| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32128450A>G | CA253568 | SPAST | c.*876A>G (n.*876A>G) c.1216A>G (p.Ile406Val) c.1213A>G (p.Ile405Val) c.983-8113A>G c.1117A>G (p.Ile373Val) c.990A>G c.958A>G (p.Ile320Val) c.375A>G c.796A>G c.1092A>G c.862A>G (p.Ile288Val) n.1953A>G n.429A>G c.666A>G c.563A>G c.862A>G c.1120A>G (p.Ile374Val) n.908A>G c.716A>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.32128450A= | CA1242498136 | SPAST | c.*876A= (n.*876A=) c.1216A= (p.Ile406=) c.1213A= (p.Ile405=) c.983-8113A= c.1117A= (p.Ile373=) c.990A= c.958A= (p.Ile320=) c.375A= c.796A= c.1092A= c.862A= (p.Ile288=) n.1953A= n.429A= c.666A= c.563A= c.862A= c.1120A= (p.Ile374=) n.908A= c.716A= | dbSNP |