| 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 |
| 2 | g.32126960C= | CA1242497397 | SPAST | c.*771C= (n.*771C=) c.1111C= (p.Leu371=) c.1108C= (p.Leu370=) c.983-9603C= c.1012C= (p.Leu338=) c.885C= c.853C= (p.Leu285=) c.270C= c.691C= c.987C= c.757C= (p.Leu253=) n.463C= n.324C= c.561C= c.458C= c.757C= c.1015C= (p.Leu339=) n.803C= c.674-1448C= | dbSNP |
| 2 | g.32126960C>A | CA346501217 | SPAST | c.*771C>A (n.*771C>A) c.1111C>A (p.Leu371Ile) c.1108C>A (p.Leu370Ile) c.983-9603C>A c.1012C>A (p.Leu338Ile) c.885C>A c.853C>A (p.Leu285Ile) c.270C>A c.691C>A c.987C>A c.757C>A (p.Leu253Ile) n.463C>A n.324C>A c.561C>A c.458C>A c.757C>A c.1015C>A (p.Leu339Ile) n.803C>A c.674-1448C>A | dbSNP gnomAD v4 |