| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32136890C>A | CA253570 | SPAST | c.*995C>A (n.*995C>A) c.1335C>A (p.Ser445Arg) c.1332C>A (p.Ser444Arg) c.1072C>A c.1236C>A (p.Ser412Arg) c.1109C>A c.1077C>A (p.Ser359Arg) c.481-219C>A c.915C>A c.1211C>A c.981C>A (p.Ser327Arg) n.2072C>A c.785C>A c.593-219C>A c.981C>A c.1239C>A (p.Ser413Arg) n.1027C>A c.835C>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.32136890C= | CA1242501555 | SPAST | c.*995C= (n.*995C=) c.1335C= (p.Ser445=) c.1332C= (p.Ser444=) c.1072C= c.1236C= (p.Ser412=) c.1109C= c.1077C= (p.Ser359=) c.481-219C= c.915C= c.1211C= c.981C= (p.Ser327=) n.2072C= c.785C= c.593-219C= c.981C= c.1239C= (p.Ser413=) n.1027C= c.835C= | dbSNP |