ClinVar Miner

List of variants reported as likely benign by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2228
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_004360.5(CDH1):c.*54C>T rs1801026 0.17023
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13898
NM_002691.4(POLD1):c.3218+10A>G rs2463239 0.11362
NM_000478.6(ALPL):c.1189+19G>T rs61778393 0.02227
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_000492.4(CFTR):c.489+91A>G rs56094102 0.02063
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01261
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_000128.4(F11):c.-54G>A rs4253814 0.01170
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000101.3(CYBA):c.-70G>A rs72550704 0.00941
NM_006231.4(POLE):c.3265_3275+15dup rs1555225627 0.00913
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_001142800.2(EYS):c.6726-24613G>T rs151229098 0.00698
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00690
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933 0.00525
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122 0.00472
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453 0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_006231.4(POLE):c.5811+16T>C rs115381003 0.00423
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_002691.4(POLD1):c.*54C>A rs117012238 0.00414
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_014249.4(NR2E3):c.245+8C>T rs9920371 0.00409
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg) rs559836164 0.00365
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_012144.4(DNAI1):c.639G>A (p.Thr213=) rs78865254 0.00348
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_000520.6(HEXA):c.253+5074C>T rs149661366 0.00322
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_004168.4(SDHA):c.1664-24del rs534296796 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000077.5(CDKN2A):c.150+216A>G rs147602781 0.00277
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) rs80207011 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_005591.4(MRE11):c.969A>G (p.Pro323=) rs13447633 0.00258
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
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 0.00228
NM_001875.5(CPS1):c.4102-561T>C rs550848657 0.00220
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_002878.4(RAD51D):c.771C>T (p.Ser257=) rs146212490 0.00206
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_198129.4(LAMA3):c.9559C>T (p.Arg3187Cys) rs150956802 0.00200
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_002878.4(RAD51D):c.-99T>C rs533209845 0.00193
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_006231.4(POLE):c.5811+13C>T rs150195182 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_005732.4(RAD50):c.3165-8T>G rs369581851 0.00189
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000018.4(ACADVL):c.1752-36G>A rs200709964 0.00173
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_000018.4(ACADVL):c.752+24C>T rs201030339 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_000520.6(HEXA):c.1146+8G>A rs201453018 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_001370259.2(MEN1):c.-20G>A rs386134244 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766 0.00153
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_000179.3(MSH6):c.3801+21T>C rs34315174 0.00151
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
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_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_058195.4(CDKN2A):c.194-3652G>C rs531597737 0.00134
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_002878.4(RAD51D):c.263+1509C>T rs201506572 0.00116
NM_001048174.2(MUTYH):c.914-27G>A rs188830619 0.00113
NM_024675.4(PALB2):c.2834+18A>T rs114491776 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_000159.4(GCDH):c.636-38G>A rs138216703 0.00108
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000059.4(BRCA2):c.7805+23G>A rs113653200 0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000249.4(MLH1):c.589-25G>A rs188146618 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00096
NM_002691.4(POLD1):c.3120+12G>A rs182231620 0.00094
NM_015166.4(MLC1):c.177+15A>G rs148099137 0.00092
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_002691.4(POLD1):c.971-19G>A rs56022846 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000528.4(MAN2B1):c.1109+41C>A rs200862799 0.00083
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_000455.5(STK11):c.920+32G>A rs374147918 0.00080
NM_002691.4(POLD1):c.2565-17G>A rs200576676 0.00078
NM_002878.4(RAD51D):c.263+1570T>A rs376472075 0.00078
NM_007294.4(BRCA1):c.5278-22C>T rs185646848 0.00078
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.81-12C>G rs80358055 0.00066
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_001164508.2(NEB):c.23241+16C>T rs75221580 0.00061
NM_002691.4(POLD1):c.3218+17G>A rs375490101 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000179.3(MSH6):c.1869C>T (p.Pro623=) rs141242295 0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NR_003051.3(RMRP):n.-12A>C rs372044910 0.00058
NM_001369.3(DNAH5):c.11570+124G>C rs543104462 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000110.4(DPYD):c.2766+19A>G rs375268978 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00055
NM_024675.4(PALB2):c.2749-18C>T rs182194007 0.00055
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_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 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_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_000035.4(ALDOB):c.799+11C>T rs182245025 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_001164277.2(SLC37A4):c.985+228C>G rs201997939 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
NM_006231.4(POLE):c.63-14C>T rs373998767 0.00048
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=) rs11571832 0.00047
NM_000383.4(AIRE):c.1567-18C>T rs372108131 0.00047
NM_000426.4(LAMA2):c.6269-831C>G rs371162111 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=) rs373425206 0.00042
NM_004360.5(CDH1):c.1138-3C>T rs36103202 0.00042
NM_007294.4(BRCA1):c.-20+11C>T rs273898672 0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_002691.4(POLD1):c.3068-14C>T rs3218758 0.00041
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=) rs36074916 0.00041
NM_003000.3(SDHB):c.287-26A>G rs201397253 0.00040
NM_000329.3(RPE65):c.644-42del rs61752893 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_000159.4(GCDH):c.636-18C>T rs183109666 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000520.6(HEXA):c.1074-100T>C rs868411141 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_002878.4(RAD51D):c.904-11T>A rs374449943 0.00038
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399 0.00038
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_000038.6(APC):c.730-22G>C rs115634618 0.00037
NM_000030.3(AGXT):c.777-17C>A rs112319664 0.00036
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085 0.00036
NM_000051.4(ATM):c.8010+185_8010+186del rs984385407 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_058195.4(CDKN2A):c.-28C>G rs149253558 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_058216.3(RAD51C):c.571+16A>G rs141621051 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000277.3(PAH):c.969+7C>T rs80324017 0.00032
NM_003001.5(SDHC):c.20+22G>C rs182261879 0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_000018.4(ACADVL):c.343-41C>A rs368107662 0.00031
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000051.4(ATM):c.4612-32_4612-30del rs113149503 0.00031
NM_000151.4(G6PC1):c.340+20C>T rs183285298 0.00031
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_002691.4(POLD1):c.3121-14G>A rs367766963 0.00031
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_007294.4(BRCA1):c.5193+22C>T rs8176260 0.00031
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000414.4(HSD17B4):c.1261+14A>G rs371682983 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_002691.4(POLD1):c.3219-19C>A rs374168125 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=) rs148690585 0.00028
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000441.2(SLC26A4):c.1001+30A>G rs556184448 0.00026
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
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.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_004168.4(SDHA):c.895+13G>A rs201461936 0.00025
NM_000018.4(ACADVL):c.1751+18G>A rs528002997 0.00024
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_014249.4(NR2E3):c.571+51C>T rs200759758 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=) rs374360796 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_000455.5(STK11):c.290+22C>T rs371255627 0.00023
NM_002691.4(POLD1):c.1137+16C>T rs56082047 0.00023
NM_002878.4(RAD51D):c.263+1605G>A rs147933658 0.00023
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 0.00022
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_007294.4(BRCA1):c.807G>A (p.Leu269=) rs149867679 0.00022
NM_020975.6(RET):c.337+34C>T rs368088467 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=) rs148880015 0.00021
NM_000077.5(CDKN2A):c.458-492G>C rs527814073 0.00021
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) rs199634245 0.00021
NM_005591.4(MRE11):c.845+11T>C rs140145979 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=) rs140588714 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_032043.3(BRIP1):c.852C>T (p.Val284=) rs144940449 0.00021
NM_206933.4(USH2A):c.1550+10T>C rs200728788 0.00021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.7805+13A>G rs149769332 0.00019
NM_000059.4(BRCA2):c.8487+8G>A rs81002838 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000251.3(MSH2):c.1276+47T>A rs148018406 0.00019
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
NM_001164277.2(SLC37A4):c.1124+36C>G rs547915912 0.00019
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263 0.00019
NM_002691.4(POLD1):c.2155-8C>T rs759802920 0.00019
NM_002878.4(RAD51D):c.264-14del rs757481281 0.00019
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_006231.4(POLE):c.6532-19G>T rs201114228 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_020975.6(RET):c.73+9278G>A rs537638504 0.00019
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001048174.2(MUTYH):c.420+16G>A rs576152721 0.00018
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_001692.4(ATP6V1B1):c.785+10C>T rs76241121 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=) rs202240122 0.00017
NM_002691.4(POLD1):c.2006+16C>T rs372942171 0.00017
NM_005359.6(SMAD4):c.904+14T>C rs200973136 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_133259.4(LRPPRC):c.1649+11C>T rs200115839 0.00017
NM_000018.4(ACADVL):c.1678+39C>G rs377062362 0.00016
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000077.5(CDKN2A):c.151-14G>A rs767030551 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000179.3(MSH6):c.2925C>T (p.Asn975=) rs139026662 0.00016
NM_000251.3(MSH2):c.1276+16G>A rs368120695 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000520.6(HEXA):c.1073+51G>A rs545676277 0.00016
NM_001113525.2(ZNF276):c.*1674G>C rs56216970 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_003000.3(SDHB):c.642+17T>C rs200597595 0.00016
NM_014249.4(NR2E3):c.571+65C>T rs538878781 0.00016
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_000018.4(ACADVL):c.1605+22A>G rs1052646012 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000271.5(NPC1):c.3477+14C>T rs56043719 0.00014
