Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219567787G>ACA251674OBSL1c.1465C>T (p.Arg489Ter)
c.226C>T (p.Arg76Ter)
n.972C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219567787G>CCA350758928OBSL1c.1465C>G (p.Arg489Gly)
c.226C>G (p.Arg76Gly)
n.972C>G
dbSNP gnomAD v2 gnomAD v4
2g.219567787G>TCA66037476OBSL1c.1465C>A (p.Arg489=)
c.226C>A (p.Arg76=)
n.972C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched