Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.32137172G>C | CA16616713 | SPAST | c.*1137G>C (n.*1137G>C) c.1477G>C (p.Asp493His) c.1474G>C (p.Asp492His) c.1214G>C c.1378G>C (p.Asp460His) c.1251G>C c.1219G>C (p.Asp407His) c.544G>C c.1057G>C c.1353G>C c.1123G>C (p.Asp375His) n.2214G>C c.927G>C c.656G>C c.1123G>C c.1381G>C (p.Asp461His) n.1169G>C c.977G>C | ClinVar dbSNP |
2 | g.32137172G>T | CA16616712 | SPAST | c.*1137G>T (n.*1137G>T) c.1477G>T (p.Asp493Tyr) c.1474G>T (p.Asp492Tyr) c.1214G>T c.1378G>T (p.Asp460Tyr) c.1251G>T c.1219G>T (p.Asp407Tyr) c.544G>T c.1057G>T c.1353G>T c.1123G>T (p.Asp375Tyr) n.2214G>T c.927G>T c.656G>T c.1123G>T c.1381G>T (p.Asp461Tyr) n.1169G>T c.977G>T | ClinVar dbSNP |