From: Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls
Exon | Nucleotide changea | Protein changea | dbSNP ID | First reported | 1000 G MAFb | NHBLI GO ESP MAFc | ExACd | HAPS cases (n = 997)e | FCC-ViP cases (n = 999)d | Controls (n = 1998)e | CADD scaled C score |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | c.12 T > C | p.(=) | rs145291423 | - | . | . | 0.00012 | - | 1 | 1 | 11.2 |
4 | c.768C > T | p.(=) | rs45487491 |  | . | . | 0.000037 |  | 1 |  | 0.3 |
4 | c.1188C > T | p.(=) | . | - | . | . | 0.00003 | - | - | 1 | 7.6 |
4 | c.1194G > A | p.(=) | rs61755173 | Rahman (2007) [3] | 0.0009 | 0.00154 | 0.00114 | 3 | 2 | 8 | 6.4 |
4 | c.1194G > T | p.(=) | . | - | . | . | . | 1 | - | - | 6.1 |
4 | c.1242A > C | p.(=) | . | - | . | . | . | - | - | 1 | 7.7 |
4 | c.1431C > T | p.(=) | . | Teo (2013) | . | . | 0 | 2 | - | - | 0.0 |
4 | c.1470C > T | p.(=) | rs45612837 | Rahman (2007) [3] | 0.0005 | 0.00015 | 0.000405 | 1 | - | 2 | 5.8 |
4 | c.1572A > G | p.(=) | rs45472400 | Rahman (2007) [3] | 0.0032 | 0.00339 | 0.0041 | 12 | 12 | 27 | 5.6 |
4 | c.1623G > A | p.(=) | . | - | . | . | 0 | - | 1 | 2 | 4.2 |
5 | c.2067G > A | p.(=) | . | Phuah (2013) [38] | . | 0.00015 | 0.000018 | 1 | - | - | 4.1 |
5 | c.2082A > G | p.(=) | rs150569240 | - | . | . | 0.000055 | - | - | 1 | 5.8 |
5 | c.2091C > A | p.(=) | . | - | . | . | 0 | - | - | 1 | 4.7 |
5 | c.2244A > G | p.(=) | . | - | . | . | 0.000037 | - | - | 1 | 5.6 |
5 | c.2328C > T | p.(=) | rs45508997 | - | . | 0.00008 | 0 | 1 | - | - | 4.0 |
5 | c.2337A > C | p.(=) | . | - | . | . | . | - | 1 | - | 5.2 |
5 | c.2379C > T | p.(=) | . | - | . | 0.00008 | 0.000111 | 1 | 1 | - | 0.1 |
5 | c.2478C > T | p.(=) | . | - | . | . | . | - | - | 1 | 4.2 |
5 | c.2484C > T | p.(=) | . | - | . | . | . | - | - | 1 | 6.0 |
7 | c.2742C > T | p.(=) | rs115759702 | - | 0.0018 | 0.00146 | 0.00003 | 2 | - | - | 0.7 |
12 | c.3294G > A | p.(=) | . | - | . | . | . | - | - | 1 | 9.9 |
12 | c.3300 T > G | p.(=) | rs45516100 | Rahman (2007) [3] | 0.0183 | 0.02801 | 0.0278 | 64 (1) | 68 (4) | 123 (1) | 7.9 |
13 | c.3495G > A | p.(=) | rs45439097 | Bogdanova (2010) | . | 0.00108 | 0.000994 | 4 | 7 | 9 | 8.6 |