NM_000277.3(PAH):c.442-18G>A rs149538764 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000551.4(VHL):c.246C>T (p.Arg82=) rs587780993 0.00014
NM_002691.4(POLD1):c.758+8C>G rs377133822 0.00014
NM_007294.4(BRCA1):c.5194-18G>T rs80358090 0.00014
NM_020975.6(RET):c.1017G>A (p.Ser339=) rs369810881 0.00014
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_032043.3(BRIP1):c.595C>T (p.Leu199=) rs144969738 0.00014
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059 0.00014
NM_000018.4(ACADVL):c.342+25C>T rs771711857 0.00013
NM_000038.6(APC):c.1548+17T>C rs367690523 0.00013
NM_000249.4(MLH1):c.117-48A>G rs377111182 0.00013
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043 0.00013
NM_000520.6(HEXA):c.253+5107G>A rs748336538 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_001164277.2(SLC37A4):c.148+20G>A rs782050642 0.00013
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=) rs370489767 0.00013
NM_002691.4(POLD1):c.2251-8G>A rs56051075 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_020975.6(RET):c.1893C>T (p.Asp631=) rs55846256 0.00013
NM_024675.4(PALB2):c.48+7G>C rs190626072 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000282.4(PCCA):c.300+20G>T rs371217257 0.00012
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_001048174.2(MUTYH):c.1393-17C>G rs199664013 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=) rs201316401 0.00012
NM_002691.4(POLD1):c.1495-14G>A rs542376819 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 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_007294.4(BRCA1):c.5304C>T (p.Cys1768=) rs138493864 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130 0.00012
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=) rs367622610 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001048174.2(MUTYH):c.132G>A (p.Pro44=) rs144551668 0.00011
NM_001369.3(DNAH5):c.4053+13C>T rs543363871 0.00011
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) rs559635859 0.00011
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_006231.4(POLE):c.1226+13G>A rs577646338 0.00011
NM_006231.4(POLE):c.4291-11G>A rs369564167 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_007194.4(CHEK2):c.1008+13C>T rs193264230 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_007294.4(BRCA1):c.5278-20C>T rs193149108 0.00011
NM_020975.6(RET):c.1437C>T (p.Ala479=) rs576806356 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_020975.6(RET):c.337+11C>T rs754967305 0.00011
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln) rs387907487 0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln) rs368990025 0.00011
NM_000018.4(ACADVL):c.1751+46C>G rs375203448 0.00010
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000059.4(BRCA2):c.8633-16C>G rs81002818 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000251.3(MSH2):c.1662-23A>G rs56404027 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.802-54_802-16del rs1028746954 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.1804-23T>C rs370827220 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110 0.00010
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000546.6(TP53):c.673-37C>T rs374907737 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001048174.2(MUTYH):c.-6-7G>A rs780029247 0.00010
NM_001164277.2(SLC37A4):c.1124+25T>C rs782603352 0.00010
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_001378454.1(ALMS1):c.12298+14G>A rs755931726 0.00010
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) rs141969350 0.00010
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084 0.00010
NM_020975.6(RET):c.1879+17C>T rs369920430 0.00010
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900 0.00010
NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer) rs778770773 0.00010
NM_000018.4(ACADVL):c.277+24T>C rs199945418 0.00009
NM_000038.6(APC):c.1958+10G>T rs375175370 0.00009
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 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.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000152.5(GAA):c.1754+21C>T rs373387713 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000251.3(MSH2):c.367-19A>T rs730881783 0.00009
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
NM_005591.4(MRE11):c.2070+14A>C rs369127675 0.00009
NM_006231.4(POLE):c.4005+20G>A rs775205537 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.2136+15G>A rs751183869 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.1431C>T (p.Thr477=) rs515726068 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_032043.3(BRIP1):c.93+15G>A rs113052745 0.00009
NM_152564.5(VPS13B):c.7780-19C>T rs199981958 0.00009
NM_152564.5(VPS13B):c.7950C>T (p.His2650=) rs61754503 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000179.3(MSH6):c.457+19_457+20del rs1491215647 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_000251.3(MSH2):c.2458+16G>A rs373624698 0.00008
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928 0.00008
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_002691.4(POLD1):c.2718-4G>A rs755348897 0.00008
NM_002878.4(RAD51D):c.263+1627C>T rs188981311 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_007294.4(BRCA1):c.987T>C (p.Asn329=) rs774849810 0.00008
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573 0.00008
NM_000018.4(ACADVL):c.63-31C>T rs372982295 0.00007
NM_000038.6(APC):c.934-14C>T rs778707022 0.00007
NM_000059.4(BRCA2):c.8953+16C>T rs81002892 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.545+19G>T rs41285099 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000455.5(STK11):c.734+20G>A rs375315233 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000551.4(VHL):c.135G>A (p.Pro45=) rs773519476 0.00007
NM_001048174.2(MUTYH):c.21C>T (p.Ala7=) rs201982344 0.00007
NM_001164277.2(SLC37A4):c.626+25C>T rs533221443 0.00007
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895 0.00007
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940 0.00007
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_020975.6(RET):c.1182C>T (p.Asn394=) rs376465385 0.00007
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 0.00007
NM_000018.4(ACADVL):c.62+18G>A rs780776419 0.00006
NM_000038.6(APC):c.789T>A (p.Gly263=) rs767053295 0.00006
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000136.3(FANCC):c.1329+238C>T rs768988593 0.00006
NM_000155.4(GALT):c.821-46G>T rs111033776 0.00006
NM_000159.4(GCDH):c.636-24C>G rs762538155 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.178T>C (p.Leu60=) rs35819209 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.117-39G>A rs1057517605 0.00006
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00006
NM_000249.4(MLH1):c.954C>T (p.His318=) rs146777069 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000277.3(PAH):c.352+11G>C rs371926082 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000455.5(STK11):c.1109-21C>T rs371145906 0.00006
NM_000455.5(STK11):c.920+28C>T rs371039379 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.803+23A>T rs370719706 0.00006
NM_000543.5(SMPD1):c.1497G>A (p.Val499=) rs749498245 0.00006
NM_000546.6(TP53):c.97-28T>A rs200989844 0.00006
NM_000546.6(TP53):c.993+234G>A rs17883348 0.00006
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=) rs730881838 0.00006
NM_001164277.2(SLC37A4):c.149-16G>A rs373027415 0.00006
NM_001378454.1(ALMS1):c.11872+7T>A rs763235048 0.00006
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551 0.00006
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978 0.00006
NM_002878.4(RAD51D):c.145-4G>A rs201361465 0.00006
NM_002878.4(RAD51D):c.263+7G>A rs56218020 0.00006
NM_003001.5(SDHC):c.179+10G>A rs532455044 0.00006
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234 0.00006
NM_005359.6(SMAD4):c.667+9T>C rs776523203 0.00006
NM_006231.4(POLE):c.1687-16C>G rs530732187 0.00006
NM_007194.4(CHEK2):c.847-17T>C rs199780411 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987 0.00006
NM_014249.4(NR2E3):c.45A>G (p.Ala15=) rs752130237 0.00006
NM_020975.6(RET):c.1649-4G>A rs369769303 0.00006
NM_020975.6(RET):c.2409C>T (p.Ile803=) rs535051804 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_206933.4(USH2A):c.1143+12C>T rs727505167 0.00006
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770 0.00006
NM_206933.4(USH2A):c.6325+7390C>T rs207461108 0.00006
NM_000038.6(APC):c.532-17A>T rs997606437 0.00005
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188 0.00005
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304 0.00005
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.5005+14A>T rs374337879 0.00005
NM_000059.4(BRCA2):c.7007+18T>A rs377471435 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000070.3(CAPN3):c.2079A>G (p.Thr693=) rs540561728 0.00005
NM_000153.4(GALC):c.195+15G>A rs748140458 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=) rs2229018 0.00005
NM_000249.4(MLH1):c.1128T>C (p.Asp376=) rs267607824 0.00005
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876 0.00005
NM_000287.4(PEX6):c.2730G>A (p.Thr910=) rs774721609 0.00005
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972 0.00005
NM_000455.5(STK11):c.237C>T (p.Ile79=) rs751859508 0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=) rs376969448 0.00005
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000455.5(STK11):c.465-18G>T rs587781177 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_000455.5(STK11):c.678C>T (p.Asn226=) rs748832988 0.00005
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947 0.00005
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_000546.6(TP53):c.782+12C>T rs17881780 0.00005
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=) rs767327888 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001164277.2(SLC37A4):c.985+290T>C rs781943252 0.00005
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=) rs371431256 0.00005
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=) rs201095989 0.00005
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965 0.00005
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=) rs376757358 0.00005
NM_002617.4(PEX10):c.711C>T (p.Tyr237=) rs761005209 0.00005
NM_002691.4(POLD1):c.2717+14C>T rs367945387 0.00005
NM_003640.5(ELP1):c.3223-16C>G rs372907186 0.00005
NM_005562.3(LAMC2):c.503+14G>A rs372097432 0.00005
NM_006231.4(POLE):c.4952+11T>A rs779889181 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_012144.4(DNAI1):c.660C>T (p.Asn220=) rs146015192 0.00005
NM_020975.6(RET):c.337+29G>A rs578158807 0.00005
NM_000018.4(ACADVL):c.1679-34C>T rs779439503 0.00004
NM_000018.4(ACADVL):c.278-39C>T rs202244937 0.00004
NM_000018.4(ACADVL):c.342+15G>A rs777751102 0.00004
NM_000038.6(APC):c.2838A>G (p.Thr946=) rs142835322 0.00004
NM_000038.6(APC):c.3552C>T (p.Ala1184=) rs759407858 0.00004
NM_000038.6(APC):c.4416A>T (p.Val1472=) rs773352404 0.00004
NM_000038.6(APC):c.531+16G>A rs770126046 0.00004
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106 0.00004
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.6633T>C (p.Val2211=) rs80359795 0.00004
NM_000059.4(BRCA2):c.67+19T>C rs587780865 0.00004
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753 0.00004
NM_000059.4(BRCA2):c.8755-19A>G rs398122713 0.00004
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000179.3(MSH6):c.4001+10dup rs730882138 0.00004
