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
|
|