| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32127017A>G | CA204591 | SPAST | c.*828A>G (n.*828A>G) c.1168A>G (p.Met390Val) c.1165A>G (p.Met389Val) c.983-9546A>G c.1069A>G (p.Met357Val) c.942A>G c.910A>G (p.Met304Val) c.327A>G c.748A>G c.1044A>G c.814A>G (p.Met272Val) n.520A>G n.381A>G c.618A>G c.515A>G c.814A>G c.1072A>G (p.Met358Val) n.860A>G c.674-1391A>G | ClinVar dbSNP |
| 2 | g.32127017A= | CA1242497430 | SPAST | c.*828A= (n.*828A=) c.1168A= (p.Met390=) c.1165A= (p.Met389=) c.983-9546A= c.1069A= (p.Met357=) c.942A= c.910A= (p.Met304=) c.327A= c.748A= c.1044A= c.814A= (p.Met272=) n.520A= n.381A= c.618A= c.515A= c.814A= c.1072A= (p.Met358=) n.860A= c.674-1391A= | dbSNP |