| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31595247C>G | CA402157147 | TTR | c.328C>G (p.His110Asp) c.232C>G (p.His78Asp) n.354C>G | ClinVar dbSNP |
| 18 | g.31595247C>A | CA179461 | TTR | c.328C>A (p.His110Asn) c.232C>A (p.His78Asn) n.354C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595247C= | CA2293887857 | TTR | c.328C= (p.His110=) c.232C= (p.His78=) n.354C= | dbSNP |