NM_000232.5(SGCB):c.429+24G>T rs367761233 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.381-43C>G rs368847278 0.00004
NM_000249.4(MLH1):c.579A>G (p.Ser193=) rs587781038 0.00004
NM_000251.3(MSH2):c.287G>A (p.Arg96His) rs63750002 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000271.5(NPC1):c.1275G>A (p.Ser425=) rs190032589 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000414.4(HSD17B4):c.113-2206T>C rs541081959 0.00004
NM_000455.5(STK11):c.432G>A (p.Pro144=) rs376788924 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.734+11C>T rs773604294 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000455.5(STK11):c.862+23C>T rs200302435 0.00004
NM_000455.5(STK11):c.920+29G>A rs191273506 0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=) rs373710656 0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=) rs775515332 0.00004
NM_000546.6(TP53):c.376-18dup rs756417643 0.00004
NM_000546.6(TP53):c.672+15T>C rs140756213 0.00004
NM_000546.6(TP53):c.993+227A>C rs764562217 0.00004
NM_001048174.2(MUTYH):c.1062C>T (p.Ala354=) rs778193554 0.00004
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=) rs141679570 0.00004
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036 0.00004
NM_001164277.2(SLC37A4):c.1125-41C>T rs782175115 0.00004
NM_001164277.2(SLC37A4):c.382-17C>T rs1369693461 0.00004
NM_001164277.2(SLC37A4):c.626+13C>T rs746096087 0.00004
NM_001164277.2(SLC37A4):c.985+248G>A rs369907198 0.00004
NM_001283009.2(RTEL1):c.2851+52T>C rs370125588 0.00004
NM_001378454.1(ALMS1):c.11547+16T>C rs373935106 0.00004
NM_001378454.1(ALMS1):c.11669-17A>G rs762591261 0.00004
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=) rs377661858 0.00004
NM_001378454.1(ALMS1):c.1432+15G>A rs376610564 0.00004
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=) rs368992526 0.00004
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=) rs374151754 0.00004
NM_001378454.1(ALMS1):c.450+11T>C rs763724672 0.00004
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=) rs190319211 0.00004
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_002691.4(POLD1):c.1383+9G>C rs767098823 0.00004
NM_002691.4(POLD1):c.2007-14G>A rs374710307 0.00004
NM_002691.4(POLD1):c.2718-5C>T rs368965066 0.00004
NM_002878.4(RAD51D):c.145-13G>T rs760867838 0.00004
NM_002878.4(RAD51D):c.145-14G>C rs200470533 0.00004
NM_004168.4(SDHA):c.1432+7G>C rs760526397 0.00004
NM_004168.4(SDHA):c.456+9C>T rs200565489 0.00004
NM_004168.4(SDHA):c.513T>C (p.Arg171=) rs765157205 0.00004
NM_004329.3(BMPR1A):c.1474-9A>G rs372031054 0.00004
NM_004360.4(CDH1):c.-288del rs5030658 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004360.5(CDH1):c.2165-15C>A rs552874184 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_006231.4(POLE):c.1924-6T>C rs755311168 0.00004
NM_006231.4(POLE):c.2174-15C>T rs750771177 0.00004
NM_006231.4(POLE):c.2468+19G>A rs768950827 0.00004
NM_006231.4(POLE):c.3379-18C>T rs1057517632 0.00004
NM_006231.4(POLE):c.4149+12C>G rs566422403 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007294.4(BRCA1):c.135-23C>T rs763633355 0.00004
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=) rs777228325 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.4358-2720G>A rs183331660 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 0.00004
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329 0.00004
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2082A>G (p.Thr694=) rs781440401 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=) rs776990704 0.00004
NM_054012.4(ASS1):c.566+11C>T rs200527708 0.00004
NM_138694.4(PKHD1):c.8173+12C>T rs368093611 0.00004
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092 0.00004
NM_000016.6(ACADM):c.118+18T>A rs755405418 0.00003
NM_000018.4(ACADVL):c.1332+27C>T rs200161683 0.00003
NM_000018.4(ACADVL):c.1434+23G>A rs759991740 0.00003
NM_000018.4(ACADVL):c.1532+11G>A rs372900326 0.00003
NM_000018.4(ACADVL):c.1678+24G>A rs751665756 0.00003
NM_000018.4(ACADVL):c.1751+30C>T rs757837505 0.00003
NM_000018.4(ACADVL):c.1752-23T>C rs368009800 0.00003
NM_000038.6(APC):c.1312+16T>A rs376965806 0.00003
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026 0.00003
NM_000038.6(APC):c.221-16T>C rs1046591128 0.00003
NM_000038.6(APC):c.477C>T (p.Tyr159=) rs863224281 0.00003
NM_000038.6(APC):c.6945A>G (p.Gln2315=) rs786201348 0.00003
NM_000038.6(APC):c.933+16A>G rs1057517599 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.8100A>G (p.Lys2700=) rs778601472 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.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.426-22G>T rs368499005 0.00003
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00003
NM_000059.4(BRCA2):c.632-13T>G rs775947267 0.00003
NM_000059.4(BRCA2):c.632-16A>C rs81002905 0.00003
NM_000059.4(BRCA2):c.6771C>T (p.Pro2257=) rs373696964 0.00003
NM_000059.4(BRCA2):c.7436-14T>G rs81002814 0.00003
NM_000059.4(BRCA2):c.747T>A (p.Ser249=) rs767165913 0.00003
NM_000059.4(BRCA2):c.7596C>T (p.Pro2532=) rs748631472 0.00003
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 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.9237T>C (p.Val3079=) rs80359805 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237 0.00003
NM_000077.5(CDKN2A):c.150+40C>T rs1057517604 0.00003
NM_000077.5(CDKN2A):c.458-541A>G rs938889880 0.00003
NM_000092.5(COL4A4):c.4091-336C>T rs925971110 0.00003
NM_000092.5(COL4A4):c.4091-356_4091-355dup rs1553620826 0.00003
NM_000155.4(GALT):c.1059+24G>A rs111033840 0.00003
NM_000159.4(GCDH):c.636-26C>T rs772762469 0.00003
NM_000179.3(MSH6):c.2319C>T (p.Leu773=) rs63749895 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=) rs747771350 0.00003
NM_000179.3(MSH6):c.393A>C (p.Val131=) rs752488540 0.00003
NM_000179.3(MSH6):c.628-12C>T rs752105994 0.00003
NM_000228.3(LAMB3):c.2137+37G>A rs374527059 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000249.4(MLH1):c.884+15A>G rs372817491 0.00003
NM_000251.3(MSH2):c.1760-16T>G rs768370188 0.00003
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000251.3(MSH2):c.2006-26dup rs781614743 0.00003
NM_000251.3(MSH2):c.211+8C>T rs267607916 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.943-25T>C rs775155213 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631 0.00003
NM_000314.8(PTEN):c.635-16G>A rs750772657 0.00003
NM_000426.4(LAMA2):c.6269-829A>G rs758519410 0.00003
NM_000426.4(LAMA2):c.6702A>T (p.Ala2234=) rs372212378 0.00003
NM_000455.5(STK11):c.1035C>T (p.His345=) rs751619208 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=) rs532889728 0.00003
NM_000455.5(STK11):c.876C>T (p.Tyr292=) rs148928808 0.00003
NM_000492.4(CFTR):c.1680-26T>C rs397508265 0.00003
NM_000546.6(TP53):c.180A>C (p.Pro60=) rs749289195 0.00003
NM_000546.6(TP53):c.30C>T (p.Val10=) rs568171603 0.00003
NM_000551.4(VHL):c.375C>T (p.His125=) rs863224372 0.00003
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=) rs587780752 0.00003
NM_001048174.2(MUTYH):c.914-21T>C rs780013757 0.00003
NM_001164277.2(SLC37A4):c.144T>C (p.Asp48=) rs1310970870 0.00003
NM_001164277.2(SLC37A4):c.381+15A>G rs1057520372 0.00003
NM_001164277.2(SLC37A4):c.630C>T (p.Ser210=) rs1470803048 0.00003
NM_001164277.2(SLC37A4):c.986-18C>T rs374784735 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=) rs760299487 0.00003
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=) rs374328093 0.00003
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293 0.00003
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=) rs199769789 0.00003
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=) rs372692493 0.00003
NM_001378454.1(ALMS1):c.7675-19G>A rs1399037677 0.00003
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=) rs199850691 0.00003
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=) rs372451785 0.00003
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=) rs761010290 0.00003
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144 0.00003
NM_002691.4(POLD1):c.1137+10G>A rs367666867 0.00003
NM_002691.4(POLD1):c.1892+11C>T rs376751542 0.00003
NM_002691.4(POLD1):c.2564+19C>T rs1057522890 0.00003
NM_002691.4(POLD1):c.3121-9C>T rs149742605 0.00003
NM_002691.4(POLD1):c.970+12G>C rs778084767 0.00003
NM_002878.4(RAD51D):c.481-8C>T rs762247126 0.00003
NM_004329.3(BMPR1A):c.198C>T (p.His66=) rs150493865 0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=) rs747266339 0.00003
NM_004329.3(BMPR1A):c.530+12T>C rs976070262 0.00003
NM_004329.3(BMPR1A):c.68-12A>G rs201120747 0.00003
NM_004360.5(CDH1):c.1161C>T (p.Asn387=) rs111266450 0.00003
NM_004360.5(CDH1):c.1173C>T (p.Val391=) rs148080550 0.00003
NM_004937.3(CTNS):c.461+8C>T rs368822078 0.00003
NM_006231.4(POLE):c.1641C>A (p.Leu547=) rs267603387 0.00003
NM_006231.4(POLE):c.1795-14C>T rs369023182 0.00003
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_006231.4(POLE):c.5173+10C>T rs371098994 0.00003
NM_007294.4(BRCA1):c.212+21G>A rs80358147 0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_014249.4(NR2E3):c.450G>A (p.Pro150=) rs746581775 0.00003
NM_020975.6(RET):c.1760-12G>A rs377767392 0.00003
NM_020975.6(RET):c.1879+14G>A rs532810255 0.00003
NM_020975.6(RET):c.2285-4T>G rs376601566 0.00003
NM_020975.6(RET):c.2298G>A (p.Pro766=) rs140658743 0.00003
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys) rs387907483 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_024675.4(PALB2):c.2208C>A (p.Ala736=) rs369113809 0.00003
NM_032043.3(BRIP1):c.312T>G (p.Thr104=) rs769190318 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_058216.3(RAD51C):c.706-13C>G rs747406535 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_152564.5(VPS13B):c.1206+23T>A rs745316537 0.00003
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_174878.3(CLRN1):c.254-2132C>T rs758741442 0.00003
NM_000018.4(ACADVL):c.1678+22C>T rs761650394 0.00002
NM_000018.4(ACADVL):c.1752-32_1752-31del rs758750087 0.00002
NM_000018.4(ACADVL):c.342+14C>T rs567468883 0.00002
NM_000030.3(AGXT):c.942+14T>G rs886055843 0.00002
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000038.6(APC):c.835-20A>G rs777546674 0.00002
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.7515+20A>G rs80124497 0.00002
NM_000059.4(BRCA2):c.1287A>G (p.Leu429=) rs80359782 0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656 0.00002
NM_000059.4(BRCA2):c.183A>G (p.Leu61=) rs776638534 0.00002
NM_000059.4(BRCA2):c.4677T>C (p.Phe1559=) rs786201540 0.00002
NM_000059.4(BRCA2):c.5214T>G (p.Thr1738=) rs864622338 0.00002
NM_000059.4(BRCA2):c.6738A>G (p.Pro2246=) rs760272304 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038 0.00002
NM_000059.4(BRCA2):c.8331+16C>G rs730881595 0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=) rs80359198 0.00002
NM_000059.4(BRCA2):c.9501+4A>G rs81002848 0.00002
NM_000070.3(CAPN3):c.2263+14A>G rs886038225 0.00002
NM_000077.5(CDKN2A):c.150+20C>T rs550846229 0.00002
NM_000092.5(COL4A4):c.4091-330T>C rs774439386 0.00002
NM_000179.3(MSH6):c.2241G>A (p.Leu747=) rs377722465 0.00002
NM_000179.3(MSH6):c.2508C>T (p.Asn836=) rs758170249 0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=) rs730881823 0.00002
NM_000179.3(MSH6):c.4062G>T (p.Leu1354=) rs863224335 0.00002
NM_000231.3(SGCG):c.196-6195C>T rs207473592 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000251.3(MSH2):c.1510+11G>C rs370675562 0.00002
NM_000251.3(MSH2):c.1854A>G (p.Pro618=) rs786203744 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.304G>A (p.Val102Ile) rs193922373 0.00002
