| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32144954C>G | CA358251 | SPAST | c.*1294C>G (n.*1294C>G) c.1634C>G (p.Ser545Ter) c.1631C>G (p.Ser544Ter) c.1371C>G c.1535C>G (p.Ser512Ter) c.1390+1539C>G c.1376C>G (p.Ser459Ter) c.1214C>G c.1510C>G c.1280C>G (p.Ser427Ter) n.2371C>G c.1066+1539C>G c.813C>G c.1280C>G c.1538C>G (p.Ser513Ter) n.1326C>G c.1134C>G c.1616+1539C>G (n.1616+1539C>G) c.1520+1539C>G (n.1520+1539C>G) | ClinVar dbSNP |
| 2 | g.32144954C>T | CA346504190 | SPAST | c.*1294C>T (n.*1294C>T) c.1634C>T (p.Ser545Leu) c.1631C>T (p.Ser544Leu) c.1371C>T c.1535C>T (p.Ser512Leu) c.1390+1539C>T c.1376C>T (p.Ser459Leu) c.1214C>T c.1510C>T c.1280C>T (p.Ser427Leu) n.2371C>T c.1066+1539C>T c.813C>T c.1280C>T c.1538C>T (p.Ser513Leu) n.1326C>T c.1134C>T c.1616+1539C>T (n.1616+1539C>T) c.1520+1539C>T (n.1520+1539C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.32144954C= | CA1242505886 | SPAST | c.*1294C= (n.*1294C=) c.1634C= (p.Ser545=) c.1631C= (p.Ser544=) c.1371C= c.1535C= (p.Ser512=) c.1390+1539C= c.1376C= (p.Ser459=) c.1214C= c.1510C= c.1280C= (p.Ser427=) n.2371C= c.1066+1539C= c.813C= c.1280C= c.1538C= (p.Ser513=) n.1326C= c.1134C= c.1616+1539C= (n.1616+1539C=) c.1520+1539C= (n.1520+1539C=) | dbSNP |