Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.48381402C>A | CA483559624 | RB1 | c.1654C>A (p.Arg552=) c.153C>A c.1393C>A (p.Arg465=) | dbSNP |
13 | g.48381402C>T | CA026383 | RB1 | c.1654C>T (p.Arg552Ter) c.153C>T c.1393C>T (p.Arg465Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.48381402C>G | CA388163937 | RB1 | c.1654C>G (p.Arg552Gly) c.153C>G c.1393C>G (p.Arg465Gly) | dbSNP |