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 |