|
NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
|
NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
|
NM_020451.2(SELENON):c.-42T>C
|
rs12121707
|
0.99972
|
|
NM_005866.4(SIGMAR1):c.*31A>G
|
rs4879809
|
0.98825
|
|
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)
|
rs509504
|
0.98223
|
|
NM_004998.4(MYO1E):c.332+8G>A
|
rs4508371
|
0.97982
|
|
NM_012203.2(GRHPR):c.288-11C>T
|
rs2736664
|
0.92549
|
|
NM_022336.4(EDAR):c.750C>T (p.Ser250=)
|
rs260632
|
0.90287
|
|
NM_000352.6(ABCC8):c.2390+219T>C
|
rs4148632
|
0.89524
|
|
NM_000352.6(ABCC8):c.2256-50T>C
|
rs4148626
|
0.89459
|
|
NM_012203.2(GRHPR):c.494-68A>G
|
rs309459
|
0.86126
|
|
NM_012203.2(GRHPR):c.579A>G (p.Ala193=)
|
rs309458
|
0.85807
|
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
|
NM_000030.3(AGXT):c.777-44A>G
|
rs12464426
|
0.79262
|
|
NM_001366385.1(CARD14):c.675+26G>A
|
rs4889991
|
0.77525
|
|
NM_004415.4(DSP):c.2091A>G (p.Gly697=)
|
rs2076304
|
0.76849
|
|
NM_002526.4(NT5E):c.1126A>G (p.Thr376Ala)
|
rs2229523
|
0.76397
|
|
NM_001366110.1(PAX4):c.986A>C (p.His329Pro)
|
rs712701
|
0.74681
|
|
NM_000030.3(AGXT):c.*289A>C
|
rs4344931
|
0.74589
|
|
NM_000179.3(MSH6):c.3802-40C>G
|
rs3136367
|
0.73398
|
|
NM_002185.5(IL7R):c.412G>A (p.Val138Ile)
|
rs1494555
|
0.72524
|
|
NM_022336.4(EDAR):c.1056C>T (p.Cys352=)
|
rs12623957
|
0.72397
|
|
NM_000110.4(DPYD):c.85= (p.Cys29=)
|
rs1801265
|
0.72034
|
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
|
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala)
|
rs216311
|
0.71493
|
|
NM_025225.3(PNPLA3):c.1300A>G (p.Lys434Glu)
|
rs2294918
|
0.69785
|
|
NM_014585.6(SLC40A1):c.44-24G>C
|
rs1439816
|
0.69640
|
|
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)
|
rs2744380
|
0.68624
|
|
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)
|
rs1494558
|
0.68368
|
|
NM_014251.3(SLC25A13):c.328+6A>G
|
rs6957975
|
0.67687
|
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
|
NM_000186.4(CFH):c.1204C>T (p.His402Tyr)
|
rs1061170
|
0.63625
|
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
|
NM_005013.2(NUCB2):c.-406C>G
|
rs214088
|
0.62041
|
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
|
NM_021922.3(FANCE):c.248+58A>C
|
rs9470029
|
0.61786
|
|
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)
|
rs1064975
|
0.61566
|
|
NM_000243.3(MEFV):c.942C>T (p.Arg314=)
|
rs224213
|
0.61317
|
|
NM_001308093.3(GATA4):c.1000+56C>A
|
rs804280
|
0.61291
|
|
NM_015602.4(TOR1AIP1):c.554-4G>A
|
rs2245425
|
0.58997
|
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
|
NM_181486.4(TBX5):c.663+36G>T
|
rs2236017
|
0.54802
|
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
|
NM_000179.3(MSH6):c.3556+146G>A
|
rs7562048
|
0.54192
|
|
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=)
|
rs6337
|
0.53946
|
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
|
NM_004822.3(NTN1):c.1018+5374C>T
|
rs4791331
|
0.52844
|
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
|
NM_000552.5(VWF):c.1451A>G (p.His484Arg)
|
rs1800378
|
0.51348
|
|
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
|
NM_007294.4(BRCA1):c.213-161A>G
|
rs799912
|
0.49747
|
|
NM_001605.3(AARS1):c.903C>T (p.His301=)
|
rs2070203
|
0.49332
|
|
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)
|
rs3827075
|
0.49054
|
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.48544
|
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
|
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
|
rs743616
|
0.48362
|
|
NM_016816.4(OAS1):c.484G>A (p.Gly162Ser)
|
rs1131454
|
0.47874
|
|
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)
|
rs7195066
|
0.46389
|
|
NM_174936.4(PCSK9):c.658-7C>T
|
rs2483205
|
0.45035
|
|
NM_000352.6(ABCC8):c.4120-27T>C
|
rs739689
|
0.45032
|
|
NM_000312.4(PROC):c.-50A>T
|
rs1799810
|
0.44475
|
|
NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val)
|
rs203462
|
0.43766
|
|
NM_000030.3(AGXT):c.846+52G>A
|
rs12695032
|
0.43208
|
|
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
|
rs7157716
|
0.43030
|
|
NM_014000.3(VCL):c.2388G>A (p.Pro796=)
|
rs767809
|
0.42862
|
|
NM_021922.3(FANCE):c.900+39A>G
|
rs13214239
|
0.42135
|
|
NM_000552.5(VWF):c.1548T>C (p.Tyr516=)
|
rs1800379
|
0.41956
|
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
|
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)
|
rs1063856
|
0.40814
|
|
NM_000552.5(VWF):c.2385T>C (p.Tyr795=)
|
rs1063857
|
0.40791
|
|
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)
|
rs11528010
|
0.40719
|
|
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)
|
rs767455
|
0.39963
|
|
NM_000243.3(MEFV):c.1760-30T>A
|
rs1231123
|
0.39404
|
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
|
NM_001065.4(TNFRSF1A):c.625+10A>G
|
rs1800693
|
0.38055
|
|
NM_001366385.1(CARD14):c.633G>A (p.Glu211=)
|
rs4889990
|
0.37893
|
|
NM_000352.6(ABCC8):c.4609-40A>G
|
rs1109591
|
0.36421
|
|
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)
|
rs2301629
|
0.34968
|
|
NM_005343.4(HRAS):c.81T>C (p.His27=)
|
rs12628
|
0.34645
|
|
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)
|
rs1065757
|
0.34419
|
|
NM_019076.5(UGT1A8):c.855+63319T>G
|
rs7586110
|
0.34319
|
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
|
NM_001371928.1(AHDC1):c.100A>C (p.Thr34Pro)
|
rs758473342
|
0.32198
|
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
|
NM_007294.4(BRCA1):c.4485-63C>G
|
rs273900734
|
0.30900
|
|
NM_007294.4(BRCA1):c.-19-115T>C
|
rs3765640
|
0.30895
|
|
NM_000030.3(AGXT):c.*41C>A
|
rs4273214
|
0.30802
|
|
NM_007294.4(BRCA1):c.547+146A>T
|
rs8176140
|
0.30790
|
|
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser)
|
rs2297950
|
0.29831
|
|
NM_138413.4(HOGA1):c.912C>A (p.Ala304=)
|
rs12261752
|
0.29673
|
|
NM_000130.5(F5):c.4095C>T (p.Thr1365=)
|
rs9332607
|
0.29522
|
|
NM_000030.3(AGXT):c.524+91C>T
|
rs10196315
|
0.29513
|
|
NM_000130.5(F5):c.5290A>G (p.Met1764Val)
|
rs6030
|
0.29437
|
|
NM_021871.4(FGA):c.991A>G (p.Thr331Ala)
|
rs6050
|
0.29256
|
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
|
NM_000140.5(FECH):c.68-23C>T
|
rs2269219
|
0.27629
|
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
|
NM_000312.4(PROC):c.768T>C (p.Asp256=)
|
rs5937
|
0.27234
|
|
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln)
|
rs2286963
|
0.27207
|
|
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=)
|
rs1055432
|
0.26164
|
|
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg)
|
rs351855
|
0.26099
|
|
NM_000552.5(VWF):c.2880G>A (p.Arg960=)
|
rs1800380
|
0.25897
|
|
NM_003126.4(SPTA1):c.6531-12C>T
|
rs28525570
|
0.25447
|
|
NM_005656.4(TMPRSS2):c.478G>A (p.Val160Met)
|
rs12329760
|
0.25326
|
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
|
NM_000130.5(F5):c.2573A>G (p.Lys858Arg)
|
rs4524
|
0.24159
|
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
|
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser)
|
rs10490924
|
0.22973
|
|
NM_177438.3(DICER1):c.1907+105C>T
|
rs2275182
|
0.22841
|
|
NM_003194.5(TBP):c.228G>A (p.Gln76=)
|
rs112083427
|
0.22669
|
|
NM_000249.4(MLH1):c.-93G>A
|
rs1800734
|
0.22121
|
|
NM_000129.4(F13A1):c.103G>T (p.Val35Leu)
|
rs5985
|
0.22002
|
|
NM_000071.3(CBS):c.*123C>G
|
rs1051319
|
0.21968
|
|
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)
|
rs738409
|
0.21657
|
|
NM_000059.4(BRCA2):c.681+56C>T
|
rs2126042
|
0.21010
|
|
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)
|
rs224222
|
0.20976
|
|
NC_000011.10:g.5254939G>A
|
rs7482144
|
0.20740
|
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
|
NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu)
|
rs5982
|
0.18893
|
|
NM_000136.3(FANCC):c.250+220G>A
|
rs356667
|
0.18637
|
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
|
NM_000455.5(STK11):c.920+7G>C
|
rs2075607
|
0.16357
|
|
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile)
|
rs1046712
|
0.16155
|
|
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262
|
0.15945
|
|
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)
|
rs5030732
|
0.15471
|
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
|
NM_000552.5(VWF):c.6846A>G (p.Thr2282=)
|
rs1053523
|
0.15412
|
|
NM_000030.3(AGXT):c.264C>T (p.Ala88=)
|
rs35698882
|
0.15328
|
|
NM_000059.4(BRCA2):c.*105A>C
|
rs15869
|
0.15131
|
|
NM_007214.5(SEC63):c.1936-7_1936-5dup
|
rs766716921
|
0.15112
|
|
NM_000361.3(THBD):c.1418C>T (p.Ala473Val)
|
rs1042579
|
0.15009
|
|
NM_000030.3(AGXT):c.680+17C>T
|
rs11693280
|
0.14843
|
|
NM_000030.3(AGXT):c.358+13C>T
|
rs34995778
|
0.14826
|
|
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)
|
rs9462088
|
0.14730
|
|
NM_021922.3(FANCE):c.856-70G>A
|
rs9470033
|
0.14674
|
|
NM_021922.3(FANCE):c.1316+19G>A
|
rs6457823
|
0.14669
|
|
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)
|
rs55834942
|
0.13864
|
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
|
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)
|
rs113097169
|
0.13255
|
|
NM_000179.3(MSH6):c.260+22C>G
|
rs55927047
|
0.13136
|
|
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)
|
rs534165083
|
0.12965
|
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
|
NM_000535.7(PMS2):c.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
|
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)
|
rs1800450
|
0.11335
|
|
NM_001001331.4(ATP2B2):c.1551C>T (p.Gly517=)
|
rs2289273
|
0.10735
|
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
|
NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp)
|
rs4253527
|
0.10197
|
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
|
NM_025194.3(ITPKC):c.1155+9G>C
|
rs28493229
|
0.10089
|
|
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val)
|
rs12994774
|
0.09975
|
|
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys)
|
rs2234926
|
0.09970
|
|
NM_004360.5(CDH1):c.1937-13T>C
|
rs2276330
|
0.09635
|
|
NM_004483.5(GCSH):c.-4G>T
|
rs779613867
|
0.09245
|
|
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)
|
rs3729856
|
0.09064
|
|
NM_001289125.3(IFNAR2):c.23T>C (p.Phe8Ser)
|
rs2229207
|
0.08893
|
|
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)
|
rs61752479
|
0.08857
|
|
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala)
|
rs7014851
|
0.08773
|
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
|
NM_021922.3(FANCE):c.970-84T>C
|
rs3800376
|
0.08678
|
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
rs7412
|
0.07986
|
|
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)
|
rs6092
|
0.07905
|
|
NM_000218.3(KCNQ1):c.1590+14T>C
|
rs11024034
|
0.07860
|
|
NM_018206.6(VPS35):c.*283del
|
rs886052005
|
0.07609
|
|
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
|
rs13451
|
0.07238
|
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
|
NM_007294.4(BRCA1):c.4357+117G>A
|
rs3737559
|
0.06818
|
|
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)
|
rs34764749
|
0.06739
|
|
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)
|
rs2904552
|
0.06735
|
|
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)
|
rs60910145
|
0.06710
|
|
NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)
|
rs4986790
|
0.06665
|
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
|
NM_022356.4(P3H1):c.*77C>T
|
rs13871
|
0.06035
|
|
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)
|
rs6700677
|
0.06024
|
|
NM_000022.4(ADA):c.239A>G (p.Lys80Arg)
|
rs11555566
|
0.05947
|
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
|
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile)
|
rs11581921
|
0.05897
|
|
NM_000130.5(F5):c.730+7C>T
|
rs6023
|
0.05754
|
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
|
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg)
|
rs77874543
|
0.05538
|
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
|
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
|
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)
|
rs8192690
|
0.05059
|
|
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)
|
rs17232246
|
0.04972
|
|
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)
|
rs5030737
|
0.04964
|
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
|
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)
|
rs1805007
|
0.04832
|
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
|
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro)
|
rs200975594
|
0.04768
|
|
NM_001202.6(BMP4):c.*148_*149del
|
rs140085940
|
0.04744
|
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
|
NM_001142446.2(ANK1):c.127-39509T>C
|
rs77173848
|
0.04675
|
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
|
NM_003721.4(RFXANK):c.213C>T (p.Thr71=)
|
rs72997200
|
0.04571
|
|
NM_000399.5(EGR2):c.1086A>C (p.Arg362=)
|
rs45602133
|
0.04462
|
|
NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
|
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)
|
rs76275444
|
0.04436
|
|
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)
|
rs2227869
|
0.04366
|
|
NM_000059.4(BRCA2):c.9257-83G>A
|
rs9595456
|
0.04317
|
|
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)
|
rs55716016
|
0.04262
|
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
|
NM_174936.4(PCSK9):c.657+9G>A
|
rs11800243
|
0.03991
|
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
|
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)
|
rs7761870
|
0.03770
|
|
NM_000059.4(BRCA2):c.425+67A>C
|
rs11571610
|
0.03705
|
|
NM_000059.4(BRCA2):c.426-89T>C
|
rs3783265
|
0.03704
|
|
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)
|
rs61735578
|
0.03636
|
|
NM_000384.3(APOB):c.2706C>T (p.Asn902=)
|
rs1801700
|
0.03627
|
|
NM_000352.6(ABCC8):c.-49G>C
|
rs77498130
|
0.03452
|
|
NM_000136.3(FANCC):c.*116A>C
|
rs7048910
|
0.03439
|
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
|
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp)
|
rs41291058
|
0.03285
|
|
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)
|
rs35829419
|
0.03262
|
|
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala)
|
rs9697983
|
0.03160
|
|
NM_198578.3(LRRK2):c.149A>G (p.His50Arg)
|
rs2256408
|
0.03048
|
|
NM_130839.5(UBE3A):c.477A>T (p.Ala159=)
|
rs28528079
|
0.03018
|
|
NM_014009.4(FOXP3):c.543C>T (p.Ser181=)
|
rs2232367
|
0.03006
|
|
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02976
|
|
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)
|
rs2066844
|
0.02936
|
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
|
NM_000295.5(SERPINA1):c.-10T>C
|
rs11558258
|
0.02837
|
|
NM_000135.4(FANCA):c.3348+18A>G
|
rs1800347
|
0.02828
|
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
|
NM_138413.4(HOGA1):c.396G>A (p.Ala132=)
|
rs41290456
|
0.02716
|
|
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)
|
rs115532916
|
0.02662
|
|
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe)
|
rs569543350
|
0.02637
|
|
NM_006433.5(GNLY):c.11G>A (p.Trp4Ter)
|
rs10181739
|
0.02612
|
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
|
NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg)
|
rs9943208
|
0.02564
|
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
|
NM_213599.3(ANO5):c.*554C>T
|
rs117180492
|
0.02476
|
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
|
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)
|
rs34885252
|
0.02454
|
|
NM_174936.4(PCSK9):c.705C>T (p.Ser235=)
|
rs7552471
|
0.02435
|
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
|
NM_021922.3(FANCE):c.1071C>T (p.Leu357=)
|
rs3823434
|
0.02388
|
|
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp)
|
rs16849700
|
0.02374
|
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
|
NM_130839.5(UBE3A):c.373T>C (p.Leu125=)
|
rs61734190
|
0.02311
|
|
NM_213599.3(ANO5):c.*279G>A
|
rs72982058
|
0.02298
|
|
NM_000384.3(APOB):c.8148C>T (p.Ile2716=)
|
rs6413458
|
0.02288
|
|
NM_000136.3(FANCC):c.1345G>A (p.Val449Met)
|
rs1800367
|
0.02254
|
|
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val)
|
rs61747727
|
0.02224
|
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
|
NM_000384.3(APOB):c.10701G>A (p.Thr3567=)
|
rs12713558
|
0.02176
|
|
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)
|
rs9282858
|
0.02117
|
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
|
NM_000059.4(BRCA2):c.7397= (p.Val2466=)
|
rs169547
|
0.02098
|
|
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro)
|
rs372125621
|
0.02081
|
|
NM_016938.5(EFEMP2):c.-113C>T
|
rs188624478
|
0.02060
|
|
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)
|
rs114082868
|
0.02057
|
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
|
NM_001037165.2(FOXK1):c.202G>A (p.Ala68Thr)
|
rs574086514
|
0.02024
|
|
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)
|
rs111784356
|
0.02010
|
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
|
NM_001365951.3(KIF1B):c.2115+6753A>G
|
rs41274462
|
0.01960
|
|
NM_004646.4(NPHS1):c.59-5C>G
|
rs114595892
|
0.01945
|
|
NM_007294.4(BRCA1):c.5075-53C>T
|
rs8176258
|
0.01914
|
|
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser)
|
rs33931006
|
0.01841
|
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
|
NM_012144.4(DNAI1):c.297A>G (p.Gln99=)
|
rs77344166
|
0.01778
|
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
|
NM_213599.3(ANO5):c.2259A>G (p.Ser753=)
|
rs61746201
|
0.01772
|
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
|
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)
|
rs61757683
|
0.01760
|
|
NM_001080421.3(UNC13A):c.4197+7C>T
|
rs148883310
|
0.01751
|
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
|
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01729
|
|
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser)
|
rs72470544
|
0.01709
|
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
|
NG_012820.2(ANK1):g.104072G>A
|
rs183894680
|
0.01664
|
|
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val)
|
rs35910969
|
0.01664
|
|
NM_000352.6(ABCC8):c.-19A>G
|
rs193922394
|
0.01648
|
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
|
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln)
|
rs77524207
|
0.01633
|
|
NM_006208.3(ENPP1):c.-13G>A
|
rs535293574
|
0.01629
|
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
|
NM_000552.5(VWF):c.5049A>C (p.Ala1683=)
|
rs79275181
|
0.01607
|
|
NM_022356.4(P3H1):c.1284C>T (p.Ile428=)
|
rs61746642
|
0.01592
|
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
|
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)
|
rs118191062
|
0.01583
|
|
NM_022356.4(P3H1):c.1026C>T (p.Ala342=)
|
rs61100157
|
0.01581
|
|
NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=)
|
rs41265019
|
0.01581
|
|
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)
|
rs8192556
|
0.01580
|
|
NM_022356.4(P3H1):c.1569+3A>G
|
rs76871760
|
0.01579
|
|
NM_022356.4(P3H1):c.1812C>T (p.Pro604=)
|
rs34809608
|
0.01577
|
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
|
NM_005912.3(MC4R):c.307G>A (p.Val103Ile)
|
rs2229616
|
0.01533
|
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
|
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)
|
rs34589386
|
0.01503
|
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
|
NM_000030.3(AGXT):c.705G>A (p.Thr235=)
|
rs35977912
|
0.01476
|
|
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01472
|
|
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His)
|
rs72657371
|
0.01466
|
|
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202
|
0.01463
|
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
|
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=)
|
rs72657372
|
0.01452
|
|
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=)
|
rs41299210
|
0.01449
|
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
|
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)
|
rs116297894
|
0.01425
|
|
NM_003235.5(TG):c.353C>T (p.Pro118Leu)
|
rs114322847
|
0.01424
|
|
NM_006059.4(LAMC3):c.-2C>T
|
rs137883250
|
0.01424
|
|
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr)
|
rs9904366
|
0.01403
|
|
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)
|
rs61748814
|
0.01397
|
|
NM_004560.4(ROR2):c.75G>A (p.Leu25=)
|
rs148237260
|
0.01389
|
|
NM_005612.5(REST):c.2443C>T (p.Pro815Ser)
|
rs114282228
|
0.01389
|
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
|
NM_000321.3(RB1):c.2212-16T>A
|
rs201258424
|
0.01386
|
|
NM_007294.4(BRCA1):c.*36C>G
|
rs3092995
|
0.01385
|
|
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)
|
rs1801158
|
0.01380
|
|
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val)
|
rs2230723
|
0.01376
|
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
|
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)
|
rs118174674
|
0.01368
|
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
|
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)
|
rs73302197
|
0.01361
|
|
NM_006885.4(ZFHX3):c.6156G>A (p.Pro2052=)
|
rs148383343
|
0.01359
|
|
NM_014249.4(NR2E3):c.505C>T (p.Leu169=)
|
rs1805022
|
0.01351
|
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
|
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=)
|
rs147536061
|
0.01340
|
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
|
NM_001277115.2(DNAH11):c.6683+13C>G
|
rs17145077
|
0.01337
|
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
|
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)
|
rs41273523
|
0.01332
|
|
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser)
|
rs34230288
|
0.01330
|
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
|
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)
|
rs4369876
|
0.01322
|
|
NM_018249.6(CDK5RAP2):c.880-7A>G
|
rs76132121
|
0.01314
|
|
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)
|
rs35887327
|
0.01309
|
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
|
NM_006883.2(SHOX):c.653G>A (p.Arg218His)
|
rs193072890
|
0.01306
|
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
|
NM_000136.3(FANCC):c.686+30C>T
|
rs1800363
|
0.01287
|
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
|
NM_020247.5(COQ8A):c.63G>A (p.Ala21=)
|
rs11549709
|
0.01280
|
|
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)
|
rs13027659
|
0.01279
|
|
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)
|
rs140578009
|
0.01275
|
|
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)
|
rs149861153
|
0.01269
|
|
NM_016106.4(SCFD1):c.1297A>G (p.Thr433Ala)
|
rs61754285
|
0.01266
|
|
NM_001277115.2(DNAH11):c.9102+8G>A
|
rs72657374
|
0.01255
|
|
NM_001161748.2(LIM2):c.231C>T (p.Ser77=)
|
rs8111243
|
0.01252
|
|
NM_022356.4(P3H1):c.978C>T (p.Thr326=)
|
rs74070022
|
0.01251
|
|
NM_213599.3(ANO5):c.*1328C>T
|
rs78089375
|
0.01250
|
|
NM_213599.3(ANO5):c.-261A>C
|
rs114897158
|
0.01250
|
|
NM_213599.3(ANO5):c.*1661C>T
|
rs12284506
|
0.01249
|
|
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser)
|
rs149903512
|
0.01248
|
|
NM_001127649.3(PEX26):c.*10C>T
|
rs117472525
|
0.01244
|
|
NM_000383.4(AIRE):c.652+14C>T
|
rs41277546
|
0.01242
|
|
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)
|
rs33978901
|
0.01237
|
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
|
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu)
|
rs148429731
|
0.01214
|
|
NM_138422.4(ADAT3):c.548C>T (p.Thr183Met)
|
rs139117131
|
0.01214
|
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
|
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser)
|
rs111527738
|
0.01206
|
|
NM_001377.3(DYNC2H1):c.195+7T>C
|
rs112718117
|
0.01205
|
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
|
NM_003235.5(TG):c.1958G>A (p.Gly653Asp)
|
rs2069548
|
0.01198
|
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01194
|
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
|
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser)
|
rs143316414
|
0.01192
|
|
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)
|
rs61729223
|
0.01181
|
|
NM_007208.4(MRPL3):c.782T>C (p.Met261Thr)
|
rs2291381
|
0.01180
|
|
NM_000081.4(LYST):c.9C>T (p.Thr3=)
|
rs33998267
|
0.01172
|
|
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser)
|
rs17883718
|
0.01172
|
|
NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)
|
rs35865357
|
0.01156
|
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01154
|
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
|
NM_002386.4(MC1R):c.880G>C (p.Asp294His)
|
rs1805009
|
0.01121
|
|
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg)
|
rs144717489
|
0.01113
|
|
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
|
rs5352
|
0.01109
|
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
|
NM_022356.4(P3H1):c.1233G>A (p.Arg411=)
|
rs61746653
|
0.01103
|
|
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)
|
rs115466046
|
0.01096
|
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
|
NM_001271696.3(ABCB7):c.246+1G>A
|
rs61323727
|
0.01077
|
|
NM_130797.4(DPP6):c.227A>T (p.Asp76Val)
|
rs572667303
|
0.01073
|
|
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)
|
rs78039319
|
0.01071
|
|
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=)
|
rs76224028
|
0.01067
|
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
|
NM_001429.4(EP300):c.2019T>C (p.Pro673=)
|
rs2230110
|
0.01054
|
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
|
NM_000036.3(AMPD1):c.1224+8G>A
|
rs140176911
|
0.01045
|
|
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)
|
rs76576806
|
0.01043
|
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
|
NM_001305581.2(LRMDA):c.132-253012del
|
rs146123023
|
0.01042
|
|
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)
|
rs76299266
|
0.01042
|
|
NM_000027.4(AGA):c.622+13T>C
|
rs75260482
|
0.01039
|
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
|
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr)
|
rs104894767
|
0.01035
|
|
NM_177438.3(DICER1):c.-45-4405C>T
|
rs140969547
|
0.01032
|
|
NM_000352.6(ABCC8):c.2538C>T (p.His846=)
|
rs73423037
|
0.01028
|
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
|
NM_004006.3(DMD):c.31+36949C>T
|
rs182597890
|
0.01020
|
|
NM_021155.4(CD209):c.642G>C (p.Glu214Asp)
|
rs11465377
|
0.01020
|
|
NM_007294.4(BRCA1):c.5406+68T>C
|
rs8176307
|
0.01019
|
|
NM_000352.6(ABCC8):c.423G>A (p.Val141=)
|
rs116132921
|
0.01009
|
|
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys)
|
rs571655
|
0.01009
|
|
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)
|
rs146917730
|
0.01006
|
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
|
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)
|
rs117685875
|
0.01001
|
|
NM_000136.3(FANCC):c.-155A>C
|
rs549658720
|
0.00998
|
|
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)
|
rs61755434
|
0.00997
|
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
|
NM_000410.4(HFE):c.*991C>T
|
rs148307737
|
0.00982
|
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
|
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)
|
rs35010099
|
0.00978
|
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00971
|
|
NM_019032.6(ADAMTSL4):c.2121G>A (p.Ala707=)
|
rs41317525
|
0.00968
|
|
NM_000527.5(LDLR):c.90C>T (p.Asn30=)
|
rs72658855
|
0.00965
|
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
|
NM_000157.3(GBA1):c.-203A>G
|
rs188978150
|
0.00961
|
|
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)
|
rs35007621
|
0.00961
|
|
NM_005666.4(CFHR2):c.595G>T (p.Glu199Ter)
|
rs41257904
|
0.00960
|
|
NM_005876.5(SPEG):c.116T>C (p.Val39Ala)
|
rs565137573
|
0.00953
|
|
NM_000348.4(SRD5A2):c.*43G>A
|
rs28383082
|
0.00951
|
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
|
NM_005243.4(EWSR1):c.1393G>A (p.Gly465Ser)
|
rs41311143
|
0.00947
|
|
NM_016373.4(WWOX):c.885G>A (p.Arg295=)
|
rs79771882
|
0.00946
|
|
NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
|
NM_033100.4(CDHR1):c.240C>T (p.Val80=)
|
rs11593005
|
0.00943
|
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
|
NM_139343.3(BIN1):c.1263+11C>T
|
rs78967885
|
0.00935
|
|
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly)
|
rs139436396
|
0.00934
|
|
NM_024596.5(MCPH1):c.2453-14C>T
|
rs17077744
|
0.00931
|
|
NM_000642.3(AGL):c.*2058G>A
|
rs12117747
|
0.00930
|
|
NM_000027.4(AGA):c.1023A>G (p.Glu341=)
|
rs113407270
|
0.00929
|
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
|
NM_021939.4(FKBP10):c.917+53G>T
|
rs141387386
|
0.00927
|
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
|
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)
|
rs2230180
|
0.00920
|
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
|
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter)
|
rs116711473
|
0.00908
|
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
|
NM_000374.5(UROD):c.*3G>A
|
rs74349352
|
0.00902
|
|
NM_025152.3(NUBPL):c.*736C>G
|
rs111321293
|
0.00901
|
|
NM_181078.3(IL21R):c.-17+563G>A
|
rs117535117
|
0.00901
|
|
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=)
|
rs6089898
|
0.00898
|
|
NM_001277115.2(DNAH11):c.4455A>G (p.Leu1485=)
|
rs79119693
|
0.00895
|
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
|
NM_000023.4(SGCA):c.*134del
|
rs201486782
|
0.00891
|
|
UGT1A1*6
|
rs4148323
|
0.00891
|
|
NM_000310.4(PPT1):c.*3C>A
|
rs150454815
|
0.00889
|
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
|
NM_004268.5(MED17):c.1071T>A (p.Phe357Leu)
|
rs35313315
|
0.00877
|
|
NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile)
|
rs139105452
|
0.00876
|
|
NM_000243.3(MEFV):c.1261-11T>G
|
rs77086855
|
0.00875
|
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
|
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)
|
rs77010315
|
0.00869
|
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
|
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln)
|
rs115799619
|
0.00868
|
|
NM_001375808.2(LPIN2):c.*438C>T
|
rs150379164
|
0.00868
|
|
NM_004278.4(PIGL):c.*254T>C
|
rs144070256
|
0.00867
|
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
|
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)
|
rs138055271
|
0.00862
|
|
NM_018249.6(CDK5RAP2):c.307-4G>A
|
rs7030969
|
0.00860
|
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
|
NM_000059.4(BRCA2):c.7806-40A>G
|
rs9590939
|
0.00858
|
|
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)
|
rs34049451
|
0.00854
|
|
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)
|
rs34799090
|
0.00854
|
|
NM_000404.4(GLB1):c.*319G>A
|
rs139730198
|
0.00851
|
|
NM_012463.4(ATP6V0A2):c.*2875A>C
|
rs149741581
|
0.00851
|
|
NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp)
|
rs77587352
|
0.00850
|
|
NM_001510.4(GRID2):c.1203T>C (p.Leu401=)
|
rs80091080
|
0.00850
|
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
|
NM_000546.6(TP53):c.*1175A>C
|
rs78378222
|
0.00849
|
|
NM_001256545.2(MEGF10):c.609C>T (p.Cys203=)
|
rs113794264
|
0.00845
|
|
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)
|
rs141087261
|
0.00842
|
|
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr)
|
rs150884181
|
0.00842
|
|
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)
|
rs138047593
|
0.00841
|
|
NM_000383.4(AIRE):c.1279-18C>T
|
rs72650678
|
0.00839
|
|
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro)
|
rs464696
|
0.00839
|
|
NM_001429.4(EP300):c.2998-12G>A
|
rs115849119
|
0.00836
|
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
|
NM_033100.4(CDHR1):c.2041-15G>A
|
rs61867367
|
0.00830
|
|
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)
|
rs34179337
|
0.00827
|
|
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)
|
rs77289466
|
0.00827
|
|
NM_000687.4(AHCY):c.-34C>T
|
rs57344541
|
0.00825
|
|
NM_018136.5(ASPM):c.*158T>C
|
rs41265225
|
0.00824
|
|
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu)
|
rs760502262
|
0.00823
|
|
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe)
|
rs116727742
|
0.00819
|
|
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00817
|
|
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile)
|
rs114583297
|
0.00817
|
|
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met)
|
rs140447165
|
0.00815
|
|
NM_174936.4(PCSK9):c.141C>T (p.Ser47=)
|
rs28385701
|
0.00815
|
|
NM_024656.4(COLGALT1):c.273C>T (p.Asp91=)
|
rs118174667
|
0.00814
|
|
NM_001015877.2(PHF6):c.927C>T (p.Asp309=)
|
rs112199174
|
0.00809
|
|
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)
|
rs61732733
|
0.00809
|
|
NM_000100.3(CSTB):c.*355C>G
|
rs143062585
|
0.00808
|
|
NM_001382567.1(STIM1):c.1634+319G>A
|
rs118128831
|
0.00808
|
|
NM_004628.5(XPC):c.1001C>A (p.Pro334His)
|
rs74737358
|
0.00806
|
|
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)
|
rs5744760
|
0.00805
|
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
|
NM_000231.3(SGCG):c.*10G>A
|
rs139369964
|
0.00794
|
|
NM_024757.5(EHMT1):c.1369+9C>T
|
rs146125583
|
0.00794
|
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
|
NM_000237.3(LPL):c.-283G>T
|
rs80351041
|
0.00790
|
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
|
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
|
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)
|
rs75092434
|
0.00783
|
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
|
NM_001039958.2(MESP2):c.585A>G (p.Gly195=)
|
rs113636330
|
0.00779
|
|
NM_003119.4(SPG7):c.120G>A (p.Gly40=)
|
rs187330648
|
0.00779
|
|
NM_012309.5(SHANK2):c.1706G>A (p.Arg569His)
|
rs146580493
|
0.00779
|
|
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly)
|
rs16978578
|
0.00777
|
|
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro)
|
rs745695673
|
0.00775
|
|
NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser)
|
rs78302129
|
0.00774
|
|
NM_002113.3(CFHR1):c.790+1G>A
|
rs140799744
|
0.00774
|
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
|
NM_001277115.2(DNAH11):c.7812-18C>G
|
rs147865931
|
0.00771
|
|
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)
|
rs17089782
|
0.00771
|
|
NM_006363.6(SEC23B):c.1743+168A>G
|
rs111951711
|
0.00771
|
|
NM_001395413.1(POR):c.*51C>T
|
rs41302345
|
0.00770
|
|
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile)
|
rs61688134
|
0.00769
|
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
|
NM_003849.3(SUCLG1):c.-107A>G
|
rs140936198
|
0.00764
|
|
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter)
|
rs143140599
|
0.00764
|
|
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met)
|
rs75099879
|
0.00758
|
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
|
NM_001277115.2(DNAH11):c.5359T>C (p.Leu1787=)
|
rs75932225
|
0.00755
|
|
NM_001360.3(DHCR7):c.-195G>T
|
rs141057811
|
0.00755
|
|
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
|
rs112793292
|
0.00755
|
|
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)
|
rs77583146
|
0.00755
|
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
|
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
|
rs77208721
|
0.00751
|
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
|
NM_000231.3(SGCG):c.-6T>C
|
rs141771521
|
0.00749
|
|
NM_020921.4(NIN):c.5188T>C (p.Leu1730=)
|
rs61741547
|
0.00749
|
|
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)
|
rs61745086
|
0.00748
|
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
|
NM_001130987.2(DYSF):c.1380+6G>C
|
rs75796187
|
0.00745
|
|
NM_005631.5(SMO):c.808G>A (p.Val270Ile)
|
rs111694017
|
0.00740
|
|
NM_016292.3(TRAP1):c.1406G>A (p.Arg469His)
|
rs144787542
|
0.00740
|
|
NM_000552.5(VWF):c.2510C>A (p.Ala837Asp)
|
rs75645183
|
0.00739
|
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
|
NM_173477.5(USH1G):c.*680C>G
|
rs55744500
|
0.00734
|
|
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)
|
rs76464258
|
0.00733
|
|
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)
|
rs45464693
|
0.00730
|
|
NM_022168.4(IFIH1):c.1641+1G>C
|
rs35337543
|
0.00728
|
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
|
NM_001395413.1(POR):c.360C>T (p.Ala120=)
|
rs41299490
|
0.00719
|
|
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)
|
rs183531840
|
0.00717
|
|
NM_002273.4(KRT8):c.160T>C (p.Tyr54His)
|
rs57749775
|
0.00715
|
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
|
NM_001277115.2(DNAH11):c.7441-19A>G
|
rs10247099
|
0.00707
|
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
|
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro)
|
rs565885690
|
0.00707
|
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
|
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)
|
rs35369023
|
0.00706
|
|
NM_170754.4(TNS2):c.3352A>G (p.Thr1118Ala)
|
rs117152710
|
0.00706
|
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
|
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn)
|
rs115369710
|
0.00703
|
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
|
NM_000041.4(APOE):c.487C>T (p.Arg163Cys)
|
rs769455
|
0.00701
|
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
|
NM_003465.3(CHIT1):c.56-8C>T
|
rs116389839
|
0.00696
|
|
NM_014855.3(AP5Z1):c.*92G>A
|
rs112283999
|
0.00696
|
|
NM_016335.6(PRODH):c.650G>A (p.Arg217His)
|
rs148375080
|
0.00695
|
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
|
NM_001015877.2(PHF6):c.729+4A>G
|
rs188961105
|
0.00691
|
|
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)
|
rs62619919
|
0.00690
|
|
NM_014874.4(MFN2):c.957C>T (p.Gly319=)
|
rs41278632
|
0.00690
|
|
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His)
|
rs115480556
|
0.00689
|
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
|
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)
|
rs150895887
|
0.00683
|
|
NM_014336.5(AIPL1):c.642+14G>A
|
rs188779461
|
0.00682
|
|
NM_024867.4(SPEF2):c.3802-8G>A
|
rs138022749
|
0.00682
|
|
NM_001395413.1(POR):c.78G>A (p.Thr26=)
|
rs41295381
|
0.00681
|
|
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=)
|
rs77612903
|
0.00681
|
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
|
NM_000035.4(ALDOB):c.-214G>A
|
rs185972191
|
0.00678
|
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
|
NM_015466.4(PTPN23):c.3388G>A (p.Gly1130Ser)
|
rs138329311
|
0.00677
|
|
NM_001128228.3(TPRN):c.206G>A (p.Arg69Gln)
|
rs548415902
|
0.00676
|
|
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)
|
rs1110400
|
0.00675
|
|
NM_003465.3(CHIT1):c.1350C>T (p.Cys450=)
|
rs73066396
|
0.00675
|
|
NM_000037.4(ANK1):c.1590C>T (p.Ala530=)
|
rs61758865
|
0.00673
|
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
|
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln)
|
rs52822694
|
0.00673
|
|
NM_000637.5(GSR):c.595G>A (p.Ala199Thr)
|
rs141805635
|
0.00672
|
|
NM_001360.3(DHCR7):c.*226C>T
|
rs185557595
|
0.00672
|
|
NM_000350.3(ABCA4):c.*10C>A
|
rs145634012
|
0.00671
|
|
NM_004836.6(EIF2AK3):c.-201A>G
|
rs144057685
|
0.00671
|
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
|
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)
|
rs148768851
|
0.00669
|
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
|
NM_022124.6(CDH23):c.2337G>A (p.Lys779=)
|
rs111033461
|
0.00664
|
|
NM_022356.4(P3H1):c.-45C>T
|
rs183564323
|
0.00663
|
|
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)
|
rs139815570
|
0.00662
|
|
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=)
|
rs6236
|
0.00661
|
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
|
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)
|
rs12735723
|
0.00660
|
|
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=)
|
rs117297079
|
0.00657
|
|
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)
|
rs61749367
|
0.00656
|
|
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile)
|
rs115275492
|
0.00656
|
|
NM_015645.5(C1QTNF5):c.-2701G>A
|
rs883246
|
0.00656
|
|
NM_024867.4(SPEF2):c.1262G>A (p.Arg421His)
|
rs139580877
|
0.00656
|
|
NM_000059.4(BRCA2):c.5704G>A
|
rs4987048
|
0.00655
|
|
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg)
|
rs200367963
|
0.00653
|
|
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)
|
rs201355503
|
0.00651
|
|
NM_000453.3(SLC5A5):c.839+11C>T
|
rs182064161
|
0.00650
|
|
NM_001277115.2(DNAH11):c.7332G>A (p.Pro2444=)
|
rs28370951
|
0.00650
|
|
NM_000302.3(PLOD1):c.-77G>A
|
rs144465849
|
0.00649
|
|
NM_001384474.1(LOXHD1):c.1431+10G>T
|
rs57330753
|
0.00648
|
|
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)
|
rs55778349
|
0.00647
|
|
NM_032601.4(MCEE):c.102C>G (p.Pro34=)
|
rs146573280
|
0.00646
|
|
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)
|
rs147487242
|
0.00646
|
|
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)
|
rs149314387
|
0.00644
|
|
NM_014336.5(AIPL1):c.765T>C (p.Asp255=)
|
rs62637018
|
0.00643
|
|
NM_020451.3(SELENON):c.-14C>A
|
rs867555591
|
0.00642
|
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
|
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser)
|
rs114949291
|
0.00641
|
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
|
NM_001508.3(GPR39):c.1132G>A (p.Ala378Thr)
|
rs61735719
|
0.00640
|
|
NM_139125.4(MASP1):c.1090+2877G>A
|
rs113938200
|
0.00638
|
|
NM_003283.6(TNNT1):c.310-14T>C
|
rs115663668
|
0.00636
|
|
NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser)
|
rs117132825
|
0.00636
|
|
NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn)
|
rs144245019
|
0.00636
|
|
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)
|
rs142417583
|
0.00634
|
|
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)
|
rs146578303
|
0.00633
|
|
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)
|
rs117555121
|
0.00632
|
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
|
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter)
|
rs145035679
|
0.00631
|
|
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
|
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)
|
rs558770240
|
0.00630
|
|
NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro)
|
rs55852620
|
0.00629
|
|
NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val)
|
rs146385147
|
0.00628
|
|
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)
|
rs143736974
|
0.00628
|
|
NM_000453.3(SLC5A5):c.424-12C>A
|
rs142231563
|
0.00627
|
|
NM_199242.3(UNC13D):c.753+3G>A
|
rs116229331
|
0.00627
|
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
|
NM_001366057.1(OTUD4):c.3003T>A (p.Ala1001=)
|
rs147253069
|
0.00625
|
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
|
NM_017526.5(LEPROT):c.21C>T (p.Leu7=)
|
rs13306523
|
0.00623
|
|
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)
|
rs112613526
|
0.00622
|
|
NM_014297.5(ETHE1):c.-45G>A
|
rs144136377
|
0.00621
|
|
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=)
|
rs112828880
|
0.00620
|
|
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)
|
rs114354377
|
0.00619
|
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
|
NM_017841.4(SDHAF2):c.*12C>T
|
rs113652589
|
0.00617
|
|
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser)
|
rs73682656
|
0.00615
|
|
NM_172364.5(CACNA2D4):c.2109G>C (p.Glu703Asp)
|
rs77175207
|
0.00615
|
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
|
NM_152879.3(DGKD):c.2925G>A (p.Glu975=)
|
rs147134923
|
0.00614
|
|
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr)
|
rs61737514
|
0.00612
|
|
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
|
rs12720445
|
0.00612
|
|
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met)
|
rs114128928
|
0.00612
|
|
NM_004525.3(LRP2):c.923-6G>A
|
rs144147038
|
0.00611
|
|
NM_007254.4(PNKP):c.*15C>T
|
rs1050332
|
0.00609
|
|
NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
|
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)
|
rs35946774
|
0.00608
|
|
NM_001277115.2(DNAH11):c.1426-9T>C
|
rs72655983
|
0.00607
|
|
NM_000043.6(FAS):c.183G>A (p.Lys61=)
|
rs3218613
|
0.00606
|
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
|
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=)
|
rs144624858
|
0.00606
|
|
NM_000215.4(JAK3):c.*73T>C
|
rs149873298
|
0.00605
|
|
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)
|
rs61752920
|
0.00605
|
|
NM_017429.3(BCO1):c.1622G>A (p.Cys541Tyr)
|
rs141781255
|
0.00604
|
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
|
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)
|
rs141159831
|
0.00600
|
|
NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn)
|
rs56048322
|
0.00600
|
|
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg)
|
rs34830861
|
0.00599
|
|
NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met)
|
rs73946020
|
0.00599
|
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
|
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe)
|
rs141771795
|
0.00596
|
|
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)
|
rs117064287
|
0.00595
|
|
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)
|
rs59915619
|
0.00594
|
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
|
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)
|
rs45479896
|
0.00589
|
|
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)
|
rs114718913
|
0.00589
|
|
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)
|
rs78741041
|
0.00588
|
|
NM_000112.4(SLC26A2):c.*330G>T
|
rs191884433
|
0.00587
|
|
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512
|
0.00587
|
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
|
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe)
|
rs140398533
|
0.00585
|
|
NM_198576.4(AGRN):c.67G>C (p.Val23Leu)
|
rs201073369
|
0.00583
|
|
NM_000249.4(MLH1):c.589-15C>T
|
rs55658850
|
0.00582
|
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00581
|
|
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)
|
rs150724610
|
0.00580
|
|
NM_000070.3(CAPN3):c.2381-12A>G
|
rs73402734
|
0.00578
|
|
NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His)
|
rs78847357
|
0.00577
|
|
NM_001256545.2(MEGF10):c.489C>T (p.Ile163=)
|
rs34649270
|
0.00577
|
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
|
NM_001032283.3(TMPO):c.565+2487C>T
|
rs17028450
|
0.00576
|
|
NM_020066.5(FMN2):c.883T>C (p.Ser295Pro)
|
rs201538863
|
0.00575
|
|
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)
|
rs111738042
|
0.00575
|
|
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala)
|
rs375934957
|
0.00574
|
|
NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr)
|
rs61752339
|
0.00574
|
|
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)
|
rs11569534
|
0.00573
|
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
|
NM_002471.4(MYH6):c.2579G>A (p.Arg860His)
|
rs115845031
|
0.00573
|
|
NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser)
|
rs571264557
|
0.00572
|
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
|
NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala)
|
rs147724093
|
0.00570
|
|
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val)
|
rs5029941
|
0.00569
|
|
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)
|
rs116621885
|
0.00569
|
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
|
NM_001395413.1(POR):c.1889+3G>A
|
rs41301439
|
0.00568
|
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
|
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)
|
rs138436961
|
0.00566
|
|
NM_000128.4(F11):c.731A>G (p.Gln244Arg)
|
rs5969
|
0.00564
|
|
NM_000384.3(APOB):c.10131G>A (p.Leu3377=)
|
rs1799812
|
0.00564
|
|
NM_004273.5(CHST3):c.417C>T (p.Ala139=)
|
rs144287889
|
0.00564
|
|
NM_000515.5(GH1):c.406G>A (p.Val136Ile)
|
rs5388
|
0.00560
|
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
|
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=)
|
rs79439293
|
0.00558
|
|
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)
|
rs140734968
|
0.00558
|
|
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=)
|
rs149148763
|
0.00557
|
|
NM_000243.3(MEFV):c.1587+33C>G
|
rs146820856
|
0.00556
|
|
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr)
|
rs149601594
|
0.00556
|
|
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly)
|
rs142404759
|
0.00555
|
|
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=)
|
rs78599571
|
0.00555
|
|
NM_000384.3(APOB):c.905-15C>G
|
rs72653061
|
0.00554
|
|
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu)
|
rs1805006
|
0.00553
|
|
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp)
|
rs55840049
|
0.00551
|
|
NM_001145308.4(LRTOMT):c.-602G>A
|
rs111537544
|
0.00551
|
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
|
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)
|
rs34532796
|
0.00550
|
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
|
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu)
|
rs150515843
|
0.00548
|
|
NM_001378373.1(MBL2):c.*1694G>T
|
rs35327474
|
0.00547
|
|
FIBRINOGEN PARIS 1
|
rs2066862
|
0.00546
|
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
|
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)
|
rs79627159
|
0.00546
|
|
NM_000018.3(ACADVL):c.-64T>C
|
rs77051465
|
0.00545
|
|
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)
|
rs11554495
|
0.00545
|
|
NM_024740.2(ALG9):c.1383C>T (p.Thr461=)
|
rs45516107
|
0.00545
|
|
NM_000085.5(CLCNKB):c.1297+5G>T
|
rs35351345
|
0.00544
|
|
NM_001127644.2(GABRA1):c.-16+8C>A
|
rs138671319
|
0.00544
|
|
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)
|
rs139078629
|
0.00542
|
|
NM_001048174.2(MUTYH):c.421-4A>G
|
rs201678305
|
0.00541
|
|
NM_004318.4(ASPH):c.518del (p.Asp173fs)
|
rs80163539
|
0.00541
|
|
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val)
|
rs147376000
|
0.00541
|
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
|
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp)
|
rs116535684
|
0.00539
|
|
NM_001308093.3(GATA4):c.912+25G>A
|
rs147860174
|
0.00539
|
|
NM_004273.5(CHST3):c.1347C>T (p.Arg449=)
|
rs200249458
|
0.00538
|
|
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys)
|
rs149842031
|
0.00537
|
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
|
NM_000439.5(PCSK1):c.397-10T>C
|
rs142423997
|
0.00535
|
|
NM_003124.5(SPR):c.112G>A (p.Val38Ile)
|
rs146099322
|
0.00535
|
|
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)
|
rs115681466
|
0.00535
|
|
NM_001256715.2(DNAAF3):c.323-4del
|
rs201986299
|
0.00533
|
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
|
NM_000374.5(UROD):c.952G>A (p.Gly318Arg)
|
rs116233118
|
0.00531
|
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
|
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)
|
rs61742739
|
0.00531
|
|
NM_006236.3(POU3F3):c.549C>T (p.His183=)
|
rs993106557
|
0.00531
|
|
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser)
|
rs41312157
|
0.00531
|
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00528
|
|
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)
|
rs78239814
|
0.00525
|
|
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)
|
rs72655977
|
0.00522
|
|
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)
|
rs62073570
|
0.00522
|
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
|
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)
|
rs16980929
|
0.00520
|
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
|
NM_000562.3(C8A):c.856-12G>A
|
rs74075638
|
0.00519
|
|
NM_003172.4(SURF1):c.604G>C (p.Asp202His)
|
rs72619327
|
0.00517
|
|
NM_138694.4(PKHD1):c.1964+17G>T
|
rs201349527
|
0.00517
|
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
|
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)
|
rs45559331
|
0.00516
|
|
NM_000410.4(HFE):c.1026C>T (p.Tyr342=)
|
rs35201683
|
0.00515
|
|
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)
|
rs115913736
|
0.00515
|
|
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)
|
rs45589337
|
0.00513
|
|
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile)
|
rs35578974
|
0.00512
|
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
|
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)
|
rs121917710
|
0.00511
|
|
NM_000273.3(GPR143):c.250+11G>C
|
rs375563631
|
0.00511
|
|
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser)
|
rs116690692
|
0.00511
|
|
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)
|
rs114745089
|
0.00511
|
|
NM_001206744.2(TPO):c.2387-12T>C
|
rs28912997
|
0.00509
|
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
|
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)
|
rs112463030
|
0.00507
|
|
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg)
|
rs587784500
|
0.00507
|
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
|
NM_001082.5(CYP4F2):c.648-7C>A
|
rs3093221
|
0.00504
|
|
NM_016203.4(PRKAG2):c.-322T>C
|
rs142348760
|
0.00504
|
|
NM_016203.4(PRKAG2):c.-40C>T
|
rs148715621
|
0.00503
|
|
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr)
|
rs2232078
|
0.00503
|
|
NM_004268.5(MED17):c.690C>T (p.Leu230=)
|
rs116727804
|
0.00502
|
|
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)
|
rs112551069
|
0.00501
|
|
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro)
|
rs145477191
|
0.00501
|
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
|
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)
|
rs5346
|
0.00500
|
|
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)
|
rs41297883
|
0.00500
|
|
NM_139343.3(BIN1):c.1132-7T>C
|
rs115938552
|
0.00498
|
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
|
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His)
|
rs2307293
|
0.00496
|
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
|
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr)
|
rs45441199
|
0.00494
|
|
NM_001277115.2(DNAH11):c.1535T>A (p.Met512Lys)
|
rs72655984
|
0.00494
|
|
NM_001256545.2(MEGF10):c.2757C>T (p.Asn919=)
|
rs36061366
|
0.00492
|
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
|
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=)
|
rs372634401
|
0.00490
|
|
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg)
|
rs188840960
|
0.00490
|
|
NM_000377.3(WAS):c.995T>C (p.Val332Ala)
|
rs2737799
|
0.00489
|
|
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)
|
rs145807417
|
0.00488
|
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
|
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)
|
rs79544660
|
0.00488
|
|
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)
|
rs111291014
|
0.00488
|
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
|
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser)
|
rs192628905
|
0.00486
|
|
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)
|
rs115958467
|
0.00486
|
|
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)
|
rs115330112
|
0.00485
|
|
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)
|
rs28362261
|
0.00485
|
|
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)
|
rs11466047
|
0.00484
|
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
|
NM_016292.3(TRAP1):c.1330T>A (p.Tyr444Asn)
|
rs61756351
|
0.00483
|
|
NM_001378454.1(ALMS1):c.11872+18G>A
|
rs139647347
|
0.00482
|
|
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=)
|
rs181591912
|
0.00482
|
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
|
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)
|
rs35176378
|
0.00480
|
|
NM_004273.5(CHST3):c.561G>C (p.Val187=)
|
rs147804585
|
0.00480
|
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
|
NM_001130987.2(DYSF):c.2980-15C>T
|
rs148732505
|
0.00477
|
|
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)
|
rs111315726
|
0.00476
|
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
|
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)
|
rs1801710
|
0.00475
|
|
NM_003235.5(TG):c.7755-9T>G
|
rs190979363
|
0.00473
|
|
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)
|
rs149637884
|
0.00473
|
|
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp)
|
rs201829917
|
0.00472
|
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
|
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)
|
rs62346982
|
0.00470
|
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
|
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)
|
rs2985688
|
0.00470
|
|
NM_001277115.2(DNAH11):c.6468+14T>C
|
rs114409690
|
0.00469
|
|
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser)
|
rs74882337
|
0.00469
|
|
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)
|
rs113803159
|
0.00468
|
|
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=)
|
rs139219896
|
0.00468
|
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
|
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=)
|
rs117516263
|
0.00465
|
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
|
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)
|
rs151098394
|
0.00465
|
|
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)
|
rs148869805
|
0.00464
|
|
NM_001130987.2(DYSF):c.777C>T (p.Ile259=)
|
rs138054675
|
0.00464
|
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
|
NM_016335.6(PRODH):c.865T>A (p.Leu289Met)
|
rs137852934
|
0.00464
|
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
|
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=)
|
rs59933498
|
0.00463
|
|
NM_001395413.1(POR):c.508-4G>A
|
rs41299496
|
0.00462
|
|
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)
|
rs55862001
|
0.00462
|
|
NM_001277115.2(DNAH11):c.4501-7A>T
|
rs62447794
|
0.00461
|
|
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)
|
rs140374206
|
0.00461
|
|
NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)
|
rs34595252
|
0.00461
|
|
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)
|
rs61739895
|
0.00460
|
|
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)
|
rs75639119
|
0.00460
|
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
|
NM_032816.5(CEP89):c.1927A>G (p.Ser643Gly)
|
rs142812224
|
0.00460
|
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
|
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser)
|
rs78690642
|
0.00459
|
|
NM_000638.4(VTN):c.377A>T (p.Glu126Val)
|
rs112887300
|
0.00458
|
|
NM_014336.5(AIPL1):c.97-9G>A
|
rs140124986
|
0.00457
|
|
NM_003322.6(TULP1):c.1341G>A (p.Leu447=)
|
rs61734562
|
0.00456
|
|
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)
|
rs117336941
|
0.00456
|
|
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr)
|
rs150797491
|
0.00455
|
|
NM_006567.5(FARS2):c.737C>T (p.Thr246Met)
|
rs116567033
|
0.00455
|
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
|
NM_000027.4(AGA):c.60A>G (p.Leu20=)
|
rs114918706
|
0.00453
|
|
NM_017636.4(TRPM4):c.755G>A (p.Arg252His)
|
rs146564314
|
0.00453
|
|
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu)
|
rs116012798
|
0.00451
|
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
|
NM_001199267.2(DGKZ):c.2660C>G (p.Thr887Arg)
|
rs76583617
|
0.00449
|
|
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)
|
rs72657379
|
0.00449
|
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
|
NM_000350.3(ABCA4):c.*136G>A
|
rs55665437
|
0.00448
|
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
|
NM_000246.4(CIITA):c.-84C>T
|
rs45519531
|
0.00447
|
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
|
NM_031372.4(HNRNPDL):c.125T>C (p.Leu42Pro)
|
rs61729823
|
0.00443
|
|
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)
|
rs143417446
|
0.00443
|
|
NM_014000.3(VCL):c.1317T>C (p.Ser439=)
|
rs71579355
|
0.00442
|
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
|
NM_002234.4(KCNA5):c.615G>C (p.Leu205=)
|
rs12720443
|
0.00441
|
|
NM_032588.4(TRIM63):c.*2G>A
|
rs77965623
|
0.00441
|
|
NM_000412.5(HRG):c.1306G>A (p.Gly436Arg)
|
rs2229331
|
0.00440
|
|
NM_002768.5(CHMP1A):c.210C>T (p.Asp70=)
|
rs114931496
|
0.00440
|
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
|
NM_006306.4(SMC1A):c.*14C>T
|
rs112727682
|
0.00436
|
|
NM_002693.3(POLG):c.-80C>T
|
rs3087378
|
0.00435
|
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
|
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu)
|
rs55882518
|
0.00433
|
|
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)
|
rs76750525
|
0.00433
|
|
NM_001128228.3(TPRN):c.533C>T (p.Ala178Val)
|
rs971592946
|
0.00433
|
|
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)
|
rs138732899
|
0.00433
|
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
|
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)
|
rs145526996
|
0.00431
|
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
|
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)
|
rs142993240
|
0.00430
|
|
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)
|
rs58093963
|
0.00429
|
|
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)
|
rs41295338
|
0.00428
|
|
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)
|
rs138259457
|
0.00428
|
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
|
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)
|
rs72657373
|
0.00428
|
|
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)
|
rs141893504
|
0.00428
|
|
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)
|
rs146737847
|
0.00428
|
|
NM_001367805.3(KIF23):c.293A>G (p.Asn98Ser)
|
rs61751120
|
0.00427
|
|
NM_003465.3(CHIT1):c.1161T>C (p.Leu387=)
|
rs73066400
|
0.00427
|
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
|
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)
|
rs114518437
|
0.00425
|
|
NM_001002294.3(FMO3):c.1084G>C (p.Glu362Gln)
|
rs2066532
|
0.00425
|
|
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)
|
rs74315344
|
0.00425
|
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
|
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)
|
rs34133563
|
0.00424
|
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
|
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=)
|
rs61758866
|
0.00422
|
|
NM_032581.4(HYCC1):c.1492A>G (p.Thr498Ala)
|
rs143894913
|
0.00421
|
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
|
NM_005763.4(AASS):c.2459A>G (p.Lys820Arg)
|
rs73441002
|
0.00420
|
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
|
NM_001277115.2(DNAH11):c.8478C>T (p.His2826=)
|
rs62445328
|
0.00419
|
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
|
NM_020366.4(RPGRIP1):c.930+3A>G
|
rs150107283
|
0.00419
|
|
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe)
|
rs114280473
|
0.00417
|
|
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=)
|
rs139340058
|
0.00417
|
|
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp)
|
rs142105943
|
0.00417
|
|
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=)
|
rs142331907
|
0.00417
|
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
|
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)
|
rs150547487
|
0.00416
|
|
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)
|
rs61755770
|
0.00414
|
|
NM_002101.5(GYPC):c.248A>G (p.Tyr83Cys)
|
rs115178969
|
0.00413
|
|
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=)
|
rs182293382
|
0.00413
|
|
NM_007027.4(TOPBP1):c.3371+9C>T
|
rs138529143
|
0.00411
|
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
|
NM_001395656.1(ROBO2):c.2443C>T (p.Arg815Trp)
|
rs188582283
|
0.00410
|
|
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His)
|
rs117843717
|
0.00410
|
|
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
|
rs138886378
|
0.00409
|
|
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=)
|
rs34030828
|
0.00408
|
|
NM_000037.4(ANK1):c.1506C>T (p.Ala502=)
|
rs34387324
|
0.00407
|
|
NM_004870.4(MPDU1):c.618+14C>T
|
rs11078699
|
0.00407
|
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
|
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)
|
rs56314834
|
0.00406
|
|
NM_001378778.1(MPDZ):c.2580A>G (p.Leu860=)
|
rs34704118
|
0.00406
|
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
|
NM_002439.5(MSH3):c.2254-19T>G
|
rs41562717
|
0.00405
|
|
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)
|
rs147967974
|
0.00405
|
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
|
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)
|
rs74162061
|
0.00404
|
|
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)
|
rs112454391
|
0.00404
|
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
|
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys)
|
rs112618498
|
0.00404
|
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
|
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser)
|
rs56098093
|
0.00404
|
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
|
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)
|
rs137876961
|
0.00404
|
|
NM_139343.3(BIN1):c.888C>T (p.Ser296=)
|
rs114833236
|
0.00403
|
|
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)
|
rs75817442
|
0.00402
|
|
NM_001277115.2(DNAH11):c.2380G>A (p.Glu794Lys)
|
rs78653098
|
0.00401
|
|
NM_000552.5(VWF):c.5170+10C>T
|
rs61750601
|
0.00400
|
|
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg)
|
rs201621696
|
0.00400
|
|
NM_001916.5(CYC1):c.227T>C (p.Met76Thr)
|
rs144257411
|
0.00400
|
|
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)
|
rs113301033
|
0.00400
|
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
