NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr)
|
rs146599962
|
0.00657
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_001374385.1(ATP8B1):c.3016-19A>G
|
rs139202277
|
0.00210
|
NM_001374385.1(ATP8B1):c.2931+14G>A
|
rs34451179
|
0.00101
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_001374385.1(ATP8B1):c.2286-2A>G
|
rs377132123
|
0.00005
|
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser)
|
rs755385749
|
0.00004
|
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)
|
rs374340059
|
0.00004
|
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)
|
rs121909098
|
0.00003
|
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)
|
rs144656719
|
0.00002
|
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)
|
rs1202682161
|
0.00001
|
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)
|
rs121909105
|
0.00001
|
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val)
|
rs1555689790
|
0.00001
|
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)
|
rs515726137
|
0.00001
|
NM_001374385.1(ATP8B1):c.2097+2T>C
|
rs387906381
|
0.00001
|
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=)
|
rs761575295
|
0.00001
|
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer)
|
rs752757689
|
0.00001
|
NM_001374385.1(ATP8B1):c.2932-3C>A
|
rs1057523495
|
0.00001
|
NM_001374385.1(ATP8B1):c.1081del (p.Tyr361fs)
|
|
|
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs)
|
rs1912544280
|
|
NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)
|
|
|
NM_001374385.1(ATP8B1):c.1246_1247del (p.His417fs)
|
|
|
NM_001374385.1(ATP8B1):c.1429+1G>T
|
|
|
NM_001374385.1(ATP8B1):c.1553C>G (p.Ser518Ter)
|
|
|
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del)
|
rs756395915
|
|
NM_001374385.1(ATP8B1):c.1781T>A (p.Leu594Ter)
|
|
|
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
|
|
|
NM_001374385.1(ATP8B1):c.1884del (p.Leu629fs)
|
|
|
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)
|
rs775370485
|
|
NM_001374385.1(ATP8B1):c.1932+1G>A
|
rs1568188537
|
|
NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)
|
|
|
NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
|
|
|
NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
|
|
|
NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del)
|
rs2122653939
|
|
NM_001374385.1(ATP8B1):c.2418+5G>A
|
|
|
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
|
|
|
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met)
|
rs540027832
|
|
NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)
|
|
|
NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)
|
|
|
NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)
|
|
|
NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)
|
|
|
NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
|
|
|
NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)
|
|
|
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)
|
rs781213892
|
|
NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)
|
|
|
NM_001374385.1(ATP8B1):c.3400+2T>C
|
|
|
NM_001374385.1(ATP8B1):c.3490C>T (p.Arg1164Ter)
|
|
|
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr)
|
rs946672182
|
|
NM_001374385.1(ATP8B1):c.3531+1G>A
|
|
|
NM_001374385.1(ATP8B1):c.423G>A (p.Trp141Ter)
|
|
|
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs)
|
rs1912903065
|
|
NM_001374385.1(ATP8B1):c.699-2A>G
|
|
|
NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)
|
|
|
NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)
|
|
|
NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
|
|
|
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
|
|
|
NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)
|
|
|