Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.48459750G>T | CA249308167 | RB1 | c.2023G>T (p.Glu675Ter) c.194+78307G>T c.1762G>T (p.Glu588Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48459750G>C | CA388166784 | RB1 | c.2023G>C (p.Glu675Gln) c.194+78307G>C c.1762G>C (p.Glu588Gln) | dbSNP |
13 | g.48459750G>A | CA388166783 | RB1 | c.2023G>A (p.Glu675Lys) c.194+78307G>A c.1762G>A (p.Glu588Lys) | dbSNP COSMIC COSMIC |