Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197093108T>ACA342291ASPMn.2525A>T
c.9238A>T (p.Lys3080Ter)
c.9460A>T (p.Lys3154Ter)
c.4483A>T (p.Lys1495Ter)
c.2233A>T (p.Lys745Ter)
c.3196A>T (p.Lys1066Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197093108T>CCA344006869ASPMn.2525A>G
c.9238A>G (p.Lys3080Glu)
c.9460A>G (p.Lys3154Glu)
c.4483A>G (p.Lys1495Glu)
c.2233A>G (p.Lys745Glu)
c.3196A>G (p.Lys1066Glu)
dbSNP

Number of alleles fetched