| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32127006A>G | CA253562 | SPAST | c.*817A>G (n.*817A>G) c.1157A>G (p.Asn386Ser) c.1154A>G (p.Asn385Ser) c.983-9557A>G c.1058A>G (p.Asn353Ser) c.931A>G c.899A>G (p.Asn300Ser) c.316A>G c.737A>G c.1033A>G c.803A>G (p.Asn268Ser) n.509A>G n.370A>G c.607A>G c.504A>G c.803A>G c.1061A>G (p.Asn354Ser) n.849A>G c.674-1402A>G | ClinVar dbSNP |
| 2 | g.32127006A= | CA1242497422 | SPAST | c.*817A= (n.*817A=) c.1157A= (p.Asn386=) c.1154A= (p.Asn385=) c.983-9557A= c.1058A= (p.Asn353=) c.931A= c.899A= (p.Asn300=) c.316A= c.737A= c.1033A= c.803A= (p.Asn268=) n.509A= n.370A= c.607A= c.504A= c.803A= c.1061A= (p.Asn354=) n.849A= c.674-1402A= | dbSNP |