| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51974697dup | CA6989546 | ATP7B | c.525dup (p.Val176SerfsTer28) n.630dup c.81dup (p.Val28SerfsTer28) n.646dup n.212-28217dup c.429dup (p.Val144SerfsTer28) c.489dup (p.Val164SerfsTer28) n.744dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51974696_51974697del | CA274227 | ATP7B | c.524_525del (p.Lys175SerfsTer28) n.629_630del c.80_81del (p.Lys27SerfsTer28) n.645_646del n.212-28218_212-28217del c.428_429del (p.Lys143SerfsTer28) c.488_489del (p.Lys163SerfsTer28) n.743_744del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51974697del | CA1139663322 | ATP7B | c.525del (p.Val176SerfsTer26) n.630del c.81del (p.Val28SerfsTer26) n.646del n.212-28217del c.429del (p.Val144SerfsTer26) c.489del (p.Val164SerfsTer26) n.744del | ClinVar dbSNP |