| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48367512C>G | CA040068 | RB1 | c.958C>G (p.Arg320Gly) c.697C>G (p.Arg233Gly) n.122-2536G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48367512C>T | CA026470 | RB1 | c.958C>T (p.Arg320Ter) c.697C>T (p.Arg233Ter) n.122-2536G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.48367512C>A | CA483558135 | RB1 | c.958C>A (p.Arg320=) c.697C>A (p.Arg233=) n.122-2536G>T | dbSNP |