NM_000251.3(MSH2):c.366+24A>G rs200890440 0.00002
NM_000251.3(MSH2):c.42G>A (p.Ala14=) rs374396150 0.00002
NM_000251.3(MSH2):c.438T>C (p.Gly146=) rs587779161 0.00002
NM_000251.3(MSH2):c.762T>C (p.Asn254=) rs587779180 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519 0.00002
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=) rs371376404 0.00002
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=) rs398123382 0.00002
NM_000455.5(STK11):c.1109-13G>A rs568152768 0.00002
NM_000455.5(STK11):c.1109-14C>T rs780434041 0.00002
NM_000455.5(STK11):c.828C>T (p.Gly276=) rs200824447 0.00002
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563 0.00002
NM_000546.6(TP53):c.234A>G (p.Ala78=) rs375099397 0.00002
NM_000546.6(TP53):c.249G>A (p.Ala83=) rs55754907 0.00002
NM_000551.4(VHL):c.114C>T (p.Ser38=) rs417164 0.00002
NM_001048174.2(MUTYH):c.441T>C (p.Ala147=) rs786201352 0.00002
NM_001127511.3(APC):c.48T>C (p.Ser16=) rs980704771 0.00002
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=) rs772521748 0.00002
NM_001164277.2(SLC37A4):c.1124+18G>C rs1555190434 0.00002
NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=) rs745721191 0.00002
NM_001164277.2(SLC37A4):c.785+12A>G rs976964945 0.00002
NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=) rs771511314 0.00002
NM_001370259.2(MEN1):c.784-16C>T rs754257177 0.00002
NM_001378454.1(ALMS1):c.10214-19G>A rs763103896 0.00002
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=) rs374909171 0.00002
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=) rs750372739 0.00002
NM_001378454.1(ALMS1):c.1237+8C>A rs771449454 0.00002
NM_001378454.1(ALMS1):c.1238-20A>G rs771811655 0.00002
NM_001378454.1(ALMS1):c.1338+18G>A rs369695595 0.00002
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=) rs376517753 0.00002
NM_001378454.1(ALMS1):c.3120T>A (p.Thr1040=) rs372764773 0.00002
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=) rs770845249 0.00002
NM_001378454.1(ALMS1):c.450+7C>A rs775200355 0.00002
NM_001378454.1(ALMS1):c.451-20T>C rs762592063 0.00002
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=) rs535259433 0.00002
NM_001378454.1(ALMS1):c.764+19A>G rs1035974697 0.00002
NM_001378454.1(ALMS1):c.7674+9G>T rs1046548369 0.00002
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=) rs373374154 0.00002
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=) rs368408369 0.00002
NM_001378454.1(ALMS1):c.9907+7T>G rs375870610 0.00002
NM_001384140.1(PCDH15):c.4368-3204C>T rs375657329 0.00002
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=) rs876657498 0.00002
NM_002435.3(MPI):c.345+26G>A rs144839533 0.00002
NM_002485.5(NBN):c.1124+37C>G rs577575764 0.00002
NM_002485.5(NBN):c.2184+8G>C rs730881842 0.00002
NM_002691.4(POLD1):c.1776-18C>T rs775669198 0.00002
NM_002691.4(POLD1):c.2155-6C>T rs112481714 0.00002
NM_002691.4(POLD1):c.2250+16C>T rs768471202 0.00002
NM_002691.4(POLD1):c.2433C>T (p.Gly811=) rs1051057675 0.00002
NM_002878.4(RAD51D):c.263+1612del rs750282687 0.00002
NM_003000.3(SDHB):c.765+13G>A rs115561881 0.00002
NM_004360.5(CDH1):c.1488C>T (p.Ser496=) rs751346548 0.00002
NM_004360.5(CDH1):c.2439+14G>A rs752439219 0.00002
NM_004360.5(CDH1):c.388-4T>C rs750722169 0.00002
NM_004360.5(CDH1):c.510A>G (p.Pro170=) rs774962542 0.00002
NM_004360.5(CDH1):c.688-14C>T rs189969617 0.00002
NM_005359.6(SMAD4):c.1140-11T>A rs1224777335 0.00002
NM_006231.4(POLE):c.3379-17G>A rs907214942 0.00002
NM_006231.4(POLE):c.6532-11G>C rs372829291 0.00002
NM_006231.4(POLE):c.909+20G>A rs750593090 0.00002
NM_007194.4(CHEK2):c.1462-20T>C rs747767986 0.00002
NM_007194.4(CHEK2):c.793-17T>C rs778511901 0.00002
NM_007294.4(BRCA1):c.-20+57G>A rs556032779 0.00002
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu) rs41286290 0.00002
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 0.00002
NM_007294.4(BRCA1):c.4675+11A>G rs750095985 0.00002
NM_007294.4(BRCA1):c.4676-7C>T rs80358005 0.00002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) rs80357341 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.5074+23A>G rs778115859 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=) rs759867616 0.00002
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=) rs754152768 0.00002
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile) rs80357103 0.00002
NM_020975.6(RET):c.1095G>A (p.Ser365=) rs201992974 0.00002
NM_020975.6(RET):c.1188G>A (p.Ser396=) rs758510657 0.00002
NM_020975.6(RET):c.1264-4C>T rs587780806 0.00002
NM_020975.6(RET):c.2226G>A (p.Thr742=) rs762876946 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_024301.5(FKRP):c.483C>T (p.Ala161=) rs797045576 0.00002
NM_024675.4(PALB2):c.1839G>A (p.Gln613=) rs199682414 0.00002
NM_024675.4(PALB2):c.807T>C (p.Gly269=) rs180177093 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_058216.3(RAD51C):c.837+14A>G rs1057517644 0.00002
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064 0.00002
NM_152564.5(VPS13B):c.8445+50del rs761647040 0.00002
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876 0.00002
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) rs760725818 0.00002
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532 0.00002
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) rs727505165 0.00002
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185 0.00002
NM_000018.4(ACADVL):c.1434+38G>C rs763704056 0.00001
NM_000018.4(ACADVL):c.1752-33C>T rs760851448 0.00001
NM_000018.4(ACADVL):c.204+15G>A rs1404625751 0.00001
NM_000018.4(ACADVL):c.342+16G>C rs536497611 0.00001
NM_000018.4(ACADVL):c.343-23G>A rs781064781 0.00001
NM_000018.4(ACADVL):c.63-18A>G rs1481782237 0.00001
NM_000023.4(SGCA):c.956+21C>T rs367690233 0.00001
NM_000038.6(APC):c.1409-17T>G rs764042245 0.00001
NM_000038.6(APC):c.1744-14C>A rs761403505 0.00001
NM_000038.6(APC):c.228C>T (p.Asn76=) rs766325173 0.00001
NM_000038.6(APC):c.3555A>G (p.Thr1185=) rs786201125 0.00001
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994 0.00001
NM_000038.6(APC):c.4005C>T (p.Ser1335=) rs751729992 0.00001
NM_000038.6(APC):c.422+19G>C rs767046355 0.00001
NM_000038.6(APC):c.4311A>G (p.Lys1437=) rs371784771 0.00001
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690 0.00001
NM_000038.6(APC):c.597G>A (p.Ala199=) rs587780601 0.00001
NM_000038.6(APC):c.646-20G>A rs1057517635 0.00001
NM_000038.6(APC):c.7533C>T (p.Leu2511=) rs1057522957 0.00001
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128 0.00001
NM_000038.6(APC):c.934-21C>A rs754906600 0.00001
NM_000038.6(APC):c.993G>A (p.Ser331=) rs148343173 0.00001
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888 0.00001
NM_000051.4(ATM):c.192A>G (p.Leu64=) rs587780616 0.00001
NM_000051.4(ATM):c.2639-7T>C rs912886321 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 0.00001
NM_000051.4(ATM):c.4236+8T>C rs765636697 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.6007-10A>G rs373395916 0.00001
NM_000051.4(ATM):c.7131T>C (p.Asp2377=) rs373309822 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.1197C>G (p.Thr399=) rs377308954 0.00001
NM_000059.4(BRCA2):c.1218C>G (p.Ala406=) rs276174807 0.00001
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439 0.00001
NM_000059.4(BRCA2):c.171C>T (p.Tyr57=) rs201523522 0.00001
NM_000059.4(BRCA2):c.2004G>A (p.Arg668=) rs755049218 0.00001
NM_000059.4(BRCA2):c.2133C>T (p.Cys711=) rs535547513 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.3675A>G (p.Thr1225=) rs276174835 0.00001
NM_000059.4(BRCA2):c.3717A>G (p.Lys1239=) rs141196976 0.00001
NM_000059.4(BRCA2):c.378A>G (p.Gln126=) rs786201593 0.00001
NM_000059.4(BRCA2):c.4179G>A (p.Ala1393=) rs770531115 0.00001
NM_000059.4(BRCA2):c.4242G>T (p.Thr1414=) rs750495335 0.00001
NM_000059.4(BRCA2):c.4698C>T (p.Thr1566=) rs750813972 0.00001
NM_000059.4(BRCA2):c.4699C>T (p.Leu1567=) rs146514381 0.00001
NM_000059.4(BRCA2):c.4858T>C (p.Leu1620=) rs528771743 0.00001
NM_000059.4(BRCA2):c.5217T>C (p.Tyr1739=) rs80358746 0.00001
NM_000059.4(BRCA2):c.53G>A (p.Arg18His) rs80358762 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=) rs587780658 0.00001
NM_000059.4(BRCA2):c.68-17del rs752172011 0.00001
NM_000059.4(BRCA2):c.682-13A>G rs81002888 0.00001
NM_000059.4(BRCA2):c.6842-19A>G rs81002865 0.00001
NM_000059.4(BRCA2):c.6906A>G (p.Lys2302=) rs786201621 0.00001
NM_000059.4(BRCA2):c.7008-25C>T rs751803680 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000059.4(BRCA2):c.7805+9T>A rs768471151 0.00001
NM_000059.4(BRCA2):c.78A>G (p.Pro26=) rs772146565 0.00001
NM_000059.4(BRCA2):c.7976+24G>A rs189855685 0.00001
NM_000059.4(BRCA2):c.8331+14C>T rs1287378096 0.00001
NM_000059.4(BRCA2):c.8488-19G>A rs398122607 0.00001
NM_000059.4(BRCA2):c.8667A>G (p.Ala2889=) rs786203480 0.00001
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His) rs80359141 0.00001
NM_000059.4(BRCA2):c.918T>C (p.Asp306=) rs184408918 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000059.4(BRCA2):c.9837A>G (p.Leu3279=) rs730881598 0.00001
NM_000059.4(BRCA2):c.9864A>G (p.Thr3288=) rs778401681 0.00001
NM_000059.4(BRCA2):c.9945A>G (p.Lys3315=) rs752308575 0.00001
NM_000075.4(CDK4):c.355-12C>T rs1004281478 0.00001
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000092.5(COL4A4):c.3978A>G (p.Pro1326=) rs780675797 0.00001
NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=) rs750748339 0.00001
NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=) rs565940301 0.00001
NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041 0.00001
NM_000092.5(COL4A4):c.4081+7T>C rs779775976 0.00001
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820 0.00001
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664 0.00001
NM_000152.5(GAA):c.2040+16C>T rs573522544 0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866 0.00001
NM_000179.3(MSH6):c.1170T>C (p.Asp390=) rs55882234 0.00001
NM_000179.3(MSH6):c.1209C>G (p.Leu403=) rs748603803 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000179.3(MSH6):c.1677C>T (p.Cys559=) rs63749893 0.00001
NM_000179.3(MSH6):c.1740G>A (p.Ser580=) rs762089407 0.00001
NM_000179.3(MSH6):c.1776A>T (p.Val592=) rs56132616 0.00001
NM_000179.3(MSH6):c.2035T>C (p.Leu679=) rs757741943 0.00001
NM_000179.3(MSH6):c.2154C>T (p.Ser718=) rs771662801 0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=) rs267608071 0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=) rs367758473 0.00001
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=) rs786201843 0.00001
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=) rs199643502 0.00001
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=) rs371568610 0.00001
NM_000179.3(MSH6):c.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000179.3(MSH6):c.363C>T (p.Arg121=) rs587779276 0.00001
NM_000179.3(MSH6):c.3936T>C (p.Val1312=) rs61753796 0.00001
NM_000179.3(MSH6):c.458-17A>G rs554847828 0.00001
NM_000179.3(MSH6):c.87C>G (p.Arg29=) rs778354962 0.00001
NM_000228.3(LAMB3):c.628+42G>A rs587776812 0.00001
NM_000235.4(LIPA):c.1188G>A (p.Arg396=) rs750001661 0.00001
NM_000249.4(MLH1):c.1039-5T>C rs587782626 0.00001
NM_000249.4(MLH1):c.1731+14C>G rs745643356 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000249.4(MLH1):c.1896+7C>T rs863224339 0.00001
NM_000249.4(MLH1):c.207+26del rs1057517621 0.00001
NM_000249.4(MLH1):c.2172G>A (p.Leu724=) rs780045031 0.00001
NM_000249.4(MLH1):c.546-18T>C rs1057517622 0.00001
NM_000249.4(MLH1):c.636C>T (p.Thr212=) rs138735345 0.00001
NM_000249.4(MLH1):c.791-14T>C rs751254837 0.00001