|
NM_001277115.2(DNAH11):c.13050-15C>T
|
rs149634292
|
0.00399
|
|
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)
|
rs2233218
|
0.00399
|
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
|
NM_000507.4(FBP1):c.237C>T (p.Asn79=)
|
rs201591116
|
0.00398
|
|
NM_000515.5(GH1):c.150C>A (p.Ala50=)
|
rs61735359
|
0.00398
|
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
|
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln)
|
rs141750466
|
0.00398
|
|
NM_003465.3(CHIT1):c.780G>A (p.Leu260=)
|
rs145366738
|
0.00397
|
|
NM_004273.5(CHST3):c.828C>T (p.Arg276=)
|
rs140547825
|
0.00397
|
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
|
NM_003465.3(CHIT1):c.759G>A (p.Lys253=)
|
rs138767766
|
0.00396
|
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
|
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu)
|
rs111327589
|
0.00395
|
|
NM_000030.3(AGXT):c.976G>A (p.Val326Ile)
|
rs115057148
|
0.00394
|
|
NM_000081.4(LYST):c.1686G>C (p.Gln562His)
|
rs77091385
|
0.00394
|
|
NM_000280.4(PAX6):c.*3670C>T
|
rs149777109
|
0.00394
|
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
|
NM_001134363.3(RBM20):c.1275+13A>G
|
rs373230569
|
0.00392
|
|
NM_015665.6(AAAS):c.679T>C (p.Leu227=)
|
rs80027466
|
0.00392
|
|
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)
|
rs141245482
|
0.00392
|
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
|
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
|
rs45608240
|
0.00391
|
|
NM_000020.3(ACVRL1):c.-52G>A
|
rs573048639
|
0.00390
|
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
|
NM_000130.5(F5):c.3845A>G (p.His1282Arg)
|
rs143333036
|
0.00389
|
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
|
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys)
|
rs41276187
|
0.00389
|
|
NM_017636.4(TRPM4):c.870C>T (p.Asn290=)
|
rs141997826
|
0.00389
|
|
NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr)
|
rs17222632
|
0.00388
|
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
|
NM_006899.5(IDH3B):c.117+6C>A
|
rs191680997
|
0.00388
|
|
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)
|
rs79901179
|
0.00388
|
|
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)
|
rs6207
|
0.00387
|
|
NM_001042492.3(NF1):c.3198-4T>C
|
rs587782218
|
0.00387
|
|
NM_001378373.1(MBL2):c.*2450A>T
|
rs56325023
|
0.00387
|
|
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala)
|
rs2234916
|
0.00387
|
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
|
NM_003465.3(CHIT1):c.422A>C (p.Tyr141Ser)
|
rs183706407
|
0.00386
|
|
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)
|
rs121909293
|
0.00386
|
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
|
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln)
|
rs113448164
|
0.00384
|
|
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp)
|
rs41303495
|
0.00384
|
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
|
NM_138959.3(VANGL1):c.*3608C>T
|
rs555833838
|
0.00381
|
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
|
NM_001625.4(AK2):c.386G>A (p.Ser129Asn)
|
rs61750965
|
0.00379
|
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
|
NM_000037.4(ANK1):c.2403G>A (p.Lys801=)
|
rs147130318
|
0.00376
|
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
|
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys)
|
rs45466595
|
0.00376
|
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
|
NM_000037.4(ANK1):c.2735+10G>A
|
rs75296105
|
0.00374
|
|
NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu)
|
rs6413500
|
0.00374
|
|
NM_000843.4(GRM6):c.504+20G>C
|
rs572890701
|
0.00374
|
|
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=)
|
rs150548640
|
0.00374
|
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
|
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser)
|
rs41281674
|
0.00373
|
|
NM_000145.4(FSHR):c.485G>A (p.Arg162Lys)
|
rs111883853
|
0.00372
|
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
|
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
|
rs144511230
|
0.00372
|
|
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)
|
rs150190277
|
0.00372
|
|
NM_000190.4(HMBS):c.-28A>C
|
rs201349602
|
0.00371
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insC
|
rs201170241
|
0.00371
|
|
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)
|
rs36078464
|
0.00371
|
|
NM_177986.5(DSG4):c.1933+12A>G
|
rs117592021
|
0.00370
|
|
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu)
|
rs61733901
|
0.00369
|
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
|
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr)
|
rs34731820
|
0.00369
|
|
NM_001134363.3(RBM20):c.3452-10C>T
|
rs60618533
|
0.00369
|
|
NM_002465.4(MYBPC1):c.129C>T (p.Ser43=)
|
rs138170393
|
0.00369
|
|
NM_002234.4(KCNA5):c.570C>T (p.Asn190=)
|
rs12720444
|
0.00368
|
|
NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe)
|
rs147096750
|
0.00367
|
|
NM_001291303.3(FAT4):c.2811G>T (p.Lys937Asn)
|
rs112454576
|
0.00367
|
|
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)
|
rs116466258
|
0.00367
|
|
NM_001045.6(SLC6A4):c.705C>T (p.His235=)
|
rs41274284
|
0.00366
|
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
|
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)
|
rs142881106
|
0.00365
|
|
NM_130797.4(DPP6):c.627+21101A>G
|
rs117574002
|
0.00365
|
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
|
NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu)
|
rs139972217
|
0.00364
|
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
|
NM_001164508.2(NEB):c.1413C>T (p.Phe471=)
|
rs112958786
|
0.00363
|
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
|
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=)
|
rs150055592
|
0.00362
|
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
|
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)
|
rs9282671
|
0.00362
|
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
|
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)
|
rs144020613
|
0.00362
|
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
|
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=)
|
rs187489343
|
0.00361
|
|
NM_001394062.1(MACF1):c.3450G>A (p.Lys1150=)
|
rs147586507
|
0.00361
|
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
|
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=)
|
rs141724499
|
0.00360
|
|
NM_031272.5(TEX14):c.709C>G (p.Gln237Glu)
|
rs35551271
|
0.00360
|
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
|
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)
|
rs143179070
|
0.00358
|
|
NM_001040436.3(YARS2):c.1275-2dup
|
rs565781501
|
0.00357
|
|
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)
|
rs34491822
|
0.00357
|
|
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
|
rs150656720
|
0.00357
|
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
|
NM_001453.3(FOXC1):c.*734A>T
|
rs35717904
|
0.00356
|
|
NM_052813.5(CARD9):c.809A>T (p.Glu270Val)
|
rs114895119
|
0.00356
|
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
|
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu)
|
rs17222561
|
0.00355
|
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
|
NM_002769.5(PRSS1):c.592-24C>T
|
rs192452846
|
0.00354
|
|
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys)
|
rs114647348
|
0.00354
|
|
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)
|
rs25409
|
0.00354
|
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
|
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu)
|
rs2233061
|
0.00353
|
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
|
NM_001199.4(BMP1):c.2161C>T (p.Arg721Ter)
|
rs116360985
|
0.00352
|
|
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)
|
rs9282543
|
0.00352
|
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
|
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=)
|
rs115030299
|
0.00351
|
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
|
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln)
|
rs145993158
|
0.00351
|
|
NM_024876.4(COQ8B):c.187C>T (p.Arg63Trp)
|
rs113358395
|
0.00351
|
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
|
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val)
|
rs79135870
|
0.00350
|
|
NM_015175.3(NBEAL2):c.4485-8C>T
|
rs145760682
|
0.00350
|
|
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)
|
rs115246141
|
0.00350
|
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00349
|
|
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)
|
rs17027133
|
0.00349
|
|
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu)
|
rs201352230
|
0.00349
|
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
|
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met)
|
rs5350
|
0.00348
|
|
NM_012092.4(ICOS):c.58+9T>G
|
rs140049646
|
0.00348
|
|
NM_001098816.3(TENM4):c.2804C>G (p.Pro935Arg)
|
rs141706152
|
0.00347
|
|
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
|
NM_022124.6(CDH23):c.2954-14G>A
|
rs191534381
|
0.00347
|
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
|
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=)
|
rs144537241
|
0.00345
|
|
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu)
|
rs146076380
|
0.00345
|
|
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)
|
rs183218622
|
0.00344
|
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
|
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)
|
rs202082545
|
0.00344
|
|
NM_004281.4(BAG3):c.249C>A (p.His83Gln)
|
rs151331972
|
0.00344
|
|
NM_014249.4(NR2E3):c.349+8G>A
|
rs112520386
|
0.00344
|
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00343
|
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
|
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)
|
rs80132141
|
0.00343
|
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
|
NM_001165967.2(HES7):c.591C>T (p.Pro197=)
|
rs558811781
|
0.00342
|
|
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr)
|
rs181368820
|
0.00342
|
|
NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys)
|
rs137852607
|
0.00342
|
|
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)
|
rs114460450
|
0.00342
|
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
|
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His)
|
rs187956469
|
0.00341
|
|
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)
|
rs201687417
|
0.00341
|
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
|
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)
|
rs77208665
|
0.00340
|
|
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
|
rs5743277
|
0.00340
|
|
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)
|
rs56356283
|
0.00340
|
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
|
NM_006059.4(LAMC3):c.2891-8C>T
|
rs199535979
|
0.00339
|
|
NM_014236.4(GNPAT):c.555A>T (p.Ile185=)
|
rs34613633
|
0.00339
|
|
NC_000019.10:g.11089332C>T
|
rs17249141
|
0.00338
|
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
|
NM_174936.4(PCSK9):c.1354+9G>T
|
rs72646516
|
0.00337
|
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00336
|
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
|
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)
|
rs148934699
|
0.00336
|
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
|
NM_007315.4(STAT1):c.633+6T>A
|
rs45459703
|
0.00335
|
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
|
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)
|
rs150435442
|
0.00334
|
|
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro)
|
rs61731652
|
0.00334
|
|
NM_198407.2(GHSR):c.531C>A (p.Pro177=)
|
rs4988509
|
0.00334
|
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
|
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp)
|
rs138019311
|
0.00333
|
|
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu)
|
rs149403824
|
0.00333
|
|
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu)
|
rs112600265
|
0.00333
|
|
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)
|
rs149042427
|
0.00332
|
|
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser)
|
rs143983247
|
0.00332
|
|
NM_001372574.1(ATXN2):c.2526A>G (p.Val842=)
|
rs140262591
|
0.00332
|
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
|
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
|
rs138925964
|
0.00331
|
|
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)
|
rs142672241
|
0.00331
|
|
NM_001277115.2(DNAH11):c.4124G>A (p.Arg1375His)
|
rs151018293
|
0.00330
|
|
NM_001355436.2(SPTB):c.345T>C (p.Asn115=)
|
rs17180518
|
0.00330
|
|
NM_003235.5(TG):c.4484T>C (p.Val1495Ala)
|
rs61740825
|
0.00330
|
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
|
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)
|
rs74423119
|
0.00327
|
|
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
|
rs45570339
|
0.00327
|
|
NM_001257096.2(PAX1):c.1282+12A>C
|
rs368123079
|
0.00327
|
|
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)
|
rs192003811
|
0.00327
|
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
|
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr)
|
rs141185078
|
0.00327
|
|
NM_001244008.2(KIF1A):c.3202+10C>A
|
rs190997558
|
0.00326
|
|
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)
|
rs540997326
|
0.00326
|
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
|
NM_006306.4(SMC1A):c.855-15C>T
|
rs147791932
|
0.00326
|
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
|
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr)
|
rs35703638
|
0.00326
|
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
|
NM_000350.3(ABCA4):c.4352+14C>T
|
rs75359153
|
0.00325
|
|
NM_000222.3(KIT):c.1383A>G (p.Thr461=)
|
rs151016327
|
0.00324
|
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
|
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)
|
rs45549246
|
0.00324
|
|
NM_152515.5(CKAP2L):c.77A>G (p.Lys26Arg)
|
rs35593767
|
0.00324
|
|
NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg)
|
rs199836125
|
0.00323
|
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
|
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr)
|
rs11553545
|
0.00322
|
|
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr)
|
rs191837710
|
0.00322
|
|
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)
|
rs55849827
|
0.00322
|
|
NM_001127255.2(NLRP7):c.701T>C (p.Leu234Ser)
|
rs61732584
|
0.00321
|
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00321
|
|
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)
|
rs146682319
|
0.00321
|
|
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys)
|
rs3738497
|
0.00321
|
|
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala)
|
rs75160992
|
0.00321
|
|
NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp)
|
rs138845109
|
0.00321
|
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
|
NM_001365951.3(KIF1B):c.2115+7031T>C
|
rs149267056
|
0.00320
|
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00320
|
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
|
NM_001142966.3(GREB1L):c.277G>A (p.Glu93Lys)
|
rs185578147
|
0.00319
|
|
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr)
|
rs749130556
|
0.00319
|
|
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)
|
rs151166497
|
0.00319
|
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
|
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg)
|
rs141381896
|
0.00317
|
|
NM_020812.4(DOCK6):c.2476C>T (p.Arg826Cys)
|
rs35881692
|
0.00317
|
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
|
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)
|
rs114727970
|
0.00316
|
|
NM_005560.6(LAMA5):c.4405T>G (p.Ser1469Ala)
|
rs144009130
|
0.00316
|
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
|
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=)
|
rs367833904
|
0.00315
|
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
|
NM_032122.5(DTNBP1):c.702C>T (p.Asn234=)
|
rs78181071
|
0.00315
|
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
|
NM_006580.4(CLDN16):c.626C>A (p.Ala209Asp)
|
rs139846352
|
0.00314
|
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
|
NM_138694.4(PKHD1):c.2715+7del
|
rs551015414
|
0.00313
|
|
NC_000011.10:g.5227154C>T
|
rs72561473
|
0.00312
|
|
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)
|
rs61733362
|
0.00312
|
|
NM_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
|
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)
|
rs62642502
|
0.00312
|
|
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)
|
rs116330805
|
0.00311
|
|
NM_138477.4(CDAN1):c.2263-5G>A
|
rs190802841
|
0.00311
|
|
NM_000553.6(WRN):c.95A>G (p.Lys32Arg)
|
rs34477820
|
0.00310
|
|
NM_001134363.3(RBM20):c.*3289C>T
|
rs144896119
|
0.00310
|
|
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser)
|
rs144455066
|
0.00310
|
|
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu)
|
rs150391806
|
0.00310
|
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
|
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)
|
rs139266382
|
0.00309
|
|
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)
|
rs34644609
|
0.00309
|
|
NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys)
|
rs146505967
|
0.00309
|
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
|
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)
|
rs138354681
|
0.00308
|
|
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
|
NM_001036.6(RYR3):c.9254C>G (p.Pro3085Arg)
|
rs61996335
|
0.00307
|
|
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
|
NM_001354930.2(RIPK1):c.1730-15T>C
|
rs113605768
|
0.00307
|
|
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)
|
rs61747625
|
0.00307
|
|
NM_002253.4(KDR):c.2066C>T (p.Thr689Met)
|
rs34038364
|
0.00307
|
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
|
NM_005120.3(MED12):c.1248+15T>C
|
rs187377817
|
0.00307
|
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
|
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu)
|
rs80358239
|
0.00307
|
|
NM_000384.3(APOB):c.8353A>C (p.Asn2785His)
|
rs2163204
|
0.00306
|
|
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala)
|
rs145006535
|
0.00306
|
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
|
NM_000512.5(GALNS):c.759-67G>A
|
rs565875595
|
0.00305
|
|
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)
|
rs141112088
|
0.00305
|
|
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val)
|
rs202082304
|
0.00305
|
|
NM_003737.4(DCHS1):c.3263C>T (p.Thr1088Ile)
|
rs150912028
|
0.00305
|
|
NM_019885.4(CYP26B1):c.572G>A (p.Arg191His)
|
rs76025186
|
0.00305
|
|
NM_000037.4(ANK1):c.5544+46G>A
|
rs114905632
|
0.00304
|
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
|
NM_015450.3(POT1):c.903G>T (p.Gln301His)
|
rs116916706
|
0.00304
|
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
|
NM_000280.4(PAX6):c.*3168C>T
|
rs187705792
|
0.00303
|
|
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile)
|
rs143655263
|
0.00303
|
|
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)
|
rs188101277
|
0.00303
|
|
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)
|
rs150221689
|
0.00303
|
|
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser)
|
rs148679749
|
0.00303
|
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
|
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
|
rs116827211
|
0.00302
|
|
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu)
|
rs138281308
|
0.00302
|
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
|
NM_003748.4(ALDH4A1):c.1185+10G>A
|
rs201079601
|
0.00301
|
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
|
NM_001110219.3(GJB6):c.489G>A (p.Leu163=)
|
rs35002004
|
0.00300
|
|
NM_005918.4(MDH2):c.415G>A (p.Val139Ile)
|
rs111879470
|
0.00300
|
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00299
|
|
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)
|
rs141246107
|
0.00299
|
|
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys)
|
rs144577122
|
0.00299
|
|
NM_001166108.2(PALLD):c.1273A>T (p.Thr425Ser)
|
rs140454899
|
0.00299
|
|
NM_001166108.2(PALLD):c.502C>G (p.Leu168Val)
|
rs115607645
|
0.00299
|
|
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)
|
rs201207627
|
0.00299
|
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
|
NM_014908.4(DOLK):c.186G>A (p.Arg62=)
|
rs148171062
|
0.00299
|
|
NM_015065.3(EXPH5):c.5953A>G (p.Lys1985Glu)
|
rs146199863
|
0.00299
|
|
NM_024417.5(FDXR):c.1279G>T (p.Ala427Ser)
|
rs113594178
|
0.00299
|
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
|
NM_032447.5(FBN3):c.6604G>A (p.Gly2202Arg)
|
rs138457751
|
0.00299
|
|
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)
|
rs142549310
|
0.00298
|
|
NM_014467.3(SRPX2):c.460C>G (p.His154Asp)
|
rs73636611
|
0.00298
|
|
NC_000005.10:g.177409584C>G
|
rs41309132
|
0.00297
|
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
|
NM_000431.4(MVK):c.226+4A>G
|
rs145732290
|
0.00297
|
|
NM_001130987.2(DYSF):c.3496+14C>T
|
rs112034381
|
0.00297
|
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
|
NM_005159.4(ACTC1):c.*1219C>T
|
rs139559367
|
0.00297
|
|
NM_005559.4(LAMA1):c.5302G>A (p.Val1768Met)
|
rs73938527
|
0.00297
|
|
NM_021922.3(FANCE):c.1510-11C>T
|
rs189384185
|
0.00297
|
|
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)
|
rs141184379
|
0.00297
|
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
|
NM_000128.4(F11):c.1304+12G>A
|
rs116667976
|
0.00295
|
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
|
NM_004364.5(CEBPA):c.402G>A (p.Ala134=)
|
rs752254340
|
0.00295
|
|
NM_004527.4(MEOX1):c.126G>A (p.Pro42=)
|
rs141693578
|
0.00295
|
|
NM_014639.4(SKIC3):c.1765G>A (p.Ala589Thr)
|
rs147622709
|
0.00295
|
|
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)
|
rs61978576
|
0.00295
|
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
|
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu)
|
rs201823490
|
0.00294
|
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
|
NM_022356.4(P3H1):c.1473+5G>T
|
rs114044880
|
0.00294
|
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
|
NM_002296.4(LBR):c.995C>T (p.Ala332Val)
|
rs141647564
|
0.00293
|
|
NM_004285.4(H6PD):c.635C>T (p.Ala212Val)
|
rs143104068
|
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_198578.4(LRRK2):c.5163A>G (p.Ser1721=)
|
rs79909111
|
0.00293
|
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
|
NM_000178.4(GSS):c.941C>T (p.Pro314Leu)
|
rs75863437
|
0.00292
|
|
NM_001098816.3(TENM4):c.1453C>T (p.Pro485Ser)
|
rs191549326
|
0.00292
|
|
NM_003283.6(TNNT1):c.279A>G (p.Glu93=)
|
rs34313388
|
0.00292
|
|
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=)
|
rs140540789
|
0.00292
|
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
|
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)
|
rs76308115
|
0.00292
|
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
|
NM_000059.4(BRCA2):c.7805+6C>G
|
rs81002819
|
0.00290
|
|
NM_000155.4(GALT):c.510C>A (p.Ile170=)
|
rs61735984
|
0.00290
|
|
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)
|
rs142893758
|
0.00290
|
|
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
|
rs79327004
|
0.00290
|
|
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met)
|
rs140585347
|
0.00290
|
|
NM_001394062.1(MACF1):c.22506T>G (p.Phe7502Leu)
|
rs138819868
|
0.00290
|
|
NM_001558.4(IL10RA):c.67+8T>C
|
rs200992970
|
0.00290
|
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
|
NM_153676.4(USH1C):c.381G>T (p.Gly127=)
|
rs41282942
|
0.00290
|
|
NM_006031.6(PCNT):c.6933C>T (p.Val2311=)
|
rs148444313
|
0.00289
|
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
|
NM_022436.3(ABCG5):c.1763-7T>G
|
rs114780578
|
0.00288
|
|
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)
|
rs149451729
|
0.00287
|
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
|
NM_007055.4(POLR3A):c.927C>T (p.Asp309=)
|
rs41274610
|
0.00287
|
|
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)
|
rs34352773
|
0.00287
|
|
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)
|
rs77696190
|
0.00287
|
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
|
NM_181789.4(GLDN):c.269C>T (p.Ala90Val)
|
rs186935606
|
0.00287
|
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00286
|
|
NM_003803.4(MYOM1):c.2384+4A>T
|
rs73373171
|
0.00286
|
|
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg)
|
rs778160013
|
0.00286
|
|
NM_000208.4(INSR):c.2355G>A (p.Ser785=)
|
rs148137322
|
0.00285
|
|
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val)
|
rs146277144
|
0.00285
|
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
|
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=)
|
rs61736350
|
0.00284
|
|
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser)
|
rs201507971
|
0.00284
|
|
NM_005591.4(MRE11):c.1783+5G>C
|
rs142082313
|
0.00284
|
|
NM_018136.5(ASPM):c.3599-4A>G
|
rs149303254
|
0.00284
|
|
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=)
|
rs141379070
|
0.00284
|
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
|
NM_015702.3(MMADHC):c.-8C>T
|
rs180812156
|
0.00282
|
|
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp)
|
rs151283330
|
0.00282
|
|
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)
|
rs56204478
|
0.00282
|
|
NM_025193.4(HSD3B7):c.103C>G (p.Arg35Gly)
|
rs150464212
|
0.00282
|
|
NM_033337.3(CAV3):c.-37G>A
|
rs116840771
|
0.00282
|
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
|
NM_004252.5(NHERF1):c.203A>C (p.Glu68Ala)
|
rs139622189
|
0.00281
|
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
|
NM_001378183.1(PIEZO2):c.4958G>A (p.Arg1653Gln)
|
rs190938950
|
0.00280
|
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
|
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe)
|
rs139586720
|
0.00279
|
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00279
|
|
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)
|
rs61736595
|
0.00279
|
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
|
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp)
|
rs143503813
|
0.00278
|
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
|
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
|
rs200957609
|
0.00278
|
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
|
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)
|
rs143313688
|
0.00277
|
|
NM_005475.3(SH2B3):c.1523G>A (p.Arg508Gln)
|
rs79819500
|
0.00277
|
|
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)
|
rs149903666
|
0.00277
|
|
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=)
|
rs145402135
|
0.00277
|
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
|
NM_000203.5(IDUA):c.299+7G>A
|
rs200911718
|
0.00276
|
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
|
NM_001365088.1(SLC12A6):c.271+17825C>T
|
rs150751809
|
0.00276
|
|
NM_003172.4(SURF1):c.54+10G>A
|
rs587598397
|
0.00276
|
|
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)
|
rs35398714
|
0.00276
|
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
|
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)
|
rs55980825
|
0.00275
|
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
|
NM_018127.7(ELAC2):c.560-2A>G
|
rs149733287
|
0.00275
|
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
|
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)
|
rs121917810
|
0.00274
|
|
NM_000717.5(CA4):c.709G>T (p.Val237Leu)
|
rs2229178
|
0.00274
|
|
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val)
|
rs34246477
|
0.00274
|
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
|
NM_001364905.1(LRBA):c.6448+17A>G
|
rs183652080
|
0.00274
|
|
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)
|
rs2230516
|
0.00274
|
|
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=)
|
rs56118173
|
0.00274
|
|
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
0.00274
|
|
NM_000301.5(PLG):c.782G>A (p.Arg261His)
|
rs4252187
|
0.00273
|
|
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)
|
rs141587158
|
0.00273
|
|
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)
|
rs202209699
|
0.00273
|
|
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)
|
rs75450131
|
0.00273
|
|
NM_006885.4(ZFHX3):c.2793C>T (p.Gly931=)
|
rs143351192
|
0.00273
|
|
NM_012208.4(HARS2):c.7C>G (p.Leu3Val)
|
rs186043734
|
0.00273
|
|
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp)
|
rs74993523
|
0.00273
|
|
NM_000059.4(BRCA2):c.67+82C>G
|
rs189026060
|
0.00272
|
|
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe)
|
rs145644205
|
0.00272
|
|
NM_000277.3(PAH):c.772C>T (p.Leu258=)
|
rs75065106
|
0.00272
|
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
|
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=)
|
rs114168492
|
0.00272
|
|
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln)
|
rs140492803
|
0.00272
|
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
|
NM_001011719.2(ARSH):c.1072C>T (p.Arg358Cys)
|
rs146832237
|
0.00271
|
|
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=)
|
rs199536442
|
0.00271
|
|
NM_002972.4(SBF1):c.1058C>T (p.Pro353Leu)
|
rs185916020
|
0.00271
|
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
|
NM_032382.5(COG8):c.903C>G (p.Pro301=)
|
rs140736262
|
0.00271
|
|
NM_000278.5(PAX2):c.360C>T (p.Ala120=)
|
rs41291450
|
0.00270
|
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
|
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu)
|
rs35978122
|
0.00270
|
|
NM_002439.5(MSH3):c.2511G>A (p.Leu837=)
|
rs149628160
|
0.00270
|
|
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)
|
rs35238405
|
0.00270
|
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
|
NM_020442.6(VARS2):c.2293G>A (p.Val765Met)
|
rs55865499
|
0.00270
|
|
NM_152641.4(ARID2):c.1718C>T (p.Thr573Met)
|
rs76994389
|
0.00270
|
|
NM_153427.3(PITX2):c.-211G>A
|
rs111733107
|
0.00270
|
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
|
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)
|
rs147846832
|
0.00269
|
|
NM_003579.4(RAD54L):c.604C>T (p.Arg202Cys)
|
rs28363218
|
0.00269
|
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
|
NM_015072.5(TTLL5):c.2891G>A (p.Arg964Gln)
|
rs142169707
|
0.00269
|
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
|
NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr)
|
rs113768282
|
0.00268
|
|
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu)
|
rs34082669
|
0.00268
|
|
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val)
|
rs140868609
|
0.00268
|
|
NM_194248.3(OTOF):c.2215-80T>C
|
rs143141993
|
0.00268
|
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
|
NM_000314.8(PTEN):c.-165C>G
|
rs575260016
|
0.00267
|
|
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)
|
rs72653095
|
0.00267
|
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
|
NM_014000.3(VCL):c.3258+10A>T
|
rs71579379
|
0.00267
|
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
|
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=)
|
rs151137503
|
0.00267
|
|
NM_000073.3(CD3G):c.79+10A>G
|
rs115851096
|
0.00266
|
|
NM_001358530.2(MOCS1):c.124-69G>A
|
rs45487695
|
0.00266
|
|
NM_002778.4(PSAP):c.189C>T (p.Cys63=)
|
rs111369573
|
0.00266
|
|
NM_006348.5(COG5):c.1262A>G (p.His421Arg)
|
rs35393416
|
0.00266
|
|
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)
|
rs78501232
|
0.00266
|
|
NM_000751.3(CHRND):c.414C>T (p.Phe138=)
|
rs150208750
|
0.00265
|
|
NM_001377299.1(NDUFS2):c.1355-4C>G
|
rs147235167
|
0.00265
|
|
NM_001382347.1(MYO5A):c.5140G>A (p.Val1714Ile)
|
rs143298463
|
0.00265
|
|
NM_198576.4(AGRN):c.800C>T (p.Thr267Met)
|
rs566673314
|
0.00265
|
|
NM_201253.3(CRB1):c.1470C>T (p.Gly490=)
|
rs35193230
|
0.00265
|
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
|
NM_001369369.1(FOXN1):c.550C>A (p.Leu184Ile)
|
rs202144980
|
0.00264
|
|
NM_005379.4(MYO1A):c.2724+7G>A
|
rs55985817
|
0.00264
|
|
NM_016239.4(MYO15A):c.4779+9G>A
|
rs183256997
|
0.00264
|
|
NM_031433.4(MFRP):c.773-8A>C
|
rs143891457
|
0.00264
|
|
NM_000222.3(KIT):c.2597-51T>C
|
rs368272654
|
0.00263
|
|
NM_020921.4(NIN):c.2041G>A (p.Gly681Arg)
|
rs142733791
|
0.00263
|
|
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)
|
rs75857070
|
0.00263
|
|
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
|
rs192027050
|
0.00262
|
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
|
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=)
|
rs150315143
|
0.00262
|
|
NM_003466.4(PAX8):c.1189+15G>A
|
rs149585280
|
0.00262
|
|
NM_033026.6(PCLO):c.5632A>G (p.Ile1878Val)
|
rs150515688
|
0.00262
|
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
|
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)
|
rs28362286
|
0.00262
|
|
NM_198525.3(KIF7):c.2192-13C>T
|
rs201251064
|
0.00262
|
|
NM_000345.4(SNCA):c.*1289T>C
|
rs527798413
|
0.00261
|
|
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)
|
rs201251634
|
0.00261
|
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
|
NM_020297.4(ABCC9):c.2093-7T>C
|
rs185235724
|
0.00261
|
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
|
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)
|
rs146630359
|
0.00260
|
|
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys)
|
rs115365142
|
0.00260
|
|
NM_001256545.2(MEGF10):c.303C>T (p.Ser101=)
|
rs77203884
|
0.00260
|
|
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)
|
rs112332762
|
0.00260
|
|
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)
|
rs61752327
|
0.00260
|
|
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=)
|
rs373828157
|
0.00260
|
|
NM_000070.3(CAPN3):c.930T>C (p.Asp310=)
|
rs150356488
|
0.00259
|
|
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)
|
rs149441716
|
0.00259
|
|
NM_013328.4(PYCR2):c.399A>G (p.Thr133=)
|
rs112885589
|
0.00259
|
|
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)
|
rs138658585
|
0.00259
|
|
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn)
|
rs150644129
|
0.00259
|
|
NM_001123385.2(BCOR):c.408C>T (p.Ala136=)
|
rs139802143
|
0.00258
|
|
NM_006306.4(SMC1A):c.1254+11G>C
|
rs144354524
|
0.00258
|
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
|
NM_017636.3(TRPM4):c.-107G>T
|
rs112085495
|
0.00258
|
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
|
NM_000233.4(LHCGR):c.458+3A>G
|
rs76210637
|
0.00257
|
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
|
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile)
|
rs139798654
|
0.00257
|
|
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)
|
rs61781316
|
0.00257
|
|
NM_002772.3(TMPRSS15):c.44G>A (p.Ser15Asn)
|
rs61735772
|
0.00257
|
|
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=)
|
rs141812464
|
0.00257
|
|
NM_173651.4(FSIP2):c.8947G>A (p.Gly2983Ser)
|
rs142675481
|
0.00257
|
|
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)
|
rs35373464
|
0.00256
|
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
|
NM_014000.3(VCL):c.2025G>A (p.Val675=)
|
rs140766884
|
0.00256
|
|
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)
|
rs1800576
|
0.00255
|
|
NM_000527.5(LDLR):c.*13A>G
|
rs72658871
|
0.00255
|
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
|
NM_001170629.2(CHD8):c.456A>G (p.Pro152=)
|
rs61752839
|
0.00255
|
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
|
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=)
|
rs41292388
|
0.00255
|
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
|
NM_173630.4(RTTN):c.2990C>T (p.Ala997Val)
|
rs143471549
|
0.00255
|
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
|
NM_001256545.2(MEGF10):c.1002C>T (p.His334=)
|
rs142947482
|
0.00254
|
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
|
NM_000081.4(LYST):c.2363+4T>C
|
rs201398337
|
0.00252
|
|
NM_000294.3(PHKG2):c.324C>T (p.Asp108=)
|
rs138416154
|
0.00252
|
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
|
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=)
|
rs149859004
|
0.00252
|
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
|
NM_144670.6(A2ML1):c.863A>G (p.Lys288Arg)
|
rs75617691
|
0.00252
|
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
|
NM_000552.5(VWF):c.1596C>T (p.Gly532=)
|
rs111240043
|
0.00251
|
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
|
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr)
|
rs75820839
|
0.00251
|
|
NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln)
|
rs142043309
|
0.00251
|
|
NM_000064.4(C3):c.463A>C (p.Lys155Gln)
|
rs147859257
|
0.00250
|
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
|
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)
|
rs145686117
|
0.00250
|
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
|
NM_001349253.2(SCN11A):c.601A>T (p.Ile201Phe)
|
rs139915721
|
0.00249
|
|
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)
|
rs139640415
|
0.00249
|
|
NM_018993.4(RIN2):c.1141C>T (p.Arg381Trp)
|
rs199954296
|
0.00249
|
|
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp)
|
rs61729932
|
0.00249
|
|
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)
|
rs116150891
|
0.00248
|
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
|
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp)
|
rs61752766
|
0.00248
|
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
|
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys)
|
rs111360923
|
0.00248
|
|
NM_017763.6(RNF43):c.1010G>A (p.Arg337Gln)
|
rs138844366
|
0.00248
|
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00248
|
|
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile)
|
rs76659072
|
0.00248
|
|
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=)
|
rs142190930
|
0.00248
|
|
NM_000444.6(PHEX):c.1344C>T (p.Asp448=)
|
rs144911719
|
0.00247
|
|
NM_000939.4(POMC):c.583G>A (p.Ala195Thr)
|
rs141309351
|
0.00247
|
|
NM_001368882.1(COL13A1):c.236G>T (p.Arg79Leu)
|
rs200098419
|
0.00247
|
|
NM_003282.4(TNNI2):c.354G>A (p.Ser118=)
|
rs141400587
|
0.00247
|
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
|
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)
|
rs150264392
|
0.00246
|
|
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=)
|
rs75398993
|
0.00245
|
|
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)
|
rs147953465
|
0.00245
|
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
|
NM_006885.4(ZFHX3):c.246C>T (p.Asn82=)
|
rs62640000
|
0.00245
|
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
|
NM_020812.4(DOCK6):c.3752G>A (p.Arg1251Gln)
|
rs200390354
|
0.00245
|
|
NM_021020.5(LZTS1):c.88C>A (p.His30Asn)
|
rs145365423
|
0.00245
|
|
NM_000261.2(MYOC):c.366C>T (p.Gly122=)
|
rs145354114
|
0.00244
|
|
NM_001349.4(DARS1):c.590G>A (p.Arg197His)
|
rs141522501
|
0.00244
|
|
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val)
|
rs141901178
|
0.00244
|
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
|
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
|
rs138480801
|
0.00244
|
|
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)
|
rs41278047
|
0.00243
|
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
|
NM_001256545.2(MEGF10):c.1500G>A (p.Gln500=)
|
rs146075981
|
0.00243
|
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
|
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)
|
rs151071546
|
0.00243
|
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
|
NM_000540.3(RYR1):c.14130-8C>G
|
rs140808099
|
0.00242
|
|
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)
|
rs182389910
|
0.00242
|
|
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn)
|
rs183470913
|
0.00242
|
|
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met)
|
rs201370957
|
0.00242
|
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
|
NM_019844.4(SLCO1B3):c.154A>G (p.Ile52Val)
|
rs57325543
|
0.00242
|
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
|
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)
|
rs17215409
|
0.00241
|
|
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val)
|
rs116464756
|
0.00241
|
|
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu)
|
rs180724802
|
0.00241
|
|
NM_172351.3(CD46):c.926C>T (p.Pro309Leu)
|
rs41317833
|
0.00241
|
|
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)
|
rs61731628
|
0.00240
|
|
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)
|
rs147106995
|
0.00240
|
|
NM_000553.6(WRN):c.1981+11A>G
|
rs189999761
|
0.00240
|
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
|
NM_001358530.2(MOCS1):c.1668C>T (p.His556=)
|
rs149233109
|
0.00240
|
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
|
NM_003235.5(TG):c.6200-7T>A
|
rs79724982
|
0.00240
|
|
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)
|
rs531879999
|
0.00240
|
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00240
|
|
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)
|
rs199742668
|
0.00240
|
|
NM_024782.3(NHEJ1):c.258C>T (p.Asp86=)
|
rs113689741
|
0.00240
|
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
|
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser)
|
rs114926839
|
0.00239
|
|
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly)
|
rs144158934
|
0.00238
|
|
NM_001382273.1(TNK2):c.405T>C (p.Gly135=)
|
rs149257266
|
0.00238
|
|
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly)
|
rs116306908
|
0.00238
|
|
NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=)
|
rs35737354
|
0.00238
|
|
NM_201548.5(CERKL):c.157G>A (p.Glu53Lys)
|
rs141389059
|
0.00238
|
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
|
NM_001384732.1(CPLANE1):c.8958+4A>C
|
rs199810663
|
0.00237
|
|
NM_001982.4(ERBB3):c.89C>T (p.Pro30Leu)
|
rs56017157
|
0.00237
|
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
|
NM_000211.5(ITGB2):c.525C>T (p.Thr175=)
|
rs200134130
|
0.00236
|
|
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp)
|
rs146844731
|
0.00236
|
|
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)
|
rs201683984
|
0.00236
|
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
|
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)
|
rs78135392
|
0.00236
|
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
|
NM_015346.4(ZFYVE26):c.7417-5G>C
|
rs201771769
|
0.00236
|
|
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val)
|
rs113401862
|
0.00236
|
|
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)
|
rs145035489
|
0.00236
|
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
|
NM_000096.4(CP):c.322C>T (p.His108Tyr)
|
rs34386552
|
0.00235
|
|
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys)
|
rs141783623
|
0.00235
|
|
NM_000497.4(CYP11B1):c.395+9C>T
|
rs61751140
|
0.00235
|
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
|
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)
|
rs111033292
|
0.00235
|
|
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=)
|
rs79955190
|
0.00235
|
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
|
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp)
|
rs121913212
|
0.00235
|
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
|
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)
|
rs139441507
|
0.00235
|
|
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr)
|
rs150869428
|
0.00235
|
|
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)
|
rs149504235
|
0.00235
|
|
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn)
|
rs114234514
|
0.00234
|
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
|
NM_001134363.3(RBM20):c.*999A>G
|
rs138114979
|
0.00234
|
|
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser)
|
rs138070797
|
0.00234
|
|
NM_006204.4(PDE6C):c.2037-7T>C
|
rs181296577
|
0.00234
|
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
|
NM_000428.3(LTBP2):c.3527-14T>C
|
rs137854886
|
0.00233
|
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
|
NM_001139.3(ALOX12B):c.1229G>T (p.Cys410Phe)
|
rs138729161
|
0.00232
|
|
NM_003999.3(OSMR):c.1307T>A (p.Val436Asp)
|
rs34324145
|
0.00232
|
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
|
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)
|
rs148641800
|
0.00232
|
|
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val)
|
rs144715071
|
0.00232
|
|
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)
|
rs11575933
|
0.00232
|
|
NM_145309.6(LRRC51):c.255C>T (p.Asp85=)
|
rs145851613
|
0.00232
|
|
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=)
|
rs138769395
|
0.00232
|
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
|
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)
|
rs56200894
|
0.00231
|
|
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser)
|
rs72470545
|
0.00231
|
|
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=)
|
rs147754092
|
0.00231
|
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
|
NM_172364.5(CACNA2D4):c.2891C>T (p.Ala964Val)
|
rs201325274
|
0.00231
|
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
|
NM_000199.5(SGSH):c.411G>A (p.Ala137=)
|
rs142557761
|
0.00230
|
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
|
NM_001374504.1(TMPRSS6):c.406G>A (p.Glu136Lys)
|
rs116310349
|
0.00230
|
|
NM_002335.4(LRP5):c.2124G>A (p.Ser708=)
|
rs140977837
|
0.00230
|
|
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)
|
rs149172723
|
0.00230
|
|
NM_017866.6(TMEM70):c.211-6C>T
|
rs113669789
|
0.00230
|
|
NM_021023.6(CFHR3):c.613+2T>C
|
rs138839071
|
0.00230
|
|
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met)
|
rs121434235
|
0.00230
|
|
NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg)
|
rs202095663
|
0.00230
|
|
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu)
|
rs200992550
|
0.00230
|
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
|
NM_170606.3(KMT2C):c.2016A>T (p.Glu672Asp)
|
rs114419085
|
0.00230
|
|
NM_001048166.1(STIL):c.1024-4T>C
|
rs188900275
|
0.00229
|
|
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)
|
rs144177566
|
0.00229
|
|
NM_001122764.3(PPOX):c.-246G>T
|
rs114493458
|
0.00229
|
|
NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=)
|
rs139929890
|
0.00229
|
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00229
|
|
NM_001363.5(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
|
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter)
|
rs150070697
|
0.00229
|
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
|
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)
|
rs147966258
|
0.00228
|
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
|
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)
|
rs191428830
|
0.00228
|
|
NM_016553.5(NUP62):c.192C>T (p.Thr64=)
|
rs145084636
|
0.00228
|
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
|
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)
|
rs4150521
|
0.00227
|
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
|
NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu)
|
rs116500162
|
0.00227
|
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
|
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His)
|
rs115742228
|
0.00227
|
|
NM_003179.3(SYP):c.687C>T (p.Ala229=)
|
rs201427270
|
0.00227
|
|
NM_004070.4(CLCNKA):c.969-7C>G
|
rs201309731
|
0.00227
|
|
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)
|
rs142688906
|
0.00227
|
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
|
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr)
|
rs11569541
|
0.00226
|
|
NM_001012759.3(CTU2):c.1531G>A (p.Glu511Lys)
|
rs201215099
|
0.00226
|
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
|
NM_004998.4(MYO1E):c.153T>C (p.Tyr51=)
|
rs113544635
|
0.00225
|
|
NM_005559.4(LAMA1):c.2657C>T (p.Ala886Val)
|
rs144738522
|
0.00225
|
|
NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
|
NM_144670.6(A2ML1):c.1745A>G (p.Gln582Arg)
|
rs200271507
|
0.00225
|
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
|
NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala)
|
rs138343620
|
0.00225
|
|
NM_080424.4(SP110):c.583+8A>G
|
rs114743173
|
0.00224
|
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
|
NM_007315.4(STAT1):c.793A>G (p.Ile265Val)
|
rs148775168
|
0.00223
|
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
|
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)
|
rs60445853
|
0.00223
|
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
|
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=)
|
rs148857575
|
0.00222
|
|
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=)
|
rs74056006
|
0.00222
|
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
|
NM_004482.4(GALNT3):c.901G>A (p.Val301Ile)
|
rs143647583
|
0.00222
|
|
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=)
|
rs117346988
|
0.00222
|
|
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu)
|
rs186620158
|
0.00221
|
|
NM_012275.3(IL36RN):c.6C>T (p.Val2=)
|
rs28938771
|
0.00221
|
|
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
|
rs140308808
|
0.00221
|
|
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)
|
rs142903218
|
0.00221
|
|
NM_001001548.3(CD36):c.429+2T>C
|
rs3211893
|
0.00220
|
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
|
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)
|
rs144746030
|
0.00220
|
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
|
NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile)
|
rs145239537
|
0.00220
|
|
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)
|
rs55724159
|
0.00220
|
|
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile)
|
rs62621067
|
0.00220
|
|
NM_014336.5(AIPL1):c.516T>C (p.His172=)
|
rs62637017
|
0.00220
|
|
NM_017763.6(RNF43):c.380G>A (p.Arg127Gln)
|
rs35219874
|
0.00220
|
|
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)
|
rs139372744
|
0.00220
|
|
NM_024589.3(ROGDI):c.625C>G (p.Leu209Val)
|
rs144866271
|
0.00220
|
|
NM_025137.4(SPG11):c.4001+9G>T
|
rs141177255
|
0.00220
|
|
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)
|
rs36100288
|
0.00220
|
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
|
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)
|
rs41281120
|
0.00219
|
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
|
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)
|
rs202071528
|
0.00219
|
|
NM_174936.4(PCSK9):c.753C>T (p.Arg251=)
|
rs28385710
|
0.00219
|
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
|
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln)
|
rs41303501
|
0.00218
|
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
|
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)
|
rs151105762
|
0.00218
|
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
|
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)
|
rs139075817
|
0.00217
|
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
|
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)
|
rs147768808
|
0.00217
|
|
NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser)
|
rs114698062
|
0.00217
|
|
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)
|
rs201051252
|
0.00217
|
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
|
NM_005633.4(SOS1):c.1230G>A (p.Gln410=)
|
rs141390073
|
0.00217
|
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
|
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr)
|
rs117774280
|
0.00217
|
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
|
NM_001256071.3(RNF213):c.8110C>T (p.Arg2704Trp)
|
rs144074554
|
0.00216
|
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
|
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser)
|
rs72549294
|
0.00215
|
|
NM_001083961.2(WDR62):c.4312-5T>G
|
rs182467995
|
0.00215
|
|
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)
|
rs181295720
|
0.00215
|
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
|
NM_003244.4(TGIF1):c.16+1499T>C
|
rs148390122
|
0.00215
|
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
|
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)
|
rs2066520
|
0.00215
|
|
NM_024884.3(L2HGDH):c.408+14T>C
|
rs77736285
|
0.00215
|
|
NM_201384.3(PLEC):c.112+3A>G
|
rs191308779
|
0.00215
|
|
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)
|
rs34351171
|
0.00214
|
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
|
NM_002831.6(PTPN6):c.9-6G>A
|
rs200900053
|
0.00214
|
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
|
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)
|
rs137956605
|
0.00213
|
|
NM_001142800.2(EYS):c.788A>G (p.His263Arg)
|
rs139517572
|
0.00213
|
|
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=)
|
rs72657400
|
0.00213
|
|
NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr)
|
rs200242407
|
0.00213
|
|
NM_001430.5(EPAS1):c.2457G>A (p.Val819=)
|
rs149994721
|
0.00213
|
|
NM_003227.4(TFR2):c.1995+9G>C
|
rs41295921
|
0.00213
|
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
|
NM_001256071.3(RNF213):c.5947C>T (p.Arg1983Trp)
|
rs116608867
|
0.00212
|
|
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)
|
rs113058506
|
0.00212
|
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
|
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
|
NM_022039.4(FBXW4):c.457G>A (p.Gly153Arg)
|
rs116070021
|
0.00212
|
|
NM_024105.4(ALG12):c.501C>T (p.His167=)
|
rs149845730
|
0.00212
|
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
|
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=)
|
rs140821819
|
0.00211
|
|
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His)
|
rs142799217
|
0.00211
|
|
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro)
|
rs777868371
|
0.00211
|
|
NM_016239.4(MYO15A):c.7655-7C>G
|
rs191171943
|
0.00211
|
|
NM_000639.3(FASLG):c.451+7A>G
|
rs201525996
|
0.00210
|
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
|
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu)
|
rs540794663
|
0.00210
|
|
NM_001369369.1(FOXN1):c.382C>T (p.Arg128Trp)
|
rs144301161
|
0.00210
|
|
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=)
|
rs138823379
|
0.00210
|
|
NM_001388453.1(QRICH2):c.4705C>T (p.Arg1569Cys)
|
rs146485823
|
0.00210
|
|
NM_004625.4(WNT7A):c.861G>A (p.Val287=)
|
rs149962459
|
0.00210
|
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
|
NM_014141.6(CNTNAP2):c.551-11T>G
|
rs78223661
|
0.00210
|
|
NM_018255.4(ELP2):c.224C>G (p.Ser75Cys)
|
rs74438152
|
0.00210
|
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
|
NM_138477.4(CDAN1):c.3450+17A>G
|
rs141626745
|
0.00210
|
|
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln)
|
rs151001222
|
0.00210
|
|
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)
|
rs371886833
|
0.00210
|
|
NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr)
|
rs35068710
|
0.00210
|
|
NC_000007.14:g.107660756T>C
|
rs60284988
|
0.00209
|
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
|
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)
|
rs150303433
|
0.00209
|
|
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp)
|
rs57105517
|
0.00209
|
|
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp)
|
rs115108794
|
0.00209
|
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
|
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys)
|
rs191662816
|
0.00208
|
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
|
NM_001042413.2(GLIS3):c.1430C>T (p.Ala477Val)
|
rs114838275
|
0.00207
|
|
NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=)
|
rs35159176
|
0.00207
|
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
|
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)
|
rs151129325
|
0.00207
|
|
NM_002206.3(ITGA7):c.2958+16G>A
|
rs200586885
|
0.00207
|
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
|
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile)
|
rs76773981
|
0.00207
|
|
NM_005732.4(RAD50):c.980G>A (p.Arg327His)
|
rs28903091
|
0.00207
|
|
NM_006005.3(WFS1):c.-130C>T
|
rs576284630
|
0.00207
|
|
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)
|
rs148369169
|
0.00207
|
|
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)
|
rs141663679
|
0.00207
|
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
|
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)
|
rs7437875
|
0.00206
|
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
|
NM_000383.4(AIRE):c.1566+8C>T
|
rs72650680
|
0.00206
|
|
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)
|
rs149347601
|
0.00206
|
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00206
|
|
NM_001164508.2(NEB):c.20466+11A>G
|
rs181826071
|
0.00206
|
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
|
NM_002857.4(PEX19):c.261C>T (p.Phe87=)
|
rs146644725
|
0.00206
|
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
|
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)
|
rs148385798
|
0.00205
|
|
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=)
|
rs144125797
|
0.00205
|
|
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg)
|
rs140419673
|
0.00205
|
|
NM_001715.3(BLK):c.81G>A (p.Lys27=)
|
rs149279535
|
0.00205
|
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
|
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val)
|
rs145085742
|
0.00205
|
|
NM_005908.4(MANBA):c.2191G>A (p.Val731Met)
|
rs150554352
|
0.00205
|
|
NM_014908.4(DOLK):c.771C>T (p.Ile257=)
|
rs147416890
|
0.00205
|
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
|
NM_022369.4(STRA6):c.993G>A (p.Thr331=)
|
rs116753967
|
0.00205
|
|
NM_000921.5(PDE3A):c.1801C>A (p.Pro601Thr)
|
rs151312475
|
0.00204
|
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
|
NM_005612.5(REST):c.2203C>T (p.Pro735Ser)
|
rs141166149
|
0.00204
|
|
NM_014339.7(IL17RA):c.30T>A (p.Ala10=)
|
rs577217331
|
0.00204
|
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
|
NM_153212.3(GJB4):c.384G>A (p.Trp128Ter)
|
rs149110828
|
0.00204
|
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
|
NM_000355.4(TCN2):c.64+11C>T
|
rs141519384
|
0.00203
|
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
|
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)
|
rs139317762
|
0.00203
|
|
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys)
|
rs74664147
|
0.00203
|
|
NM_019112.4(ABCA7):c.5570+5G>C
|
rs200538373
|
0.00203
|
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00203
|
|
NM_139343.3(BIN1):c.384G>A (p.Thr128=)
|
rs61748158
|
0.00203
|
|
NM_153816.6(SNX14):c.994-5T>A
|
rs145795023
|
0.00203
|
|
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)
|
rs116836855
|
0.00203
|
|
NM_000601.6(HGF):c.1008G>A (p.Glu336=)
|
rs148714837
|
0.00202
|
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
|
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)
|
rs201006742
|
0.00202
|
|
NM_004407.4(DMP1):c.815G>A (p.Arg272His)
|
rs145237146
|
0.00202
|
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
|
NM_006757.4(TNNT3):c.107-6G>A
|
rs200739738
|
0.00202
|
|
NM_000211.5(ITGB2):c.162G>A (p.Pro54=)
|
rs138303556
|
0.00201
|
|
NM_000215.4(JAK3):c.108G>C (p.Gly36=)
|
rs149701114
|
0.00201
|
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
|
NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr)
|
rs76249824
|
0.00201
|
|
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala)
|
rs142245618
|
0.00201
|
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
|
NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser)
|
rs146326033
|
0.00200
|
|
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu)
|
rs189199944
|
0.00200
|
|
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)
|
rs147131853
|
0.00200
|
|
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala)
|
rs145043138
|
0.00200
|
|
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)
|
rs143092701
|
0.00200
|
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
|
NM_000041.4(APOE):c.137T>C (p.Leu46Pro)
|
rs769452
|
0.00199
|
|
NM_000095.3(COMP):c.218-15C>A
|
rs542886784
|
0.00199
|
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
|
NM_001114633.2(PLA2G4B):c.2305C>T (p.Arg769Cys)
|
rs150600168
|
0.00199
|
|
NM_012073.5(CCT5):c.331+14A>T
|
rs201171003
|
0.00199
|
|
NM_000064.4(C3):c.2203C>T (p.Arg735Trp)
|
rs117793540
|
0.00198
|
|
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly)
|
rs55824996
|
0.00198
|
|
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys)
|
rs61743313
|
0.00198
|
|
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)
|
rs17838192
|
0.00198
|
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
|
NM_018116.4(MSTO1):c.293A>G (p.Gln98Arg)
|
rs146175548
|
0.00198
|
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
|
NM_000540.3(RYR1):c.271-7C>G
|
rs192495718
|
0.00197
|
|
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=)
|
rs229593
|
0.00197
|
|
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)
|
rs138762270
|
0.00197
|
|
NM_001369369.1(FOXN1):c.321C>T (p.Ala107=)
|
rs138295148
|
0.00197
|
|
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr)
|
rs150426222
|
0.00197
|
|
NM_003803.4(MYOM1):c.461C>T (p.Thr154Met)
|
rs140845661
|
0.00197
|
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
|
NM_004153.4(ORC1):c.403-7A>C
|
rs199834691
|
0.00197
|
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
|
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile)
|
rs142220417
|
0.00197
|
|
NM_003801.4(GPAA1):c.1622+3A>G
|
rs146686863
|
0.00196
|
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
|
NM_201550.4(LRRC10):c.521T>C (p.Leu174Pro)
|
rs146361892
|
0.00196
|
|
NM_000070.3(CAPN3):c.2264-11C>T
|
rs28364537
|
0.00195
|
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
|
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu)
|
rs79673084
|
0.00195
|
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
|
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
|
NM_005529.7(HSPG2):c.9327C>T (p.His3109=)
|
rs61743674
|
0.00195
|
|
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)
|
rs147437033
|
0.00195
|
|
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)
|
rs61756352
|
0.00195
|
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
|
NM_001102401.4(TTI2):c.1115+7C>G
|
rs199720231
|
0.00194
|
|
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val)
|
rs114507258
|
0.00194
|
|
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)
|
rs143815273
|
0.00194
|
|
NM_001364905.1(LRBA):c.*9G>T
|
rs150102345
|
0.00194
|
|
NM_002635.4(SLC25A3):c.925+4G>A
|
rs201617025
|
0.00194
|
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
|
NM_007272.3(CTRC):c.640-12G>A
|
rs183053579
|
0.00194
|
|
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)
|
rs140768346
|
0.00193
|
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
|
NM_002941.4(ROBO1):c.2204G>A (p.Ser735Asn)
|
rs34515208
|
0.00193
|
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
|
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)
|
rs141202530
|
0.00192
|
|
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=)
|
rs75737363
|
0.00192
|
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
|
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)
|
rs559008223
|
0.00192
|
|
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)
|
rs149348130
|
0.00192
|
|
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr)
|
rs147341899
|
0.00192
|
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
|
NM_002439.5(MSH3):c.2480A>G (p.His827Arg)
|
rs138339194
|
0.00191
|
|
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser)
|
rs144098289
|
0.00191
|
|
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu)
|
rs201234482
|
0.00191
|
|
NM_024306.5(FA2H):c.1113G>C (p.Thr371=)
|
rs140017632
|
0.00191
|
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
|
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)
|
rs45567240
|
0.00190
|
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
|
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg)
|
rs61751972
|
0.00190
|
|
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)
|
rs117685425
|
0.00190
|
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
|
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)
|
rs145164937
|
0.00190
|
|
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)
|
rs34921128
|
0.00190
|
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
|
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)
|
rs139596860
|
0.00189
|
|
NM_000280.4(PAX6):c.*2506C>T
|
rs3026397
|
0.00189
|
|
NM_001195263.2(PDZD7):c.2719-9C>A
|
rs184247824
|
0.00189
|
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
|
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)
|
rs140899003
|
0.00189
|
|
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn)
|
rs144586270
|
0.00189
|
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
|
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)
|
rs139054881
|
0.00188
|
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
|
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)
|
rs72655967
|
0.00188
|
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
