Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32137172G>CCA16616713SPASTc.*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
2g.32137172G>TCA16616712SPASTc.*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
2g.32137172G=CA1242502194SPASTc.*1137G= (n.*1137G=)
c.1477G= (p.Asp493=)
c.1474G= (p.Asp492=)
c.1214G=
c.1378G= (p.Asp460=)
c.1251G=
c.1219G= (p.Asp407=)
c.544G=
c.1057G=
c.1353G=
c.1123G= (p.Asp375=)
n.2214G=
c.927G=
c.656G=
c.1123G=
c.1381G= (p.Asp461=)
n.1169G=
c.977G=
 dbSNP dbSNP

Number of alleles fetched