| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.6868402C>T | CA10571932 | AMELY | c.208G>A (p.Val70Met) c.250G>A (p.Val84Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.6868402C>A | CA10571933 | AMELY | c.208G>T (p.Val70Leu) c.250G>T (p.Val84Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.6868402C= | CA2469903243 | AMELY | c.208G= (p.Val70=) c.250G= (p.Val84=) | dbSNP |