| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32136593C>T | CA346502047 | SPAST | c.*936C>T (n.*936C>T) c.1276C>T (p.Leu426Phe) c.1273C>T (p.Leu425Phe) c.1013C>T c.1177C>T (p.Leu393Phe) c.1050C>T c.1018C>T (p.Leu340Phe) c.435C>T c.856C>T c.1152C>T c.922C>T (p.Leu308Phe) n.2013C>T c.726C>T c.593-516C>T c.922C>T c.1180C>T (p.Leu394Phe) n.968C>T c.776C>T | ClinVar dbSNP |
| 2 | g.32136593C>G | CA16610830 | SPAST | c.*936C>G (n.*936C>G) c.1276C>G (p.Leu426Val) c.1273C>G (p.Leu425Val) c.1013C>G c.1177C>G (p.Leu393Val) c.1050C>G c.1018C>G (p.Leu340Val) c.435C>G c.856C>G c.1152C>G c.922C>G (p.Leu308Val) n.2013C>G c.726C>G c.593-516C>G c.922C>G c.1180C>G (p.Leu394Val) n.968C>G c.776C>G | ClinVar dbSNP COSMIC |