Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.48459756G>CCA388166798RB1c.2029G>C (p.Glu677Gln)
c.194+78313G>C
c.1768G>C (p.Glu590Gln)
dbSNP
13g.48459756G>ACA388166797RB1c.2029G>A (p.Glu677Lys)
c.194+78313G>A
c.1768G>A (p.Glu590Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48459756G>TCA16614022RB1c.2029G>T (p.Glu677Ter)
c.194+78313G>T
c.1768G>T (p.Glu590Ter)
ClinVar dbSNP COSMIC

Number of alleles fetched