| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80112033C>T | CA16041895 | GAA | c.1687C>T (p.Gln563Ter) c.75C>T n.301C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112033C>G | CA401368992 | GAA | c.1687C>G (p.Gln563Glu) c.75C>G n.301C>G | dbSNP gnomAD v4 |
| 17 | g.80112033C= | CA2277814749 | GAA | c.1687C= (p.Gln563=) c.75C= n.301C= | dbSNP |