| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.182384506G>A | CA126193 | GLUL | c.1021C>T (p.Arg341Cys) c.1423C>T (p.Arg475Cys) n.598C>T n.629C>T n.4520C>T c.*318C>T (n.*318C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.182384506G= | CA1141188412 | GLUL | c.1021C= (p.Arg341=) c.1423C= (p.Arg475=) n.598C= n.629C= n.4520C= c.*318C= (n.*318C=) | dbSNP |