From: Characterization of familial breast cancer in Saudi Arabia
Gene | dbSNP137 | Genomic Position | AA Change | Nucleotide change | SIFT Prediction | MAF | Occurrence |
---|---|---|---|---|---|---|---|
BRCA1 | rs799917 | Chr17:41244936 | p.Pro871Leu | c.2894G>A | Tolerated | 0.483 | 4/7 |
 | rs4986852 | Chr17:41244429 | p.Ser1040Asn | c.3351 G>A | Tolerated | 0.012 | 1/7 |
 | rs1799966 | Chr17:41223094 | p.Ser1613Gly | c.5096A>G | Damaging | 0.327 | 3/7 |
 | rs16941 | Chr17:41244435 | p.Glu1038Gly | c.3345A>G | Damaging | 0.303 | 3/7 |
 | rs1799950 | Chr17:41246481 | p.Gln356Arg | c.1299A>G | Damaging | 0.028 | 1/7 |
 | rs16942 | Chr17:41244000 | p.Lys1183Arg | c.3780A>G | Tolerated | 0.324 | 2/7 |
BRCA2 | rs144848 | Chr13:32906729 | p.Asn372His | c.1341A>C | Tolerated | 0.240 | 4/7 |
 | rs766173 | Chr13:32906480 | p.Asn289His | c.1092A>C | Damaging | 0.058 | 1/7 |
 | rs169547 | Chr13:32929387 | p.Val2466Ala | c.7397C>T | Tolerated | 0.022 | 5/7 |
 | rs80358972 | Chr13:32930609 | p.Arg2494Stop | c.7707C>T | NA | NA | 1/7 |
 | rs4987117 | Chr13:32914236 | p.Thr1915Met | c.5971C>T | Tolerated | 0.011 | 1/7 |
 | Novel | Chr13:32906700 | p.Thr363fs | c.1084_1085insAC | NA | NA | 1/7 |