| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.126577154G>A | CA3389728 | ALDH7A1 | c.575C>T (p.Thr192Met) c.451C>T (n.451C>T) c.*484C>T (n.*484C>T) c.164C>T c.509C>T (p.Thr170Met) c.123C>T n.1297C>T c.573C>T n.470C>T c.*384C>T (n.*384C>T) n.293C>T c.455C>T (p.Thr152Met) c.735C>T (n.735C>T) c.620C>T (p.Thr207Met) c.374C>T (p.Thr125Met) c.228C>T c.521C>T (p.Thr174Met) c.*517C>T (n.*517C>T) n.102C>T c.656C>T (p.Thr219Met) c.488C>T (p.Thr163Met) n.406C>T c.491C>T (p.Thr164Met) c.170C>T (p.Thr57Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.126577154G= | CA1580455196 | ALDH7A1 | c.575C= (p.Thr192=) c.451C= (n.451C=) c.*484C= (n.*484C=) c.164C= c.509C= (p.Thr170=) c.123C= n.1297C= c.573C= n.470C= c.*384C= (n.*384C=) n.293C= c.455C= (p.Thr152=) c.735C= (n.735C=) c.620C= (p.Thr207=) c.374C= (p.Thr125=) c.228C= c.521C= (p.Thr174=) c.*517C= (n.*517C=) n.102C= c.656C= (p.Thr219=) c.488C= (p.Thr163=) n.406C= c.491C= (p.Thr164=) c.170C= (p.Thr57=) | dbSNP |