| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32145005G>A | CA278930 | SPAST | c.*1345G>A (n.*1345G>A) c.1685G>A (p.Arg562Gln) c.1682G>A (p.Arg561Gln) c.1422G>A c.1586G>A (p.Arg529Gln) c.1390+1590G>A c.1427G>A (p.Arg476Gln) c.1265G>A c.1561G>A c.1331G>A (p.Arg444Gln) n.2422G>A c.1066+1590G>A c.864G>A c.1331G>A c.1589G>A (p.Arg530Gln) n.1377G>A c.1185G>A c.1616+1590G>A (n.1616+1590G>A) c.1520+1590G>A (n.1520+1590G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.32145005G= | CA1242505911 | SPAST | c.*1345G= (n.*1345G=) c.1685G= (p.Arg562=) c.1682G= (p.Arg561=) c.1422G= c.1586G= (p.Arg529=) c.1390+1590G= c.1427G= (p.Arg476=) c.1265G= c.1561G= c.1331G= (p.Arg444=) n.2422G= c.1066+1590G= c.864G= c.1331G= c.1589G= (p.Arg530=) n.1377G= c.1185G= c.1616+1590G= (n.1616+1590G=) c.1520+1590G= (n.1520+1590G=) | dbSNP |