ClinVar Miner

Variants with conflicting interpretations studied for Breast and/or ovarian cancer

Coded as:
Minimum review status of the submission for Breast and/or ovarian cancer: Collection method of the submission for Breast and/or ovarian cancer:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
263 694 4 705 515 2 55 1108

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Breast and/or ovarian cancer pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 4 33 16 1 1 0 1
likely pathogenic 54 0 17 1 1 1 0
uncertain significance 8 16 0 304 133 0 0
likely benign 2 1 178 0 459 0 0
benign 0 0 27 172 0 0 0

Condition to condition summary #

Total conditions: 50
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
not provided 0 825 1 530 354 1 46 847
not specified 0 509 0 484 316 0 14 737
Hereditary nonpolyposis colorectal neoplasms 0 186 0 80 110 0 2 192
BRCA2-related disorder 0 89 0 11 26 0 1 37
Breast and/or ovarian cancer 1968 63 0 13 18 0 3 34
Hereditary cancer 0 17 0 0 22 0 0 22
Inherited breast cancer and ovarian cancer 0 78 0 15 3 0 2 20
BRCA1-related disorder 0 43 0 4 9 0 1 14
ATM-related disorder 0 59 0 3 7 0 0 10
Colorectal cancer, non-polyposis 0 2 0 0 10 0 0 10
Inherited ovarian cancer (without breast cancer) 0 37 0 8 1 0 1 10
CHEK2-related disorder 0 17 0 2 2 0 5 9
STK11-related disorder 0 8 0 2 4 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 0 10 0 3 0 0 2 5
CDH1-related disorder 0 17 0 2 3 0 0 5
MSH2-related disorder 0 18 0 1 4 0 0 5
PALB2-related disorder 0 25 0 1 4 0 0 5
PMS2-related disorder 0 18 0 2 2 0 1 5
RAD51D-related disorder 0 4 0 1 4 0 0 5
TP53-related disorder 0 12 0 3 2 0 0 5
Inherited prostate cancer 0 7 0 4 0 0 0 4
MSH6-related disorder 0 24 0 0 4 0 0 4
Predisposition to cancer 0 7 0 0 1 0 3 4
BRIP1-related disorder 0 20 0 2 1 0 0 3
Breast and colorectal cancer, susceptibility to 0 4 0 1 0 0 2 3
Autosomal dominant BRCA2-related cancer types 0 0 0 2 0 0 0 2
BARD1-related disorder 0 7 0 0 2 0 0 2
Breast cancer, susceptibility to 0 2 1 1 0 0 0 2
Inherited MMR deficiency (Lynch syndrome) 0 6 0 2 0 0 0 2
MLH1-related disorder 0 15 0 0 2 0 0 2
See cases 0 2 0 1 1 0 0 2
Astrocytoma IDH-mutant 0 1 1 0 0 0 0 1
Breast cancer, early-onset 0 1 0 0 0 0 1 1
Breast cancer, susceptibility to; Prostate cancer susceptibility 0 0 0 1 0 0 0 1
CHEK2-related cancer risk 0 0 0 1 0 0 0 1
Colorectal / endometrial cancer 0 0 0 1 0 0 0 1
Colorectal cancer, sporadic, susceptibility to 0 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 0 1 0 0 1
Genetic non-acquired premature ovarian failure 0 0 0 1 0 0 0 1
HOXB13-Related Cancer Predisposition 0 0 0 1 0 0 0 1
HOXB13-related disorder 0 0 0 1 0 0 0 1
PMS2-related cancer disorders 0 0 0 1 0 0 0 1
PTEN-related disorder 0 5 0 0 1 0 0 1
Pancreatic cancer, susceptibility to 0 0 1 0 0 0 0 1
Poly (ADP-Ribose) polymerase inhibitor response 0 0 0 0 0 1 0 1
Prostate cancer susceptibility 0 0 0 1 0 0 0 1
RAD51C-related disorder 0 9 0 0 0 0 1 1
TUMOR PREDISPOSITION SYNDROME 4, BREAST 0 0 0 1 0 0 0 1
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL 0 1 0 0 0 0 1 1
Tip-toe gait 0 5 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 1108
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02833
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.01882
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01739
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01300
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01296
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01106
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.00975
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00910
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00895
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00725
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00657
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00608
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00584
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00548
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00514
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00504
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00477
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00474
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00439
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00424
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00423
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00394
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00387
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00381
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00340
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00333
NM_004360.5(CDH1):c.833-16C>G rs33984587 0.00332
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00324
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00318
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00300
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00280
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00247
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00247
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00242
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00215
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00212
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00211
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_024675.4(PALB2):c.1810C>T (p.Leu604=) rs144015319 0.00202
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00185
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00184
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00183
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00182
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00172
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00166
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00166
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00164
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00156
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00154
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00152
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00151
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00151
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00149
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00136
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00135
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00128
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00127
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00121
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00116
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00109
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_058216.3(RAD51C):c.837+13T>C rs188613030 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00101
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00100
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=) rs34490141 0.00100
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00098
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00098
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00092
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00092
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00090
