| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.6868113C>T | CA10571912 | AMELY | c.497G>A (p.Arg166Gln) c.539G>A (p.Arg180Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.6868113C= | CA2469903207 | AMELY | c.497G= (p.Arg166=) c.539G= (p.Arg180=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.6868113C>T | CA10571912 | AMELY | c.497G>A (p.Arg166Gln) c.539G>A (p.Arg180Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.6868113C= | CA2469903207 | AMELY | c.497G= (p.Arg166=) c.539G= (p.Arg180=) | dbSNP |