NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00015
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
NM_000053.4(ATP7B):c.2575+5G>C
|
rs551030054
|
0.00002
|
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)
|
rs777791532
|
0.00002
|
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)
|
rs756718353
|
0.00002
|
NM_000053.4(ATP7B):c.1285+2T>A
|
rs759749626
|
0.00001
|
NM_000053.4(ATP7B):c.2355+4A>G
|
rs776572343
|
0.00001
|
NM_000053.4(ATP7B):c.2485G>A (p.Asp829Asn)
|
rs181388674
|
0.00001
|
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr)
|
rs1017756733
|
0.00001
|
NM_000053.4(ATP7B):c.2575+1G>C
|
rs766149114
|
0.00001
|
NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu)
|
rs775553302
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)
|
rs750891085
|
0.00001
|
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)
|
rs1412025509
|
0.00001
|
NM_000053.4(ATP7B):c.3282C>G (p.Phe1094Leu)
|
rs1957397703
|
0.00001
|
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)
|
rs755817220
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr)
|
rs548512104
|
0.00001
|
NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val)
|
rs1956914257
|
0.00001
|
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys)
|
rs776848753
|
0.00001
|
NM_000053.4(ATP7B):c.52-1G>T
|
rs1057517351
|
0.00001
|
NC_000013.10:g.(?_52511412)_(52513329_?)del
|
|
|
NC_000013.10:g.(?_52544712)_(52545071_?)del
|
|
|
NC_000013.11:g.(?_51937256)_(51939213_?)del
|
|
|
NM_000053.4(ATP7B):c.1286-1G>T
|
rs2139975355
|
|
NM_000053.4(ATP7B):c.1493C>T (p.Thr498Ile)
|
rs2139962593
|
|
NM_000053.4(ATP7B):c.1544-1G>A
|
rs1951686649
|
|
NM_000053.4(ATP7B):c.1594T>C (p.Tyr532His)
|
|
|
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys)
|
rs375071383
|
|
NM_000053.4(ATP7B):c.1700_1707+16del
|
rs1555294199
|
|
NM_000053.4(ATP7B):c.1707+1G>A
|
rs377001615
|
|
NM_000053.4(ATP7B):c.1708-2A>G
|
rs1057517024
|
|
NM_000053.4(ATP7B):c.1869+1G>A
|
|
|
NM_000053.4(ATP7B):c.1946+1G>A
|
|
|
NM_000053.4(ATP7B):c.1946+1del
|
rs1958764803
|
|
NM_000053.4(ATP7B):c.1947-1G>C
|
rs1405260211
|
|
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr)
|
rs1212479289
|
|
NM_000053.4(ATP7B):c.2108G>T (p.Cys703Phe)
|
|
|
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
|
|
|
NM_000053.4(ATP7B):c.2122-3C>T
|
rs1593726901
|
|
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)
|
rs1555291285
|
|
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)
|
rs1394999756
|
|
NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu)
|
rs2139545313
|
|
NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp)
|
|
|
NM_000053.4(ATP7B):c.2185A>G (p.Met729Val)
|
|
|
NM_000053.4(ATP7B):c.2295C>G (p.Asp765Glu)
|
rs774769813
|
|
NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg)
|
rs776668666
|
|
NM_000053.4(ATP7B):c.2303C>G (p.Pro768Arg)
|
rs1057516844
|
|
NM_000053.4(ATP7B):c.2356-1G>A
|
rs1555290925
|
|
NM_000053.4(ATP7B):c.2356-1G>C
|
rs1555290925
|
|
NM_000053.4(ATP7B):c.2356-2A>G
|
rs2139505830
|
|
NM_000053.4(ATP7B):c.2485G>C (p.Asp829His)
|
|
|
NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val)
|
|
|
NM_000053.4(ATP7B):c.2527G>A (p.Gly843Arg)
|
|
|
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
|
|
|
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