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00086
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00085
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00083
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00081
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00079
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_007294.4(BRCA1):c.-86C>T rs143160357 0.00077
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00063
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00063
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser) rs70953660 0.00059
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00056
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_024675.4(PALB2):c.2749-18C>T rs182194007 0.00053
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00051
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00050
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00050
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00049
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000465.4(BARD1):c.215+12C>T rs373816832 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00044
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00043
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00043
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00042
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00038
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00038
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00033
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00032
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00032
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00032
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00030
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00030
NM_058216.3(RAD51C):c.571+16A>G rs141621051 0.00030
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000179.3(MSH6):c.-18G>T rs199913053 0.00029
NM_000249.4(MLH1):c.1897-17C>G rs2308316 0.00029
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00028
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00027
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00027
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00027
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00027
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00025
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00025
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00025
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00025
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00025
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00025
NM_000059.4(BRCA2):c.6455C>A (p.Ser2152Tyr) rs80358881 0.00024
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00024
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 0.00022
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00022
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00021
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg) rs587782484 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_000051.4(ATM):c.3402+17T>C rs3092825 0.00020
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00020
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00020
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_002878.4(RAD51D):c.196G>A (p.Val66Met) rs56026142 0.00019
NM_004360.5(CDH1):c.1296C>T (p.Asn432=) rs187862045 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00018
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095 0.00018
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00018
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00018
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00018
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00016
NM_000179.3(MSH6):c.2925C>T (p.Asn975=) rs139026662 0.00016
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00015
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00015
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_004360.5(CDH1):c.1353T>C (p.Ile451=) rs114192597 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00013
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_024675.4(PALB2):c.232G>A (p.Val78Ile) rs515726085 0.00013
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00012
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00012
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=) rs61754142 0.00012
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00012
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.2376+20G>C rs140364468 0.00011
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00011
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038 0.00011
NM_004360.5(CDH1):c.*8G>A rs201223411 0.00011
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000051.4(ATM):c.7789-15G>C rs781449587 0.00010
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=) rs587780531 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000251.3(MSH2):c.2210+7G>T rs374675118 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000465.4(BARD1):c.2002-11C>T rs187240320 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.5583G>A (p.Leu1861=) rs781383087 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys) rs431825347 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=) rs587780675 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00009
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00009
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00009
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00009
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00009
NM_000546.6(TP53):c.993+13G>C rs369599972 0.00009
NM_002878.4(RAD51D):c.145-4G>A rs201361465 0.00009
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00009
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val) rs2276331 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg) rs80358566 0.00008
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.1662-10C>T rs752606387 0.00008
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys) rs41295286 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000455.5(STK11):c.734+20G>A rs375315233 0.00008
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00008
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00008
NM_004360.5(CDH1):c.894C>T (p.Ala298=) rs139110184 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00007
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00007
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00007
NM_000535.7(PMS2):c.1145-10G>A rs533551639 0.00007
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00007
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00007
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=) rs56076152 0.00006
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.1273G>A (p.Val425Met) rs576081828 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00005
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=) rs376969448 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00005
NM_002878.4(RAD51D):c.346-10C>T rs779972784 0.00005
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00005
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00005
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119 0.00005
