| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598610A>G | CA256843 | TTR | c.379A>G (p.Ile127Val) c.283A>G (p.Ile95Val) c.493A>G (p.Ile165Val) c.375+4A>G (n.375+4A>G) | ClinVar dbSNP |
| 18 | g.31598610A= | CA2293889348 | TTR | c.379A= (p.Ile127=) c.283A= (p.Ile95=) c.493A= (p.Ile165=) c.375+4A= (n.375+4A=) | dbSNP |