| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32126966del | CA16043391 | SPAST | c.*777del (n.*777del) c.1117del (p.Ala373LeufsTer23) c.1114del (p.Ala372LeufsTer23) c.983-9597del c.1018del (p.Ala340LeufsTer23) c.891del c.859del (p.Ala287LeufsTer23) c.276del c.697del c.993del c.763del (p.Ala255LeufsTer23) n.469del n.330del c.567del c.464del c.763del c.1021del (p.Ala341LeufsTer23) n.809del c.674-1442del | ClinVar dbSNP |
| 2 | g.32126966G= | CA1242497403 | SPAST | c.*777G= (n.*777G=) c.1117G= (p.Ala373=) c.1114G= (p.Ala372=) c.983-9597G= c.1018G= (p.Ala340=) c.891G= c.859G= (p.Ala287=) c.276G= c.697G= c.993G= c.763G= (p.Ala255=) n.469G= n.330G= c.567G= c.464G= c.763G= c.1021G= (p.Ala341=) n.809G= c.674-1442G= | dbSNP dbSNP |