|
0.00004
|
NM_016938.5(EFEMP2):c.273A>G (p.Leu91=)
|
rs770791862
|
0.00004
|
NM_016938.5(EFEMP2):c.34C>T (p.Leu12=)
|
rs990066080
|
0.00004
|
NM_016938.5(EFEMP2):c.396C>T (p.His132=)
|
rs545330660
|
0.00004
|
NM_016938.5(EFEMP2):c.783G>A (p.Glu261=)
|
rs779131358
|
0.00004
|
NM_016938.5(EFEMP2):c.974+12C>T
|
rs772378278
|
0.00004
|
NM_030777.4(SLC2A10):c.1203C>T (p.Pro401=)
|
rs368021257
|
0.00004
|
NM_030777.4(SLC2A10):c.1234G>A (p.Ala412Thr)
|
rs746203433
|
0.00004
|
NM_030777.4(SLC2A10):c.807C>T (p.Ala269=)
|
rs144705080
|
0.00004
|
NM_030777.4(SLC2A10):c.924C>T (p.Ala308=)
|
rs377173165
|
0.00004
|
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser)
|
rs372780635
|
0.00003
|
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln)
|
rs201763950
|
0.00003
|
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly)
|
rs1557232788
|
0.00003
|
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=)
|
rs1297787618
|
0.00003
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
NM_000052.7(ATP7A):c.1870-12G>T
|
rs1203434891
|
0.00003
|
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys)
|
rs781837620
|
0.00003
|
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His)
|
rs782174967
|
0.00003
|
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val)
|
rs782430502
|
0.00003
|
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val)
|
rs782513950
|
0.00003
|
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser)
|
rs782764064
|
0.00003
|
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly)
|
rs782231801
|
0.00003
|
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val)
|
rs781866452
|
0.00003
|
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr)
|
rs936157944
|
0.00003
|
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys)
|
rs1280037924
|
0.00003
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
NM_000052.7(ATP7A):c.984A>G (p.Pro328=)
|
rs2077657952
|
0.00003
|
NM_002860.4(ALDH18A1):c.1110G>A (p.Ala370=)
|
rs558532112
|
0.00003
|
NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg)
|
rs774081826
|
0.00003
|
NM_002860.4(ALDH18A1):c.1380C>T (p.Ile460=)
|
rs770247123
|
0.00003
|
NM_002860.4(ALDH18A1):c.1467+15C>T
|
rs374652686
|
0.00003
|
NM_002860.4(ALDH18A1):c.2040C>T (p.Asn680=)
|
rs145806693
|
0.00003
|
NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=)
|
rs753837028
|
0.00003
|
NM_002860.4(ALDH18A1):c.933+14G>A
|
rs546156675
|
0.00003
|
NM_002860.4(ALDH18A1):c.948C>T (p.Leu316=)
|
rs769800738
|
0.00003
|
NM_016938.5(EFEMP2):c.873G>A (p.Ala291=)
|
rs140784880
|
0.00003
|
NM_030777.4(SLC2A10):c.1377C>T (p.Asn459=)
|
rs756207829
|
0.00003
|
NM_030777.4(SLC2A10):c.1446C>T (p.Tyr482=)
|
rs150398871
|
0.00003
|
NM_030777.4(SLC2A10):c.1566C>T (p.Gly522=)
|
rs1980421137
|
0.00003
|
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=)
|
rs886056727
|
0.00003
|
NM_030777.4(SLC2A10):c.189G>C (p.Leu63=)
|
rs890578209
|
0.00003
|
NM_030777.4(SLC2A10):c.306C>T (p.Val102=)
|
rs530216827
|
0.00003
|
NM_030777.4(SLC2A10):c.948C>T (p.Leu316=)
|
rs755109002
|
0.00003
|
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu)
|
rs1557231845
|
0.00002
|
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu)
|
rs782651571
|
0.00002
|
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser)
|
rs879981699
|
0.00002
|
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn)
|
rs782083382
|
0.00002
|
NM_000052.7(ATP7A):c.1543+9C>G
|
rs367977602
|
0.00002
|
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)
|
rs781952393
|
0.00002
|
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=)
|
rs375479026
|
0.00002
|
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val)
|
rs782444523
|
0.00002
|
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)
|
rs781959472
|
0.00002
|
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val)
|
rs781961626
|
0.00002
|
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=)
|
rs781957241
|
0.00002
|
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp)
|
rs782761381
|
0.00002
|
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met)
|
rs782269377
|
0.00002
|
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys)
|
rs782555092
|
0.00002
|
NM_000052.7(ATP7A):c.2173-7A>T
|
rs376179410
|
0.00002
|
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=)
|
rs572956005
|
0.00002
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
0.00002
|
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=)
|
rs1473914623
|
0.00002
|
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=)
|
rs1445955792
|
0.00002
|
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=)
|
rs782315761
|
0.00002
|
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg)
|
rs1264242478
|
0.00002
|
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)
|
rs1427317043
|
0.00002
|
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)
|
rs146119866
|
0.00002
|
NM_000052.7(ATP7A):c.2916+10T>G
|
rs2077902893
|
0.00002
|
NM_000052.7(ATP7A):c.2917-9C>T
|
rs188421674
|
0.00002
|
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met)
|
rs782094358
|
0.00002
|
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile)
|
rs782647620
|
0.00002
|
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val)
|
rs782463394
|
0.00002
|
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly)
|
rs781914030
|
0.00002
|
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=)
|
rs1179465472
|
0.00002
|
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)
|
rs1557238006
|
0.00002
|
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn)
|
rs1374099672
|
0.00002
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)
|
rs782428979
|
0.00002
|
NM_000052.7(ATP7A):c.4006-7T>C
|
rs1406270253
|
0.00002
|
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg)
|
rs781912153
|
0.00002
|
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr)
|
rs781912401
|
0.00002
|
NM_000052.7(ATP7A):c.4124-17C>T
|
rs371435031
|
0.00002
|
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)
|
rs782346811
|
0.00002
|
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)
|
rs782232632
|
0.00002
|
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
|
rs782364202
|
0.00002
|
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=)
|
rs1557239138
|
0.00002
|
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr)
|
rs781838499
|
0.00002
|
NM_000052.7(ATP7A):c.588G>A (p.Leu196=)
|
rs782253237
|
0.00002
|
NM_000052.7(ATP7A):c.611-7T>C
|
rs781898993
|
0.00002
|
NM_000052.7(ATP7A):c.6T>C (p.Asp2=)
|
rs951178780
|
0.00002
|
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His)
|
rs1557231780
|
0.00002
|
NM_000052.7(ATP7A):c.840T>G (p.Thr280=)
|
rs782713333
|
0.00002
|
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
|
rs372389715
|
0.00002
|
NM_002860.4(ALDH18A1):c.183C>T (p.Phe61=)
|
rs375400820
|
0.00002
|
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=)
|
rs1002367939
|
0.00002
|
NM_002860.4(ALDH18A1):c.231C>T (p.Leu77=)
|
rs1278292461
|
0.00002
|
NM_002860.4(ALDH18A1):c.2361C>T (p.Leu787=)
|
rs377506019
|
0.00002
|
NM_002860.4(ALDH18A1):c.454-9A>G
|
rs775098819
|
0.00002
|
NM_002860.4(ALDH18A1):c.465C>T (p.Val155=)
|
rs545084277
|
0.00002
|
NM_002860.4(ALDH18A1):c.966C>T (p.Gly322=)
|
rs754882491
|
0.00002
|
NM_016938.5(EFEMP2):c.1203C>T (p.Leu401=)
|
rs374950957
|
0.00002
|
NM_016938.5(EFEMP2):c.160+8T>C
|
rs1441745834
|
0.00002
|
NM_016938.5(EFEMP2):c.368-5C>T
|
rs201248112
|
0.00002
|
NM_016938.5(EFEMP2):c.375C>T (p.Asp125=)
|
rs758495680
|
0.00002
|
NM_016938.5(EFEMP2):c.54A>G (p.Leu18=)
|
rs367928701
|
0.00002
|
NM_030777.4(SLC2A10):c.1299T>C (p.Leu433=)
|
rs879632885
|
0.00002
|
NM_030777.4(SLC2A10):c.1412-13C>T
|
rs371888996
|
0.00002
|
NM_030777.4(SLC2A10):c.1536C>T (p.Phe512=)
|
rs745307904
|
0.00002
|
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu)
|
rs777604168
|
0.00002
|
NM_030777.4(SLC2A10):c.915C>T (p.Ala305=)
|
rs199975775
|
0.00002
|
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=)
|
rs374656309
|
0.00001
|
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr)
|
rs368982547
|
0.00001
|
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser)
|
rs1557231866
|
0.00001
|
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val)
|
rs1349223430
|
0.00001
|
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=)
|
rs147225045
|
0.00001
|
NM_000052.7(ATP7A):c.121-12T>C
|
rs1557231556
|
0.00001
|
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val)
|
rs782815622
|
0.00001
|
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr)
|
rs1557231909
|
0.00001
|
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser)
|
