| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.16003885C>T | CA129643 | TTC19 | c.517C>T (p.Gln173Ter) c.855C>T c.701C>T n.627C>T c.196C>T (p.Gln66Ter) n.2623-383G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.16003885C>G | CA398387173 | TTC19 | c.517C>G (p.Gln173Glu) c.855C>G c.701C>G n.627C>G c.196C>G (p.Gln66Glu) n.2623-383G>C | dbSNP |