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Table 3 Observed BRCA 2 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?
478 C > T   Q84X 0.003 1.000 Yes
1342 A > C rs6004238 N372H 0.318 0.000 No
3642 A > G rs1801406 K1132K 0.131 0.033 No
4035 T > C rs543304 V1269V 0.117 0.038 No
4075 del GT    0.003 1.000 Yes
4856 del A    0.003 1.000 Yes
5638 del GT    0.003 1.000 Yes
5803 del ATTA    0.003 1.000 Yes
6174 del T    0.003 1.000 Yes
6503 del TT    0.006 1.000 Yes
7405 ins A    0.003 1.000 Yes
7470 A > G rs1799955 S2414S 0.103 0.050 No
9097 C > T   Q2957X 0.003 1.000 Yes
9132 del C    0.003 1.000 Yes
9504 T > G   T3092X 0.003 1.000 Yes
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