NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00008
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
|
rs541408630
|
0.00003
|
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
|
rs374172791
|
0.00001
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)
|
rs28942075
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.2575+1G>C
|
rs766149114
|
0.00001
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
NM_000053.4(ATP7B):c.3556+1G>A
|
rs184388696
|
0.00001
|
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)
|
rs769484789
|
0.00001
|
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)
|
rs377144951
|
0.00001
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
NM_000053.4(ATP7B):c.44del (p.Ser15fs)
|
rs1192728612
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter)
|
rs2140071850
|
|
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs)
|
rs1060499593
|
|
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs)
|
rs772000260
|
|
NM_000053.4(ATP7B):c.1564del (p.Ala522fs)
|
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.2002del (p.Leu667_Met668insTer)
|
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)
|
rs1958499462
|
|
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)
|
rs1593726081
|
|
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)
|
rs121907997
|
|
NM_000053.4(ATP7B):c.2447+1G>T
|
rs1958431105
|
|
NM_000053.4(ATP7B):c.2730+1G>A
|
rs1057516425
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
NM_000053.4(ATP7B):c.3547_3548del (p.Ala1183fs)
|
|
|
NM_000053.4(ATP7B):c.3649del (p.Val1217fs)
|
|
|
NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)
|
|
|
NM_000053.4(ATP7B):c.4011dup (p.Ile1338fs)
|
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
NM_000053.4(ATP7B):c.421C>T (p.Gln141Ter)
|
|
|
NM_000053.4(ATP7B):c.918_931del (p.Ser307fs)
|
rs1951995448
|
|