| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32144945A>G | CA277520 | SPAST | c.*1285A>G (n.*1285A>G) c.1625A>G (p.Asp542Gly) c.1622A>G (p.Asp541Gly) c.1362A>G c.1526A>G (p.Asp509Gly) c.1390+1530A>G c.1367A>G (p.Asp456Gly) c.1205A>G c.1501A>G c.1271A>G (p.Asp424Gly) n.2362A>G c.1066+1530A>G c.804A>G c.1271A>G c.1529A>G (p.Asp510Gly) n.1317A>G c.1125A>G c.1616+1530A>G (n.1616+1530A>G) c.1520+1530A>G (n.1520+1530A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32144945A= | CA1242505882 | SPAST | c.*1285A= (n.*1285A=) c.1625A= (p.Asp542=) c.1622A= (p.Asp541=) c.1362A= c.1526A= (p.Asp509=) c.1390+1530A= c.1367A= (p.Asp456=) c.1205A= c.1501A= c.1271A= (p.Asp424=) n.2362A= c.1066+1530A= c.804A= c.1271A= c.1529A= (p.Asp510=) n.1317A= c.1125A= c.1616+1530A= (n.1616+1530A=) c.1520+1530A= (n.1520+1530A=) | dbSNP |
| 2 | g.32144945A>T | CA346504170 | SPAST | c.*1285A>T (n.*1285A>T) c.1625A>T (p.Asp542Val) c.1622A>T (p.Asp541Val) c.1362A>T c.1526A>T (p.Asp509Val) c.1390+1530A>T c.1367A>T (p.Asp456Val) c.1205A>T c.1501A>T c.1271A>T (p.Asp424Val) n.2362A>T c.1066+1530A>T c.804A>T c.1271A>T c.1529A>T (p.Asp510Val) n.1317A>T c.1125A>T c.1616+1530A>T (n.1616+1530A>T) c.1520+1530A>T (n.1520+1530A>T) | dbSNP gnomAD v4 |