ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Genetic Services Laboratory,University of Chicago

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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
0 1116 1 618 243 2 22 885

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.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 0 22 1 0 0 0 1
likely pathogenic 24 0 9 0 1 0 0
uncertain significance 4 7 1 26 1 1 0
likely benign 0 0 157 0 125 0 0
benign 0 0 59 447 0 0 0

All variants with conflicting interpretations #

Total variants: 885
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_078470.6(COX15):c.*1126T>C rs2231687 0.84288
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81576
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.78613
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.74828
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.73859
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69756
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68227
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.67732
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.67137
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66821
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64983
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.63160
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63041
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60864
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.56447
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56364
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.42862
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40886
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.34995
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.34993
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.34908
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34424
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.34292
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29750
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.27830
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24611
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.24261
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.24226
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.23475
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.22326
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19058
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17648
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17056
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16232
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16150
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.16113
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491 0.16006
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15862
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15800
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12475
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.11514
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.10839
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.09781
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.09409
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_001267550.2(TTN):c.68217T>C (p.His22739_Pro22740=) rs10497517 0.08393
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07631
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07422
NM_001267550.2(TTN):c.42783A>G (p.Lys14261_Trp14262=) rs16866425 0.07162
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07130
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.06939
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.06909
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.06866
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06865
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.06165
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.05099
NM_001267550.2(TTN):c.22080T>C (p.Asp7360_Thr7361=) rs16866473 0.05020
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04910
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04809
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.04594
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.04367
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04106
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03913
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03503
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03270
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03220
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03076
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02667
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02557
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02545
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001267550.2(TTN):c.52917T>C (p.Asp17639_Tyr17640=) rs73036398 0.02352
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.02352
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.02350
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.02343
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001267550.2(TTN):c.86811A>G (p.Val28937_Lys28938=) rs55972010 0.02220
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02212
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02100
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02054
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303_Leu8304=) rs72648983 0.01872
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_001267550.2(TTN):c.22611T>C (p.His7537_Val7538=) rs16866469 0.01765
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01751
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01622
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01570
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01538
NM_001267550.2(TTN):c.92901C>T (p.Ser30967_Leu30968=) rs11694623 0.01535
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01368
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_001267550.2(TTN):c.18390A>T (p.Thr6130_Gly6131=) rs66523653 0.01328
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.23001G>A (p.Thr7667_Ile7668=) rs16866467 0.01263
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01234
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01217
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01163
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001267550.2(TTN):c.47400G>A (p.Lys15800_Thr15801=) rs114145817 0.01143
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01137
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.01131
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01129
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01026
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=) rs145252235 0.00972
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.00963
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00845
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00838
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00825
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00793
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00780
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843_Tyr18844=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00672
NM_001267550.2(TTN):c.95259C>T (p.Leu31753_Asn31754=) rs72648258 0.00667
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00647
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00647
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_001267550.2(TTN):c.64032C>T (p.Asn21344_Glu21345=) rs72646857 0.00644
NM_001267550.2(TTN):c.19383T>C (p.Asn6461_Asp6462=) rs76771282 0.00636
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00624
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00623
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00586
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00577
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00564
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_001267550.2(TTN):c.29178C>A (p.Ile9726_Pro9727=) rs72650003 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00526
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00510
NM_001267550.2(TTN):c.33063A>G (p.Glu11021_Arg11022=) rs115744476 0.00508
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00463
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00430
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_174936.4(PCSK9):c.1431C>T (p.Cys477_Ala478=) rs28362268 0.00417
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044_Glu24045=) rs56169243 0.00400
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00398
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00395
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00395
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00392
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00363
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00347
NM_001267550.2(TTN):c.70815G>A (p.Val23605_Met23606=) rs55847238 0.00347
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00331
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00328
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00325
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_006231.4(POLE):c.123G>A (p.Thr41=) rs5744734 0.00320
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00281
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00278
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.41103C>T (p.Gly13701_Ser13702=) rs72650077 0.00274
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00274
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00265
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00255
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_174936.4(PCSK9):c.1395G>A (p.Ser465_Gly466=) rs146960060 0.00249
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00239
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00239
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00217
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587_Cys588=) rs80356813 0.00210
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00201
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00201
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00198
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00198
NM_006231.4(POLE):c.2106G>T (p.Gly702=) rs5744801 0.00198
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00194
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00188
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00188
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00185
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00175
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00175
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574_Asp25575=) rs55696153 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00169