|
NM_012448.4(STAT5B):c.551-5T>C
|
rs200299299
|
0.00188
|
|
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
|
rs140926412
|
0.00188
|
|
NM_021222.3(PRUNE1):c.640A>G (p.Ile214Val)
|
rs150450383
|
0.00188
|
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
|
NM_002529.4(NTRK1):c.157G>C (p.Asp53His)
|
rs200815412
|
0.00187
|
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
|
NM_001164508.2(NEB):c.11076+12A>G
|
rs201250579
|
0.00186
|
|
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu)
|
rs57179857
|
0.00186
|
|
NM_020207.7(ERCC6L2):c.1140G>C (p.Leu380Phe)
|
rs150328847
|
0.00186
|
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
|
NM_001378902.1(ROS1):c.6359G>A (p.Arg2120Gln)
|
rs199882276
|
0.00185
|
|
NM_002519.3(NPAT):c.2418T>G (p.Asp806Glu)
|
rs200575398
|
0.00185
|
|
NM_002742.3(PRKD1):c.1356C>T (p.Thr452=)
|
rs147948478
|
0.00185
|
|
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)
|
rs138328594
|
0.00185
|
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
|
NM_019032.6(ADAMTSL4):c.584C>T (p.Pro195Leu)
|
rs139990606
|
0.00185
|
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
|
NM_173630.4(RTTN):c.5883G>A (p.Leu1961=)
|
rs35313369
|
0.00185
|
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
|
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp)
|
rs139071351
|
0.00184
|
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
|
NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg)
|
rs144665594
|
0.00184
|
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
|
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser)
|
rs146623116
|
0.00184
|
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
|
NM_000037.4(ANK1):c.2197-17G>A
|
rs188360816
|
0.00183
|
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
|
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)
|
rs147884766
|
0.00183
|
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
|
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=)
|
rs146747080
|
0.00183
|
|
NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala)
|
rs144695853
|
0.00183
|
|
NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr)
|
rs140984555
|
0.00183
|
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
|
NM_002691.4(POLD1):c.2006+17G>A
|
rs55655121
|
0.00182
|
|
NM_015311.3(OBSL1):c.375G>A (p.Glu125=)
|
rs374656370
|
0.00182
|
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
|
NM_016343.4(CENPF):c.3617A>G (p.Tyr1206Cys)
|
rs144237457
|
0.00181
|
|
NM_016653.3(MAP3K20):c.744+9A>G
|
rs148211031
|
0.00181
|
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
|
NM_000539.3(RHO):c.480C>A (p.Thr160=)
|
rs151063543
|
0.00180
|
|
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=)
|
rs114179357
|
0.00180
|
|
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00180
|
|
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=)
|
rs150849018
|
0.00180
|
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
|
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)
|
rs142563930
|
0.00179
|
|
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile)
|
rs150112560
|
0.00179
|
|
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)
|
rs144200355
|
0.00179
|
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
|
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)
|
rs148168366
|
0.00178
|
|
NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg)
|
rs140563851
|
0.00178
|
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
|
NM_001395413.1(POR):c.1889+13G>T
|
rs72557956
|
0.00178
|
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
|
NM_004870.4(MPDU1):c.393C>T (p.Val131=)
|
rs79286384
|
0.00178
|
|
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)
|
rs73541508
|
0.00178
|
|
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)
|
rs149119710
|
0.00178
|
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
|
NM_001040108.2(MLH3):c.2490T>G (p.Phe830Leu)
|
rs114015611
|
0.00177
|
|
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495
|
0.00177
|
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
|
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=)
|
rs150642468
|
0.00177
|
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
|
NM_000098.3(CPT2):c.341-16T>C
|
rs180830030
|
0.00176
|
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
|
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile)
|
rs150461578
|
0.00176
|
|
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)
|
rs114513294
|
0.00176
|
|
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)
|
rs76131127
|
0.00176
|
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
|
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)
|
rs140949805
|
0.00176
|
|
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)
|
rs151338404
|
0.00176
|
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
|
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)
|
rs142473303
|
0.00176
|
|
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=)
|
rs149233888
|
0.00176
|
|
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
|
rs138825640
|
0.00175
|
|
NM_000301.5(PLG):c.1878-6T>C
|
rs192519670
|
0.00175
|
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
|
NM_001080467.3(MYO5B):c.2125G>A (p.Val709Met)
|
rs192207329
|
0.00175
|
|
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)
|
rs147132904
|
0.00175
|
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
|
NM_002253.4(KDR):c.1384T>G (p.Leu462Val)
|
rs56286620
|
0.00175
|
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
|
NM_005450.6(NOG):c.275G>A (p.Gly92Glu)
|
rs199566527
|
0.00175
|
|
NM_005522.5(HOXA1):c.684A>G (p.Gln228=)
|
rs34462126
|
0.00175
|
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
|
NM_007215.4(POLG2):c.122G>A (p.Gly41Glu)
|
rs146504115
|
0.00175
|
|
NM_012144.4(DNAI1):c.81+5del
|
rs200411544
|
0.00175
|
|
NM_015072.5(TTLL5):c.2603-3T>C
|
rs185326652
|
0.00175
|
|
NM_020949.3(SLC7A14):c.821C>T (p.Thr274Ile)
|
rs116040996
|
0.00175
|
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
|
NM_002181.4(IHH):c.1051G>A (p.Val351Met)
|
rs143959492
|
0.00174
|
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
|
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)
|
rs59190330
|
0.00174
|
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
|
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys)
|
rs201972845
|
0.00173
|
|
NM_000268.4(NF2):c.1123-6C>T
|
rs147898623
|
0.00173
|
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
|
NM_001025603.2(RFX5):c.233+4G>C
|
rs2233846
|
0.00173
|
|
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)
|
rs749052307
|
0.00173
|
|
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val)
|
rs143511445
|
0.00173
|
|
NM_001953.5(TYMP):c.1290G>A (p.Arg430=)
|
rs570574111
|
0.00173
|
|
NM_016138.5(COQ7):c.545A>G (p.His182Arg)
|
rs139931303
|
0.00173
|
|
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)
|
rs191244915
|
0.00173
|
|
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)
|
rs150433001
|
0.00173
|
|
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=)
|
rs191249840
|
0.00173
|
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
|
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=)
|
rs187691546
|
0.00172
|
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
|
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)
|
rs139633601
|
0.00172
|
|
NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)
|
rs148721221
|
0.00172
|
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
|
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu)
|
rs200642524
|
0.00172
|
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
|
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys)
|
rs28756987
|
0.00171
|
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
|
NM_002296.4(LBR):c.866G>A (p.Gly289Glu)
|
rs148541545
|
0.00171
|
|
NM_002439.5(MSH3):c.1897-12T>A
|
rs56244266
|
0.00171
|
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
|
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)
|
rs121917739
|
0.00171
|
|
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)
|
rs35942532
|
0.00171
|
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
|
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)
|
rs141835897
|
0.00171
|
|
NM_138295.5(PKD1L1):c.6949C>T (p.Arg2317Trp)
|
rs139293796
|
0.00171
|
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
|
NM_000159.4(GCDH):c.642G>A (p.Thr214=)
|
rs142806397
|
0.00170
|
|
NM_001025356.3(ANO6):c.1274G>A (p.Arg425Gln)
|
rs142960268
|
0.00170
|
|
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
|
rs72773422
|
0.00170
|
|
NM_004625.4(WNT7A):c.555C>T (p.Asn185=)
|
rs149363953
|
0.00170
|
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
|
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)
|
rs150681845
|
0.00170
|
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
|
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)
|
rs143538947
|
0.00170
|
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00170
|
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
|
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)
|
rs144800506
|
0.00170
|
|
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys)
|
rs34390308
|
0.00170
|
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
|
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)
|
rs147744729
|
0.00169
|
|
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)
|
rs150148567
|
0.00169
|
|
NM_000969.5(RPL5):c.325-11T>G
|
rs145058455
|
0.00169
|
|
NM_001008216.2(GALE):c.529-12C>T
|
rs369293480
|
0.00169
|
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
0.00169
|
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
|
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)
|
rs58173258
|
0.00169
|
|
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln)
|
rs117687848
|
0.00169
|
|
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser)
|
rs143895379
|
0.00169
|
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
|
NM_000369.5(TSHR):c.357T>A (p.Pro119=)
|
rs144084915
|
0.00168
|
|
NM_001045.6(SLC6A4):c.924T>C (p.Gly308=)
|
rs74845752
|
0.00168
|
|
NM_001130987.2(DYSF):c.3403-10G>A
|
rs116733194
|
0.00168
|
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
|
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=)
|
rs148008235
|
0.00168
|
|
NM_004727.3(SLC24A1):c.1131C>T (p.Thr377=)
|
rs199504782
|
0.00168
|
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
|
NM_014679.5(CEP57):c.677G>A (p.Arg226His)
|
rs143711180
|
0.00168
|
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
|
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)
|
rs140460765
|
0.00168
|
|
NM_178857.6(RP1L1):c.1297C>T (p.Arg433Cys)
|
rs199589914
|
0.00168
|
|
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)
|
rs144944366
|
0.00167
|
|
NM_000159.4(GCDH):c.271+3G>A
|
rs75430014
|
0.00167
|
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
|
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=)
|
rs148005445
|
0.00167
|
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
|
NM_013339.4(ALG6):c.1398A>T (p.Leu466=)
|
rs140158304
|
0.00167
|
|
NM_014319.5(LEMD3):c.862C>G (p.Arg288Gly)
|
rs144086377
|
0.00167
|
|
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)
|
rs146588811
|
0.00167
|
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
|
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)
|
rs183347428
|
0.00166
|
|
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)
|
rs145467740
|
0.00166
|
|
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp)
|
rs74482326
|
0.00166
|
|
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)
|
rs150631721
|
0.00166
|
|
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)
|
rs540655479
|
0.00166
|
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
|
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)
|
rs149202834
|
0.00166
|
|
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)
|
rs144664865
|
0.00166
|
|
NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn)
|
rs77934668
|
0.00166
|
|
NM_033100.4(CDHR1):c.526-7C>G
|
rs190906755
|
0.00166
|
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
|
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
|
rs34718443
|
0.00165
|
|
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)
|
rs201169452
|
0.00165
|
|
NM_003721.4(RFXANK):c.765G>A (p.Val255=)
|
rs113406972
|
0.00165
|
|
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu)
|
rs147173555
|
0.00165
|
|
NM_004608.4(TBX6):c.353+9C>A
|
rs369603655
|
0.00165
|
|
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg)
|
rs145847114
|
0.00165
|
|
NM_018993.4(RIN2):c.1427C>G (p.Pro476Arg)
|
rs35142632
|
0.00165
|
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
|
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu)
|
rs142620954
|
0.00165
|
|
NM_153427.2(PITX2):c.-793C>A
|
rs145044365
|
0.00165
|
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
|
NM_000141.5(FGFR2):c.*111G>A
|
rs574474794
|
0.00164
|
|
NM_003193.5(TBCE):c.394G>A (p.Val132Ile)
|
rs144448831
|
0.00164
|
|
NM_201384.3(PLEC):c.2551G>A (p.Val851Met)
|
rs200647397
|
0.00164
|
|
NM_201548.5(CERKL):c.27G>A (p.Arg9=)
|
rs368855330
|
0.00164
|
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
|
NM_001036.6(RYR3):c.10698G>A (p.Thr3566=)
|
rs200309704
|
0.00163
|
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
|
NM_001304438.2(TMEM132E):c.1758C>T (p.Cys586=)
|
rs144692952
|
0.00163
|
|
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)
|
rs141215990
|
0.00163
|
|
NM_001482.3(GATM):c.669T>C (p.Tyr223=)
|
rs151231277
|
0.00163
|
|
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)
|
rs145789213
|
0.00163
|
|
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)
|
rs35641267
|
0.00163
|
|
NM_138694.4(PKHD1):c.8951-13C>T
|
rs112249812
|
0.00163
|
|
NM_000036.3(AMPD1):c.334G>A (p.Val112Met)
|
rs61741025
|
0.00162
|
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
|
NM_001174096.2(ZEB1):c.2717C>G (p.Ala906Gly)
|
rs78449005
|
0.00162
|
|
NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=)
|
rs111486860
|
0.00162
|
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
|
NM_005559.4(LAMA1):c.2900G>A (p.Gly967Asp)
|
rs141851670
|
0.00161
|
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
|
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)
|
rs142007602
|
0.00161
|
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
|
NM_001089.3(ABCA3):c.2340C>T (p.His780=)
|
rs45620539
|
0.00160
|
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
|
NM_004972.4(JAK2):c.3178-12_3178-11insC
|
rs533264615
|
0.00160
|
|
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)
|
rs143730090
|
0.00160
|
|
NM_014297.5(ETHE1):c.*55G>T
|
rs201842186
|
0.00160
|
|
NM_016203.4(PRKAG2):c.*614A>T
|
rs567058170
|
0.00160
|
|
NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile)
|
rs76148008
|
0.00160
|
|
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)
|
rs77959215
|
0.00160
|
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
|
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile)
|
rs11574115
|
0.00159
|
|
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=)
|
rs144192700
|
0.00159
|
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
|
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val)
|
rs143072070
|
0.00159
|
|
NM_001232.4(CASQ2):c.421-14G>A
|
rs139281637
|
0.00159
|
|
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)
|
rs143912353
|
0.00159
|
|
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)
|
rs190698163
|
0.00159
|
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
|
NM_025074.7(FRAS1):c.7029+7G>A
|
rs183687186
|
0.00159
|
|
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)
|
rs184868814
|
0.00159
|
|
NM_153212.3(GJB4):c.495C>T (p.Ser165=)
|
rs147912521
|
0.00159
|
|
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
|
rs112120466
|
0.00159
|
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
|
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)
|
rs56029513
|
0.00158
|
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
|
NM_001136.5(AGER):c.811T>A (p.Trp271Arg)
|
rs140930365
|
0.00158
|
|
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg)
|
rs183969516
|
0.00158
|
|
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)
|
rs115984741
|
0.00158
|
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
|
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr)
|
rs150488553
|
0.00158
|
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
|
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser)
|
rs202082944
|
0.00158
|
|
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)
|
rs190470017
|
0.00158
|
|
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala)
|
rs139453594
|
0.00157
|
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
|
NM_001040436.3(YARS2):c.456G>A (p.Ala152=)
|
rs201940521
|
0.00157
|
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
|
NM_001136.5(AGER):c.902G>C (p.Cys301Ser)
|
rs138178120
|
0.00157
|
|
NM_001379110.1(SLC9A6):c.*8A>T
|
rs200171451
|
0.00157
|
|
NM_001382567.1(STIM1):c.1634+287G>A
|
rs562406813
|
0.00157
|
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
|
NM_007098.4(CLTCL1):c.3874-4C>G
|
rs184612047
|
0.00157
|
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
|
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn)
|
rs138698439
|
0.00157
|
|
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=)
|
rs771501846
|
0.00157
|
|
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=)
|
rs113358058
|
0.00157
|
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
|
NM_000553.6(WRN):c.355+4G>C
|
rs145764920
|
0.00156
|
|
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)
|
rs146597836
|
0.00156
|
|
NM_001377.3(DYNC2H1):c.12366+8A>G
|
rs200404815
|
0.00156
|
|
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)
|
rs150672767
|
0.00156
|
|
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys)
|
rs144755294
|
0.00156
|
|
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=)
|
rs144574076
|
0.00156
|
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
|
NM_153603.4(COG7):c.1971C>T (p.His657=)
|
rs114458562
|
0.00156
|
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
|
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg)
|
rs36080296
|
0.00155
|
|
NM_000359.3(TGM1):c.920G>A (p.Arg307Gln)
|
rs146770534
|
0.00155
|
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
|
NM_000529.2(MC2R):c.318C>T (p.Ile106=)
|
rs147706299
|
0.00155
|
|
NM_000552.5(VWF):c.1728G>T (p.Met576Ile)
|
rs150146744
|
0.00155
|
|
NM_000755.5(CRAT):c.871A>G (p.Thr291Ala)
|
rs145822836
|
0.00155
|
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
|
NM_001114134.2(EPB42):c.430+12C>T
|
rs185794093
|
0.00155
|
|
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=)
|
rs201941844
|
0.00155
|
|
NM_001355436.2(SPTB):c.807T>C (p.Tyr269=)
|
rs115882528
|
0.00155
|
|
NM_001845.6(COL4A1):c.1000-5T>G
|
rs75711155
|
0.00155
|
|
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)
|
rs146426296
|
0.00155
|
|
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)
|
rs137988790
|
0.00155
|
|
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)
|
rs113840224
|
0.00155
|
|
NM_006214.4(PHYH):c.356C>T (p.Thr119Met)
|
rs34571629
|
0.00155
|
|
NM_006767.4(LZTR1):c.1530C>T (p.His510=)
|
rs190714197
|
0.00155
|
|
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=)
|
rs926074
|
0.00155
|
|
NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala)
|
rs146023695
|
0.00155
|
|
NM_025009.5(CEP135):c.1740A>G (p.Arg580=)
|
rs59759676
|
0.00155
|
|
NM_000362.5(TIMP3):c.516C>T (p.Phe172=)
|
rs149161075
|
0.00154
|
|
NM_000408.5(GPD2):c.614C>T (p.Pro205Leu)
|
rs142821701
|
0.00154
|
|
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala)
|
rs536639583
|
0.00154
|
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
|
NM_002910.6(RENBP):c.29A>G (p.Asp10Gly)
|
rs138548063
|
0.00154
|
|
NM_005045.4(RELN):c.77C>T (p.Ala26Val)
|
rs144557847
|
0.00154
|
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
|
NM_017636.4(TRPM4):c.1873+13C>G
|
rs184297107
|
0.00154
|
|
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)
|
rs139659618
|
0.00154
|
|
NM_138711.6(PPARG):c.150C>T (p.Asp50=)
|
rs112174008
|
0.00154
|
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
|
NM_000527.5(LDLR):c.498C>T (p.Ala166=)
|
rs10417394
|
0.00153
|
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
|
NM_003722.5(TP63):c.*1181T>C
|
rs565556454
|
0.00153
|
|
NM_005223.4(DNASE1):c.619C>T (p.Arg207Cys)
|
rs148373909
|
0.00153
|
|
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=)
|
rs138739620
|
0.00153
|
|
NM_017780.4(CHD7):c.712G>A (p.Val238Met)
|
rs200898742
|
0.00153
|
|
NM_000327.4(ROM1):c.81G>T (p.Leu27=)
|
rs148196509
|
0.00152
|
|
NM_000533.5(PLP1):c.-31C>T
|
rs2233695
|
0.00152
|
|
NM_000618.5(IGF1):c.207G>A (p.Arg69=)
|
rs147960415
|
0.00152
|
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00152
|
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
|
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)
|
rs142232675
|
0.00152
|
|
NM_133259.4(LRPPRC):c.3275+7G>A
|
rs111392631
|
0.00152
|
|
NM_178170.3(NEK8):c.618+12C>T
|
rs11649957
|
0.00152
|
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
|
NM_000718.4(CACNA1B):c.1543+13G>A
|
rs200007246
|
0.00151
|
|
NM_001024630.4(RUNX2):c.1166A>G (p.Asn389Ser)
|
rs115347084
|
0.00151
|
|
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp)
|
rs149447502
|
0.00151
|
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
|
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)
|
rs117632905
|
0.00151
|
|
NM_001171155.2(PET100):c.74A>G (p.Asn25Ser)
|
rs184325854
|
0.00151
|
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
|
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)
|
rs140830294
|
0.00151
|
|
NM_001486.4(GCKR):c.307G>A (p.Val103Met)
|
rs146175795
|
0.00151
|
|
NM_001519.4(BRF1):c.696G>A (p.Ala232=)
|
rs142328073
|
0.00151
|
|
NM_012079.6(DGAT1):c.797A>G (p.Asn266Ser)
|
rs146196839
|
0.00151
|
|
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln)
|
rs34523608
|
0.00150
|
|
NM_000037.4(ANK1):c.2745G>A (p.Val915=)
|
rs143585080
|
0.00150
|
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
|
NM_001355436.2(SPTB):c.40C>T (p.Pro14Ser)
|
rs147059670
|
0.00150
|
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
|
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=)
|
rs144723485
|
0.00150
|
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
|
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)
|
rs201597047
|
0.00150
|
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
|
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp)
|
rs119465999
|
0.00150
|
|
NM_153603.4(COG7):c.2283C>T (p.Thr761=)
|
rs144814374
|
0.00150
|
|
NM_194318.4(B3GLCT):c.1329+6G>T
|
rs200460848
|
0.00150
|
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
|
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)
|
rs121918239
|
0.00149
|
|
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val)
|
rs116232047
|
0.00149
|
|
NM_001845.6(COL4A1):c.1466-6C>T
|
rs183563055
|
0.00149
|
|
NM_003748.4(ALDH4A1):c.298-14C>T
|
rs201072479
|
0.00149
|
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
|
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu)
|
rs3970555
|
0.00149
|
|
NM_020812.4(DOCK6):c.5939+6C>T
|
rs200393834
|
0.00149
|
|
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)
|
rs369083434
|
0.00149
|
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
|
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)
|
rs144461610
|
0.00148
|
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
|
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe)
|
rs4987238
|
0.00148
|
|
NM_001130987.2(DYSF):c.2409+14G>A
|
rs141170955
|
0.00148
|
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
|
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn)
|
rs145868557
|
0.00148
|
|
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=)
|
rs140496149
|
0.00148
|
|
NM_130849.4(SLC39A4):c.1150-15G>A
|
rs200673705
|
0.00148
|
|
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
|
rs145238250
|
0.00148
|
|
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp)
|
rs72624967
|
0.00147
|
|
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=)
|
rs146028040
|
0.00147
|
|
NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu)
|
rs187273709
|
0.00147
|
|
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His)
|
rs576918934
|
0.00147
|
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
|
NM_001369268.1(ACAN):c.230G>A (p.Arg77His)
|
rs199701329
|
0.00147
|
|
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=)
|
rs151255626
|
0.00147
|
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
|
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)
|
rs121908326
|
0.00147
|
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
|
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp)
|
rs143813189
|
0.00147
|
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
|
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=)
|
rs137973298
|
0.00146
|
|
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp)
|
rs139607138
|
0.00146
|
|
NM_005422.4(TECTA):c.625-4G>T
|
rs142007879
|
0.00146
|
|
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)
|
rs28903086
|
0.00146
|
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
|
NM_020436.5(SALL4):c.2376T>C (p.Asn792=)
|
rs143601538
|
0.00146
|
|
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val)
|
rs113348354
|
0.00146
|
|
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)
|
rs45478900
|
0.00146
|
|
NM_144997.7(FLCN):c.871+16T>A
|
rs116643153
|
0.00146
|
|
NM_198578.4(LRRK2):c.225G>A (p.Ala75=)
|
rs75054132
|
0.00146
|
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
|
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)
|
rs138464813
|
0.00145
|
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
|
NM_003742.4(ABCB11):c.156G>A (p.Arg52=)
|
rs140587295
|
0.00145
|
|
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)
|
rs76881554
|
0.00145
|
|
NM_005670.4(EPM2A):c.129C>G (p.Ala43=)
|
rs547147183
|
0.00145
|
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
|
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)
|
rs79730689
|
0.00145
|
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
|
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile)
|
rs143351214
|
0.00145
|
|
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
0.00145
|
|
NM_022436.3(ABCG5):c.696C>T (p.Val232=)
|
rs72796720
|
0.00145
|
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
|
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
|
rs141787212
|
0.00145
|
|
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser)
|
rs6011
|
0.00144
|
|
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)
|
rs6034
|
0.00144
|
|
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)
|
rs202040332
|
0.00144
|
|
NM_002386.4(MC1R):c.67C>T (p.Gln23Ter)
|
rs201533137
|
0.00144
|
|
NM_003846.3(PEX11B):c.483A>G (p.Gly161=)
|
rs148000769
|
0.00144
|
|
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
|
rs201454433
|
0.00144
|
|
NM_170665.4(ATP2A2):c.2945C>T (p.Thr982Met)
|
rs149024535
|
0.00144
|
|
NM_000097.7(CPOX):c.212G>C (p.Gly71Ala)
|
rs572522263
|
0.00143
|
|
NM_000282.4(PCCA):c.828T>C (p.Gly276=)
|
rs143838146
|
0.00143
|
|
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)
|
rs2230029
|
0.00143
|
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
|
NM_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
|
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
|
rs147263499
|
0.00143
|
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
|
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=)
|
rs10268251
|
0.00143
|
|
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp)
|
rs142193069
|
0.00143
|
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
|
NM_012301.4(MAGI2):c.219C>T (p.Pro73=)
|
rs148240352
|
0.00143
|
|
NM_020549.5(CHAT):c.1391G>A (p.Ser464Asn)
|
rs148525631
|
0.00143
|
|
NM_032634.4(PIGO):c.2166G>C (p.Ala722=)
|
rs147101825
|
0.00143
|
|
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser)
|
rs61750441
|
0.00143
|
|
NM_000326.5(RLBP1):c.141+6G>A
|
rs181321141
|
0.00142
|
|
NM_000363.5(TNNI3):c.-85A>C
|
rs186540595
|
0.00142
|
|
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)
|
rs150404125
|
0.00142
|
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
|
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=)
|
rs75207686
|
0.00142
|
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
|
NM_006348.5(COG5):c.1776T>C (p.Ala592=)
|
rs142970891
|
0.00142
|
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
|
NM_019032.6(ADAMTSL4):c.2087C>T (p.Ser696Leu)
|
rs115937511
|
0.00142
|
|
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=)
|
rs149893977
|
0.00142
|
|
NM_000744.7(CHRNA4):c.77-4G>A
|
rs201123897
|
0.00141
|
|
NM_001080413.3(NOBOX):c.1826C>T (p.Pro609Leu)
|
rs115882574
|
0.00141
|
|
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)
|
rs111450526
|
0.00141
|
|
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)
|
rs149186357
|
0.00141
|
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
|
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)
|
rs144329079
|
0.00141
|
|
NM_004750.5(CRLF1):c.356G>A (p.Arg119His)
|
rs146027258
|
0.00141
|
|
NM_005732.4(RAD50):c.943G>T (p.Val315Leu)
|
rs28903090
|
0.00141
|
|
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=)
|
rs141095352
|
0.00141
|
|
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)
|
rs41304587
|
0.00141
|
|
NM_016630.7(SPG21):c.670-13G>T
|
rs115421171
|
0.00141
|
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00141
|
|
NM_207361.6(FREM2):c.5642-9T>C
|
rs148794835
|
0.00141
|
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
|
NM_000359.3(TGM1):c.1298+9G>A
|
rs201015655
|
0.00140
|
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
|
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser)
|
rs534942001
|
0.00140
|
|
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)
|
rs149316006
|
0.00140
|
|
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=)
|
rs114797034
|
0.00140
|
|
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup)
|
rs564202766
|
0.00140
|
|
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=)
|
rs146306059
|
0.00140
|
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
|
NM_001163809.2(WDR81):c.5118T>C (p.Leu1706=)
|
rs138211651
|
0.00139
|
|
NM_003458.4(BSN):c.11663C>T (p.Pro3888Leu)
|
rs149315260
|
0.00139
|
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
|
NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile)
|
rs145592908
|
0.00139
|
|
NM_014727.3(KMT2B):c.515C>T (p.Thr172Ile)
|
rs60207923
|
0.00139
|
|
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)
|
rs147259983
|
0.00139
|
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
|
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met)
|
rs140140417
|
0.00139
|
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
|
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=)
|
rs148667984
|
0.00138
|
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00138
|
|
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)
|
rs200155519
|
0.00138
|
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
|
NM_005262.3(GFER):c.189G>C (p.Glu63Asp)
|
rs375792737
|
0.00138
|
|
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)
|
rs144822294
|
0.00138
|
|
NM_024079.5(ALG8):c.675T>C (p.Asp225=)
|
rs139106381
|
0.00138
|
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
|
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp)
|
rs77431272
|
0.00138
|
|
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile)
|
rs75099211
|
0.00138
|
|
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)
|
rs147218173
|
0.00138
|
|
NM_194454.3(KRIT1):c.*132T>G
|
rs572414111
|
0.00138
|
|
NM_194454.3(KRIT1):c.*137del
|
rs543954194
|
0.00138
|
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
|
NM_000059.4(BRCA2):c.631+43G>T
|
rs276174869
|
0.00137
|
|
NM_000137.4(FAH):c.1098G>A (p.Ser366=)
|
rs35033541
|
0.00137
|
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
|
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr)
|
rs139749569
|
0.00137
|
|
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)
|
rs139991238
|
0.00137
|
|
NM_001378609.3(OTOGL):c.3213+10C>T
|
rs201373228
|
0.00137
|
|
NM_001458.5(FLNC):c.1698C>T (p.Ser566=)
|
rs112194548
|
0.00137
|
|
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)
|
rs13082063
|
0.00137
|
|
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)
|
rs150266274
|
0.00137
|
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
|
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val)
|
rs58597457
|
0.00137
|
|
NM_030773.4(TUBB1):c.13G>A (p.Val5Ile)
|
rs145280665
|
0.00137
|
|
NM_173500.4(TTBK2):c.1105C>T (p.Pro369Ser)
|
rs202237707
|
0.00137
|
|
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys)
|
rs143174629
|
0.00136
|
|
NM_000243.3(MEFV):c.1610+10G>T
|
rs11466033
|
0.00136
|
|
NM_000316.3(PTH1R):c.988+16G>A
|
rs140651831
|
0.00136
|
|
NM_000755.5(CRAT):c.1098G>A (p.Glu366=)
|
rs141081974
|
0.00136
|
|
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=)
|
rs148976893
|
0.00136
|
|
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=)
|
rs143456239
|
0.00136
|
|
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
|
rs200938874
|
0.00136
|
|
NM_004100.5(EYA4):c.783G>A (p.Thr261=)
|
rs17854076
|
0.00136
|
|
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)
|
rs117433399
|
0.00136
|
|
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe)
|
rs905287265
|
0.00136
|
|
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg)
|
rs141748831
|
0.00136
|
|
NM_017866.6(TMEM70):c.534T>C (p.Thr178=)
|
rs139864454
|
0.00136
|
|
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)
|
rs200643329
|
0.00136
|
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00135
|
|
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=)
|
rs189042259
|
0.00135
|
|
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg)
|
rs200667255
|
0.00135
|
|
NM_001111.5(ADAR):c.2668+6T>C
|
rs190881240
|
0.00135
|
|
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
|
rs569602115
|
0.00135
|
|
NM_001378477.3(NYX):c.1188G>A (p.Pro396=)
|
rs139558261
|
0.00135
|
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
|
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln)
|
rs143789597
|
0.00135
|
|
NM_002095.6(GTF2E2):c.398T>C (p.Ile133Thr)
|
rs2229299
|
0.00135
|
|
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter)
|
rs147328317
|
0.00135
|
|
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)
|
rs147463420
|
0.00135
|
|
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)
|
rs141280063
|
0.00135
|
|
NM_006348.5(COG5):c.2124A>G (p.Arg708=)
|
rs148020994
|
0.00135
|
|
NM_007315.4(STAT1):c.1222-5T>C
|
rs191364028
|
0.00135
|
|
NM_012254.3(SLC27A5):c.899-6C>T
|
rs200114980
|
0.00135
|
|
NM_022041.4(GAN):c.1612+12A>G
|
rs150344737
|
0.00135
|
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
|
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn)
|
rs140481641
|
0.00135
|
|
NM_172250.3(MMAA):c.102C>T (p.Leu34=)
|
rs146372922
|
0.00135
|
|
NC_000001.11:g.230704288G>T
|
rs1805090
|
0.00134
|
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
|
NM_000208.4(INSR):c.2736G>A (p.Arg912=)
|
rs147125937
|
0.00134
|
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
|
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)
|
rs199695976
|
0.00134
|
|
NM_001164508.2(NEB):c.24874-8C>T
|
rs200902944
|
0.00134
|
|
NM_001177316.2(SLC34A3):c.493G>A (p.Val165Ile)
|
rs146054276
|
0.00134
|
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00134
|
|
NM_001457.4(FLNB):c.420G>A (p.Thr140=)
|
rs192491895
|
0.00134
|
|
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)
|
rs201845149
|
0.00134
|
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
|
NM_018714.3(COG1):c.2304A>G (p.Thr768=)
|
rs147598221
|
0.00134
|
|
NM_020987.5(ANK3):c.5137G>A (p.Val1713Ile)
|
rs544357242
|
0.00134
|
|
NM_153006.3(NAGS):c.612A>G (p.Val204=)
|
rs139907815
|
0.00134
|
|
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)
|
rs149510892
|
0.00134
|
|
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)
|
rs145456588
|
0.00133
|
|
NM_001170629.2(CHD8):c.5390+10A>T
|
rs181227407
|
0.00133
|
|
NM_001355436.2(SPTB):c.1512C>T (p.Asp504=)
|
rs150968094
|
0.00133
|
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00133
|
|
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)
|
rs35006579
|
0.00133
|
|
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)
|
rs147353781
|
0.00133
|
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
|
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)
|
rs41306567
|
0.00133
|
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
|
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442
|
0.00133
|
|
NM_017668.3(NDE1):c.723G>T (p.Gly241=)
|
rs570994490
|
0.00133
|
|
NM_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
|
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=)
|
rs142320702
|
0.00133
|
|
NM_053013.4(ENO3):c.417G>A (p.Gly139=)
|
rs142390642
|
0.00133
|
|
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His)
|
rs144596211
|
0.00133
|
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
|
NM_000276.4(OCRL):c.39+10G>A
|
rs765141317
|
0.00132
|
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
|
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)
|
rs77729067
|
0.00132
|
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
|
NM_001369369.1(FOXN1):c.1131G>A (p.Lys377=)
|
rs139218809
|
0.00132
|
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
|
NM_020166.5(MCCC1):c.639+13A>G
|
rs140342772
|
0.00132
|
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
|
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)
|
rs150727525
|
0.00131
|
|
NM_000159.4(GCDH):c.1197C>T (p.His399=)
|
rs139344943
|
0.00131
|
|
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)
|
rs142004524
|
0.00131
|
|
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)
|
rs147802438
|
0.00131
|
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
|
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=)
|
rs577913880
|
0.00131
|
|
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln)
|
rs201636548
|
0.00131
|
|
NM_001739.2(CA5A):c.788G>A (p.Arg263His)
|
rs201195769
|
0.00131
|
|
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys)
|
rs61755731
|
0.00131
|
|
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)
|
rs118136428
|
0.00131
|
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
|
NM_005677.4(COLQ):c.23C>G (p.Thr8Ser)
|
rs189427175
|
0.00131
|
|
NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro)
|
rs143257313
|
0.00131
|
|
NM_015192.4(PLCB1):c.1678+10C>T
|
rs369652433
|
0.00131
|
|
NM_019066.5(MAGEL2):c.406G>A (p.Gly136Arg)
|
rs570335069
|
0.00131
|
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00131
|
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00131
|
|
NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=)
|
rs140959967
|
0.00131
|
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
|
NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln)
|
rs115209326
|
0.00131
|
|
NM_000875.5(IGF1R):c.3918C>T (p.Asp1306=)
|
rs34364279
|
0.00130
|
|
NM_001355436.2(SPTB):c.414T>C (p.Ile138=)
|
rs139699062
|
0.00130
|
|
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val)
|
rs148633216
|
0.00130
|
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
|
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg)
|
rs201373710
|
0.00130
|
|
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr)
|
rs57351269
|
0.00129
|
|
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg)
|
rs145453157
|
0.00129
|
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
|
NM_001492.6(GDF1):c.55C>G (p.Leu19Val)
|
rs370986101
|
0.00129
|
|
NM_002693.3(POLG):c.1585+11T>C
|
rs201566815
|
0.00129
|
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
|
NM_005259.3(MSTN):c.263G>A (p.Arg88Gln)
|
rs138343163
|
0.00129
|
|
NM_005535.3(IL12RB1):c.1914T>C (p.Pro638=)
|
rs199686420
|
0.00129
|
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
|
NM_014290.3(TDRD7):c.231C>T (p.Cys77=)
|
rs143579801
|
0.00129
|
|
NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile)
|
rs145897018
|
0.00129
|
|
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu)
|
rs148724199
|
0.00129
|
|
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys)
|
rs138855624
|
0.00129
|
|
NM_020639.3(RIPK4):c.832+2T>C
|
rs146341788
|
0.00129
|
|
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe)
|
rs112034997
|
0.00129
|
|
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
|
rs149606212
|
0.00128
|
|
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln)
|
rs199694087
|
0.00128
|
|
NM_000929.3(PLA2G5):c.312T>C (p.His104=)
|
rs149833360
|
0.00128
|
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00128
|
|
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)
|
rs149620809
|
0.00128
|
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
|
NM_006892.4(DNMT3B):c.1996+9C>T
|
rs143448185
|
0.00128
|
|
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu)
|
rs143215183
|
0.00128
|
|
NM_018117.12(WDR11):c.1306A>G (p.Ile436Val)
|
rs34602786
|
0.00128
|
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
|
NM_000791.4(DHFR):c.-443G>A
|
rs577919981
|
0.00127
|
|
NM_000843.4(GRM6):c.1944G>T (p.Ala648=)
|
rs62638619
|
0.00127
|
|
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
|
rs61736168
|
0.00127
|
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
|
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=)
|
rs140926445
|
0.00127
|
|
NM_006231.4(POLE):c.296C>T (p.Pro99Leu)
|
rs5744739
|
0.00127
|
|
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys)
|
rs150243147
|
0.00127
|
|
NM_182476.3(COQ6):c.1009A>G (p.Arg337Gly)
|
rs139010315
|
0.00127
|
|
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys)
|
rs143088941
|
0.00127
|
|
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)
|
rs138032057
|
0.00127
|
|
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly)
|
rs146685625
|
0.00127
|
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
|
NM_000262.3(NAGA):c.1209C>T (p.Ile403=)
|
rs201582948
|
0.00126
|
|
NM_000278.5(PAX2):c.932C>T (p.Ala311Val)
|
rs78738655
|
0.00126
|
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
|
NM_001127255.2(NLRP7):c.1082C>T (p.Ser361Leu)
|
rs143169084
|
0.00126
|
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
|
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu)
|
rs199855270
|
0.00126
|
|
NM_001458.5(FLNC):c.1813+11G>T
|
rs138716837
|
0.00126
|
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
|
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe)
|
rs149469954
|
0.00126
|
|
NM_005228.5(EGFR):c.889+18G>T
|
rs41323746
|
0.00126
|
|
NM_006269.2(RP1):c.6024A>G (p.Lys2008=)
|
rs147680018
|
0.00126
|
|
NM_015192.4(PLCB1):c.1336-13T>C
|
rs185405599
|
0.00126
|
|
NM_018685.5(ANLN):c.143G>A (p.Ser48Asn)
|
rs138687537
|
0.00126
|
|
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu)
|
rs139022925
|
0.00126
|
|
NM_022095.4(ZNF335):c.3392G>A (p.Arg1131Lys)
|
rs114864530
|
0.00126
|
|
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)
|
rs138339125
|
0.00126
|
|
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val)
|
rs149399707
|
0.00126
|
|
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile)
|
rs150807452
|
0.00126
|
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
|
NM_000059.4(BRCA2):c.632-69T>C
|
rs61948377
|
0.00125
|
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
|
NM_000439.5(PCSK1):c.1197-9C>T
|
rs200973203
|
0.00125
|
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
|
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser)
|
rs202001697
|
0.00125
|
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
|
NM_002900.3(RBP3):c.63C>T (p.His21=)
|
rs146038948
|
0.00125
|
|
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)
|
rs186987240
|
0.00125
|
|
NM_004320.6(ATP2A1):c.159G>A (p.Val53=)
|
rs148925426
|
0.00125
|
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
|
NM_017757.3(ZNF407):c.5589G>A (p.Val1863=)
|
rs183815209
|
0.00125
|
|
NM_144508.5(KNL1):c.165C>T (p.Asn55=)
|
rs201818761
|
0.00125
|
|
NC_000022.11:g.19779418C>T
|
rs72646973
|
0.00124
|
|
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)
|
rs201062903
|
0.00124
|
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
|
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met)
|
rs141202424
|
0.00124
|
|
NM_001042646.3(TRAK1):c.2054G>A (p.Arg685Gln)
|
rs149186690
|
0.00124
|
|
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His)
|
rs6138
|
0.00124
|
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
|
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)
|
rs144321381
|
0.00124
|
|
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=)
|
rs148778436
|
0.00124
|
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00124
|
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
|
NM_153603.4(COG7):c.1137+11A>C
|
rs74012174
|
0.00124
|
|
NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys)
|
rs151181050
|
0.00124
|
|
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter)
|
rs200846354
|
0.00124
|
|
NM_000297.4(PKD2):c.*552G>A
|
rs139787413
|
0.00123
|
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
|
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg)
|
rs141518457
|
0.00123
|
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468
|
0.00123
|
|
NM_001377275.1(PER3):c.3146C>T (p.Thr1049Ile)
|
rs144178755
|
0.00123
|
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
|
NM_002524.5(NRAS):c.225C>T (p.Gly75=)
|
rs142739534
|
0.00123
|
|
NM_003865.3(HESX1):c.525G>A (p.Ala175=)
|
rs141063672
|
0.00123
|
|
NM_004447.6(EPS8):c.1638C>T (p.Asn546=)
|
rs149455769
|
0.00123
|
|
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn)
|
rs140344858
|
0.00123
|
|
NM_004936.4(CDKN2B):c.256G>A (p.Asp86Asn)
|
rs148421170
|
0.00123
|
|
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)
|
rs193036129
|
0.00123
|
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
|
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)
|
rs137970656
|
0.00123
|
|
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)
|
rs147531758
|
0.00123
|
|
NM_016008.4(DYNC2LI1):c.508-4G>A
|
rs201151187
|
0.00123
|
|
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=)
|
rs141475629
|
0.00123
|
|
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu)
|
rs112301354
|
0.00123
|
|
NM_021120.4(DLG3):c.429C>T (p.Phe143=)
|
rs144225009
|
0.00123
|
|
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)
|
rs139677898
|
0.00123
|
|
NM_032387.5(WNK4):c.1885C>T (p.Arg629Cys)
|
rs61755600
|
0.00123
|
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
|
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys)
|
rs192221816
|
0.00123
|
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
|
NM_194248.3(OTOF):c.339C>T (p.Cys113=)
|
rs139098225
|
0.00123
|
|
NM_000037.4(ANK1):c.3532+13C>A
|
rs181905023
|
0.00122
|
|
NM_001904.4(CTNNB1):c.486C>T (p.Asp162=)
|
rs5743392
|
0.00122
|
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
|
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)
|
rs142939330
|
0.00122
|
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
|
NM_014339.7(IL17RA):c.1407C>T (p.Cys469=)
|
rs41396346
|
0.00122
|
|
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg)
|
rs201156458
|
0.00122
|
|
NM_000027.4(AGA):c.675T>C (p.Asn225=)
|
rs138699617
|
0.00121
|
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
|
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile)
|
rs149874529
|
0.00121
|
|
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro)
|
rs111748421
|
0.00121
|
|
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)
|
rs186499459
|
0.00121
|
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
|
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)
|
rs181166140
|
0.00121
|
|
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu)
|
rs200050988
|
0.00121
|
|
NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr)
|
rs139487685
|
0.00121
|
|
NM_003227.4(TFR2):c.2172A>G (p.Pro724=)
|
rs141140309
|
0.00121
|
|
NM_003332.4(TYROBP):c.46C>T (p.Leu16=)
|
rs147393700
|
0.00121
|
|
NM_004278.4(PIGL):c.526+10G>A
|
rs138410893
|
0.00121
|
|
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)
|
rs72554071
|
0.00121
|
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
|
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)
|
rs139456217
|
0.00121
|
|
NM_022132.5(MCCC2):c.450G>C (p.Val150=)
|
rs151098534
|
0.00121
|
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
|
NM_130839.5(UBE3A):c.618A>T (p.Ala206=)
|
rs143484751
|
0.00121
|
|
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His)
|
rs187563594
|
0.00121
|
|
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=)
|
rs116197349
|
0.00121
|
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
|
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)
|
rs200800133
|
0.00120
|
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
|
NM_003193.5(TBCE):c.585C>T (p.Ser195=)
|
rs139440109
|
0.00120
|
|
NM_014714.4(IFT140):c.546C>T (p.Asp182=)
|
rs150014480
|
0.00120
|
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00120
|
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
|
NM_001164508.2(NEB):c.12C>T (p.Asp4=)
|
rs117178114
|
0.00119
|
|
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)
|
rs141783863
|
0.00119
|
|
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe)
|
rs35346077
|
0.00119
|
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
|
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val)
|
rs141240937
|
0.00119
|
|
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)
|
rs78972735
|
0.00119
|
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
|
NM_000290.4(PGAM2):c.726C>T (p.Ala242=)
|
rs142209394
|
0.00118
|
|
NM_000365.6(TPI1):c.463G>A (p.Val155Met)
|
rs188138723
|
0.00118
|
|
NM_000475.5(NR0B1):c.16C>A (p.His6Asn)
|
rs191365011
|
0.00118
|
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
|
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=)
|
rs143850475
|
0.00118
|
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
|
NM_001364905.1(LRBA):c.5754+15T>C
|
rs112952572
|
0.00118
|
|
NM_001407.3(CELSR3):c.7890G>A (p.Met2630Ile)
|
rs149614835
|
0.00118
|
|
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841
|
0.00118
|
|
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)
|
rs144641429
|
0.00118
|
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
|
NM_005993.5(TBCD):c.1534-4G>A
|
rs116536514
|
0.00118
|
|
NM_014425.5(INVS):c.2310C>T (p.His770=)
|
rs116606949
|
0.00118
|
|
NM_014467.3(SRPX2):c.840G>A (p.Ala280=)
|
rs139377205
|
0.00118
|
|
NM_024009.3(GJB3):c.187G>A (p.Val63Ile)
|
rs61732295
|
0.00118
|
|
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)
|
rs529594203
|
0.00117
|
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
|
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly)
|
rs35089233
|
0.00117
|
|
NM_001256545.2(MEGF10):c.2857-8T>G
|
rs201148765
|
0.00117
|
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
|
NM_001715.3(BLK):c.974A>C (p.Lys325Thr)
|
rs77401687
|
0.00117
|
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00117
|
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
|
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
|
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)
|
rs2227871
|
0.00116
|
|
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)
|
rs145603001
|
0.00116
|
|
NM_000255.4(MMUT):c.393G>A (p.Gln131=)
|
rs145682249
|
0.00116
|
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
|
NM_000426.4(LAMA2):c.255C>T (p.Ile85=)
|
rs142083777
|
0.00116
|
|
NM_000527.5(LDLR):c.858C>T (p.Ser286=)
|
rs140241383
|
0.00116
|
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
|
NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=)
|
rs114704569
|
0.00116
|
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
|
NM_001354712.2(THRB):c.532+8G>C
|
rs146617205
|
0.00116
|
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
|
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr)
|
rs187932146
|
0.00116
|
|
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr)
|
rs143484849
|
0.00116
|
|
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=)
|
rs147154947
|
0.00116
|
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
|
NM_006343.3(MERTK):c.960+9C>A
|
rs373198570
|
0.00116
|
|
NM_006383.4(CIB2):c.231G>A (p.Ala77=)
|
rs144346527
|
0.00116
|
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
|
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)
|
rs117204561
|
0.00116
|
|
NM_139125.4(MASP1):c.863G>A (p.Arg288Gln)
|
rs116001173
|
0.00116
|
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
|
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)
|
rs45590135
|
0.00116
|
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
|
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=)
|
rs753313963
|
0.00116
|
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
|
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr)
|
rs145968118
|
0.00115
|
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
|
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)
|
rs145386421
|
0.00115
|
|
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu)
|
rs375285857
|
0.00115
|
|
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser)
|
rs201794404
|
0.00115
|
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
|
NM_001807.6(CEL):c.2172del (p.Val725fs)
|
rs780419796
|
0.00115
|
|
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)
|
rs138184483
|
0.00115
|
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
|
NM_003977.4(AIP):c.68G>A (p.Gly23Glu)
|
rs116940576
|
0.00115
|
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
|
NM_005391.5(PDK3):c.376A>G (p.Met126Val)
|
rs138321172
|
0.00115
|
|
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu)
|
rs61735813
|
0.00115
|
|
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=)
|
rs150279426
|
0.00115
|
|
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)
|
rs202232792
|
0.00115
|
|
NM_025074.7(FRAS1):c.108+10T>G
|
rs76831011
|
0.00115
|
|
NM_031433.4(MFRP):c.-108G>A
|
rs143241967
|
0.00115
|
|
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)
|
rs147826749
|
0.00115
|
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
|
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser)
|
rs142690258
|
0.00114
|
|
NM_000314.8(PTEN):c.-461G>A
|
rs1209261790
|
0.00114
|
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
|
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu)
|
rs200860772
|
0.00114
|
|
NM_004183.4(BEST1):c.624G>A (p.Gln208=)
|
rs150247275
|
0.00114
|
|
NM_004333.6(BRAF):c.1433-19A>G
|
rs369635503
|
0.00114
|
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
|
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)
|
rs146325169
|
0.00114
|
|
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)
|
rs149121639
|
0.00114
|
|
NM_020987.5(ANK3):c.4029G>A (p.Glu1343=)
|
rs116757606
|
0.00114
|
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
|
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)
|
rs142008398
|
0.00114
|
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
|
NM_001110219.3(GJB6):c.15G>A (p.Thr5=)
|
rs150075979
|
0.00113
|
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
|
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp)
|
rs144768563
|
0.00113
|
|
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly)
|
rs140648376
|
0.00113
|
|
NM_003151.4(STAT4):c.383A>T (p.Glu128Val)
|
rs140675301
|
0.00113
|
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
|
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)
|
rs147927593
|
0.00113
|
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
|
NM_004625.4(WNT7A):c.213C>T (p.Asp71=)
|
rs75651130
|
0.00113
|
|
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser)
|
rs141002044
|
0.00113
|
|
NM_005566.4(LDHA):c.183G>A (p.Glu61=)
|
rs149588992
|
0.00113
|
|
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)
|
rs150230201
|
0.00113
|
|
NM_015466.4(PTPN23):c.3545G>A (p.Arg1182Gln)
|
rs148987427
|
0.00113
|
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
|
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=)
|
rs111939130
|
0.00113
|
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00113
|
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
|
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)
|
rs141004967
|
0.00112
|
|
NM_000452.3(SLC10A2):c.66T>C (p.Pro22=)
|
rs138387807
|
0.00112
|
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
|
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)
|
rs148183839
|
0.00112
|
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
|
NM_006757.4(TNNT3):c.759C>T (p.Val253=)
|
rs140388684
|
0.00112
|
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
|
NM_000195.5(HPS1):c.198G>A (p.Ser66=)
|
rs115265574
|
0.00111
|
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
|
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=)
|
rs115800799
|
0.00111
|
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
|
NM_001166108.2(PALLD):c.1394G>A (p.Arg465His)
|
rs115372194
|
0.00111
|
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
|
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)
|
rs145750280
|
0.00111
|
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
|
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=)
|
rs140993979
|
0.00111
|
|
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val)
|
rs143189763
|
0.00111
|
|
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)
|
rs56198613
|
0.00111
|
|
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=)
|
rs143272701
|
0.00111
|
|
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys)
|
rs146081967
|
0.00111
|
|
NM_000044.6(AR):c.1424C>T (p.Ala475Val)
|
rs200390780
|
0.00110
|
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
|
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=)
|
rs185794149
|
0.00110
|
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
|
NM_003331.5(TYK2):c.1869C>T (p.Asp623=)
|
rs140078545
|
0.00110
|
|
NM_006941.4(SOX10):c.72C>T (p.Ser24=)
|
rs763019569
|
0.00110
|
|
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)
|
rs11568178
|
0.00110
|
|
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=)
|
rs145869401
|
0.00110
|
|
NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=)
|
rs146736925
|
0.00110
|
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
|
NM_178161.3(PTF1A):c.162C>T (p.Ser54=)
|
rs117678424
|
0.00110
|
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
|
NM_000293.3(PHKB):c.270C>T (p.Cys90=)
|
rs139431568
|
0.00109
|
|
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)
|
rs45489199
|
0.00109
|
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
|
NM_001164508.2(NEB):c.2283C>T (p.Ala761=)
|
rs373946448
|
0.00109
|
|
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His)
|
rs149001183
|
0.00109
|
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
|
NM_001304438.2(TMEM132E):c.1572C>T (p.Leu524=)
|
rs149974755
|
0.00109
|
|
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642
|
0.00109
|
|
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848
|
0.00109
|
|
NM_004655.4(AXIN2):c.1532C>T (p.Thr511Met)
|
rs200883019
|
0.00109
|
|
NM_005546.4(ITK):c.1276C>T (p.Leu426=)
|
rs145991142
|
0.00109
|
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
|
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met)
|
rs202189990
|
0.00109
|
|
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)
|
rs188762916
|
0.00109
|
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
|
NM_000018.4(ACADVL):c.780G>A (p.Thr260=)
|
rs140871321
|
0.00108
|
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
|
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
|
rs116551057
|
0.00108
|
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
|
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)
|
rs72653093
|
0.00108
|
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
|
NM_001040108.2(MLH3):c.3746C>T (p.Ser1249Phe)
|
rs139265757
|
0.00108
|
|
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)
|
rs61752387
|
0.00108
|
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
|
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr)
|
rs376807770
|
0.00108
|
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
|
NM_001166108.2(PALLD):c.909A>T (p.Arg303Ser)
|
rs138897963
|
0.00108
|
|
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=)
|
rs142873841
|
0.00108
|
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
|
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=)
|
rs116413527
|
0.00108
|
|
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=)
|
rs147637431
|
0.00108
|
|
NM_002529.4(NTRK1):c.212+10C>T
|
rs183517027
|
0.00108
|
|
NM_002979.5(SCP2):c.900C>T (p.Asp300=)
|
rs148423275
|
0.00108
|
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
|
NM_004530.6(MMP2):c.759C>T (p.Ser253=)
|
rs148801200
|
0.00108
|
|
NM_005266.7(GJA5):c.-67G>A
|
rs36214923
|
0.00108
|
|
NM_006267.5(RANBP2):c.783-6T>C
|
rs138540027
|
0.00108
|
|
NM_015713.5(RRM2B):c.48+96G>C
|
rs200373694
|
0.00108
|
|
NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser)
|
rs140506267
|
0.00108
|
|
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)
|
rs200053639
|
0.00108
|
|
NM_144670.6(A2ML1):c.4061+1G>A
|
rs202067416
|
0.00108
|
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
|
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)
|
rs147307031
|
0.00107
|
|
NM_000520.6(HEXA):c.69C>G (p.Leu23=)
|
rs143554538
|
0.00107
|
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
|
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met)
|
rs201226914
|
0.00107
|
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
|
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=)
|
rs139243761
|
0.00107
|
|
NM_020461.4(TUBGCP6):c.1452G>A (p.Pro484=)
|
rs114942206
|
0.00107
|
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
|
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=)
|
rs140594137
|
0.00106
|
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
|
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)
|
rs148405563
|
0.00106
|
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
|
NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=)
|
rs144894118
|
0.00106
|
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
|
NM_001399.5(EDA):c.458G>A (p.Arg153His)
|
rs140642493
|
0.00106
|
|
NM_001458.5(FLNC):c.6998-5C>T
|
rs139030003
|
0.00106
|
|
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=)
|
rs113282510
|
0.00106
|
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00106
|
|
NM_005802.5(TOPORS):c.2507A>G (p.Tyr836Cys)
|
rs149817592
|
0.00106
|
|
NM_005802.5(TOPORS):c.2525C>A (p.Thr842Asn)
|
rs139859703
|
0.00106
|
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
|
NM_012179.4(FBXO7):c.1144+9C>T
|
rs199954341
|
0.00106
|
|
NM_020533.3(MCOLN1):c.1359+11C>A
|
rs193053180
|
0.00106
|
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
|
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=)
|
rs150969538
|
0.00106
|
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
|
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs)
|
rs771427543
|
0.00106
|
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
|
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile)
|
rs140085544
|
0.00105
|
|
NM_000053.4(ATP7B):c.*16G>A
|
rs193922100
|
0.00105
|
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
|
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175
|
0.00105
|
|
NM_001355436.2(SPTB):c.204G>A (p.Leu68=)
|
rs145077630
|
0.00105
|
|
NM_001684.5(ATP2B4):c.3152C>A (p.Thr1051Asn)
|
rs61825652
|
0.00105
