| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32115756del | CA335970 | SPAST | c.*585del (n.*585del) c.925del (p.Arg309ValfsTer6) c.922del (p.Arg308ValfsTer6) c.809del c.826del (p.Arg276ValfsTer6) c.699del c.667del (p.Arg223ValfsTer6) c.84del c.505del c.801del c.571del (p.Arg191ValfsTer6) c.375del c.272del c.571del c.829del (p.Arg277ValfsTer6) n.617del c.500del | ClinVar dbSNP |
| 2 | g.32115756C= | CA1242491896 | SPAST | c.*585C= (n.*585C=) c.925C= (p.Arg309=) c.922C= (p.Arg308=) c.809C= c.826C= (p.Arg276=) c.699C= c.667C= (p.Arg223=) c.84C= c.505C= c.801C= c.571C= (p.Arg191=) c.375C= c.272C= c.571C= c.829C= (p.Arg277=) n.617C= c.500C= | dbSNP dbSNP |