Table 1 Variants in coding regions of the genes included in the Comprehensive Hereditary Cancer carried by all siblings
From: Unravelling genetic variants of a swedish family with high risk of prostate cancer
Gene | Locationa | Ref/Alt | SNP-id | HGVS transcript | Clinical significance |
|---|---|---|---|---|---|
MLH1 | chr3:37053568 | A/G | rs1799977 | NM_001167617.2:c.361 A > G | benign |
EZH2 | chr7:148525904 | C/G | rs2302427 | NM_001203248.1:c.526G > C | benign |
BRCA2 | chr13:32906729 | A/C | rs144848 | NM_000059.3:c.1114 A > C | benign |
ERCC2 | chr19:45854919 | T/G | rs13181 | NM_000400.3:c.2251 A > C | benign |