| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31595209C>A | CA256800 | TTR | c.290C>A (p.Ser97Tyr) c.194C>A (p.Ser65Tyr) n.316C>A | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595209C= | CA2293887838 | TTR | c.290C= (p.Ser97=) c.194C= (p.Ser65=) n.316C= | dbSNP |
| 18 | g.31595209C>T | CA402157070 | TTR | c.290C>T (p.Ser97Phe) c.194C>T (p.Ser65Phe) n.316C>T | ClinVar dbSNP |