NM_000249.4(MLH1):c.884+10C>T rs864622424 0.00001
NM_000249.4(MLH1):c.884+10del rs878853793 0.00001
NM_000251.3(MSH2):c.1077-15G>T rs753277524 0.00001
NM_000251.3(MSH2):c.115C>A (p.Arg39=) rs786202334 0.00001
NM_000251.3(MSH2):c.1311G>T (p.Val437=) rs730881781 0.00001
NM_000251.3(MSH2):c.1760-10T>A rs767536391 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.2634+12T>C rs372907481 0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=) rs63751065 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437 0.00001
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297 0.00001
NM_000260.4(MYO7A):c.5637-173C>T rs207472020 0.00001
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329 0.00001
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066 0.00001
NM_000277.3(PAH):c.169-42T>A rs281865459 0.00001
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825 0.00001
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.210-17T>C rs750987148 0.00001
NM_000314.8(PTEN):c.210-26A>G rs776849737 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_000352.6(ABCC8):c.2475+19G>A rs373894772 0.00001
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=) rs778708979 0.00001
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=) rs398123369 0.00001
NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=) rs138702650 0.00001
NM_000426.4(LAMA2):c.6269-820A>G rs544696321 0.00001
NM_000426.4(LAMA2):c.6269-855A>T rs1554297879 0.00001
NM_000426.4(LAMA2):c.6269-856C>G rs763589558 0.00001
NM_000455.5(STK11):c.1137C>T (p.His379=) rs786201505 0.00001
NM_000455.5(STK11):c.318G>A (p.Arg106=) rs777784520 0.00001
NM_000455.5(STK11):c.464+8C>T rs863224669 0.00001
NM_000455.5(STK11):c.465-7C>T rs864622317 0.00001
NM_000455.5(STK11):c.594C>T (p.Ala198=) rs772940660 0.00001
NM_000455.5(STK11):c.621C>T (p.Asp207=) rs569380138 0.00001
NM_000455.5(STK11):c.863-6C>T rs757276643 0.00001
NM_000455.5(STK11):c.957A>G (p.Pro319=) rs755126393 0.00001
NM_000465.4(BARD1):c.1315-21C>A rs747393586 0.00001
NM_000478.6(ALPL):c.147C>T (p.Asn49=) rs539884496 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038 0.00001
NM_000492.4(CFTR):c.1117-31A>G rs1554381590 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.489+25A>G rs531830892 0.00001
NM_000520.6(HEXA):c.1074-86G>A rs1050913691 0.00001
NM_000520.6(HEXA):c.1421+13G>A rs375201437 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.705+13G>A rs776790763 0.00001
NM_000546.6(TP53):c.1023C>T (p.Phe341=) rs864622369 0.00001
NM_000546.6(TP53):c.222C>T (p.Ala74=) rs786201577 0.00001
NM_000546.6(TP53):c.408A>G (p.Gln136=) rs758781593 0.00001
NM_000546.6(TP53):c.74+9A>C rs1057517593 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000546.6(TP53):c.97-15T>C rs1555526843 0.00001
NM_000546.6(TP53):c.993+290T>C rs1642789 0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=) rs781063331 0.00001
NM_000642.3(AGL):c.83-17_83-16del rs751326594 0.00001
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328 0.00001
NM_001039958.2(MESP2):c.885G>C (p.Thr295=) rs761196555 0.00001
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=) rs199575659 0.00001
NM_001048174.2(MUTYH):c.1311A>C (p.Pro437=) rs768239149 0.00001
NM_001048174.2(MUTYH):c.138G>A (p.Glu46=) rs376861118 0.00001
NM_001048174.2(MUTYH):c.288C>T (p.Asp96=) rs730881836 0.00001
NM_001048174.2(MUTYH):c.305-7C>A rs863224698 0.00001
NM_001048174.2(MUTYH):c.492+20G>A rs776504435 0.00001
NM_001048174.2(MUTYH):c.798C>T (p.Arg266=) rs587780750 0.00001
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=) rs778782508 0.00001
NM_001048174.2(MUTYH):c.914-8G>A rs757672024 0.00001
NM_001127511.3(APC):c.122C>T (p.Pro41Leu) rs1057517584 0.00001
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=) rs398123775 0.00001
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368 0.00001
NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=) rs946752823 0.00001
NM_001164277.2(SLC37A4):c.1124+49C>T rs782799385 0.00001
NM_001164277.2(SLC37A4):c.1124+8T>C rs377506675 0.00001
NM_001164277.2(SLC37A4):c.1125-29G>A rs1262126192 0.00001
NM_001164277.2(SLC37A4):c.1125-44G>A rs1256742179 0.00001
NM_001164277.2(SLC37A4):c.1125-53G>A rs1555190416 0.00001
NM_001164277.2(SLC37A4):c.149-23C>T rs1283313486 0.00001
NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=) rs782358834 0.00001
NM_001164277.2(SLC37A4):c.382-16G>A rs778665353 0.00001
NM_001164277.2(SLC37A4):c.626+12C>T rs549251533 0.00001
NM_001164277.2(SLC37A4):c.785+13T>C rs1351380633 0.00001
NM_001164277.2(SLC37A4):c.785+16G>A rs1283553362 0.00001
NM_001164277.2(SLC37A4):c.849G>A (p.Leu283=) rs369860234 0.00001
NM_001164277.2(SLC37A4):c.871+7G>A rs782177602 0.00001
NM_001164277.2(SLC37A4):c.872-16G>A rs766656496 0.00001
NM_001164277.2(SLC37A4):c.96C>T (p.Ser32=) rs782234184 0.00001
NM_001164277.2(SLC37A4):c.985+195C>T rs1189232257 0.00001
NM_001164277.2(SLC37A4):c.985+217C>T rs1213577149 0.00001
NM_001164277.2(SLC37A4):c.985+226C>T rs959584744 0.00001
NM_001164277.2(SLC37A4):c.985+245C>T rs1348642148 0.00001
NM_001164277.2(SLC37A4):c.985+246G>A rs1314659619 0.00001
NM_001164277.2(SLC37A4):c.985+270C>T rs782800127 0.00001
NM_001164277.2(SLC37A4):c.985+276G>A rs1555190629 0.00001
NM_001164277.2(SLC37A4):c.985+283A>G rs1009983005 0.00001
NM_001164277.2(SLC37A4):c.985+295G>A rs1208499204 0.00001
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) rs763193315 0.00001
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=) rs797045923 0.00001
NM_001283009.2(RTEL1):c.3801C>T (p.Ala1267=) rs368388044 0.00001
NM_001365088.1(SLC12A6):c.271+17732A>G rs781478530 0.00001
NM_001378454.1(ALMS1):c.10078+10T>C rs752454047 0.00001
NM_001378454.1(ALMS1):c.10213+11T>C rs1553416883 0.00001
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=) rs373397289 0.00001
NM_001378454.1(ALMS1):c.11547+13A>G rs753246208 0.00001
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=) rs368655814 0.00001
NM_001378454.1(ALMS1):c.12114+12T>C rs377393930 0.00001
NM_001378454.1(ALMS1):c.12298+7C>T rs1252100215 0.00001
NM_001378454.1(ALMS1):c.12363-14G>A rs377374398 0.00001
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=) rs374020124 0.00001
NM_001378454.1(ALMS1):c.12462+10T>C rs748315200 0.00001
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132 0.00001
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=) rs372610345 0.00001
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=) rs377037998 0.00001
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=) rs1327400351 0.00001
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850 0.00001
NM_001378454.1(ALMS1):c.324+10G>C rs778690416 0.00001
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=) rs780391682 0.00001
NM_001378454.1(ALMS1):c.451-19T>C rs768590349 0.00001
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=) rs371708421 0.00001
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=) rs374143515 0.00001
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=) rs372017680 0.00001
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=) rs373438786 0.00001
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=) rs189124891 0.00001
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=) rs370287018 0.00001
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=) rs1483677896 0.00001
NM_001378454.1(ALMS1):c.764+14T>C rs1553400457 0.00001
NM_001378454.1(ALMS1):c.765-16A>G rs765256601 0.00001
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=) rs370740871 0.00001
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=) rs757139660 0.00001
NM_001378454.1(ALMS1):c.9907+14A>G rs1402624178 0.00001
NM_001378454.1(ALMS1):c.9907+17A>C rs772675597 0.00001
NM_001384140.1(PCDH15):c.3501+13A>G rs727503365 0.00001
NM_001384140.1(PCDH15):c.4368-3207_4368-3204del rs1554821194 0.00001
NM_001875.5(CPS1):c.4102-563G>A rs207462825 0.00001
NM_002485.5(NBN):c.37+7G>A rs372850559 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00001
NM_002485.5(NBN):c.483A>G (p.Thr161=) rs758276775 0.00001
NM_002691.4(POLD1):c.1686+11G>A rs534413213 0.00001
NM_002691.4(POLD1):c.1776-19G>A rs772329761 0.00001
NM_002691.4(POLD1):c.2007-15C>T rs769431445 0.00001
NM_002691.4(POLD1):c.2251-4G>A rs768364989 0.00001
NM_002691.4(POLD1):c.2565-13C>T rs559638270 0.00001
NM_002691.4(POLD1):c.2821-4G>A rs369042179 0.00001
NM_002691.4(POLD1):c.3068-13C>T rs575387524 0.00001
NM_002878.4(RAD51D):c.198G>T (p.Val66=) rs200810304 0.00001
NM_002878.4(RAD51D):c.739-10T>C rs199998187 0.00001
NM_003640.5(ELP1):c.1542C>T (p.Phe514=) rs267602078 0.00001
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554 0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149 0.00001
NM_003640.5(ELP1):c.3931+14C>G rs555520875 0.00001
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407 0.00001
NM_004360.5(CDH1):c.1009-14C>T rs368293695 0.00001
NM_004360.5(CDH1):c.1138-15C>G rs752733398 0.00001
NM_004360.5(CDH1):c.1266A>G (p.Gln422=) rs776805501 0.00001
NM_004360.5(CDH1):c.1500C>T (p.Gly500=) rs781317341 0.00001
NM_004360.5(CDH1):c.2440-6del rs745901278 0.00001
NM_004360.5(CDH1):c.582C>T (p.Gly194=) rs786202924 0.00001
NM_004360.5(CDH1):c.867G>A (p.Ala289=) rs754143182 0.00001
NM_004646.4(NPHS1):c.2262G>A (p.Gly754=) rs267605438 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.249+9T>C rs770523387 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005732.4(RAD50):c.1052-16del rs757412385 0.00001
NM_005732.4(RAD50):c.2923-7T>C rs1329253830 0.00001
NM_006231.4(POLE):c.1360-20C>G rs781212006 0.00001
NM_006231.4(POLE):c.2707-9G>A rs1057521516 0.00001
NM_006231.4(POLE):c.3061-12G>C rs779496994 0.00001
NM_006231.4(POLE):c.3378+15C>T rs574954983 0.00001
NM_006231.4(POLE):c.4150-13G>A rs780409701 0.00001
NM_006231.4(POLE):c.423+20T>C rs201628896 0.00001
NM_006231.4(POLE):c.5174-17G>A rs201254290 0.00001
NM_006231.4(POLE):c.5379-5T>C rs761910924 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.593-9C>T rs1057517597 0.00001
NM_007194.4(CHEK2):c.908+18T>A rs755416802 0.00001
NM_007294.4(BRCA1):c.-20+55G>A rs772215665 0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323 0.00001
NM_007294.4(BRCA1):c.1704T>G (p.Pro568=) rs587780795 0.00001
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=) rs756211343 0.00001
NM_007294.4(BRCA1):c.1998A>G (p.Leu666=) rs864622452 0.00001
NM_007294.4(BRCA1):c.212+4T>C rs398122652 0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=) rs587782608 0.00001
NM_007294.4(BRCA1):c.2931A>G (p.Pro977=) rs273899691 0.00001
NM_007294.4(BRCA1):c.301+10G>A rs80358001 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4185+9C>T rs80358034 0.00001
NM_007294.4(BRCA1):c.4186-19C>T rs80358016 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840 0.00001
NM_007294.4(BRCA1):c.4358-2715C>A rs746972533 0.00001
NM_007294.4(BRCA1):c.4358-2735A>G rs1057517571 0.00001
NM_007294.4(BRCA1):c.4422T>C (p.Ala1474=) rs756281673 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5074+14C>T rs370299792 0.00001
NM_007294.4(BRCA1):c.5075-9A>T rs80358059 0.00001
NM_007294.4(BRCA1):c.5152+10A>G rs80358114 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=) rs730881456 0.00001
NM_007294.4(BRCA1):c.5467+22G>C rs779046757 0.00001
NM_007294.4(BRCA1):c.548-18T>G rs397507251 0.00001
NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=) rs786201502 0.00001
NM_007294.4(BRCA1):c.80+7C>T rs80358098 0.00001
NM_007294.4(BRCA1):c.825C>T (p.Gly275=) rs397509328 0.00001