|
|
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr)
|
rs201771255
|
0.00105
|
|
NM_003919.3(SGCE):c.606A>G (p.Thr202=)
|
rs148979783
|
0.00105
|
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
|
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)
|
rs182411153
|
0.00105
|
|
NM_022124.6(CDH23):c.2865C>T (p.Arg955=)
|
rs79636933
|
0.00105
|
|
NM_025099.6(CTC1):c.663T>C (p.Gly221=)
|
rs138725914
|
0.00105
|
|
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys)
|
rs146913158
|
0.00105
|
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
|
NM_001164508.2(NEB):c.21840+13A>C
|
rs75515097
|
0.00104
|
|
NM_001184.4(ATR):c.7041+8G>A
|
rs201106004
|
0.00104
|
|
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)
|
rs368682964
|
0.00104
|
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
|
NM_006445.4(PRPF8):c.306C>T (p.Leu102=)
|
rs113874709
|
0.00104
|
|
NM_017882.3(CLN6):c.270C>T (p.Asn90=)
|
rs145247814
|
0.00104
|
|
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=)
|
rs150955045
|
0.00104
|
|
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
|
rs62542664
|
0.00104
|
|
NM_025193.4(HSD3B7):c.234C>T (p.Ala78=)
|
rs143699328
|
0.00104
|
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
|
NM_000277.3(PAH):c.*19G>T
|
rs372637021
|
0.00103
|
|
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser)
|
rs121909217
|
0.00103
|
|
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)
|
rs143532979
|
0.00103
|
|
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala)
|
rs55849640
|
0.00103
|
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
|
NM_001142800.2(EYS):c.6394C>T (p.Leu2132=)
|
rs149332790
|
0.00103
|
|
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His)
|
rs759627248
|
0.00103
|
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00103
|
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
|
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr)
|
rs33932559
|
0.00103
|
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
|
NM_003227.4(TFR2):c.473+8T>A
|
rs148902192
|
0.00103
|
|
NM_003227.4(TFR2):c.727-9T>A
|
rs200816061
|
0.00103
|
|
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
|
rs546554430
|
0.00103
|
|
NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys)
|
rs199835958
|
0.00103
|
|
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)
|
rs145415033
|
0.00103
|
|
NM_007175.8(ERLIN2):c.123G>A (p.Leu41=)
|
rs112575270
|
0.00103
|
|
NM_012309.5(SHANK2):c.4926G>A (p.Pro1642=)
|
rs150021463
|
0.00103
|
|
NM_015662.3(IFT172):c.3530+7T>C
|
rs150882197
|
0.00103
|
|
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=)
|
rs151142538
|
0.00103
|
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
|
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)
|
rs141472847
|
0.00103
|
|
NM_000037.4(ANK1):c.2589C>T (p.Pro863=)
|
rs114870847
|
0.00102
|
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
|
NM_000363.5(TNNI3):c.-103C>T
|
rs557391836
|
0.00102
|
|
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=)
|
rs140869022
|
0.00102
|
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
|
NM_001166108.2(PALLD):c.2393T>C (p.Met798Thr)
|
rs142116575
|
0.00102
|
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
|
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=)
|
rs147235045
|
0.00102
|
|
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly)
|
rs150637771
|
0.00102
|
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
|
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)
|
rs78484531
|
0.00102
|
|
NM_004608.4(TBX6):c.408C>T (p.Arg136=)
|
rs149724027
|
0.00102
|
|
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)
|
rs62635774
|
0.00102
|
|
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp)
|
rs201135654
|
0.00102
|
|
NM_030665.4(RAI1):c.1524G>A (p.Thr508=)
|
rs141826168
|
0.00102
|
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
|
NM_201599.3(ZMYM3):c.195C>G (p.Gly65=)
|
rs139405380
|
0.00102
|
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
|
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=)
|
rs188655353
|
0.00101
|
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
|
NM_000214.3(JAG1):c.*1551C>T
|
rs760811504
|
0.00101
|
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00101
|
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
|
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=)
|
rs150266932
|
0.00101
|
|
NM_001368894.2(PAX6):c.141+55G>A
|
rs571151963
|
0.00101
|
|
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His)
|
rs192234924
|
0.00101
|
|
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=)
|
rs146200756
|
0.00101
|
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
|
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)
|
rs192375476
|
0.00101
|
|
NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=)
|
rs144270260
|
0.00101
|
|
NM_005529.7(HSPG2):c.3744-8C>T
|
rs368626586
|
0.00101
|
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
|
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile)
|
rs202171627
|
0.00101
|
|
NM_021615.5(CHST6):c.993G>T (p.Gln331His)
|
rs140699573
|
0.00101
|
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
|
NM_025219.3(DNAJC5):c.*2790C>T
|
rs55665472
|
0.00101
|
|
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)
|
rs148075057
|
0.00101
|
|
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=)
|
rs199612329
|
0.00101
|
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
|
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp)
|
rs28757011
|
0.00100
|
|
NM_001040108.2(MLH3):c.423C>T (p.Ser141=)
|
rs142179277
|
0.00100
|
|
NM_001079.4(ZAP70):c.1737-3C>T
|
rs56249179
|
0.00100
|
|
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=)
|
rs3852522
|
0.00100
|
|
NM_001378120.1(MBD5):c.3754-9T>C
|
rs370173652
|
0.00100
|
|
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)
|
rs148688181
|
0.00100
|
|
NM_004793.4(LONP1):c.1817C>T (p.Ala606Val)
|
rs145519500
|
0.00100
|
|
NM_014989.7(RIMS1):c.2699-8T>C
|
rs149883454
|
0.00100
|
|
NM_015192.4(PLCB1):c.1888+11G>A
|
rs150219357
|
0.00100
|
|
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His)
|
rs148929548
|
0.00100
|
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
|
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly)
|
rs147190807
|
0.00099
|
|
NM_000383.4(AIRE):c.789C>T (p.Gly263=)
|
rs138066507
|
0.00099
|
|
NM_001040716.2(PC):c.1513+13del
|
rs755170894
|
0.00099
|
|
NM_001482.3(GATM):c.*699A>C
|
rs750817737
|
0.00099
|
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00099
|
|
NM_007127.3(VIL1):c.1514G>A (p.Arg505Gln)
|
rs146529113
|
0.00099
|
|
NM_007262.5(PARK7):c.501A>G (p.Ala167=)
|
rs71653621
|
0.00099
|
|
NM_007294.4(BRCA1):c.5277+78G>A
|
rs80358107
|
0.00099
|
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
|
NM_173495.3(PTCHD1):c.1311T>C (p.His437=)
|
rs150186077
|
0.00099
|
|
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
|
NM_201599.3(ZMYM3):c.4065C>T (p.Arg1355=)
|
rs142437272
|
0.00099
|
|
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr)
|
rs147210663
|
0.00098
|
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
|
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
|
rs142404822
|
0.00098
|
|
NM_001256545.2(MEGF10):c.3026-8C>T
|
rs185480820
|
0.00098
|
|
NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=)
|
rs35969994
|
0.00098
|
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
|
NM_002857.4(PEX19):c.459G>A (p.Leu153=)
|
rs78340311
|
0.00098
|
|
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
|
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)
|
rs146440397
|
0.00098
|
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
|
NM_005883.3(APC2):c.209C>T (p.Thr70Met)
|
rs144391493
|
0.00098
|
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
|
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)
|
rs72720524
|
0.00098
|
|
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)
|
rs61740381
|
0.00098
|
|
NM_020365.5(EIF2B3):c.591G>A (p.Thr197=)
|
rs188705026
|
0.00098
|
|
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=)
|
rs370580872
|
0.00098
|
|
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)
|
rs187080747
|
0.00098
|
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
|
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
|
rs139050119
|
0.00097
|
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
|
NM_000481.4(AMT):c.-76G>C
|
rs544461335
|
0.00097
|
|
NM_001039141.3(TRIOBP):c.1690A>G (p.Thr564Ala)
|
rs777175618
|
0.00097
|
|
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=)
|
rs371450118
|
0.00097
|
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
|
NM_001318510.2(ACSL4):c.806+3A>G
|
rs183171123
|
0.00097
|
|
NM_002382.5(MAX):c.172-6230G>A
|
rs148339628
|
0.00097
|
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
|
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
|
NM_004273.5(CHST3):c.1197C>T (p.Asp399=)
|
rs184636110
|
0.00097
|
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
|
NM_020921.4(NIN):c.5996G>A (p.Arg1999His)
|
rs141405524
|
0.00097
|
|
NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr)
|
rs45507693
|
0.00097
|
|
NM_198578.4(LRRK2):c.3777+7C>T
|
rs41286480
|
0.00097
|
|
NM_206933.4(USH2A):c.3158-7A>G
|
rs201558076
|
0.00097
|
|
NM_000038.6(APC):c.1825G>A (p.Val609Ile)
|
rs147863331
|
0.00096
|
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
|
NM_000215.4(JAK3):c.2079C>T (p.Pro693=)
|
rs145377049
|
0.00096
|
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
|
NM_000787.4(DBH):c.1772A>T (p.Glu591Val)
|
rs75512464
|
0.00096
|
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
|
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=)
|
rs138680809
|
0.00096
|
|
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)
|
rs111250264
|
0.00096
|
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
|
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=)
|
rs143495349
|
0.00096
|
|
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)
|
rs147247206
|
0.00096
|
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
|
NM_002439.5(MSH3):c.1453+15T>C
|
rs200717987
|
0.00096
|
|
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val)
|
rs140218185
|
0.00096
|
|
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr)
|
rs150161574
|
0.00096
|
|
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr)
|
rs141639003
|
0.00096
|
|
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)
|
rs141456140
|
0.00096
|
|
NM_007272.3(CTRC):c.494-6C>T
|
rs111790169
|
0.00096
|
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00096
|
|
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
|
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=)
|
rs143021112
|
0.00096
|
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
|
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)
|
rs61749678
|
0.00095
|
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
|
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln)
|
rs200290535
|
0.00095
|
|
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly)
|
rs201559220
|
0.00095
|
|
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)
|
rs142126065
|
0.00095
|
|
NM_199242.3(UNC13D):c.24G>A (p.Pro8=)
|
rs143320460
|
0.00095
|
|
NM_207361.6(FREM2):c.2367G>A (p.Pro789=)
|
rs140101984
|
0.00095
|
|
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=)
|
rs147498129
|
0.00094
|
|
NM_001008388.5(CISD2):c.12G>A (p.Glu4=)
|
rs145312923
|
0.00094
|
|
NM_001166114.2(PNPLA6):c.315+13C>T
|
rs200676307
|
0.00094
|
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
|
NM_003465.3(CHIT1):c.447C>T (p.Ala149=)
|
rs139891908
|
0.00094
|
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
|
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn)
|
rs61732021
|
0.00094
|
|
NM_012469.4(PRPF6):c.1797G>A (p.Arg599=)
|
rs145483312
|
0.00094
|
|
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)
|
rs140799936
|
0.00094
|
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
|
NM_022915.5(MRPL44):c.244A>G (p.Asn82Asp)
|
rs113782060
|
0.00094
|
|
NM_133261.3(GIPC3):c.906C>T (p.Ala302=)
|
rs140960269
|
0.00094
|
|
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)
|
rs146279300
|
0.00094
|
|
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp)
|
rs145227848
|
0.00094
|
|
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)
|
rs141028210
|
0.00094
|
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
|
NM_000193.4(SHH):c.876G>A (p.Gly292=)
|
rs112055654
|
0.00093
|
|
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)
|
rs61742247
|
0.00093
|
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
|
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His)
|
rs3752579
|
0.00093
|
|
NM_001165967.2(HES7):c.420G>A (p.Pro140=)
|
rs200833034
|
0.00093
|
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
|
NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=)
|
rs73273601
|
0.00093
|
|
NM_001360016.2(G6PD):c.1458-13C>G
|
rs371772243
|
0.00093
|
|
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
|
NM_003331.5(TYK2):c.2250C>T (p.Gly750=)
|
rs138652649
|
0.00093
|
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
|
NM_012193.4(FZD4):c.1194T>C (p.Tyr398=)
|
rs147766472
|
0.00093
|
|
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)
|
rs114404835
|
0.00093
|
|
NM_139058.3(ARX):c.802G>T (p.Val268Leu)
|
rs587783141
|
0.00093
|
|
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)
|
rs745594874
|
0.00093
|
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
|
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
|
rs144242254
|
0.00093
|
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
|
NM_000208.4(INSR):c.190T>C (p.Leu64=)
|
rs144836032
|
0.00092
|
|
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)
|
rs1800014
|
0.00092
|
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
|
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)
|
rs182808328
|
0.00092
|
|
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=)
|
rs141328606
|
0.00092
|
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
|
NM_001710.6(CFB):c.837C>G (p.Asp279Glu)
|
rs147564718
|
0.00092
|
|
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)
|
rs183214630
|
0.00092
|
|
NM_004132.5(HABP2):c.1379G>C (p.Gly460Ala)
|
rs113091571
|
0.00092
|
|
NM_004407.4(DMP1):c.1151G>A (p.Ser384Asn)
|
rs148498977
|
0.00092
|
|
NM_004994.3(MMP9):c.1896C>T (p.Leu632=)
|
rs202160464
|
0.00092
|
|
NM_005529.7(HSPG2):c.958+14G>A
|
rs200930800
|
0.00092
|
|
NM_014049.5(ACAD9):c.453+8A>G
|
rs199919500
|
0.00092
|
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
|
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=)
|
rs141025897
|
0.00092
|
|
NM_022124.6(CDH23):c.4488+7C>T
|
rs374215303
|
0.00092
|
|
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu)
|
rs141077206
|
0.00092
|
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
|
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile)
|
rs72653078
|
0.00091
|
|
NM_000392.5(ABCC2):c.258A>G (p.Val86=)
|
rs142443276
|
0.00091
|
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
|
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys)
|
rs3735354
|
0.00091
|
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
|
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr)
|
rs146022384
|
0.00091
|
|
NM_007325.5(GRIA3):c.159T>C (p.Phe53=)
|
rs145583732
|
0.00091
|
|
NM_017909.4(RMND1):c.1085G>A (p.Arg362His)
|
rs142588921
|
0.00091
|
|
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)
|
rs59551486
|
0.00091
|
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00091
|
|
NM_032409.3(PINK1):c.936G>A (p.Arg312=)
|
rs56200357
|
0.00091
|
|
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu)
|
rs148939095
|
0.00091
|
|
NM_153603.4(COG7):c.900C>T (p.Asn300=)
|
rs112611398
|
0.00091
|
|
NM_170707.4(LMNA):c.640-52C>T
|
rs41314033
|
0.00091
|
|
NM_174916.3(UBR1):c.4895C>T (p.Ala1632Val)
|
rs141227308
|
0.00091
|
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
|
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)
|
rs111033366
|
0.00091
|
|
NM_000082.4(ERCC8):c.66G>A (p.Glu22=)
|
rs149130938
|
0.00090
|
|
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=)
|
rs114832108
|
0.00090
|
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
|
NM_000489.6(ATRX):c.5787-20G>T
|
rs185359850
|
0.00090
|
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
|
NM_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
|
NM_005589.4(ALDH6A1):c.194A>G (p.Asn65Ser)
|
rs111975186
|
0.00090
|
|
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val)
|
rs143355299
|
0.00090
|
|
NM_022095.4(ZNF335):c.2280G>A (p.Gln760=)
|
rs148186790
|
0.00090
|
|
NM_199242.3(UNC13D):c.99G>A (p.Pro33=)
|
rs147886860
|
0.00090
|
|
NM_213622.4(STAMBP):c.764G>A (p.Arg255His)
|
rs146601260
|
0.00090
|
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
|
NM_000400.4(ERCC2):c.1775G>A (p.Arg592His)
|
rs147224585
|
0.00089
|
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
|
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=)
|
rs145061390
|
0.00089
|
|
NM_000553.6(WRN):c.3900C>A (p.Pro1300=)
|
rs138886038
|
0.00089
|
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
|
NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=)
|
rs112997540
|
0.00089
|
|
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala)
|
rs140588417
|
0.00089
|
|
NM_001385641.1(SAMD11):c.2178+12C>G
|
rs202118659
|
0.00089
|
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
0.00089
|
|
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)
|
rs140924661
|
0.00089
|
|
NM_019098.5(CNGB3):c.2007A>G (p.Lys669=)
|
rs147991883
|
0.00089
|
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
|
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)
|
rs140923667
|
0.00088
|
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
|
NM_000199.5(SGSH):c.303C>T (p.Phe101=)
|
rs150482611
|
0.00088
|
|
NM_000237.3(LPL):c.345A>C (p.Ser115=)
|
rs147309575
|
0.00088
|
|
NM_000276.4(OCRL):c.40-5C>T
|
rs201211377
|
0.00088
|
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
|
NM_001079.4(ZAP70):c.1289+10G>A
|
rs200538234
|
0.00088
|
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
|
NM_001292063.2(OTOG):c.4314C>T (p.Val1438=)
|
rs150138913
|
0.00088
|
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00088
|
|
NM_001394062.1(MACF1):c.4045C>A (p.Leu1349Met)
|
rs141025026
|
0.00088
|
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
|
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=)
|
rs34966542
|
0.00088
|
|
NM_005198.5(CHKB):c.670A>C (p.Asn224His)
|
rs149858290
|
0.00088
|
|
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=)
|
rs150650712
|
0.00088
|
|
NM_005908.4(MANBA):c.479G>A (p.Arg160His)
|
rs144917953
|
0.00088
|
|
NM_006019.4(TCIRG1):c.197-5C>T
|
rs183885218
|
0.00088
|
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
|
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=)
|
rs192179523
|
0.00088
|
|
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln)
|
rs202065858
|
0.00088
|
|
NM_018082.6(POLR3B):c.2796C>T (p.His932=)
|
rs141030994
|
0.00088
|
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
|
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)
|
rs201067154
|
0.00088
|
|
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)
|
rs144257298
|
0.00088
|
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
|
NM_201596.3(CACNB2):c.121-4T>G
|
rs74120235
|
0.00088
|
|
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)
|
rs145697858
|
0.00087
|
|
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=)
|
rs115875661
|
0.00087
|
|
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)
|
rs35486059
|
0.00087
|
|
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=)
|
rs143758913
|
0.00087
|
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
|
NM_001017995.3(SH3PXD2B):c.814G>A (p.Ala272Thr)
|
rs201224113
|
0.00087
|
|
NM_001177701.3(IFT27):c.115-5G>A
|
rs190494362
|
0.00087
|
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
|
NM_003896.4(ST3GAL5):c.-15C>T
|
rs527286367
|
0.00087
|
|
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)
|
rs140326154
|
0.00087
|
|
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)
|
rs536963649
|
0.00087
|
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
|
NM_000081.4(LYST):c.2769A>C (p.Ser923=)
|
rs112739986
|
0.00086
|
|
NM_000133.4(F9):c.19A>T (p.Ile7Phe)
|
rs150190385
|
0.00086
|
|
NM_000316.3(PTH1R):c.1710C>T (p.Gly570=)
|
rs112382430
|
0.00086
|
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
|
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=)
|
rs45598332
|
0.00086
|
|
NM_001035.3(RYR2):c.828A>G (p.Arg276=)
|
rs180711819
|
0.00086
|
|
NM_001042413.2(GLIS3):c.1044C>T (p.Tyr348=)
|
rs146238548
|
0.00086
|
|
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)
|
rs182512508
|
0.00086
|
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
|
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=)
|
rs181299250
|
0.00086
|
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
|
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile)
|
rs149056068
|
0.00086
|
|
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=)
|
rs56120877
|
0.00086
|
|
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)
|
rs141563188
|
0.00086
|
|
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser)
|
rs149951350
|
0.00086
|
|
NM_014290.3(TDRD7):c.2488C>T (p.Arg830Cys)
|
rs140697341
|
0.00086
|
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
|
NM_021101.5(CLDN1):c.195A>G (p.Lys65=)
|
rs145197251
|
0.00086
|
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00086
|
|
NM_032581.4(HYCC1):c.582C>T (p.Tyr194=)
|
rs148453182
|
0.00086
|
|
NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=)
|
rs202047755
|
0.00086
|
|
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe)
|
rs138153104
|
0.00086
|
|
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly)
|
rs148035648
|
0.00085
|
|
NM_000208.4(INSR):c.2970G>A (p.Pro990=)
|
rs41304772
|
0.00085
|
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
|
NM_000553.6(WRN):c.720T>G (p.Asn240Lys)
|
rs148229804
|
0.00085
|
|
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)
|
rs63750096
|
0.00085
|
|
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr)
|
rs114804033
|
0.00085
|
|
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=)
|
rs150153886
|
0.00085
|
|
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys)
|
rs140562514
|
0.00085
|
|
NM_003235.5(TG):c.4323G>A (p.Ser1441=)
|
rs769654694
|
0.00085
|
|
NM_003742.4(ABCB11):c.174C>T (p.Asp58=)
|
rs11568362
|
0.00085
|
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
|
NM_004621.6(TRPC6):c.1260G>A (p.Leu420=)
|
rs138155461
|
0.00085
|
|
NM_014915.3(ANKRD26):c.1451T>C (p.Val484Ala)
|
rs201461870
|
0.00085
|
|
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)
|
rs148410446
|
0.00085
|
|
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)
|
rs35173587
|
0.00085
|
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
|
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val)
|
rs774603798
|
0.00084
|
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
|
NM_001013838.3(CARMIL2):c.3554A>C (p.Glu1185Ala)
|
rs200875393
|
0.00084
|
|
NM_001031679.3(MSRB3):c.76+7G>T
|
rs199896714
|
0.00084
|
|
NM_001042545.2(LTBP4):c.2681-10C>G
|
rs200914063
|
0.00084
|
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
|
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)
|
rs45602336
|
0.00084
|
|
NM_001193315.2(VIPAS39):c.972C>T (p.Arg324=)
|
rs147303718
|
0.00084
|
|
NM_001367721.1(CASK):c.1077G>A (p.Ala359=)
|
rs145641295
|
0.00084
|
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
|
NM_006757.4(TNNT3):c.68-14C>T
|
rs202175253
|
0.00084
|
|
NM_014363.6(SACS):c.1917A>G (p.Ala639=)
|
rs138457742
|
0.00084
|
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
|
NM_018082.6(POLR3B):c.3066C>A (p.Ala1022=)
|
rs145991322
|
0.00084
|
|
NM_032830.3(UTP4):c.1083A>G (p.Gly361=)
|
rs34747774
|
0.00084
|
|
NM_052989.3(IFT122):c.41+15G>T
|
rs36222038
|
0.00084
|
|
NM_174936.4(PCSK9):c.1929C>T (p.His643=)
|
rs145770391
|
0.00084
|
|
NM_198578.4(LRRK2):c.347+2T>C
|
rs141221000
|
0.00084
|
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
|
NM_000396.4(CTSK):c.-1-9C>T
|
rs200480574
|
0.00083
|
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00083
|
|
NM_001077525.3(MTMR14):c.480C>T (p.Asn160=)
|
rs375826804
|
0.00083
|
|
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)
|
rs149776121
|
0.00083
|
|
NM_001145809.2(MYH14):c.615G>A (p.Thr205=)
|
rs199921330
|
0.00083
|
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
|
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=)
|
rs200182626
|
0.00083
|
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
|
NM_002335.4(LRP5):c.2234C>T (p.Ala745Val)
|
rs148550774
|
0.00083
|
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
|
NM_003394.4(WNT10B):c.229C>T (p.His77Tyr)
|
rs151284263
|
0.00083
|
|
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr)
|
rs142972252
|
0.00083
|
|
NM_004086.3(COCH):c.1348A>G (p.Ile450Val)
|
rs139503327
|
0.00083
|
|
NM_006005.3(WFS1):c.966C>T (p.His322=)
|
rs140196582
|
0.00083
|
|
NM_014249.4(NR2E3):c.900G>A (p.Thr300=)
|
rs184906734
|
0.00083
|
|
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=)
|
rs3758442
|
0.00083
|
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
|
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro)
|
rs146970674
|
0.00083
|
|
NM_019066.5(MAGEL2):c.2362A>T (p.Ser788Cys)
|
rs113329438
|
0.00083
|
|
NM_021939.4(FKBP10):c.174A>G (p.Glu58=)
|
rs150052125
|
0.00083
|
|
NM_025099.6(CTC1):c.1728G>A (p.Pro576=)
|
rs78320653
|
0.00083
|
|
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=)
|
rs144951661
|
0.00083
|
|
NM_025207.5(FLAD1):c.1119G>A (p.Gly373=)
|
rs142224458
|
0.00083
|
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
|
NM_003465.3(CHIT1):c.1351C>T (p.Pro451Ser)
|
rs141079733
|
0.00082
|
|
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp)
|
rs117273916
|
0.00082
|
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
|
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)
|
rs200596619
|
0.00082
|
|
NM_182894.3(VSX2):c.699C>T (p.Pro233=)
|
rs141712104
|
0.00082
|
|
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)
|
rs149296737
|
0.00082
|
|
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=)
|
rs200741156
|
0.00082
|
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
|
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=)
|
rs148104605
|
0.00081
|
|
NM_000410.4(HFE):c.829G>A (p.Glu277Lys)
|
rs140080192
|
0.00081
|
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00081
|
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
|
NM_001193315.2(VIPAS39):c.598-6C>G
|
rs141155709
|
0.00081
|
|
NM_001256545.2(MEGF10):c.117-5_117-4insC
|
rs538399152
|
0.00081
|
|
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val)
|
rs201700629
|
0.00081
|
|
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
|
rs140243105
|
0.00081
|
|
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
|
rs71428908
|
0.00081
|
|
NM_001367721.1(CASK):c.2317+9T>C
|
rs5964007
|
0.00081
|
|
NM_001372051.1(CASP8):c.1304+12C>T
|
rs375465590
|
0.00081
|
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
|
NM_001378477.3(NYX):c.567C>A (p.Ile189=)
|
rs746383908
|
0.00081
|
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
|
NM_003465.3(CHIT1):c.89A>G (p.Asn30Ser)
|
rs146692911
|
0.00081
|
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
|
NM_005676.5(RBM10):c.1104A>G (p.Pro368=)
|
rs149109733
|
0.00081
|
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
|
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)
|
rs151086692
|
0.00081
|
|
NM_013435.3(RAX):c.544-11C>G
|
rs200098438
|
0.00081
|
|
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)
|
rs141993139
|
0.00081
|
|
NM_016529.6(ATP8A2):c.76+10G>A
|
rs369291641
|
0.00081
|
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
|
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265
|
0.00081
|
|
NM_152269.5(MTRFR):c.243C>T (p.Cys81=)
|
rs140411575
|
0.00081
|
|
NM_153766.3(KCNJ1):c.180C>T (p.Tyr60=)
|
rs104894244
|
0.00081
|
|
NM_173630.4(RTTN):c.1221A>G (p.Glu407=)
|
rs112327299
|
0.00081
|
|
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=)
|
rs114858512
|
0.00081
|
|
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)
|
rs148810231
|
0.00081
|
|
NM_000023.4(SGCA):c.843C>A (p.Ala281=)
|
rs149487996
|
0.00080
|
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
|
NM_000246.4(CIITA):c.1068G>A (p.Pro356=)
|
rs140486686
|
0.00080
|
|
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp)
|
rs76378652
|
0.00080
|
|
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)
|
rs200673226
|
0.00080
|
|
NM_002181.4(IHH):c.857C>T (p.Pro286Leu)
|
rs140093604
|
0.00080
|
|
NM_004341.5(CAD):c.6001G>A (p.Val2001Ile)
|
rs144801319
|
0.00080
|
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
|
NM_012418.4(FSCN2):c.492C>T (p.Asp164=)
|
rs370382419
|
0.00080
|
|
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met)
|
rs150680111
|
0.00080
|
|
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala)
|
rs200618482
|
0.00080
|
|
NM_153676.4(USH1C):c.2443C>T (p.Leu815=)
|
rs148477093
|
0.00080
|
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
|
NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp)
|
rs148703569
|
0.00080
|
|
NM_201384.3(PLEC):c.2478C>T (p.Asp826=)
|
rs202135215
|
0.00080
|
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
|
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)
|
rs147084515
|
0.00079
|
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
|
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)
|
rs150572999
|
0.00079
|
|
NM_005535.3(IL12RB1):c.273C>T (p.Ala91=)
|
rs138087003
|
0.00079
|
|
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)
|
rs28937880
|
0.00079
|
|
NM_014714.4(IFT140):c.1788T>C (p.Asp596=)
|
rs148904634
|
0.00079
|
|
NM_020433.5(JPH2):c.1424G>A (p.Arg475His)
|
rs765754956
|
0.00079
|
|
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)
|
rs56174879
|
0.00079
|
|
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=)
|
rs377400638
|
0.00079
|
|
NM_032545.4(CFC1):c.522del (p.Ala175fs)
|
rs746231039
|
0.00079
|
|
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)
|
rs137852660
|
0.00079
|
|
NM_145725.3(TRAF3):c.449G>A (p.Arg150His)
|
rs141920055
|
0.00079
|
|
NM_207361.6(FREM2):c.177T>C (p.Gly59=)
|
rs370018440
|
0.00079
|
|
NM_207361.6(FREM2):c.2823C>T (p.Pro941=)
|
rs150154438
|
0.00079
|
|
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)
|
rs144222167
|
0.00078
|
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
|
NM_000345.4(SNCA):c.*1047T>G
|
rs532025477
|
0.00078
|
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
|
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val)
|
rs149200446
|
0.00078
|
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
|
NM_001002755.4(NFU1):c.166+8T>A
|
rs199927640
|
0.00078
|
|
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)
|
rs150069819
|
0.00078
|
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
|
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile)
|
rs61757375
|
0.00078
|
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
|
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)
|
rs111854563
|
0.00078
|
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
|
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn)
|
rs200601717
|
0.00078
|
|
NM_004608.4(TBX6):c.815G>A (p.Arg272Gln)
|
rs201231713
|
0.00078
|
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
|
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00078
|
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
|
NM_012203.2(GRHPR):c.801A>C (p.Gly267=)
|
rs141800325
|
0.00078
|
|
NM_014140.4(SMARCAL1):c.2528+15G>A
|
rs200879397
|
0.00078
|
|
NM_018475.5(TMEM165):c.433+15C>A
|
rs370138167
|
0.00078
|
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
|
NM_022437.3(ABCG8):c.1411+8T>A
|
rs201991639
|
0.00078
|
|
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)
|
rs200946170
|
0.00078
|
|
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
|
rs147328685
|
0.00078
|
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
|
NM_153603.4(COG7):c.1113C>T (p.Leu371=)
|
rs114661874
|
0.00078
|
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00077
|
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00077
|
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
|
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)
|
rs143185806
|
0.00077
|
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
|
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)
|
rs149008060
|
0.00077
|
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
|
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser)
|
rs137991779
|
0.00077
|
|
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys)
|
rs200180227
|
0.00077
|
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
|
NM_153603.4(COG7):c.319-12C>T
|
rs201965984
|
0.00077
|
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
|
NM_000130.5(F5):c.1021C>T (p.Arg341Cys)
|
rs200532195
|
0.00076
|
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
|
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp)
|
rs183087139
|
0.00076
|
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
|
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr)
|
rs2234036
|
0.00076
|
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
|
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=)
|
rs143765389
|
0.00076
|
|
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=)
|
rs138741225
|
0.00076
|
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
|
NM_001353214.3(DYM):c.946+7G>A
|
rs150849326
|
0.00076
|
|
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
|
rs104895467
|
0.00076
|
|
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln)
|
rs200276831
|
0.00076
|
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
|
NM_001558.4(IL10RA):c.1401G>A (p.Ser467=)
|
rs150551465
|
0.00076
|
|
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)
|
rs63750043
|
0.00076
|
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
|
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=)
|
rs115736276
|
0.00076
|
|
NM_002778.4(PSAP):c.714C>G (p.Ala238=)
|
rs141199649
|
0.00076
|
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
|
NM_005138.3(SCO2):c.341G>A (p.Arg114His)
|
rs145100473
|
0.00076
|
|
NM_005732.4(RAD50):c.1544A>G (p.Asp515Gly)
|
rs145843634
|
0.00076
|
|
NM_006892.4(DNMT3B):c.922-8C>T
|
rs200508870
|
0.00076
|
|
NM_017739.4(POMGNT1):c.*34G>A
|
rs200540049
|
0.00076
|
|
NM_024915.4(GRHL2):c.804C>T (p.Thr268=)
|
rs55682875
|
0.00076
|
|
NM_025215.6(PUS1):c.1008G>A (p.Glu336=)
|
rs145430883
|
0.00076
|
|
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)
|
rs139404261
|
0.00076
|
|
NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn)
|
rs181511327
|
0.00076
|
|
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)
|
rs201236317
|
0.00076
|
|
NM_032382.5(COG8):c.603G>A (p.Val201=)
|
rs141435327
|
0.00076
|
|
NM_138477.4(CDAN1):c.2662G>C (p.Asp888His)
|
rs150657573
|
0.00076
|
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
|
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)
|
rs141977229
|
0.00075
|
|
NM_000215.4(JAK3):c.1551T>A (p.Pro517=)
|
rs143936463
|
0.00075
|
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
|
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr)
|
rs147278907
|
0.00075
|
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
|
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile)
|
rs148081697
|
0.00075
|
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
|
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val)
|
rs148641361
|
0.00075
|
|
NM_003179.3(SYP):c.612G>A (p.Ser204=)
|
rs145093168
|
0.00075
|
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
|
NM_005097.4(LGI1):c.600C>T (p.Cys200=)
|
rs148862146
|
0.00075
|
|
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp)
|
rs142985827
|
0.00075
|
|
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)
|
rs77984885
|
0.00075
|
|
NM_017763.6(RNF43):c.1825C>T (p.Arg609Trp)
|
rs139405076
|
0.00075
|
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
|
NM_024589.3(ROGDI):c.783C>T (p.Phe261=)
|
rs142481526
|
0.00075
|
|
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)
|
rs149496604
|
0.00075
|
|
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)
|
rs138803855
|
0.00075
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
|
NM_000193.4(SHH):c.1078C>T (p.Leu360=)
|
rs191903572
|
0.00074
|
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
|
NM_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
|
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)
|
rs199745070
|
0.00074
|
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
|
NM_001277115.2(DNAH11):c.4202A>G (p.Gln1401Arg)
|
rs199629774
|
0.00074
|
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
|
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)
|
rs148468627
|
0.00074
|
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
|
NM_199355.4(ADAMTS18):c.37G>C (p.Ala13Pro)
|
rs751818903
|
0.00074
|
|
NM_000163.5(GHR):c.686G>A (p.Arg229His)
|
rs6177
|
0.00073
|
|
NM_000178.4(GSS):c.816T>G (p.Pro272=)
|
rs35051256
|
0.00073
|
|
NM_000260.4(MYO7A):c.3503+17G>A
|
rs369969967
|
0.00073
|
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
|
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)
|
rs143282164
|
0.00073
|
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
|
NM_001040108.2(MLH3):c.2838C>A (p.Ser946=)
|
rs181990057
|
0.00073
|
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
|
NM_001126128.2(PROK2):c.-4C>A
|
rs552496938
|
0.00073
|
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
|
NM_001164508.2(NEB):c.5763+15C>T
|
rs148455519
|
0.00073
|
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
|
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=)
|
rs138072045
|
0.00073
|
|
NM_001378414.1(HDAC4):c.681C>T (p.His227=)
|
rs148880349
|
0.00073
|
|
NM_001379180.1(ESRRB):c.414G>A (p.Val138=)
|
rs141586518
|
0.00073
|
|
NM_002473.6(MYH9):c.2871C>T (p.Ser957=)
|
rs374840260
|
0.00073
|
|
NM_003038.5(SLC1A4):c.65C>T (p.Pro22Leu)
|
rs201175768
|
0.00073
|
|
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)
|
rs201910178
|
0.00073
|
|
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)
|
rs377452989
|
0.00073
|
|
NM_003764.4(STX11):c.681C>T (p.Leu227=)
|
rs145774130
|
0.00073
|
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
|
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)
|
rs104893904
|
0.00073
|
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
|
NM_005068.3(SIM1):c.279C>T (p.Phe93=)
|
rs145361258
|
0.00073
|
|
NM_005422.4(TECTA):c.2604G>T (p.Thr868=)
|
rs139509847
|
0.00073
|
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
|
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=)
|
rs140825318
|
0.00073
|
|
NM_014908.4(DOLK):c.873C>T (p.Leu291=)
|
rs148646968
|
0.00073
|
|
NM_016529.6(ATP8A2):c.2138T>C (p.Ile713Thr)
|
rs142872070
|
0.00073
|
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00073
|
|
NM_024589.3(ROGDI):c.243C>T (p.Ala81=)
|
rs148051351
|
0.00073
|
|
NM_052945.4(TNFRSF13C):c.368-15C>A
|
rs372331667
|
0.00073
|
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
|
NM_144508.5(KNL1):c.2268A>G (p.Ser756=)
|
rs202012571
|
0.00073
|
|
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)
|
rs186865544
|
0.00073
|
|
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu)
|
rs202059499
|
0.00073
|
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
|
NM_000481.4(AMT):c.354G>A (p.Leu118=)
|
rs145194293
|
0.00072
|
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
|
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)
|
rs201400523
|
0.00072
|
|
NM_001368397.1(FRMPD4):c.2829C>T (p.Tyr943=)
|
rs140515130
|
0.00072
|
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
|
NM_004273.5(CHST3):c.1251G>C (p.Thr417=)
|
rs140411224
|
0.00072
|
|
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)
|
rs146630369
|
0.00072
|
|
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly)
|
rs140365800
|
0.00072
|
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
|
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)
|
rs547860186
|
0.00072
|
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
|
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys)
|
rs201733073
|
0.00072
|
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
|
NM_000346.4(SOX9):c.531G>A (p.Arg177=)
|
rs144824678
|
0.00071
|
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
0.00071
|
|
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=)
|
rs370427146
|
0.00071
|
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
|
NM_001379500.1(COL18A1):c.2890C>T (p.Arg964Trp)
|
rs371106773
|
0.00071
|
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
|
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)
|
rs140913030
|
0.00071
|
|
NM_004447.6(EPS8):c.1838A>G (p.Tyr613Cys)
|
rs74888964
|
0.00071
|
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
|
NM_007254.4(PNKP):c.501G>A (p.Val167=)
|
rs142143566
|
0.00071
|
|
NM_014633.5(CTR9):c.3149A>G (p.Lys1050Arg)
|
rs141131642
|
0.00071
|
|
NM_015166.4(MLC1):c.627C>T (p.Ala209=)
|
rs138153307
|
0.00071
|
|
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=)
|
rs146858888
|
0.00071
|
|
NM_018249.6(CDK5RAP2):c.1727+15C>G
|
rs188328236
|
0.00071
|
|
NM_024589.3(ROGDI):c.432+13C>T
|
rs371432203
|
0.00071
|
|
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln)
|
rs149692526
|
0.00071
|
|
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser)
|
rs147680216
|
0.00071
|
|
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)
|
rs147314430
|
0.00071
|
|
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)
|
rs143483053
|
0.00071
|
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
|
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
|
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)
|
rs111969225
|
0.00070
|
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
|
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)
|
rs145268073
|
0.00070
|
|
NM_001244710.2(GFPT1):c.224-12C>T
|
rs375455794
|
0.00070
|
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
|
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val)
|
rs200070902
|
0.00070
|
|
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)
|
rs149956015
|
0.00070
|
|
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)
|
rs143651470
|
0.00070
|
|
NM_004239.4(TRIP11):c.5057-9T>G
|
rs372161255
|
0.00070
|
|
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)
|
rs201734382
|
0.00070
|
|
NM_004525.3(LRP2):c.1176C>T (p.Gly392=)
|
rs369145798
|
0.00070
|
|
NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=)
|
rs35617833
|
0.00070
|
|
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)
|
rs139091551
|
0.00070
|
|
NM_005267.5(GJA8):c.385G>A (p.Val129Ile)
|
rs142415337
|
0.00070
|
|
NM_005534.4(IFNGR2):c.879+19del
|
rs193922682
|
0.00070
|
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
|
NM_012216.4(MID2):c.1656T>C (p.Asp552=)
|
rs150716868
|
0.00070
|
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
|
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)
|
rs34521483
|
0.00070
|
|
NM_032387.5(WNK4):c.2476G>A (p.Gly826Ser)
|
rs190384194
|
0.00070
|
|
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
|
rs138130914
|
0.00070
|
|
NM_052872.4(IL17F):c.254+1G>T
|
rs117796773
|
0.00070
|
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
|
NM_177438.3(DICER1):c.59C>T (p.Ala20Val)
|
rs147660793
|
0.00070
|
|
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)
|
rs111367233
|
0.00070
|
|
NM_199242.3(UNC13D):c.1389+12G>A
|
rs199536082
|
0.00070
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
|
NM_000383.4(AIRE):c.447G>A (p.Arg149=)
|
rs374704178
|
0.00069
|
|
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
|
rs139717960
|
0.00069
|
|
NM_000637.5(GSR):c.694G>A (p.Gly232Ser)
|
rs8190976
|
0.00069
|
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
|
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)
|
rs199794705
|
0.00069
|
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
|
NM_001486.4(GCKR):c.230A>G (p.Glu77Gly)
|
rs8179206
|
0.00069
|
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
|
NM_004407.4(DMP1):c.943G>C (p.Gly315Arg)
|
rs149603030
|
0.00069
|
|
NM_005149.3(TBX19):c.204-3T>C
|
rs200043223
|
0.00069
|
|
NM_006565.4(CTCF):c.1986C>G (p.Pro662=)
|
rs148681672
|
0.00069
|
|
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)
|
rs149605021
|
0.00069
|
|
NM_014927.5(CNKSR2):c.2199G>A (p.Thr733=)
|
rs113091231
|
0.00069
|
|
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)
|
rs201251295
|
0.00069
|
|
NM_139058.3(ARX):c.447G>C (p.Ala149=)
|
rs745705522
|
0.00069
|
|
NM_000047.3(ARSL):c.23+5G>C
|
rs200062390
|
0.00068
|
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
|
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=)
|
rs142097318
|
0.00068
|
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
|
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=)
|
rs6706924
|
0.00068
|
|
NM_001080449.3(DNA2):c.1796G>A (p.Arg599His)
|
rs201999986
|
0.00068
|
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
|
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys)
|
rs146505418
|
0.00068
|
|
NM_001161748.2(LIM2):c.57G>A (p.Leu19=)
|
rs142517355
|
0.00068
|
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
|
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)
|
rs145675502
|
0.00068
|
|
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp)
|
rs181469519
|
0.00068
|
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
|
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)
|
rs139480342
|
0.00068
|
|
NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys)
|
rs142073810
|
0.00068
|
|
NM_002474.3(MYH11):c.1871G>A (p.Arg624His)
|
rs201991156
|
0.00068
|
|
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)
|
rs374298000
|
0.00068
|
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
|
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe)
|
rs143676075
|
0.00068
|
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
|
NM_138959.3(VANGL1):c.*6794C>A
|
rs562835629
|
0.00068
|
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
|
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)
|
rs145401144
|
0.00068
|
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
|
NM_212482.4(FN1):c.5435-7T>C
|
rs202045892
|
0.00068
|
|
NM_000037.4(ANK1):c.1404+15C>T
|
rs201598401
|
0.00067
|
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
|
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)
|
rs148527903
|
0.00067
|
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
|
NM_001130438.3(SPTAN1):c.5478+12G>A
|
rs41275900
|
0.00067
|
|
NM_001130438.3(SPTAN1):c.7309-15T>C
|
rs370705867
|
0.00067
|
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
|
NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)
|
rs142752989
|
0.00067
|
|
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln)
|
rs149168939
|
0.00067
|
|
NM_001368397.1(FRMPD4):c.3738C>T (p.His1246=)
|
rs151079505
|
0.00067
|
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
|
NM_002470.4(MYH3):c.736-6A>G
|
rs372079063
|
0.00067
|
|
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val)
|
rs199838024
|
0.00067
|
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
|
NM_004403.3(GSDME):c.823A>G (p.Ile275Val)
|
rs149956122
|
0.00067
|
|
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)
|
rs28939695
|
0.00067
|
|
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu)
|
rs143773937
|
0.00067
|
|
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)
|
rs148826890
|
0.00067
|
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
|
NM_016239.4(MYO15A):c.8157C>T (p.His2719=)
|
rs373955726
|
0.00067
|
|
NM_020427.3(SLURP1):c.-7C>T
|
rs201610070
|
0.00067
|
|
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)
|
rs151130105
|
0.00067
|
|
NM_139343.3(BIN1):c.30G>A (p.Thr10=)
|
rs35535012
|
0.00067
|
|
NM_198904.4(GABRG2):c.798T>C (p.Phe266=)
|
rs115126975
|
0.00067
|
|
NM_000059.4(BRCA2):c.-15A>C
|
rs138705202
|
0.00066
|
|
NM_000130.5(F5):c.1785G>A (p.Glu595=)
|
rs112333778
|
0.00066
|
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
|
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)
|
rs75267647
|
0.00066
|
|
NM_000433.4(NCF2):c.1179-4C>G
|
rs55795842
|
0.00066
|
|
NM_000619.3(IFNG):c.-5A>G
|
rs181407537
|
0.00066
|
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
|
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
|
NM_001034116.2(EIF2B4):c.51G>C (p.Lys17Asn)
|
rs190259653
|
0.00066
|
|
NM_001035.3(RYR2):c.11557+14C>T
|
rs374155447
|
0.00066
|
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
|
NM_001127644.2(GABRA1):c.*1752G>T
|
rs41303356
|
0.00066
|
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00066
|
|
NM_001127644.2(GABRA1):c.255+12C>T
|
rs144727170
|
0.00066
|
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
|
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)
|
rs138101005
|
0.00066
|
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
|
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)
|
rs201886728
|
0.00066
|
|
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)
|
rs138217855
|
0.00066
|
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
|
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)
|
rs142228240
|
0.00066
|
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00066
|
|
NM_002473.6(MYH9):c.591G>A (p.Ser197=)
|
rs140241271
|
0.00066
|
|
NM_003072.5(SMARCA4):c.223-5C>T
|
rs376775933
|
0.00066
|
|
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser)
|
rs202016242
|
0.00066
|
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
|
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)
|
rs148185533
|
0.00066
|
|
NM_004463.3(FGD1):c.1647G>A (p.Glu549=)
|
rs142114385
|
0.00066
|
|
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)
|
rs149644947
|
0.00066
|
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
|
NM_006303.4(AIMP2):c.16G>C (p.Val6Leu)
|
rs139842556
|
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_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
|
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp)
|
rs202070666
|
0.00066
|
|
NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu)
|
rs147932653
|
0.00066
|
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
|
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)
|
rs139887370
|
0.00066
|
|
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643
|
0.00066
|
|
NM_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn)
|
rs140682366
|
0.00066
|
|
NM_000183.3(HADHB):c.900C>T (p.Tyr300=)
|
rs144093705
|
0.00065
|
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
|
NM_000660.7(TGFB1):c.918C>T (p.Leu306=)
|
rs72480429
|
0.00065
|
|
NM_001008215.3(COA5):c.*3C>G
|
rs372867268
|
0.00065
|
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
|
NM_001386298.1(CIC):c.5279C>T (p.Ala1760Val)
|
rs45596843
|
0.00065
|
|
NM_001625.4(AK2):c.614G>A (p.Gly205Glu)
|
rs202182972
|
0.00065
|
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
|
NM_004608.4(TBX6):c.585C>T (p.Val195=)
|
rs148435229
|
0.00065
|
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
|
NM_005732.4(RAD50):c.671G>A (p.Arg224His)
|
rs28903088
|
0.00065
|
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
|
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)
|
rs200280538
|
0.00065
|
|
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)
|
rs61750324
|
0.00065
|
|
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)
|
rs140286824
|
0.00065
|
|
NM_170754.4(TNS2):c.141A>G (p.Ala47=)
|
rs113829803
|
0.00065
|
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
|
NM_000026.4(ADSL):c.403-4G>A
|
rs373652667
|
0.00064
|
|
NM_000037.4(ANK1):c.2196+6G>A
|
rs200761553
|
0.00064
|
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
|
NM_000334.4(SCN4A):c.3774+8G>A
|
rs374806849
|
0.00064
|
|
NM_000397.4(CYBB):c.338-13C>T
|
rs193922447
|
0.00064
|
|
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)
|
rs70940811
|
0.00064
|
|
NM_001166108.2(PALLD):c.365C>T (p.Pro122Leu)
|
rs116158771
|
0.00064
|
|
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=)
|
rs144131971
|
0.00064
|
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00064
|
|
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)
|
rs148584272
|
0.00064
|
|
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)
|
rs200596739
|
0.00064
|
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
|
NM_006922.4(SCN3A):c.44G>A (p.Arg15His)
|
rs139769668
|
0.00064
|
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
|
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_012092.4(ICOS):c.375A>G (p.Gly125=)
|
rs768500706
|
0.00064
|
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
|
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)
|
rs143590990
|
0.00064
|
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
|
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His)
|
rs180748688
|
0.00064
|
|
NM_201253.3(CRB1):c.1647T>C (p.Asn549=)
|
rs62636283
|
0.00064
|
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
|
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu)
|
rs145562489
|
0.00063
|
|
NM_000217.3(KCNA1):c.611G>A (p.Arg204His)
|
rs2229000
|
0.00063
|
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
|
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)
|
rs779791579
|
0.00063
|
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
|
NM_000377.3(WAS):c.538C>A (p.His180Asn)
|
rs145040665
|
0.00063
|
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
|
NM_000507.4(FBP1):c.334-15T>C
|
rs370920869
|
0.00063
|
|
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)
|
rs200330469
|
0.00063
|
|
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=)
|
rs138771137
|
0.00063
|
|
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)
|
rs201086495
|
0.00063
|
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00063
|
|
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)
|
rs374780430
|
0.00063
|
|
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)
|
rs199827465
|
0.00063
|
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00063
|
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00063
|
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
|
NM_003849.4(SUCLG1):c.202-4T>C
|
rs141973418
|
0.00063
|
|
NM_004304.5(ALK):c.932G>A (p.Arg311His)
|
rs150966028
|
0.00063
|
|
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
|
rs199538589
|
0.00063
|
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
|
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)
|
rs142433421
|
0.00063
|
|
NM_006516.4(SLC2A1):c.276-7T>C
|
rs369273744
|
0.00063
|
|
NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=)
|
rs370111987
|
0.00063
|
|
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)
|
rs146244319
|
0.00063
|
|
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=)
|
rs143286960
|
0.00063
|
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
|
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)
|
rs7229488
|
0.00063
|
|
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys)
|
rs201618718
|
0.00063
|
|
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)
|
rs140817689
|
0.00063
|
|
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser)
|
rs555920534
|
0.00063
|
|
NM_019885.4(CYP26B1):c.1414C>T (p.Pro472Ser)
|
rs146011965
|
0.00063
|
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
|
NM_133497.4(KCNV2):c.756G>A (p.Lys252=)
|
rs138861317
|
0.00063
|
|
NM_199242.3(UNC13D):c.858+12A>C
|
rs191712530
|
0.00063
|
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
|
NM_001136472.2(LITAF):c.330C>T (p.Asn110=)
|
rs139116481
|
0.00062
|
|
NM_001142864.4(PIEZO1):c.6661-12T>G
|
rs540049109
|
0.00062
|
|
NM_001164688.2(RD3):c.519G>A (p.Val173=)
|
rs139419737
|
0.00062
|
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
|
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr)
|
rs2234933
|
0.00062
|
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
|
NM_001332.4(CTNND2):c.803C>A (p.Pro268Gln)
|
rs765655737
|
0.00062
|
|
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=)
|
rs140332932
|
0.00062
|
|
NM_002303.6(LEPR):c.3247A>G (p.Thr1083Ala)
|
rs149329546
|
0.00062
|
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00062
|
|
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe)
|
rs148426950
|
0.00062
|
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
|
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)
|
rs118064970
|
0.00062
|
|
NM_012268.4(PLD3):c.851A>G (p.Asn284Ser)
|
rs200274020
|
0.00062
|
|
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)
|
rs151051452
|
0.00062
|
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
|
NM_021072.4(HCN1):c.1619-3T>C
|
rs376434225
|
0.00062
|
|
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)
|
rs147091667
|
0.00062
|
|
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=)
|
rs138702144
|
0.00062
|
|
NM_000136.3(FANCC):c.1329+212C>T
|
rs41281200
|
0.00061
|
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
|
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe)
|
rs146723506
|
0.00061
|
|
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=)
|
rs144228973
|
0.00061
|
|
NM_001032382.2(PQBP1):c.*6C>T
|
rs181088115
|
0.00061
|
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
|
NM_001126108.2(SLC12A3):c.2285+8G>A
|
rs199854613
|
0.00061
|
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
|
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)
|
rs140941507
|
0.00061
|
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
|
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)
|
rs146362213
|
0.00061
|
|
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)
|
rs367949317
|
0.00061
|
|
NM_001367624.2(ZNF469):c.7573C>G (p.Pro2525Ala)
|
rs574478833
|
0.00061
|
|
NM_001367624.2(ZNF469):c.8860T>C (p.Trp2954Arg)
|
rs557063759
|
0.00061
|
|
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val)
|
rs767058690
|
0.00061
|
|
NM_001378120.1(MBD5):c.-831+9dup
|
rs796052705
|
0.00061
|
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
|
NM_001394962.1(KIAA1210):c.3347T>C (p.Leu1116Pro)
|
rs200015496
|
0.00061
|
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
|
NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser)
|
rs117077093
|
0.00061
|
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
|
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu)
|
rs201581582
|
0.00061
|
|
NM_004463.3(FGD1):c.622T>C (p.Ser208Pro)
|
rs148139633
|
0.00061
|
|
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)
|
rs143180998
|
0.00061
|
|
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val)
|
rs147889360
|
0.00061
|
|
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr)
|
rs140470576
|
0.00061
|
|
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=)
|
rs138152469
|
0.00061
|
|
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)
|
rs139368531
|
0.00061
|
|
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp)
|
rs150607879
|
0.00061
|
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
|
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val)
|
rs61756249
|
0.00061
|
|
NM_014264.5(PLK4):c.1830+7C>G
|
rs367752526
|
0.00061
|
|
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)
|
rs374146357
|
0.00061
|
|
NM_016341.4(PLCE1):c.3814+13T>G
|
rs199705167
|
0.00061
|
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
|
NM_019892.6(INPP5E):c.813-8C>T
|
rs373176644
|
0.00061
|
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
|
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=)
|
rs148451236
|
0.00061
|
|
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)
|
rs139945733
|
0.00061
|
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
|
NM_080916.3(DGUOK):c.708-3T>C
|
rs370071744
|
0.00061
|
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
|
NM_199334.5(THRA):c.577-4C>T
|
rs188965373
|
0.00061
|
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
|
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)
|
rs150526992
|
0.00060
|
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
|
NM_001105206.3(LAMA4):c.196-15G>C
|
rs371906362
|
0.00060
|
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
|
NM_005502.4(ABCA1):c.99A>G (p.Leu33=)
|
rs141151519
|
0.00060
|
|
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys)
|
rs200132571
|
0.00060
|
|
NM_007272.3(CTRC):c.640-14C>T
|
rs202049497
|
0.00060
|
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
|
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=)
|
rs61736585
|
0.00060
|
|
NM_018319.4(TDP1):c.1800G>A (p.Thr600=)
|
rs75808917
|
0.00060
|
|
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)
|
rs191798831
|
0.00060
|
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
|
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln)
|
rs141317462
|
0.00060
|
|
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)
|
rs376401006
|
0.00060
|
|
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)
|
rs199833843
|
0.00060
|
|
NM_153676.4(USH1C):c.360C>T (p.Gly120=)
|
rs140869579
|
0.00060
|
|
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile)
|
rs56309455
|
0.00059
|
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
|
NM_000237.3(LPL):c.542-8C>T
|
rs201634558
|
0.00059
|
|
NM_000312.4(PROC):c.30C>T (p.Phe10=)
|
rs148490199
|
0.00059
|
|
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)
|
rs185941768
|
0.00059
|
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
|
NM_000733.4(CD3E):c.408G>A (p.Val136=)
|
rs143868906
|
0.00059
|
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
|
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198
|
0.00059
|
|
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=)
|
rs55640811
|
0.00059
|
|
NM_001349253.2(SCN11A):c.95C>T (p.Ala32Val)
|
rs150835546
|
0.00059
|
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
|
NM_004035.7(ACOX1):c.1478+13T>C
|
rs199908120
|
0.00059
|
|
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)
|
rs147641617
|
0.00059
|
|
NM_006420.3(ARFGEF2):c.1185C>T (p.Asp395=)
|
rs140378669
|
0.00059
|
|
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr)
|
rs191531119
|
0.00059
|
|
NM_007327.4(GRIN1):c.768G>C (p.Gly256=)
|
rs141473515
|
0.00059
|
|
NM_015634.4(KIFBP):c.78A>G (p.Lys26=)
|
rs144067344
|
0.00059
|
|
NM_015909.4(NBAS):c.392C>T (p.Pro131Leu)
|
rs114603112
|
0.00059
|
|
NM_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu)
|
rs201693932
|
0.00059
|
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
|
NM_024589.3(ROGDI):c.567G>A (p.Leu189=)
|
rs143000899
|
0.00059
|
|
NM_030632.3(ASXL3):c.1707C>T (p.Thr569=)
|
rs371181408
|
0.00059
|
|
NM_183357.3(ADCY5):c.3336C>T (p.Ser1112=)
|
rs141922371
|
0.00059
|
|
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn)
|
rs111033352
|
0.00059
|
|
NM_199242.3(UNC13D):c.1174-15C>G
|
rs374069629
|
0.00059
|
|
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)
|
rs146115467
|
0.00058
|
|
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)
|
rs140770089
|
0.00058
|
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
|
NM_000975.5(RPL11):c.396+9A>G
|
rs201786327
|
0.00058
|
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
|
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His)
|
rs200555745
|
0.00058
|
|
NM_001159773.2(CANT1):c.966C>T (p.Ser322=)
|
rs140989921
|
0.00058
|
|
NM_001166114.2(PNPLA6):c.3914-11C>T
|
rs371325894
|
0.00058
|
|
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)
|
rs145300090
|
0.00058
|
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
|
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=)
|
rs201045619
|
0.00058
|
|
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)
|
rs771000169
|
0.00058
|
|
