Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.48459756G>C | CA388166798 | RB1 | c.2029G>C (p.Glu677Gln) c.194+78313G>C c.1768G>C (p.Glu590Gln) | dbSNP |
13 | g.48459756G>A | CA388166797 | RB1 | c.2029G>A (p.Glu677Lys) c.194+78313G>A c.1768G>A (p.Glu590Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48459756G>T | CA16614022 | RB1 | c.2029G>T (p.Glu677Ter) c.194+78313G>T c.1768G>T (p.Glu590Ter) | ClinVar dbSNP COSMIC |