Table 1. Summary of germline RB1 mutations (small-scale mutations) identified in retinoblastoma patients.
| ID | Location | DNA variation | Expected consequence | phenotype | Times found in rb1-lsdb |
|---|---|---|---|---|---|
| RB294# | Ex 18 | g.150037C>T | p.Arg579* | Bi | 94 |
| RB581# | Ex 18 | g.150037C>T | p.Arg579* | Bi | 94 |
| RB630## | Ex 14 | g.76460C>T | p.Arg455* | Bi | 62 |
| RB683## | Ex 14 | g.76460C>T | p.Arg455* | Bi | 62 |
| RB414 | Ex 4 | g.41954G>T | p.Glu137* | Bi | 10 |
| RB488 | Ex 23 | g.162237C>T | p.Arg787* | Bi | 68 |
| RB047 | Ex 22 | g.162021G>T | p.Glu746* | Uni | 4 |
| RB988 | Ex 14 | g.76430C>T | p.Arg445* | Bi | 79 |
| RB654 | Ex 17 | g.78250C>T | p.Arg556* | Bi | 49 |
| RB960 | In 24 | g.170405_170408del | Splice | Bi | 10 |
| RB140 | In 19 | g.156692G>C | Splice | Bi | Novel$ |
| RB231 | In 15 | g.76921G>A | Splice | Bi | 2 |
| RB410$$ | Ex 2 | g.5550G>A | Splice | Familial Bi | 3 |
| RB851 | In 21 | g.160835G>A | Splice | Bi | 1 |
| RB844 | In 9 | g.61808G>A | Splice | Uni | 1 |
| RB453 | In 6 | g.45867G>T | Splice | Uni | 21 |
| RB709 | Ex 1 | g.2151_2152del | p.Glu31Glyfs*17 | Uni | Novel |
| RB037 | Ex 10 | g.64395del | p.Leu335Phefs*14 | Bi | 1 |
| RB339 | Ex 18 | g.150044del | p.Gly581Aspfs*30 | Bi | Novel |
| RB103 | Ex 15 | g.76896del | p.Glu466Aspfs*12 | Bi | Novel |
| RB723 | Ex 1 | g.2142C>G | p.Pro28Arg | Uni | Novel |
| RB380 | Ex 20 | g.156704G>C | p.Ala658Pro | Bi | Novel$ |
| RB150 | Ex 21 | g.160740G>A | p.Cys706Tyr | Bi | 2 |
| RB680 | Promoter | g.1862G>A | - | Bi | 5 |
| RB214### | Promoter | g.1825G>A | - | Uni | Novel |
| RB187### | Promoter | g.1825G>A | - | Uni | Novel |
The numbering of DNA and amino acid sequences refers to the reference sequences of accession number L11910 and NP_000312, respectively. $Point mutation has the identical genomic position reported in the RB1 locus specific database (RB1-lsdb.d-lohmann.de/) but is substituted with a different nucleotide. $$One case with familial RB found in this study. #, ##, ### patients have the identical mutation. Abbreviations: Ex, Exon; In, Intron; Bi, bilateral RB; Uni, Unilateral RB.