| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32136898G>A | CA253548 | SPAST | c.*1003G>A (n.*1003G>A) c.1343G>A (p.Cys448Tyr) c.1340G>A (p.Cys447Tyr) c.1080G>A c.1244G>A (p.Cys415Tyr) c.1117G>A c.1085G>A (p.Cys362Tyr) c.481-211G>A c.923G>A c.1219G>A c.989G>A (p.Cys330Tyr) n.2080G>A c.793G>A c.593-211G>A c.989G>A c.1247G>A (p.Cys416Tyr) n.1035G>A c.843G>A | ClinVar dbSNP |
| 2 | g.32136898G= | CA1242501571 | SPAST | c.*1003G= (n.*1003G=) c.1343G= (p.Cys448=) c.1340G= (p.Cys447=) c.1080G= c.1244G= (p.Cys415=) c.1117G= c.1085G= (p.Cys362=) c.481-211G= c.923G= c.1219G= c.989G= (p.Cys330=) n.2080G= c.793G= c.593-211G= c.989G= c.1247G= (p.Cys416=) n.1035G= c.843G= | dbSNP |