NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)
|
rs186924074
|
0.00059
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del)
|
rs772383075
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
0.00002
|
NM_000053.4(ATP7B):c.1708-1G>C
|
rs137853280
|
0.00001
|
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter)
|
rs780292767
|
0.00001
|
NM_000053.4(ATP7B):c.2865+1G>A
|
rs587783306
|
0.00001
|
NM_000053.4(ATP7B):c.3556+1G>A
|
rs184388696
|
0.00001
|
NM_000053.4(ATP7B):c.372C>A (p.Ser124Arg)
|
rs1489384071
|
0.00001
|
NM_000053.4(ATP7B):c.1397_1403del (p.Leu466fs)
|
|
|
NM_000053.4(ATP7B):c.1465A>T (p.Lys489Ter)
|
|
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NM_000053.4(ATP7B):c.1475del (p.Leu492fs)
|
|
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NM_000053.4(ATP7B):c.1497T>A (p.Cys499Ter)
|
|
|
NM_000053.4(ATP7B):c.1580del (p.Lys527fs)
|
|
|
NM_000053.4(ATP7B):c.1596T>A (p.Tyr532Ter)
|
rs1951683498
|
|
NM_000053.4(ATP7B):c.167dup (p.Val57fs)
|
|
|
NM_000053.4(ATP7B):c.1699G>T (p.Glu567Ter)
|
rs1454088856
|
|
NM_000053.4(ATP7B):c.1727_1728del (p.Ala576fs)
|
|
|
NM_000053.4(ATP7B):c.1738del (p.His580fs)
|
|
|
NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter)
|
rs1951466736
|
|
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu)
|
rs1555291809
|
|
NM_000053.4(ATP7B):c.218_219del (p.Val73fs)
|
|
|
NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter)
|
rs1952035259
|
|
NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter)
|
rs1952034577
|
|
NM_000053.4(ATP7B):c.2512_2513del (p.Lys838fs)
|
|
|
NM_000053.4(ATP7B):c.2673del (p.Asn892fs)
|
|
|
NM_000053.4(ATP7B):c.2687del (p.Leu896fs)
|
|
|
NM_000053.4(ATP7B):c.2885_2895del (p.Ser962fs)
|
|
|
NM_000053.4(ATP7B):c.2915_2916delinsA (p.Phe972fs)
|
|
|
NM_000053.4(ATP7B):c.2947_2950del (p.Cys983fs)
|
|
|
NM_000053.4(ATP7B):c.2949C>A (p.Cys983Ter)
|
rs1957660801
|
|
NM_000053.4(ATP7B):c.2964del (p.Leu989fs)
|
|
|
NM_000053.4(ATP7B):c.3027_3028del (p.Lys1010fs)
|
|
|
NM_000053.4(ATP7B):c.3163A>T (p.Lys1055Ter)
|
rs1957512345
|
|
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)
|
rs1957506216
|
|
NM_000053.4(ATP7B):c.3265G>T (p.Gly1089Ter)
|
|
|
NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)
|
|
|
NM_000053.4(ATP7B):c.3313A>T (p.Lys1105Ter)
|
rs1957395448
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3463_3464del (p.Arg1155fs)
|
|
|
NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter)
|
rs995516204
|
|
NM_000053.4(ATP7B):c.3583_3584del (p.Ala1195fs)
|
|
|
NM_000053.4(ATP7B):c.3707del (p.Ile1236fs)
|
|
|
NM_000053.4(ATP7B):c.3741_3742del (p.His1247fs)
|
|
|
NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)
|
|
|
NM_000053.4(ATP7B):c.3782_3791del (p.Lys1261fs)
|
|
|
NM_000053.4(ATP7B):c.3935_3936del (p.His1312fs)
|
|
|
NM_000053.4(ATP7B):c.413T>A (p.Leu138Ter)
|
|
|
NM_000053.4(ATP7B):c.416dup (p.Ala140fs)
|
|
|
NM_000053.4(ATP7B):c.482_483delinsA (p.Ile161fs)
|
|
|
NM_000053.4(ATP7B):c.505C>T (p.Gln169Ter)
|
rs1952020122
|
|
NM_000053.4(ATP7B):c.531_535del (p.Leu178fs)
|
|
|
NM_000053.4(ATP7B):c.533_534del (p.Leu178fs)
|
|
|
NM_000053.4(ATP7B):c.590_591del (p.Leu197fs)
|
|
|
NM_000053.4(ATP7B):c.763dup (p.His255fs)
|
|
|
NM_000053.4(ATP7B):c.782_783del (p.Leu261fs)
|
|
|
NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter)
|
rs577406734
|
|