Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197133380G>ACA340334ASPMc.2389C>T (p.Arg797Ter)
n.445C>T
n.2389C>T (p.Arg797Ter)
c.139C>T (p.Arg47Ter)
c.561+10311C>T (n.561+10311C>T)
ClinVar dbSNP ExAC gnomAD
1g.197133380G>CCA1310482ASPMc.2389C>G (p.Arg797Gly)
n.445C>G
n.2389C>G (p.Arg797Gly)
c.139C>G (p.Arg47Gly)
c.561+10311C>G (n.561+10311C>G)
dbSNP ExAC gnomAD

Number of alleles fetched