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00005
NM_024675.4(PALB2):c.2442G>A (p.Glu814=) rs140776736 0.00005
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00005
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00005
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00005
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.6114C>T (p.His2038=) rs774993357 0.00004
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00004
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382 0.00004
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00004
NM_000179.3(MSH6):c.1068T>C (p.Gly356=) rs749752524 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.4001+10dup rs730882138 0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala) rs587781275 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.1590C>T (p.Phe530=) rs752241564 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg) rs749660228 0.00004
NM_000251.3(MSH2):c.958A>G (p.Thr320Ala) rs368982417 0.00004
NM_000455.5(STK11):c.1044C>T (p.Asp348=) rs778274196 0.00004
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000465.4(BARD1):c.783A>G (p.Leu261=) rs201862973 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00004
NM_004360.5(CDH1):c.2280C>T (p.Gly760=) rs768547540 0.00004
NM_004360.5(CDH1):c.2637C>T (p.Gly879=) rs141001592 0.00004
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00004
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6452+5T>A rs533830556 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00003
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00003
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=) rs4986856 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723 0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.7287G>A (p.Glu2429=) rs786202210 0.00003
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=) rs556762256 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00003
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val) rs80359162 0.00003
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg) rs80359167 0.00003
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00003
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00003
NM_000179.3(MSH6):c.362G>A (p.Arg121His) rs769279475 0.00003
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00003
NM_000249.4(MLH1):c.1067C>T (p.Ser356Phe) rs749334262 0.00003
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00003
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn) rs200076893 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 0.00003
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg) rs587781795 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_002878.4(RAD51D):c.145-13G>T rs760867838 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00003
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00003
NM_004360.5(CDH1):c.1173C>T (p.Val391=) rs148080550 0.00003
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176 0.00003
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00003
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00003
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala) rs80358528 0.00002
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00002
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro) rs730881538 0.00002
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499 0.00002
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg) rs28897737 0.00002
NM_000059.4(BRCA2):c.6738A>G (p.Pro2246=) rs760272304 0.00002
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu) rs80359036 0.00002
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu) rs786201996 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=) rs730881823 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.3801+14G>T rs755626529 0.00002
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln) rs55760494 0.00002
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn) rs373767220 0.00002
NM_000249.4(MLH1):c.1642T>C (p.Tyr548His) rs780317287 0.00002
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000251.3(MSH2):c.232G>A (p.Val78Ile) rs772779997 0.00002
NM_000251.3(MSH2):c.943-6T>C rs768644134 0.00002
NM_000455.5(STK11):c.464+5G>A rs587781681 0.00002
NM_000465.4(BARD1):c.159T>C (p.Cys53=) rs201708813 0.00002
NM_000535.7(PMS2):c.-18G>C rs200624125 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000546.6(TP53):c.582T>C (p.Leu194=) rs370216745 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994 0.00002
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501 0.00002
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=) rs754152768 0.00002
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524 0.00002
NM_032043.3(BRIP1):c.2906-7T>C rs1237575383 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_058216.3(RAD51C):c.945T>C (p.Phe315=) rs201235884 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00001
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.4492T>C (p.Leu1498=) rs748949478 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.7116T>C (p.Asp2372=) rs3218675 0.00001
NM_000051.4(ATM):c.7500C>T (p.Val2500=) rs1060504286 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000059.4(BRCA2):c.1059A>G (p.Ser353=) rs730881585 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459 0.00001
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2751A>G (p.Val917=) rs765644162 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.3874C>T (p.Leu1292=) rs587780867 0.00001
NM_000059.4(BRCA2):c.4179G>A (p.Ala1393=) rs770531115 0.00001
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664 0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg) rs276174845 0.00001
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn) rs80358745 0.00001
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00001
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro) rs80358797 0.00001
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377 0.00001
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met) rs80358889 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr) rs80358974 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) rs786204274 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785 0.00001
NM_000059.4(BRCA2):c.8428A>G (p.Ser2810Gly) rs80359089 0.00001
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152 0.00001
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln) rs80359171 0.00001
NM_000059.4(BRCA2):c.9257-8C>T rs11571819 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp) rs373726731 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg) rs201096652 0.00001
NM_000179.3(MSH6):c.2603T>C (p.Met868Thr) rs780280765 0.00001
NM_000179.3(MSH6):c.3101G>A (p.Arg1034Gln) rs181727939 0.00001
NM_000179.3(MSH6):c.3438+8dup rs878853734 0.00001
NM_000179.3(MSH6):c.3565A>G (p.Thr1189Ala) rs753778809 0.00001
NM_000179.3(MSH6):c.3675G>A (p.Thr1225=) rs730881820 0.00001
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro) rs730881809 0.00001
NM_000179.3(MSH6):c.898C>T (p.Arg300Trp) rs779858670 0.00001
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) rs369568820 0.00001
NM_000249.4(MLH1):c.1038+8C>A rs751872237 0.00001
NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly) rs864622687 0.00001
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln) rs587778917 0.00001
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000249.4(MLH1):c.343A>G (p.Ile115Val) rs371667663 0.00001
NM_000251.3(MSH2):c.-8G>A rs1064795641 0.00001
NM_000251.3(MSH2):c.1077-3C>T rs758182607 0.00001
NM_000251.3(MSH2):c.1145G>A (p.Arg382His) rs267607947 0.00001
NM_000251.3(MSH2):c.1378A>G (p.Met460Val) rs575905950 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile) rs864622079 0.00001
NM_000251.3(MSH2):c.2211-15A>T rs776161776 0.00001
NM_000251.3(MSH2):c.2710A>G (p.Ile904Val) rs1463743654 0.00001
NM_000251.3(MSH2):c.2726A>G (p.Lys909Arg) rs34319539 0.00001
NM_000251.3(MSH2):c.2728C>A (p.Gln910Lys) rs775130557 0.00001
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala) rs765489269 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000455.5(STK11):c.-1C>T rs759284466 0.00001
NM_000455.5(STK11):c.1108+3G>A rs755746417 0.00001
NM_000455.5(STK11):c.464+4C>T rs373167735 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00001
NM_000535.7(PMS2):c.1368T>C (p.Ser456=) rs587780723 0.00001
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315 0.00001
NM_000535.7(PMS2):c.5A>G (p.Glu2Gly) rs876658233 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_002878.4(RAD51D):c.667+9T>C rs772193051 0.00001
NM_004360.5(CDH1):c.1977G>A (p.Glu659=) rs368243190 0.00001
NM_004360.5(CDH1):c.388-4T>C rs750722169 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.2523G>A (p.Arg841=) rs773013395 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034 0.00001
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218 0.00001
NM_007294.4(BRCA1):c.4357+7A>G rs431825407 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu) rs80357180 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5152+10A>G rs80358114 0.00001
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=) rs730881456 0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942 0.00001
NM_024675.4(PALB2):c.1662A>G (p.Glu554=) rs786202692 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.2277A>G (p.Gln759=) rs786202524 0.00001
NM_032043.3(BRIP1):c.1071A>G (p.Glu357=) rs761017296 0.00001
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=) rs374335608 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1236-4_1236-3del rs34325032
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2922-9_2922-8del rs373881770
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.7516-9dup rs573494809
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8644_8647del (p.Ser2882fs) rs2137083265
NM_000051.4(ATM):c.8850+1G>A rs1555143620
NM_000051.4(ATM):c.8851-10C>T rs1057521676
NM_000059.4(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del) rs11571587
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000059.4(BRCA2):c.2396A>G (p.Lys799Arg) rs1555282656
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter) rs80358561
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr) rs80358646
NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter) rs747070579
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4118T>C (p.Met1373Thr) rs750581150
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly) rs80358799
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg) rs397507366
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs) rs80359614
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.4(BRCA2):c.68-6A>T rs1555280325
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly) rs80358957
NM_000059.4(BRCA2):c.741C>T (p.Ile247=) rs276174892
NM_000059.4(BRCA2):c.7436-10T>C rs398122582
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8488-5T>C rs533806629
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8954-5_8954-2del rs587782878
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000179.3(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2398G>A (p.Val800Ile) rs61748083
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3173-18T>A rs189672273
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.3(MSH6):c.3348C>G (p.Gly1116=) rs771833309
NM_000179.3(MSH6):c.3557-5_3557-4del rs267608102
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-11_4002-10del rs59056100
NM_000179.3(MSH6):c.4002-13_4002-10del rs59056100
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe) rs863224628
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000249.4(MLH1):c.1039-10_1039-8dup rs57509953
NM_000249.4(MLH1):c.1039-6dup rs1553650466
NM_000249.4(MLH1):c.1039-8del rs57509953
NM_000249.4(MLH1):c.1039-9_1039-8dup rs57509953
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser) rs143009528
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1902G>C (p.Gly634=) rs376866470
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.381-5A>G rs1060504016
NM_000249.4(MLH1):c.516A>G (p.Glu172=) rs748128054
NM_000249.4(MLH1):c.589-9_589-6del rs587779026
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000251.3(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser) rs1487094949
NM_000251.3(MSH2):c.1922G>A (p.Cys641Tyr) rs786204110
NM_000251.3(MSH2):c.2043A>G (p.Gln681=) rs730881763
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.3(MSH2):c.212-4dup rs746333570
NM_000251.3(MSH2):c.23C>G (p.Thr8Arg) rs17217716
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly) rs63750797
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg) rs587780686
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.942+17_942+29del rs11309117
NM_000251.3(MSH2):c.942+20_942+29del rs11309117
NM_000251.3(MSH2):c.942+24_942+29del rs11309117
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.802-5_802-3del rs34003473
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000455.5(STK11):c.318G>T (p.Arg106=) rs777784520
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.597+21dup rs534445875
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000535.7(PMS2):c.1145-11C>T rs558565527
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-5_706-4dup rs60794673
NM_000535.7(PMS2):c.706-6_706-4del rs60794673
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.7(PMS2):c.97C>T (p.Leu33=) rs878854061
NM_000535.7(PMS2):c.989-21_989-20del rs745927005
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002878.4(RAD51D):c.748del (p.His250fs) rs587780105
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.2205G>A (p.Ala735=) rs138493551
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs) rs2054330803
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) rs752876192
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr) rs397507187
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) rs80357797
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.4(BRCA1):c.4485-8C>A rs397507234
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.5406+9T>C rs80358040
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_024675.4(PALB2):c.1684+18TGA[9] rs368593832
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) rs876658983
NM_024675.4(PALB2):c.3202-8G>T rs367979106
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1795-12_1795-10del rs1475317357
NM_032043.3(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719

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