| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32127014A>G | CA334274 | SPAST | c.*825A>G (n.*825A>G) c.1165A>G (p.Thr389Ala) c.1162A>G (p.Thr388Ala) c.983-9549A>G c.1066A>G (p.Thr356Ala) c.939A>G c.907A>G (p.Thr303Ala) c.324A>G c.745A>G c.1041A>G c.811A>G (p.Thr271Ala) n.517A>G n.378A>G c.615A>G c.512A>G c.811A>G c.1069A>G (p.Thr357Ala) n.857A>G c.674-1394A>G | ClinVar dbSNP |
| 2 | g.32127014A= | CA1242497428 | SPAST | c.*825A= (n.*825A=) c.1165A= (p.Thr389=) c.1162A= (p.Thr388=) c.983-9549A= c.1066A= (p.Thr356=) c.939A= c.907A= (p.Thr303=) c.324A= c.745A= c.1041A= c.811A= (p.Thr271=) n.517A= n.378A= c.615A= c.512A= c.811A= c.1069A= (p.Thr357=) n.857A= c.674-1394A= | dbSNP |