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00162
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00162
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00162
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=) rs143189394 0.00158
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_002691.4(POLD1):c.971-4G>A rs200144991 0.00152
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00150
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
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_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00134
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00131
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00127
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00127
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00127
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00124
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00121
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_001267550.2(TTN):c.94846C>T (p.Leu31616_Asp31617=) rs72648255 0.00117
NM_003184.4(TAF2):c.157A>G (p.Ile53Val) rs112002462 0.00117
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00112
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00108
NM_001267550.2(TTN):c.80322C>T (p.Ala26774_Val26775=) rs55892928 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00106
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00099
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=) rs34490141 0.00096
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00096
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00096
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00092
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00092
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00092
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00086
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00086
NM_020975.6(RET):c.1197G>A (p.Pro399_Val400=) rs148371113 0.00086
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_001267550.2(TTN):c.75738A>G (p.Glu25246_Thr25247=) rs371344165 0.00080
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=) rs77460377 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00073
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_001267550.2(TTN):c.106578T>A (p.Ser35526_Glu35527=) rs55838839 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00067
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00067
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00067
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00067
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00067
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00064
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00062
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00061
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00061
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00061
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00061
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=) rs140556653 0.00059
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664_Val1665=) rs142459158 0.00057
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00054
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00054
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp) rs141276237 0.00053
NM_000051.4(ATM):c.8592C>T (p.Tyr2864_Ile2865=) rs56025670 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00048
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00048
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00045
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00045
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00041
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00041
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00041
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00041
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=) rs17879258 0.00039
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00038
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00038
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00035
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00035
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00032
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00032
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00029
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00029
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00029
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00029
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00026
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00026
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00025
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00025
NM_000162.5(GCK):c.1288C>T (p.Leu430=) rs193922276 0.00025
NM_002485.5(NBN):c.939G>A (p.Ala313=) rs145750430 0.00025
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00025
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00025
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00022
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00022
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00022
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00022
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00022
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00022
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 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.435T>G (p.Ile145Met) rs63750124 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00019
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) rs139701269 0.00019
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00016
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00016
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00016
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00016
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00016
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00016
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00016
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00016
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00016
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00016
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00015
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_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00013
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00013
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00013
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00013
NM_032957.4(RTEL1):c.3028C>T rs373740199 0.00013
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000546.6(TP53):c.97-9C>T rs202217267 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_005188.4(CBL):c.1432-6C>T rs371919794 0.00011
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00010
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00010
NM_000546.6(TP53):c.217G>A (p.Val73Met) rs587782423 0.00010
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00010
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00010
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00010
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00010
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00010
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000546.6(TP53):c.474C>T (p.Arg158=) rs139200646 0.00009
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
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.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919 0.00006
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731 0.00006
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00006
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000179.3(MSH6):c.2724A>G (p.Glu908=) rs35389622 0.00006
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00006
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00006
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 0.00006
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00005
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 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.3840T>C (p.Asp1280=) rs786201327 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00004
NM_000465.4(BARD1):c.365-7C>T rs745929983 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00003
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00003
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00003
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00003
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00003
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00003
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser) rs780187989 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 0.00003
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00003
NM_000455.5(STK11):c.-2G>T rs774072752 0.00003
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00003
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00003
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00003
NM_002485.5(NBN):c.584+9T>C rs746913991 0.00003
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) rs553907248 0.00003
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00003
NM_004360.5(CDH1):c.688-4T>C rs781633588 0.00003
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00003
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=) rs555200296 0.00003
NM_000038.6(APC):c.835-3T>C rs372090940 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_001267550.2(TTN):c.29397C>T (p.Gly9799=) rs770084292 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) rs72541813
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=) rs786201315
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=) rs780721021
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.8488-5T>C rs533806629
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.617C>T (p.Thr206Met)
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000179.3(MSH6):c.2986T>C (p.Leu996=) rs876658605
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu) rs193922401
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10848del (p.Gly3617fs) rs982371659
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001126049.2(KLLN):c.-1007C>T rs587780001
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly)
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357_Gly30358=) rs11897366
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) rs797045889
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter) rs2068650679
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup) rs373212940
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_018062.4(FANCL):c.1096_1099dup (p.Thr367fs) rs759217526
NM_024675.4(PALB2):c.212-10del rs766487430
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_207346.3(TSEN54):c.1335del (p.Leu446fs) rs587784476

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