Table 2. Genetic aberrations in TP53 and RB1.
| Case | Gene name | Chr | Pos GRCh37 | COSMIC ID | Reference | Variant | Variant type | Transcript ID | Codon change | Amino acid change | SNP effect |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | RB1 | Chr13 | 49050852 | – | C | T | SNP | NM_000321.2 | c.2536C>T | p.Q846* | STOP_GAINED |
| TP53 | Chr17 | 7578442 | COSM3388214 | T | C | SNP | NM_000546.5 | c.488A>G | p.Y163C | NON_SYNONYMOUS_CODING | |
| 2 | RB1 | Chr13 | 48881353 | – | T | <DEL> | CNV | NM_000321.2 | – | – | SPLICE_SITE_DONOR |
| TP53 | Chr17 | 7572959 | – | TG | T | DEL | NM_000546.5 | – | p.-383 | FRAME_SHIFT | |
| 3 | TP53 | Chr17 | 7577153 | COSM216411 | C | A | SNP | NM_000546.5 | c.785G>T | p.G262V | NON_SYNONYMOUS_CODING |
Chr, chromosome; CNV, copy number variation; SNP, single-nucleotide polymorphism.