NM_001374736.1(DST):c.2042G>A (p.Arg681His)
|
rs143101723
|
0.00058
|
|
NM_001482.3(GATM):c.*27C>G
|
rs200143728
|
0.00058
|
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
|
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met)
|
rs189301790
|
0.00058
|
|
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp)
|
rs202156491
|
0.00058
|
|
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
|
NM_004793.4(LONP1):c.527C>T (p.Ser176Leu)
|
rs139555567
|
0.00058
|
|
NM_004937.3(CTNS):c.534C>T (p.Ile178=)
|
rs113967200
|
0.00058
|
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
|
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)
|
rs377121179
|
0.00058
|
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00058
|
|
NM_016824.5(ADD3):c.1596T>A (p.Asp532Glu)
|
rs143966199
|
0.00058
|
|
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)
|
rs35582308
|
0.00058
|
|
NM_022114.4(PRDM16):c.38-14G>A
|
rs368409902
|
0.00058
|
|
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
|
rs113856002
|
0.00058
|
|
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=)
|
rs148948607
|
0.00058
|
|
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=)
|
rs149906722
|
0.00058
|
|
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)
|
rs139019255
|
0.00058
|
|
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln)
|
rs201560745
|
0.00058
|
|
NM_032601.4(MCEE):c.312T>G (p.Arg104=)
|
rs142838031
|
0.00058
|
|
NM_080424.4(SP110):c.1591-9C>T
|
rs202101309
|
0.00058
|
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
|
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)
|
rs149600313
|
0.00058
|
|
NM_173076.3(ABCA12):c.5221C>T (p.Arg1741Cys)
|
rs141036904
|
0.00058
|
|
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
|
rs34778348
|
0.00058
|
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
|
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=)
|
rs55978207
|
0.00057
|
|
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His)
|
rs139014122
|
0.00057
|
|
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)
|
rs113663584
|
0.00057
|
|
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly)
|
rs199473068
|
0.00057
|
|
NM_000349.3(STAR):c.179-14G>A
|
rs117578796
|
0.00057
|
|
NM_000358.3(TGFBI):c.678C>T (p.Asn226=)
|
rs369362360
|
0.00057
|
|
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)
|
rs1800578
|
0.00057
|
|
NM_000439.5(PCSK1):c.1030G>A (p.Ala344Thr)
|
rs189927028
|
0.00057
|
|
NM_000460.4(THPO):c.639T>A (p.Thr213=)
|
rs1042348
|
0.00057
|
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
|
NM_000751.3(CHRND):c.1253-9C>T
|
rs2853458
|
0.00057
|
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
|
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser)
|
rs202085145
|
0.00057
|
|
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser)
|
rs78119534
|
0.00057
|
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
|
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His)
|
rs577357377
|
0.00057
|
|
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=)
|
rs190978463
|
0.00057
|
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
|
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)
|
rs200121902
|
0.00057
|
|
NM_001289104.2(PRKCSH):c.1055C>T (p.Pro352Leu)
|
rs201537803
|
0.00057
|
|
NM_001330078.2(NRXN1):c.24C>T (p.Arg8=)
|
rs200113281
|
0.00057
|
|
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=)
|
rs79832792
|
0.00057
|
|
NM_001386393.1(PANK2):c.298+15G>C
|
rs566953264
|
0.00057
|
|
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
|
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)
|
rs143948239
|
0.00057
|
|
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)
|
rs142524280
|
0.00057
|
|
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr)
|
rs142830104
|
0.00057
|
|
NM_052867.4(NALCN):c.3843G>A (p.Thr1281=)
|
rs151200877
|
0.00057
|
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
|
NM_199242.3(UNC13D):c.2710-8C>G
|
rs545824447
|
0.00057
|
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
|
NM_000313.4(PROS1):c.76+7A>G
|
rs201928951
|
0.00056
|
|
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=)
|
rs76302654
|
0.00056
|
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
|
NM_000538.4(RFXAP):c.312C>T (p.Ser104=)
|
rs373233313
|
0.00056
|
|
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu)
|
rs538640563
|
0.00056
|
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
|
NM_001278064.2(GRM1):c.2581G>A (p.Gly861Ser)
|
rs143544032
|
0.00056
|
|
NM_001292063.2(OTOG):c.7534C>T (p.Arg2512Cys)
|
rs533820347
|
0.00056
|
|
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=)
|
rs145146059
|
0.00056
|
|
NM_001397406.1(FDX2):c.201-8G>A
|
rs201352690
|
0.00056
|
|
NM_001605.3(AARS1):c.600C>T (p.Ala200=)
|
rs150080663
|
0.00056
|
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
|
NM_001953.5(TYMP):c.1295G>A (p.Arg432His)
|
rs551975117
|
0.00056
|
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
|
NM_004006.3(DMD):c.8436T>C (p.Leu2812=)
|
rs139365076
|
0.00056
|
|
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser)
|
rs181854355
|
0.00056
|
|
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)
|
rs140929639
|
0.00056
|
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
|
NM_005502.4(ABCA1):c.5636+18A>C
|
rs111671370
|
0.00056
|
|
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)
|
rs147766428
|
0.00056
|
|
NM_012144.4(DNAI1):c.1923C>T (p.His641=)
|
rs145218397
|
0.00056
|
|
NM_016953.4(PDE11A):c.171del (p.Thr58fs)
|
rs529789124
|
0.00056
|
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
|
NM_020778.5(ALPK3):c.3401C>T (p.Ala1134Val)
|
rs139666355
|
0.00056
|
|
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)
|
rs200202953
|
0.00056
|
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
|
NM_138711.6(PPARG):c.348T>C (p.Ala116=)
|
rs147975759
|
0.00056
|
|
NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp)
|
rs143558316
|
0.00056
|
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00056
|
|
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=)
|
rs372034111
|
0.00056
|
|
NM_000202.8(IDS):c.781C>G (p.Pro261Ala)
|
rs141720810
|
0.00055
|
|
NM_000245.4(MET):c.71G>A (p.Gly24Glu)
|
rs180985111
|
0.00055
|
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
|
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
|
rs199868951
|
0.00055
|
|
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)
|
rs150874422
|
0.00055
|
|
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln)
|
rs2480373
|
0.00055
|
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
|
NM_001297.5(CNGB1):c.2370-9C>T
|
rs374373659
|
0.00055
|
|
NM_001367805.3(KIF23):c.213T>C (p.Thr71=)
|
rs145233110
|
0.00055
|
|
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn)
|
rs374989034
|
0.00055
|
|
NM_001614.5(ACTG1):c.228C>T (p.Val76=)
|
rs143028649
|
0.00055
|
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
|
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)
|
rs139776370
|
0.00055
|
|
NM_004341.5(CAD):c.495+7A>T
|
rs369739874
|
0.00055
|
|
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)
|
rs140272085
|
0.00055
|
|
NM_004972.4(JAK2):c.2538G>C (p.Glu846Asp)
|
rs150221602
|
0.00055
|
|
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln)
|
rs139283183
|
0.00055
|
|
NM_014208.3(DSPP):c.768C>T (p.Asp256=)
|
rs374400491
|
0.00055
|
|
NM_015160.3(PMPCA):c.476G>T (p.Gly159Val)
|
rs143813417
|
0.00055
|
|
NM_020297.4(ABCC9):c.2770-13A>G
|
rs184123387
|
0.00055
|
|
NM_024675.4(PALB2):c.2749-18C>T
|
rs182194007
|
0.00055
|
|
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)
|
rs143204084
|
0.00055
|
|
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu)
|
rs147286623
|
0.00055
|
|
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=)
|
rs373646325
|
0.00055
|
|
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)
|
rs35658131
|
0.00055
|
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
|
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu)
|
rs201578201
|
0.00054
|
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
|
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
|
NM_000553.6(WRN):c.3453G>A (p.Glu1151=)
|
rs144116311
|
0.00054
|
|
NM_000815.5(GABRD):c.1060-7C>T
|
rs368961588
|
0.00054
|
|
NM_001040142.2(SCN2A):c.2388+9C>A
|
rs191955969
|
0.00054
|
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
|
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)
|
rs202209668
|
0.00054
|
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
|
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=)
|
rs56375542
|
0.00054
|
|
NM_002303.6(LEPR):c.3078T>C (p.Asn1026=)
|
rs34130975
|
0.00054
|
|
NM_002303.6(LEPR):c.658G>A (p.Val220Ile)
|
rs148349369
|
0.00054
|
|
NM_002473.6(MYH9):c.1566G>A (p.Pro522=)
|
rs145517108
|
0.00054
|
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
|
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)
|
rs78598639
|
0.00054
|
|
NM_003465.3(CHIT1):c.1044G>T (p.Lys348Asn)
|
rs140228721
|
0.00054
|
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
|
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)
|
rs147904018
|
0.00054
|
|
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu)
|
rs140733978
|
0.00054
|
|
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)
|
rs141651423
|
0.00054
|
|
NM_004793.4(LONP1):c.83G>C (p.Gly28Ala)
|
rs541961432
|
0.00054
|
|
NM_005506.4(SCARB2):c.486C>T (p.Ala162=)
|
rs143518519
|
0.00054
|
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
|
NM_007294.4(BRCA1):c.301+8T>C
|
rs80358101
|
0.00054
|
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
|
NM_020778.5(ALPK3):c.1900C>T (p.Arg634Cys)
|
rs201086326
|
0.00054
|
|
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs)
|
rs541606391
|
0.00054
|
|
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)
|
rs150920473
|
0.00054
|
|
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)
|
rs150331504
|
0.00054
|
|
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
|
rs200461617
|
0.00054
|
|
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly)
|
rs138797058
|
0.00054
|
|
NM_182961.4(SYNE1):c.1730-7G>A
|
rs367603152
|
0.00054
|
|
NM_000018.4(ACADVL):c.63-35G>A
|
rs774905326
|
0.00053
|
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
|
NM_000261.2(MYOC):c.648G>A (p.Lys216=)
|
rs141584495
|
0.00053
|
|
NM_000390.4(CHM):c.1244+8T>A
|
rs369829791
|
0.00053
|
|
NM_000391.3(TPP1):c.-40T>C
|
rs200184958
|
0.00053
|
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
|
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)
|
rs1003914966
|
0.00053
|
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
|
NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser)
|
rs187533108
|
0.00053
|
|
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)
|
rs145005596
|
0.00053
|
|
NM_001367624.2(ZNF469):c.697G>A (p.Asp233Asn)
|
rs538330967
|
0.00053
|
|
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)
|
rs137964936
|
0.00053
|
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
|
NM_003465.3(CHIT1):c.513G>T (p.Gln171His)
|
rs12562058
|
0.00053
|
|
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=)
|
rs377392943
|
0.00053
|
|
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser)
|
rs200089754
|
0.00053
|
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
|
NM_006009.4(TUBA1A):c.4-7C>T
|
rs560491477
|
0.00053
|
|
NM_006922.4(SCN3A):c.1381-4A>G
|
rs199597878
|
0.00053
|
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
|
NM_016239.4(MYO15A):c.3359G>A (p.Arg1120His)
|
rs200738532
|
0.00053
|
|
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)
|
rs146284370
|
0.00053
|
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
|
NM_031276.3(TEX11):c.466A>G (p.Met156Val)
|
rs143246552
|
0.00053
|
|
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr)
|
rs200576500
|
0.00053
|
|
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu)
|
rs149481227
|
0.00053
|
|
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu)
|
rs147393144
|
0.00053
|
|
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=)
|
rs147495708
|
0.00053
|
|
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
|
rs200831987
|
0.00052
|
|
NM_000186.4(CFH):c.245-15T>C
|
rs200079172
|
0.00052
|
|
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
|
rs140936904
|
0.00052
|
|
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)
|
rs139323683
|
0.00052
|
|
NM_000637.5(GSR):c.493-18T>G
|
rs8190972
|
0.00052
|
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
|
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)
|
rs144045691
|
0.00052
|
|
NM_001098511.3(KIF2A):c.48G>A (p.Glu16=)
|
rs533812435
|
0.00052
|
|
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=)
|
rs367905297
|
0.00052
|
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
|
NM_002087.4(GRN):c.393C>G (p.Phe131Leu)
|
rs149180605
|
0.00052
|
|
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)
|
rs143754727
|
0.00052
|
|
NM_004444.5(EPHB4):c.1692-6C>A
|
rs202035530
|
0.00052
|
|
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln)
|
rs115308424
|
0.00052
|
|
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)
|
rs199798449
|
0.00052
|
|
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His)
|
rs151045115
|
0.00052
|
|
NM_014319.5(LEMD3):c.292C>T (p.Leu98Phe)
|
rs571742271
|
0.00052
|
|
NM_014332.3(SMPX):c.132G>A (p.Glu44=)
|
rs199907508
|
0.00052
|
|
NM_014915.3(ANKRD26):c.1998A>G (p.Lys666=)
|
rs372489280
|
0.00052
|
|
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)
|
rs200121200
|
0.00052
|
|
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr)
|
rs145334570
|
0.00052
|
|
NM_020821.3(VPS13C):c.2270A>G (p.Gln757Arg)
|
rs140060073
|
0.00052
|
|
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)
|
rs150716811
|
0.00052
|
|
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)
|
rs150854966
|
0.00052
|
|
NM_022464.5(SIL1):c.573G>A (p.Lys191=)
|
rs148927511
|
0.00052
|
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
|
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)
|
rs148335285
|
0.00052
|
|
NM_139017.7(IL31RA):c.709G>A (p.Val237Ile)
|
rs144829917
|
0.00052
|
|
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg)
|
rs201020526
|
0.00052
|
|
NM_000178.4(GSS):c.1203C>T (p.Ile401=)
|
rs138574949
|
0.00051
|
|
NM_000190.4(HMBS):c.257A>T (p.Glu86Val)
|
rs150763621
|
0.00051
|
|
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp)
|
rs187912365
|
0.00051
|
|
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)
|
rs140927806
|
0.00051
|
|
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)
|
rs121912759
|
0.00051
|
|
NM_000372.5(TYR):c.504C>T (p.Asn168=)
|
rs148813091
|
0.00051
|
|
NM_000381.4(MID1):c.1489C>T (p.Leu497=)
|
rs138629923
|
0.00051
|
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353
|
0.00051
|
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
|
NM_000787.4(DBH):c.1788C>T (p.Cys596=)
|
rs61729385
|
0.00051
|
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
|
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)
|
rs370297602
|
0.00051
|
|
NM_001040616.3(LINS1):c.864C>T (p.Thr288=)
|
rs150775570
|
0.00051
|
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
|
NM_001083961.2(WDR62):c.477G>A (p.Ala159=)
|
rs146485488
|
0.00051
|
|
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)
|
rs139814109
|
0.00051
|
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
|
NM_001267550.2(TTN):c.33827-8C>T
|
rs371318311
|
0.00051
|
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
|
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)
|
rs201727684
|
0.00051
|
|
NM_001330260.2(SCN8A):c.1677C>T (p.His559=)
|
rs202212399
|
0.00051
|
|
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=)
|
rs146561732
|
0.00051
|
|
NM_001355436.2(SPTB):c.774G>A (p.Thr258=)
|
rs12435635
|
0.00051
|
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
|
NM_001379610.1(SPINK1):c.-22C>T
|
rs190219062
|
0.00051
|
|
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=)
|
rs201575114
|
0.00051
|
|
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)
|
rs144887329
|
0.00051
|
|
NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly)
|
rs150801397
|
0.00051
|
|
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)
|
rs112467954
|
0.00051
|
|
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)
|
rs143583842
|
0.00051
|
|
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp)
|
rs201114196
|
0.00051
|
|
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr)
|
rs186012808
|
0.00051
|
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
|
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)
|
rs78936193
|
0.00051
|
|
NM_006623.4(PHGDH):c.834C>A (p.Val278=)
|
rs147866831
|
0.00051
|
|
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=)
|
rs141277535
|
0.00051
|
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
|
NM_014000.3(VCL):c.2521G>C (p.Asp841His)
|
rs150385900
|
0.00051
|
|
NM_014014.5(SNRNP200):c.4935G>A (p.Val1645=)
|
rs375650263
|
0.00051
|
|
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)
|
rs143290224
|
0.00051
|
|
NM_014727.3(KMT2B):c.221G>A (p.Arg74His)
|
rs769345523
|
0.00051
|
|
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)
|
rs77170608
|
0.00051
|
|
NM_020297.4(ABCC9):c.372T>C (p.Asn124=)
|
rs377384557
|
0.00051
|
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00051
|
|
NM_030632.3(ASXL3):c.1454A>G (p.Asn485Ser)
|
rs151027205
|
0.00051
|
|
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)
|
rs113107733
|
0.00051
|
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
|
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln)
|
rs182683822
|
0.00051
|
|
NM_199242.3(UNC13D):c.2553+5C>G
|
rs201930023
|
0.00051
|
|
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)
|
rs199879193
|
0.00051
|
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
|
NM_000041.4(APOE):c.761T>A (p.Val254Glu)
|
rs199768005
|
0.00050
|
|
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys)
|
rs147633212
|
0.00050
|
|
NM_000484.4(APP):c.1810G>A (p.Val604Met)
|
rs199887707
|
0.00050
|
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
|
NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys)
|
rs749409983
|
0.00050
|
|
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)
|
rs142311664
|
0.00050
|
|
NM_001146079.2(CLDN14):c.690C>T (p.His230=)
|
rs149733854
|
0.00050
|
|
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser)
|
rs143165174
|
0.00050
|
|
NM_001202.6(BMP4):c.345C>T (p.Asn115=)
|
rs143687498
|
0.00050
|
|
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln)
|
rs200326353
|
0.00050
|
|
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val)
|
rs201174456
|
0.00050
|
|
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)
|
rs199940188
|
0.00050
|
|
NM_004700.4(KCNQ4):c.708+9T>A
|
rs191389529
|
0.00050
|
|
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)
|
rs7238500
|
0.00050
|
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
|
NM_020884.7(MYH7B):c.5372A>C (p.Lys1791Thr)
|
rs191392262
|
0.00050
|
|
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)
|
rs144047610
|
0.00050
|
|
NM_031407.7(HUWE1):c.654T>C (p.Ser218=)
|
rs148129382
|
0.00050
|
|
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)
|
rs150785666
|
0.00050
|
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
|
NM_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
|
NM_001037.5(SCN1B):c.448+112G>A
|
rs72558026
|
0.00049
|
|
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
|
rs2303603
|
0.00049
|
|
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys)
|
rs200239095
|
0.00049
|
|
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)
|
rs141975755
|
0.00049
|
|
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)
|
rs202083639
|
0.00049
|
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
|
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)
|
rs369440319
|
0.00049
|
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
|
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=)
|
rs144424662
|
0.00049
|
|
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=)
|
rs115145637
|
0.00049
|
|
NM_001384140.1(PCDH15):c.4671+1046A>G
|
rs201855435
|
0.00049
|
|
NM_001710.6(CFB):c.658+7T>C
|
rs541260302
|
0.00049
|
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
|
NM_002529.4(NTRK1):c.1252-15C>G
|
rs186649954
|
0.00049
|
|
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00049
|
|
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)
|
rs201601992
|
0.00049
|
|
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)
|
rs201253322
|
0.00049
|
|
NM_004407.4(DMP1):c.1107C>T (p.Asp369=)
|
rs147451774
|
0.00049
|
|
NM_004517.4(ILK):c.157T>A (p.Leu53Met)
|
rs200336608
|
0.00049
|
|
NM_004531.5(MOCS2):c.296C>T (p.Ala99Val)
|
rs2233217
|
0.00049
|
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
|
NM_005535.3(IL12RB1):c.1327+9C>A
|
rs185883069
|
0.00049
|
|
NM_005886.3(KATNB1):c.1046+9C>G
|
rs372112294
|
0.00049
|
|
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala)
|
rs5744948
|
0.00049
|
|
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=)
|
rs369391284
|
0.00049
|
|
NM_006767.4(LZTR1):c.652-10C>A
|
rs200169897
|
0.00049
|
|
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp)
|
rs149813580
|
0.00049
|
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
|
NM_017763.6(RNF43):c.319G>A (p.Val107Ile)
|
rs199909371
|
0.00049
|
|
NM_025074.7(FRAS1):c.5725G>A (p.Val1909Ile)
|
rs182652779
|
0.00049
|
|
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)
|
rs139091750
|
0.00049
|
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00049
|
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
|
NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu)
|
rs201685731
|
0.00049
|
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
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_000098.3(CPT2):c.1598T>C (p.Val533Ala)
|
rs144703247
|
0.00048
|
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
|
NM_000137.4(FAH):c.81+12G>A
|
rs200319726
|
0.00048
|
|
NM_000162.5(GCK):c.483+26C>A
|
rs142668032
|
0.00048
|
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
|
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys)
|
rs199713025
|
0.00048
|
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
|
NM_000503.6(EYA1):c.1699-8T>C
|
rs201537030
|
0.00048
|
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
|
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile)
|
rs41555714
|
0.00048
|
|
NM_001080414.4(CCDC88C):c.3981C>T (p.Leu1327=)
|
rs201259963
|
0.00048
|
|
NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)
|
rs148871144
|
0.00048
|
|
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)
|
rs142199602
|
0.00048
|
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
|
NM_001134363.3(RBM20):c.*1360G>A
|
rs572337036
|
0.00048
|
|
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu)
|
rs202099525
|
0.00048
|
|
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)
|
rs373587647
|
0.00048
|
|
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=)
|
rs142910512
|
0.00048
|
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00048
|
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
0.00048
|
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
|
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)
|
rs147454311
|
0.00048
|
|
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys)
|
rs147588579
|
0.00048
|
|
NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
|
NM_004187.5(KDM5C):c.465C>T (p.Ser155=)
|
rs138520224
|
0.00048
|
|
NM_004268.5(MED17):c.1748G>A (p.Arg583His)
|
rs548231700
|
0.00048
|
|
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)
|
rs370388701
|
0.00048
|
|
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)
|
rs147012050
|
0.00048
|
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
|
NM_006922.4(SCN3A):c.642G>A (p.Ala214=)
|
rs575814709
|
0.00048
|
|
NM_012213.3(MLYCD):c.1098C>T (p.Ile366=)
|
rs199549095
|
0.00048
|
|
NM_014008.5(CCDC22):c.901T>C (p.Phe301Leu)
|
rs147674513
|
0.00048
|
|
NM_018006.5(TRMU):c.772+8G>A
|
rs201372242
|
0.00048
|
|
NM_018129.4(PNPO):c.723C>G (p.Ser241=)
|
rs144362146
|
0.00048
|
|
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)
|
rs554853074
|
0.00048
|
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00048
|
|
NM_021044.4(DHH):c.228C>T (p.Asp76=)
|
rs201597166
|
0.00048
|
|
NM_022124.6(CDH23):c.1078C>T (p.Leu360=)
|
rs185917383
|
0.00048
|
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00048
|
|
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)
|
rs80358349
|
0.00048
|
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
|
NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys)
|
rs61734296
|
0.00048
|
|
NM_170665.4(ATP2A2):c.94C>T (p.Leu32Phe)
|
rs141335001
|
0.00048
|
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
|
NM_170754.4(TNS2):c.3248G>A (p.Gly1083Glu)
|
rs139881378
|
0.00048
|
|
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)
|
rs67608943
|
0.00048
|
|
NM_201384.3(PLEC):c.963C>T (p.Phe321=)
|
rs368425406
|
0.00048
|
|
NM_205836.3(FBXO38):c.2146A>G (p.Ser716Gly)
|
rs150893158
|
0.00048
|
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
|
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)
|
rs11571832
|
0.00047
|
|
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)
|
rs201414567
|
0.00047
|
|
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
|
rs141336681
|
0.00047
|
|
NM_000208.4(INSR):c.41T>C (p.Leu14Pro)
|
rs745857330
|
0.00047
|
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
|
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)
|
rs113174390
|
0.00047
|
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
|
NM_001277115.2(DNAH11):c.13050-12C>T
|
rs187048874
|
0.00047
|
|
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr)
|
rs374033085
|
0.00047
|
|
NM_001395413.1(POR):c.633-5C>G
|
rs72555509
|
0.00047
|
|
NM_001395656.1(ROBO2):c.3267G>A (p.Thr1089=)
|
rs200783298
|
0.00047
|
|
NM_001994.3(F13B):c.1089A>C (p.Ala363=)
|
rs117019969
|
0.00047
|
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
|
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=)
|
rs201709328
|
0.00047
|
|
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)
|
rs144275591
|
0.00047
|
|
NM_004972.4(JAK2):c.1711G>A (p.Gly571Ser)
|
rs139504737
|
0.00047
|
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
|
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
|
rs144284975
|
0.00047
|
|
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=)
|
rs61753580
|
0.00047
|
|
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys)
|
rs147854826
|
0.00047
|
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
|
NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=)
|
rs202042951
|
0.00047
|
|
NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu)
|
rs140628687
|
0.00047
|
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
|
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
|
rs371513491
|
0.00046
|
|
NM_000274.4(OAT):c.1015-6A>G
|
rs561800688
|
0.00046
|
|
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)
|
rs112209600
|
0.00046
|
|
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly)
|
rs138592626
|
0.00046
|
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
|
NM_000452.3(SLC10A2):c.80A>G (p.Asn27Ser)
|
rs147075283
|
0.00046
|
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
|
NM_000628.5(IL10RB):c.174-14T>G
|
rs200472684
|
0.00046
|
|
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=)
|
rs149142237
|
0.00046
|
|
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)
|
rs972049140
|
0.00046
|
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
|
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
0.00046
|
|
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln)
|
rs369153778
|
0.00046
|
|
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val)
|
rs150328852
|
0.00046
|
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
|
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala)
|
rs141807661
|
0.00046
|
|
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)
|
rs200451158
|
0.00046
|
|
NM_001367805.3(KIF23):c.1265G>A (p.Arg422Gln)
|
rs150307169
|
0.00046
|
|
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu)
|
rs73174429
|
0.00046
|
|
NM_001848.3(COL6A1):c.738+14C>T
|
rs374896651
|
0.00046
|
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
|
NM_001994.3(F13B):c.986-4T>C
|
rs76405247
|
0.00046
|
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
|
NM_004006.3(DMD):c.3162+4A>G
|
rs189048508
|
0.00046
|
|
NM_004006.3(DMD):c.4072-245C>T
|
rs140237546
|
0.00046
|
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
|
NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
|
NM_005422.4(TECTA):c.2638A>G (p.Thr880Ala)
|
rs143315827
|
0.00046
|
|
NM_005422.4(TECTA):c.3704A>G (p.Asn1235Ser)
|
rs200852252
|
0.00046
|
|
NM_005422.4(TECTA):c.3896A>G (p.Gln1299Arg)
|
rs137916023
|
0.00046
|
|
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)
|
rs199632510
|
0.00046
|
|
NM_006086.4(TUBB3):c.1287G>A (p.Thr429=)
|
rs142238093
|
0.00046
|
|
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser)
|
rs151221957
|
0.00046
|
|
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)
|
rs199904356
|
0.00046
|
|
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981
|
0.00046
|
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
|
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)
|
rs377507553
|
0.00046
|
|
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu)
|
rs139557480
|
0.00046
|
|
NM_018026.4(PACS1):c.104A>C (p.Gln35Pro)
|
rs369233658
|
0.00046
|
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
|
NM_032737.4(LMNB2):c.265-19C>T
|
rs199577453
|
0.00046
|
|
NM_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
|
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)
|
rs115640152
|
0.00046
|
|
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=)
|
rs369438374
|
0.00046
|
|
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val)
|
rs151094543
|
0.00046
|
|
NM_000026.4(ADSL):c.702-7T>C
|
rs201509960
|
0.00045
|
|
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr)
|
rs56157628
|
0.00045
|
|
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)
|
rs4987127
|
0.00045
|
|
NM_000095.3(COMP):c.763-8T>C
|
rs374063820
|
0.00045
|
|
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)
|
rs142808131
|
0.00045
|
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
|
NM_000484.4(APP):c.663-9C>A
|
rs199587668
|
0.00045
|
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00045
|
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
|
NM_000545.8(HNF1A):c.*1312C>T
|
rs56335342
|
0.00045
|
|
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058
|
0.00045
|
|
NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=)
|
rs147373250
|
0.00045
|
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
|
NM_001077365.2(POMT1):c.1365+15C>T
|
rs58896330
|
0.00045
|
|
NM_001083116.3(PRF1):c.286C>A (p.Arg96=)
|
rs144024245
|
0.00045
|
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
|
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile)
|
rs143002189
|
0.00045
|
|
NM_001292063.2(OTOG):c.94+75G>T
|
rs550807341
|
0.00045
|
|
NM_001358530.2(MOCS1):c.981+12C>T
|
rs377628500
|
0.00045
|
|
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=)
|
rs201885528
|
0.00045
|
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
|
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)
|
rs149276836
|
0.00045
|
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
|
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)
|
rs200714808
|
0.00045
|
|
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu)
|
rs56400844
|
0.00045
|
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
|
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)
|
rs139395045
|
0.00045
|
|
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)
|
rs200520924
|
0.00045
|
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
|
NM_005257.6(GATA6):c.1605A>G (p.Gln535=)
|
rs117646477
|
0.00045
|
|
NM_005546.4(ITK):c.1741C>T (p.Arg581Trp)
|
rs34482255
|
0.00045
|
|
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln)
|
rs575720246
|
0.00045
|
|
NM_006506.5(RASA2):c.378A>C (p.Glu126Asp)
|
rs144759014
|
0.00045
|
|
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)
|
rs200724087
|
0.00045
|
|
NM_014336.5(AIPL1):c.627G>A (p.Arg209=)
|
rs142319505
|
0.00045
|
|
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=)
|
rs183834387
|
0.00045
|
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
|
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)
|
rs369777874
|
0.00045
|
|
NM_033026.6(PCLO):c.248+8C>A
|
rs377422284
|
0.00045
|
|
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val)
|
rs144226338
|
0.00045
|
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
|
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)
|
rs144825552
|
0.00044
|
|
NM_000213.5(ITGB4):c.5219-3C>T
|
rs200010813
|
0.00044
|
|
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)
|
rs202063628
|
0.00044
|
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
|
NM_001046.3(SLC12A2):c.953-7C>T
|
rs201608609
|
0.00044
|
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
|
NM_001084.5(PLOD3):c.1466C>T (p.Pro489Leu)
|
rs145508748
|
0.00044
|
|
NM_001163435.3(TBCK):c.2468C>T (p.Thr823Ile)
|
rs61733982
|
0.00044
|
|
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile)
|
rs72653792
|
0.00044
|
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
|
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)
|
rs201818223
|
0.00044
|
|
NM_001378183.1(PIEZO2):c.5080G>A (p.Asp1694Asn)
|
rs114649884
|
0.00044
|
|
NM_001395413.1(POR):c.889G>A (p.Glu297Lys)
|
rs11540674
|
0.00044
|
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00044
|
|
NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln)
|
rs142263208
|
0.00044
|
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
|
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=)
|
rs147471420
|
0.00044
|
|
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg)
|
rs202203322
|
0.00044
|
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
|
NM_004817.4(TJP2):c.2880+19C>T
|
rs200384355
|
0.00044
|
|
NM_014208.3(DSPP):c.2455G>A (p.Asp819Asn)
|
rs371825362
|
0.00044
|
|
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg)
|
rs117659667
|
0.00044
|
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
|
NM_021076.4(NEFH):c.1739C>T (p.Ser580Phe)
|
rs115072194
|
0.00044
|
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
|
NM_032382.5(COG8):c.597C>T (p.Asn199=)
|
rs113642086
|
0.00044
|
|
NM_133497.4(KCNV2):c.80G>A (p.Arg27His)
|
rs145731729
|
0.00044
|
|
NC_000005.10:g.156326924T>C
|
rs727503419
|
0.00043
|
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
|
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg)
|
rs139622306
|
0.00043
|
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
|
NM_000246.4(CIITA):c.1518G>A (p.Ala506=)
|
rs201215476
|
0.00043
|
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
|
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
|
NM_000484.4(APP):c.592T>C (p.Ser198Pro)
|
rs145081708
|
0.00043
|
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
|
NM_000538.4(RFXAP):c.666A>G (p.Ala222=)
|
rs139675642
|
0.00043
|
|
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)
|
rs145434723
|
0.00043
|
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
|
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=)
|
rs141153302
|
0.00043
|
|
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys)
|
rs139876825
|
0.00043
|
|
NM_001122659.3(EDNRB):c.-26G>A
|
rs2070591
|
0.00043
|
|
NM_001127255.2(NLRP7):c.1762G>A (p.Val588Met)
|
rs146872991
|
0.00043
|
|
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
|
rs138980048
|
0.00043
|
|
NM_001135146.2(SLC39A8):c.97G>A (p.Val33Met)
|
rs373562040
|
0.00043
|
|
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His)
|
rs200204761
|
0.00043
|
|
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile)
|
rs374351807
|
0.00043
|
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
|
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val)
|
rs148101195
|
0.00043
|
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
|
NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser)
|
rs149204722
|
0.00043
|
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
|
NM_002617.4(PEX10):c.627G>A (p.Glu209=)
|
rs141430704
|
0.00043
|
|
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys)
|
rs145752649
|
0.00043
|
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
|
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)
|
rs146877597
|
0.00043
|
|
NM_005097.4(LGI1):c.717A>C (p.Ile239=)
|
rs146425212
|
0.00043
|
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
|
NM_012213.3(MLYCD):c.1074G>A (p.Ser358=)
|
rs377161125
|
0.00043
|
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
|
NM_014314.4(RIGI):c.2272G>T (p.Glu758Ter)
|
rs553716308
|
0.00043
|
|
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu)
|
rs201398260
|
0.00043
|
|
NM_017617.5(NOTCH1):c.3901+3G>A
|
rs373113999
|
0.00043
|
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
|
NM_017780.4(CHD7):c.360C>T (p.Gly120=)
|
rs375438732
|
0.00043
|
|
NM_018993.4(RIN2):c.604G>A (p.Glu202Lys)
|
rs200682836
|
0.00043
|
|
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
|
rs137872711
|
0.00043
|
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
|
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)
|
rs137853825
|
0.00043
|
|
NM_032382.5(COG8):c.1467C>T (p.Ser489=)
|
rs138741747
|
0.00043
|
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
|
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)
|
rs200176373
|
0.00043
|
|
NM_173076.3(ABCA12):c.6704A>C (p.Glu2235Ala)
|
rs138504099
|
0.00043
|
|
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln)
|
rs199561218
|
0.00043
|
|
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)
|
rs202116866
|
0.00043
|
|
NM_206937.2(LIG4):c.2222G>A (p.Arg741His)
|
rs143767581
|
0.00043
|
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
|
NM_000256.3(MYBPC3):c.926+8C>T
|
rs377595584
|
0.00042
|
|
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)
|
rs148028364
|
0.00042
|
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
|
NM_001035.3(RYR2):c.463+14G>A
|
rs776302587
|
0.00042
|
|
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)
|
rs142482143
|
0.00042
|
|
NM_001114753.3(ENG):c.687C>T (p.Ala229=)
|
rs376919650
|
0.00042
|
|
NM_001193313.2(SUGCT):c.478A>C (p.Ile160Leu)
|
rs138102615
|
0.00042
|
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
|
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu)
|
rs145234666
|
0.00042
|
|
NM_001377299.1(NDUFS2):c.1354+5G>A
|
rs190184430
|
0.00042
|
|
NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr)
|
rs139107757
|
0.00042
|
|
NM_003482.4(KMT2D):c.14643+12G>A
|
rs186670730
|
0.00042
|
|
NM_004006.3(DMD):c.2824A>G (p.Met942Val)
|
rs371648742
|
0.00042
|
|
NM_004064.5(CDKN1B):c.518A>G (p.Asn173Ser)
|
rs141509450
|
0.00042
|
|
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln)
|
rs148661902
|
0.00042
|
|
NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu)
|
rs138266625
|
0.00042
|
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00042
|
|
NM_005732.4(RAD50):c.260G>A (p.Arg87His)
|
rs374561375
|
0.00042
|
|
NM_006265.3(RAD21):c.1617A>G (p.Glu539=)
|
rs138040512
|
0.00042
|
|
NM_016341.4(PLCE1):c.2214+7C>T
|
rs201418194
|
0.00042
|
|
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
|
rs201907325
|
0.00042
|
|
NM_130837.3(OPA1):c.2610C>T (p.Thr870=)
|
rs139934030
|
0.00042
|
|
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)
|
rs201176149
|
0.00042
|
|
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)
|
rs141488398
|
0.00042
|
|
NM_198407.2(GHSR):c.1072G>A (p.Ala358Thr)
|
rs150344113
|
0.00042
|
|
NM_000018.4(ACADVL):c.1077+15C>T
|
rs202237278
|
0.00041
|
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00041
|
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
|
NM_000436.4(OXCT1):c.565-13C>T
|
rs370659097
|
0.00041
|
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
|
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)
|
rs566641514
|
0.00041
|
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
|
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile)
|
rs147652186
|
0.00041
|
|
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=)
|
rs138985089
|
0.00041
|
|
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala)
|
rs550993341
|
0.00041
|
|
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His)
|
rs376744360
|
0.00041
|
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
|
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)
|
rs200899806
|
0.00041
|
|
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)
|
rs373311745
|
0.00041
|
|
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg)
|
rs750481489
|
0.00041
|
|
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)
|
rs189652973
|
0.00041
|
|
NM_001382.4(DPAGT1):c.729-4A>C
|
rs199873583
|
0.00041
|
|
NM_001429.4(EP300):c.739A>G (p.Met247Val)
|
rs147583157
|
0.00041
|
|
NM_002471.4(MYH6):c.210T>C (p.Thr70=)
|
rs147397431
|
0.00041
|
|
NM_002471.4(MYH6):c.643-5C>T
|
rs199859986
|
0.00041
|
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
|
NM_002691.4(POLD1):c.3068-14C>T
|
rs3218758
|
0.00041
|
|
NM_002857.4(PEX19):c.254C>T (p.Ala85Val)
|
rs11550119
|
0.00041
|
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
|
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)
|
rs143642542
|
0.00041
|
|
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=)
|
rs34089426
|
0.00041
|
|
NM_003797.5(EED):c.532A>G (p.Ile178Val)
|
rs147440081
|
0.00041
|
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
|
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)
|
rs114615449
|
0.00041
|
|
NM_004963.4(GUCY2C):c.2067T>G (p.Asn689Lys)
|
rs138497004
|
0.00041
|
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
|
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=)
|
rs143856702
|
0.00041
|
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
|
NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr)
|
rs143635399
|
0.00041
|
|
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His)
|
rs150737112
|
0.00041
|
|
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter)
|
rs769917929
|
0.00041
|
|
NM_020297.4(ABCC9):c.2862C>T (p.Asp954=)
|
rs2291550
|
0.00041
|
|
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)
|
rs370155559
|
0.00041
|
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
|
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)
|
rs559384926
|
0.00041
|
|
NM_024105.4(ALG12):c.1362C>T (p.Val454=)
|
rs12163163
|
0.00041
|
|
NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
|
rs139161525
|
0.00041
|
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00041
|
|
NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser)
|
rs201072069
|
0.00041
|
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
|
NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp)
|
rs191608083
|
0.00041
|
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
|
NM_178452.6(DNAAF1):c.1698+1G>A
|
rs139519641
|
0.00041
|
|
NM_198578.4(LRRK2):c.825T>C (p.His275=)
|
rs72546315
|
0.00041
|
|
NM_000059.4(BRCA2):c.6842-20T>A
|
rs81002811
|
0.00040
|
|
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)
|
rs55637244
|
0.00040
|
|
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)
|
rs372121353
|
0.00040
|
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
|
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331
|
0.00040
|
|
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)
|
rs3092902
|
0.00040
|
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
|
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser)
|
rs144185168
|
0.00040
|
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
|
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)
|
rs544247912
|
0.00040
|
|
NM_003051.4(SLC16A1):c.1414G>A (p.Gly472Arg)
|
rs72552271
|
0.00040
|
|
NM_003482.4(KMT2D):c.6235-6C>G
|
rs373858319
|
0.00040
|
|
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)
|
rs141862495
|
0.00040
|
|
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)
|
rs200716582
|
0.00040
|
|
NM_004463.3(FGD1):c.281A>G (p.His94Arg)
|
rs189159946
|
0.00040
|
|
NM_005445.4(SMC3):c.2535+15T>G
|
rs3818903
|
0.00040
|
|
NM_006086.4(TUBB3):c.357G>A (p.Val119=)
|
rs34174718
|
0.00040
|
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
|
NM_007078.3(LDB3):c.-15G>A
|
rs201865389
|
0.00040
|
|
NM_007317.3(KIF22):c.1619A>T (p.Gln540Leu)
|
rs148628152
|
0.00040
|
|
NM_015295.3(SMCHD1):c.1957-3C>T
|
rs201069969
|
0.00040
|
|
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=)
|
rs372945746
|
0.00040
|
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
|
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met)
|
rs781777662
|
0.00040
|
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
|
NM_053025.4(MYLK):c.3653-10_3653-8del
|
rs576620371
|
0.00040
|
|
NM_138694.4(PKHD1):c.7911+19T>C
|
rs201017366
|
0.00040
|
|
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
|
rs201922441
|
0.00040
|
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00040
|
|
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser)
|
rs145588516
|
0.00040
|
|
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)
|
rs117221419
|
0.00040
|
|
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)
|
rs35821434
|
0.00040
|
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
|
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)
|
rs146309264
|
0.00039
|
|
NM_000142.5(FGFR3):c.252G>A (p.Ser84=)
|
rs367973461
|
0.00039
|
|
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)
|
rs140048578
|
0.00039
|
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
|
NM_000410.4(HFE):c.21G>A (p.Pro7=)
|
rs114758821
|
0.00039
|
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])
|
rs398123469
|
0.00039
|
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
|
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)
|
rs141721605
|
0.00039
|
|
NM_001083116.3(PRF1):c.807C>T (p.His269=)
|
rs147453010
|
0.00039
|
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
|
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)
|
rs199694315
|
0.00039
|
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
|
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln)
|
rs187703540
|
0.00039
|
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00039
|
|
NM_001277115.2(DNAH11):c.5138C>T (p.Thr1713Met)
|
rs202034810
|
0.00039
|
|
NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser)
|
rs201704416
|
0.00039
|
|
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)
|
rs181785201
|
0.00039
|
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
|
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)
|
rs146750552
|
0.00039
|
|
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)
|
rs142036266
|
0.00039
|
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
|
NM_001620.3(AHNAK):c.7562C>G (p.Pro2521Arg)
|
rs143391519
|
0.00039
|
|
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)
|
rs151249006
|
0.00039
|
|
NM_002296.4(LBR):c.367-5T>C
|
rs201626710
|
0.00039
|
|
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu)
|
rs201475647
|
0.00039
|
|
NM_002381.5(MATN3):c.330C>T (p.Ile110=)
|
rs201755444
|
0.00039
|
|
NM_002474.3(MYH11):c.5296-10T>C
|
rs111858392
|
0.00039
|
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
|
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
|
rs199608903
|
0.00039
|
|
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)
|
rs140291959
|
0.00039
|
|
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met)
|
rs201634881
|
0.00039
|
|
NM_003244.4(TGIF1):c.723G>A (p.Pro241=)
|
rs114912664
|
0.00039
|
|
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)
|
rs146876119
|
0.00039
|
|
NM_006348.5(COG5):c.2271C>T (p.Pro757=)
|
rs145648013
|
0.00039
|
|
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=)
|
rs144851263
|
0.00039
|
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
|
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly)
|
rs145292760
|
0.00039
|
|
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser)
|
rs201638257
|
0.00039
|
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
|
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)
|
rs144703991
|
0.00039
|
|
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)
|
rs36049457
|
0.00039
|
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
|
NM_032119.4(ADGRV1):c.18040T>C (p.Phe6014Leu)
|
rs201420881
|
0.00039
|
|
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=)
|
rs782454483
|
0.00039
|
|
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met)
|
rs374606481
|
0.00039
|
|
NM_144991.3(TSPEAR):c.355C>T (p.Leu119Phe)
|
rs143941725
|
0.00039
|
|
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met)
|
rs117535913
|
0.00039
|
|
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)
|
rs148114532
|
0.00039
|
|
NM_178554.6(KY):c.988C>T (p.Pro330Ser)
|
rs201201519
|
0.00039
|
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00039
|
|
NM_000030.3(AGXT):c.165+40A>C
|
rs57017537
|
0.00038
|
|
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)
|
rs142010751
|
0.00038
|
|
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)
|
rs138933660
|
0.00038
|
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
|
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser)
|
rs200863613
|
0.00038
|
|
NM_000081.4(LYST):c.1655T>C (p.Val552Ala)
|
rs199617821
|
0.00038
|
|
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr)
|
rs72969704
|
0.00038
|
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
|
NM_000294.3(PHKG2):c.585G>A (p.Ala195=)
|
rs187710792
|
0.00038
|
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
|
NM_000352.6(ABCC8):c.486C>T (p.Ile162=)
|
rs149872185
|
0.00038
|
|
NM_000393.5(COL5A2):c.*904A>C
|
rs778818824
|
0.00038
|
|
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=)
|
rs375882355
|
0.00038
|
|
NM_000436.4(OXCT1):c.477A>G (p.Thr159=)
|
rs141567487
|
0.00038
|
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
|
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)
|
rs121912553
|
0.00038
|
|
NM_001035.3(RYR2):c.11246-11del
|
rs397516503
|
0.00038
|
|
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)
|
rs149871856
|
0.00038
|
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
|
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val)
|
rs531972155
|
0.00038
|
|
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)
|
rs201419564
|
0.00038
|
|
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638
|
0.00038
|
|
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val)
|
rs141705330
|
0.00038
|
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
|
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)
|
rs200257398
|
0.00038
|
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
|
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp)
|
rs9282830
|
0.00038
|
|
NM_002878.4(RAD51D):c.904-11T>A
|
rs374449943
|
0.00038
|
|
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe)
|
rs116959874
|
0.00038
|
|
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp)
|
rs114613744
|
0.00038
|
|
NM_004006.3(DMD):c.5181A>T (p.Ile1727=)
|
rs200887855
|
0.00038
|
|
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys)
|
rs150466838
|
0.00038
|
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00038
|
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
|
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)
|
rs147315869
|
0.00038
|
|
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser)
|
rs200409290
|
0.00038
|
|
NM_005141.5(FGB):c.534G>C (p.Lys178Asn)
|
rs201909029
|
0.00038
|
|
NM_005476.7(GNE):c.2004C>T (p.Ser668=)
|
rs150045137
|
0.00038
|
|
NM_005573.3(LMNB1):c.-583G>C
|
rs763586250
|
0.00038
|
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
|
NM_006231.4(POLE):c.2026+9C>T
|
rs373790607
|
0.00038
|
|
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)
|
rs139531639
|
0.00038
|
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
|
NM_016239.4(MYO15A):c.1562C>T (p.Pro521Leu)
|
rs867630446
|
0.00038
|
|
NM_017763.6(RNF43):c.2054C>A (p.Thr685Asn)
|
rs34464652
|
0.00038
|
|
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)
|
rs149711133
|
0.00038
|
|
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)
|
rs141016088
|
0.00038
|
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463
|
0.00038
|
|
NM_033380.3(COL4A5):c.2768-10T>C
|
rs370284884
|
0.00038
|
|
NM_182894.3(VSX2):c.171C>G (p.Ala57=)
|
rs201395979
|
0.00038
|
|
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val)
|
rs199743242
|
0.00038
|
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
|
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg)
|
rs199771303
|
0.00037
|
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
|
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
|
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=)
|
rs150351766
|
0.00037
|
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
|
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu)
|
rs202156474
|
0.00037
|
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
|
NM_001083962.2(TCF4):c.504A>G (p.Val168=)
|
rs370160994
|
0.00037
|
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
|
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)
|
rs189609282
|
0.00037
|
|
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)
|
rs72657689
|
0.00037
|
|
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)
|
rs199761901
|
0.00037
|
|
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met)
|
rs199719583
|
0.00037
|
|
NM_002458.3(MUC5B):c.10853G>A (p.Arg3618His)
|
rs201155330
|
0.00037
|
|
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)
|
rs150306543
|
0.00037
|
|
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)
|
rs144415484
|
0.00037
|
|
NM_004933.3(CDH15):c.2146A>G (p.Asn716Asp)
|
rs147397532
|
0.00037
|
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
|
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=)
|
rs143899594
|
0.00037
|
|
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)
|
rs375251871
|
0.00037
|
|
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys)
|
rs118010078
|
0.00037
|
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
|
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His)
|
rs201123438
|
0.00037
|
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
|
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=)
|
rs148654588
|
0.00037
|
|
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)
|
rs200319405
|
0.00037
|
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
|
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)
|
rs137958217
|
0.00036
|
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
|
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly)
|
rs199476092
|
0.00036
|
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
|
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr)
|
rs121918027
|
0.00036
|
|
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp)
|
rs115872852
|
0.00036
|
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00036
|
|
NM_001083962.2(TCF4):c.790-9T>C
|
rs373434281
|
0.00036
|
|
NM_001126049.2(KLLN):c.-840G>A
|
rs563841270
|
0.00036
|
|
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile)
|
rs565096713
|
0.00036
|
|
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His)
|
rs147153006
|
0.00036
|
|
NM_001145809.2(MYH14):c.1115-4C>T
|
rs142696359
|
0.00036
|
|
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)
|
rs200310048
|
0.00036
|
|
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)
|
rs201604061
|
0.00036
|
|
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)
|
rs190421400
|
0.00036
|
|
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
|
rs150269814
|
0.00036
|
|
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn)
|
rs373777402
|
0.00036
|
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
|
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)
|
rs191239995
|
0.00036
|
|
NM_001739.2(CA5A):c.172G>A (p.Val58Met)
|
rs200539625
|
0.00036
|
|
NM_002242.4(KCNJ13):c.827A>C (p.Glu276Ala)
|
rs374411396
|
0.00036
|
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
|
NM_002474.3(MYH11):c.471C>T (p.Ile157=)
|
rs140267000
|
0.00036
|
|
NM_003282.4(TNNI2):c.54G>C (p.Leu18=)
|
rs181679318
|
0.00036
|
|
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=)
|
rs374418866
|
0.00036
|
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
|
NM_004431.5(EPHA2):c.2875G>A (p.Ala959Thr)
|
rs139787163
|
0.00036
|
|
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg)
|
rs146674844
|
0.00036
|
|
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=)
|
rs143350315
|
0.00036
|
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00036
|
|
NM_005477.3(HCN4):c.2181C>T (p.His727=)
|
rs140354126
|
0.00036
|
|
NM_006516.4(SLC2A1):c.498C>T (p.Val166=)
|
rs150971143
|
0.00036
|
|
NM_006946.4(SPTBN2):c.1719C>T (p.His573=)
|
rs148207416
|
0.00036
|
|
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=)
|
rs144556973
|
0.00036
|
|
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=)
|
rs199835341
|
0.00036
|
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
|
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)
|
rs201161419
|
0.00036
|
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
|
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=)
|
rs377369857
|
0.00036
|
|
NM_030973.4(MED25):c.135-6T>G
|
rs199743509
|
0.00036
|
|
NM_052859.4(RFT1):c.436C>T (p.His146Tyr)
|
rs201794647
|
0.00036
|
|
NM_133379.5(TTN):c.10646G>A (p.Arg3549His)
|
rs148115514
|
0.00036
|
|
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu)
|
rs140277551
|
0.00036
|
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00036
|
|
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)
|
rs149436747
|
0.00035
|
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
|
NM_000071.3(CBS):c.1223+13G>A
|
rs533660793
|
0.00035
|
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
|
NM_000222.3(KIT):c.821C>T (p.Thr274Met)
|
rs138585275
|
0.00035
|
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
|
NM_000246.4(CIITA):c.456G>A (p.Pro152=)
|
rs151317882
|
0.00035
|
|
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)
|
rs200352299
|
0.00035
|
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
|
NM_000325.6(PITX2):c.862C>T (p.Leu288=)
|
rs139401187
|
0.00035
|
|
NM_000369.5(TSHR):c.2161G>T (p.Val721Phe)
|
rs61745409
|
0.00035
|
|
NM_000444.6(PHEX):c.2214G>A (p.Thr738=)
|
rs140742016
|
0.00035
|
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00035
|
|
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=)
|
rs757294519
|
0.00035
|
|
NM_001164508.2(NEB):c.20466+7G>A
|
rs201684605
|
0.00035
|
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00035
|
|
NM_001199107.2(TBC1D24):c.1143-15G>A
|
rs371213803
|
0.00035
|
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
|
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=)
|
rs374452942
|
0.00035
|
|
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)
|
rs371988852
|
0.00035
|
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
|
NM_002381.5(MATN3):c.792G>A (p.Ala264=)
|
rs201563567
|
0.00035
|
|
NM_003282.4(TNNI2):c.216C>T (p.Ile72=)
|
rs777907501
|
0.00035
|
|
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)
|
rs146817002
|
0.00035
|
|
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)
|
rs80028865
|
0.00035
|
|
NM_005333.5(HCCS):c.521C>T (p.Ala174Val)
|
rs367601527
|
0.00035
|
|
NM_005422.4(TECTA):c.714C>T (p.Asn238=)
|
rs148478527
|
0.00035
|
|
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)
|
rs150098198
|
0.00035
|
|
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)
|
rs139965373
|
0.00035
|
|
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)
|
rs142542453
|
0.00035
|
|
NM_006348.5(COG5):c.15C>G (p.Gly5=)
|
rs202123650
|
0.00035
|
|
NM_006393.3(NEBL):c.2148+4T>C
|
rs193163659
|
0.00035
|
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
|
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)
|
rs575642464
|
0.00035
|
|
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=)
|
rs141439475
|
0.00035
|
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
|
NM_014915.3(ANKRD26):c.2855A>C (p.Lys952Thr)
|
rs564448342
|
0.00035
|
|
NM_015629.4(PRPF31):c.540G>A (p.Ser180=)
|
rs148941732
|
0.00035
|
|
NM_015846.4(MBD1):c.1304C>T (p.Thr435Ile)
|
rs116201949
|
0.00035
|
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
|
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)
|
rs377217445
|
0.00035
|
|
NM_022124.6(CDH23):c.6809G>A (p.Arg2270His)
|
rs139409005
|
0.00035
|
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
|
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn)
|
rs201327014
|
0.00035
|
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
|
NM_144631.6(ZNF513):c.519C>T (p.Ser173=)
|
rs199520071
|
0.00035
|
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
0.00034
|
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
|
NM_000255.4(MMUT):c.2196C>T (p.Ala732=)
|
rs201963242
|
0.00034
|
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
|
NM_000260.4(MYO7A):c.5169-5G>A
|
rs727505232
|
0.00034
|
|
NM_000441.2(SLC26A4):c.1614+7A>G
|
rs199643344
|
0.00034
|
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
|
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)
|
rs138555898
|
0.00034
|
|
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr)
|
rs786203769
|
0.00034
|
|
NM_000548.5(TSC2):c.681C>T (p.Cys227=)
|
rs45443205
|
0.00034
|
|
NM_000639.3(FASLG):c.364C>A (p.His122Asn)
|
rs140406512
|
0.00034
|
|
NM_001042545.2(LTBP4):c.3338G>A (p.Arg1113His)
|
rs199887429
|
0.00034
|
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
|
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)
|
rs141030526
|
0.00034
|
|
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)
|
rs150932144
|
0.00034
|
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
|
NM_001145809.2(MYH14):c.2233-13C>A
|
rs368249273
|
0.00034
|
|
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His)
|
rs147159176
|
0.00034
|
|
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)
|
rs185496567
|
0.00034
|
|
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)
|
rs201981364
|
0.00034
|
|
NM_001256071.3(RNF213):c.10997T>C (p.Met3666Thr)
|
rs375097553
|
0.00034
|
|
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)
|
rs116122164
|
0.00034
|
|
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)
|
rs369933152
|
0.00034
|
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
0.00034
|
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
|
NM_001267550.2(TTN):c.53287+6G>A
|
rs149890360
|
0.00034
|
|
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)
|
rs199512049
|
0.00034
|
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
|
NM_001355436.2(SPTB):c.96T>C (p.Asn32=)
|
rs141340359
|
0.00034
|
|
NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val)
|
rs138028425
|
0.00034
|
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
|
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
|
rs145475623
|
0.00034
|
|
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=)
|
rs115675008
|
0.00034
|
|
NM_001999.4(FBN2):c.4472-11A>T
|
rs528062851
|
0.00034
|
|
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=)
|
rs144530798
|
0.00034
|
|
NM_002474.3(MYH11):c.5786+11C>T
|
rs374454501
|
0.00034
|
|
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr)
|
rs144813238
|
0.00034
|
|
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)
|
rs778087162
|
0.00034
|
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
|
NM_003722.5(TP63):c.678C>T (p.Arg226=)
|
rs61732782
|
0.00034
|
|
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)
|
rs145243354
|
0.00034
|
|
