Table 2 Variants not shared between CRCNab3 and CRCNab2
Chr | Gene | NM Number | Func.refgene | Start | AA change | Frequency (exac/1000Â g) | dbsnp | ClinVar | UMD prediction | SIFT_pred |
|---|---|---|---|---|---|---|---|---|---|---|
10 | LRMDA | NM_001305581 | exon 6 | 78084234 | c.592A>G:p.S198G | 0.00005 (ExAC) | rs763696041 | NA | Pathogenic | Tolerated |
2 | MSH2 (other then the confirmed one) | NM_000251 | exon14 | 47705572 | c.2372C>A:p.A791D | NA | NA | NA | Pathogenic | Tolerated |
3 | RASA2 | NM_006506 | exon 1 | 141206014 | c.89A>T:p.D30V | NA | NA | NA | Pathogenic | Deleterious |
8 | RECQL4 | NM_004260 | exon 13 | 145739035 | c.2120G>T:p.C707F | NA | NA | NA | NA | NA |
16 | FANCA; ZNF276 | NM_000135 | exon 43; UTR3 | 89805058 | c.4319delA:p.Q1440fs | NA | NA | NA | NA | NA |
9 | FANCG | NM_004629 | exon 14 | 35074189 | c.1785C>A:p.S595R | NA | NA | NA | Polymorphism | Deleterious |
14 | SOS2 | NM_006939 | exon 18 | 50605450 | c.2838A>T:p.L946F | 0.000199681 (1000Â g) | rs532833599 | NA | Pathogenic | Deleterious |
13 | BRCA2 | NM_000059 | exon 17 | 32936664 | c.7810C>A:p.L2604M | NA | NA | NA | Probably pathogenic | Deleterious |
19 | ERCC2 | NM_000400 | Splicing; intronic | 45871885 | exon5:c.360+3G>T | NA | NA | NA | NA | NA |
16 | ERCC4 | NM_005236 | exon 11 | 14041875 | c.2422G>T:p.A808S | NA | NA | NA | Pathogenic | Tolerated |
13 | ERCC5 | NM_000123 | exon 1 | 103498624 | c.8T>G:p.V3G | NA | NA | NA | Pathogenic | Deleterious |
16 | SLX4 | NM_032444 | exon 3 | 3656493 | c.742G>T:p.E248X | NA | NA | NA | Pathogenic | NA |
22 | NF2 | NM_000268 | exon 5; intronic | 30050687 | c.489G>T:p.L163F | NA | NA | NA | Pathogenic | Deleterious |
17 | NF1 | NM_001042492 | exon 25 | 29559152 | c.3259C>T:p.P1087S | NA | NA | NA | Pathogenic | Deleterious |
exon 43 | 29664581 | c.6623C>A:p.A2208D | NA | NA | NA | Pathogenic | Deleterious |