| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219420116del | CA273550 | DES | n.74del c.600del (p.Lys201ArgfsTer20) n.72del c.600del (p.Lys201ArgfsTer19) c.496-409del (n.496-409del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.219420116G= | CA1329210640 | DES | n.74G= c.600G= (p.Leu200=) n.72G= c.496-409G= (n.496-409G=) | dbSNP dbSNP |