| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48465238C>T | CA026438 | RB1 | c.2359C>T (p.Arg787Ter) c.194+83795C>T c.2098C>T (p.Arg700Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.48465238C>G | CA388167816 | RB1 | c.2359C>G (p.Arg787Gly) c.194+83795C>G c.2098C>G (p.Arg700Gly) | ClinVar dbSNP |
| 13 | g.48465238C>A | CA483740180 | RB1 | c.2359C>A (p.Arg787=) c.194+83795C>A c.2098C>A (p.Arg700=) | dbSNP |
| 13 | g.48465238C= | CA2090014138 | RB1 | c.2359C= (p.Arg787=) c.194+83795C= c.2098C= (p.Arg700=) | dbSNP |