| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598647C>T | CA123101 | TTR | c.416C>T (p.Thr139Met) c.320C>T (p.Thr107Met) c.530C>T (p.Thr177Met) c.392C>T (p.Thr131Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598647C= | CA2293889370 | TTR | c.416C= (p.Thr139=) c.320C= (p.Thr107=) c.530C= (p.Thr177=) c.392C= (p.Thr131=) | dbSNP |