From: An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
Gene | Chr 19 position | Mutation type | Functional prediction—polyphen | cDNA change | Protein change | TCGA EA colon MAF (%) | EVS EA MAF (%) | EA individual P-values |
---|---|---|---|---|---|---|---|---|
CEACAM1: NM_001184815 | 42527262 | missense | probably-damaging: 1.0 | c.203A > G | p.(Y68C) | 0.503 | 0.070 | 0.046 |
CEACAM4: NM_001817 | 41625657 | missense | benign: 0.325 | c.368G > A | p.(R123E) | 0.503 | 0.000 | 0.002 |
CEACAM8: NM_001816 | 42589735 | missense | benign: 0.005 | c.425C > T | p.(P142L) | 0.503 | 0.012 | 0.006 |
CEACAM18: NM_001080405 | 51483229 | missense | probably-damaging: 1.0 | c.1069T > G | p.(C357G) | 0.503 | 0.059 | 0.036 |
51483284 | missense | benign: 0.013 | c.1124A > G | p.(Q375R) | 0.503 | 0.059 | 0.036 | |
CEACAM19: NM_020219 | 44681293 | missense | benign: 0.01 | c.773G > C | p.(R258T) | 1.005 | 0.093 | 0.001 |
CEACAM20: NM_001102597 | 44512936 | missense | benign: 0.062 | c.1445C > T | p.(T482I) | 0.503 | 0.000 | 0.002 |