| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48465369G>A | CA035748 | RB1 | c.2489+1G>A (n.2489+1G>A) c.194+83926G>A c.2228+1G>A (n.2228+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.48465369G>C | CA10605763 | RB1 | c.2489+1G>C (n.2489+1G>C) c.194+83926G>C c.2228+1G>C (n.2228+1G>C) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48465369G= | CA2090014436 | RB1 | c.2489+1G= (n.2489+1G=) c.194+83926G= c.2228+1G= (n.2228+1G=) | dbSNP |
| 13 | g.48465369G>T | CA388168093 | RB1 | c.2489+1G>T (n.2489+1G>T) c.194+83926G>T c.2228+1G>T (n.2228+1G>T) | ClinVar dbSNP COSMIC COSMIC |