Table 2.
Summary of variants (mutations) types for all mutations identified in four neuroblastoma tumors.
| Variants Types | COA/UAB-3 | COA/UAB-6 | COA/UAB-8 | COA/UAB-14 | ||||
|---|---|---|---|---|---|---|---|---|
| Not reported | Reported | Not reported | Reported | Not reported | Reported | Not reported | Reported | |
| Nonsynonymous coding1 | 12 | 3 | 6 | 7 | 4 | 1 | 13 | 8 |
| Nonsynonymous start2 | ||||||||
| Splice site acceptor3 | 1 | 1 | 1 | |||||
| Splice site donor3 | ||||||||
| Start gained4 | 2 | 1 | 1 | 1 | ||||
| Start lost4 | 1 | |||||||
| Stop gained5 | 2 | 1 | ||||||
| Stop lost5 | ||||||||
| TOATL # VARIANTS | 16 | 3 | 7 | 8 | 5 | 2 | 16 | 9 |
| TOTAL # GENES | 15 | 3 | 7 | 8 | 4 | 2 | 15 | 9 |
1Mutation of a single nucleotide, resulting in an amino acid change in the encoded protein; may affect phenotype66.
2Mutation that occurs in a coding region, at start site.
3Mutation that changes nucleotides in genomic loci where splicing takes place.
4Mutation that generates a new translation initiation codon in the 5′UTR, or that results in the loss of an initiation codon. Start site loss may result in the loss of protein product.
5Mutation that changes the sequence of a codon to create or remove a stop codon (UAA, UAG, UGA).