NM_014249.4(NR2E3):c.183C>T (p.Ile61=) rs771404428 0.00001
NM_014249.4(NR2E3):c.350-31C>T rs1322109793 0.00001
NM_014249.4(NR2E3):c.747+10G>A rs780825147 0.00001
NM_014249.4(NR2E3):c.858C>T (p.Ala286=) rs566024312 0.00001
NM_020975.6(RET):c.1648+24G>A rs1057517640 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_020975.6(RET):c.2802-4G>T rs878855061 0.00001
NM_020975.6(RET):c.3057G>A (p.Ala1019=) rs369579749 0.00001
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met) rs387907484 0.00001
NM_022042.4(SLC26A1):c.189C>A (p.Tyr63Ter) rs941971930 0.00001
NM_022042.4(SLC26A1):c.1903C>T (p.Arg635Ter) rs1162410484 0.00001
NM_022042.4(SLC26A1):c.310_311del (p.Thr104fs) rs758100654 0.00001
NM_022042.4(SLC26A1):c.331_345dup (p.Ile111_Met115dup) rs778682733 0.00001
NM_022042.4(SLC26A1):c.395T>C (p.Met132Thr) rs760075470 0.00001
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser) rs387907486 0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00001
NM_024675.4(PALB2):c.1662A>G (p.Glu554=) rs786202692 0.00001
NM_024675.4(PALB2):c.1685-14T>A rs780772404 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2478C>T (p.Asn826=) rs786201885 0.00001
NM_024675.4(PALB2):c.2508C>G (p.Val836=) rs786203603 0.00001
NM_024675.4(PALB2):c.2748+13C>G rs771355581 0.00001
NM_024675.4(PALB2):c.2859T>C (p.Asp953=) rs515726101 0.00001
NM_024675.4(PALB2):c.3201+20G>T rs774029323 0.00001
NM_024675.4(PALB2):c.3282G>A (p.Val1094=) rs747861082 0.00001
NM_024675.4(PALB2):c.3351-10A>G rs1057517611 0.00001
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=) rs373783514 0.00001
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=) rs372686500 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_024675.4(PALB2):c.660T>C (p.Ser220=) rs571762192 0.00001
NM_024675.4(PALB2):c.84C>T (p.Tyr28=) rs761533286 0.00001
NM_024675.4(PALB2):c.993A>G (p.Glu331=) rs760362870 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1795-9T>G rs777006706 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 0.00001
NM_058195.4(CDKN2A):c.193+7A>G rs770519197 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.234A>G (p.Thr78=) rs730881929 0.00001
NM_058216.3(RAD51C):c.905-7C>T rs757624360 0.00001
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056 0.00001
NM_138694.4(PKHD1):c.1545C>T (p.Phe515=) rs267601071 0.00001
NM_138694.4(PKHD1):c.6996+9T>A rs878855203 0.00001
NM_152564.5(VPS13B):c.4224+6A>G rs1173901763 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_153676.4(USH1C):c.1531-11A>G rs397517872 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882 0.00001
NM_174878.3(CLRN1):c.254-2057T>C rs778574679 0.00001
NM_174878.3(CLRN1):c.254-2082T>G rs963890618 0.00001
NM_174878.3(CLRN1):c.254-2111del rs1211060908 0.00001
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967 0.00001
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992 0.00001
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995 0.00001
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) rs762610249 0.00001
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) rs397518028 0.00001
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274 0.00001
NM_000016.6(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000018.4(ACADVL):c.1270-38A>G rs1555528742
NM_000018.4(ACADVL):c.1333-25T>C rs770876053
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1434+24G>A rs1555528806
NM_000018.4(ACADVL):c.1434+27G>A rs1271483942
NM_000018.4(ACADVL):c.1532+7T>C rs534469222
NM_000018.4(ACADVL):c.1606-28G>A rs773931227
NM_000018.4(ACADVL):c.1606-36G>A rs890862631
NM_000018.4(ACADVL):c.1606-42C>G rs372357967
NM_000018.4(ACADVL):c.1606-42C>T rs372357967
NM_000018.4(ACADVL):c.1678+27C>A rs759729168
NM_000018.4(ACADVL):c.204+31dup rs1555527700
NM_000018.4(ACADVL):c.277+27del rs775298132
NM_000018.4(ACADVL):c.62+10del rs1251002707
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000038.6(APC):c.1744-14_1744-13del rs1554083086
NM_000038.6(APC):c.1958+27del rs1402242990
NM_000038.6(APC):c.2196T>C (p.Asn732=) rs781693283
NM_000038.6(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000038.6(APC):c.3612A>G (p.Gln1204=) rs864622196
NM_000038.6(APC):c.423-28G>T rs570467572
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.532-939G>A rs551489857
NM_000038.6(APC):c.532-939G>T rs551489857
NM_000038.6(APC):c.6474C>A (p.Pro2158=) rs772027192
NM_000038.6(APC):c.835-15G>A rs1057521022
NM_000038.6(APC):c.933+19C>A rs778599778
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2839-18dup rs730881287
NM_000051.4(ATM):c.4776+23_4776+25del rs770860526
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5497-9A>G rs878853524
NM_000051.4(ATM):c.5918+16A>G rs3092911
NM_000051.4(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.4(ATM):c.8987+10A>G rs1060504308
NM_000053.3(ATP7B):c.-122_-118dup rs1555304635
NM_000053.3(ATP7B):c.-127CG[2][1] rs1555304648
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000059.4(BRCA2):c.10221T>C (p.Asn3407=) rs786203441
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.3612T>C (p.Ala1204=) rs863224305
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.4(BRCA2):c.4110C>A (p.Gly1370=) rs758430181
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=) rs206075
NM_000059.4(BRCA2):c.475+14C>T rs55698822
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.4(BRCA2):c.517-12C>A rs398122795
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.67+16A>T rs529148674
NM_000059.4(BRCA2):c.67+19del rs1555280125
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.681+8_681+11del rs1555281365
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=) rs276174888
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.7224A>G (p.Pro2408=) rs276174891
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly) rs80358953
NM_000059.4(BRCA2):c.7398A>G (p.Val2466=) rs863224311
NM_000059.4(BRCA2):c.7436-10T>C rs398122582
NM_000059.4(BRCA2):c.7506C>T (p.Arg2502=) rs140693106
NM_000059.4(BRCA2):c.794-17G>A rs750013303
NM_000059.4(BRCA2):c.8331+15A>G rs550087774
NM_000059.4(BRCA2):c.8352G>A (p.Arg2784=) rs747664806
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.4(BRCA2):c.8953+16del rs1555288414
NM_000059.4(BRCA2):c.9117+9C>T rs81002869
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000070.3(CAPN3):c.1914+13G>C rs769337232
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000077.5(CDKN2A):c.150+104_150+105del rs1057517608
NM_000077.5(CDKN2A):c.150+1104C>T rs756102261
NM_000077.5(CDKN2A):c.150+170dup rs753316964
NM_000077.5(CDKN2A):c.150+193G>A rs1057517587
NM_000077.5(CDKN2A):c.150+71_150+76del rs753508262
NM_000077.5(CDKN2A):c.458-465G>C rs563204204
NM_000091.5(COL4A3):c.325-18G>T rs777117192
NM_000092.5(COL4A4):c.4081+15T>C rs1356475870
NM_000092.5(COL4A4):c.4081+22A>C rs1553623967
NM_000092.5(COL4A4):c.4081+22A>G rs1553623967
NM_000092.5(COL4A4):c.4091-323A>G rs774221440
NM_000092.5(COL4A4):c.4091-346A>G rs753906137
NM_000092.5(COL4A4):c.4091-348T>C rs1553620812
NM_000092.5(COL4A4):c.4091-349G>A rs1434118080
NM_000110.4(DPYD):c.45C>A (p.Ile15=) rs267598790
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000128.4(F11):c.1304+25_1304+28del rs778294619
NM_000136.3(FANCC):c.1329+181_1329+183del rs587778328
NM_000136.3(FANCC):c.1329+246del rs542091036
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=) rs1555560103
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC rs3071247
NM_000153.4(GALC):c.120C>A (p.Gly40=) rs532800656
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000179.3(MSH6):c.1347G>A (p.Leu449=) rs786201760
NM_000179.3(MSH6):c.1560T>C (p.Gly520=) rs762396230
NM_000179.3(MSH6):c.2187C>T (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2194C>A (p.Arg732=) rs63751127
NM_000179.3(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.3(MSH6):c.255C>A (p.Pro85=) rs587779242
NM_000179.3(MSH6):c.260+15del rs1553408495
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.3(MSH6):c.3173-12C>T rs1057517629
NM_000179.3(MSH6):c.3173-18T>C rs189672273
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3261C>T (p.Pro1087=) rs370226185
NM_000179.3(MSH6):c.3556+32_3556+35del rs780754745
NM_000179.3(MSH6):c.3556+36_3556+39del rs55684722
NM_000179.3(MSH6):c.3647-11dup rs774223571
NM_000179.3(MSH6):c.3647-6T>C rs182871847
NM_000179.3(MSH6):c.3792A>C (p.Leu1264=) rs786202051
NM_000179.3(MSH6):c.3802-8T>G rs864622195
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=) rs2229018
NM_000179.3(MSH6):c.4001+27TAAC[3] rs267608136
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000179.3(MSH6):c.4002-11_4002-10delinsA rs1553333946
NM_000203.5(IDUA):c.1083G>A (p.Ala361=) rs1553917295
NM_000203.5(IDUA):c.1161C>T (p.Leu387=) rs1553917312
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.4(MLH1):c.1039-4A>G rs368618417
NM_000249.4(MLH1):c.1210C>T (p.Leu404=) rs1057517538
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg) rs63750449
NM_000249.4(MLH1):c.18G>A (p.Gly6=) rs786202312
NM_000249.4(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.4(MLH1):c.2088C>G (p.Thr696=) rs1060504015
NM_000249.4(MLH1):c.2104-22T>C rs267607890
NM_000249.4(MLH1):c.307-10T>C rs572853043
NM_000249.4(MLH1):c.589-24T>C rs1057517607
NM_000249.4(MLH1):c.677+7C>T rs556224377
NM_000249.4(MLH1):c.705T>C (p.Asp235=) rs876658869
NM_000249.4(MLH1):c.790+17dup rs757064565
NM_000249.4(MLH1):c.885-8C>T rs762836160
NM_000249.4(MLH1):c.927C>T (p.Pro309=) rs63749896
NM_000251.3(MSH2):c.1076+23C>G rs377417056
NM_000251.3(MSH2):c.108T>C (p.Leu36=) rs876659034
NM_000251.3(MSH2):c.1276+10G>A rs374061707
NM_000251.3(MSH2):c.1661+17T>G rs377461923
NM_000251.3(MSH2):c.1661+25del rs1553366691
NM_000251.3(MSH2):c.1662-18T>C rs376235435
NM_000251.3(MSH2):c.1759+16C>G rs1057517573
NM_000251.3(MSH2):c.1884A>T (p.Gly628=) rs786202663
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.2458+12T>C rs1553369841
NM_000251.3(MSH2):c.366+25C>T rs764158568
NM_000251.3(MSH2):c.606C>T (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.6G>T (p.Ala2=) rs368270856
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000263.4(NAGLU):c.531+46_531+75del rs1555621618
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000288.4(PEX7):c.130+32_130+51del rs1554328334
NM_000303.3(PMM2):c.640-25_640-22dup rs1555453228
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.1026+38dup rs767896771
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.210-26A>T rs776849737
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.6(SGCD):c.383-35_383-34insA rs1554119750
NM_000337.6(SGCD):c.383-47CTCTCTC[4] rs780744816
NM_000352.6(ABCC8):c.2256-16del rs774508952
NM_000360.4(TH):c.90+26G>A rs191356744
NM_000370.3(TTPA):c.663+10_663+11insAC rs757003890
NM_000382.3(ALDH3A2):c.1443+1222del
NM_000383.4(AIRE):c.880-451G>A rs267606153
NM_000391.4(TPP1):c.1267-56_1267-37del rs1554901606
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000414.4(HSD17B4):c.58+127_58+129del rs1394106982
NM_000414.4(HSD17B4):c.58+189G>C rs1554059562
NM_000426.4(LAMA2):c.6269-831C>T rs371162111
NM_000426.4(LAMA2):c.6269-845C>T rs1554297888
NM_000426.4(LAMA2):c.6269-848T>A rs1554297884
NM_000426.4(LAMA2):c.6269-848T>C rs1554297884
NM_000426.4(LAMA2):c.6269-849C>T rs1554297881
NM_000426.4(LAMA2):c.6269-852A>C rs766496312
NM_000426.4(LAMA2):c.6269-855A>C rs1554297879
NM_000426.4(LAMA2):c.6269-855A>G rs1554297879
NM_000426.4(LAMA2):c.7473A>G (p.Lys2491=) rs886038295
NM_000441.2(SLC26A4):c.1544+9C>G rs368970459
