| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219421559C>T | CA308281 | DES | n.717C>T n.631C>T c.1243C>T (p.Arg415Trp) n.715C>T n.638C>T c.1240C>T (p.Arg414Trp) c.811C>T (p.Arg271Trp) c.1174C>T (p.Arg392Trp) c.1222C>T (p.Arg408Trp) c.973C>T (p.Arg325Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219421559C>G | CA350695130 | DES | n.717C>G n.631C>G c.1243C>G (p.Arg415Gly) n.715C>G n.638C>G c.1240C>G (p.Arg414Gly) c.811C>G (p.Arg271Gly) c.1174C>G (p.Arg392Gly) c.1222C>G (p.Arg408Gly) c.973C>G (p.Arg325Gly) | ClinVar dbSNP |
| 2 | g.219421559C= | CA1329211356 | DES | n.717C= n.631C= c.1243C= (p.Arg415=) n.715C= n.638C= c.1240C= (p.Arg414=) c.811C= (p.Arg271=) c.1174C= (p.Arg392=) c.1222C= (p.Arg408=) c.973C= (p.Arg325=) | dbSNP |