rs782505393
|
0.00001
|
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe)
|
rs782635238
|
0.00001
|
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly)
|
rs782530774
|
0.00001
|
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met)
|
rs782018636
|
0.00001
|
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=)
|
rs143036870
|
0.00001
|
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=)
|
rs782148279
|
0.00001
|
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
|
rs1227094533
|
0.00001
|
NM_000052.7(ATP7A):c.1337-5A>G
|
rs371146030
|
0.00001
|
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=)
|
rs782292643
|
0.00001
|
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)
|
rs781964005
|
0.00001
|
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala)
|
rs782416233
|
0.00001
|
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly)
|
rs781834607
|
0.00001
|
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=)
|
rs782495317
|
0.00001
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
|
rs368355216
|
0.00001
|
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly)
|
rs1557233359
|
0.00001
|
NM_000052.7(ATP7A):c.1590A>G (p.Val530=)
|
rs1557233367
|
0.00001
|
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=)
|
rs1056057247
|
0.00001
|
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln)
|
rs782491733
|
0.00001
|
NM_000052.7(ATP7A):c.168A>G (p.Leu56=)
|
rs782612734
|
0.00001
|
NM_000052.7(ATP7A):c.1707+16T>C
|
rs1557233398
|
0.00001
|
NM_000052.7(ATP7A):c.1708-9C>G
|
rs1557234077
|
0.00001
|
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)
|
rs371777895
|
0.00001
|
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val)
|
rs375103934
|
0.00001
|
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His)
|
rs782764596
|
0.00001
|
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu)
|
rs781872960
|
0.00001
|
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val)
|
rs1318638094
|
0.00001
|
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=)
|
rs782299586
|
0.00001
|
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=)
|
rs782315947
|
0.00001
|
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)
|
rs1557234412
|
0.00001
|
NM_000052.7(ATP7A):c.1946+11T>C
|
rs1557234428
|
0.00001
|
NM_000052.7(ATP7A):c.1947-5A>G
|
rs1557234466
|
0.00001
|
NM_000052.7(ATP7A):c.1947-7A>G
|
rs2077824853
|
0.00001
|
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn)
|
rs782629836
|
0.00001
|
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu)
|
rs781792854
|
0.00001
|
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)
|
rs782455461
|
0.00001
|
NM_000052.7(ATP7A):c.204C>T (p.Asp68=)
|
rs1557231573
|
0.00001
|
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu)
|
rs1557234510
|
0.00001
|
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=)
|
rs1318545869
|
0.00001
|
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
|
rs2234936
|
0.00001
|
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=)
|
rs782037158
|
0.00001
|
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val)
|
rs1557234537
|
0.00001
|
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu)
|
rs1557234543
|
0.00001
|
NM_000052.7(ATP7A):c.219T>C (p.Ala73=)
|
rs1557231581
|
0.00001
|
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu)
|
rs782240491
|
0.00001
|
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr)
|
rs782389012
|
0.00001
|
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn)
|
rs782293297
|
0.00001
|
NM_000052.7(ATP7A):c.2253G>A (p.Val751=)
|
rs782375469
|
0.00001
|
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val)
|
rs1157086859
|
0.00001
|
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val)
|
rs1557234739
|
0.00001
|
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp)
|
rs1443260520
|
0.00001
|
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=)
|
rs2077838145
|
0.00001
|
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=)
|
rs1557234754
|
0.00001
|
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val)
|
rs782770209
|
0.00001
|
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)
|
rs1557234931
|
0.00001
|
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=)
|
rs781953495
|
0.00001
|
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=)
|
rs368261204
|
0.00001
|
NM_000052.7(ATP7A):c.2499-9T>C
|
rs1557235070
|
0.00001
|
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=)
|
rs1420350554
|
0.00001
|
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=)
|
rs781950120
|
0.00001
|
NM_000052.7(ATP7A):c.255T>C (p.Thr85=)
|
rs1557231589
|
0.00001
|
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=)
|
rs1557235088
|
0.00001
|
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys)
|
rs781892236
|
0.00001
|
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=)
|
rs1557235097
|
0.00001
|
NM_000052.7(ATP7A):c.2627-17C>T
|
rs782200911
|
0.00001
|
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=)
|
rs781928048
|
0.00001
|
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=)
|
rs1557235606
|
0.00001
|
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=)
|
rs1396353749
|
0.00001
|
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile)
|
rs369335432
|
0.00001
|
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=)
|
rs1557235619
|
0.00001
|
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu)
|
rs782225818
|
0.00001
|
NM_000052.7(ATP7A):c.2865A>G (p.Val955=)
|
rs1557235728
|
0.00001
|
NM_000052.7(ATP7A):c.2917-7T>C
|
rs376898023
|
0.00001
|
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp)
|
rs1557236695
|
0.00001
|
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)
|
rs1557236698
|
0.00001
|
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala)
|
rs782480109
|
0.00001
|
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)
|
rs181435872
|
0.00001
|
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=)
|
rs371089220
|
0.00001
|
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)
|
rs1057518370
|
0.00001
|
NM_000052.7(ATP7A):c.318A>G (p.Thr106=)
|
rs781851530
|
0.00001
|
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=)
|
rs2077983590
|
0.00001
|
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=)
|
rs1557237065
|
0.00001
|
NM_000052.7(ATP7A):c.3294+10T>A
|
rs2077984363
|
0.00001
|
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser)
|
rs782066060
|
0.00001
|
NM_000052.7(ATP7A):c.330C>A (p.Thr110=)
|
rs1557231608
|
0.00001
|
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn)
|
rs782548907
|
0.00001
|
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val)
|
rs371409820
|
0.00001
|
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly)
|
rs1363235909
|
0.00001
|
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln)
|
rs782435305
|
0.00001
|
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=)
|
rs1391918882
|
0.00001
|
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)
|
rs782026169
|
0.00001
|
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=)
|
rs782173299
|
0.00001
|
NM_000052.7(ATP7A):c.3659-5A>G
|
rs1557238245
|
0.00001
|
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
|
rs782664232
|
0.00001
|
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=)
|
rs1557238252
|
0.00001
|
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)
|
rs1557238254
|
0.00001
|
NM_000052.7(ATP7A):c.3802-9A>G
|
rs1557238565
|
0.00001
|
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=)
|
rs895520660
|
0.00001
|
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu)
|
rs782628250
|
0.00001
|
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=)
|
rs782582761
|
0.00001
|
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=)
|
rs781872987
|
0.00001
|
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=)
|
rs1271447006
|
0.00001
|
NM_000052.7(ATP7A):c.4005+10A>G
|
rs782188201
|
0.00001
|
NM_000052.7(ATP7A):c.4006-11T>A
|
rs1325784914
|
0.00001
|
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val)
|
rs782161783
|
0.00001
|
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=)
|
rs781939808
|
0.00001
|
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu)
|
rs1557231629
|
0.00001
|
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser)
|
rs189818149
|
0.00001
|
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=)
|
rs2078077936
|
0.00001
|
NM_000052.7(ATP7A):c.4227-12del
|
rs1557239080
|
0.00001
|
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=)
|
rs990337633
|
0.00001
|
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=)
|
rs1569550372
|
0.00001
|
