| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32136877A>G | CA253555 | SPAST | c.*982A>G (n.*982A>G) c.1322A>G (p.Asp441Gly) c.1319A>G (p.Asp440Gly) c.1059A>G c.1223A>G (p.Asp408Gly) c.1096A>G c.1064A>G (p.Asp355Gly) c.481-232A>G c.902A>G c.1198A>G c.968A>G (p.Asp323Gly) n.2059A>G c.772A>G c.593-232A>G c.968A>G c.1226A>G (p.Asp409Gly) n.1014A>G c.822A>G | ClinVar dbSNP |
| 2 | g.32136877A>T | CA346502158 | SPAST | c.*982A>T (n.*982A>T) c.1322A>T (p.Asp441Val) c.1319A>T (p.Asp440Val) c.1059A>T c.1223A>T (p.Asp408Val) c.1096A>T c.1064A>T (p.Asp355Val) c.481-232A>T c.902A>T c.1198A>T c.968A>T (p.Asp323Val) n.2059A>T c.772A>T c.593-232A>T c.968A>T c.1226A>T (p.Asp409Val) n.1014A>T c.822A>T | ClinVar dbSNP |