Table 2 Variants found in the eight candidate genes in the replication cohort.
From: Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Gene | Variant description | Age at diagnosis |
|---|---|---|
CHAD | NM_001267:c.735C > A:p.(Y245X) | 37 (patient I-0540-00) & 41 (patient I-2323-03) |
CHD1L | NM_004284:c.607G > A:p.(G203R) | 50 |
CHD1L | NM_004284:c.2273G > A:p.(R758Q) | 50 |
CHD1L | NM_004284:c.2320G > A:p.(D774N) | 39 |
CHD1L | NM_004284:c.263 T > G:p.(L88W) | 45 |
PTPN13 | NM_080685:c.1916G > A:p.(G639E) | 49 |
PTPN13 | NM_080685:c.2015A > G:p.(H672R) | 50 |
PTPN13 | NM_080685:c.5837G > A:p.(G1946E) | 34 |
SPATA20 | NM_022827:c.1177G > A:p.(G393R) | 46 |
SPATA20 | NM_022827:c.1426C > T:p.(R476W) | 38 |
TDG | NM_003211:c.C67T:p.(Q23X) | 49 |
TDG | NM_003211:c.T1175G:p.(I392S) | 43 |
TGS1 | NM_024831:c.107G > A:p.(R36Q) | 42 |