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg)
|
rs1557239111
|
0.00001
|
NM_000052.7(ATP7A):c.4311T>C (p.His1437=)
|
rs782541211
|
0.00001
|
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp)
|
rs1557239117
|
0.00001
|
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)
|
rs1457236338
|
0.00001
|
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His)
|
rs782272603
|
0.00001
|
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
|
rs782062633
|
0.00001
|
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys)
|
rs1557239144
|
0.00001
|
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)
|
rs782799150
|
0.00001
|
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=)
|
rs1557239148
|
0.00001
|
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=)
|
rs782053901
|
0.00001
|
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu)
|
rs782716555
|
0.00001
|
NM_000052.7(ATP7A):c.498T>C (p.Ala166=)
|
rs782701351
|
0.00001
|
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp)
|
rs782485590
|
0.00001
|
NM_000052.7(ATP7A):c.513C>T (p.Val171=)
|
rs782643553
|
0.00001
|
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)
|
rs782248978
|
0.00001
|
NM_000052.7(ATP7A):c.531G>A (p.Val177=)
|
rs1557231650
|
0.00001
|
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys)
|
rs782675275
|
0.00001
|
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro)
|
rs1557231656
|
0.00001
|
NM_000052.7(ATP7A):c.579T>A (p.Ile193=)
|
rs2077652795
|
0.00001
|
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser)
|
rs1557231670
|
0.00001
|
NM_000052.7(ATP7A):c.611-4C>T
|
rs1287080060
|
0.00001
|
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile)
|
rs1557231734
|
0.00001
|
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys)
|
rs374855698
|
0.00001
|
NM_000052.7(ATP7A):c.807G>A (p.Arg269=)
|
rs868946047
|
0.00001
|
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)
|
rs782146244
|
0.00001
|
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu)
|
rs1039952708
|
0.00001
|
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg)
|
rs782449900
|
0.00001
|
NM_000052.7(ATP7A):c.933T>C (p.Ser311=)
|
rs782638418
|
0.00001
|
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=)
|
rs1557231829
|
0.00001
|
NM_002860.4(ALDH18A1):c.1041G>A (p.Lys347=)
|
rs2097862079
|
0.00001
|
NM_002860.4(ALDH18A1):c.1247-19C>G
|
rs772575442
|
0.00001
|
NM_002860.4(ALDH18A1):c.1320G>A (p.Leu440=)
|
rs537092003
|
0.00001
|
NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=)
|
rs771965130
|
0.00001
|
NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=)
|
rs368774840
|
0.00001
|
NM_002860.4(ALDH18A1):c.2034G>A (p.Val678=)
|
rs1328125928
|
0.00001
|
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=)
|
rs773545430
|
0.00001
|
NM_002860.4(ALDH18A1):c.378C>T (p.Arg126=)
|
rs773835343
|
0.00001
|
NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)
|
rs201428777
|
0.00001
|
NM_002860.4(ALDH18A1):c.559-19A>G
|
rs776600555
|
0.00001
|
NM_002860.4(ALDH18A1):c.75C>T (p.Thr25=)
|
rs759465204
|
0.00001
|
NM_002860.4(ALDH18A1):c.809-12T>C
|
rs777274822
|
0.00001
|
NM_002860.4(ALDH18A1):c.934-7T>A
|
rs772389382
|
0.00001
|
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=)
|
rs751578810
|
0.00001
|
NM_016938.5(EFEMP2):c.1003C>T (p.Leu335=)
|
rs765442560
|
0.00001
|
NM_016938.5(EFEMP2):c.112-4C>A
|
rs900644594
|
0.00001
|
NM_016938.5(EFEMP2):c.1207C>A (p.Arg403=)
|
rs765684268
|
0.00001
|
NM_016938.5(EFEMP2):c.1221C>A (p.Gly407=)
|
rs767083801
|
0.00001
|
NM_016938.5(EFEMP2):c.1305C>T (p.Thr435=)
|
rs1260193001
|
0.00001
|
NM_016938.5(EFEMP2):c.186T>C (p.Pro62=)
|
rs745699648
|
0.00001
|
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=)
|
rs928050535
|
0.00001
|
NM_016938.5(EFEMP2):c.252C>T (p.Ser84=)
|
rs767033176
|
0.00001
|
NM_016938.5(EFEMP2):c.423T>C (p.His141=)
|
rs1314192173
|
0.00001
|
NM_016938.5(EFEMP2):c.600C>A (p.Ser200=)
|
rs1032092509
|
0.00001
|
NM_016938.5(EFEMP2):c.607+18C>A
|
rs571631117
|
0.00001
|
NM_016938.5(EFEMP2):c.615C>T (p.Asn205=)
|
rs760174107
|
0.00001
|
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=)
|
rs199606204
|
0.00001
|
NM_016938.5(EFEMP2):c.651C>T (p.Cys217=)
|
rs765884191
|
0.00001
|
NM_016938.5(EFEMP2):c.657C>T (p.Asn219=)
|
rs1372273571
|
0.00001
|
NM_016938.5(EFEMP2):c.699G>A (p.Glu233=)
|
rs1206569334
|
0.00001
|
NM_016938.5(EFEMP2):c.741T>C (p.Cys247=)
|
rs1200560839
|
0.00001
|
NM_016938.5(EFEMP2):c.756C>T (p.Tyr252=)
|
rs1391116927
|
0.00001
|
NM_016938.5(EFEMP2):c.768C>T (p.Tyr256=)
|
rs1591066103
|
0.00001
|
NM_016938.5(EFEMP2):c.847+20G>A
|
rs759195625
|
0.00001
|
NM_016938.5(EFEMP2):c.848-11C>T
|
rs776698728
|
0.00001
|
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=)
|
rs766494495
|
0.00001
|
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)
|
rs1301992983
|
0.00001
|
NM_030777.4(SLC2A10):c.1110T>C (p.Thr370=)
|
rs760859018
|
0.00001
|
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu)
|
rs755654519
|
0.00001
|
NM_030777.4(SLC2A10):c.120T>C (p.Phe40=)
|
rs202176956
|
0.00001
|
NM_030777.4(SLC2A10):c.1233C>T (p.Thr411=)
|
rs778452693
|
0.00001
|
NM_030777.4(SLC2A10):c.1269C>T (p.Phe423=)
|
rs1057524067
|
0.00001
|
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)
|
rs201159437
|
0.00001
|
NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=)
|
rs558894862
|
0.00001
|
NM_030777.4(SLC2A10):c.1411+12C>T
|
rs762576278
|
0.00001
|
NM_030777.4(SLC2A10):c.1437C>T (p.Phe479=)
|
rs1457956300
|
0.00001
|
NM_030777.4(SLC2A10):c.1455C>T (p.Thr485=)
|
rs1285063741
|
0.00001
|
NM_030777.4(SLC2A10):c.1497A>G (p.Glu499=)
|
rs780076629
|
0.00001
|
NM_030777.4(SLC2A10):c.1518A>G (p.Ala506=)
|
rs548796220
|
0.00001
|
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=)
|
rs371988251
|
0.00001
|
NM_030777.4(SLC2A10):c.195T>A (p.Gly65=)
|
rs1002286842
|
0.00001
|
NM_030777.4(SLC2A10):c.252G>A (p.Val84=)
|
rs878855129
|
0.00001
|
NM_030777.4(SLC2A10):c.264C>G (p.Gly88=)
|
rs768512276
|
0.00001
|
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)
|
rs371344477
|
0.00001
|
NM_030777.4(SLC2A10):c.633G>A (p.Pro211=)
|
rs770919957
|
0.00001
|
NM_030777.4(SLC2A10):c.666C>T (p.Phe222=)
|
rs776448517
|
0.00001
|
NM_030777.4(SLC2A10):c.681C>T (p.Asn227=)
|
rs201625851
|
0.00001
|
NM_030777.4(SLC2A10):c.720C>A (p.Leu240=)
|
rs374985824
|
0.00001
|
NM_030777.4(SLC2A10):c.810G>C (p.Val270=)
|
rs774452914
|
0.00001
|
NM_030777.4(SLC2A10):c.858C>T (p.Thr286=)
|
rs758420381
|
0.00001
|
NM_030777.4(SLC2A10):c.861C>G (p.Ala287=)
|
rs747254570
|
0.00001
|
NM_030777.4(SLC2A10):c.873G>A (p.Val291=)
|
rs755197578
|
0.00001
|
NM_030777.4(SLC2A10):c.960C>T (p.Ala320=)
|
rs369162285
|
0.00001
|
NM_030777.4(SLC2A10):c.9C>T (p.His3=)
|
rs1423610543
|
0.00001
|
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
|
|
|
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)
|
|
|
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=)
|
|
|
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=)
|
rs374656309
|
|
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=)
|
|
|
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
|
|
|
NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
|
|
|
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala)
|
rs1557231859
|
|
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
|
|
|
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
|
|
|
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=)
|
rs2149083275
|
|
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=)
|
|
|
NM_000052.7(ATP7A):c.108G>A (p.Val36=)
|
rs2149073882
|
|
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile)
|
|
|
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=)
|
|
|
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=)
|
rs2149083320
|
|
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
|
|
|
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
|
|
|
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=)
|
rs2149083338
|
|
NM_000052.7(ATP7A):c.1176G>A (p.Val392=)
|
rs2149083343
|
|
NM_000052.7(ATP7A):c.117T>A (p.Ile39=)
|
|
|
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=)
|
rs2149083355
|
|
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val)
|
|
|
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr)
|
|
|
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=)
|
rs2149083372
|
|
NM_000052.7(ATP7A):c.120+14T>C
|
|
|
NM_000052.7(ATP7A):c.120+15G>A
|
|
|
NM_000052.7(ATP7A):c.120+20C>T
|
|
|
NM_000052.7(ATP7A):c.120+7T>C
|
rs2149073895
|
|
NM_000052.7(ATP7A):c.120+8A>T
|
|
|
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)
|
|
|
NM_000052.7(ATP7A):c.121-12T>G
