| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219425720A>C | CA217038 | DES | n.820A>C n.734A>C c.1346A>C (p.Lys449Thr) n.201A>C c.1343A>C (p.Lys448Thr) c.914A>C (p.Lys305Thr) c.1277A>C (p.Lys426Thr) c.1325A>C (p.Lys442Thr) c.1076A>C (p.Lys359Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.219425720A= | CA1329213127 | DES | n.820A= n.734A= c.1346A= (p.Lys449=) n.201A= c.1343A= (p.Lys448=) c.914A= (p.Lys305=) c.1277A= (p.Lys426=) c.1325A= (p.Lys442=) c.1076A= (p.Lys359=) | dbSNP |