| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598581C>G | CA256841 | TTR | c.350C>G (p.Ala117Gly) c.254C>G (p.Ala85Gly) c.464C>G (p.Ala155Gly) | ClinVar dbSNP |
| 18 | g.31598581C>A | CA402158146 | TTR | c.350C>A (p.Ala117Asp) c.254C>A (p.Ala85Asp) c.464C>A (p.Ala155Asp) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31598581C= | CA2293889328 | TTR | c.350C= (p.Ala117=) c.254C= (p.Ala85=) c.464C= (p.Ala155=) | dbSNP |