| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219425699C>T | CA217036 | DES | n.799C>T n.713C>T c.1325C>T (p.Thr442Ile) n.180C>T c.1322C>T (p.Thr441Ile) c.893C>T (p.Thr298Ile) c.1256C>T (p.Thr419Ile) c.1304C>T (p.Thr435Ile) c.1055C>T (p.Thr352Ile) | ClinVar dbSNP |
| 2 | g.219425699C>A | CA350698515 | DES | n.799C>A n.713C>A c.1325C>A (p.Thr442Asn) n.180C>A c.1322C>A (p.Thr441Asn) c.893C>A (p.Thr298Asn) c.1256C>A (p.Thr419Asn) c.1304C>A (p.Thr435Asn) c.1055C>A (p.Thr352Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |