Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197125190G>TCA1310289ASPMn.890C>A
c.2938C>A (p.Arg980=)
n.994C>A
c.688C>A (p.Arg230=)
c.561+18501C>A (n.561+18501C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197125190G>ACA342231ASPMn.890C>T
c.2938C>T (p.Arg980Ter)
n.994C>T
c.688C>T (p.Arg230Ter)
c.561+18501C>T (n.561+18501C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched