| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.126595022C>T | CA16618103 | ALDH7A1 | c.177G>A (p.Trp59Ter) c.91G>A c.50G>A c.175G>A n.206G>A n.72G>A n.56G>A c.258G>A (p.Trp86Ter) c.171G>A (p.Trp57Ter) n.132G>A c.93G>A (p.Trp31Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.126595022C>A | CA360733677 | ALDH7A1 | c.177G>T (p.Trp59Cys) c.91G>T c.50G>T c.175G>T n.206G>T n.72G>T n.56G>T c.258G>T (p.Trp86Cys) c.171G>T (p.Trp57Cys) n.132G>T c.93G>T (p.Trp31Cys) | dbSNP gnomAD v4 |
| 5 | g.126595022C= | CA1580462890 | ALDH7A1 | c.177G= (p.Trp59=) c.91G= c.50G= c.175G= n.206G= n.72G= n.56G= c.258G= (p.Trp86=) c.171G= (p.Trp57=) n.132G= c.93G= (p.Trp31=) | dbSNP |
| 5 | g.126595022C>G | CA360733678 | ALDH7A1 | c.177G>C (p.Trp59Cys) c.91G>C c.50G>C c.175G>C n.206G>C n.72G>C n.56G>C c.258G>C (p.Trp86Cys) c.171G>C (p.Trp57Cys) n.132G>C c.93G>C (p.Trp31Cys) | dbSNP gnomAD v4 |