| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51937579del | CA16041664 | ATP7B | c.*1450del (n.*1450del) c.*2544del (n.*2544del) c.3179del (p.Asp1060ValfsTer?) c.3800del (p.Asp1267ValfsTer?) c.3467del (p.Asp1156ValfsTer?) c.3548del (p.Asp1183ValfsTer?) n.1041del c.3566del (p.Asp1189ValfsTer?) n.3939del n.666del c.2735del (p.Asp912ValfsTer?) c.2510del (p.Asp837ValfsTer?) c.3605del (p.Asp1202ValfsTer?) c.1578del c.*901del (n.*901del) n.4544del n.3145del c.3656del (p.Asp1219ValfsTer?) c.3704del (p.Asp1235ValfsTer?) c.3764del (p.Asp1255ValfsTer?) c.3314del (p.Asp1105ValfsTer?) c.1616del (p.Asp539ValfsTer?) c.1433del (p.Asp478ValfsTer?) c.3665del (p.Asp1222ValfsTer?) c.3617del (p.Asp1206ValfsTer?) c.3386del (p.Asp1129ValfsTer?) c.3287del (p.Asp1096ValfsTer?) c.2468del (p.Asp823ValfsTer?) n.4019del | ClinVar dbSNP |
| 13 | g.51937579T= | CA2091554051 | ATP7B | c.*1450A= (n.*1450A=) c.*2544A= (n.*2544A=) c.3179A= (p.Asp1060=) c.3800A= (p.Asp1267=) c.3467A= (p.Asp1156=) c.3548A= (p.Asp1183=) n.1041A= c.3566A= (p.Asp1189=) n.3939A= n.666A= c.2735A= (p.Asp912=) c.2510A= (p.Asp837=) c.3605A= (p.Asp1202=) c.1578A= c.*901A= (n.*901A=) n.4544A= n.3145A= c.3656A= (p.Asp1219=) c.3704A= (p.Asp1235=) c.3764A= (p.Asp1255=) c.3314A= (p.Asp1105=) c.1616A= (p.Asp539=) c.1433A= (p.Asp478=) c.3665A= (p.Asp1222=) c.3617A= (p.Asp1206=) c.3386A= (p.Asp1129=) c.3287A= (p.Asp1096=) c.2468A= (p.Asp823=) n.4019A= | dbSNP dbSNP |