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000455.5(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000455.5(STK11):c.1062C>T (p.Phe354=) rs59912467
NM_000455.5(STK11):c.120C>T (p.Arg40=) rs878853984
NM_000455.5(STK11):c.290+21_290+26dup rs1555735086
NM_000455.5(STK11):c.375-5C>T rs1057517626
NM_000455.5(STK11):c.464+20del rs730881960
NM_000455.5(STK11):c.465-17GT[2] rs749644491
NM_000455.5(STK11):c.537G>A (p.Pro179=) rs528535500
NM_000455.5(STK11):c.597+15G>T rs774187994
NM_000455.5(STK11):c.597+21dup rs534445875
NM_000455.5(STK11):c.734+17C>A rs751929304
NM_000455.5(STK11):c.735-19C>T rs1057517576
NM_000455.5(STK11):c.920+7G>A rs2075607
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212
NM_000465.4(BARD1):c.1811-16dup rs760333316
NM_000465.4(BARD1):c.215+20T>C rs200715720
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.364+16A>G rs201219625
NM_000465.4(BARD1):c.365-8del rs776103948
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000478.6(ALPL):c.174G>A (p.Leu58=) rs757176737
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1584+11_1584+13dup rs1554384454
NM_000492.4(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.4(CFTR):c.3368-19G>A rs374104839
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3874-26dup rs1554396371
NM_000492.4(CFTR):c.489+87_489+88dup rs1554379931
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000492.4(CFTR):c.490-26del rs781120531
NM_000518.5(HBB):c.*132+34C>A rs1277208445
NM_000520.6(HEXA):c.1421+11del rs922064515
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+15G>T rs185764548
NM_000528.4(MAN2B1):c.2355+33C>T rs374660827
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.2175-11G>T rs538914402
NM_000535.7(PMS2):c.23+6C>T rs779104357
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.804-12A>G rs1221537446
NM_000535.7(PMS2):c.903+20_903+21del rs746861817
NM_000546.6(TP53):c.375+17G>A rs765179201
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.6(TP53):c.768A>G (p.Thr256=) rs786203563
NM_000546.6(TP53):c.783-13C>G rs1555525373
NM_000546.6(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_000546.6(TP53):c.993+223T>G rs3021068
NM_000546.6(TP53):c.993+244G>A rs576532147
NM_000546.6(TP53):c.993+312_993+314del rs1555524872
NM_000546.6(TP53):c.993+326_993+341del rs730882013
NM_000551.4(VHL):c.345C>T (p.His115=) rs864622646
NM_000642.3(AGL):c.82+1547T>C rs1553181605
NM_000642.3(AGL):c.83-19del rs1553183146
NM_000642.3(AGL):c.83-24del rs1553183144
NM_000642.3(AGL):c.83-29G>T rs767476472
NM_001039958.2(MESP2):c.957G>A (p.Ser319=) rs752665246
NM_001040716.2(PC):c.633+38_633+58del rs1213292231
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.963-63_963-44dup rs1555468153
NM_001048174.2(MUTYH):c.1435-9T>C rs372815910
NM_001048174.2(MUTYH):c.282C>T (p.Asp94=) rs876660505
NM_001048174.2(MUTYH):c.327G>A (p.Leu109=) rs1057517458
NM_001130987.2(DYSF):c.1149+7A>T rs771741504
NM_001130987.2(DYSF):c.3086-17G>T rs3764971
NM_001130987.2(DYSF):c.3228+8_3228+33del rs1553556251
NM_001130987.2(DYSF):c.4478_4481dup (p.Ser1495fs) rs1553389065
NM_001130987.2(DYSF):c.4494dup (p.Thr1499fs) rs1553389118
NM_001130987.2(DYSF):c.46AAG[1] (p.Lys17del) rs1553501109
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112
NM_001164277.2(SLC37A4):c.1008T>C (p.Ala336=) rs782726848
NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=) rs1555190535
NM_001164277.2(SLC37A4):c.1032C>G (p.Gly344=) rs1555190521
NM_001164277.2(SLC37A4):c.1042C>T (p.Leu348=) rs1555190509
NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=) rs1555190486
NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=) rs1555190477
NM_001164277.2(SLC37A4):c.108A>C (p.Pro36=) rs1555191843
NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=) rs1555190455
NM_001164277.2(SLC37A4):c.1124+26C>T rs782811246
NM_001164277.2(SLC37A4):c.1124+34C>T rs1555190425
NM_001164277.2(SLC37A4):c.1124+36C>A rs547915912
NM_001164277.2(SLC37A4):c.1124+38C>G rs1184172656
NM_001164277.2(SLC37A4):c.1124+38C>T rs1184172656
NM_001164277.2(SLC37A4):c.1124+51T>C rs1555190420
NM_001164277.2(SLC37A4):c.1124+55G>A rs1555190418
NM_001164277.2(SLC37A4):c.1124+57C>T rs1555190417
NM_001164277.2(SLC37A4):c.1124+7G>A rs1555190438
NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=) rs1464199067
NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=) rs1555190394
NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=) rs1555190388
NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=) rs1555190367
NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=) rs782137743
NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=) rs1555191835
NM_001164277.2(SLC37A4):c.149-20A>G rs1555191648
NM_001164277.2(SLC37A4):c.149-21T>G rs1555191649
NM_001164277.2(SLC37A4):c.149-22C>T rs369353938
NM_001164277.2(SLC37A4):c.149-35del rs1555191655
NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=) rs1555191904
NM_001164277.2(SLC37A4):c.258G>A (p.Leu86=) rs1555191590
NM_001164277.2(SLC37A4):c.282T>C (p.Phe94=) rs1555191568
NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=) rs561054469
NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=) rs782188658
NM_001164277.2(SLC37A4):c.348G>A (p.Leu116=) rs1555191533
NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=) rs1311198538
NM_001164277.2(SLC37A4):c.360A>G (p.Pro120=) rs1555191522
NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=) rs1555191518
NM_001164277.2(SLC37A4):c.381+8C>T rs782284449
NM_001164277.2(SLC37A4):c.382-19G>T rs1380601197
NM_001164277.2(SLC37A4):c.459T>A (p.Pro153=) rs1555191349
NM_001164277.2(SLC37A4):c.45A>T (p.Ser15=) rs1555191880
NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=) rs1395094300
NM_001164277.2(SLC37A4):c.471C>T (p.Thr157=) rs775227522
NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=) rs369409989
NM_001164277.2(SLC37A4):c.552C>A (p.Leu184=) rs1300746467
NM_001164277.2(SLC37A4):c.555G>C (p.Leu185=) rs891986567
NM_001164277.2(SLC37A4):c.561C>A (p.Ile187=) rs1555191248
NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=) rs1555191231
NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=) rs1555191222
NM_001164277.2(SLC37A4):c.626+10C>A rs757924969
NM_001164277.2(SLC37A4):c.626+11A>T rs747150144
NM_001164277.2(SLC37A4):c.626+16G>C rs74673344
NM_001164277.2(SLC37A4):c.626+30G>A rs1555191200
NM_001164277.2(SLC37A4):c.626+35C>G rs1555191199
NM_001164277.2(SLC37A4):c.626+7C>T rs1555191207
NM_001164277.2(SLC37A4):c.627-16C>G rs1011663035
NM_001164277.2(SLC37A4):c.649C>T (p.Leu217=) rs1555191117
NM_001164277.2(SLC37A4):c.684G>A (p.Val228=) rs925741468
NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=) rs782333619
NM_001164277.2(SLC37A4):c.708G>A (p.Val236=) rs1223570543
NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=) rs782547500
NM_001164277.2(SLC37A4):c.747C>T (p.Phe249=) rs782584884
NM_001164277.2(SLC37A4):c.780T>C (p.Leu260=) rs1555191052
NM_001164277.2(SLC37A4):c.785+8G>A rs782075266
NM_001164277.2(SLC37A4):c.786-18_786-16del rs1555191005
NM_001164277.2(SLC37A4):c.786-20A>G rs1555191008
NM_001164277.2(SLC37A4):c.867A>C (p.Ala289=) rs1555190933
NM_001164277.2(SLC37A4):c.871+19C>T rs782487764
NM_001164277.2(SLC37A4):c.872-17C>T rs1286218803
NM_001164277.2(SLC37A4):c.879G>C (p.Leu293=) rs1555190765
NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=) rs1388277495
NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=) rs374287329
NM_001164277.2(SLC37A4):c.907C>T (p.Leu303=) rs1555190749
NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=) rs1555190747
NM_001164277.2(SLC37A4):c.913C>T (p.Leu305=) rs1555190743
NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=) rs1555190722
NM_001164277.2(SLC37A4):c.957G>A (p.Arg319=) rs973616226
NM_001164277.2(SLC37A4):c.957G>C (p.Arg319=) rs973616226
NM_001164277.2(SLC37A4):c.985+196del rs1555190657
NM_001164277.2(SLC37A4):c.985+206C>T rs1555190652
NM_001164277.2(SLC37A4):c.985+234C>T rs1555190642
NM_001164277.2(SLC37A4):c.985+238dup rs1555190640
NM_001164277.2(SLC37A4):c.985+252C>G rs1173737788
NM_001164277.2(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT rs1555190633
NM_001164277.2(SLC37A4):c.985+278G>A rs781909226
NM_001164277.2(SLC37A4):c.985+286G>A rs1019246810
NM_001164277.2(SLC37A4):c.985+288T>G rs1555190624
NM_001164277.2(SLC37A4):c.993C>T (p.Ile331=) rs1555190553
NM_001164508.2(NEB):c.19102-31_19102-30del rs774225336
NM_001164508.2(NEB):c.21972G>A (p.Lys7324=) rs267598918
NM_001164508.2(NEB):c.22273-36CT[5] rs751597547
NM_001164508.2(NEB):c.23128-18del rs1553616477
NM_001164508.2(NEB):c.6507G>A (p.Lys2169=) rs267598923
NM_001164508.2(NEB):c.9363T>G (p.Pro3121=) rs6709886
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.2(RTEL1):c.3786C>T (p.Phe1262=) rs1555814752
NM_001365088.1(SLC12A6):c.271+17808T>G rs137998688
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001370259.2(MEN1):c.655-5dup rs772016629
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10213+17G>C rs1553416885
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=) rs373682259
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11547+12C>A rs755559102
NM_001378454.1(ALMS1):c.11547+12C>T rs755559102
NM_001378454.1(ALMS1):c.11547+7G>C rs1553418641
NM_001378454.1(ALMS1):c.11548-19A>T rs760271173
NM_001378454.1(ALMS1):c.11668+12A>G rs1553421500
NM_001378454.1(ALMS1):c.11778T>C (p.Thr3926=) rs368160921
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.11872+12A>G rs193922691
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.12114+14G>T rs1057524070
NM_001378454.1(ALMS1):c.12114+19A>G rs760374917
NM_001378454.1(ALMS1):c.12114+19A>T rs760374917
NM_001378454.1(ALMS1):c.12298+19C>T rs1553421935
NM_001378454.1(ALMS1):c.12362+16C>G rs1553422061
NM_001378454.1(ALMS1):c.1237+14T>C rs1482335275
NM_001378454.1(ALMS1):c.1237+9C>T rs201471551
NM_001378454.1(ALMS1):c.12462+12C>T rs1553422680
NM_001378454.1(ALMS1):c.12462+12_12462+18del rs1374364094
NM_001378454.1(ALMS1):c.12462+19T>C rs1309452497
NM_001378454.1(ALMS1):c.1338+11A>G rs1553400967
NM_001378454.1(ALMS1):c.1338+20T>A rs1466354765
NM_001378454.1(ALMS1):c.1432+12A>G rs1553401640
NM_001378454.1(ALMS1):c.1432+14G>A rs1204922039
NM_001378454.1(ALMS1):c.1432+16A>G rs1553401642
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=) rs1238528749
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=) rs751486678
NM_001378454.1(ALMS1):c.324+12C>T rs1553396311
NM_001378454.1(ALMS1):c.324+14G>A rs1553396313
NM_001378454.1(ALMS1):c.324+16G>C rs1276086207
NM_001378454.1(ALMS1):c.324+16G>T rs1276086207
NM_001378454.1(ALMS1):c.324+18G>A rs1553396316
NM_001378454.1(ALMS1):c.324+7C>G rs1230102179
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=) rs1553403752
NM_001378454.1(ALMS1):c.3828T>C (p.Thr1276=) rs1553403755
NM_001378454.1(ALMS1):c.450+11T>G rs763724672
NM_001378454.1(ALMS1):c.450+12G>A rs1553398856
NM_001378454.1(ALMS1):c.450+19G>A rs1553398858
NM_001378454.1(ALMS1):c.450+22_450+25del rs764559198
NM_001378454.1(ALMS1):c.450+24_450+40del rs1553398860
NM_001378454.1(ALMS1):c.451-16T>C rs1553399953
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=) rs373864798
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=) rs1553396127
NM_001378454.1(ALMS1):c.6216A>G (p.Leu2072=) rs754288227
NM_001378454.1(ALMS1):c.646+10G>A rs1553399998
NM_001378454.1(ALMS1):c.646+8C>T rs760012033
NM_001378454.1(ALMS1):c.647-19_647-18insT rs1553400422
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=) rs1553404267
