| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23341652G>A | CA16041648 | SACS | c.2185+12133C>T (n.2185+12133C>T) c.2251C>T (p.Arg751Ter) c.2215C>T (p.Arg739Ter) c.2176+12133C>T (n.2176+12133C>T) c.2224C>T (p.Arg742Ter) c.2203+5159C>T (n.2203+5159C>T) n.4542+12133C>T c.2220+5159C>T (n.2220+5159C>T) c.-27C>T (n.-27C>T) c.1057+12133C>T (n.1057+12133C>T) c.1922C>T c.1783C>T (p.Arg595Ter) c.2275C>T (p.Arg759Ter) c.2242C>T (p.Arg748Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23341652G= | CA2078644938 | SACS | c.2185+12133C= (n.2185+12133C=) c.2251C= (p.Arg751=) c.2215C= (p.Arg739=) c.2176+12133C= (n.2176+12133C=) c.2224C= (p.Arg742=) c.2203+5159C= (n.2203+5159C=) n.4542+12133C= c.2220+5159C= (n.2220+5159C=) c.-27C= (n.-27C=) c.1057+12133C= (n.1057+12133C=) c.1922C= c.1783C= (p.Arg595=) c.2275C= (p.Arg759=) c.2242C= (p.Arg748=) | dbSNP |