| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219425727C>A | CA431285597 | DES | n.827C>A n.741C>A c.1353C>A (p.Ile451=) n.208C>A c.1350C>A (p.Ile450=) c.921C>A (p.Ile307=) c.1284C>A (p.Ile428=) c.1332C>A (p.Ile444=) c.1083C>A (p.Ile361=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219425727C>T | CA2125305 | DES | n.827C>T n.741C>T c.1353C>T (p.Ile451=) n.208C>T c.1350C>T (p.Ile450=) c.921C>T (p.Ile307=) c.1284C>T (p.Ile428=) c.1332C>T (p.Ile444=) c.1083C>T (p.Ile361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.219425727C>G | CA257644 | DES | n.827C>G n.741C>G c.1353C>G (p.Ile451Met) n.208C>G c.1350C>G (p.Ile450Met) c.921C>G (p.Ile307Met) c.1284C>G (p.Ile428Met) c.1332C>G (p.Ile444Met) c.1083C>G (p.Ile361Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |