| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598655G>A | CA214382 | TTR | c.424G>A (p.Val142Ile) c.328G>A (p.Val110Ile) c.538G>A (p.Val180Ile) c.400G>A (p.Val134Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598655G>T | CA402158278 | TTR | c.424G>T (p.Val142Phe) c.328G>T (p.Val110Phe) c.538G>T (p.Val180Phe) c.400G>T (p.Val134Phe) | dbSNP |
| 18 | g.31598655G= | CA2293889375 | TTR | c.424G= (p.Val142=) c.328G= (p.Val110=) c.538G= (p.Val180=) c.400G= (p.Val134=) | dbSNP |