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Table 2 Observed BRCA1 variants in breast cancer cases diagnosed before age 40 in the ABCFS.

From: Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age

Variant rs number Codon MAF HWE Deleterious mutation?
188 del 11   C24X 0.001 1.000 Yes
189 del 11    0.003 1.000 Yes
546 G > T   E143X 0.001 1.000 Yes
1186 A > G rs1799950 Q356R 0.056 0.557 No
1876 del C    0.001 1.000 Yes
2196 G > A rs4986850 D693N 0.060 0.461 No
2201 C > T rs1799949 S694S 0.227 0.000 No
2430 T > C rs16940 L771L 0.218 0.000 No
2594 del C    0.001 1.000 Yes
2731 C > T rs799917 P871L 0.231 0.000 No
2800 del AAG    0.001 1.000 Yes
3232 A > G rs16941 E1038G 0.195 0.000 No
3415 del C    0.001 1.000 Yes
3667 A > G rs16942 K1183R 0.231 0.000 No
3875 del GTCT    0.001 1.000 Yes
3888 del GAG    0.001 1.000 Yes
4184 del TCAA    0.003 1.000 Yes
4427 T > C rs1060915 S1436S 0.231 0.000 No
4446 C > T rs41293455 R1443X 0.001 1.000 Yes
4808 C > G   Y1563X 0.001 1.000 Yes
4956 A > G rs1799966 S1613G 0.237 0.000 No
5382 ins C    0.003 1.000 Yes
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