| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32144990C>G | CA16043392 | SPAST | c.*1330C>G (n.*1330C>G) c.1670C>G (p.Ala557Gly) c.1667C>G (p.Ala556Gly) c.1407C>G c.1571C>G (p.Ala524Gly) c.1390+1575C>G c.1412C>G (p.Ala471Gly) c.1250C>G c.1546C>G c.1316C>G (p.Ala439Gly) n.2407C>G c.1066+1575C>G c.849C>G c.1316C>G c.1574C>G (p.Ala525Gly) n.1362C>G c.1170C>G c.1616+1575C>G (n.1616+1575C>G) c.1520+1575C>G (n.1520+1575C>G) | ClinVar dbSNP |
| 2 | g.32144990C>T | CA346504267 | SPAST | c.*1330C>T (n.*1330C>T) c.1670C>T (p.Ala557Val) c.1667C>T (p.Ala556Val) c.1407C>T c.1571C>T (p.Ala524Val) c.1390+1575C>T c.1412C>T (p.Ala471Val) c.1250C>T c.1546C>T c.1316C>T (p.Ala439Val) n.2407C>T c.1066+1575C>T c.849C>T c.1316C>T c.1574C>T (p.Ala525Val) n.1362C>T c.1170C>T c.1616+1575C>T (n.1616+1575C>T) c.1520+1575C>T (n.1520+1575C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.32144990C= | CA1242505902 | SPAST | c.*1330C= (n.*1330C=) c.1670C= (p.Ala557=) c.1667C= (p.Ala556=) c.1407C= c.1571C= (p.Ala524=) c.1390+1575C= c.1412C= (p.Ala471=) c.1250C= c.1546C= c.1316C= (p.Ala439=) n.2407C= c.1066+1575C= c.849C= c.1316C= c.1574C= (p.Ala525=) n.1362C= c.1170C= c.1616+1575C= (n.1616+1575C=) c.1520+1575C= (n.1520+1575C=) | dbSNP |