| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32126960C>G | CA346501218 | SPAST | c.*771C>G (n.*771C>G) c.1111C>G (p.Leu371Val) c.1108C>G (p.Leu370Val) c.983-9603C>G c.1012C>G (p.Leu338Val) c.885C>G c.853C>G (p.Leu285Val) c.270C>G c.691C>G c.987C>G c.757C>G (p.Leu253Val) n.463C>G n.324C>G c.561C>G c.458C>G c.757C>G c.1015C>G (p.Leu339Val) n.803C>G c.674-1448C>G | ClinVar dbSNP |
| 2 | g.32126960C>T | CA16609412 | SPAST | c.*771C>T (n.*771C>T) c.1111C>T (p.Leu371Phe) c.1108C>T (p.Leu370Phe) c.983-9603C>T c.1012C>T (p.Leu338Phe) c.885C>T c.853C>T (p.Leu285Phe) c.270C>T c.691C>T c.987C>T c.757C>T (p.Leu253Phe) n.463C>T n.324C>T c.561C>T c.458C>T c.757C>T c.1015C>T (p.Leu339Phe) n.803C>T c.674-1448C>T | ClinVar dbSNP |