Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51939090dup | CA2573149700 | ATP7B | c.*1314dup (n.*1314dup) c.*2408dup (n.*2408dup) c.3043dup (p.Asp1015GlyfsTer?) c.3664dup (p.Asp1222GlyfsTer?) c.3331dup (p.Asp1111GlyfsTer?) c.3412dup (p.Asp1138GlyfsTer?) n.905dup c.3430dup (p.Asp1144GlyfsTer?) n.3803dup n.530dup c.2599dup (p.Asp867GlyfsTer?) c.2374dup (p.Asp792GlyfsTer?) c.3469dup (p.Asp1157GlyfsTer?) c.1442dup c.*765dup (n.*765dup) n.4408dup n.3009dup c.3520dup (p.Asp1174GlyfsTer?) c.3568dup (p.Asp1190GlyfsTer?) c.3628dup (p.Asp1210GlyfsTer?) c.3178dup (p.Asp1060GlyfsTer?) c.1480dup (p.Asp494GlyfsTer?) c.1297dup (p.Asp433GlyfsTer?) c.3529dup (p.Asp1177GlyfsTer?) c.3481dup (p.Asp1161GlyfsTer?) c.3250dup (p.Asp1084GlyfsTer?) c.3151dup (p.Asp1051GlyfsTer?) c.2332dup (p.Asp778GlyfsTer?) n.3883dup | ClinVar dbSNP |
13 | g.51939090del | CA10604343 | ATP7B | c.*1314del (n.*1314del) c.*2408del (n.*2408del) c.3043del (p.Asp1015ThrfsTer?) c.3664del (p.Asp1222ThrfsTer?) c.3331del (p.Asp1111ThrfsTer?) c.3412del (p.Asp1138ThrfsTer?) n.905del c.3430del (p.Asp1144ThrfsTer?) n.3803del n.530del c.2599del (p.Asp867ThrfsTer?) c.2374del (p.Asp792ThrfsTer?) c.3469del (p.Asp1157ThrfsTer?) c.1442del c.*765del (n.*765del) n.4408del n.3009del c.3520del (p.Asp1174ThrfsTer?) c.3568del (p.Asp1190ThrfsTer?) c.3628del (p.Asp1210ThrfsTer?) c.3178del (p.Asp1060ThrfsTer?) c.1480del (p.Asp494ThrfsTer?) c.1297del (p.Asp433ThrfsTer?) c.3529del (p.Asp1177ThrfsTer?) c.3481del (p.Asp1161ThrfsTer?) c.3250del (p.Asp1084ThrfsTer?) c.3151del (p.Asp1051ThrfsTer?) c.2332del (p.Asp778ThrfsTer?) n.3883del | ClinVar dbSNP |
13 | g.51939088_51939090del | CA658823699 | ATP7B | c.*1312_*1314del (n.*1312_*1314del) c.*2406_*2408del (n.*2406_*2408del) c.3041_3043del (p.Gly1014del) c.3662_3664del (p.Gly1221del) c.3329_3331del (p.Gly1110del) c.3410_3412del (p.Gly1137del) n.903_905del c.3428_3430del (p.Gly1143del) n.3801_3803del n.528_530del c.2597_2599del (p.Gly866del) c.2372_2374del (p.Gly791del) c.3467_3469del (p.Gly1156del) c.1440_1442del c.*763_*765del (n.*763_*765del) n.4406_4408del n.3007_3009del c.3518_3520del (p.Gly1173del) c.3566_3568del (p.Gly1189del) c.3626_3628del (p.Gly1209del) c.3176_3178del (p.Gly1059del) c.1478_1480del (p.Gly493del) c.1295_1297del (p.Gly432del) c.3527_3529del (p.Gly1176del) c.3479_3481del (p.Gly1160del) c.3248_3250del (p.Gly1083del) c.3149_3151del (p.Gly1050del) c.2330_2332del (p.Gly777del) n.3881_3883del | ClinVar dbSNP |