| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219418842G>C | CA133847 | DES | c.380G>C (p.Arg127Pro) | ClinVar dbSNP |
| 2 | g.219418842G= | CA1329210032 | DES | c.380G= (p.Arg127=) | dbSNP |
| 2 | g.219418842G>T | CA350685723 | DES | c.380G>T (p.Arg127Leu) | dbSNP gnomAD v4 |
| 2 | g.219418842G>A | CA350685731 | DES | c.380G>A (p.Arg127His) | ClinVar dbSNP gnomAD v4 |