| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55957309C>T | CA6620091 | PMEL | c.994G>A (p.Val332Ile) c.847G>A (p.Val283Ile) c.832G>A (p.Val278Ile) c.547G>A (p.Val183Ile) c.656G>A n.34G>A c.358+1164G>A (n.358+1164G>A) c.736G>A (p.Val246Ile) n.730G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957309C= | CA2038181492 | PMEL | c.994G= (p.Val332=) c.847G= (p.Val283=) c.832G= (p.Val278=) c.547G= (p.Val183=) c.656G= n.34G= c.358+1164G= (n.358+1164G=) c.736G= (p.Val246=) n.730G= | dbSNP |