Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32136964A>TCA253564SPASTc.*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
2g.32136964A>CCA346502358SPASTc.*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

Number of alleles fetched