| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32064241del | CA16610746 | SPAST | c.410del (p.Glu137GlyfsTer?) c.410del (p.Glu137GlyfsTer24) c.410del (p.Glu137GlyfsTer23) c.294del c.280del c.152del (p.Glu51GlyfsTer24) c.286del c.251del (p.Glu84GlyfsTer3) c.31del c.244del | ClinVar dbSNP |
| 2 | g.32064241A= | CA3085915253 | SPAST | c.410A= (p.Glu137=) c.294A= c.280A= c.152A= (p.Glu51=) c.286A= c.251A= (p.Glu84=) c.31A= c.244A= | dbSNP |