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)
|
rs138145424
|
0.00034
|
|
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met)
|
rs116238578
|
0.00034
|
|
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)
|
rs184585202
|
0.00034
|
|
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln)
|
rs201328910
|
0.00034
|
|
NM_005045.4(RELN):c.1483A>G (p.Ile495Val)
|
rs150850005
|
0.00034
|
|
NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp)
|
rs149564430
|
0.00034
|
|
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr)
|
rs146711942
|
0.00034
|
|
NM_006420.3(ARFGEF2):c.2815-7G>A
|
rs187176143
|
0.00034
|
|
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=)
|
rs144092577
|
0.00034
|
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
|
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr)
|
rs115788094
|
0.00034
|
|
NM_014727.3(KMT2B):c.5723C>G (p.Ala1908Gly)
|
rs373355746
|
0.00034
|
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
|
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)
|
rs200662973
|
0.00034
|
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
|
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)
|
rs201756175
|
0.00034
|
|
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser)
|
rs184814386
|
0.00034
|
|
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)
|
rs144949902
|
0.00034
|
|
NM_030632.3(ASXL3):c.1925C>T (p.Pro642Leu)
|
rs189786599
|
0.00034
|
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
|
NM_032119.4(ADGRV1):c.6326T>C (p.Ile2109Thr)
|
rs369891542
|
0.00034
|
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
|
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)
|
rs104886164
|
0.00034
|
|
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)
|
rs139585796
|
0.00034
|
|
NM_194248.3(OTOF):c.2507G>A (p.Arg836His)
|
rs200670445
|
0.00034
|
|
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=)
|
rs143184345
|
0.00034
|
|
NM_201384.3(PLEC):c.6162C>T (p.His2054=)
|
rs563719398
|
0.00034
|
|
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)
|
rs151201945
|
0.00033
|
|
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala)
|
rs185516533
|
0.00033
|
|
NM_000246.4(CIITA):c.1926C>T (p.Val642=)
|
rs138376967
|
0.00033
|
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
|
NM_000384.3(APOB):c.9322G>A (p.Glu3108Lys)
|
rs140240214
|
0.00033
|
|
NM_000639.3(FASLG):c.280T>G (p.Leu94Val)
|
rs56302117
|
0.00033
|
|
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr)
|
rs374425919
|
0.00033
|
|
NM_000817.3(GAD1):c.1184+17G>A
|
rs180969459
|
0.00033
|
|
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His)
|
rs200088838
|
0.00033
|
|
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)
|
rs34830702
|
0.00033
|
|
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)
|
rs182074603
|
0.00033
|
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00033
|
|
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile)
|
rs368637389
|
0.00033
|
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
|
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)
|
rs148640214
|
0.00033
|
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
|
NM_006086.4(TUBB3):c.507C>T (p.Val169=)
|
rs373718068
|
0.00033
|
|
NM_006739.4(MCM5):c.2132T>C (p.Val711Ala)
|
rs149737572
|
0.00033
|
|
NM_006941.4(SOX10):c.753G>A (p.Ser251=)
|
rs376907937
|
0.00033
|
|
NM_014000.3(VCL):c.492T>G (p.Leu164=)
|
rs143702799
|
0.00033
|
|
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr)
|
rs201033114
|
0.00033
|
|
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr)
|
rs776370351
|
0.00033
|
|
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)
|
rs143444046
|
0.00033
|
|
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys)
|
rs201534539
|
0.00033
|
|
NM_030777.4(SLC2A10):c.1289-6C>T
|
rs199967429
|
0.00033
|
|
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)
|
rs201959100
|
0.00033
|
|
NM_174936.4(PCSK9):c.1864-13C>T
|
rs147470944
|
0.00033
|
|
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=)
|
rs138178437
|
0.00033
|
|
NM_000037.4(ANK1):c.1203C>T (p.Thr401=)
|
rs145628190
|
0.00032
|
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
|
NM_000085.5(CLCNKB):c.1669A>C (p.Thr557Pro)
|
rs145798229
|
0.00032
|
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
|
NM_000283.4(PDE6B):c.1401+5G>A
|
rs201623488
|
0.00032
|
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
|
NM_000294.3(PHKG2):c.21G>A (p.Pro7=)
|
rs200427925
|
0.00032
|
|
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)
|
rs137854861
|
0.00032
|
|
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn)
|
rs45476795
|
0.00032
|
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
|
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
|
rs184769423
|
0.00032
|
|
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser)
|
rs189541265
|
0.00032
|
|
NM_001171.6(ABCC6):c.1639G>A (p.Ala547Thr)
|
rs56877937
|
0.00032
|
|
NM_001191061.2(SLC25A22):c.413-8G>C
|
rs376015598
|
0.00032
|
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
|
NM_001267550.2(TTN):c.8902+16T>A
|
rs66507451
|
0.00032
|
|
NM_001277115.2(DNAH11):c.5434G>A (p.Val1812Met)
|
rs376798792
|
0.00032
|
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
|
NM_001386125.1(OBSCN):c.19850C>T (p.Ala6617Val)
|
rs191098985
|
0.00032
|
|
NM_002693.3(POLG):c.2071-14T>G
|
rs150088708
|
0.00032
|
|
NM_002693.3(POLG):c.3652C>T (p.Leu1218=)
|
rs146301349
|
0.00032
|
|
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)
|
rs202243588
|
0.00032
|
|
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)
|
rs372075053
|
0.00032
|
|
NM_003242.6(TGFBR2):c.1525-7G>A
|
rs377499122
|
0.00032
|
|
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=)
|
rs183390670
|
0.00032
|
|
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
|
rs116283249
|
0.00032
|
|
NM_004320.6(ATP2A1):c.1185-11C>T
|
rs780795453
|
0.00032
|
|
NM_004595.5(SMS):c.978G>A (p.Ser326=)
|
rs150564614
|
0.00032
|
|
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)
|
rs144343770
|
0.00032
|
|
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys)
|
rs142016804
|
0.00032
|
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
|
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)
|
rs138749920
|
0.00032
|
|
NM_006031.6(PCNT):c.506G>A (p.Arg169His)
|
rs61735823
|
0.00032
|
|
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu)
|
rs147670568
|
0.00032
|
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00032
|
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
|
NM_014714.4(IFT140):c.1360-14G>A
|
rs369246649
|
0.00032
|
|
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met)
|
rs148056371
|
0.00032
|
|
NM_021072.4(HCN1):c.240C>A (p.Gly80=)
|
rs373664268
|
0.00032
|
|
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=)
|
rs370039255
|
0.00032
|
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
|
NM_025137.4(SPG11):c.257+13G>A
|
rs201936649
|
0.00032
|
|
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu)
|
rs202158738
|
0.00032
|
|
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His)
|
rs201345883
|
0.00032
|
|
NM_153033.5(KCTD7):c.387C>T (p.Ala129=)
|
rs140932942
|
0.00032
|
|
NM_153603.4(COG7):c.170-4A>G
|
rs544015151
|
0.00032
|
|
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val)
|
rs189676187
|
0.00032
|
|
NM_198525.3(KIF7):c.516G>A (p.Glu172=)
|
rs199959946
|
0.00032
|
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00031
|
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
|
NM_000081.4(LYST):c.6782G>A (p.Arg2261His)
|
rs147791378
|
0.00031
|
|
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)
|
rs200603300
|
0.00031
|
|
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)
|
rs148136213
|
0.00031
|
|
NM_000186.4(CFH):c.2957-7A>G
|
rs190778135
|
0.00031
|
|
NM_000222.3(KIT):c.67+12C>T
|
rs374618962
|
0.00031
|
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
|
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser)
|
rs192863857
|
0.00031
|
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
|
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=)
|
rs77053118
|
0.00031
|
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
|
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=)
|
rs373050209
|
0.00031
|
|
NM_001040716.2(PC):c.3198C>T (p.Ser1066=)
|
rs144087445
|
0.00031
|
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
|
NM_001110219.3(GJB6):c.177A>G (p.Gly59=)
|
rs371123633
|
0.00031
|
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
|
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)
|
rs34061568
|
0.00031
|
|
NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys)
|
rs182793773
|
0.00031
|
|
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln)
|
rs148099152
|
0.00031
|
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00031
|
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
|
NM_001278116.2(L1CAM):c.630C>T (p.His210=)
|
rs28933683
|
0.00031
|
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
|
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr)
|
rs566858747
|
0.00031
|
|
NM_001368894.2(PAX6):c.*841C>T
|
rs530931929
|
0.00031
|
|
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=)
|
rs563382903
|
0.00031
|
|
NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser)
|
rs200882049
|
0.00031
|
|
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)
|
rs138583508
|
0.00031
|
|
NM_001903.5(CTNNA1):c.1310C>T (p.Ala437Val)
|
rs138782455
|
0.00031
|
|
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu)
|
rs35035518
|
0.00031
|
|
NM_003722.5(TP63):c.1827A>G (p.Glu609=)
|
rs147538847
|
0.00031
|
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
|
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala)
|
rs57728054
|
0.00031
|
|
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)
|
rs201806038
|
0.00031
|
|
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)
|
rs147026512
|
0.00031
|
|
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His)
|
rs147890616
|
0.00031
|
|
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe)
|
rs187652566
|
0.00031
|
|
NM_005886.3(KATNB1):c.1568C>T (p.Thr523Met)
|
rs142649985
|
0.00031
|
|
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
|
rs121913563
|
0.00031
|
|
NM_006412.4(AGPAT2):c.732C>T (p.Leu244=)
|
rs200288462
|
0.00031
|
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
|
NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp)
|
rs143991928
|
0.00031
|
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
|
NM_015178.3(RHOBTB2):c.1102G>A (p.Asp368Asn)
|
rs150618811
|
0.00031
|
|
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe)
|
rs150765660
|
0.00031
|
|
NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu)
|
rs373717198
|
0.00031
|
|
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile)
|
rs147587391
|
0.00031
|
|
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
|
rs139007744
|
0.00031
|
|
NM_018341.3(ERMARD):c.661T>A (p.Tyr221Asn)
|
rs146747272
|
0.00031
|
|
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=)
|
rs138280089
|
0.00031
|
|
NM_020822.3(KCNT1):c.1338-3C>T
|
rs369562243
|
0.00031
|
|
NM_021957.4(GYS2):c.1251C>T (p.Asn417=)
|
rs139882761
|
0.00031
|
|
NM_022915.5(MRPL44):c.648+4C>T
|
rs369491695
|
0.00031
|
|
NM_024740.2(ALG9):c.1659C>T (p.Pro553=)
|
rs2276263
|
0.00031
|
|
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile)
|
rs61745496
|
0.00031
|
|
NM_078470.6(COX15):c.929C>G (p.Pro310Arg)
|
rs138293000
|
0.00031
|
|
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys)
|
rs201025468
|
0.00031
|
|
NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys)
|
rs143646847
|
0.00031
|
|
NM_182920.2(ADAMTS9):c.5191T>C (p.Tyr1731His)
|
rs140793506
|
0.00031
|
|
NM_194248.3(OTOF):c.4023+1G>A
|
rs186810296
|
0.00031
|
|
NM_198173.3(GRHL3):c.205-3C>A
|
rs200425622
|
0.00031
|
|
NM_198525.3(KIF7):c.3665-5G>A
|
rs79532879
|
0.00031
|
|
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val)
|
rs143995220
|
0.00030
|
|
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser)
|
rs200707549
|
0.00030
|
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
|
NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr)
|
rs148815652
|
0.00030
|
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
|
NM_000280.4(PAX6):c.*4627A>C
|
rs140971065
|
0.00030
|
|
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile)
|
rs138558359
|
0.00030
|
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
|
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)
|
rs73790880
|
0.00030
|
|
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr)
|
rs199960807
|
0.00030
|
|
NM_001042492.3(NF1):c.6922-16A>G
|
rs202158964
|
0.00030
|
|
NM_001128205.2(SULF1):c.2440G>A (p.Val814Met)
|
rs117639561
|
0.00030
|
|
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=)
|
rs145143725
|
0.00030
|
|
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)
|
rs201746476
|
0.00030
|
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
|
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp)
|
rs139221232
|
0.00030
|
|
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)
|
rs139180192
|
0.00030
|
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
|
NM_001853.4(COL9A3):c.1135G>A (p.Gly379Ser)
|
rs201250184
|
0.00030
|
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
|
NM_003392.7(WNT5A):c.417C>T (p.Tyr139=)
|
rs371576999
|
0.00030
|
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
|
NM_004826.4(ECEL1):c.1499G>A (p.Arg500Gln)
|
rs151119841
|
0.00030
|
|
NM_005994.4(TBX2):c.1606G>C (p.Gly536Arg)
|
rs760926920
|
0.00030
|
|
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)
|
rs113718290
|
0.00030
|
|
NM_007118.4(TRIO):c.5671T>C (p.Ser1891Pro)
|
rs138840811
|
0.00030
|
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
|
NM_014467.3(SRPX2):c.809C>T (p.Pro270Leu)
|
rs148735447
|
0.00030
|
|
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)
|
rs368571200
|
0.00030
|
|
NM_017617.5(NOTCH1):c.1100-8C>T
|
rs545088400
|
0.00030
|
|
NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr)
|
rs199564182
|
0.00030
|
|
NM_024824.5(ZC3H14):c.1432G>A (p.Val478Ile)
|
rs143129413
|
0.00030
|
|
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys)
|
rs143160805
|
0.00030
|
|
NM_170682.4(P2RX2):c.1151C>T (p.Pro384Leu)
|
rs148054613
|
0.00030
|
|
NM_173483.4(CYP4F22):c.160C>T (p.Arg54Cys)
|
rs146026019
|
0.00030
|
|
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
|
rs142206385
|
0.00030
|
|
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=)
|
rs144730861
|
0.00030
|
|
NM_201384.3(PLEC):c.174+10G>A
|
rs181850748
|
0.00030
|
|
NM_207581.4(DUOXA2):c.463C>G (p.Leu155Val)
|
rs201808443
|
0.00030
|
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
|
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys)
|
rs80359251
|
0.00029
|
|
NM_000061.3(BTK):c.1909-9T>C
|
rs782702231
|
0.00029
|
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
|
NM_000071.3(CBS):c.600G>A (p.Pro200=)
|
rs181472622
|
0.00029
|
|
NM_000077.5(CDKN2A):c.-14C>T
|
rs764244718
|
0.00029
|
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
|
NM_000161.3(GCH1):c.507G>A (p.Ala169=)
|
rs150158277
|
0.00029
|
|
NM_000215.4(JAK3):c.696C>T (p.His232=)
|
rs199902822
|
0.00029
|
|
NM_000268.4(NF2):c.1340+8G>T
|
rs370604189
|
0.00029
|
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
|
NM_000337.6(SGCD):c.510G>A (p.Glu170=)
|
rs368838376
|
0.00029
|
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
|
NM_000515.5(GH1):c.597C>G (p.Val199=)
|
rs142704768
|
0.00029
|
|
NM_000523.4(HOXD13):c.135C>T (p.Ser45=)
|
rs757175860
|
0.00029
|
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
|
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=)
|
rs149471411
|
0.00029
|
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00029
|
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
|
NM_000719.7(CACNA1C):c.2460+6G>A
|
rs369246066
|
0.00029
|
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
|
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)
|
rs146651027
|
0.00029
|
|
NM_000787.4(DBH):c.1643A>G (p.Asn548Ser)
|
rs151228388
|
0.00029
|
|
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)
|
rs147956755
|
0.00029
|
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
|
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile)
|
rs149484264
|
0.00029
|
|
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln)
|
rs151138158
|
0.00029
|
|
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)
|
rs61745604
|
0.00029
|
|
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)
|
rs145087575
|
0.00029
|
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
|
NM_001126108.2(SLC12A3):c.1825+5G>A
|
rs368509876
|
0.00029
|
|
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp)
|
rs200031013
|
0.00029
|
|
NM_001142864.4(PIEZO1):c.5768C>T (p.Ala1923Val)
|
rs771257968
|
0.00029
|
|
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=)
|
rs146235874
|
0.00029
|
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00029
|
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
|
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr)
|
rs531590921
|
0.00029
|
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
|
NM_001267550.2(TTN):c.88306+8T>C
|
rs369690199
|
0.00029
|
|
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser)
|
rs143043614
|
0.00029
|
|
NM_001276345.2(TNNT2):c.41+16A>G
|
rs370729174
|
0.00029
|
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
|
NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val)
|
rs137855415
|
0.00029
|
|
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)
|
rs767013819
|
0.00029
|
|
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala)
|
rs149187750
|
0.00029
|
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
|
NM_001378964.1(CDON):c.77-11T>C
|
rs200967203
|
0.00029
|
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
|
NM_001395413.1(POR):c.1512C>T (p.Gly504=)
|
rs370823127
|
0.00029
|
|
NM_001854.4(COL11A1):c.1489-5C>A
|
rs370997745
|
0.00029
|
|
NM_001875.5(CPS1):c.1116C>T (p.Phe372=)
|
rs200465544
|
0.00029
|
|
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val)
|
rs142647085
|
0.00029
|
|
NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys)
|
rs2302172
|
0.00029
|
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
|
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser)
|
rs184022679
|
0.00029
|
|
NM_003465.3(CHIT1):c.1156+4A>G
|
rs2297947
|
0.00029
|
|
NM_003482.4(KMT2D):c.840-6C>T
|
rs182926808
|
0.00029
|
|
NM_003721.4(RFXANK):c.188-11C>T
|
rs201545133
|
0.00029
|
|
NM_004287.5(GOSR2):c.29+8C>T
|
rs573306680
|
0.00029
|
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
|
NM_004750.5(CRLF1):c.661C>T (p.Arg221Cys)
|
rs199625640
|
0.00029
|
|
NM_005045.4(RELN):c.5796C>T (p.Asn1932=)
|
rs200299096
|
0.00029
|
|
NM_005157.6(ABL1):c.589G>A (p.Glu197Lys)
|
rs150134901
|
0.00029
|
|
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp)
|
rs147675550
|
0.00029
|
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
|
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)
|
rs145825654
|
0.00029
|
|
NM_014208.3(DSPP):c.368G>C (p.Gly123Ala)
|
rs199683760
|
0.00029
|
|
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=)
|
rs149009269
|
0.00029
|
|
NM_016729.3(FOLR1):c.157T>C (p.Leu53=)
|
rs143413500
|
0.00029
|
|
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)
|
rs41265246
|
0.00029
|
|
NM_020975.6(RET):c.341G>A (p.Arg114His)
|
rs76397662
|
0.00029
|
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
|
NM_022464.5(SIL1):c.984C>T (p.Leu328=)
|
rs368666457
|
0.00029
|
|
NM_024757.5(EHMT1):c.576G>A (p.Pro192=)
|
rs574514175
|
0.00029
|
|
NM_032581.4(HYCC1):c.972T>G (p.Gly324=)
|
rs200916070
|
0.00029
|
|
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn)
|
rs114157340
|
0.00029
|
|
NM_130837.3(OPA1):c.921C>T (p.Asp307=)
|
rs147242797
|
0.00029
|
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00029
|
|
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)
|
rs773242093
|
0.00029
|
|
NM_174936.4(PCSK9):c.399+4A>G
|
rs376653409
|
0.00029
|
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00029
|
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
|
NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser)
|
rs139823161
|
0.00029
|
|
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)
|
rs370168097
|
0.00029
|
|
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr)
|
rs561197163
|
0.00029
|
|
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677
|
0.00029
|
|
NM_207581.4(DUOXA2):c.205+2T>C
|
rs201506037
|
0.00029
|
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
|
NM_000275.3(OCA2):c.45G>A (p.Pro15=)
|
rs202091837
|
0.00028
|
|
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)
|
rs563417983
|
0.00028
|
|
NM_000350.3(ABCA4):c.2744-5C>T
|
rs76305791
|
0.00028
|
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
|
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)
|
rs200679026
|
0.00028
|
|
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)
|
rs137899554
|
0.00028
|
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
|
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp)
|
rs148286708
|
0.00028
|
|
NM_001008537.3(NEXMIF):c.1716G>T (p.Glu572Asp)
|
rs148005156
|
0.00028
|
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
|
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)
|
rs371501734
|
0.00028
|
|
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=)
|
rs781805662
|
0.00028
|
|
NM_001114753.3(ENG):c.-63C>T
|
rs886063476
|
0.00028
|
|
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)
|
rs190024862
|
0.00028
|
|
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg)
|
rs780953179
|
0.00028
|
|
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=)
|
rs150870424
|
0.00028
|
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
|
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=)
|
rs372058698
|
0.00028
|
|
NM_001142864.4(PIEZO1):c.5105C>T (p.Thr1702Met)
|
rs377701196
|
0.00028
|
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
|
NM_001267550.2(TTN):c.28463-14G>A
|
rs200917885
|
0.00028
|
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
|
NM_001277115.2(DNAH11):c.5875G>A (p.Ala1959Thr)
|
rs373077301
|
0.00028
|
|
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)
|
rs200978576
|
0.00028
|
|
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=)
|
rs142563956
|
0.00028
|
|
NM_001355436.2(SPTB):c.2480G>A (p.Arg827Gln)
|
rs150013838
|
0.00028
|
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
|
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)
|
rs145775351
|
0.00028
|
|
NM_001375883.1(GPR161):c.-5T>A
|
rs200635937
|
0.00028
|
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
|
NM_002294.3(LAMP2):c.-10C>T
|
rs201209341
|
0.00028
|
|
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe)
|
rs144607594
|
0.00028
|
|
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)
|
rs75487328
|
0.00028
|
|
NM_002778.4(PSAP):c.-28A>C
|
rs375720661
|
0.00028
|
|
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)
|
rs142530390
|
0.00028
|
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
|
NM_005271.5(GLUD1):c.393C>G (p.Val131=)
|
rs147496974
|
0.00028
|
|
NM_005422.4(TECTA):c.3103G>A (p.Glu1035Lys)
|
rs150512674
|
0.00028
|
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
|
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)
|
rs139182500
|
0.00028
|
|
NM_006947.4(SRP72):c.406G>A (p.Val136Ile)
|
rs145817936
|
0.00028
|
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
|
NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr)
|
rs137871492
|
0.00028
|
|
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu)
|
rs772776336
|
0.00028
|
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
|
NM_018943.3(TUBA8):c.902A>G (p.Gln301Arg)
|
rs2234333
|
0.00028
|
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
|
NM_024513.4(FYCO1):c.186C>T (p.Thr62=)
|
rs147216026
|
0.00028
|
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
|
NM_144997.7(FLCN):c.1149C>T (p.Leu383=)
|
rs150752548
|
0.00028
|
|
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val)
|
rs369045579
|
0.00028
|
|
NR_023343.3(RNU4ATAC):n.99T>C
|
rs145446412
|
0.00028
|
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
|
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)
|
rs199875457
|
0.00027
|
|
NM_000179.3(MSH6):c.-18G>T
|
rs199913053
|
0.00027
|
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
|
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=)
|
rs142646795
|
0.00027
|
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
|
NM_005876.5(SPEG):c.7320G>C (p.Glu2440Asp)
|
rs754980175
|
0.00027
|
|
NM_006955.3(ZNF33B):c.1564T>G (p.Leu522Val)
|
rs138366584
|
0.00027
|
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
|
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)
|
rs141993646
|
0.00027
|
|
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val)
|
rs193178384
|
0.00027
|
|
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu)
|
rs146075543
|
0.00027
|
|
NM_021098.3(CACNA1H):c.1310G>A (p.Arg437Gln)
|
rs59461207
|
0.00027
|
|
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)
|
rs143234424
|
0.00027
|
|
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)
|
rs143396390
|
0.00027
|
|
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu)
|
rs199792315
|
0.00027
|
|
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg)
|
rs142929745
|
0.00027
|
|
NM_052945.4(TNFRSF13C):c.246C>T (p.Pro82=)
|
rs779365266
|
0.00027
|
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
|
NM_173076.3(ABCA12):c.2078C>A (p.Ser693Tyr)
|
rs148445044
|
0.00027
|
|
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val)
|
rs147324438
|
0.00027
|
|
NM_182894.3(VSX2):c.750G>A (p.Pro250=)
|
rs192712847
|
0.00027
|
|
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
|
rs200836164
|
0.00027
|
|
NM_183357.3(ADCY5):c.208G>C (p.Ala70Pro)
|
rs559947047
|
0.00027
|
|
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=)
|
rs149566576
|
0.00027
|
|
NM_000037.4(ANK1):c.675C>T (p.Leu225=)
|
rs146507999
|
0.00026
|
|
NM_000043.6(FAS):c.578A>G (p.Lys193Arg)
|
rs150489856
|
0.00026
|
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
|
NM_000059.4(BRCA2):c.4813G>A (p.Val1605Ile)
|
rs786201175
|
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_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
|
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg)
|
rs202210475
|
0.00026
|
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
|
NM_000218.3(KCNQ1):c.386+14C>T
|
rs370023636
|
0.00026
|
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
|
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)
|
rs77938727
|
0.00026
|
|
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
|
rs200274258
|
0.00026
|
|
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)
|
rs149507807
|
0.00026
|
|
NM_000379.4(XDH):c.704C>T (p.Thr235Met)
|
rs45469499
|
0.00026
|
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
|
NM_000419.5(ITGA2B):c.671-13C>T
|
rs200108644
|
0.00026
|
|
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val)
|
rs368146879
|
0.00026
|
|
NM_000478.6(ALPL):c.1002C>T (p.Gly334=)
|
rs370122334
|
0.00026
|
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
|
NM_000507.4(FBP1):c.906C>T (p.Ala302=)
|
rs28369776
|
0.00026
|
|
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)
|
rs13306515
|
0.00026
|
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
|
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp)
|
rs149565907
|
0.00026
|
|
NM_000639.3(FASLG):c.360G>C (p.Gln120His)
|
rs372615226
|
0.00026
|
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
|
NM_001048174.2(MUTYH):c.-6-14T>A
|
rs587781284
|
0.00026
|
|
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val)
|
rs145251229
|
0.00026
|
|
NM_001130987.2(DYSF):c.2217-11G>A
|
rs200853014
|
0.00026
|
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
|
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp)
|
rs202145313
|
0.00026
|
|
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)
|
rs149471462
|
0.00026
|
|
NM_001166108.2(PALLD):c.1965-12616C>T
|
rs121908291
|
0.00026
|
|
NM_001198950.3(MYO16):c.2868G>A (p.Met956Ile)
|
rs144450367
|
0.00026
|
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
|
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)
|
rs149910892
|
0.00026
|
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
|
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)
|
rs201662134
|
0.00026
|
|
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)
|
rs56052239
|
0.00026
|
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00026
|
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
|
NM_001277115.2(DNAH11):c.6621T>A (p.Ala2207=)
|
rs574427839
|
0.00026
|
|
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=)
|
rs185667241
|
0.00026
|
|
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg)
|
rs183149417
|
0.00026
|
|
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)
|
rs273585623
|
0.00026
|
|
NM_001367624.2(ZNF469):c.7981G>A (p.Gly2661Ser)
|
rs138259179
|
0.00026
|
|
NM_001369.3(DNAH5):c.382G>A (p.Val128Met)
|
rs200553244
|
0.00026
|
|
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu)
|
rs148367422
|
0.00026
|
|
NM_001376013.1(EPB41):c.848C>T (p.Thr283Ile)
|
rs189183599
|
0.00026
|
|
NM_001378418.1(TCF20):c.1029A>C (p.Gln343His)
|
rs150925429
|
0.00026
|
|
NM_001493.3(GDI1):c.696C>T (p.Gly232=)
|
rs146653767
|
0.00026
|
|
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565
|
0.00026
|
|
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)
|
rs139633545
|
0.00026
|
|
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)
|
rs149560153
|
0.00026
|
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
|
NM_003001.5(SDHC):c.405+23C>T
|
rs373731336
|
0.00026
|
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
|
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu)
|
rs201572812
|
0.00026
|
|
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=)
|
rs370000816
|
0.00026
|
|
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)
|
rs199768095
|
0.00026
|
|
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=)
|
rs140106241
|
0.00026
|
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
|
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)
|
rs115246424
|
0.00026
|
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
|
NM_004766.3(COPB2):c.2543C>T (p.Thr848Ile)
|
rs138135248
|
0.00026
|
|
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=)
|
rs371979518
|
0.00026
|
|
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)
|
rs201507590
|
0.00026
|
|
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser)
|
rs115577014
|
0.00026
|
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
|
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro)
|
rs587783633
|
0.00026
|
|
NM_005422.4(TECTA):c.1651G>A (p.Val551Met)
|
rs200857366
|
0.00026
|
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
|
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys)
|
rs148146011
|
0.00026
|
|
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr)
|
rs200473895
|
0.00026
|
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
|
NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser)
|
rs142643033
|
0.00026
|
|
NM_015151.4(DIP2A):c.1021C>T (p.Arg341Cys)
|
rs201175279
|
0.00026
|
|
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=)
|
rs201893489
|
0.00026
|
|
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr)
|
rs142823078
|
0.00026
|
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
|
NM_022041.4(GAN):c.974-11G>C
|
rs753746307
|
0.00026
|
|
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln)
|
rs377070695
|
0.00026
|
|
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser)
|
rs185665930
|
0.00026
|
|
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)
|
rs200874968
|
0.00026
|
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
|
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile)
|
rs199988497
|
0.00026
|
|
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)
|
rs201215628
|
0.00026
|
|
NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe)
|
rs201421128
|
0.00026
|
|
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)
|
rs140118684
|
0.00026
|
|
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)
|
rs147191956
|
0.00026
|
|
NM_198994.3(TGM6):c.1171G>A (p.Val391Met)
|
rs116904482
|
0.00026
|
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
|
NM_000124.4(ERCC6):c.438C>T (p.Ser146=)
|
rs138756386
|
0.00025
|
|
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)
|
rs56369086
|
0.00025
|
|
NM_000432.4(MYL2):c.275-14G>C
|
rs375703502
|
0.00025
|
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
|
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)
|
rs141633456
|
0.00025
|
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
|
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=)
|
rs375858093
|
0.00025
|
|
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=)
|
rs200156713
|
0.00025
|
|
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu)
|
rs370206339
|
0.00025
|
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
|
NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser)
|
rs147399432
|
0.00025
|
|
NM_001330700.2(TOP2B):c.1285G>A (p.Val429Ile)
|
rs200329755
|
0.00025
|
|
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=)
|
rs187572602
|
0.00025
|
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00025
|
|
NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val)
|
rs144367111
|
0.00025
|
|
NM_001429.4(EP300):c.5172C>A (p.Thr1724=)
|
rs142330184
|
0.00025
|
|
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=)
|
rs145645897
|
0.00025
|
|
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)
|
rs150129180
|
0.00025
|
|
NM_002473.6(MYH9):c.1479G>A (p.Gln493=)
|
rs376262583
|
0.00025
|
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
|
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)
|
rs146228576
|
0.00025
|
|
NM_003282.4(TNNI2):c.102G>A (p.Glu34=)
|
rs143863270
|
0.00025
|
|
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His)
|
rs3782356
|
0.00025
|
|
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val)
|
rs139944598
|
0.00025
|
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
|
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
|
rs397507456
|
0.00025
|
|
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser)
|
rs144342633
|
0.00025
|
|
NM_005045.4(RELN):c.1144-15T>C
|
rs2301560
|
0.00025
|
|
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly)
|
rs138598422
|
0.00025
|
|
NM_005618.4(DLL1):c.303C>A (p.Asp101Glu)
|
rs201394102
|
0.00025
|
|
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His)
|
rs142573103
|
0.00025
|
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
|
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala)
|
rs200278015
|
0.00025
|
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
|
NM_015158.5(KANK1):c.3554-5T>A
|
rs76738278
|
0.00025
|
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
|
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp)
|
rs199995104
|
0.00025
|
|
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)
|
rs142574684
|
0.00025
|
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659
|
0.00025
|
|
NM_032229.3(SLITRK6):c.1318T>G (p.Leu440Val)
|
rs200767869
|
0.00025
|
|
NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp)
|
rs148936043
|
0.00025
|
|
NM_138694.4(PKHD1):c.130+9G>A
|
rs367608402
|
0.00025
|
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
|
NM_172201.2(KCNE2):c.80G>A (p.Arg27His)
|
rs148968498
|
0.00025
|
|
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg)
|
rs148758903
|
0.00025
|
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
|
NM_000059.4(BRCA2):c.6455C>A (p.Ser2152Tyr)
|
rs80358881
|
0.00024
|
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
|
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn)
|
rs149483341
|
0.00024
|
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
|
NM_000359.3(TGM1):c.167C>T (p.Ala56Val)
|
rs147479810
|
0.00024
|
|
NM_000372.5(TYR):c.454C>T (p.Pro152Ser)
|
rs145513733
|
0.00024
|
|
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp)
|
rs200583769
|
0.00024
|
|
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)
|
rs148498577
|
0.00024
|
|
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro)
|
rs149174359
|
0.00024
|
|
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala)
|
rs140680467
|
0.00024
|
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
|
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His)
|
rs144830879
|
0.00024
|
|
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)
|
rs144935367
|
0.00024
|
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00024
|
|
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
|
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln)
|
rs373335068
|
0.00024
|
|
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe)
|
rs375818733
|
0.00024
|
|
NM_000883.4(IMPDH1):c.624C>G (p.Pro208=)
|
rs758909916
|
0.00024
|
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
|
NM_001035.3(RYR2):c.-63G>T
|
rs578020342
|
0.00024
|
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
|
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys)
|
rs146482011
|
0.00024
|
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
|
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter)
|
rs141262371
|
0.00024
|
|
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys)
|
rs138841970
|
0.00024
|
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
|
NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val)
|
rs539005229
|
0.00024
|
|
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu)
|
rs202191938
|
0.00024
|
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
|
NM_001204.7(BMPR2):c.1766A>G (p.Tyr589Cys)
|
rs199915496
|
0.00024
|
|
NM_001244008.2(KIF1A):c.4744-5C>T
|
rs117815481
|
0.00024
|
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
|
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)
|
rs199505541
|
0.00024
|
|
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys)
|
rs117729990
|
0.00024
|
|
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly)
|
rs199864090
|
0.00024
|
|
NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu)
|
rs147525173
|
0.00024
|
|
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val)
|
rs376875223
|
0.00024
|
|
NM_001360.3(DHCR7):c.987C>T (p.Pro329=)
|
rs145901607
|
0.00024
|
|
NM_001368882.1(COL13A1):c.289G>T (p.Asp97Tyr)
|
rs200138483
|
0.00024
|
|
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe)
|
rs148017278
|
0.00024
|
|
NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu)
|
rs375189210
|
0.00024
|
|
NM_001374828.1(ARID1B):c.2379T>C (p.His793=)
|
rs370364530
|
0.00024
|
|
NM_001375524.1(TRRAP):c.634-3C>T
|
rs113339948
|
0.00024
|
|
NM_001378183.1(PIEZO2):c.2755G>A (p.Glu919Lys)
|
rs564867814
|
0.00024
|
|
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu)
|
rs200797401
|
0.00024
|
|
NM_001395413.1(POR):c.1806+8G>A
|
rs72557952
|
0.00024
|
|
NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln)
|
rs754743917
|
0.00024
|
|
NM_001457.4(FLNB):c.7255G>A (p.Val2419Ile)
|
rs202143851
|
0.00024
|
|
NM_001458.5(FLNC):c.2733G>A (p.Lys911=)
|
rs374135903
|
0.00024
|
|
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)
|
rs200792813
|
0.00024
|
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
|
NM_002693.3(POLG):c.3482+7G>A
|
rs200309191
|
0.00024
|
|
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00024
|
|
NM_003321.5(TUFM):c.427G>A (p.Gly143Ser)
|
rs34283928
|
0.00024
|
|
NM_003465.3(CHIT1):c.445G>T (p.Ala149Ser)
|
rs117678693
|
0.00024
|
|
NM_003664.5(AP3B1):c.1168-9C>T
|
rs367648410
|
0.00024
|
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
|
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)
|
rs117749531
|
0.00024
|
|
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp)
|
rs368380934
|
0.00024
|
|
NM_004655.4(AXIN2):c.1637G>T (p.Gly546Val)
|
rs145717795
|
0.00024
|
|
NM_005045.4(RELN):c.59C>T (p.Thr20Met)
|
rs145135688
|
0.00024
|
|
NM_005585.5(SMAD6):c.224G>A (p.Arg75Gln)
|
rs373376338
|
0.00024
|
|
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg)
|
rs782560726
|
0.00024
|
|
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=)
|
rs138928104
|
0.00024
|
|
NM_006796.3(AFG3L2):c.2195A>G (p.Glu732Gly)
|
rs562544252
|
0.00024
|
|
NM_007272.3(CTRC):c.703G>A (p.Val235Ile)
|
rs140993290
|
0.00024
|
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
|
NM_015175.3(NBEAL2):c.1351C>G (p.Pro451Ala)
|
rs368375664
|
0.00024
|
|
NM_015335.5(MED13L):c.5732-3C>T
|
rs370245982
|
0.00024
|
|
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu)
|
rs41289850
|
0.00024
|
|
NM_015443.4(KANSL1):c.2725-7A>G
|
rs186818985
|
0.00024
|
|
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)
|
rs151296940
|
0.00024
|
|
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val)
|
rs200249886
|
0.00024
|
|
NM_018965.4(TREM2):c.*107G>T
|
rs530314472
|
0.00024
|
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00024
|
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
|
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)
|
rs201393598
|
0.00024
|
|
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=)
|
rs149577148
|
0.00024
|
|
NM_032119.4(ADGRV1):c.10322G>C (p.Gly3441Ala)
|
rs200464486
|
0.00024
|
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
|
NM_130466.4(UBE3B):c.2764C>T (p.Arg922Cys)
|
rs202144137
|
0.00024
|
|
NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys)
|
rs181448047
|
0.00024
|
|
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr)
|
rs192268080
|
0.00024
|
|
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
|
rs374650666
|
0.00024
|
|
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
|
NM_153427.2(PITX2):c.-967C>T
|
rs368647502
|
0.00024
|
|
NM_173689.7(CRB2):c.1429C>T (p.Arg477Cys)
|
rs146271715
|
0.00024
|
|
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr)
|
rs143628723
|
0.00024
|
|
NM_178452.6(DNAAF1):c.1645-19G>A
|
rs192432193
|
0.00024
|
|
NM_182894.3(VSX2):c.579G>A (p.Gln193=)
|
rs182972044
|
0.00024
|
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
|
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)
|
rs141852437
|
0.00024
|
|
NM_000037.4(ANK1):c.2097+15C>T
|
rs200206750
|
0.00023
|
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
|
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)
|
rs557057587
|
0.00023
|
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
|
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val)
|
rs35335654
|
0.00023
|
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
|
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)
|
rs200219480
|
0.00023
|
|
NM_000159.4(GCDH):c.738G>A (p.Ser246=)
|
rs188548539
|
0.00023
|
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
|
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)
|
rs199473436
|
0.00023
|
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
|
NM_000325.6(PITX2):c.619A>G (p.Met207Val)
|
rs138163892
|
0.00023
|
|
NM_000360.4(TH):c.1368C>T (p.Ser456=)
|
rs45538536
|
0.00023
|
|
NM_000382.3(ALDH3A2):c.1108-3C>T
|
rs148944691
|
0.00023
|
|
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)
|
rs200603552
|
0.00023
|
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
|
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val)
|
rs62621089
|
0.00023
|
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
|
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu)
|
rs201084372
|
0.00023
|
|
NM_003466.4(PAX8):c.-63C>A
|
rs866836744
|
0.00023
|
|
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=)
|
rs201686029
|
0.00023
|
|
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)
|
rs375673671
|
0.00023
|
|
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)
|
rs116617171
|
0.00023
|
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
|
NM_006231.4(POLE):c.761C>T (p.Pro254Leu)
|
rs200211438
|
0.00023
|
|
NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys)
|
rs147724326
|
0.00023
|
|
NM_007018.6(CNTRL):c.4601A>C (p.Gln1534Pro)
|
rs144086611
|
0.00023
|
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
|
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=)
|
rs145176345
|
0.00023
|
|
NM_014391.3(ANKRD1):c.652-10A>T
|
rs397517252
|
0.00023
|
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
|
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met)
|
rs201214320
|
0.00023
|
|
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)
|
rs199675568
|
0.00023
|
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
|
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg)
|
rs372214186
|
0.00023
|
|
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)
|
rs201883464
|
0.00023
|
|
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)
|
rs143449578
|
0.00023
|
|
NM_138477.4(CDAN1):c.2088G>A (p.Leu696=)
|
rs148759214
|
0.00023
|
|
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly)
|
rs148901752
|
0.00023
|
|
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys)
|
rs182743597
|
0.00023
|
|
NM_182961.4(SYNE1):c.9807+5C>T
|
rs185350092
|
0.00023
|
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
|
NM_000073.3(CD3G):c.496C>A (p.Arg166=)
|
rs201529449
|
0.00022
|
|
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=)
|
rs116657359
|
0.00022
|
|
NM_000143.4(FH):c.1237-7C>T
|
rs376260223
|
0.00022
|
|
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr)
|
rs143517122
|
0.00022
|
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
|
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)
|
rs150430628
|
0.00022
|
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
|
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)
|
rs141235562
|
0.00022
|
|
NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys)
|
rs116528173
|
0.00022
|
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
|
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)
|
rs137920189
|
0.00022
|
|
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr)
|
rs761368099
|
0.00022
|
|
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser)
|
rs150710956
|
0.00022
|
|
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr)
|
rs199853331
|
0.00022
|
|
NM_001109809.5(ZFP57):c.1118C>G (p.Ser373Cys)
|
rs193232883
|
0.00022
|
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
|
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=)
|
rs142385746
|
0.00022
|
|
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=)
|
rs372083517
|
0.00022
|
|
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val)
|
rs200637566
|
0.00022
|
|
NM_001177316.2(SLC34A3):c.1473C>T (p.Tyr491=)
|
rs148095831
|
0.00022
|
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
|
NM_001277115.2(DNAH11):c.5143C>T (p.Arg1715Cys)
|
rs531475386
|
0.00022
|
|
NM_001286577.2(C2CD3):c.4097C>T (p.Ser1366Leu)
|
rs144630140
|
0.00022
|
|
NM_001297.5(CNGB1):c.838-4G>T
|
rs375539469
|
0.00022
|
|
NM_001330260.2(SCN8A):c.3820-7T>C
|
rs375785915
|
0.00022
|
|
NM_001367624.2(ZNF469):c.1522G>A (p.Ala508Thr)
|
rs750005577
|
0.00022
|
|
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro)
|
rs766646786
|
0.00022
|
|
NM_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg)
|
rs145533843
|
0.00022
|
|
NM_001374828.1(ARID1B):c.2856G>T (p.Met952Ile)
|
rs376497842
|
0.00022
|
|
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)
|
rs141855494
|
0.00022
|
|
NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=)
|
rs138137158
|
0.00022
|
|
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=)
|
rs371986594
|
0.00022
|
|
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)
|
rs151178361
|
0.00022
|
|
NM_001384474.1(LOXHD1):c.1970+9G>A
|
rs532438706
|
0.00022
|
|
NM_001457.4(FLNB):c.1534G>A (p.Ala512Thr)
|
rs201544295
|
0.00022
|
|
NM_001493.3(GDI1):c.1167C>T (p.Pro389=)
|
rs140855833
|
0.00022
|
|
NM_001845.6(COL4A1):c.553-8C>T
|
rs199534388
|
0.00022
|
|
NM_001999.4(FBN2):c.5917+9T>G
|
rs371439173
|
0.00022
|
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
|
NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=)
|
rs199590656
|
0.00022
|
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
|
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys)
|
rs199796955
|
0.00022
|
|
NM_005631.5(SMO):c.536C>T (p.Thr179Met)
|
rs115491500
|
0.00022
|
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
|
NM_006950.3(SYN1):c.1569G>A (p.Ala523=)
|
rs587781185
|
0.00022
|
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
|
NM_015450.3(POT1):c.1228G>C (p.Asp410His)
|
rs79314063
|
0.00022
|
|
NM_015570.4(AUTS2):c.3776G>A (p.Arg1259Gln)
|
rs148604002
|
0.00022
|
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
|
NM_022356.4(P3H1):c.1428C>T (p.Gly476=)
|
rs141786883
|
0.00022
|
|
NM_022437.3(ABCG8):c.322+6G>A
|
rs181319879
|
0.00022
|
|
NM_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00022
|
|
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)
|
rs375921325
|
0.00022
|
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
|
NM_139058.3(ARX):c.336A>G (p.Ala112=)
|
rs794727308
|
0.00022
|
|
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg)
|
rs201719374
|
0.00022
|
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
|
NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys)
|
rs201548032
|
0.00022
|
|
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys)
|
rs376507352
|
0.00022
|
|
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His)
|
rs199794968
|
0.00022
|
|
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)
|
rs142941035
|
0.00022
|
|
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)
|
rs372256096
|
0.00022
|
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
|
NM_206965.2(FTCD):c.623G>A (p.Arg208His)
|
rs199508525
|
0.00022
|
|
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg)
|
rs201024919
|
0.00021
|
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
|
NM_000038.6(APC):c.564A>G (p.Gln188=)
|
rs377493489
|
0.00021
|
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
|
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)
|
rs200665694
|
0.00021
|
|
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
|
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val)
|
rs150332158
|
0.00021
|
|
NM_000144.5(FXN):c.179G>A (p.Arg60His)
|
rs141858334
|
0.00021
|
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
|
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile)
|
rs374655803
|
0.00021
|
|
NM_000330.4(RS1):c.264G>C (p.Gln88His)
|
rs201680258
|
0.00021
|
|
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)
|
rs200517944
|
0.00021
|
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
|
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu)
|
rs145778165
|
0.00021
|
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
|
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)
|
rs201434579
|
0.00021
|
|
NM_000553.6(WRN):c.3820-12A>G
|
rs374684032
|
0.00021
|
|
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)
|
rs121912283
|
0.00021
|
|
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His)
|
rs143103435
|
0.00021
|
|
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=)
|
rs144353639
|
0.00021
|
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
|
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)
|
rs150043310
|
0.00021
|
|
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp)
|
rs746156911
|
0.00021
|
|
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile)
|
rs561830314
|
0.00021
|
|
NM_001142864.4(PIEZO1):c.1001C>T (p.Ala334Val)
|
rs574402639
|
0.00021
|
|
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp)
|
rs959344565
|
0.00021
|
|
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr)
|
rs142210216
|
0.00021
|
|
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile)
|
rs189232206
|
0.00021
|
|
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)
|
rs202050860
|
0.00021
|
|
NM_001184.4(ATR):c.483A>G (p.Arg161=)
|
rs182268224
|
0.00021
|
|
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)
|
rs199996308
|
0.00021
|
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
|
NM_001276345.2(TNNT2):c.200-11A>G
|
rs368658464
|
0.00021
|
|
NM_001277115.2(DNAH11):c.4306C>T (p.Arg1436Trp)
|
rs183489539
|
0.00021
|
|
NM_001277115.2(DNAH11):c.8572G>A (p.Gly2858Ser)
|
rs201501951
|
0.00021
|
|
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)
|
rs145823218
|
0.00021
|
|
NM_001367624.2(ZNF469):c.5915G>T (p.Gly1972Val)
|
rs573931575
|
0.00021
|
|
NM_001367805.3(KIF23):c.690A>G (p.Ile230Met)
|
rs199679829
|
0.00021
|
|
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu)
|
rs766187468
|
0.00021
|
|
NM_001378687.1(ATP2C1):c.2058-17T>C
|
rs117316812
|
0.00021
|
|
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)
|
rs369039902
|
0.00021
|
|
NM_001395413.1(POR):c.735C>T (p.Tyr245=)
|
rs201786397
|
0.00021
|
|
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)
|
rs121434424
|
0.00021
|
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
|
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)
|
rs200474454
|
0.00021
|
|
NM_002900.3(RBP3):c.1514A>T (p.His505Leu)
|
rs201808774
|
0.00021
|
|
NM_003282.4(TNNI2):c.333A>G (p.Pro111=)
|
rs201133081
|
0.00021
|
|
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)
|
rs147948716
|
0.00021
|
|
NM_003722.5(TP63):c.504C>T (p.Asn168=)
|
rs141278696
|
0.00021
|
|
NM_004064.5(CDKN1B):c.-80C>T
|
rs551236750
|
0.00021
|
|
NM_004104.5(FASN):c.3829C>G (p.Pro1277Ala)
|
rs764159372
|
0.00021
|
|
NM_004463.3(FGD1):c.1563C>T (p.Pro521=)
|
rs201996522
|
0.00021
|
|
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)
|
rs118192254
|
0.00021
|
|
NM_004667.6(HERC2):c.10474T>C (p.Ser3492Pro)
|
rs185865505
|
0.00021
|
|
NM_004795.4(KL):c.387C>T (p.Tyr129=)
|
rs373385333
|
0.00021
|
|
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser)
|
rs201422815
|
0.00021
|
|
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)
|
rs199634245
|
0.00021
|
|
NM_005996.4(TBX3):c.700A>G (p.Ile234Val)
|
rs117465019
|
0.00021
|
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
|
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)
|
rs200239821
|
0.00021
|
|
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)
|
rs200178859
|
0.00021
|
|
NM_006343.3(MERTK):c.1390G>A (p.Val464Ile)
|
rs148833587
|
0.00021
|
|
NM_006343.3(MERTK):c.2079+10del
|
rs529766238
|
0.00021
|
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
|
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)
|
rs80356920
|
0.00021
|
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
|
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp)
|
rs150851309
|
0.00021
|
|
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)
|
rs144303334
|
0.00021
|
|
NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile)
|
rs199683454
|
0.00021
|
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
0.00021
|
|
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly)
|
rs190693455
|
0.00021
|
|
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)
|
rs188955444
|
0.00021
|
|
NM_018418.5(SPATA7):c.387G>A (p.Pro129=)
|
rs199727517
|
0.00021
|
|
NM_020529.3(NFKBIA):c.337-20G>A
|
rs371120371
|
0.00021
|
|
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)
|
rs141281093
|
0.00021
|
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
|
NM_024642.5(GALNT12):c.303C>G (p.His101Gln)
|
rs201926457
|
0.00021
|
|
NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu)
|
rs186975400
|
0.00021
|
|
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe)
|
rs767087695
|
0.00021
|
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00021
|
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
|
NM_175914.5(HNF4A):c.427-4G>A
|
rs146751799
|
0.00021
|
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
|
NM_198994.3(TGM6):c.304G>A (p.Ala102Thr)
|
rs150088385
|
0.00021
|
|
NM_198994.3(TGM6):c.940G>A (p.Val314Met)
|
rs202184911
|
0.00021
|
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
|
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)
|
rs80358521
|
0.00020
|
|
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly)
|
rs80358725
|
0.00020
|
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
|
NM_000097.7(CPOX):c.878C>T (p.Ala293Val)
|
rs140475004
|
0.00020
|
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
|
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln)
|
rs148845653
|
0.00020
|
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
|
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)
|
rs199472781
|
0.00020
|
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
|
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)
|
rs150154235
|
0.00020
|
|
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)
|
rs147075345
|
0.00020
|
|
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His)
|
rs568675071
|
0.00020
|
|
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser)
|
rs181890907
|
0.00020
|
|
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647
|
0.00020
|
|
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu)
|
rs368912483
|
0.00020
|
|
NM_001166114.2(PNPLA6):c.4024-13C>T
|
rs78093267
|
0.00020
|
|
NM_001170629.2(CHD8):c.4921+5G>A
|
rs377595194
|
0.00020
|
|
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)
|
rs201029552
|
0.00020
|
|
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)
|
rs200609513
|
0.00020
|
|
NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr)
|
rs374186868
|
0.00020
|
|
NM_001330311.2(DVL1):c.473G>A (p.Arg158Gln)
|
rs150617550
|
0.00020
|
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
|
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys)
|
rs145651189
|
0.00020
|
|
NM_002474.3(MYH11):c.1034-12T>G
|
rs184847335
|
0.00020
|
|
NM_002863.5(PYGL):c.691G>A (p.Val231Met)
|
rs148378112
|
0.00020
|
|
NM_003072.5(SMARCA4):c.2275-10G>A
|
rs375787249
|
0.00020
|
|
NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe)
|
rs143753116
|
0.00020
|
|
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly)
|
rs546234840
|
0.00020
|
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
|
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu)
|
rs143227399
|
0.00020
|
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
|
NM_005535.3(IL12RB1):c.824C>T (p.Ala275Val)
|
rs201831465
|
0.00020
|
|
NM_005618.4(DLL1):c.1981C>T (p.Arg661Cys)
|
rs61757616
|
0.00020
|
|
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)
|
rs201486613
|
0.00020
|
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
|
NM_015687.5(FILIP1):c.923C>T (p.Ser308Leu)
|
rs371050880
|
0.00020
|
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
|
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile)
|
rs56015306
|
0.00020
|
|
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
|
rs141065357
|
0.00020
|
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
rs75023630
|
0.00020
|
|
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val)
|
rs144085805
|
0.00020
|
|
NM_032581.4(HYCC1):c.831+10T>C
|
rs199912375
|
0.00020
|
|
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=)
|
rs147735490
|
0.00020
|
|
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser)
|
rs142132973
|
0.00020
|
|
NM_138927.4(SON):c.4228G>A (p.Val1410Ile)
|
rs144716297
|
0.00020
|
|
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys)
|
rs199955493
|
0.00020
|
|
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)
|
rs187218889
|
0.00020
|
|
NM_182914.3(SYNE2):c.13918-6T>C
|
rs187859624
|
0.00020
|
|
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His)
|
rs538344879
|
0.00020
|
|
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr)
|
rs145556189
|
0.00020
|
|
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser)
|
rs139564938
|
0.00020
|
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
|
NM_000026.4(ADSL):c.357+7G>A
|
rs199993991
|
0.00019
|
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
|
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu)
|
rs201629780
|
0.00019
|
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
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.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
|
NM_000069.3(CACNA1S):c.3256-12T>A
|
rs374335683
|
0.00019
|
|
NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu)
|
rs368884003
|
0.00019
|
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
|
NM_000207.3(INS):c.-153C>G
|
rs915076855
|
0.00019
|
|
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=)
|
rs61737080
|
0.00019
|
|
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile)
|
rs2229013
|
0.00019
|
|
NM_000218.3(KCNQ1):c.386+16216G>A
|
rs201090517
|
0.00019
|
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
|
NM_000306.4(POU1F1):c.666-6C>T
|
rs201995103
|
0.00019
|
|
NM_000337.6(SGCD):c.699+18C>G
|
rs180898690
|
0.00019
|
|
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=)
|
rs200417237
|
0.00019
|
|
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr)
|
rs566929141
|
0.00019
|
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
|
NM_000433.4(NCF2):c.298C>G (p.Gln100Glu)
|
rs119103276
|
0.00019
|
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00019
|
|
NM_000492.4(CFTR):c.3963+69A>G
|
rs540577876
|
0.00019
|
|
NM_000506.5(F2):c.798C>T (p.Asp266=)
|
rs138260543
|
0.00019
|
|
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)
|
rs138058578
|
0.00019
|
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
|
NM_000540.3(RYR1):c.1123-11C>T
|
rs3745845
|
0.00019
|
|
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=)
|
rs200427576
|
0.00019
|
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
|
NM_000628.5(IL10RB):c.645C>T (p.Asp215=)
|
rs148468217
|
0.00019
|
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
|
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)
|
rs199832006
|
0.00019
|
|
NM_001080421.3(UNC13A):c.452T>C (p.Met151Thr)
|
rs199919434
|
0.00019
|
|
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn)
|
rs567309902
|
0.00019
|
|
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)
|
rs781816931
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)
|
rs17846921
|
0.00019
|
|
NM_001134363.3(RBM20):c.3633G>A (p.Pro1211=)
|
rs781373863
|
0.00019
|
|
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile)
|
rs776788949
|
0.00019
|
|
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val)
|
rs532112751
|
0.00019
|
|
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His)
|
rs377748897
|
0.00019
|
|
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser)
|
rs199903114
|
0.00019
|
|
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met)
|
rs377375638
|
0.00019
|
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
|
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989
|
0.00019
|
|
NM_001220.5(CAMK2B):c.1466C>T (p.Pro489Leu)
|
rs555460132
|
0.00019
|
|
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)
|
rs201312113
|
0.00019
|
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
0.00019
|
|
NM_001261826.3(AP3D1):c.2254A>G (p.Lys752Glu)
|
rs201042393
|
0.00019
|
|
NM_001267550.2(TTN):c.14424G>C (p.Val4808=)
|
rs374479775
|
0.00019
|
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
|
NM_001277115.2(DNAH11):c.13132G>A (p.Gly4378Ser)
|
rs374818694
|
0.00019
|
|
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=)
|
rs200698497
|
0.00019
|
|
NM_001330311.2(DVL1):c.1592C>T (p.Pro531Leu)
|
rs199505104
|
0.00019
|
|
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)
|
rs367685759
|
0.00019
|
|
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)
|
rs138832246
|
0.00019
|
|
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu)
|
rs150095347
|
0.00019
|
|
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=)
|
rs201863754
|
0.00019
|
|
NM_001458.5(FLNC):c.3790+5G>A
|
rs199917473
|
0.00019
|
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00019
|
|
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=)
|
rs757948524
|
0.00019
|
|