|
|
|
NM_000052.7(ATP7A):c.121-2del
|
rs1287511385
|
|
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
|
rs781846400
|
|
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
|
|
|
NM_000052.7(ATP7A):c.1257T>G (p.Val419=)
|
|
|
NM_000052.7(ATP7A):c.126A>G (p.Ser42=)
|
rs2149082519
|
|
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
|
|
|
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
|
|
|
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
|
|
|
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=)
|
rs2149083467
|
|
NM_000052.7(ATP7A):c.1336+10A>G
|
|
|
NM_000052.7(ATP7A):c.1336+7dup
|
|
|
NM_000052.7(ATP7A):c.1336+9C>A
|
|
|
NM_000052.7(ATP7A):c.1337-16T>A
|
|
|
NM_000052.7(ATP7A):c.1337-17C>G
|
|
|
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met)
|
|
|
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=)
|
rs2149087769
|
|
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
|
|
|
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=)
|
rs782421584
|
|
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
|
|
|
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)
|
rs2077718812
|
|
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
|
|
|
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=)
|
rs2149087828
|
|
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
|
|
|
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
|
|
|
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=)
|
rs2077719509
|
|
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
|
|
|
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=)
|
rs2149087866
|
|
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
|
|
|
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
|
|
|
NM_000052.7(ATP7A):c.147T>C (p.Thr49=)
|
|
|
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser)
|
|
|
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser)
|
|
|
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=)
|
|
|
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg)
|
|
|
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=)
|
rs2149087893
|
|
NM_000052.7(ATP7A):c.150T>A (p.Ile50=)
|
rs2149082532
|
|
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
|
|
|
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=)
|
rs1557232820
|
|
NM_000052.7(ATP7A):c.1543+15A>G
|
|
|
NM_000052.7(ATP7A):c.1543+17G>A
|
rs2149087916
|
|
NM_000052.7(ATP7A):c.1543+18C>T
|
|
|
NM_000052.7(ATP7A):c.1543+8A>C
|
|
|
NM_000052.7(ATP7A):c.1544-16T>G
|
|
|
NM_000052.7(ATP7A):c.1544-7C>T
|
rs2149090207
|
|
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val)
|
|
|
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=)
|
rs2149090230
|
|
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)
|
|
|
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=)
|
rs2149090234
|
|
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys)
|
|
|
NM_000052.7(ATP7A):c.159C>T (p.Asp53=)
|
rs2149082542
|
|
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
|
|
|
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
|
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
|
|
|
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
|
|
|
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
|
|
|
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=)
|
rs2149090265
|
|
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
|
|
|
NM_000052.7(ATP7A):c.166C>T (p.Leu56=)
|
rs2149082544
|
|
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr)
|
rs1603383823
|
|
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val)
|
rs782561107
|
|
NM_000052.7(ATP7A):c.1695T>C (p.Val565=)
|
rs2149090293
|
|
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=)
|
rs2149090295
|
|
NM_000052.7(ATP7A):c.1707+12T>G
|
|
|
NM_000052.7(ATP7A):c.1707+17G>A
|
|
|
NM_000052.7(ATP7A):c.1707+19G>A
|
|
|
NM_000052.7(ATP7A):c.1707+9G>C
|
rs2149090300
|
|
NM_000052.7(ATP7A):c.1708-16G>A
|
|
|
NM_000052.7(ATP7A):c.1708-5A>C
|
rs782104249
|
|
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
|
|
|
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg)
|
rs782076879
|
|
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=)
|
rs2149093501
|
|
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
|
|
|
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
|
|
|
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=)
|
rs2149093521
|
|
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=)
|
rs1557234093
|
|
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=)
|
|
|
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
|
|
|
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
|
|
|
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala)
|
|
|
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
|
|
|
NM_000052.7(ATP7A):c.1869+12G>T
|
|
|
NM_000052.7(ATP7A):c.1869+17del
|
|
|
NM_000052.7(ATP7A):c.1869+7G>A
|
rs2149093596
|
|
NM_000052.7(ATP7A):c.1869+7G>T
|
rs2149093596
|
|
NM_000052.7(ATP7A):c.1869+9C>G
|
rs2149093599
|
|
NM_000052.7(ATP7A):c.186A>G (p.Leu62=)
|
rs2149082562
|
|
NM_000052.7(ATP7A):c.1870-14A>G
|
|
|
NM_000052.7(ATP7A):c.1870-18T>C
|
|
|
NM_000052.7(ATP7A):c.1870-7T>G
|
|
|
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=)
|
rs2149094927
|
|
NM_000052.7(ATP7A):c.1896C>G (p.Val632=)
|
rs2149094955
|
|
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
|
|
|
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
|
|
|
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=)
|
|
|
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=)
|
|
|
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly)
|
|
|
NM_000052.7(ATP7A):c.1920C>T (p.His640=)
|
rs2149094980
|
|
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu)
|
|
|
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=)
|
|
|
NM_000052.7(ATP7A):c.1946+10T>G
|
rs2149095008
|
|
NM_000052.7(ATP7A):c.1946+12G>A
|
|
|
NM_000052.7(ATP7A):c.1946+12G>C
|
|
|
NM_000052.7(ATP7A):c.1946+15G>C
|
|
|
NM_000052.7(ATP7A):c.1946+16T>G
|
|
|
NM_000052.7(ATP7A):c.1947-15T>C
|
|
|
NM_000052.7(ATP7A):c.1947-16A>C
|
|
|
NM_000052.7(ATP7A):c.1947-16_1947-14del
|
rs2077824641
|
|
NM_000052.7(ATP7A):c.1947-16del
|
rs2149095131
|
|
NM_000052.7(ATP7A):c.1947-17T>A
|
|
|
NM_000052.7(ATP7A):c.1947-18T>C
|
|
|
NM_000052.7(ATP7A):c.1947-19T>C
|
|
|
NM_000052.7(ATP7A):c.1947-7A>C
|
|
|
NM_000052.7(ATP7A):c.1947-9C>T
|
rs2077824790
|
|
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=)
|
rs2077825077
|
|
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu)
|
|
|
NM_000052.7(ATP7A):c.1992A>G (p.Val664=)
|
|
|
NM_000052.7(ATP7A):c.19G>A (p.Val7Met)
|
|
|
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=)
|
rs2077825500
|
|
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=)
|
rs2077825500
|
|
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=)
|
rs2149095200
|
|
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
|
|
|
NM_000052.7(ATP7A):c.2028C>T (p.His676=)
|
rs2149095212
|
|
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=)
|
rs2077825942
|
|
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
|
|
|
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=)
|
rs2149095237
|
|
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=)
|
rs2077826356
|
|
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
|
|
|
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
|
|
|
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=)
|
|
|
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe)
|
|
|
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=)
|
rs2077826844
|
|
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=)
|
rs2149095287
|
|
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
|
|
|
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=)
|
rs797045346
|
|
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
|
|
|
NM_000052.7(ATP7A):c.2172+12G>C
|
rs1557234548
|
|
NM_000052.7(ATP7A):c.2172+13T>C
|
|
|
NM_000052.7(ATP7A):c.2172+8A>C
|
rs2149095311
|
|
NM_000052.7(ATP7A):c.2173-15A>T
|
|
|
NM_000052.7(ATP7A):c.2173-4G>T
|
|
|
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)
|
|
|
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=)
|
|
|
NM_000052.7(ATP7A):c.21G>C (p.Val7=)
|
rs2149073808
|
|
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys)
|
|
|
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
|
|
|
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=)
|
rs1557234725
|
|
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
|
|
|
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
|
|
|
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
|
|
|
NM_000052.7(ATP7A):c.2244A>G (p.Val748=)
