| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132882609C>T | CA210703 | TG | c.886C>T (p.Arg296Ter) n.239C>T c.625C>T (p.Arg209Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132882609C= | CA1820989946 | TG | c.886C= (p.Arg296=) n.239C= c.625C= (p.Arg209=) | dbSNP |
| 8 | g.132882609C>G | CA372227679 | TG | c.886C>G (p.Arg296Gly) n.239C>G c.625C>G (p.Arg209Gly) | dbSNP gnomAD v4 |