| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80105870G>A | CA145791 | GAA | c.668G>A (p.Arg223His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105870G>C | CA401362510 | GAA | c.668G>C (p.Arg223Pro) | dbSNP gnomAD v4 |
| 17 | g.80105870G>T | CA401362512 | GAA | c.668G>T (p.Arg223Leu) | dbSNP gnomAD v4 |
| 17 | g.80105870G= | CA2277811286 | GAA | c.668G= (p.Arg223=) | dbSNP |