|
rs2149095993
|
|
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=)
|
|
|
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
|
|
|
NM_000052.7(ATP7A):c.2253G>T (p.Val751=)
|
|
|
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=)
|
|
|
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=)
|
rs2149096003
|
|
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=)
|
rs1473914623
|
|
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=)
|
|
|
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=)
|
rs2149096036
|
|
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=)
|
rs2149096038
|
|
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=)
|
|
|
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=)
|
|
|
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=)
|
|
|
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
|
|
|
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=)
|
rs2149096056
|
|
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=)
|
rs2149096057
|
|
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
|
|
|
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=)
|
rs1208805004
|
|
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
|
|
|
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=)
|
rs1603385697
|
|
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
|
|
|
NM_000052.7(ATP7A):c.2406+12A>C
|
|
|
NM_000052.7(ATP7A):c.2406+14G>A
|
|
|
NM_000052.7(ATP7A):c.2406+14G>T
|
|
|
NM_000052.7(ATP7A):c.2406+16G>A
|
|
|
NM_000052.7(ATP7A):c.2406+16G>T
|
|
|
NM_000052.7(ATP7A):c.2406+16_2406+18del
|
rs782017566
|
|
NM_000052.7(ATP7A):c.2406+19A>T
|
|
|
NM_000052.7(ATP7A):c.2407-19T>A
|
|
|
NM_000052.7(ATP7A):c.2407-19TGTT[3]
|
|
|
NM_000052.7(ATP7A):c.2407-4A>G
|
rs2149096806
|
|
NM_000052.7(ATP7A):c.2407-4A>T
|
rs2149096806
|
|
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
|
|
|
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
|
|
|
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=)
|
rs782694822
|
|
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile)
|
|
|
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=)
|
rs2149096833
|
|
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)
|
|
|
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=)
|
|
|
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=)
|
rs2149096836
|
|
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=)
|
rs2149096842
|
|
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
|
|
|
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
|
|
|
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
|
|
|
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)
|
|
|
NM_000052.7(ATP7A):c.2498+16C>G
|
|
|
NM_000052.7(ATP7A):c.2498+18T>C
|
|
|
NM_000052.7(ATP7A):c.2499-10T>C
|
rs2149097330
|
|
NM_000052.7(ATP7A):c.2499-11C>A
|
|
|
NM_000052.7(ATP7A):c.2499-12A>T
|
rs2149097328
|
|
NM_000052.7(ATP7A):c.2499-18A>G
|
|
|
NM_000052.7(ATP7A):c.2499-20T>C
|
|
|
NM_000052.7(ATP7A):c.2499-7T>A
|
|
|
NM_000052.7(ATP7A):c.2526A>G (p.Val842=)
|
|
|
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg)
|
|
|
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=)
|
|
|
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)
|
|
|
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
|
|
|
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=)
|
rs2149097387
|
|
NM_000052.7(ATP7A):c.2586T>G (p.Val862=)
|
rs2149097395
|
|
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile)
|
rs782769542
|
|
NM_000052.7(ATP7A):c.261C>G (p.Thr87=)
|
rs2149082604
|
|
NM_000052.7(ATP7A):c.2626+11T>G
|
rs2077859760
|
|
NM_000052.7(ATP7A):c.2626+12C>G
|
|
|
NM_000052.7(ATP7A):c.2626+13A>G
|
|
|
NM_000052.7(ATP7A):c.2626+16G>A
|
rs2149097436
|
|
NM_000052.7(ATP7A):c.2626+17G>C
|
|
|
NM_000052.7(ATP7A):c.2626+18A>G
|
|
|
NM_000052.7(ATP7A):c.2626+8C>T
|
rs2149097424
|
|
NM_000052.7(ATP7A):c.2627-13A>T
|
|
|
NM_000052.7(ATP7A):c.2627-16T>G
|
|
|
NM_000052.7(ATP7A):c.2627-19A>G
|
|
|
NM_000052.7(ATP7A):c.2627-19A>T
|
|
|
NM_000052.7(ATP7A):c.2627-7C>T
|
rs1603386991
|
|
NM_000052.7(ATP7A):c.2627-8C>G
|
|
|
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=)
|
|
|
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
|
|
|
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
|
|
|
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=)
|
rs781976106
|
|
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=)
|
rs2149099638
|
|
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=)
|
|
|
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=)
|
rs2149099672
|
|
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=)
|
rs2149099676
|
|
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val)
|
|
|
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=)
|
rs1396353749
|
|
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=)
|
rs1193758510
|
|
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr)
|
|
|
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala)
|
|
|
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=)
|
rs2149099708
|
|
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=)
|
rs1603387045
|
|
NM_000052.7(ATP7A):c.2781+14C>T
|
|
|
NM_000052.7(ATP7A):c.2781+17G>C
|
|
|
NM_000052.7(ATP7A):c.2781+8A>T
|
rs2149099742
|
|
NM_000052.7(ATP7A):c.2782-11T>C
|
|
|
NM_000052.7(ATP7A):c.2782-13T>C
|
|
|
NM_000052.7(ATP7A):c.2782-14A>G
|
|
|
NM_000052.7(ATP7A):c.2782-14del
|
|
|
NM_000052.7(ATP7A):c.2782-4C>T
|
|
|
NM_000052.7(ATP7A):c.2782-6T>C
|
|
|
NM_000052.7(ATP7A):c.2782-8A>C
|
rs2149100096
|
|
NM_000052.7(ATP7A):c.2782-9T>C
|
|
|
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=)
|
rs2149100114
|
|
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=)
|
rs2149100126
|
|
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
|
|
|
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
|
|
|
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
|
|
|
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
|
|
|
NM_000052.7(ATP7A):c.2874A>C (p.Val958=)
|
|
|
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val)
|
|
|
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp)
|
|
|
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=)
|
|
|
NM_000052.7(ATP7A):c.2916+19C>T
|
|
|
NM_000052.7(ATP7A):c.2917-13C>A
|
rs1343084607
|
|
NM_000052.7(ATP7A):c.2917-13C>T
|
|
|
NM_000052.7(ATP7A):c.2917-14C>T
|
|
|
NM_000052.7(ATP7A):c.2917-15G>T
|
|
|
NM_000052.7(ATP7A):c.2917-16T>C
|
|
|
NM_000052.7(ATP7A):c.2917-19T>G
|
|
|
NM_000052.7(ATP7A):c.2917-6C>T
|
|
|
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=)
|
rs1557236690
|
|
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
|
|
|
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=)
|
rs782757659
|
|
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=)
|
|
|
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=)
|
rs782757659
|
|
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=)
|
rs2077967350
|
|
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
|
|
|
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
|
|
|
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=)
|
rs2077967684
|
|
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=)
|
rs2149104881
|
|
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
|
|
|
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
|
|
|
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=)
|
rs2149104907
|
|
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=)
|
|
|
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=)
|
rs2149104924
|
|
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=)
|
rs2149104926
|
|
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys)
|
|
|
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=)
|
|
|
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met)
|
|
|
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=)
|
|
|
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=)
|
rs2149104947
|
|
NM_000052.7(ATP7A):c.3111+10T>C
|
|
|
NM_000052.7(ATP7A):c.3111+10T>G
|
|
|
NM_000052.7(ATP7A):c.3111+11C>A
|
|
|
NM_000052.7(ATP7A):c.3111+13C>G
|
|
|
NM_000052.7(ATP7A):c.3111+18A>T
|
rs2149104971
|
|
NM_000052.7(ATP7A):c.3111+19C>T
|
|
|
NM_000052.7(ATP7A):c.3111+7C>T
|
|
|
NM_000052.7(ATP7A):c.3111+8A>G
|
|
|
NM_000052.7(ATP7A):c.3112-15_3112-14dup
|
rs2077982901
|
|
NM_000052.7(ATP7A):c.3112-16C>G
|
rs2149106076
|
|
NM_000052.7(ATP7A):c.3112-18A>G
|
|
|
NM_000052.7(ATP7A):c.3112-5T>C
|
rs2149106085
|
|
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
|
|
|
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
|
|
|
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro)
