| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55957329C>A | CA6620093 | PMEL | c.974G>T (p.Gly325Val) c.827G>T (p.Gly276Val) c.812G>T (p.Gly271Val) c.527G>T (p.Gly176Val) c.636G>T n.14G>T c.358+1144G>T (n.358+1144G>T) c.716G>T (p.Gly239Val) n.710G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957329C= | CA2038181512 | PMEL | c.974G= (p.Gly325=) c.827G= (p.Gly276=) c.812G= (p.Gly271=) c.527G= (p.Gly176=) c.636G= n.14G= c.358+1144G= (n.358+1144G=) c.716G= (p.Gly239=) n.710G= | dbSNP |