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala)
|
rs140954784
|
0.00019
|
|
NM_001909.5(CTSD):c.294G>A (p.Thr98=)
|
rs369373285
|
0.00019
|
|
NM_002474.3(MYH11):c.5172-13G>A
|
rs373378619
|
0.00019
|
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
|
NM_002878.4(RAD51D):c.*7C>T
|
rs370985675
|
0.00019
|
|
NM_003098.3(SNTA1):c.1157C>T (p.Pro386Leu)
|
rs200865199
|
0.00019
|
|
NM_003465.3(CHIT1):c.56-6G>A
|
rs190551025
|
0.00019
|
|
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=)
|
rs201219613
|
0.00019
|
|
NM_003504.5(CDC45):c.705-5T>C
|
rs201892503
|
0.00019
|
|
NM_004006.3(DMD):c.4072-3T>C
|
rs751657094
|
0.00019
|
|
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)
|
rs377080659
|
0.00019
|
|
NM_004187.5(KDM5C):c.536G>A (p.Arg179His)
|
rs201805773
|
0.00019
|
|
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe)
|
rs200739251
|
0.00019
|
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
|
NM_004985.5(KRAS):c.451-5535A>C
|
rs201170656
|
0.00019
|
|
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
|
rs138272051
|
0.00019
|
|
NM_005535.3(IL12RB1):c.581-17G>A
|
rs370354493
|
0.00019
|
|
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln)
|
rs200996196
|
0.00019
|
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
|
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)
|
rs201352584
|
0.00019
|
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
|
NM_006922.4(SCN3A):c.363T>C (p.Ala121=)
|
rs145171998
|
0.00019
|
|
NM_007124.3(UTRN):c.5634A>C (p.Lys1878Asn)
|
rs61738782
|
0.00019
|
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
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_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
|
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=)
|
rs184994408
|
0.00019
|
|
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=)
|
rs370095062
|
0.00019
|
|
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)
|
rs143877538
|
0.00019
|
|
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=)
|
rs140351132
|
0.00019
|
|
NM_014908.4(DOLK):c.1437T>C (p.Ser479=)
|
rs574290806
|
0.00019
|
|
NM_015330.6(SPECC1L):c.2440G>A (p.Val814Ile)
|
rs139167350
|
0.00019
|
|
NM_015665.6(AAAS):c.996+12C>T
|
rs200312077
|
0.00019
|
|
NM_016343.4(CENPF):c.3352C>G (p.Gln1118Glu)
|
rs200341117
|
0.00019
|
|
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)
|
rs141868759
|
0.00019
|
|
NM_018010.4(IFT57):c.475A>G (p.Ile159Val)
|
rs144087221
|
0.00019
|
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
|
NM_019066.5(MAGEL2):c.434C>T (p.Pro145Leu)
|
rs372352945
|
0.00019
|
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00019
|
|
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)
|
rs74315318
|
0.00019
|
|
NM_024079.5(ALG8):c.154A>G (p.Ile52Val)
|
rs138293432
|
0.00019
|
|
NM_030773.4(TUBB1):c.400C>T (p.Gln134Ter)
|
rs199948010
|
0.00019
|
|
NM_030787.4(CFHR5):c.508G>A (p.Val170Met)
|
rs201073457
|
0.00019
|
|
NM_031433.4(MFRP):c.192C>G (p.Arg64=)
|
rs200143181
|
0.00019
|
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
|
NM_032409.3(PINK1):c.858G>A (p.Pro286=)
|
rs148144773
|
0.00019
|
|
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)
|
rs151319255
|
0.00019
|
|
NM_144643.4(SCLT1):c.656T>C (p.Val219Ala)
|
rs199943075
|
0.00019
|
|
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala)
|
rs192888493
|
0.00019
|
|
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile)
|
rs200996095
|
0.00019
|
|
NM_175875.5(SIX5):c.1366C>T (p.Leu456Phe)
|
rs569540038
|
0.00019
|
|
NM_175914.5(HNF4A):c.724G>A (p.Val242Met)
|
rs139779712
|
0.00019
|
|
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys)
|
rs143204089
|
0.00019
|
|
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser)
|
rs372150492
|
0.00019
|
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
|
NM_194248.3(OTOF):c.5029G>A (p.Ala1677Thr)
|
rs372908847
|
0.00019
|
|
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)
|
rs142857810
|
0.00019
|
|
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)
|
rs201211875
|
0.00019
|
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
|
NM_000059.4(BRCA2):c.7976+23C>T
|
rs183623188
|
0.00018
|
|
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)
|
rs377459546
|
0.00018
|
|
NM_000162.5(GCK):c.208+16C>T
|
rs377747439
|
0.00018
|
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
|
NM_000294.3(PHKG2):c.921G>T (p.Arg307=)
|
rs201113602
|
0.00018
|
|
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser)
|
rs187055074
|
0.00018
|
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00018
|
|
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)
|
rs13306300
|
0.00018
|
|
NM_000397.4(CYBB):c.855G>A (p.Leu285=)
|
rs782293433
|
0.00018
|
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
|
NM_000465.4(BARD1):c.2082C>T (p.Leu694=)
|
rs139620052
|
0.00018
|
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
|
NM_000719.7(CACNA1C):c.4140+4G>A
|
rs111442547
|
0.00018
|
|
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser)
|
rs140196536
|
0.00018
|
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
|
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385
|
0.00018
|
|
NM_001130438.3(SPTAN1):c.2011+10G>A
|
rs377437879
|
0.00018
|
|
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His)
|
rs149596493
|
0.00018
|
|
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)
|
rs115623365
|
0.00018
|
|
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)
|
rs199957886
|
0.00018
|
|
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)
|
rs199937246
|
0.00018
|
|
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser)
|
rs376611641
|
0.00018
|
|
NM_001166114.2(PNPLA6):c.714+6T>G
|
rs368637145
|
0.00018
|
|
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=)
|
rs372006606
|
0.00018
|
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00018
|
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
|
NM_001277115.2(DNAH11):c.3281T>A (p.Val1094Asp)
|
rs369213196
|
0.00018
|
|
NM_001277115.2(DNAH11):c.4224G>T (p.Arg1408Ser)
|
rs200216579
|
0.00018
|
|
NM_001288705.3(CSF1R):c.110C>T (p.Thr37Met)
|
rs139635308
|
0.00018
|
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
|
NM_001367624.2(ZNF469):c.248C>T (p.Pro83Leu)
|
rs775103017
|
0.00018
|
|
NM_001369.3(DNAH5):c.1967C>T (p.Ala656Val)
|
rs147911274
|
0.00018
|
|
NM_001374828.1(ARID1B):c.980C>G (p.Pro327Arg)
|
rs775385239
|
0.00018
|
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
|
NM_001943.5(DSG2):c.2334+9G>A
|
rs776516070
|
0.00018
|
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
|
NM_003072.5(SMARCA4):c.4171-1858T>A
|
rs201309716
|
0.00018
|
|
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His)
|
rs201822255
|
0.00018
|
|
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)
|
rs532711949
|
0.00018
|
|
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)
|
rs199588981
|
0.00018
|
|
NM_004463.3(FGD1):c.2289G>A (p.Lys763=)
|
rs150865566
|
0.00018
|
|
NM_004793.4(LONP1):c.2203G>A (p.Val735Met)
|
rs200317240
|
0.00018
|
|
NM_004924.6(ACTN4):c.1291+4C>T
|
rs201704771
|
0.00018
|
|
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly)
|
rs138391404
|
0.00018
|
|
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)
|
rs115035120
|
0.00018
|
|
NM_005314.3(GRPR):c.242G>A (p.Ser81Asn)
|
rs147393092
|
0.00018
|
|
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp)
|
rs148098950
|
0.00018
|
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
|
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)
|
rs147834269
|
0.00018
|
|
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=)
|
rs201884756
|
0.00018
|
|
NM_006231.4(POLE):c.5636G>A (p.Arg1879His)
|
rs145621558
|
0.00018
|
|
NM_006892.4(DNMT3B):c.307-15C>G
|
rs150718732
|
0.00018
|
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
|
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser)
|
rs141278078
|
0.00018
|
|
NM_014000.3(VCL):c.81C>T (p.His27=)
|
rs200733607
|
0.00018
|
|
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn)
|
rs201365992
|
0.00018
|
|
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=)
|
rs369101323
|
0.00018
|
|
NM_032737.4(LMNB2):c.1681C>T (p.Arg561Cys)
|
rs751633226
|
0.00018
|
|
NM_033380.3(COL4A5):c.3374-11C>A
|
rs104886387
|
0.00018
|
|
NM_080680.3(COL11A2):c.2017-5T>G
|
rs200523422
|
0.00018
|
|
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)
|
rs199643834
|
0.00018
|
|
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr)
|
rs148492034
|
0.00018
|
|
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln)
|
rs141882853
|
0.00018
|
|
NM_182961.4(SYNE1):c.24150C>T (p.His8050=)
|
rs140259310
|
0.00018
|
|
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr)
|
rs146618661
|
0.00018
|
|
NM_198904.4(GABRG2):c.107+12C>T
|
rs369466385
|
0.00018
|
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
|
NM_000081.4(LYST):c.2700A>G (p.Leu900=)
|
rs111463684
|
0.00017
|
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
|
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)
|
rs147176389
|
0.00017
|
|
NM_000203.5(IDUA):c.630C>T (p.Arg210=)
|
rs376012666
|
0.00017
|
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
|
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)
|
rs186634115
|
0.00017
|
|
NM_000360.4(TH):c.679G>A (p.Glu227Lys)
|
rs536382000
|
0.00017
|
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
|
NM_000548.5(TSC2):c.148A>G (p.Met50Val)
|
rs140618379
|
0.00017
|
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00017
|
|
NM_001032386.2(SUOX):c.51-14G>A
|
rs141432255
|
0.00017
|
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
|
NM_001083961.2(WDR62):c.1233+7C>G
|
rs537771936
|
0.00017
|
|
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=)
|
rs147706810
|
0.00017
|
|
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)
|
rs770023115
|
0.00017
|
|
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys)
|
rs200555425
|
0.00017
|
|
NM_001164508.2(NEB):c.6807+10T>C
|
rs375723456
|
0.00017
|
|
NM_001201550.3(CFHR4):c.1235G>A (p.Arg412Gln)
|
rs200135698
|
0.00017
|
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
|
NM_001377540.1(SLMAP):c.2020+5A>G
|
rs199881493
|
0.00017
|
|
NM_001614.5(ACTG1):c.825C>T (p.His275=)
|
rs145303691
|
0.00017
|
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
|
NM_003072.5(SMARCA4):c.425G>T (p.Gly142Val)
|
rs145749221
|
0.00017
|
|
NM_003673.4(TCAP):c.270G>A (p.Pro90=)
|
rs372538567
|
0.00017
|
|
NM_004006.3(DMD):c.5076A>G (p.Thr1692=)
|
rs145181319
|
0.00017
|
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
|
NM_004463.3(FGD1):c.27C>T (p.Gly9=)
|
rs377441190
|
0.00017
|
|
NM_004463.3(FGD1):c.62A>T (p.Asn21Ile)
|
rs779475596
|
0.00017
|
|
NM_004656.4(BAP1):c.404C>T (p.Pro135Leu)
|
rs374928824
|
0.00017
|
|
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys)
|
rs201664019
|
0.00017
|
|
NM_004958.4(MTOR):c.1051C>T (p.Pro351Ser)
|
rs147774167
|
0.00017
|
|
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
|
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His)
|
rs116034780
|
0.00017
|
|
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly)
|
rs149459548
|
0.00017
|
|
NM_007294.4(BRCA1):c.-125C>T
|
rs148196794
|
0.00017
|
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00017
|
|
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
|
rs375968367
|
0.00017
|
|
NM_014908.4(DOLK):c.579G>A (p.Glu193=)
|
rs28365522
|
0.00017
|
|
NM_014989.7(RIMS1):c.3399-4A>G
|
rs368216570
|
0.00017
|
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
|
NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg)
|
rs201905772
|
0.00017
|
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
|
NM_017780.4(CHD7):c.6103+6T>C
|
rs371509438
|
0.00017
|
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
|
NM_024589.3(ROGDI):c.532-4G>A
|
rs3747610
|
0.00017
|
|
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=)
|
rs139206060
|
0.00017
|
|
NM_024876.4(COQ8B):c.706G>A (p.Val236Met)
|
rs146225943
|
0.00017
|
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
|
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
|
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln)
|
rs145507832
|
0.00017
|
|
NM_138711.6(PPARG):c.391-3C>T
|
rs370830238
|
0.00017
|
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
|
NM_182914.3(SYNE2):c.14139+5G>A
|
rs374778697
|
0.00017
|
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
|
NM_182961.4(SYNE1):c.582-9A>G
|
rs200412221
|
0.00017
|
|
NM_000017.4(ACADS):c.465C>T (p.Ser155=)
|
rs141492002
|
0.00016
|
|
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)
|
rs151163793
|
0.00016
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
|
NM_000059.4(BRCA2):c.9649-20C>T
|
rs56177715
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)
|
rs144883479
|
0.00016
|
|
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)
|
rs147112322
|
0.00016
|
|
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)
|
rs201205904
|
0.00016
|
|
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)
|
rs140330831
|
0.00016
|
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
|
NM_000207.3(INS):c.188-96G>A
|
rs565314634
|
0.00016
|
|
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)
|
rs140452381
|
0.00016
|
|
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
rs104895175
|
0.00016
|
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
|
NM_000251.3(MSH2):c.1276+16G>A
|
rs368120695
|
0.00016
|
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
|
NM_000350.3(ABCA4):c.5312+8G>A
|
rs187953772
|
0.00016
|
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
|
NM_000384.3(APOB):c.6969T>A (p.Asn2323Lys)
|
rs138118085
|
0.00016
|
|
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)
|
rs145885540
|
0.00016
|
|
NM_000441.2(SLC26A4):c.1804-6G>A
|
rs377713770
|
0.00016
|
|
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)
|
rs193922546
|
0.00016
|
|
NM_000515.5(GH1):c.456+12G>A
|
rs61762498
|
0.00016
|
|
NM_000516.7(GNAS):c.530+10C>T
|
rs199499878
|
0.00016
|
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00016
|
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
|
NM_000548.5(TSC2):c.2356-15T>A
|
rs189674303
|
0.00016
|
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
|
NM_000918.4(P4HB):c.709G>A (p.Val237Ile)
|
rs145040305
|
0.00016
|
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
|
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=)
|
rs374619113
|
0.00016
|
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
|
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
|
rs144707485
|
0.00016
|
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
|
NM_001042472.3(ABHD12):c.787+3G>A
|
rs202150912
|
0.00016
|
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
|
NM_001098484.3(SLC4A4):c.633G>A (p.Lys211=)
|
rs145739451
|
0.00016
|
|
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)
|
rs201692401
|
0.00016
|
|
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)
|
rs373650093
|
0.00016
|
|
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp)
|
rs200463050
|
0.00016
|
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
|
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu)
|
rs766868824
|
0.00016
|
|
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu)
|
rs747301309
|
0.00016
|
|
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser)
|
rs543115615
|
0.00016
|
|
NM_001142864.4(PIEZO1):c.4891C>T (p.Arg1631Cys)
|
rs566969453
|
0.00016
|
|
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln)
|
rs773860217
|
0.00016
|
|
NM_001148.6(ANK2):c.11032+19A>G
|
rs200769962
|
0.00016
|
|
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val)
|
rs375646776
|
0.00016
|
|
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp)
|
rs200165006
|
0.00016
|
|
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)
|
rs375164626
|
0.00016
|
|
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys)
|
rs202044707
|
0.00016
|
|
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)
|
rs368217121
|
0.00016
|
|
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=)
|
rs145035963
|
0.00016
|
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00016
|
|
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr)
|
rs148776624
|
0.00016
|
|
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)
|
rs370300135
|
0.00016
|
|
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)
|
rs117551279
|
0.00016
|
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
|
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile)
|
rs371081043
|
0.00016
|
|
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)
|
rs72646877
|
0.00016
|
|
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)
|
rs373326137
|
0.00016
|
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
|
NM_001277115.2(DNAH11):c.12407G>A (p.Arg4136His)
|
rs372603233
|
0.00016
|
|
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)
|
rs201121146
|
0.00016
|
|
NM_001277115.2(DNAH11):c.2579C>T (p.Ala860Val)
|
rs200459876
|
0.00016
|
|
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu)
|
rs117803903
|
0.00016
|
|
NM_001277115.2(DNAH11):c.7295G>A (p.Arg2432Gln)
|
rs769003090
|
0.00016
|
|
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys)
|
rs374826188
|
0.00016
|
|
NM_001330360.2(POLA1):c.2348C>T (p.Ser783Phe)
|
rs367639262
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
|
NM_001457.4(FLNB):c.1868A>T (p.Asp623Val)
|
rs145314043
|
0.00016
|
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
|
NM_001458.5(FLNC):c.2686G>A (p.Gly896Arg)
|
rs200215903
|
0.00016
|
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
|
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)
|
rs144495959
|
0.00016
|
|
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=)
|
rs148648480
|
0.00016
|
|
NM_002386.4(MC1R):c.917G>A (p.Arg306His)
|
rs368507952
|
0.00016
|
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
|
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)
|
rs75783492
|
0.00016
|
|
NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys)
|
rs140867718
|
0.00016
|
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
|
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)
|
rs145650440
|
0.00016
|
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
|
NM_005458.8(GABBR2):c.1364C>A (p.Thr455Asn)
|
rs373607825
|
0.00016
|
|
NM_005518.4(HMGCS2):c.851-14G>A
|
rs188523700
|
0.00016
|
|
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met)
|
rs146462440
|
0.00016
|
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
|
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)
|
rs727504636
|
0.00016
|
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
|
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)
|
rs752204035
|
0.00016
|
|
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)
|
rs374303746
|
0.00016
|
|
NM_006915.3(RP2):c.30G>A (p.Lys10=)
|
rs782402689
|
0.00016
|
|
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu)
|
rs199975643
|
0.00016
|
|
NM_006946.4(SPTBN2):c.6385C>T (p.Arg2129Trp)
|
rs556784868
|
0.00016
|
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
|
NM_007294.4(BRCA1):c.81-65G>C
|
rs80358117
|
0.00016
|
|
NM_014000.3(VCL):c.1716T>G (p.Leu572=)
|
rs189781480
|
0.00016
|
|
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=)
|
rs117876038
|
0.00016
|
|
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=)
|
rs139249329
|
0.00016
|
|
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=)
|
rs370135619
|
0.00016
|
|
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg)
|
rs186429469
|
0.00016
|
|
NM_015338.6(ASXL1):c.3379G>A (p.Asp1127Asn)
|
rs201009558
|
0.00016
|
|
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln)
|
rs376802484
|
0.00016
|
|
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)
|
rs199666126
|
0.00016
|
|
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)
|
rs181927766
|
0.00016
|
|
NM_018475.5(TMEM165):c.351A>G (p.Ala117=)
|
rs747450377
|
0.00016
|
|
NM_020831.6(MRTFA):c.325G>A (p.Ala109Thr)
|
rs181447706
|
0.00016
|
|
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp)
|
rs771719773
|
0.00016
|
|
NM_022095.4(ZNF335):c.3843A>G (p.Pro1281=)
|
rs35291173
|
0.00016
|
|
NM_022455.5(NSD1):c.-8G>A
|
rs199639292
|
0.00016
|
|
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=)
|
rs61756006
|
0.00016
|
|
NM_024411.5(PDYN):c.268G>A (p.Gly90Arg)
|
rs201585283
|
0.00016
|
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
|
NM_030665.4(RAI1):c.2981G>A (p.Arg994Gln)
|
rs201996411
|
0.00016
|
|
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)
|
rs368106957
|
0.00016
|
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
|
NM_052867.4(NALCN):c.2307T>G (p.His769Gln)
|
rs147070169
|
0.00016
|
|
NM_052989.3(IFT122):c.1009-14C>T
|
rs202155515
|
0.00016
|
|
NM_080680.3(COL11A2):c.4863+7G>A
|
rs200947059
|
0.00016
|
|
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile)
|
rs150279202
|
0.00016
|
|
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)
|
rs199786696
|
0.00016
|
|
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=)
|
rs150376603
|
0.00016
|
|
NM_153741.2(DPM3):c.249C>A (p.Ala83=)
|
rs193215070
|
0.00016
|
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
|
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)
|
rs199635198
|
0.00016
|
|
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)
|
rs150514959
|
0.00016
|
|
NM_178170.3(NEK8):c.582C>T (p.Tyr194=)
|
rs201773965
|
0.00016
|
|
NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met)
|
rs4995611
|
0.00016
|
|
NM_182760.4(SUMF1):c.606G>A (p.Pro202=)
|
rs141957829
|
0.00016
|
|
NM_182894.3(VSX2):c.249G>A (p.Gly83=)
|
rs751526974
|
0.00016
|
|
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met)
|
rs373690979
|
0.00016
|
|
NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly)
|
rs35328937
|
0.00016
|
|
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)
|
rs782202249
|
0.00016
|
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
|
NM_000162.5(GCK):c.364-13G>A
|
rs372405219
|
0.00015
|
|
NM_000243.3(MEFV):c.1261-28A>G
|
rs104895140
|
0.00015
|
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
|
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)
|
rs368706722
|
0.00015
|
|
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr)
|
rs376688581
|
0.00015
|
|
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met)
|
rs201125580
|
0.00015
|
|
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)
|
rs143205855
|
0.00015
|
|
NM_000291.4(PGK1):c.241G>T (p.Val81Phe)
|
rs202138276
|
0.00015
|
|
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala)
|
rs148399096
|
0.00015
|
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00015
|
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
|
NM_000384.3(APOB):c.7577T>C (p.Met2526Thr)
|
rs373272476
|
0.00015
|
|
NM_000388.4(CASR):c.757C>A (p.Gln253Lys)
|
rs202179597
|
0.00015
|
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
|
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)
|
rs201284965
|
0.00015
|
|
NM_000540.3(RYR1):c.14304-10G>A
|
rs368201693
|
0.00015
|
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
|
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=)
|
rs55741021
|
0.00015
|
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
|
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)
|
rs375330016
|
0.00015
|
|
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala)
|
rs138497939
|
0.00015
|
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
|
NM_001114753.3(ENG):c.322C>T (p.His108Tyr)
|
rs756897517
|
0.00015
|
|
NM_001145809.2(MYH14):c.560A>G (p.Gln187Arg)
|
rs199583971
|
0.00015
|
|
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)
|
rs199584268
|
0.00015
|
|
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met)
|
rs374961597
|
0.00015
|
|
NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=)
|
rs767028461
|
0.00015
|
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
|
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)
|
rs72677240
|
0.00015
|
|
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)
|
rs397517772
|
0.00015
|
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
|
NM_001277115.2(DNAH11):c.2570G>A (p.Arg857Gln)
|
rs376572966
|
0.00015
|
|
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866
|
0.00015
|
|
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg)
|
rs368739905
|
0.00015
|
|
NM_001457.4(FLNB):c.5506G>A (p.Ala1836Thr)
|
rs199964133
|
0.00015
|
|
NM_001698.3(AUH):c.678C>T (p.Arg226=)
|
rs143768042
|
0.00015
|
|
NM_001761.3(CCNF):c.257G>A (p.Gly86Glu)
|
rs143974143
|
0.00015
|
|
NM_002317.7(LOX):c.308G>C (p.Arg103Pro)
|
rs200513395
|
0.00015
|
|
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)
|
rs201415443
|
0.00015
|
|
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=)
|
rs137955659
|
0.00015
|
|
NM_003919.3(SGCE):c.391A>G (p.Ile131Val)
|
rs370609227
|
0.00015
|
|
NM_003998.4(NFKB1):c.1004G>A (p.Arg335Gln)
|
rs143817570
|
0.00015
|
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
|
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)
|
rs142498771
|
0.00015
|
|
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser)
|
rs372069596
|
0.00015
|
|
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)
|
rs760663911
|
0.00015
|
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
|
NM_005546.4(ITK):c.495+12C>T
|
rs376728021
|
0.00015
|
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
|
NM_006361.6(HOXB13):c.6G>A (p.Glu2=)
|
rs371544984
|
0.00015
|
|
NM_014585.6(SLC40A1):c.1570G>A (p.Val524Ile)
|
rs142456282
|
0.00015
|
|
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=)
|
rs200617745
|
0.00015
|
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00015
|
|
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys)
|
rs546203218
|
0.00015
|
|
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly)
|
rs199953758
|
0.00015
|
|
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu)
|
rs148315164
|
0.00015
|
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
|
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile)
|
rs200202916
|
0.00015
|
|
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)
|
rs201165929
|
0.00015
|
|
NM_022356.4(P3H1):c.1721-4C>T
|
rs200901466
|
0.00015
|
|
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=)
|
rs200253126
|
0.00015
|
|
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg)
|
rs746952369
|
0.00015
|
|
NM_032415.7(CARD11):c.2735G>A (p.Arg912Gln)
|
rs368119340
|
0.00015
|
|
NM_033380.3(COL4A5):c.880C>T (p.Pro294Ser)
|
rs374201703
|
0.00015
|
|
NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly)
|
rs541264551
|
0.00015
|
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
|
NM_175053.4(KRT74):c.850G>A (p.Ala284Thr)
|
rs139463422
|
0.00015
|
|
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val)
|
rs199860789
|
0.00015
|
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00015
|
|
NM_194248.3(OTOF):c.446C>T (p.Thr149Met)
|
rs140454738
|
0.00015
|
|
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
|
rs143892373
|
0.00014
|
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
|
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
|
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln)
|
rs373540400
|
0.00014
|
|
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
|
rs200698961
|
0.00014
|
|
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
|
rs188695241
|
0.00014
|
|
NM_000143.4(FH):c.122C>T (p.Ala41Val)
|
rs201486221
|
0.00014
|
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
|
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)
|
rs149486847
|
0.00014
|
|
NM_000159.4(GCDH):c.1244-15A>G
|
rs201407990
|
0.00014
|
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
|
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)
|
rs112739451
|
0.00014
|
|
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=)
|
rs144735718
|
0.00014
|
|
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)
|
rs2228239
|
0.00014
|
|
NM_000249.4(MLH1):c.2001C>T (p.Asp667=)
|
rs63750014
|
0.00014
|
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
|
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His)
|
rs138154222
|
0.00014
|
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
|
NM_000321.3(RB1):c.-69G>C
|
rs753117180
|
0.00014
|
|
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
|
rs148720069
|
0.00014
|
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00014
|
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
|
NM_000384.3(APOB):c.6941T>C (p.Leu2314Pro)
|
rs372035579
|
0.00014
|
|
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)
|
rs143664472
|
0.00014
|
|
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)
|
rs780695627
|
0.00014
|
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
|
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=)
|
rs771306571
|
0.00014
|
|
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)
|
rs144465428
|
0.00014
|
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00014
|
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
|
NM_000834.5(GRIN2B):c.291G>A (p.Val97=)
|
rs202223470
|
0.00014
|
|
NM_001005242.3(PKP2):c.1379-2066C>T
|
rs373399921
|
0.00014
|
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
|
NM_001042545.2(LTBP4):c.4411G>A (p.Gly1471Arg)
|
rs375100061
|
0.00014
|
|
NM_001083116.3(PRF1):c.630C>T (p.Pro210=)
|
rs144004164
|
0.00014
|
|
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser)
|
rs373039171
|
0.00014
|
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
|
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg)
|
rs375094936
|
0.00014
|
|
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln)
|
rs374608155
|
0.00014
|
|
NM_001130438.3(SPTAN1):c.7161-8G>A
|
rs202180736
|
0.00014
|
|
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)
|
rs140002194
|
0.00014
|
|
NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu)
|
rs373706590
|
0.00014
|
|
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr)
|
rs757753448
|
0.00014
|
|
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala)
|
rs868678918
|
0.00014
|
|
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val)
|
rs369957704
|
0.00014
|
|
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser)
|
rs376194864
|
0.00014
|
|
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu)
|
rs202211102
|
0.00014
|
|
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met)
|
rs370810654
|
0.00014
|
|
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn)
|
rs562175196
|
0.00014
|
|
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)
|
rs35194393
|
0.00014
|
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
|
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)
|
rs375625664
|
0.00014
|
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
|
NM_001267550.2(TTN):c.21962-6C>T
|
rs374870814
|
0.00014
|
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
|
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)
|
rs373429851
|
0.00014
|
|
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=)
|
rs372382546
|
0.00014
|
|
NM_001267550.2(TTN):c.44282-6G>A
|
rs372166634
|
0.00014
|
|
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)
|
rs563969986
|
0.00014
|
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
|
NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp)
|
rs370878348
|
0.00014
|
|
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)
|
rs202224167
|
0.00014
|
|
NM_001289125.3(IFNAR2):c.505G>A (p.Val169Ile)
|
rs140533677
|
0.00014
|
|
NM_001330311.2(DVL1):c.1777C>T (p.Arg593Trp)
|
rs372681220
|
0.00014
|
|
NM_001347721.2(DYRK1A):c.1649G>A (p.Arg550His)
|
rs144190333
|
0.00014
|
|
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn)
|
rs774296730
|
0.00014
|
|
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val)
|
rs149338478
|
0.00014
|
|
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=)
|
rs201803908
|
0.00014
|
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
0.00014
|
|
NM_001457.4(FLNB):c.1290C>G (p.Ile430Met)
|
rs147854989
|
0.00014
|
|
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)
|
rs55851925
|
0.00014
|
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
|
NM_002049.4(GATA1):c.1045G>A (p.Val349Met)
|
rs199710067
|
0.00014
|
|
NM_002291.3(LAMB1):c.3481C>T (p.Arg1161Cys)
|
rs146018013
|
0.00014
|
|
NM_002472.3(MYH8):c.5293-1G>A
|
rs144785726
|
0.00014
|
|
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)
|
rs141440715
|
0.00014
|
|
NM_002474.3(MYH11):c.1017C>T (p.Ser339=)
|
rs112161189
|
0.00014
|
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
|
NM_002693.3(POLG):c.2157+11C>T
|
rs56411159
|
0.00014
|
|
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)
|
rs2307440
|
0.00014
|
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
|
NM_003465.3(CHIT1):c.1139C>T (p.Thr380Met)
|
rs374021722
|
0.00014
|
|
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=)
|
rs369436545
|
0.00014
|
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
|
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)
|
rs151150099
|
0.00014
|
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
|
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=)
|
rs774049893
|
0.00014
|
|
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys)
|
rs373917399
|
0.00014
|
|
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)
|
rs146977269
|
0.00014
|
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
|
NM_004415.4(DSP):c.1534A>G (p.Ile512Val)
|
rs202025438
|
0.00014
|
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
|
NM_004595.5(SMS):c.661-5C>T
|
rs371972467
|
0.00014
|
|
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile)
|
rs201952240
|
0.00014
|
|
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)
|
rs77447750
|
0.00014
|
|
NM_006015.6(ARID1A):c.110G>A (p.Gly37Asp)
|
rs933617964
|
0.00014
|
|
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val)
|
rs201185279
|
0.00014
|
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
|
NM_006506.5(RASA2):c.38C>T (p.Ser13Phe)
|
rs376313232
|
0.00014
|
|
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu)
|
rs199685739
|
0.00014
|
|
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val)
|
rs201583296
|
0.00014
|
|
NM_013447.4(ADGRE2):c.1492del (p.Thr498fs)
|
rs771415140
|
0.00014
|
|
NM_013447.4(ADGRE2):c.355G>C (p.Asp119His)
|
rs751263352
|
0.00014
|
|
NM_014141.6(CNTNAP2):c.3741A>C (p.Pro1247=)
|
rs141772824
|
0.00014
|
|
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro)
|
rs147837803
|
0.00014
|
|
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser)
|
rs200385766
|
0.00014
|
|
NM_015215.4(CAMTA1):c.2302T>C (p.Ser768Pro)
|
rs201459076
|
0.00014
|
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
|
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn)
|
rs137873272
|
0.00014
|
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
|
NM_017780.4(CHD7):c.1326C>A (p.Ala442=)
|
rs370097651
|
0.00014
|
|
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala)
|
rs58729661
|
0.00014
|
|
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)
|
rs147097934
|
0.00014
|
|
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys)
|
rs747605326
|
0.00014
|
|
NM_020937.4(FANCM):c.30G>A (p.Gln10=)
|
rs145745979
|
0.00014
|
|
NM_020987.5(ANK3):c.11159C>T (p.Thr3720Met)
|
rs201547988
|
0.00014
|
|
NM_022114.4(PRDM16):c.1187-10G>C
|
rs201517837
|
0.00014
|
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
0.00014
|
|
NM_022124.6(CDH23):c.7362+14G>A
|
rs78158757
|
0.00014
|
|
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr)
|
rs369142200
|
0.00014
|
|
NM_024513.4(FYCO1):c.546G>A (p.Thr182=)
|
rs201372127
|
0.00014
|
|
NM_024513.4(FYCO1):c.678C>T (p.Asn226=)
|
rs140730556
|
0.00014
|
|
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)
|
rs146711478
|
0.00014
|
|
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=)
|
rs145579121
|
0.00014
|
|
NM_025193.4(HSD3B7):c.714C>T (p.His238=)
|
rs147510106
|
0.00014
|
|
NM_030662.3(MAP2K2):c.*8C>T
|
rs377675706
|
0.00014
|
|
NM_030665.4(RAI1):c.1837G>A (p.Gly613Arg)
|
rs200955853
|
0.00014
|
|
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn)
|
rs147844401
|
0.00014
|
|
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr)
|
rs201220208
|
0.00014
|
|
NM_033380.3(COL4A5):c.858T>C (p.Gly286=)
|
rs183837448
|
0.00014
|
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
|
NM_053025.4(MYLK):c.207C>T (p.Asn69=)
|
rs376457425
|
0.00014
|
|
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)
|
rs371602931
|
0.00014
|
|
NM_080425.4(GNAS):c.1524C>T (p.Ala508=)
|
rs111796234
|
0.00014
|
|
NM_139027.6(ADAMTS13):c.539+7G>A
|
rs184864675
|
0.00014
|
|
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)
|
rs200660337
|
0.00014
|
|
NM_145331.3(MAP3K7):c.26C>T (p.Ser9Phe)
|
rs139666795
|
0.00014
|
|
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu)
|
rs202226215
|
0.00014
|
|
NM_170606.3(KMT2C):c.5792C>T (p.Ser1931Leu)
|
rs200297010
|
0.00014
|
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
|
NM_173076.3(ABCA12):c.627A>C (p.Lys209Asn)
|
rs149882663
|
0.00014
|
|
NM_174936.4(PCSK9):c.1773C>G (p.His591Gln)
|
rs529912877
|
0.00014
|
|
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)
|
rs151193009
|
0.00014
|
|
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)
|
rs200909650
|
0.00014
|
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
|
NM_194277.3(FRMD7):c.1531A>G (p.Ile511Val)
|
rs199717232
|
0.00014
|
|
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)
|
rs114846212
|
0.00014
|
|
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)
|
rs202218948
|
0.00014
|
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
|
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)
|
rs140331348
|
0.00014
|
|
NM_000026.4(ADSL):c.735A>T (p.Arg245=)
|
rs143977255
|
0.00013
|
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
|
NM_000053.4(ATP7B):c.813C>T (p.Cys271=)
|
rs572147914
|
0.00013
|
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
|
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys)
|
rs138364213
|
0.00013
|
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
|
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser)
|
rs201255245
|
0.00013
|
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
|
NM_000091.5(COL4A3):c.688-8G>T
|
rs748843785
|
0.00013
|
|
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln)
|
rs201722048
|
0.00013
|
|
NM_000155.4(GALT):c.507+12C>T
|
rs199572263
|
0.00013
|
|
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
|
rs193922276
|
0.00013
|
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
|
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)
|
rs145666157
|
0.00013
|
|
NM_000307.5(POU3F4):c.506C>T (p.Pro169Leu)
|
rs200696740
|
0.00013
|
|
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)
|
rs142954164
|
0.00013
|
|
NM_000384.3(APOB):c.1010T>A (p.Ile337Asn)
|
rs148126873
|
0.00013
|
|
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr)
|
rs374767079
|
0.00013
|
|
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)
|
rs372241697
|
0.00013
|
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00013
|
|
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)
|
rs555292896
|
0.00013
|
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
|
NM_000540.3(RYR1):c.8311-4C>T
|
rs575528695
|
0.00013
|
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
|
NM_000545.8(HNF1A):c.-96T>G
|
rs576862555
|
0.00013
|
|
NM_000687.4(AHCY):c.918C>T (p.Ile306=)
|
rs146829385
|
0.00013
|
|
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)
|
rs373799322
|
0.00013
|
|
NM_001031679.3(MSRB3):c.-67G>C
|
rs368104588
|
0.00013
|
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
|
NM_001039591.3(USP9X):c.6360A>G (p.Ile2120Met)
|
rs201128029
|
0.00013
|
|
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)
|
rs77473319
|
0.00013
|
|
NM_001042545.2(LTBP4):c.3050G>A (p.Arg1017Gln)
|
rs376010452
|
0.00013
|
|
NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser)
|
rs761479779
|
0.00013
|
|
NM_001085049.3(MRAS):c.488A>G (p.Asn163Ser)
|
rs536326964
|
0.00013
|
|
NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln)
|
rs372946517
|
0.00013
|
|
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)
|
rs587778028
|
0.00013
|
|
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)
|
rs146601335
|
0.00013
|
|
NM_001130987.2(DYSF):c.127G>A (p.Val43Met)
|
rs374203339
|
0.00013
|
|
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)
|
rs373772212
|
0.00013
|
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
|
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)
|
rs199549660
|
0.00013
|
|
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu)
|
rs373133009
|
0.00013
|
|
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)
|
rs200146632
|
0.00013
|
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
|
NM_001277115.2(DNAH11):c.5993G>A (p.Gly1998Asp)
|
rs369704964
|
0.00013
|
|
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)
|
rs75000411
|
0.00013
|
|
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn)
|
rs374771308
|
0.00013
|
|
NM_001367624.2(ZNF469):c.11033G>A (p.Ser3678Asn)
|
rs781084356
|
0.00013
|
|
NM_001369.3(DNAH5):c.2891A>T (p.His964Leu)
|
rs199698421
|
0.00013
|
|
NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala)
|
rs1044746171
|
0.00013
|
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
|
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)
|
rs145861489
|
0.00013
|
|
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn)
|
rs558814304
|
0.00013
|
|
NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro)
|
rs370534700
|
0.00013
|
|
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=)
|
rs141355337
|
0.00013
|
|
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)
|
rs374922166
|
0.00013
|
|
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser)
|
rs140662138
|
0.00013
|
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
|
NM_003465.3(CHIT1):c.988C>G (p.Gln330Glu)
|
rs372939622
|
0.00013
|
|
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)
|
rs747626591
|
0.00013
|
|
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)
|
rs144103124
|
0.00013
|
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
|
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr)
|
rs200243548
|
0.00013
|
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
|
NM_005045.4(RELN):c.1708C>G (p.His570Asp)
|
rs374546580
|
0.00013
|
|
NM_005188.4(CBL):c.-5A>G
|
rs552214111
|
0.00013
|
|
NM_005428.4(VAV1):c.724-11C>T
|
rs367963535
|
0.00013
|
|
NM_005633.4(SOS1):c.1668A>C (p.Val556=)
|
rs376314461
|
0.00013
|
|
NM_005634.3(SOX3):c.310G>A (p.Gly104Arg)
|
rs780905183
|
0.00013
|
|
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)
|
rs749401561
|
0.00013
|
|
NM_006269.2(RP1):c.4299A>G (p.Ala1433=)
|
rs148918111
|
0.00013
|
|
NM_006790.3(MYOT):c.342C>T (p.Ser114=)
|
rs34593399
|
0.00013
|
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
|
NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr)
|
rs181583071
|
0.00013
|
|
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
|
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
|
rs41293451
|
0.00013
|
|
NM_014141.6(CNTNAP2):c.1777+7G>A
|
rs770951811
|
0.00013
|
|
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
|
NM_014967.5(FAN1):c.1090A>C (p.Asn364His)
|
rs187082481
|
0.00013
|
|
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)
|
rs61735488
|
0.00013
|
|
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)
|
rs374354239
|
0.00013
|
|
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
0.00013
|
|
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)
|
rs369067940
|
0.00013
|
|
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)
|
rs1397523469
|
0.00013
|
|
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)
|
rs376104770
|
0.00013
|
|
NM_017777.4(MKS1):c.1128G>A (p.Thr376=)
|
rs369141016
|
0.00013
|
|
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)
|
rs527295360
|
0.00013
|
|
NM_020699.4(GATAD2B):c.544C>T (p.Leu182=)
|
rs368676576
|
0.00013
|
|
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)
|
rs368828743
|
0.00013
|
|
NM_022367.4(SEMA4A):c.1694-13C>G
|
rs144540956
|
0.00013
|
|
NM_022829.6(SLC13A3):c.292A>T (p.Ile98Phe)
|
rs201443231
|
0.00013
|
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
|
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala)
|
rs373201722
|
0.00013
|
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
|
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp)
|
rs368995503
|
0.00013
|
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
|
NM_033163.5(FGF8):c.686C>T (p.Thr229Met)
|
rs137852664
|
0.00013
|
|
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser)
|
rs754836509
|
0.00013
|
|
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)
|
rs727504460
|
0.00013
|
|
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln)
|
rs371674362
|
0.00013
|
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
|
NM_133379.5(TTN):c.15768T>A (p.His5256Gln)
|
rs138826545
|
0.00013
|
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
0.00013
|
|
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val)
|
rs2697798
|
0.00013
|
|
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)
|
rs576577339
|
0.00013
|
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00013
|
|
NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg)
|
rs201538331
|
0.00013
|
|
NM_203475.3(PORCN):c.288C>T (p.Gly96=)
|
rs200263603
|
0.00013
|
|
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=)
|
rs368327746
|
0.00013
|
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
|
NM_000038.6(APC):c.2204C>T (p.Ala735Val)
|
rs147655929
|
0.00012
|
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
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_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
|
NM_000081.4(LYST):c.2517T>C (p.Ile839=)
|
rs78172154
|
0.00012
|
|
NM_000094.4(COL7A1):c.5986A>G (p.Ile1996Val)
|
rs771271966
|
0.00012
|
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
|
NM_000135.4(FANCA):c.4261-9C>G
|
rs368506826
|
0.00012
|
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
|
NM_000246.4(CIITA):c.772+8C>T
|
rs557455283
|
0.00012
|
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
|
NM_000293.3(PHKB):c.1350C>T (p.Ile450=)
|
rs199941695
|
0.00012
|
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
|
NM_000384.3(APOB):c.5434G>T (p.Gly1812Trp)
|
rs140174653
|
0.00012
|
|
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)
|
rs139824017
|
0.00012
|
|
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)
|
rs193922545
|
0.00012
|
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
|
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His)
|
rs142848358
|
0.00012
|
|
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)
|
rs200231105
|
0.00012
|
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
|
NM_001005242.3(PKP2):c.306C>A (p.Ser102=)
|
rs376613662
|
0.00012
|
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
|
NM_001109878.2(TBX22):c.780G>A (p.Thr260=)
|
rs373817537
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
|
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His)
|
rs80337021
|
0.00012
|
|
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys)
|
rs552562531
|
0.00012
|
|
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln)
|
rs372804439
|
0.00012
|
|
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)
|
rs886038447
|
0.00012
|
|
NM_001164508.2(NEB):c.853A>G (p.Ile285Val)
|
rs773114380
|
0.00012
|
|
NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln)
|
rs201593863
|
0.00012
|
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
|
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)
|
rs371495674
|
0.00012
|
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
|
NM_001267550.2(TTN):c.56850G>A (p.Val18950=)
|
rs368068200
|
0.00012
|
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
|
NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly)
|
rs370436662
|
0.00012
|
|
NM_001277115.2(DNAH11):c.3545G>A (p.Arg1182Gln)
|
rs368316519
|
0.00012
|
|
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu)
|
rs200815347
|
0.00012
|
|
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro)
|
rs202145169
|
0.00012
|
|
NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro)
|
rs762898505
|
0.00012
|
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
|
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)
|
rs763198301
|
0.00012
|
|
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His)
|
rs140975593
|
0.00012
|
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
|
NM_001844.5(COL2A1):c.2382T>A (p.Pro794=)
|
rs373352689
|
0.00012
|
|
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=)
|
rs41272767
|
0.00012
|
|
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His)
|
rs200192119
|
0.00012
|
|
NM_001854.4(COL11A1):c.1504G>T (p.Asp502Tyr)
|
rs1212773301
|
0.00012
|
|
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)
|
rs369925361
|
0.00012
|
|
NM_002282.3(KRT83):c.790G>A (p.Val264Met)
|
rs201459857
|
0.00012
|
|
NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser)
|
rs150084635
|
0.00012
|
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
|
NM_002979.5(SCP2):c.1469-10T>C
|
rs761545816
|
0.00012
|
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
|
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
|
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys)
|
rs201186216
|
0.00012
|
|
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)
|
rs72466581
|
0.00012
|
|
NM_004006.3(DMD):c.9033G>A (p.Pro3011=)
|
rs774722438
|
0.00012
|
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
|
NM_004035.7(ACOX1):c.1584+11G>A
|
rs185329691
|
0.00012
|
|
NM_004239.4(TRIP11):c.183T>C (p.His61=)
|
rs138904373
|
0.00012
|
|
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu)
|
rs397516907
|
0.00012
|
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
|
NM_004415.4(DSP):c.2134G>A (p.Val712Met)
|
rs397516922
|
0.00012
|
|
NM_004456.5(EZH2):c.1884C>G (p.Gly628=)
|
rs61732846
|
0.00012
|
|
NM_005045.4(RELN):c.7268G>A (p.Arg2423His)
|
rs140660860
|
0.00012
|
|
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)
|
rs531754497
|
0.00012
|
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
|
NM_005431.2(XRCC2):c.354G>A (p.Val118=)
|
rs558977371
|
0.00012
|
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00012
|
|
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)
|
rs376076241
|
0.00012
|
|
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg)
|
rs765282250
|
0.00012
|
|
NM_006946.4(SPTBN2):c.4959C>T (p.Asp1653=)
|
rs572061488
|
0.00012
|
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
|
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)
|
rs80357024
|
0.00012
|
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
|
NM_012092.4(ICOS):c.591G>A (p.Val197=)
|
rs55655222
|
0.00012
|
|
NM_014000.3(VCL):c.378C>T (p.Phe126=)
|
rs148966602
|
0.00012
|
|
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)
|
rs147693839
|
0.00012
|
|
NM_015178.3(RHOBTB2):c.802G>A (p.Val268Ile)
|
rs140190863
|
0.00012
|
|
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
|
rs200088377
|
0.00012
|
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00012
|
|
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)
|
rs377723386
|
0.00012
|
|
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys)
|
rs376607278
|
0.00012
|
|
NM_033380.3(COL4A5):c.319C>T (p.Pro107Ser)
|
rs182634806
|
0.00012
|
|
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=)
|
rs549704545
|
0.00012
|
|
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser)
|
rs141164483
|
0.00012
|
|
NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu)
|
rs150784358
|
0.00012
|
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
|
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)
|
rs200730851
|
0.00012
|
|
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln)
|
rs201596732
|
0.00012
|
|
NM_145239.3(PRRT2):c.1013-29C>T
|
rs745834081
|
0.00012
|
|
NM_153427.3(PITX2):c.-79G>A
|
rs535056127
|
0.00012
|
|
NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg)
|
rs148323208
|
0.00012
|
|
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys)
|
rs201427580
|
0.00012
|
|
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu)
|
rs375497206
|
0.00012
|
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00012
|
|
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)
|
rs201278290
|
0.00012
|
|
NM_000018.4(ACADVL):c.622+12C>A
|
rs374633807
|
0.00011
|
|
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=)
|
rs762382303
|
0.00011
|
|
NM_000038.6(APC):c.277C>G (p.Leu93Val)
|
rs201567345
|
0.00011
|
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
|
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)
|
rs201770808
|
0.00011
|
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
|
NM_000059.4(BRCA2):c.8633-26A>G
|
rs56268579
|
0.00011
|
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
|
NM_000062.3(SERPING1):c.798G>A (p.Val266=)
|
rs375950989
|
0.00011
|
|
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val)
|
rs148770452
|
0.00011
|
|
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala)
|
rs369192794
|
0.00011
|
|
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=)
|
rs146619460
|
0.00011
|
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
|
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln)
|
rs200590188
|
0.00011
|
|
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=)
|
rs146176718
|
0.00011
|
|
NM_000095.3(COMP):c.412C>G (p.Pro138Ala)
|
rs763966726
|
0.00011
|
|
NM_000096.4(CP):c.3006C>T (p.Ser1002=)
|
rs199877380
|
0.00011
|
|
NM_000098.3(CPT2):c.45G>T (p.Ala15=)
|
rs761850684
|
0.00011
|
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
|
NM_000162.5(GCK):c.666C>T (p.Val222=)
|
rs193922318
|
0.00011
|
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
|
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr)
|
rs150811951
|
0.00011
|
|
NM_000249.4(MLH1):c.19G>T (p.Val7Phe)
|
rs730881746
|
0.00011
|
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
|
NM_000251.3(MSH2):c.1387-4G>C
|
rs376796243
|
0.00011
|
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
|
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)
|
rs63750843
|
0.00011
|
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
|
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)
|
rs587783806
|
0.00011
|
|
NM_000266.4(NDP):c.11A>T (p.His4Leu)
|
rs149708528
|
0.00011
|
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
|
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)
|
rs372019457
|
0.00011
|
|
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
|
rs33918436
|
0.00011
|
|
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met)
|
rs150316347
|
0.00011
|
|
NM_000352.6(ABCC8):c.4119+15C>T
|
rs58368439
|
0.00011
|
|
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)
|
rs199755731
|
0.00011
|
|
NM_000384.3(APOB):c.7006G>A (p.Ala2336Thr)
|
rs146888928
|
0.00011
|
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
|
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu)
|
rs574125890
|
0.00011
|
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
|
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala)
|
rs761749382
|
0.00011
|
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
|
NM_000527.5(LDLR):c.2389+8C>T
|
rs747170426
|
0.00011
|
|
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)
|
rs67939655
|
0.00011
|
|
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe)
|
rs45478595
|
0.00011
|
|
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596
|
0.00011
|
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
|
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
|
rs141035459
|
0.00011
|
|
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=)
|
rs3748278
|
0.00011
|
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
|
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548
|
0.00011
|
|
NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)
|
rs375151459
|
0.00011
|
|
NM_001008537.3(NEXMIF):c.3402C>A (p.His1134Gln)
|
rs138632224
|
0.00011
|
|
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val)
|
rs201647225
|
0.00011
|
|
NM_001035.3(RYR2):c.14808+3A>G
|
rs377491955
|
0.00011
|
|
NM_001035.3(RYR2):c.6793-3C>T
|
rs372314209
|
0.00011
|
|
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)
|
rs371088367
|
0.00011
|
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
|
NM_001100913.3(PACS2):c.1197T>G (p.Asp399Glu)
|
rs199748488
|
0.00011
|
|
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser)
|
rs377071831
|
0.00011
|
|
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)
|
rs151038616
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
|
NM_001127644.2(GABRA1):c.-252T>C
|
rs766490931
|
0.00011
|
|
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)
|
rs371609233
|
0.00011
|
|
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln)
|
rs143785916
|
0.00011
|
|
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile)
|
rs183770014
|
0.00011
|
|
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile)
|
rs200585609
|
0.00011
|
|
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val)
|
rs201529683
|
0.00011
|
|
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn)
|
rs201337732
|
0.00011
|
|
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His)
|
rs377443184
|
0.00011
|
|
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)
|
rs373551215
|
0.00011
|
|
NM_001164508.2(NEB):c.5554A>G (p.Met1852Val)
|
rs370172690
|
0.00011
|
|
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)
|
rs201758329
|
0.00011
|
|
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=)
|
rs761103593
|
0.00011
|
|
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)
|
rs587780850
|
0.00011
|
|
NM_001195248.2(APTX):c.762G>A (p.Pro254=)
|
rs571475924
|
0.00011
|
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
|
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr)
|
rs112266780
|
0.00011
|
|
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)
|
rs367821526
|
0.00011
|
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
|
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)
|
rs201095164
|
0.00011
|
|
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=)
|
rs189790119
|
0.00011
|
|
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys)
|
rs185887755
|
0.00011
|
|
NM_001267550.2(TTN):c.97193-16T>G
|
rs371317486
|
0.00011
|
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
|
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)
|
rs200544701
|
0.00011
|
|
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)
|
rs374295768
|
0.00011
|
|
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln)
|
rs201628571
|
0.00011
|
|
NM_001277115.2(DNAH11):c.10637C>T (p.Thr3546Met)
|
rs374549012
|
0.00011
|
|
NM_001277115.2(DNAH11):c.11714G>C (p.Gly3905Ala)
|
rs767288107
|
0.00011
|
|
NM_001277115.2(DNAH11):c.1232G>A (p.Gly411Glu)
|
rs552249954
|
0.00011
|
|
NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile)
|
rs186358036
|
0.00011
|
|
NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln)
|
rs372325290
|
0.00011
|
|
NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val)
|
rs373365959
|
0.00011
|
|
NM_001277115.2(DNAH11):c.6029A>G (p.Lys2010Arg)
|
rs183609678
|
0.00011
|
|
NM_001277115.2(DNAH11):c.6118C>T (p.Arg2040Cys)
|
rs199772877
|
0.00011
|
|
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr)
|
rs200039720
|
0.00011
|
|
NM_001323289.2(CDKL5):c.283-13A>G
|
rs587783404
|
0.00011
|
|
NM_001355436.2(SPTB):c.3103C>T (p.Arg1035Trp)
|
rs143827332
|
0.00011
|
|
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)
|
rs200876438
|
0.00011
|
|
NM_001369.3(DNAH5):c.11492C>G (p.Thr3831Ser)
|
rs111313832
|
0.00011
|
|
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)
|
rs749126116
|
0.00011
|
|
NM_001369.3(DNAH5):c.360T>C (p.Asp120=)
|
rs368412855
|
0.00011
|
|
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)
|
rs141679530
|
0.00011
|
|
NM_001372.4(DNAH9):c.10853C>T (p.Thr3618Met)
|
rs201246193
|
0.00011
|
|
NM_001375524.1(TRRAP):c.11191G>A (p.Ala3731Thr)
|
rs199541716
|
0.00011
|
|
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)
|
rs774784126
|
0.00011
|
|
NM_001378778.1(MPDZ):c.1051C>T (p.Leu351Phe)
|
rs3739757
|
0.00011
|
|
NM_001457.4(FLNB):c.3476C>T (p.Ser1159Leu)
|
rs201254275
|
0.00011
|
|
NM_001558.4(IL10RA):c.931T>C (p.Leu311=)
|
rs148808529
|
0.00011
|
|
NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu)
|
rs371974287
|
0.00011
|
|
NM_001852.4(COL9A2):c.2036G>A (p.Arg679His)
|
rs199897562
|
0.00011
|
|
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu)
|
rs199653123
|
0.00011
|
|
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln)
|
rs142523692
|
0.00011
|
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
|
NM_001953.5(TYMP):c.*10G>A
|
rs369012029
|
0.00011
|
|
NM_001953.5(TYMP):c.*3C>T
|
rs372620403
|
0.00011
|
|
NM_002230.4(JUP):c.352G>A (p.Glu118Lys)
|
rs149004293
|
0.00011
|
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
|
NM_002474.3(MYH11):c.4095C>T (p.His1365=)
|
rs374454281
|
0.00011
|
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
|
NM_002693.3(POLG):c.87C>T (p.Ser29=)
|
rs587781116
|
0.00011
|
|
NM_003036.4(SKI):c.1329C>T (p.Pro443=)
|
rs150033567
|
0.00011
|
|
NM_003465.3(CHIT1):c.1326G>A (p.Ala442=)
|
rs186594769
|
0.00011
|
|
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)
|
rs199593058
|
0.00011
|
|
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met)
|
rs376888531
|
0.00011
|
|
NM_003722.5(TP63):c.1814G>A (p.Arg605Gln)
|
rs142981128
|
0.00011
|
|
NM_003737.4(DCHS1):c.6180G>A (p.Gly2060=)
|
rs145160213
|
0.00011
|
|
NM_004064.5(CDKN1B):c.281C>T (p.Pro94Leu)
|
rs757917082
|
0.00011
|
|
NM_004172.5(SLC1A3):c.279G>A (p.Gln93=)
|
rs375527461
|
0.00011
|
|
NM_004304.5(ALK):c.3599C>T (p.Ala1200Val)
|
rs200585833
|
0.00011
|
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
|
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)
|
rs201749138
|
0.00011
|
|
NM_004385.5(VCAN):c.5489C>T (p.Ser1830Phe)
|
rs141725839
|
0.00011
|
|
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met)
|
rs200490325
|
0.00011
|
|
NM_004667.6(HERC2):c.815C>T (p.Thr272Met)
|
rs201979656
|
0.00011
|
|
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)
|
rs80358273
|
0.00011
|
|
NM_004795.4(KL):c.450C>A (p.Ser150=)
|
rs764992732
|
0.00011
|
|
NM_004933.3(CDH15):c.131G>A (p.Arg44Gln)
|
rs199879102
|
0.00011
|
|
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)
|
rs761806977
|
0.00011
|
|
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln)
|
rs116463039
|
0.00011
|
|
NM_005188.4(CBL):c.2360G>A (p.Arg787His)
|
rs200220863
|
0.00011
|
|
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=)
|
rs749785521
|
0.00011
|
|
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
|
rs868950793
|
0.00011
|
|
NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr)
|
rs147302252
|
0.00011
|
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
|
NM_006757.4(TNNT3):c.429G>A (p.Lys143=)
|
rs184687090
|
0.00011
|
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
|
NM_006949.4(STXBP2):c.1356+13C>T
|
rs544312114
|
0.00011
|
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00011
|
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
|
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu)
|
rs140222626
|
0.00011
|
|
NM_014271.4(IL1RAPL1):c.651A>C (p.Glu217Asp)
|
rs775759727
|
0.00011
|
|
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)
|
rs776156836
|
0.00011
|
|
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)
|
rs143961484
|
0.00011
|
|
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)
|
rs200810800
|
0.00011
|
|
NM_014714.4(IFT140):c.3874-10A>C
|
rs761503137
|
0.00011
|
|
NM_015559.3(SETBP1):c.3956T>C (p.Met1319Thr)
|
rs372615623
|
0.00011
|
|
NM_016169.4(SUFU):c.1245C>T (p.Gly415=)
|
rs144158469
|
0.00011
|
|
NM_016816.4(OAS1):c.602G>A (p.Arg201His)
|
rs140799151
|
0.00011
|
|
