| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31595127A>C | CA260564 | TTR | c.208A>C (p.Ser70Arg) c.112A>C (p.Ser38Arg) n.234A>C | ClinVar dbSNP |
| 18 | g.31595127A>G | CA8928439 | TTR | c.208A>G (p.Ser70Gly) c.112A>G (p.Ser38Gly) n.234A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31595127A= | CA2293887789 | TTR | c.208A= (p.Ser70=) c.112A= (p.Ser38=) n.234A= | dbSNP |