|
rs752634617
|
|
NM_000053.4(ATP7B):c.2561A>G (p.Glu854Gly)
|
|
|
NM_000053.4(ATP7B):c.2572A>G (p.Thr858Ala)
|
rs2139220914
|
|
NM_000053.4(ATP7B):c.2576-2A>G
|
rs757265256
|
|
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2663C>T (p.Thr888Ile)
|
|
|
NM_000053.4(ATP7B):c.2680A>G (p.Thr894Ala)
|
|
|
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)
|
rs1340729837
|
|
NM_000053.4(ATP7B):c.2730+1G>A
|
rs1057516425
|
|
NM_000053.4(ATP7B):c.2730+2T>A
|
rs2139201007
|
|
NM_000053.4(ATP7B):c.2730+2T>C
|
rs2139201007
|
|
NM_000053.4(ATP7B):c.2762G>T (p.Ser921Ile)
|
|
|
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)
|
rs1228359983
|
|
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)
|
rs28942076
|
|
NM_000053.4(ATP7B):c.2866-2del
|
rs1593681941
|
|
NM_000053.4(ATP7B):c.2906G>C (p.Arg969Pro)
|
rs121907996
|
|
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe)
|
rs778163447
|
|
NM_000053.4(ATP7B):c.2957C>T (p.Ser986Phe)
|
|
|
NM_000053.4(ATP7B):c.2963G>T (p.Gly988Val)
|
|
|
NM_000053.4(ATP7B):c.2971A>G (p.Thr991Ala)
|
rs1476409946
|
|
NM_000053.4(ATP7B):c.2986A>G (p.Met996Val)
|
|
|
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val)
|
|
|
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu)
|
rs2139048200
|
|
NM_000053.4(ATP7B):c.3053C>A (p.Ala1018Glu)
|
|
|
NM_000053.4(ATP7B):c.3061-3C>A
|
|
|
NM_000053.4(ATP7B):c.3089G>T (p.Gly1030Val)
|
|
|
NM_000053.4(ATP7B):c.3104G>A (p.Gly1035Asp)
|
|
|
NM_000053.4(ATP7B):c.3122G>C (p.Arg1041Pro)
|
|
|
NM_000053.4(ATP7B):c.3206A>T (p.His1069Leu)
|
|
|
NM_000053.4(ATP7B):c.3243+2T>C
|
rs1593671769
|
|
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)
|
rs1555285911
|
|
NM_000053.4(ATP7B):c.3284A>G (p.Gln1095Arg)
|
|
|
NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp)
|
|
|
NM_000053.4(ATP7B):c.3304A>T (p.Ile1102Phe)
|
rs2138854011
|
|
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)
|
rs775541743
|
|
NM_000053.4(ATP7B):c.3413-20C>G
|
|
|
NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala)
|
rs2138787759
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.3532A>C (p.Thr1178Pro)
|
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3557-1G>A
|
|
|
NM_000053.4(ATP7B):c.3557-1G>C
|
rs2138674428
|
|
NM_000053.4(ATP7B):c.3584C>T (p.Ala1195Val)
|
rs2138671758
|
|
NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu)
|
rs200911496
|
|
NM_000053.4(ATP7B):c.3700-1G>A
|
rs1555284021
|
|
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)
|
rs1555283946
|
|
NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile)
|
rs121907990
|
|
NM_000053.4(ATP7B):c.3815C>A (p.Ser1272Tyr)
|
|
|
NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala)
|
rs1257330000
|
|
NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe)
|
|
|
NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe)
|
rs1555283732
|
|
NM_000053.4(ATP7B):c.3938T>C (p.Leu1313Pro)
|
|
|
NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly)
|
rs2138561490
|
|
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser)
|
rs760285767
|
|
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val)
|
rs1305262063
|
|
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)
|
rs1444841250
|
|
NM_000053.4(ATP7B):c.4124+5G>A
|
rs1321980462
|
|
NM_000053.4(ATP7B):c.52-1G>A
|
|
|