| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.182384557G>A | CA126191 | GLUL | c.970C>T (p.Arg324Cys) c.1372C>T (p.Arg458Cys) n.547C>T n.578C>T n.4469C>T c.*267C>T (n.*267C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.182384557G>T | CA128603 | GLUL | c.970C>A (p.Arg324Ser) c.1372C>A (p.Arg458Ser) n.547C>A n.578C>A n.4469C>A c.*267C>A (n.*267C>A) | ClinVar dbSNP |