|
|
|
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)
|
|
|
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=)
|
rs797045370
|
|
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=)
|
|
|
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=)
|
|
|
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=)
|
rs371089220
|
|
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=)
|
|
|
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=)
|
rs2149106139
|
|
NM_000052.7(ATP7A):c.319T>C (p.Leu107=)
|
rs2149082638
|
|
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg)
|
|
|
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val)
|
|
|
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=)
|
rs2149106153
|
|
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
|
|
|
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=)
|
rs2149106168
|
|
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=)
|
rs2149106169
|
|
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
|
|
|
NM_000052.7(ATP7A):c.3294+14C>T
|
|
|
NM_000052.7(ATP7A):c.3294+15dup
|
|
|
NM_000052.7(ATP7A):c.3294+16C>T
|
|
|
NM_000052.7(ATP7A):c.3294+7T>G
|
|
|
NM_000052.7(ATP7A):c.3295-11_3295-10del
|
|
|
NM_000052.7(ATP7A):c.3295-14T>C
|
|
|
NM_000052.7(ATP7A):c.3295-16T>C
|
|
|
NM_000052.7(ATP7A):c.3295-5G>T
|
rs2149107138
|
|
NM_000052.7(ATP7A):c.3295-6del
|
rs1557237411
|
|
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
|
|
|
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
|
|
|
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
|
|
|
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
|
|
|
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=)
|
rs2149107179
|
|
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
|
|
|
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
|
|
|
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
|
|
|
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
|
|
|
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=)
|
rs2149107223
|
|
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
|
|
|
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=)
|
|
|
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val)
|
|
|
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys)
|
|
|
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile)
|
|
|
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=)
|
rs2077996988
|
|
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=)
|
|
|
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=)
|
|
|
NM_000052.7(ATP7A):c.3511+8A>C
|
rs2149107265
|
|
NM_000052.7(ATP7A):c.3511+9A>C
|
|
|
NM_000052.7(ATP7A):c.3511+9A>T
|
rs2149107266
|
|
NM_000052.7(ATP7A):c.3512-14G>A
|
|
|
NM_000052.7(ATP7A):c.3512-16C>T
|
|
|
NM_000052.7(ATP7A):c.3512-6T>C
|
rs2078029932
|
|
NM_000052.7(ATP7A):c.3512-7C>T
|
|
|
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
|
|
|
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
|
|
|
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)
|
|
|
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)
|
|
|
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser)
|
|
|
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)
|
|
|
NM_000052.7(ATP7A):c.360T>A (p.Pro120=)
|
rs1557231616
|
|
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
|
|
|
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
|
|
|
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
|
|
|
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
|
|
|
NM_000052.7(ATP7A):c.3658+17G>T
|
|
|
NM_000052.7(ATP7A):c.3658+19A>G
|
|
|
NM_000052.7(ATP7A):c.3659-7A>G
|
|
|
NM_000052.7(ATP7A):c.3659-9C>T
|
|
|
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)
|
|
|
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
|
|
|
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=)
|
rs2149110480
|
|
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
|
|
|
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
|
|
|
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=)
|
|
|
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=)
|
rs2149110492
|
|
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
|
|
|
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=)
|
rs1557238272
|
|
NM_000052.7(ATP7A):c.3801+11G>A
|
|
|
NM_000052.7(ATP7A):c.3801+17T>C
|
|
|
NM_000052.7(ATP7A):c.3801+20G>A
|
|
|
NM_000052.7(ATP7A):c.3802-15A>G
|
|
|
NM_000052.7(ATP7A):c.3802-6A>G
|
rs2149111706
|
|
NM_000052.7(ATP7A):c.3802-6A>T
|
rs2149111706
|
|
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=)
|
rs2149111712
|
|
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=)
|
rs2149111740
|
|
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val)
|
|
|
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=)
|
rs1043267619
|
|
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=)
|
rs2149111751
|
|
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=)
|
|
|
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=)
|
|
|
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=)
|
|
|
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=)
|
|
|
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=)
|
|
|
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=)
|
|
|
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=)
|
rs2149111823
|
|
NM_000052.7(ATP7A):c.393T>A (p.Pro131=)
|
|
|
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
|
|
|
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
|
|
|
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
|
|
|
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=)
|
rs369114635
|
|
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
|
|
|
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=)
|
|
|
NM_000052.7(ATP7A):c.39T>C (p.Ser13=)
|
rs986987107
|
|
NM_000052.7(ATP7A):c.4005+13G>T
|
|
|
NM_000052.7(ATP7A):c.4005+16T>A
|
|
|
NM_000052.7(ATP7A):c.4005+17G>C
|
|
|
NM_000052.7(ATP7A):c.4006-10C>G
|
|
|
NM_000052.7(ATP7A):c.4006-13T>C
|
|
|
NM_000052.7(ATP7A):c.4006-4T>C
|
|
|
NM_000052.7(ATP7A):c.4006-7T>A
|
|
|
NM_000052.7(ATP7A):c.400G>A (p.Val134Met)
|
|
|
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
|
|
|
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=)
|
rs2078061918
|
|
NM_000052.7(ATP7A):c.402G>C (p.Val134=)
|
|
|
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu)
|
rs375819425
|
|
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=)
|
rs375819425
|
|
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
|
|
|
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=)
|
rs1603391261
|
|
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=)
|
rs2078062354
|
|
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=)
|
|
|
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=)
|
|
|
NM_000052.7(ATP7A):c.4123+12T>A
|
|
|
NM_000052.7(ATP7A):c.4123+17T>C
|
|
|
NM_000052.7(ATP7A):c.4123+17T>G
|
|
|
NM_000052.7(ATP7A):c.4124-13A>G
|
|
|
NM_000052.7(ATP7A):c.4124-16C>T
|
|
|
NM_000052.7(ATP7A):c.4124-17C>A
|
|
|
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=)
|
rs2149113522
|
|
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala)
|
|
|
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)
|
|
|
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=)
|
rs2149113538
|
|
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=)
|
rs2149113545
|
|
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)
|
|
|
NM_000052.7(ATP7A):c.4226+12A>G
|
|
|
NM_000052.7(ATP7A):c.4226+18C>A
|
|
|
NM_000052.7(ATP7A):c.4226+20C>T
|
|
|
NM_000052.7(ATP7A):c.4226+7A>G
|
|
|
NM_000052.7(ATP7A):c.4226+9G>A
|
rs1557239012
|
|
NM_000052.7(ATP7A):c.4227-10A>G
|
|
|
NM_000052.7(ATP7A):c.4227-11C>T
|
rs2149113924
|
|
NM_000052.7(ATP7A):c.4227-12G>C
|
|
|
NM_000052.7(ATP7A):c.4227-16T>C
|
|
|
NM_000052.7(ATP7A):c.4227-17C>T
|
|
|
NM_000052.7(ATP7A):c.4227-18del
|
|
|
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
|
|
|
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=)
|
rs2078083306
|
|
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser)
|
|
|
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=)
|
rs2149113967
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=)
|
rs2149113981
|
|
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
|
|
|
NM_000052.7(ATP7A):c.429T>G (p.Val143=)
|
rs2149082691
|
|
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=)
|
rs2149114009
|
|
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=)
|
rs2149114035
|
|
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=)
|
rs2149114038
|
|
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=)
|
rs2149114044
|
|
