| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.43972242A>T | CA411852017 | SAMM50 | c.329A>T (p.Asp110Val) n.511A>T | dbSNP |
| 22 | g.43972242A>G | CA10278449 | SAMM50 | c.329A>G (p.Asp110Gly) n.511A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.43972242A>T | CA411852017 | SAMM50 | c.329A>T (p.Asp110Val) n.511A>T | dbSNP |
| 22 | g.43972242A>G | CA10278449 | SAMM50 | c.329A>G (p.Asp110Gly) n.511A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |