| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32136964A>T | CA253564 | SPAST | c.*1069A>T (n.*1069A>T) c.1409A>T (p.Asp470Val) c.1406A>T (p.Asp469Val) c.1146A>T c.1310A>T (p.Asp437Val) c.1183A>T c.1151A>T (p.Asp384Val) c.481-145A>T c.989A>T c.1285A>T c.1055A>T (p.Asp352Val) n.2146A>T c.859A>T c.593-145A>T c.1055A>T c.1313A>T (p.Asp438Val) n.1101A>T c.909A>T | ClinVar dbSNP |
| 2 | g.32136964A>C | CA346502358 | SPAST | c.*1069A>C (n.*1069A>C) c.1409A>C (p.Asp470Ala) c.1406A>C (p.Asp469Ala) c.1146A>C c.1310A>C (p.Asp437Ala) c.1183A>C c.1151A>C (p.Asp384Ala) c.481-145A>C c.989A>C c.1285A>C c.1055A>C (p.Asp352Ala) n.2146A>C c.859A>C c.593-145A>C c.1055A>C c.1313A>C (p.Asp438Ala) n.1101A>C c.909A>C | ClinVar dbSNP |
| 2 | g.32136964A>G | CA346502357 | SPAST | c.*1069A>G (n.*1069A>G) c.1409A>G (p.Asp470Gly) c.1406A>G (p.Asp469Gly) c.1146A>G c.1310A>G (p.Asp437Gly) c.1183A>G c.1151A>G (p.Asp384Gly) c.481-145A>G c.989A>G c.1285A>G c.1055A>G (p.Asp352Gly) n.2146A>G c.859A>G c.593-145A>G c.1055A>G c.1313A>G (p.Asp438Gly) n.1101A>G c.909A>G | dbSNP gnomAD v4 |
| 2 | g.32136964A= | CA1242501779 | SPAST | c.*1069A= (n.*1069A=) c.1409A= (p.Asp470=) c.1406A= (p.Asp469=) c.1146A= c.1310A= (p.Asp437=) c.1183A= c.1151A= (p.Asp384=) c.481-145A= c.989A= c.1285A= c.1055A= (p.Asp352=) n.2146A= c.859A= c.593-145A= c.1055A= c.1313A= (p.Asp438=) n.1101A= c.909A= | dbSNP |