| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219418599C>T | CA217055 | DES | c.137C>T (p.Ser46Phe) | ClinVar dbSNP |
| 2 | g.219418599C>A | CA217053 | DES | c.137C>A (p.Ser46Tyr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.219418599C>G | CA350683275 | DES | c.137C>G (p.Ser46Cys) | dbSNP gnomAD v4 |
| 2 | g.219418599C= | CA1329209882 | DES | c.137C= (p.Ser46=) | dbSNP |