| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219420652C>T | CA217093 | DES | n.367C>T n.281C>T c.893C>T (p.Ser298Leu) n.365C>T n.288C>T c.890C>T (p.Ser297Leu) c.735+306C>T (n.735+306C>T) c.623C>T (p.Ser208Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219420652C= | CA1329210924 | DES | n.367C= n.281C= c.893C= (p.Ser298=) n.365C= n.288C= c.890C= (p.Ser297=) c.735+306C= (n.735+306C=) c.623C= (p.Ser208=) | dbSNP |
| 2 | g.219420652C>G | CA350691975 | DES | n.367C>G n.281C>G c.893C>G (p.Ser298Trp) n.365C>G n.288C>G c.890C>G (p.Ser297Trp) c.735+306C>G (n.735+306C>G) c.623C>G (p.Ser208Trp) | dbSNP gnomAD v4 |