| 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 |
| 2 | g.32136593C= | CA1242501179 | SPAST | c.*936C= (n.*936C=) c.1276C= (p.Leu426=) c.1273C= (p.Leu425=) c.1013C= c.1177C= (p.Leu393=) c.1050C= c.1018C= (p.Leu340=) c.435C= c.856C= c.1152C= c.922C= (p.Leu308=) n.2013C= c.726C= c.593-516C= c.922C= c.1180C= (p.Leu394=) n.968C= c.776C= | dbSNP |