Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.21010033G>TCA346000560APOBc.6835C>A (p.Gln2279Lys)
c.5869+700C>A (n.5869+700C>A)
dbSNP gnomAD v2 gnomAD v4
2g.21010033G>ACA022898APOBc.6835C>T (p.Gln2279Ter)
c.5869+700C>T (n.5869+700C>T)
ClinVar dbSNP gnomAD v4
2g.21010033G>CCA346000558APOBc.6835C>G (p.Gln2279Glu)
c.5869+700C>G (n.5869+700C>G)
dbSNP
2g.21010033G=CA2493476522APOBc.6835C= (p.Gln2279=)
c.5869+700C= (n.5869+700C=)
dbSNP

Number of alleles fetched