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
|
|
|
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
|
|
|
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=)
|
rs1603391708
|
|
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
|
|
|
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
|
|
|
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
|
|
|
NM_000052.7(ATP7A):c.48T>G (p.Gly16=)
|
rs2149073819
|
|
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
|
|
|
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
|
|
|
NM_000052.7(ATP7A):c.528A>G (p.Lys176=)
|
rs2149082749
|
|
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)
|
|
|
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)
|
|
|
NM_000052.7(ATP7A):c.534A>G (p.Glu178=)
|
rs2077652554
|
|
NM_000052.7(ATP7A):c.537G>A (p.Gly179=)
|
|
|
NM_000052.7(ATP7A):c.543C>T (p.Thr181=)
|
|
|
NM_000052.7(ATP7A):c.552A>G (p.Ser184=)
|
rs1557231655
|
|
NM_000052.7(ATP7A):c.552A>T (p.Ser184=)
|
|
|
NM_000052.7(ATP7A):c.555T>C (p.Cys185=)
|
|
|
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
|
|
|
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
|
|
|
NM_000052.7(ATP7A):c.57C>T (p.Cys19=)
|
rs145406974
|
|
NM_000052.7(ATP7A):c.597T>C (p.Val199=)
|
|
|
NM_000052.7(ATP7A):c.610+10C>T
|
|
|
NM_000052.7(ATP7A):c.610+13G>A
|
|
|
NM_000052.7(ATP7A):c.610+15G>T
|
|
|
NM_000052.7(ATP7A):c.610+18G>T
|
|
|
NM_000052.7(ATP7A):c.610+19A>C
|
|
|
NM_000052.7(ATP7A):c.610+20T>C
|
|
|
NM_000052.7(ATP7A):c.611-10T>C
|
rs2149083014
|
|
NM_000052.7(ATP7A):c.611-16del
|
|
|
NM_000052.7(ATP7A):c.611-20T>C
|
|
|
NM_000052.7(ATP7A):c.611-21_611-17del
|
rs1350377636
|
|
NM_000052.7(ATP7A):c.611-6A>G
|
|
|
NM_000052.7(ATP7A):c.612C>T (p.Val204=)
|
rs2077655830
|
|
NM_000052.7(ATP7A):c.616C>T (p.Leu206=)
|
|
|
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
|
|
|
NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
|
|
|
NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
|
|
|
NM_000052.7(ATP7A):c.69T>G (p.Val23=)
|
|
|
NM_000052.7(ATP7A):c.714C>A (p.Val238=)
|
rs2149083069
|
|
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
|
|
|
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr)
|
rs184646064
|
|
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
|
|
|
NM_000052.7(ATP7A):c.753T>C (p.Asp251=)
|
rs2149083096
|
|
NM_000052.7(ATP7A):c.756A>G (p.Val252=)
|
|
|
NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
|
|
|
NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
|
|
|
NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
|
|
|
NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
|
|
|
NM_000052.7(ATP7A):c.816A>G (p.Ser272=)
|
rs2149083124
|
|
NM_000052.7(ATP7A):c.81G>A (p.Glu27=)
|
rs2149073851
|
|
NM_000052.7(ATP7A):c.822C>T (p.Thr274=)
|
rs2149083127
|
|
NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile)
|
|
|
NM_000052.7(ATP7A):c.828T>C (p.Asp276=)
|
rs2077656976
|
|
NM_000052.7(ATP7A):c.831A>T (p.Ser277=)
|
rs2149083138
|
|
NM_000052.7(ATP7A):c.837C>T (p.Ala279=)
|
|
|
NM_000052.7(ATP7A):c.843C>T (p.Phe281=)
|
|
|
NM_000052.7(ATP7A):c.849T>A (p.Ile283=)
|
|
|
NM_000052.7(ATP7A):c.84G>A (p.Gln28=)
|
rs1603378828
|
|
NM_000052.7(ATP7A):c.860A>G (p.His287Arg)
|
|
|
NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
|
|
|
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)
|
|
|
NM_000052.7(ATP7A):c.903A>C (p.Ala301=)
|
rs1557231803
|
|
NM_000052.7(ATP7A):c.906C>T (p.Leu302=)
|
|
|
NM_000052.7(ATP7A):c.927A>G (p.Val309=)
|
rs2149083187
|
|
NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
|
|
|
NM_000052.7(ATP7A):c.942T>C (p.Asn314=)
|
rs2149083195
|
|
NM_000052.7(ATP7A):c.945G>A (p.Arg315=)
|
rs2149083198
|
|
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr)
|
rs2149083223
|
|
NM_000052.7(ATP7A):c.978C>T (p.Val326=)
|
|
|
NM_002860.4(ALDH18A1):c.1005G>A (p.Val335=)
|
|
|
NM_002860.4(ALDH18A1):c.1047T>G (p.Val349=)
|
|
|
NM_002860.4(ALDH18A1):c.1071G>A (p.Lys357=)
|
|
|
NM_002860.4(ALDH18A1):c.1078+12_1078+14del
|
|
|
NM_002860.4(ALDH18A1):c.1078+20G>A
|
|
|
NM_002860.4(ALDH18A1):c.1079-11T>C
|
|
|
NM_002860.4(ALDH18A1):c.1079-16G>T
|
|
|
NM_002860.4(ALDH18A1):c.1104A>G (p.Glu368=)
|
|
|
NM_002860.4(ALDH18A1):c.1137C>G (p.Thr379=)
|
|
|
NM_002860.4(ALDH18A1):c.1153-11C>G
|
|
|
NM_002860.4(ALDH18A1):c.1153-6T>C
|
|
|
NM_002860.4(ALDH18A1):c.1153-8_1153-5del
|
|
|
NM_002860.4(ALDH18A1):c.1191G>A (p.Thr397=)
|
|
|
NM_002860.4(ALDH18A1):c.1246+15A>G
|
|
|
NM_002860.4(ALDH18A1):c.1247-16C>G
|
|
|
NM_002860.4(ALDH18A1):c.1247-17T>A
|
rs1208309079
|
|
NM_002860.4(ALDH18A1):c.1275T>C (p.Arg425=)
|
|
|
NM_002860.4(ALDH18A1):c.1290A>C (p.Thr430=)
|
|
|
NM_002860.4(ALDH18A1):c.1350C>T (p.Ser450=)
|
|
|
NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu)
|
rs570730665
|
|
NM_002860.4(ALDH18A1):c.1371C>T (p.Arg457=)
|
|
|
NM_002860.4(ALDH18A1):c.141G>A (p.Pro47=)
|
|
|
NM_002860.4(ALDH18A1):c.141G>T (p.Pro47=)
|
rs748824728
|
|
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=)
|
rs1374293487
|
|
NM_002860.4(ALDH18A1):c.1503G>A (p.Leu501=)
|
rs77717600
|
|
NM_002860.4(ALDH18A1):c.1506A>G (p.Leu502=)
|
|
|
NM_002860.4(ALDH18A1):c.1524G>A (p.Glu508=)
|
|
|
NM_002860.4(ALDH18A1):c.1551C>T (p.His517=)
|
|
|
NM_002860.4(ALDH18A1):c.1576A>G (p.Ile526Val)
|
|
|
NM_002860.4(ALDH18A1):c.1605+11G>C
|
|
|
NM_002860.4(ALDH18A1):c.1605+16T>C
|
|
|
NM_002860.4(ALDH18A1):c.1606-13T>C
|
|
|
NM_002860.4(ALDH18A1):c.1606-15T>C
|
rs2139542064
|
|
NM_002860.4(ALDH18A1):c.1606-19_1606-15del
|
|
|
NM_002860.4(ALDH18A1):c.1606-7T>C
|
|
|
NM_002860.4(ALDH18A1):c.1624G>A (p.Val542Ile)
|
rs552325165
|
|
NM_002860.4(ALDH18A1):c.1737C>T (p.His579=)
|
|
|
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=)
|
rs139035272
|
|
NM_002860.4(ALDH18A1):c.1801+10A>G
|
|
|
NM_002860.4(ALDH18A1):c.1802-20C>A
|
|
|
NM_002860.4(ALDH18A1):c.1802-20C>G
|
|
|
NM_002860.4(ALDH18A1):c.1923+13T>C
|
|
|
NM_002860.4(ALDH18A1):c.2007G>A (p.Gly669=)
|
|
|
NM_002860.4(ALDH18A1):c.2028A>G (p.Glu676=)
|
rs1327684346
|
|
NM_002860.4(ALDH18A1):c.2064C>T (p.Ile688=)
|
|
|
NM_002860.4(ALDH18A1):c.2085C>T (p.His695=)
|
|
|
NM_002860.4(ALDH18A1):c.2088G>A (p.Thr696=)
|
|
|
NM_002860.4(ALDH18A1):c.2097C>T (p.Ile699=)
|
|
|
NM_002860.4(ALDH18A1):c.2110+10C>T
|
|
|
NM_002860.4(ALDH18A1):c.2111-12_2111-10del
|
|
|
NM_002860.4(ALDH18A1):c.2111-14T>C
|
|
|
NM_002860.4(ALDH18A1):c.2111-5T>C
|
|
|
NM_002860.4(ALDH18A1):c.2111-7C>A
|
rs542177817
|
|
NM_002860.4(ALDH18A1):c.2139C>T (p.His713=)
|
|
|
NM_002860.4(ALDH18A1):c.2148T>C (p.Ser716=)
|
|
|
NM_002860.4(ALDH18A1):c.2207-14A>T
|
|
|
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=)
|
rs148601288
|
|
NM_002860.4(ALDH18A1):c.2241C>T (p.His747=)
|
|
|
NM_002860.4(ALDH18A1):c.2277T>C (p.Thr759=)
|
|
|
NM_002860.4(ALDH18A1):c.2307C>T (p.His769=)
|
|
|
NM_002860.4(ALDH18A1):c.2370T>G (p.Pro790=)
|
|
|
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=)
|
rs537733180
|
|
NM_002860.4(ALDH18A1):c.279G>A (p.Gly93=)
|
|
|
NM_002860.4(ALDH18A1):c.303+10A>T
|
|
|
NM_002860.4(ALDH18A1):c.303+12G>A
|
|
|
NM_002860.4(ALDH18A1):c.303+15A>G
|
|
|
NM_002860.4(ALDH18A1):c.303+4_303+7dup
|
rs772902503
|
|
NM_002860.4(ALDH18A1):c.304-3del
|
|
|
NM_002860.4(ALDH18A1):c.357C>G (p.Ala119=)
|
rs767594147
|
|
NM_002860.4(ALDH18A1):c.366T>C (p.Phe122=)
|
rs2139622090
|
|
NM_002860.4(ALDH18A1):c.42C>T (p.Asn14=)
|
|
|
NM_002860.4(ALDH18A1):c.475C>A (p.Arg159=)
|
|
|
NM_002860.4(ALDH18A1):c.522G>A (p.Glu174=)
|
rs1240158166
|
|
NM_002860.4(ALDH18A1):c.555C>G (p.Ala185=)
|
|
|
NM_002860.4(ALDH18A1):c.558+18G>T
|
rs2139620979
|
|
NM_002860.4(ALDH18A1):c.559-12T>C
|
|
|
NM_002860.4(ALDH18A1):c.642C>T (p.Asn214=)
|
rs1589534526
|
|
NM_002860.4(ALDH18A1):c.648C>A (p.Val216=)
|
|
|
NM_002860.4(ALDH18A1):c.678C>A (p.Val226=)
|
|
|
NM_002860.4(ALDH18A1):c.687T>C (p.Ala229=)
|
|
|
NM_002860.4(ALDH18A1):c.717+13T>C
|
|
|
NM_002860.4(ALDH18A1):c.718-20C>T
|
rs1488774481
|
|
NM_002860.4(ALDH18A1):c.718-7A>C
|
rs1230591674
|
|
NM_002860.4(ALDH18A1):c.809-15_809-14del
|
|
|
NM_002860.4(ALDH18A1):c.809-18C>T
|
rs778442273
|
|
NM_002860.4(ALDH18A1):c.809-8T>C
|
rs1405015772
|
|
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=)
|
rs752470665
|
|
NM_002860.4(ALDH18A1):c.867C>T (p.Pro289=)
|
|
|
NM_002860.4(ALDH18A1):c.88+13G>C
|
|
|
NM_002860.4(ALDH18A1):c.89-9T>C
|
|
|
NM_002860.4(ALDH18A1):c.945C>A (p.Ala315=)
|
|
|
NM_002860.4(ALDH18A1):c.945C>T (p.Ala315=)
|
rs566528582
|
|
NM_016938.5(EFEMP2):c.1011A>G (p.Arg337=)
|
rs2134746954
|
|
NM_016938.5(EFEMP2):c.1014G>A (p.Glu338=)
|
rs2134746942
|
|
NM_016938.5(EFEMP2):c.1071C>T (p.Pro357=)
|
|
|
NM_016938.5(EFEMP2):c.1077C>T (p.Asp359=)
|
