| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32141917C>T | CA348315 | SPAST | c.*1167C>T (n.*1167C>T) c.1507C>T (p.Arg503Trp) c.1504C>T (p.Arg502Trp) c.1244C>T c.1408C>T (p.Arg470Trp) c.1281C>T c.1249C>T (p.Arg417Trp) c.574C>T c.1087C>T c.1383C>T c.1153C>T (p.Arg385Trp) n.2244C>T c.957C>T c.686C>T c.1153C>T c.1411C>T (p.Arg471Trp) n.1199C>T c.1007C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32141917C= | CA1242504519 | SPAST | c.*1167C= (n.*1167C=) c.1507C= (p.Arg503=) c.1504C= (p.Arg502=) c.1244C= c.1408C= (p.Arg470=) c.1281C= c.1249C= (p.Arg417=) c.574C= c.1087C= c.1383C= c.1153C= (p.Arg385=) n.2244C= c.957C= c.686C= c.1153C= c.1411C= (p.Arg471=) n.1199C= c.1007C= | dbSNP |