NM_001378454.1(ALMS1):c.7540+11A>G rs1553404509
NM_001378454.1(ALMS1):c.7540+14T>G rs533780922
NM_001378454.1(ALMS1):c.7540+20C>A rs1410444926
NM_001378454.1(ALMS1):c.7541-17G>C rs758134188
NM_001378454.1(ALMS1):c.7541-19G>A rs1553404624
NM_001378454.1(ALMS1):c.764+9A>T rs551013858
NM_001378454.1(ALMS1):c.7653A>T (p.Gly2551=) rs1553404658
NM_001378454.1(ALMS1):c.7674+10A>G rs1553404676
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=) rs1553409598
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=) rs371736476
NM_001378454.1(ALMS1):c.9539+10A>G rs1553409904
NM_001378454.1(ALMS1):c.9539+13G>C rs369860432
NM_001378454.1(ALMS1):c.9539+20C>T rs759559244
NM_001378454.1(ALMS1):c.9540-16del rs765235024
NM_001378454.1(ALMS1):c.9781+11G>A rs970258030
NM_001378454.1(ALMS1):c.9781+19A>C rs895296631
NM_001378454.1(ALMS1):c.9782-18T>C rs995894081
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=) rs187880759
NM_001378454.1(ALMS1):c.9907+17A>G rs772675597
NM_001378454.1(ALMS1):c.9907+20C>A rs74730457
NM_001384140.1(PCDH15):c.158-16930T>C rs207470941
NM_001384140.1(PCDH15):c.4368-3205G>A rs776152870
NM_001384140.1(PCDH15):c.4368-3205del rs1554821197
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001875.5(CPS1):c.4102-559G>C rs529803364
NM_001876.4(CPT1A):c.1875+10_1875+33del rs1555226542
NM_001918.5(DBT):c.52-48_52-45delinsTAC rs1553233176
NM_001918.5(DBT):c.641_643del (p.Gly214del) rs1553230840
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002485.5(NBN):c.172-529G>A rs104895039
NM_002485.5(NBN):c.2235-12C>T rs1554553904
NM_002485.5(NBN):c.480+10A>G rs878854512
NM_002485.5(NBN):c.702+7A>G rs864622602
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002691.4(POLD1):c.1138-14G>A rs200111674
NM_002691.4(POLD1):c.1242+18G>A rs1057517580
NM_002691.4(POLD1):c.1384-13C>G rs536467012
NM_002691.4(POLD1):c.1494+5C>T rs565428379
NM_002691.4(POLD1):c.1686+15C>T rs1057517619
NM_002691.4(POLD1):c.1687-7C>T rs1332104657
NM_002691.4(POLD1):c.1775+7C>T rs1057517591
NM_002691.4(POLD1):c.2155-15T>C rs1555792523
NM_002691.4(POLD1):c.2565-15C>T rs777857423
NM_002691.4(POLD1):c.2717+15G>T rs372493810
NM_002691.4(POLD1):c.2717+9C>T rs760140187
NM_002691.4(POLD1):c.2953+12_2953+14delinsTC rs1555793370
NM_002691.4(POLD1):c.3067+11del rs780881147
NM_002691.4(POLD1):c.317-8C>T rs1057524774
NM_002691.4(POLD1):c.3218+9_3218+10inv
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537
NM_002691.4(POLD1):c.840+10_840+19del rs770291150
NM_002878.4(RAD51D):c.263+1455del rs979233150
NM_002878.4(RAD51D):c.263+1507_263+1509del rs753760360
NM_002878.4(RAD51D):c.263+1596T>C rs1057517631
NM_002878.4(RAD51D):c.263+1597C>A rs755753106
NM_002878.4(RAD51D):c.757C>A (p.Arg253=) rs137886232
NM_003000.3(SDHB):c.424-14_424-9dup rs1064794554
NM_003494.4(DYSF):c.75C>T (p.Ser25=) rs375772222
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_004004.6(GJB2):c.312G>A (p.Arg104=) rs267603770
NM_004168.4(SDHA):c.1432+20G>C rs200127852
NM_004329.3(BMPR1A):c.1166+14del rs1554891117
NM_004329.3(BMPR1A):c.1167-13T>G rs1057517581
NM_004329.3(BMPR1A):c.334-16A>G rs143279531
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=) rs786202827
NM_004360.5(CDH1):c.1009-14C>G rs368293695
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.1321-19_1321-16del rs1555516065
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.163+4_163+6dup rs1205684749
NM_004360.5(CDH1):c.1712-8T>C rs1060504172
NM_004360.5(CDH1):c.300C>G (p.Val100=) rs786201463
NM_004360.5(CDH1):c.49-16C>G rs1057517618
NM_004360.5(CDH1):c.687+21del rs778134914
NM_004360.5(CDH1):c.832+17G>A rs373179391
NM_004628.5(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004937.3(CTNS):c.225+5_225+7dup rs1555561050
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.956-7C>T rs778959035
NM_005562.3(LAMC2):c.3328+19_3328+25del rs747693187
NM_005562.3(LAMC2):c.3328+8AACCCAC[3] rs747693187
NM_005591.4(MRE11):c.1226-5T>C rs1555009952
NM_005732.4(RAD50):c.1246-11T>C rs746985455
NM_005732.4(RAD50):c.1246-8G>T rs776650264
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.3164+22_3164+25dup rs536987915
NM_005732.4(RAD50):c.756+7del rs377720482
NM_006019.4(TCIRG1):c.807+8_807+31del rs1554995901
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1473+19G>A rs1057517628
NM_006231.4(POLE):c.1474-13G>A rs1555228383
NM_006231.4(POLE):c.1687-13A>G rs527311638
NM_006231.4(POLE):c.2026+14G>T rs751509566
NM_006231.4(POLE):c.2027-16A>G rs1057517614
NM_006231.4(POLE):c.2320-9G>T rs769834031
NM_006231.4(POLE):c.3275+12_3275+37dup rs1057517627
NM_006231.4(POLE):c.3275+14C>G rs368185422
NM_006231.4(POLE):c.4150-12T>C rs551697046
NM_006231.4(POLE):c.4728+14_4728+21del rs1311664292
NM_006231.4(POLE):c.4729-16dup rs1057517615
NM_006231.4(POLE):c.4952+13C>T rs1057517612
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006231.4(POLE):c.4952+20_4952+22del rs752389775
NM_006231.4(POLE):c.5679-14T>C rs1555221517
NM_006231.4(POLE):c.6532-21_6532-20del rs1555301127
NM_006231.4(POLE):c.6658-12G>C rs1555300850
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.721-13GT[2] rs752682384
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-14C>G rs145754558
NM_007194.4(CHEK2):c.593-15T>A rs757717459
NM_007194.4(CHEK2):c.84C>A (p.Ser28=) rs863224415
NM_007194.4(CHEK2):c.909-28_909-20del rs1555915597
NM_007294.4(BRCA1):c.*1286C>T rs548275991
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.213-24G>A rs1555596751
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.231G>A (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.2472T>C (p.Asn824=) rs786201415
NM_007294.4(BRCA1):c.2706A>G (p.Glu902=) rs398122665
NM_007294.4(BRCA1):c.2811G>A (p.Lys937=) rs876659271
NM_007294.4(BRCA1):c.2913T>C (p.His971=) rs786203804
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=) rs80356828
NM_007294.4(BRCA1):c.4185+10G>A rs80358104
NM_007294.4(BRCA1):c.4185+9C>A rs80358034
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.4191G>A (p.Arg1397=) rs1555584270
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.4(BRCA1):c.42C>T (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.4358-2760dup rs1555583250
NM_007294.4(BRCA1):c.441+17T>C rs368415464
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met) rs80357431
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.5153-26A>G rs80358109
NM_007294.4(BRCA1):c.5194-10T>C rs1555576995
NM_007294.4(BRCA1):c.5406+24_5406+27del rs766938984
NM_007294.4(BRCA1):c.5406+53A>T rs273901766
NM_007294.4(BRCA1):c.5407-21C>T rs273901768
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.756T>C (p.Arg252=) rs786201338
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-20C>T rs80358039
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del) rs567346433
NM_012203.2(GRHPR):c.83+51G>A rs1554746162
NM_012203.2(GRHPR):c.83+51_83+52delinsA rs35891798
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_014249.4(NR2E3):c.350-26C>T rs1048078452
NM_014249.4(NR2E3):c.571+44C>G rs372602322
NM_014363.6(SACS):c.*20del rs143617437
NM_014363.6(SACS):c.1173T>A (p.Ser391=) rs150683286
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014625.4(NPHS2):c.451+15dup rs748179295
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936
NM_017739.4(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT rs1553162621
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=) rs1554824934
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=) rs1455372294
NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=) rs1554825004
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_020533.3(MCOLN1):c.777+12dup rs563339019
NM_020975.6(RET):c.2137-16del rs1409965349
NM_020975.6(RET):c.2284+54C>A rs566375223
NM_020975.6(RET):c.2523G>A (p.Pro841=) rs56195026
NM_020975.6(RET):c.3040-11C>G rs1057517646
NM_022042.4(SLC26A1):c.1357del (p.Ala453fs) rs768949918
NM_022042.4(SLC26A1):c.139del (p.Arg47fs) rs1553915793
NM_022042.4(SLC26A1):c.1484del (p.Ile495fs) rs1553915253
NM_022042.4(SLC26A1):c.154del (p.Asp52fs) rs1553915784
NM_022042.4(SLC26A1):c.1577_1578del (p.Thr526fs) rs1553915228
NM_022042.4(SLC26A1):c.1631_1632del (p.Gly544fs) rs1265696919
NM_022042.4(SLC26A1):c.1632dup (p.Pro545fs) rs1265696919
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr) rs387907481
NM_022042.4(SLC26A1):c.1732_1758del (p.Ser578_Gly586del) rs1553915189
NM_022042.4(SLC26A1):c.1735del (p.Glu579fs) rs1372086275
NM_022042.4(SLC26A1):c.1754del (p.Gly585fs) rs1553915192
NM_022042.4(SLC26A1):c.1765C>T (p.Gln589Ter) rs200798328
NM_022042.4(SLC26A1):c.1864del (p.Phe621_Leu622insTer) rs1553915173
NM_022042.4(SLC26A1):c.1901del (p.Arg634fs) rs1553915155
NM_022042.4(SLC26A1):c.1915del (p.Ala639fs) rs1553915149
NM_022042.4(SLC26A1):c.300C>A (p.Tyr100Ter) rs752252231
NM_022042.4(SLC26A1):c.309T>A (p.Tyr103Ter) rs1553915726
NM_022042.4(SLC26A1):c.335del (p.Tyr112fs) rs1553915711
NM_022042.4(SLC26A1):c.347del (p.Gly116fs) rs756881822
NM_024301.5(FKRP):c.1056C>T (p.Arg352=) rs886038682
NM_024301.5(FKRP):c.696G>T (p.Ala232=) rs398124394
NM_024301.5(FKRP):c.708G>A (p.Leu236=) rs886038683
NM_024649.5(BBS1):c.432+9_432+12del rs1555046629
NM_024675.4(PALB2):c.1684+10G>T rs1057517620
NM_024675.4(PALB2):c.1685-7T>G rs1555460705
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.2067G>T (p.Ser689=) rs371149159
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2130G>A (p.Thr710=) rs774049060
NM_024675.4(PALB2):c.2469C>G (p.Leu823=) rs515726087
NM_024675.4(PALB2):c.2514+20_2514+21del rs750567675
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2749-16_2749-14del rs765742648
NM_024675.4(PALB2):c.423G>A (p.Gln141=) rs786202680
NM_024675.4(PALB2):c.999C>T (p.Thr333=) rs180177096
NM_025077.4(TOE1):c.-54G>C rs540793556
NM_032043.3(BRIP1):c.1629-500G>A rs1057517645
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.2576-17T>G rs1057517647
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9189+2545TGA[9] rs113052866
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_058216.3(RAD51C):c.146-15T>C rs1036386535
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_138694.4(PKHD1):c.10156+22398A>G rs1554206689
NM_138694.4(PKHD1):c.5236+31_5236+34del rs547420704
NM_138694.4(PKHD1):c.7351-21dup rs768522482
NM_138694.4(PKHD1):c.8107+4555A>G rs207466959
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.2515+16596_2515+16608del rs1554674064
NM_152564.5(VPS13B):c.2515+16609T>G rs1554674081
NM_152564.5(VPS13B):c.2515+37177T>C rs207469599
NM_152564.5(VPS13B):c.4158-16A>C rs1554824637
NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=) rs1554824647
NM_152564.5(VPS13B):c.4224+725A>T rs1554825046
NM_152564.5(VPS13B):c.7941+20_7941+42del rs769286340
NM_152564.5(VPS13B):c.9384G>A (p.Gln3128=) rs267601673
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) rs1554956913
NM_153676.4(USH1C):c.1840del (p.Gln614fs) rs1554956916
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153717.3(EVC):c.1464+20T>C rs886038740
NM_174878.3(CLRN1):c.336C>G (p.Thr112=) rs565400473
NM_183050.4(BCKDHB):c.951+27209A>G rs207467187
NM_183050.4(BCKDHB):c.952-16_952-15del rs890103324
NM_198129.4(LAMA3):c.6836-36_6836-16del rs1555734493
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.3158-47_3158-17del rs1553315049
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.4(USH2A):c.6806-9473C>A rs207461105
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500

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