| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32145004C>T | CA346504288 | SPAST | c.*1344C>T (n.*1344C>T) c.1684C>T (p.Arg562Ter) c.1681C>T (p.Arg561Ter) c.1421C>T c.1585C>T (p.Arg529Ter) c.1390+1589C>T c.1426C>T (p.Arg476Ter) c.1264C>T c.1560C>T c.1330C>T (p.Arg444Ter) n.2421C>T c.1066+1589C>T c.863C>T c.1330C>T c.1588C>T (p.Arg530Ter) n.1376C>T c.1184C>T c.1616+1589C>T (n.1616+1589C>T) c.1520+1589C>T (n.1520+1589C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.32145004C>G | CA253566 | SPAST | c.*1344C>G (n.*1344C>G) c.1684C>G (p.Arg562Gly) c.1681C>G (p.Arg561Gly) c.1421C>G c.1585C>G (p.Arg529Gly) c.1390+1589C>G c.1426C>G (p.Arg476Gly) c.1264C>G c.1560C>G c.1330C>G (p.Arg444Gly) n.2421C>G c.1066+1589C>G c.863C>G c.1330C>G c.1588C>G (p.Arg530Gly) n.1376C>G c.1184C>G c.1616+1589C>G (n.1616+1589C>G) c.1520+1589C>G (n.1520+1589C>G) | ClinVar dbSNP |
| 2 | g.32145004C= | CA1242505910 | SPAST | c.*1344C= (n.*1344C=) c.1684C= (p.Arg562=) c.1681C= (p.Arg561=) c.1421C= c.1585C= (p.Arg529=) c.1390+1589C= c.1426C= (p.Arg476=) c.1264C= c.1560C= c.1330C= (p.Arg444=) n.2421C= c.1066+1589C= c.863C= c.1330C= c.1588C= (p.Arg530=) n.1376C= c.1184C= c.1616+1589C= (n.1616+1589C=) c.1520+1589C= (n.1520+1589C=) | dbSNP |