| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31595128G>A | CA8928440 | TTR | c.209G>A (p.Ser70Asn) c.113G>A (p.Ser38Asn) n.235G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595128G>T | CA256823 | TTR | c.209G>T (p.Ser70Ile) c.113G>T (p.Ser38Ile) n.235G>T | ClinVar dbSNP |
| 18 | g.31595128G= | CA2293887790 | TTR | c.209G= (p.Ser70=) c.113G= (p.Ser38=) n.235G= | dbSNP |