NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)
|
rs201061621
|
0.00032
|
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
|
rs189601972
|
0.00025
|
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp)
|
rs557577836
|
0.00016
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)
|
rs200728096
|
0.00011
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile)
|
rs761147984
|
0.00003
|
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His)
|
rs773917820
|
0.00003
|
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg)
|
rs786204547
|
0.00003
|
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr)
|
rs758025913
|
0.00003
|
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.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)
|
rs769927137
|
0.00001
|
NM_000053.4(ATP7B):c.2355+4A>G
|
rs776572343
|
0.00001
|
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro)
|
rs1555288410
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2945C>T (p.Ala982Val)
|
rs1487547257
|
0.00001
|
NM_000053.4(ATP7B):c.3051G>A (p.Met1017Ile)
|
rs755851188
|
0.00001
|
NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser)
|
rs1423701688
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)
|
rs755202606
|
0.00001
|
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)
|
rs373748155
|
0.00001
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)
|
rs1131691741
|
0.00001
|
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp)
|
rs1305262063
|
0.00001
|
NM_000053.3(ATP7B):c.-127_-126GC[2][1]
|
rs1322135702
|
|
NM_000053.3(ATP7B):c.-128_-127insGCCGT
|
rs766338038
|
|
NM_000053.3(ATP7B):c.-676_-659dup
|
rs1555304816
|
|
NM_000053.4(ATP7B):c.-388C>T
|
rs913869716
|
|
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)
|
rs572122562
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
NM_000053.4(ATP7B):c.2057ACA[1] (p.Asn687del)
|
rs770107276
|
|
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)
|
rs1212479289
|
|
NM_000053.4(ATP7B):c.2094CTT[1] (p.Phe700del)
|
rs1555291787
|
|
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)
|
rs1555291285
|
|
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His)
|
rs1555291272
|
|
NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro)
|
rs1555291265
|
|
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser)
|
rs1555291181
|
|
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)
|
rs766907687
|
|
NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val)
|
rs1217463955
|
|
NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg)
|
rs1555291085
|
|
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe)
|
rs1555290883
|
|
NM_000053.4(ATP7B):c.2480G>C (p.Arg827Pro)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly)
|
rs1555288669
|
|
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp)
|
rs483352684
|
|
NM_000053.4(ATP7B):c.268_270del (p.Lys90del)
|
rs751970838
|
|
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)
|
rs28942076
|
|
NM_000053.4(ATP7B):c.2845GTT[1] (p.Val950del)
|
rs1424494639
|
|
NM_000053.4(ATP7B):c.2975C>A (p.Pro992His)
|
rs201038679
|
|
NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser)
|
rs1555287372
|
|
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala)
|
rs1416453532
|
|
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)
|
rs778543794
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)
|
rs1555285911
|
|
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del)
|
rs1555285393
|
|
NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly)
|
rs755554442
|
|
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser)
|
rs777879359
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)
|
rs1555284582
|
|
NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly)
|
rs1555284575
|
|
NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala)
|
rs587783316
|
|
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)
|
rs1555283946
|
|
NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val)
|
rs1555283882
|
|
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)
|
rs778914828
|
|
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del)
|
rs1555283826
|
|
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)
|
rs373748155
|
|
NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr)
|
rs760285767
|
|
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)
|
rs1555282751
|
|
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)
|
rs1555282678
|
|
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)
|
rs780811477
|
|
NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser)
|
rs1365425480
|
|
NM_000053.4(ATP7B):c.4325del (p.Ser1442fs)
|
rs774744497
|
|
NM_000053.4(ATP7B):c.432_434del (p.Val145del)
|
rs1555296674
|
|
NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs)
|
rs1555282097
|
|
NM_000053.4(ATP7B):c.433G>T (p.Val145Phe)
|
rs183365083
|
|
NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter)
|
rs1392030070
|
|
NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del)
|
rs1417723997
|
|
NM_001243182.1(ATP7B):c.-117delinsATCGGC
|
rs1555304632
|
|