| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31595184T>C | CA123120 | TTR | c.265T>C (p.Tyr89His) c.169T>C (p.Tyr57His) n.291T>C | ClinVar dbSNP |
| 18 | g.31595184T= | CA2293887826 | TTR | c.265T= (p.Tyr89=) c.169T= (p.Tyr57=) n.291T= | dbSNP |
| 18 | g.31595184T>A | CA402157014 | TTR | c.265T>A (p.Tyr89Asn) c.169T>A (p.Tyr57Asn) n.291T>A | dbSNP gnomAD v4 |