rs758240045
|
|
NM_016938.5(EFEMP2):c.1080G>C (p.Val360=)
|
|
|
NM_016938.5(EFEMP2):c.1083C>T (p.Phe361=)
|
|
|
NM_016938.5(EFEMP2):c.1092G>A (p.Gln364=)
|
|
|
NM_016938.5(EFEMP2):c.111+19G>A
|
|
|
NM_016938.5(EFEMP2):c.1110C>G (p.Pro370=)
|
|
|
NM_016938.5(EFEMP2):c.1149G>A (p.Ser383=)
|
|
|
NM_016938.5(EFEMP2):c.1161T>C (p.Phe387=)
|
rs1859884972
|
|
NM_016938.5(EFEMP2):c.1167T>C (p.Ile389=)
|
|
|
NM_016938.5(EFEMP2):c.1170+11T>C
|
|
|
NM_016938.5(EFEMP2):c.1170+12G>A
|
|
|
NM_016938.5(EFEMP2):c.1170+13C>T
|
rs2134746467
|
|
NM_016938.5(EFEMP2):c.1171-19C>T
|
rs543697634
|
|
NM_016938.5(EFEMP2):c.1171-9G>A
|
|
|
NM_016938.5(EFEMP2):c.1218G>T (p.Thr406=)
|
|
|
NM_016938.5(EFEMP2):c.1236G>A (p.Val412=)
|
|
|
NM_016938.5(EFEMP2):c.1248G>A (p.Glu416=)
|
|
|
NM_016938.5(EFEMP2):c.1302C>T (p.Leu434=)
|
|
|
NM_016938.5(EFEMP2):c.1305C>G (p.Thr435=)
|
rs1260193001
|
|
NM_016938.5(EFEMP2):c.160+17G>T
|
rs1274496096
|
|
NM_016938.5(EFEMP2):c.160+20C>T
|
rs1859971594
|
|
NM_016938.5(EFEMP2):c.160+7G>T
|
|
|
NM_016938.5(EFEMP2):c.161-13C>A
|
rs771655821
|
|
NM_016938.5(EFEMP2):c.161-6C>T
|
|
|
NM_016938.5(EFEMP2):c.168C>T (p.Asn56=)
|
rs367732454
|
|
NM_016938.5(EFEMP2):c.180C>A (p.Thr60=)
|
rs780024554
|
|
NM_016938.5(EFEMP2):c.180C>T (p.Thr60=)
|
|
|
NM_016938.5(EFEMP2):c.183C>T (p.Ile61=)
|
rs1591067866
|
|
NM_016938.5(EFEMP2):c.18C>T (p.Ser6=)
|
|
|
NM_016938.5(EFEMP2):c.204A>G (p.Glu68=)
|
|
|
NM_016938.5(EFEMP2):c.225C>T (p.Tyr75=)
|
|
|
NM_016938.5(EFEMP2):c.234C>T (p.Tyr78=)
|
rs2134752225
|
|
NM_016938.5(EFEMP2):c.258C>G (p.Ala86=)
|
rs143873931
|
|
NM_016938.5(EFEMP2):c.258C>T (p.Ala86=)
|
rs143873931
|
|
NM_016938.5(EFEMP2):c.270C>T (p.Asp90=)
|
|
|
NM_016938.5(EFEMP2):c.291G>A (p.Pro97=)
|
|
|
NM_016938.5(EFEMP2):c.297A>C (p.Pro99=)
|
|
|
NM_016938.5(EFEMP2):c.30G>A (p.Gly10=)
|
|
|
NM_016938.5(EFEMP2):c.315C>T (p.His105=)
|
rs774020582
|
|
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=)
|
rs762409753
|
|
NM_016938.5(EFEMP2):c.333A>G (p.Pro111=)
|
|
|
NM_016938.5(EFEMP2):c.345C>T (p.Pro115=)
|
rs770611350
|
|
NM_016938.5(EFEMP2):c.348C>T (p.Asp116=)
|
rs376350227
|
|
NM_016938.5(EFEMP2):c.367+13T>C
|
|
|
NM_016938.5(EFEMP2):c.368-13del
|
rs2134751365
|
|
NM_016938.5(EFEMP2):c.368-16G>A
|
|
|
NM_016938.5(EFEMP2):c.450C>T (p.Thr150=)
|
|
|
NM_016938.5(EFEMP2):c.48G>T (p.Ala16=)
|
|
|
NM_016938.5(EFEMP2):c.490+16A>G
|
|
|
NM_016938.5(EFEMP2):c.490+8C>T
|
rs2134751112
|
|
NM_016938.5(EFEMP2):c.490+9A>T
|
rs1465424178
|
|
NM_016938.5(EFEMP2):c.491-15T>C
|
|
|
NM_016938.5(EFEMP2):c.491-6C>T
|
|
|
NM_016938.5(EFEMP2):c.492C>T (p.Asp164=)
|
|
|
NM_016938.5(EFEMP2):c.513C>T (p.Arg171=)
|
|
|
NM_016938.5(EFEMP2):c.519C>T (p.Cys173=)
|
|
|
NM_016938.5(EFEMP2):c.538C>T (p.Leu180=)
|
rs1859940269
|
|
NM_016938.5(EFEMP2):c.543T>C (p.Pro181=)
|
|
|
NM_016938.5(EFEMP2):c.546C>T (p.Gly182=)
|
|
|
NM_016938.5(EFEMP2):c.570G>T (p.Pro190=)
|
rs145853251
|
|
NM_016938.5(EFEMP2):c.607+14G>T
|
|
|
NM_016938.5(EFEMP2):c.609T>C (p.Asp203=)
|
|
|
NM_016938.5(EFEMP2):c.618G>A (p.Glu206=)
|
rs2134750264
|
|
NM_016938.5(EFEMP2):c.633C>A (p.Ala211=)
|
|
|
NM_016938.5(EFEMP2):c.663T>C (p.Tyr221=)
|
|
|
NM_016938.5(EFEMP2):c.6C>A (p.Leu2=)
|
rs1198242126
|
|
NM_016938.5(EFEMP2):c.6C>T (p.Leu2=)
|
|
|
NM_016938.5(EFEMP2):c.727+16C>G
|
|
|
NM_016938.5(EFEMP2):c.727+7G>A
|
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|
NM_016938.5(EFEMP2):c.727+7G>C
|
|
|
NM_016938.5(EFEMP2):c.728-11T>C
|
rs2134748381
|
|
NM_016938.5(EFEMP2):c.759C>G (p.Leu253=)
|
rs1555042933
|
|
NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val)
|
|
|
NM_016938.5(EFEMP2):c.792T>C (p.Arg264=)
|
|
|
NM_016938.5(EFEMP2):c.847+9T>C
|
|
|
NM_016938.5(EFEMP2):c.848-12C>T
|
|
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NM_016938.5(EFEMP2):c.848-15T>C
|
|
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NM_016938.5(EFEMP2):c.848-9C>T
|
|
|
NM_016938.5(EFEMP2):c.852T>A (p.Ile284=)
|
rs200285623
|
|
NM_016938.5(EFEMP2):c.855T>C (p.Asp285=)
|
rs2134747902
|
|
NM_016938.5(EFEMP2):c.912T>C (p.His304=)
|
rs1555042846
|
|
NM_016938.5(EFEMP2):c.933C>T (p.Asp311=)
|
|
|
NM_016938.5(EFEMP2):c.939C>T (p.Asn313=)
|
rs754497556
|
|
NM_016938.5(EFEMP2):c.969T>C (p.Ser323=)
|
|
|
NM_016938.5(EFEMP2):c.974+7C>T
|
rs371085261
|
|
NM_016938.5(EFEMP2):c.975-12C>T
|
|
|
NM_016938.5(EFEMP2):c.975-20C>T
|
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|
NM_030777.4(SLC2A10):c.1023C>T (p.Leu341=)
|
|
|
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)
|
rs200196034
|
|
NM_030777.4(SLC2A10):c.1134C>T (p.Pro378=)
|
rs892020307
|
|
NM_030777.4(SLC2A10):c.114T>G (p.Leu38=)
|
rs2123042176
|
|
NM_030777.4(SLC2A10):c.1185C>T (p.Leu395=)
|
rs371752807
|
|
NM_030777.4(SLC2A10):c.1203C>A (p.Pro401=)
|
|
|
NM_030777.4(SLC2A10):c.1212G>A (p.Gly404=)
|
|
|
NM_030777.4(SLC2A10):c.1219C>T (p.Leu407=)
|
rs1194888660
|
|
NM_030777.4(SLC2A10):c.1239G>A (p.Leu413=)
|
rs2123051382
|
|
NM_030777.4(SLC2A10):c.1248G>C (p.Leu416=)
|
|
|
NM_030777.4(SLC2A10):c.1288+19C>T
|
|
|
NM_030777.4(SLC2A10):c.1288+20A>G
|
|
|
NM_030777.4(SLC2A10):c.1288+9A>C
|
|
|
NM_030777.4(SLC2A10):c.1289-18C>G
|
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|
NM_030777.4(SLC2A10):c.12C>A (p.Ser4=)
|
|
|
NM_030777.4(SLC2A10):c.1305C>A (p.Leu435=)
|
rs201159437
|
|
NM_030777.4(SLC2A10):c.1326G>A (p.Glu442=)
|
rs2123053808
|
|
NM_030777.4(SLC2A10):c.1338A>G (p.Arg446=)
|
|
|
NM_030777.4(SLC2A10):c.1401C>A (p.Leu467=)
|
|
|
NM_030777.4(SLC2A10):c.1411+16A>G
|
|
|
NM_030777.4(SLC2A10):c.1440G>T (p.Leu480=)
|
|
|
NM_030777.4(SLC2A10):c.1443C>G (p.Leu481=)
|
rs1168833604
|
|
NM_030777.4(SLC2A10):c.144G>A (p.Glu48=)
|
rs375145963
|
|
NM_030777.4(SLC2A10):c.1513T>C (p.Leu505=)
|
|
|
NM_030777.4(SLC2A10):c.153G>A (p.Val51=)
|
|
|
NM_030777.4(SLC2A10):c.1547+14del
|
|
|
NM_030777.4(SLC2A10):c.1547+16G>A
|
rs765696201
|
|
NM_030777.4(SLC2A10):c.1547+16G>C
|
|
|
NM_030777.4(SLC2A10):c.1547+17dup
|
|
|
NM_030777.4(SLC2A10):c.1548-9G>C
|
|
|
NM_030777.4(SLC2A10):c.1560C>T (p.Ser520=)
|
|
|
NM_030777.4(SLC2A10):c.1611C>A (p.Ile537=)
|
rs1060502314
|
|
NM_030777.4(SLC2A10):c.1611C>T (p.Ile537=)
|
|
|
NM_030777.4(SLC2A10):c.183C>G (p.Ala61=)
|
|
|
NM_030777.4(SLC2A10):c.186C>T (p.Ser62=)
|
|
|
NM_030777.4(SLC2A10):c.18T>C (p.Pro6=)
|
rs1414654111
|
|
NM_030777.4(SLC2A10):c.192T>G (p.Val64=)
|
|
|
NM_030777.4(SLC2A10):c.219C>T (p.Gly73=)
|
|
|
NM_030777.4(SLC2A10):c.231C>T (p.Ala77=)
|
|
|
NM_030777.4(SLC2A10):c.246C>T (p.Asn82=)
|
|
|
NM_030777.4(SLC2A10):c.252G>C (p.Val84=)
|
|
|
NM_030777.4(SLC2A10):c.267C>T (p.Ser89=)
|
rs747559824
|
|
NM_030777.4(SLC2A10):c.273C>G (p.Thr91=)
|
|
|
NM_030777.4(SLC2A10):c.292C>T (p.Leu98=)
|
|
|
NM_030777.4(SLC2A10):c.303G>T (p.Leu101=)
|
rs527497095
|
|
NM_030777.4(SLC2A10):c.30G>A (p.Leu10=)
|
|
|
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)
|
rs6094438
|
|
NM_030777.4(SLC2A10):c.333C>T (p.Ala111=)
|
|
|
NM_030777.4(SLC2A10):c.354T>G (p.Ala118=)
|
rs2123044063
|
|
NM_030777.4(SLC2A10):c.4+10G>A
|
rs1978796306
|
|
NM_030777.4(SLC2A10):c.4+14G>C
|
|
|
NM_030777.4(SLC2A10):c.4+14G>T
|
|
|
NM_030777.4(SLC2A10):c.4+9C>G
|
rs1057521373
|
|
NM_030777.4(SLC2A10):c.411C>T (p.Ser137=)
|
rs1979846423
|
|
NM_030777.4(SLC2A10):c.432C>A (p.Thr144=)
|
|
|
NM_030777.4(SLC2A10):c.5-18C>T
|
rs1600666278
|
|
NM_030777.4(SLC2A10):c.5-7T>G
|
|
|
NM_030777.4(SLC2A10):c.5-9_5-6del
|
rs2123041402
|
|
NM_030777.4(SLC2A10):c.5-9_5-7del
|
rs1600666288
|
|
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)
|
rs540023880
|
|
NM_030777.4(SLC2A10):c.504C>T (p.Phe168=)
|
rs540023880
|
|
NM_030777.4(SLC2A10):c.51G>T (p.Leu17=)
|
|
|
NM_030777.4(SLC2A10):c.54T>A (p.Gly18=)
|
|
|
NM_030777.4(SLC2A10):c.579A>G (p.Ala193=)
|
|
|
NM_030777.4(SLC2A10):c.609A>G (p.Gly203=)
|
|
|
NM_030777.4(SLC2A10):c.615G>A (p.Glu205=)
|
rs2123046162
|
|
NM_030777.4(SLC2A10):c.621C>G (p.Pro207=)
|
rs1222577461
|
|
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)
|
rs748662135
|
|
NM_030777.4(SLC2A10):c.639G>A (p.Arg213=)
|
|
|
NM_030777.4(SLC2A10):c.645G>C (p.Arg215=)
|
rs367742782
|
|
NM_030777.4(SLC2A10):c.675C>T (p.Arg225=)
|
|
|
NM_030777.4(SLC2A10):c.699A>C (p.Thr233=)
|
|
|
NM_030777.4(SLC2A10):c.699A>G (p.Thr233=)
|
|
|
NM_030777.4(SLC2A10):c.801C>T (p.Ser267=)
|
|
|
NM_030777.4(SLC2A10):c.816C>A (p.Ala272=)
|
|
|
NM_030777.4(SLC2A10):c.816C>T (p.Ala272=)
|
rs148058006
|
|
NM_030777.4(SLC2A10):c.831C>A (p.Gly277=)
|
rs142697617
|
|
NM_030777.4(SLC2A10):c.831C>T (p.Gly277=)
|
rs142697617
|
|
NM_030777.4(SLC2A10):c.897G>A (p.Leu299=)
|
rs1979908015
|
|
NM_030777.4(SLC2A10):c.897G>C (p.Leu299=)
|
|
|
NM_030777.4(SLC2A10):c.930C>T (p.Ser310=)
|
|
|