Table 1.
Summary of NBN variants from targeted next-generation sequencing of 85 prostate cancer cases of European descent
| Chr. Position GRCh37 |
Reference | Variant | dbSNP ID | Substitution | SNP Type | # of Individuals |
MAFa (%) |
ESP[29] MAFa (%) |
|---|---|---|---|---|---|---|---|---|
| 90955548 | G | C | novel | S706* | nonsense | 1 | 1.06 | 0 |
| 90955583 | A | C | rs7823648 | P694P | synonymous | 1 | 1.06 | 0.1 |
| 90958422 | T | C | rs1061302 | P672P | synonymous | 50 | 53.19 | 31.36 |
| 90967711 | A | G | rs709816 | D399D | synonymous | 54 | 57.44 | 35.56 |
| 90990479 | C | G | rs1805794 | E185Q | missense | 46 | 48.94 | 31.41 |
| 90990534 | A | G | novel | I166I | synonymous | 1 | 1.06 | 0 |
| 90993061 | A | G | rs61754795 | A127A | synonymous | 3 | 3.19 | 0.41 |
| 90995019 | C | T | rs1063045 | L34L | synonymous | 54 | 57.44 | 31.5 |
a
MAF=Minor Allele Frequency; ESP MAF are listed for individuals of European descent