| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.41257616C>A | CA256260 | UCHL1 | c.53C>A (p.Ser18Tyr) n.604C>A n.577C>A n.320C>A c.52C>A (p.Pro18Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41257616C= | CA2580589018 | UCHL1 | c.53C= (p.Ser18=) n.604C= n.577C= n.320C= c.52C= (p.Pro18=) | dbSNP |
| 4 | g.41257616C>G | CA356731587 | UCHL1 | c.53C>G (p.Ser18Cys) n.604C>G n.577C>G n.320C>G c.52C>G (p.Pro18Ala) | dbSNP |