| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598602G>A | CA179467 | TTR | c.371G>A (p.Arg124His) c.275G>A (p.Arg92His) c.485G>A (p.Arg162His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598602G= | CA2293889343 | TTR | c.371G= (p.Arg124=) c.275G= (p.Arg92=) c.485G= (p.Arg162=) | dbSNP |
| 18 | g.31598602G>T | CA402158181 | TTR | c.371G>T (p.Arg124Leu) c.275G>T (p.Arg92Leu) c.485G>T (p.Arg162Leu) | ClinVar dbSNP gnomAD v4 |