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)
|
rs763988265
|
0.00011
|
|
NM_017636.4(TRPM4):c.2954-11T>C
|
rs774806552
|
0.00011
|
|
NM_018136.5(ASPM):c.9085-3T>C
|
rs201188381
|
0.00011
|
|
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)
|
rs563858170
|
0.00011
|
|
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)
|
rs142913613
|
0.00011
|
|
NM_018714.3(COG1):c.2619+11T>A
|
rs144115463
|
0.00011
|
|
NM_020717.5(SHROOM4):c.437G>A (p.Arg146Gln)
|
rs199603614
|
0.00011
|
|
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys)
|
rs56930579
|
0.00011
|
|
NM_022437.3(ABCG8):c.1212-7T>A
|
rs759300542
|
0.00011
|
|
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)
|
rs374424323
|
0.00011
|
|
NM_024105.4(ALG12):c.189C>T (p.Val63=)
|
rs190345740
|
0.00011
|
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
|
NM_030665.4(RAI1):c.1580G>A (p.Arg527His)
|
rs377314203
|
0.00011
|
|
NM_030912.3(TRIM8):c.1456C>G (p.Pro486Ala)
|
rs552806334
|
0.00011
|
|
NM_031443.4(CCM2):c.568G>A (p.Val190Met)
|
rs200358025
|
0.00011
|
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
0.00011
|
|
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)
|
rs200241260
|
0.00011
|
|
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr)
|
rs143717863
|
0.00011
|
|
NM_058216.3(RAD51C):c.*25C>G
|
rs28363336
|
0.00011
|
|
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)
|
rs201179101
|
0.00011
|
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
|
NM_153033.5(KCTD7):c.621C>A (p.Leu207=)
|
rs376944331
|
0.00011
|
|
NM_170606.3(KMT2C):c.4744G>A (p.Gly1582Arg)
|
rs145484802
|
0.00011
|
|
NM_172107.4(KCNQ2):c.1301+7C>T
|
rs374877247
|
0.00011
|
|
NM_173495.3(PTCHD1):c.1767G>A (p.Glu589=)
|
rs139310513
|
0.00011
|
|
NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln)
|
rs148791608
|
0.00011
|
|
NM_201384.3(PLEC):c.2064G>A (p.Pro688=)
|
rs374590279
|
0.00011
|
|
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)
|
rs138879998
|
0.00011
|
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
|
NM_000059.4(BRCA2):c.8633-16C>G
|
rs81002818
|
0.00010
|
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
|
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu)
|
rs140403507
|
0.00010
|
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
|
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=)
|
rs373452460
|
0.00010
|
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
|
NM_000260.4(MYO7A):c.617G>A (p.Arg206His)
|
rs781998354
|
0.00010
|
|
NM_000303.3(PMM2):c.441C>T (p.Leu147=)
|
rs146990448
|
0.00010
|
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
|
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)
|
rs570745701
|
0.00010
|
|
NM_000352.6(ABCC8):c.723C>T (p.His241=)
|
rs147276708
|
0.00010
|
|
NM_000381.4(MID1):c.229G>A (p.Val77Ile)
|
rs143416243
|
0.00010
|
|
NM_000384.3(APOB):c.1316G>A (p.Arg439Gln)
|
rs61742990
|
0.00010
|
|
NM_000388.4(CASR):c.740C>T (p.Ser247Phe)
|
rs200382161
|
0.00010
|
|
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala)
|
rs139843107
|
0.00010
|
|
NM_000489.6(ATRX):c.831C>T (p.Val277=)
|
rs142561199
|
0.00010
|
|
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro)
|
rs565971160
|
0.00010
|
|
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)
|
rs199606152
|
0.00010
|
|
NM_000719.7(CACNA1C):c.4624-8G>A
|
rs529345041
|
0.00010
|
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
|
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)
|
rs557813179
|
0.00010
|
|
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)
|
rs373261115
|
0.00010
|
|
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)
|
rs149534277
|
0.00010
|
|
NM_001042492.3(NF1):c.2178G>C (p.Val726=)
|
rs369590240
|
0.00010
|
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
|
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu)
|
rs782439813
|
0.00010
|
|
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln)
|
rs752372837
|
0.00010
|
|
NM_001148.6(ANK2):c.11230A>C (p.Thr3744Pro)
|
rs372212045
|
0.00010
|
|
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys)
|
rs374390581
|
0.00010
|
|
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)
|
rs773239926
|
0.00010
|
|
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln)
|
rs556624010
|
0.00010
|
|
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)
|
rs199887745
|
0.00010
|
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
|
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=)
|
rs368702156
|
0.00010
|
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
|
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
|
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)
|
rs727504190
|
0.00010
|
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
|
NM_001277115.2(DNAH11):c.11678C>T (p.Thr3893Met)
|
rs763843747
|
0.00010
|
|
NM_001277115.2(DNAH11):c.1586C>G (p.Thr529Ser)
|
rs183509559
|
0.00010
|
|
NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg)
|
rs200295318
|
0.00010
|
|
NM_001277115.2(DNAH11):c.8299G>A (p.Ala2767Thr)
|
rs200628085
|
0.00010
|
|
NM_001277115.2(DNAH11):c.8456A>G (p.Asn2819Ser)
|
rs371215793
|
0.00010
|
|
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)
|
rs199592861
|
0.00010
|
|
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)
|
rs201567623
|
0.00010
|
|
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)
|
rs55803460
|
0.00010
|
|
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)
|
rs141971313
|
0.00010
|
|
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His)
|
rs148539877
|
0.00010
|
|
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)
|
rs35546990
|
0.00010
|
|
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
|
rs145487328
|
0.00010
|
|
NM_001457.4(FLNB):c.2035C>T (p.Pro679Ser)
|
rs144158201
|
0.00010
|
|
NM_001543.5(NDST1):c.2317-4C>G
|
rs186262357
|
0.00010
|
|
NM_001846.4(COL4A2):c.445C>G (p.Pro149Ala)
|
rs548601003
|
0.00010
|
|
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)
|
rs140608161
|
0.00010
|
|
NM_001875.5(CPS1):c.186C>T (p.Gly62=)
|
rs529836556
|
0.00010
|
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
|
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)
|
rs140495790
|
0.00010
|
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
|
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=)
|
rs372410282
|
0.00010
|
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
|
NM_003465.3(CHIT1):c.1265G>A (p.Gly422Asp)
|
rs144422918
|
0.00010
|
|
NM_003465.3(CHIT1):c.400G>A (p.Gly134Ser)
|
rs374580719
|
0.00010
|
|
NM_003491.4(NAA10):c.141C>T (p.Asp47=)
|
rs375877098
|
0.00010
|
|
NM_003722.5(TP63):c.1877T>G (p.Val626Gly)
|
rs372318389
|
0.00010
|
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
|
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)
|
rs201919981
|
0.00010
|
|
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly)
|
rs758320436
|
0.00010
|
|
NM_004415.4(DSP):c.1140+6T>C
|
rs534740669
|
0.00010
|
|
NM_004606.5(TAF1):c.143G>A (p.Gly48Asp)
|
rs148448660
|
0.00010
|
|
NM_004621.6(TRPC6):c.667A>G (p.Ile223Val)
|
rs150033580
|
0.00010
|
|
NM_004655.4(AXIN2):c.1376G>A (p.Arg459His)
|
rs368525111
|
0.00010
|
|
NM_004984.4(KIF5A):c.152G>A (p.Arg51His)
|
rs773336059
|
0.00010
|
|
NM_005249.5(FOXG1):c.594C>G (p.Pro198=)
|
rs141088742
|
0.00010
|
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
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_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
|
NM_006231.4(POLE):c.6531+6G>T
|
rs774747998
|
0.00010
|
|
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val)
|
rs750315709
|
0.00010
|
|
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)
|
rs765114036
|
0.00010
|
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
|
NM_014915.3(ANKRD26):c.2005A>G (p.Asn669Asp)
|
rs368602859
|
0.00010
|
|
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)
|
rs200562991
|
0.00010
|
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
0.00010
|
|
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr)
|
rs200495793
|
0.00010
|
|
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)
|
rs765844768
|
0.00010
|
|
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)
|
rs201779159
|
0.00010
|
|
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)
|
rs200521815
|
0.00010
|
|
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys)
|
rs769442220
|
0.00010
|
|
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu)
|
rs149277592
|
0.00010
|
|
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln)
|
rs140476054
|
0.00010
|
|
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp)
|
rs377061296
|
0.00010
|
|
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His)
|
rs548407874
|
0.00010
|
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645
|
0.00010
|
|
NM_024422.6(DSC2):c.2314G>A (p.Val772Met)
|
rs146029947
|
0.00010
|
|
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=)
|
rs186136373
|
0.00010
|
|
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser)
|
rs143891279
|
0.00010
|
|
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)
|
rs376487875
|
0.00010
|
|
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu)
|
rs375377003
|
0.00010
|
|
NM_052989.3(IFT122):c.229G>A (p.Val77Ile)
|
rs369525803
|
0.00010
|
|
NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr)
|
rs369502542
|
0.00010
|
|
NM_178138.6(LHX3):c.198C>G (p.Ala66=)
|
rs190916587
|
0.00010
|
|
NM_182894.3(VSX2):c.564G>A (p.Pro188=)
|
rs201354547
|
0.00010
|
|
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)
|
rs145874555
|
0.00010
|
|
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)
|
rs149272010
|
0.00010
|
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
|
NM_194248.3(OTOF):c.5128A>C (p.Met1710Leu)
|
rs368639052
|
0.00010
|
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
|
NM_212482.4(FN1):c.1361C>A (p.Ala454Asp)
|
rs147802150
|
0.00010
|
|
NM_000017.4(ACADS):c.1108A>G (p.Met370Val)
|
rs566325901
|
0.00009
|
|
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)
|
rs150038846
|
0.00009
|
|
NM_000037.4(ANK1):c.483G>A (p.Ala161=)
|
rs200639644
|
0.00009
|
|
NM_000038.6(APC):c.5072C>T (p.Pro1691Leu)
|
rs1060503346
|
0.00009
|
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
|
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)
|
rs398122558
|
0.00009
|
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
|
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr)
|
rs150218077
|
0.00009
|
|
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp)
|
rs199758244
|
0.00009
|
|
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr)
|
rs551510986
|
0.00009
|
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
|
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser)
|
rs377003650
|
0.00009
|
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
0.00009
|
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
|
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)
|
rs138319290
|
0.00009
|
|
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=)
|
rs201140493
|
0.00009
|
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
|
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)
|
rs199652831
|
0.00009
|
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
|
NM_000141.5(FGFR2):c.33C>T (p.Val11=)
|
rs200562301
|
0.00009
|
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
|
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln)
|
rs398123531
|
0.00009
|
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
|
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)
|
rs199505265
|
0.00009
|
|
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)
|
rs200945282
|
0.00009
|
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
|
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)
|
rs148192104
|
0.00009
|
|
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00009
|
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
|
NM_000257.4(MYH7):c.4354-6G>A
|
rs368078397
|
0.00009
|
|
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)
|
rs369295226
|
0.00009
|
|
NM_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
|
NM_000282.4(PCCA):c.36C>T (p.Val12=)
|
rs375516917
|
0.00009
|
|
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)
|
rs766463226
|
0.00009
|
|
NM_000335.5(SCN5A):c.934+4C>T
|
rs182050752
|
0.00009
|
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
|
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)
|
rs368278927
|
0.00009
|
|
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp)
|
rs142828185
|
0.00009
|
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
|
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)
|
rs191471887
|
0.00009
|
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
|
NM_000518.5(HBB):c.316-179A>C
|
rs185607297
|
0.00009
|
|
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)
|
rs2229149
|
0.00009
|
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
0.00009
|
|
NM_000717.5(CA4):c.415A>T (p.Met139Leu)
|
rs185658468
|
0.00009
|
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00009
|
|
NM_000751.3(CHRND):c.525G>A (p.Thr175=)
|
rs56203086
|
0.00009
|
|
NM_001008537.3(NEXMIF):c.265C>T (p.His89Tyr)
|
rs752314023
|
0.00009
|
|
NM_001037.5(SCN1B):c.448+189C>A
|
rs766373298
|
0.00009
|
|
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=)
|
rs367546924
|
0.00009
|
|
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
|
rs587780744
|
0.00009
|
|
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
|
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu)
|
rs149846886
|
0.00009
|
|
NM_001110556.2(FLNA):c.2609A>G (p.His870Arg)
|
rs200679107
|
0.00009
|
|
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)
|
rs267608626
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)
|
rs551380805
|
0.00009
|
|
NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=)
|
rs201477760
|
0.00009
|
|
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys)
|
rs777768807
|
0.00009
|
|
NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser)
|
rs545171267
|
0.00009
|
|
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)
|
rs29372
|
0.00009
|
|
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn)
|
rs200672818
|
0.00009
|
|
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile)
|
rs370695020
|
0.00009
|
|
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys)
|
rs745791097
|
0.00009
|
|
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)
|
rs139333406
|
0.00009
|
|
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu)
|
rs78420579
|
0.00009
|
|
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)
|
rs141430143
|
0.00009
|
|
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=)
|
rs186672543
|
0.00009
|
|
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)
|
rs143885868
|
0.00009
|
|
NM_001206979.2(NR1H4):c.795C>T (p.Asn265=)
|
rs147030757
|
0.00009
|
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
|
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)
|
rs144639994
|
0.00009
|
|
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)
|
rs201904848
|
0.00009
|
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
|
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=)
|
rs762141482
|
0.00009
|
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
|
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)
|
rs370450339
|
0.00009
|
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
|
NM_001267550.2(TTN):c.68225-5T>C
|
rs758273663
|
0.00009
|
|
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)
|
rs369342933
|
0.00009
|
|
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)
|
rs755088564
|
0.00009
|
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
|
NM_001277115.2(DNAH11):c.10121A>G (p.Lys3374Arg)
|
rs763155183
|
0.00009
|
|
NM_001277115.2(DNAH11):c.11260C>G (p.Gln3754Glu)
|
rs372918576
|
0.00009
|
|
NM_001277115.2(DNAH11):c.133G>A (p.Ala45Thr)
|
rs772333047
|
0.00009
|
|
NM_001277115.2(DNAH11):c.1567T>C (p.Tyr523His)
|
rs200126117
|
0.00009
|
|
NM_001277115.2(DNAH11):c.2829T>G (p.Phe943Leu)
|
rs367640600
|
0.00009
|
|
NM_001277115.2(DNAH11):c.3910C>T (p.Arg1304Cys)
|
rs759530635
|
0.00009
|
|
NM_001277115.2(DNAH11):c.4900G>A (p.Ala1634Thr)
|
rs375527837
|
0.00009
|
|
NM_001277313.2(FMN1):c.2044-1533T>G
|
rs200018358
|
0.00009
|
|
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)
|
rs149737236
|
0.00009
|
|
NM_001291303.3(FAT4):c.6985C>T (p.Arg2329Cys)
|
rs148293496
|
0.00009
|
|
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys)
|
rs190450522
|
0.00009
|
|
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)
|
rs368776967
|
0.00009
|
|
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)
|
rs140690090
|
0.00009
|
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
|
NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=)
|
rs754242891
|
0.00009
|
|
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val)
|
rs139902197
|
0.00009
|
|
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg)
|
rs370556388
|
0.00009
|
|
NM_001382273.1(TNK2):c.1777G>A (p.Val593Met)
|
rs375205272
|
0.00009
|
|
NM_001457.4(FLNB):c.7003G>A (p.Val2335Met)
|
rs147537617
|
0.00009
|
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
|
NM_001493.3(GDI1):c.1280C>T (p.Thr427Met)
|
rs138939602
|
0.00009
|
|
NM_001614.5(ACTG1):c.231C>T (p.Thr77=)
|
rs375450454
|
0.00009
|
|
NM_001734.5(C1S):c.1079G>T (p.Gly360Val)
|
rs143619931
|
0.00009
|
|
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)
|
rs146046296
|
0.00009
|
|
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val)
|
rs72657933
|
0.00009
|
|
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met)
|
rs759287748
|
0.00009
|
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
|
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)
|
rs752594411
|
0.00009
|
|
NM_002282.3(KRT83):c.1423C>T (p.Pro475Ser)
|
rs200232339
|
0.00009
|
|
NM_002294.3(LAMP2):c.1093+2544A>G
|
rs777128122
|
0.00009
|
|
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu)
|
rs145319741
|
0.00009
|
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
|
NM_002691.4(POLD1):c.2388+5G>A
|
rs750085275
|
0.00009
|
|
NM_002693.3(POLG):c.2220C>T (p.Asn740=)
|
rs141538857
|
0.00009
|
|
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)
|
rs140066253
|
0.00009
|
|
NM_002778.4(PSAP):c.577-10T>C
|
rs185892516
|
0.00009
|
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00009
|
|
NM_002878.4(RAD51D):c.864C>T (p.Gly288=)
|
rs138557828
|
0.00009
|
|
NM_003227.4(TFR2):c.2367G>A (p.Ala789=)
|
rs374766778
|
0.00009
|
|
NM_003465.3(CHIT1):c.984C>T (p.Asp328=)
|
rs2275533
|
0.00009
|
|
NM_003664.5(AP3B1):c.537-9A>G
|
rs372285421
|
0.00009
|
|
NM_003722.5(TP63):c.1367C>T (p.Pro456Leu)
|
rs201479097
|
0.00009
|
|
NM_004064.5(CDKN1B):c.125C>T (p.Thr42Ile)
|
rs200422211
|
0.00009
|
|
NM_004064.5(CDKN1B):c.54C>T (p.Ala18=)
|
rs151027466
|
0.00009
|
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00009
|
|
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)
|
rs369459749
|
0.00009
|
|
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)
|
rs369930675
|
0.00009
|
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
|
NM_004465.2(FGF10):c.610A>G (p.Met204Val)
|
rs150695565
|
0.00009
|
|
NM_004519.4(KCNQ3):c.954C>A (p.Gly318=)
|
rs143224896
|
0.00009
|
|
NM_004525.3(LRP2):c.12296-4G>A
|
rs375166826
|
0.00009
|
|
NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln)
|
rs774866184
|
0.00009
|
|
NM_004655.4(AXIN2):c.2195C>T (p.Thr732Met)
|
rs373911689
|
0.00009
|
|
NM_005422.4(TECTA):c.3728G>A (p.Arg1243His)
|
rs376745254
|
0.00009
|
|
NM_005422.4(TECTA):c.65-14A>G
|
rs201171064
|
0.00009
|
|
NM_005445.4(SMC3):c.1581T>C (p.His527=)
|
rs182445355
|
0.00009
|
|
NM_005677.4(COLQ):c.814+11C>T
|
rs575840341
|
0.00009
|
|
NM_005876.5(SPEG):c.8860G>A (p.Gly2954Ser)
|
rs377476081
|
0.00009
|
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
|
NM_006206.6(PDGFRA):c.1319C>T (p.Thr440Met)
|
rs143344944
|
0.00009
|
|
NM_006231.4(POLE):c.5769C>T (p.Gly1923=)
|
rs375198950
|
0.00009
|
|
NM_006348.5(COG5):c.795C>T (p.Asp265=)
|
rs372226278
|
0.00009
|
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
|
NM_006796.3(AFG3L2):c.1866G>A (p.Leu622=)
|
rs777264204
|
0.00009
|
|
NM_006941.4(SOX10):c.574G>A (p.Gly192Ser)
|
rs200475773
|
0.00009
|
|
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)
|
rs769397647
|
0.00009
|
|
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)
|
rs148329626
|
0.00009
|
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
|
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg)
|
rs200678111
|
0.00009
|
|
NM_007374.3(SIX6):c.651C>T (p.Gly217=)
|
rs368912930
|
0.00009
|
|
NM_014000.3(VCL):c.1290C>T (p.Asp430=)
|
rs576271894
|
0.00009
|
|
NM_014363.6(SACS):c.1255A>G (p.Ile419Val)
|
rs767818359
|
0.00009
|
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
|
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=)
|
rs60284677
|
0.00009
|
|
NM_015338.6(ASXL1):c.2387G>C (p.Trp796Ser)
|
rs770674396
|
0.00009
|
|
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly)
|
rs200041829
|
0.00009
|
|
NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val)
|
rs201073816
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)
|
rs367710569
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile)
|
rs774068657
|
0.00009
|
|
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln)
|
rs375065108
|
0.00009
|
|
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)
|
rs753953205
|
0.00009
|
|
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr)
|
rs371071557
|
0.00009
|
|
NM_018006.5(TRMU):c.351T>C (p.Asn117=)
|
rs117710834
|
0.00009
|
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
|
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp)
|
rs56191073
|
0.00009
|
|
NM_021615.5(CHST6):c.15C>T (p.Arg5=)
|
rs762744897
|
0.00009
|
|
NM_021922.3(FANCE):c.1317-11C>T
|
rs147572271
|
0.00009
|
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
|
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr)
|
rs143585233
|
0.00009
|
|
NM_022455.5(NSD1):c.72C>T (p.Ala24=)
|
rs147146776
|
0.00009
|
|
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)
|
rs192003514
|
0.00009
|
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
|
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)
|
rs373269573
|
0.00009
|
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
|
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu)
|
rs200061071
|
0.00009
|
|
NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser)
|
rs372337877
|
0.00009
|
|
NM_032119.4(ADGRV1):c.16079-11C>G
|
rs374007277
|
0.00009
|
|
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=)
|
rs373768055
|
0.00009
|
|
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=)
|
rs146778076
|
0.00009
|
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
|
NM_130837.3(OPA1):c.211C>T (p.Arg71Cys)
|
rs368488165
|
0.00009
|
|
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)
|
rs139928148
|
0.00009
|
|
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys)
|
rs200524049
|
0.00009
|
|
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp)
|
rs573629753
|
0.00009
|
|
NM_153427.2(PITX2):c.-1385+12T>C
|
rs140614517
|
0.00009
|
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
|
NM_170606.3(KMT2C):c.11443A>G (p.Asn3815Asp)
|
rs762793049
|
0.00009
|
|
NM_172364.5(CACNA2D4):c.1968C>T (p.His656=)
|
rs200706568
|
0.00009
|
|
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser)
|
rs149868494
|
0.00009
|
|
NM_178857.6(RP1L1):c.5224G>A (p.Glu1742Lys)
|
rs558895396
|
0.00009
|
|
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp)
|
rs376877146
|
0.00009
|
|
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)
|
rs367549881
|
0.00009
|
|
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala)
|
rs201838350
|
0.00009
|
|
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=)
|
rs559510708
|
0.00009
|
|
NM_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
0.00008
|
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
|
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala)
|
rs80358899
|
0.00008
|
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
|
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)
|
rs751048080
|
0.00008
|
|
NM_000080.4(CHRNE):c.6A>G (p.Ala2=)
|
rs202198207
|
0.00008
|
|
NM_000132.4(F8):c.6724G>A (p.Val2242Met)
|
rs782654096
|
0.00008
|
|
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)
|
rs200093209
|
0.00008
|
|
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln)
|
rs553503699
|
0.00008
|
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
|
NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe)
|
rs751249745
|
0.00008
|
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
|
NM_000251.3(MSH2):c.1662-10C>T
|
rs752606387
|
0.00008
|
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
|
NM_000257.4(MYH7):c.1407T>C (p.Asp469=)
|
rs112172952
|
0.00008
|
|
NM_000264.5(PTCH1):c.801G>A (p.Glu267=)
|
rs374155092
|
0.00008
|
|
NM_000284.4(PDHA1):c.870C>T (p.His290=)
|
rs761411007
|
0.00008
|
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
|
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)
|
rs549467159
|
0.00008
|
|
NM_000368.5(TSC1):c.851G>A (p.Arg284His)
|
rs151309813
|
0.00008
|
|
NM_000444.6(PHEX):c.1917C>A (p.Thr639=)
|
rs201343697
|
0.00008
|
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
|
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe)
|
rs140772300
|
0.00008
|
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
|
NM_000732.6(CD3D):c.510C>T (p.Asn170=)
|
rs146997233
|
0.00008
|
|
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
|
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser)
|
rs186535459
|
0.00008
|
|
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr)
|
rs139459124
|
0.00008
|
|
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)
|
rs377369610
|
0.00008
|
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
|
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu)
|
rs267608491
|
0.00008
|
|
NM_001130987.2(DYSF):c.4464+7T>C
|
rs369949055
|
0.00008
|
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
|
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr)
|
rs577939684
|
0.00008
|
|
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val)
|
rs541672313
|
0.00008
|
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
|
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)
|
rs587780445
|
0.00008
|
|
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=)
|
rs188105111
|
0.00008
|
|
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
|
rs191968963
|
0.00008
|
|
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)
|
rs372264428
|
0.00008
|
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
|
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)
|
rs532102837
|
0.00008
|
|
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)
|
rs200410212
|
0.00008
|
|
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His)
|
rs561977468
|
0.00008
|
|
NM_001267550.2(TTN):c.80859G>A (p.Thr26953=)
|
rs771257647
|
0.00008
|
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
|
NM_001277115.2(DNAH11):c.12569G>A (p.Gly4190Asp)
|
rs374787771
|
0.00008
|
|
NM_001277115.2(DNAH11):c.6916G>A (p.Ala2306Thr)
|
rs200223750
|
0.00008
|
|
NM_001277115.2(DNAH11):c.806G>T (p.Gly269Val)
|
rs374505775
|
0.00008
|
|
NM_001277115.2(DNAH11):c.845T>C (p.Met282Thr)
|
rs747087320
|
0.00008
|
|
NM_001277115.2(DNAH11):c.8764T>C (p.Phe2922Leu)
|
rs552567607
|
0.00008
|
|
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)
|
rs199888009
|
0.00008
|
|
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=)
|
rs199714221
|
0.00008
|
|
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=)
|
rs201212909
|
0.00008
|
|
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser)
|
rs759032227
|
0.00008
|
|
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile)
|
rs141840001
|
0.00008
|
|
NM_001369.3(DNAH5):c.9911C>T (p.Ser3304Leu)
|
rs139821753
|
0.00008
|
|
NM_001399.5(EDA):c.491A>C (p.Glu164Ala)
|
rs397516663
|
0.00008
|
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
|
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=)
|
rs145023922
|
0.00008
|
|
NM_001844.5(COL2A1):c.2902G>A (p.Glu968Lys)
|
rs144572461
|
0.00008
|
|
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys)
|
rs781229123
|
0.00008
|
|
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)
|
rs558265763
|
0.00008
|
|
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)
|
rs555499592
|
0.00008
|
|
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr)
|
rs149166384
|
0.00008
|
|
NM_002474.3(MYH11):c.4953+12T>C
|
rs201595239
|
0.00008
|
|
NM_002547.3(OPHN1):c.1830C>T (p.Ser610=)
|
rs368803937
|
0.00008
|
|
NM_002693.3(POLG):c.2157+15G>A
|
rs766521182
|
0.00008
|
|
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)
|
rs761575154
|
0.00008
|
|
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His)
|
rs369091875
|
0.00008
|
|
NM_004239.4(TRIP11):c.492T>C (p.Phe164=)
|
rs367632896
|
0.00008
|
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00008
|
|
NM_004415.4(DSP):c.107G>C (p.Gly36Ala)
|
rs778506459
|
0.00008
|
|
NM_004415.4(DSP):c.5316T>C (p.Asp1772=)
|
rs376186141
|
0.00008
|
|
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=)
|
rs587781011
|
0.00008
|
|
NM_004958.4(MTOR):c.1555G>A (p.Ala519Thr)
|
rs201577876
|
0.00008
|
|
NM_005045.4(RELN):c.697G>A (p.Ala233Thr)
|
rs181961566
|
0.00008
|
|
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
0.00008
|
|
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu)
|
rs200997384
|
0.00008
|
|
NM_006514.4(SCN10A):c.3692T>C (p.Ile1231Thr)
|
rs147130891
|
0.00008
|
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
|
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile)
|
rs367860281
|
0.00008
|
|
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=)
|
rs182217350
|
0.00008
|
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
|
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)
|
rs375493384
|
0.00008
|
|
NM_015178.3(RHOBTB2):c.1615C>T (p.Arg539Trp)
|
rs571326568
|
0.00008
|
|
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=)
|
rs3761169
|
0.00008
|
|
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)
|
rs374352922
|
0.00008
|
|
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu)
|
rs199777870
|
0.00008
|
|
NM_017780.4(CHD7):c.127A>G (p.Ile43Val)
|
rs201542180
|
0.00008
|
|
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=)
|
rs373869399
|
0.00008
|
|
NM_017934.7(PHIP):c.1848A>C (p.Gln616His)
|
rs200020269
|
0.00008
|
|
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)
|
rs377732929
|
0.00008
|
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
|
NM_018941.4(CLN8):c.522C>T (p.Cys174=)
|
rs148417620
|
0.00008
|
|
NM_020632.3(ATP6V0A4):c.418-13C>G
|
rs752531162
|
0.00008
|
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
|
NM_021098.3(CACNA1H):c.3439A>G (p.Ser1147Gly)
|
rs780122141
|
0.00008
|
|
NM_021098.3(CACNA1H):c.718G>A (p.Val240Ile)
|
rs369630836
|
0.00008
|
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
|
NM_024301.5(FKRP):c.54T>A (p.Leu18=)
|
rs565563742
|
0.00008
|
|
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser)
|
rs369127299
|
0.00008
|
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
|
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
|
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=)
|
rs369726425
|
0.00008
|
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
|
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)
|
rs200635355
|
0.00008
|
|
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly)
|
rs775641112
|
0.00008
|
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
|
NM_152383.5(DIS3L2):c.1680G>A (p.Leu560=)
|
rs377644356
|
0.00008
|
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
|
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln)
|
rs371360176
|
0.00008
|
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00008
|
|
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)
|
rs118022241
|
0.00008
|
|
NM_199334.5(THRA):c.54-1G>A
|
rs199530759
|
0.00008
|
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
|
NM_000038.6(APC):c.934-14C>T
|
rs778707022
|
0.00007
|
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00007
|
|
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)
|
rs138542210
|
0.00007
|
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
|
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)
|
rs572782576
|
0.00007
|
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
0.00007
|
|
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val)
|
rs56337919
|
0.00007
|
|
NM_000061.3(BTK):c.1977C>T (p.Ser659=)
|
rs782047787
|
0.00007
|
|
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)
|
rs112236248
|
0.00007
|
|
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=)
|
rs371818752
|
0.00007
|
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
|
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=)
|
rs374093236
|
0.00007
|
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
|
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)
|
rs148291967
|
0.00007
|
|
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)
|
rs369881673
|
0.00007
|
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
|
NM_000142.5(FGFR3):c.639G>A (p.Leu213=)
|
rs138707520
|
0.00007
|
|
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)
|
rs13306411
|
0.00007
|
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
|
NM_000249.4(MLH1):c.545+19G>T
|
rs41285099
|
0.00007
|
|
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)
|
rs377345366
|
0.00007
|
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
|
NM_000251.3(MSH2):c.818T>C (p.Val273Ala)
|
rs144288433
|
0.00007
|
|
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)
|
rs199728019
|
0.00007
|
|
NM_000337.6(SGCD):c.402T>C (p.Ala134=)
|
rs190935424
|
0.00007
|
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
|
NM_000368.5(TSC1):c.1051A>G (p.Met351Val)
|
rs781312535
|
0.00007
|
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
|
NM_000383.4(AIRE):c.652+15G>A
|
rs760027964
|
0.00007
|
|
NM_000384.3(APOB):c.2312C>T (p.Pro771Leu)
|
rs200524554
|
0.00007
|
|
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)
|
rs201990892
|
0.00007
|
|
NM_000419.5(ITGA2B):c.1439+8C>T
|
rs371050454
|
0.00007
|
|
NM_000455.5(STK11):c.-2G>T
|
rs774072752
|
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_000458.4(HNF1B):c.*22G>A
|
rs200421746
|
0.00007
|
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00007
|
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00007
|
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
|
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)
|
rs139060277
|
0.00007
|
|
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser)
|
rs145549773
|
0.00007
|
|
NM_000787.4(DBH):c.1173G>A (p.Thr391=)
|
rs201689325
|
0.00007
|
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
|
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)
|
rs202067116
|
0.00007
|
|
NM_000918.4(P4HB):c.497C>T (p.Ser166Leu)
|
rs146846893
|
0.00007
|
|
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)
|
rs561421783
|
0.00007
|
|
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=)
|
rs777499631
|
0.00007
|
|
NM_001100913.3(PACS2):c.2133C>G (p.Asp711Glu)
|
rs782667380
|
0.00007
|
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
|
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu)
|
rs142545002
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His)
|
rs782727618
|
0.00007
|
|
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)
|
rs201768056
|
0.00007
|
|
NM_001130438.3(SPTAN1):c.237+4C>T
|
rs371350283
|
0.00007
|
|
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr)
|
rs876657971
|
0.00007
|
|
NM_001134407.3(GRIN2A):c.2636A>G (p.Lys879Arg)
|
rs183029507
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys)
|
rs371391349
|
0.00007
|
|
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met)
|
rs767584361
|
0.00007
|
|
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr)
|
rs536677256
|
0.00007
|
|
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr)
|
rs776231831
|
0.00007
|
|
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu)
|
rs200468391
|
0.00007
|
|
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser)
|
rs200490116
|
0.00007
|
|
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)
|
rs758458467
|
0.00007
|
|
NM_001267550.2(TTN):c.33340+5A>C
|
rs373367032
|
0.00007
|
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
|
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)
|
rs370810609
|
0.00007
|
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
|
NM_001277115.2(DNAH11):c.2525G>T (p.Arg842Met)
|
rs546817580
|
0.00007
|
|
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile)
|
rs373624232
|
0.00007
|
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
|
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu)
|
rs201474883
|
0.00007
|
|
NM_001303.4(COX10):c.1193G>A (p.Arg398His)
|
rs200942884
|
0.00007
|
|
NM_001367721.1(CASK):c.1669-8C>G
|
rs201327474
|
0.00007
|
|
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val)
|
rs763824667
|
0.00007
|
|
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys)
|
rs367654370
|
0.00007
|
|
NM_001457.4(FLNB):c.6221A>G (p.Lys2074Arg)
|
rs148043654
|
0.00007
|
|
NM_001558.4(IL10RA):c.336C>T (p.Thr112=)
|
rs192749274
|
0.00007
|
|
NM_001844.5(COL2A1):c.4255G>A (p.Val1419Met)
|
rs371226850
|
0.00007
|
|
NM_001845.6(COL4A1):c.1545A>T (p.Gln515His)
|
rs144950610
|
0.00007
|
|
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)
|
rs775563545
|
0.00007
|
|
NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln)
|
rs192313594
|
0.00007
|
|
NM_001854.4(COL11A1):c.2150A>G (p.Gln717Arg)
|
rs142524348
|
0.00007
|
|
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser)
|
rs199952288
|
0.00007
|
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
|
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)
|
rs375788626
|
0.00007
|
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
|
NM_002230.4(JUP):c.958C>T (p.Arg320Cys)
|
rs200740462
|
0.00007
|
|
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)
|
rs767426084
|
0.00007
|
|
NM_002474.3(MYH11):c.1056G>A (p.Ser352=)
|
rs201256839
|
0.00007
|
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
|
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)
|
rs78437096
|
0.00007
|
|
NM_002755.4(MAP2K1):c.1068+18G>A
|
rs369137482
|
0.00007
|
|
NM_002755.4(MAP2K1):c.292-3C>T
|
rs55694358
|
0.00007
|
|
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=)
|
rs140464170
|
0.00007
|
|
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys)
|
rs201283589
|
0.00007
|
|
NM_003482.4(KMT2D):c.1112+19C>T
|
rs398123703
|
0.00007
|
|
NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp)
|
rs542331667
|
0.00007
|
|
NM_003491.4(NAA10):c.564G>A (p.Pro188=)
|
rs150971216
|
0.00007
|
|
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu)
|
rs17851923
|
0.00007
|
|
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His)
|
rs782413552
|
0.00007
|
|
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val)
|
rs145101532
|
0.00007
|
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
|
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)
|
rs148023511
|
0.00007
|
|
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)
|
rs747580402
|
0.00007
|
|
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)
|
rs372569211
|
0.00007
|
|
NM_004463.3(FGD1):c.440G>A (p.Arg147His)
|
rs200707592
|
0.00007
|
|
NM_005477.3(HCN4):c.1243G>A (p.Val415Met)
|
rs201978086
|
0.00007
|
|
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln)
|
rs564049659
|
0.00007
|
|
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn)
|
rs201831309
|
0.00007
|
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
|
NM_006031.6(PCNT):c.1236T>C (p.His412=)
|
rs769637090
|
0.00007
|
|
NM_006158.5(NEFL):c.1458C>T (p.Ala486=)
|
rs61726486
|
0.00007
|
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
0.00007
|
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
|
NM_007294.4(BRCA1):c.5467+8G>A
|
rs80358062
|
0.00007
|
|
NM_013447.4(ADGRE2):c.2266G>T (p.Ala756Ser)
|
rs373190699
|
0.00007
|
|
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr)
|
rs782640594
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
|
rs150047440
|
0.00007
|
|
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)
|
rs539836931
|
0.00007
|
|
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)
|
rs373226693
|
0.00007
|
|
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg)
|
rs758563983
|
0.00007
|
|
NM_014714.4(IFT140):c.1653-14C>T
|
rs148433720
|
0.00007
|
|
NM_014915.3(ANKRD26):c.3286C>T (p.Arg1096Trp)
|
rs367849518
|
0.00007
|
|
NM_015338.6(ASXL1):c.1162G>A (p.Val388Ile)
|
rs145699348
|
0.00007
|
|
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val)
|
rs369520528
|
0.00007
|
|
NM_016169.4(SUFU):c.625C>T (p.His209Tyr)
|
rs770678862
|
0.00007
|
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)
|
rs371303106
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)
|
rs543770603
|
0.00007
|
|
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys)
|
rs780873661
|
0.00007
|
|
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)
|
rs376422513
|
0.00007
|
|
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)
|
rs369167555
|
0.00007
|
|
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile)
|
rs201514840
|
0.00007
|
|
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)
|
rs539324457
|
0.00007
|
|
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp)
|
rs576035669
|
0.00007
|
|
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile)
|
rs370883583
|
0.00007
|
|
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys)
|
rs369185359
|
0.00007
|
|
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val)
|
rs763675499
|
0.00007
|
|
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe)
|
rs201577113
|
0.00007
|
|
NM_022489.4(INF2):c.*1+1G>C
|
rs758452999
|
0.00007
|
|
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu)
|
rs771654748
|
0.00007
|
|
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)
|
rs370282739
|
0.00007
|
|
NM_031220.4(PITPNM3):c.287G>A (p.Arg96Gln)
|
rs199749069
|
0.00007
|
|
NM_031407.7(HUWE1):c.11477-6C>T
|
rs1269602767
|
0.00007
|
|
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
|
rs559550536
|
0.00007
|
|
NM_033380.3(COL4A5):c.1813C>A (p.Pro605Thr)
|
rs781016371
|
0.00007
|
|
NM_053025.4(MYLK):c.601C>T (p.Leu201=)
|
rs773082759
|
0.00007
|
|
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser)
|
rs747029402
|
0.00007
|
|
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)
|
rs147576338
|
0.00007
|
|
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)
|
rs202161423
|
0.00007
|
|
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=)
|
rs186340144
|
0.00007
|
|
NM_174936.4(PCSK9):c.609C>T (p.Thr203=)
|
rs200856421
|
0.00007
|
|
NM_181303.2(NLGN3):c.282G>A (p.Ser94=)
|
rs143817848
|
0.00007
|
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00007
|
|
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
|
rs771803942
|
0.00007
|
|
NM_000038.6(APC):c.1005A>G (p.Leu335=)
|
rs3797704
|
0.00006
|
|
NM_000038.6(APC):c.1139G>A (p.Arg380Gln)
|
rs587782886
|
0.00006
|
|
NM_000038.6(APC):c.2461G>A (p.Val821Ile)
|
rs138498551
|
0.00006
|
|
NM_000038.6(APC):c.4478C>T (p.Thr1493Met)
|
rs374892194
|
0.00006
|
|
NM_000038.6(APC):c.5774C>A (p.Pro1925His)
|
rs762682111
|
0.00006
|
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
|
NM_000038.6(APC):c.7577A>G (p.His2526Arg)
|
rs750012595
|
0.00006
|
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
0.00006
|
|
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)
|
rs587778046
|
0.00006
|
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
|
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)
|
rs546721020
|
0.00006
|
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
|
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)
|
rs369629509
|
0.00006
|
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
rs55968715
|
0.00006
|
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
|
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)
|
rs80358716
|
0.00006
|
|
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)
|
rs587782601
|
0.00006
|
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
|
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys)
|
rs80359123
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln)
|
rs553619980
|
0.00006
|
|
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr)
|
rs753901380
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)
|
rs145039828
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln)
|
rs530655602
|
0.00006
|
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
|
NM_000090.4(COL3A1):c.1150-13T>C
|
rs201839712
|
0.00006
|
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
0.00006
|
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
|
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)
|
rs139343205
|
0.00006
|
|
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met)
|
rs764446683
|
0.00006
|
|
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)
|
rs199673198
|
0.00006
|
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
|
NM_000138.5(FBN1):c.4211-10C>T
|
rs28730793
|
0.00006
|
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
|
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
|
NM_000162.5(GCK):c.363+10G>A
|
rs758495950
|
0.00006
|
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
|
NM_000179.3(MSH6):c.1162C>G (p.His388Asp)
|
rs770386388
|
0.00006
|
|
NM_000179.3(MSH6):c.1498G>A (p.Ala500Thr)
|
rs786204127
|
0.00006
|
|
NM_000179.3(MSH6):c.197C>T (p.Pro66Leu)
|
rs730881812
|
0.00006
|
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
|
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)
|
rs371053403
|
0.00006
|
|
NM_000186.4(CFH):c.2196G>A (p.Thr732=)
|
rs144325643
|
0.00006
|
|
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)
|
rs139799938
|
0.00006
|
|
NM_000207.3(INS):c.*42C>T
|
rs376867722
|
0.00006
|
|
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser)
|
rs751516838
|
0.00006
|
|
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp)
|
rs201608372
|
0.00006
|
|
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
|
rs1026004197
|
0.00006
|
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
0.00006
|
|
NM_000219.6(KCNE1):c.-3del
|
rs397515878
|
0.00006
|
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
|
NM_000249.4(MLH1):c.207+12C>T
|
rs121909450
|
0.00006
|
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00006
|
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
|
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn)
|
rs730880906
|
0.00006
|
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
|
NM_000257.4(MYH7):c.714C>T (p.Asn238=)
|
rs202141819
|
0.00006
|
|
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His)
|
rs199523893
|
0.00006
|
|
NM_000280.4(PAX6):c.*3318A>G
|
rs371438311
|
0.00006
|
|
NM_000310.4(PPT1):c.*6G>A
|
rs113082671
|
0.00006
|
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00006
|
|
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)
|
rs748094394
|
0.00006
|
|
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)
|
rs368811155
|
0.00006
|
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
|
NM_000350.3(ABCA4):c.3523-9C>G
|
rs374302531
|
0.00006
|
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
|
NM_000352.6(ABCC8):c.2222+12A>G
|
rs534103042
|
0.00006
|
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
|
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser)
|
rs200517023
|
0.00006
|
|
NM_000363.5(TNNI3):c.139T>C (p.Leu47=)
|
rs587780967
|
0.00006
|
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00006
|
|
NM_000384.3(APOB):c.9317A>G (p.Asn3106Ser)
|
rs546747242
|
0.00006
|
|
NM_000390.4(CHM):c.957A>G (p.Thr319=)
|
rs373242750
|
0.00006
|
|
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)
|
rs28943590
|
0.00006
|
|
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp)
|
rs367707092
|
0.00006
|
|
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=)
|
rs538803955
|
0.00006
|
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
|
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)
|
rs376906761
|
0.00006
|
|
NM_000493.4(COL10A1):c.737T>C (p.Ile246Thr)
|
rs764388204
|
0.00006
|
|
NM_000512.5(GALNS):c.887C>T (p.Ala296Val)
|
rs200371805
|
0.00006
|
|
NM_000512.5(GALNS):c.921G>T (p.Leu307=)
|
rs201986622
|
0.00006
|
|
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu)
|
rs749322464
|
0.00006
|
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
|
NM_000540.3(RYR1):c.8598C>T (p.Thr2866=)
|
rs538250432
|
0.00006
|
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
|
NM_000546.6(TP53):c.920-17C>A
|
rs911934766
|
0.00006
|
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
|
NM_000548.5(TSC2):c.5319T>C (p.His1773=)
|
rs536518032
|
0.00006
|
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
|
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp)
|
rs113157354
|
0.00006
|
|
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met)
|
rs377737331
|
0.00006
|
|
NM_000733.4(CD3E):c.441G>A (p.Leu147=)
|
rs528492194
|
0.00006
|
|
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)
|
rs368498747
|
0.00006
|
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
|
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr)
|
rs770206566
|
0.00006
|
|
NM_001008537.3(NEXMIF):c.3386T>G (p.Phe1129Cys)
|
rs202207238
|
0.00006
|
|
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)
|
rs530832015
|
0.00006
|
|
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=)
|
rs754808908
|
0.00006
|
|
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358
|
0.00006
|
|
NM_001032382.2(PQBP1):c.489C>T (p.Arg163=)
|
rs782276356
|
0.00006
|
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=)
|
rs144325450
|
0.00006
|
|
NM_001042492.3(NF1):c.7870-8C>A
|
rs372441422
|
0.00006
|
|
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
|
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)
|
rs730881838
|
0.00006
|
|
NM_001082971.2(DDC):c.135T>C (p.Ala45=)
|
rs11575291
|
0.00006
|
|
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala)
|
rs755775428
|
0.00006
|
|
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser)
|
rs779819069
|
0.00006
|
|
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)
|
rs141988342
|
0.00006
|
|
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp)
|
rs61752361
|
0.00006
|
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
|
NM_001114753.3(ENG):c.1695T>C (p.His565=)
|
rs750637713
|
0.00006
|
|
NM_001127511.3(APC):c.125G>A (p.Gly42Asp)
|
rs1057517570
|
0.00006
|
|
NM_001127644.2(GABRA1):c.704-10T>C
|
rs188133840
|
0.00006
|
|
NM_001130823.3(DNMT1):c.3806+6C>T
|
rs371779379
|
0.00006
|
|
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)
|
rs377706756
|
0.00006
|
|
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe)
|
rs371828469
|
0.00006
|
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
|
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys)
|
rs200818171
|
0.00006
|
|
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)
|
rs372284984
|
0.00006
|
|
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val)
|
rs750039342
|
0.00006
|
|
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln)
|
rs766072117
|
0.00006
|
|
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr)
|
rs756135837
|
0.00006
|
|
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr)
|
rs554984749
|
0.00006
|
|
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr)
|
rs369275207
|
0.00006
|
|
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223
|
0.00006
|
|
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys)
|
rs756926807
|
0.00006
|
|
NM_001164508.2(NEB):c.7875G>A (p.Lys2625=)
|
rs577894144
|
0.00006
|
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
|
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)
|
rs368834365
|
0.00006
|
|
NM_001166108.2(PALLD):c.2084T>G (p.Leu695Arg)
|
rs139375029
|
0.00006
|
|
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=)
|
rs35770729
|
0.00006
|
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
|
NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=)
|
rs558369303
|
0.00006
|
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
|
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)
|
rs199663911
|
0.00006
|
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
|
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)
|
rs561557554
|
0.00006
|
|
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe)
|
rs772882862
|
0.00006
|
|
NM_001267550.2(TTN):c.47598A>G (p.Leu15866=)
|
rs879099244
|
0.00006
|
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
|
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=)
|
rs750472100
|
0.00006
|
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
|
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=)
|
rs370272814
|
0.00006
|
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
|
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)
|
rs200406978
|
0.00006
|
|
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)
|
rs775499341
|
0.00006
|
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
|
NM_001277115.2(DNAH11):c.10631A>G (p.Glu3544Gly)
|
rs928335497
|
0.00006
|
|
NM_001277115.2(DNAH11):c.11458G>A (p.Val3820Ile)
|
rs777011433
|
0.00006
|
|
NM_001277115.2(DNAH11):c.2402C>T (p.Thr801Met)
|
rs370878968
|
0.00006
|
|
NM_001277115.2(DNAH11):c.3040C>G (p.Gln1014Glu)
|
rs375314297
|
0.00006
|
|
NM_001277115.2(DNAH11):c.6131G>A (p.Arg2044Gln)
|
rs372051486
|
0.00006
|
|
NM_001277115.2(DNAH11):c.647C>T (p.Thr216Ile)
|
rs375238384
|
0.00006
|
|
NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu)
|
rs375008007
|
0.00006
|
|
NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly)
|
rs773498002
|
0.00006
|
|
NM_001277115.2(DNAH11):c.7279C>G (p.Gln2427Glu)
|
rs202236144
|
0.00006
|
|
NM_001277115.2(DNAH11):c.7292G>T (p.Ser2431Ile)
|
rs185039462
|
0.00006
|
|
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys)
|
rs550602612
|
0.00006
|
|
NM_001277115.2(DNAH11):c.998A>G (p.Gln333Arg)
|
rs878854450
|
0.00006
|
|
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln)
|
rs189400843
|
0.00006
|
|
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=)
|
rs192909520
|
0.00006
|
|
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr)
|
rs200808105
|
0.00006
|
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
|
NM_001355436.2(SPTB):c.5422G>A (p.Glu1808Lys)
|
rs143950158
|
0.00006
|
|
NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=)
|
rs543345616
|
0.00006
|
|
NM_001366722.1(GRIP1):c.2327G>A (p.Gly776Glu)
|
rs181365280
|
0.00006
|
|
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn)
|
rs749179728
|
0.00006
|
|
NM_001367624.2(ZNF469):c.4463C>T (p.Pro1488Leu)
|
rs565994438
|
0.00006
|
|
NM_001367624.2(ZNF469):c.6236C>T (p.Ser2079Phe)
|
rs765190704
|
0.00006
|
|
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)
|
rs761603858
|
0.00006
|
|
NM_001367721.1(CASK):c.1315-10A>G
|
rs375004542
|
0.00006
|
|
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)
|
rs150773884
|
0.00006
|
|
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His)
|
rs138838869
|
0.00006
|
|
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)
|
rs141828476
|
0.00006
|
|
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)
|
rs141651575
|
0.00006
|
|
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu)
|
rs139857637
|
0.00006
|
|
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu)
|
rs138494768
|
0.00006
|
|
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377
|
0.00006
|
|
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro)
|
rs755937050
|
0.00006
|
|
NM_001395413.1(POR):c.991G>A (p.Val331Ile)
|
rs562241770
|
0.00006
|
|
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln)
|
rs145910735
|
0.00006
|
|
NM_001739.2(CA5A):c.543C>T (p.Gly181=)
|
rs534860826
|
0.00006
|
|
NM_001793.6(CDH3):c.1704G>A (p.Thr568=)
|
rs561193756
|
0.00006
|
|
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)
|
rs375476174
|
0.00006
|
|
NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn)
|
rs572826781
|
0.00006
|
|
NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu)
|
rs776773238
|
0.00006
|
|
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg)
|
rs760387652
|
0.00006
|
|
NM_001854.4(COL11A1):c.4328A>C (p.Lys1443Thr)
|
rs769350133
|
0.00006
|
|
NM_001854.4(COL11A1):c.4586T>C (p.Leu1529Pro)
|
rs578137786
|
0.00006
|
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
|
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)
|
rs371640952
|
0.00006
|
|
NM_001999.4(FBN2):c.5800+5G>A
|
rs375487064
|
0.00006
|
|
NM_002076.4(GNS):c.876-13T>C
|
rs543570530
|
0.00006
|
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
|
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu)
|
rs142860588
|
0.00006
|
|
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=)
|
rs186771094
|
0.00006
|
|
NM_002335.4(LRP5):c.4272C>T (p.His1424=)
|
rs145226802
|
0.00006
|
|
NM_002439.5(MSH3):c.169G>C (p.Ala57Pro)
|
rs144776112
|
0.00006
|
|
NM_002471.4(MYH6):c.2685G>A (p.Ala895=)
|
rs752345245
|
0.00006
|
|
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg)
|
rs368440234
|
0.00006
|
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
|
NM_002474.3(MYH11):c.5614-7G>A
|
rs202120792
|
0.00006
|
|
NM_002691.4(POLD1):c.3218+5G>A
|
rs569395274
|
0.00006
|
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00006
|
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
|
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)
|
rs146936870
|
0.00006
|
|
NM_002693.3(POLG):c.3450C>T (p.Ala1150=)
|
rs774880085
|
0.00006
|
|
NM_002734.5(PRKAR1A):c.798G>A (p.Thr266=)
|
rs201774040
|
0.00006
|
|
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu)
|
rs201550522
|
0.00006
|
|
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)
|
rs17721570
|
0.00006
|
|
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=)
|
rs143600641
|
0.00006
|
|
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr)
|
rs118088187
|
0.00006
|
|
NM_003193.5(TBCE):c.963+8C>G
|
rs199555636
|
0.00006
|
|
NM_003283.6(TNNT1):c.791+12C>T
|
rs201143291
|
0.00006
|
|
NM_003465.3(CHIT1):c.382C>T (p.Arg128Cys)
|
rs377403883
|
0.00006
|
|
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu)
|
rs752477959
|
0.00006
|
|
NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr)
|
rs200747934
|
0.00006
|
|
NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr)
|
rs200106242
|
0.00006
|
|
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)
|
rs143063879
|
0.00006
|
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
|
NM_003722.5(TP63):c.1083G>A (p.Lys361=)
|
rs148937466
|
0.00006
|
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
|
NM_004132.5(HABP2):c.177T>A (p.Leu59=)
|
rs187029293
|
0.00006
|
|
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser)
|
rs750840234
|
0.00006
|
|
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
|
rs2491079
|
0.00006
|
|
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)
|
rs768455823
|
0.00006
|
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
|
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
|
rs149827779
|
0.00006
|
|
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile)
|
rs201325716
|
0.00006
|
|
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)
|
rs56231927
|
0.00006
|
|
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala)
|
rs1319771049
|
0.00006
|
|
NM_004621.6(TRPC6):c.2299G>A (p.Val767Met)
|
rs200772226
|
0.00006
|
|
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)
|
rs141936187
|
0.00006
|
|
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter)
|
rs139326865
|
0.00006
|
|
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val)
|
rs753324965
|
0.00006
|
|
NM_005529.7(HSPG2):c.12487C>T (p.Arg4163Cys)
|
rs139743858
|
0.00006
|
|
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)
|
rs760256649
|
0.00006
|
|
NM_006015.6(ARID1A):c.5246G>A (p.Arg1749Lys)
|
rs370901533
|
0.00006
|
|
NM_006180.6(NTRK2):c.746C>A (p.Ser249Tyr)
|
rs772111782
|
0.00006
|
|
NM_006206.6(PDGFRA):c.1388C>G (p.Thr463Ser)
|
rs375047532
|
0.00006
|
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
|
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
|
rs200611081
|
0.00006
|
|
NM_006393.3(NEBL):c.2346+6G>A
|
rs201822024
|
0.00006
|
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
|
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=)
|
rs139261473
|
0.00006
|
|
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser)
|
rs775566992
|
0.00006
|
|
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln)
|
rs758312194
|
0.00006
|
|
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=)
|
rs201489069
|
0.00006
|
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
|
NM_007294.4(BRCA1):c.135-3T>C
|
rs759417413
|
0.00006
|
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
|
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly)
|
rs111539978
|
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.2522G>A (p.Arg841Gln)
|
rs80357337
|
0.00006
|
|
NM_007294.4(BRCA1):c.301+7G>A
|
rs80358113
|
0.00006
|
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
|
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val)
|
rs80357353
|
0.00006
|
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
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_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
|
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)
|
rs149517613
|
0.00006
|
|
NM_013447.4(ADGRE2):c.137G>A (p.Arg46His)
|
rs142343910
|
0.00006
|
|
NM_013447.4(ADGRE2):c.2174G>A (p.Arg725Gln)
|
rs374432034
|
0.00006
|
|
NM_014141.6(CNTNAP2):c.402+8A>G
|
rs201311931
|
0.00006
|
|
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys)
|
rs369421455
|
0.00006
|
|
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)
|
rs770895110
|
0.00006
|
|
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
|
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)
|
rs143557803
|
0.00006
|
|
NM_014727.3(KMT2B):c.4825G>A (p.Val1609Ile)
|
rs368307141
|
0.00006
|
|
NM_014855.3(AP5Z1):c.351C>T (p.Ser117=)
|
rs374912181
|
0.00006
|
|
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His)
|
rs753924410
|
0.00006
|
|
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=)
|
rs201473375
|
0.00006
|
|
NM_014989.7(RIMS1):c.4506-5G>A
|
rs201556693
|
0.00006
|
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
|
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)
|
rs202190131
|
0.00006
|
|
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)
|
rs200276195
|
0.00006
|
|
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg)
|
rs201474295
|
0.00006
|
|
NM_015627.3(LDLRAP1):c.747+13G>A
|
rs202247605
|
0.00006
|
|
NM_016203.4(PRKAG2):c.*55C>T
|
rs371637024
|
0.00006
|
|
NM_016239.4(MYO15A):c.2174C>G (p.Pro725Arg)
|
rs781006180
|
0.00006
|
|
NM_016366.3(CABP2):c.345C>A (p.Thr115=)
|
rs376093439
|
0.00006
|
|
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)
|
rs752071569
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)
|
rs377351349
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)
|
rs377594681
|
0.00006
|
|
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr)
|
rs372660483
|
0.00006
|
|
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys)
|
rs199652954
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu)
|
rs761839390
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)
|
rs536167222
|
0.00006
|
|
NM_017780.4(CHD7):c.90G>A (p.Pro30=)
|
rs374464240
|
0.00006
|
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
|
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr)
|
rs546737191
|
0.00006
|
|
NM_018206.6(VPS35):c.1420C>G (p.Gln474Glu)
|
rs370401767
|
0.00006
|
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
|
NM_018896.5(CACNA1G):c.3553C>T (p.Arg1185Cys)
|
rs573971701
|
0.00006
|
|
NM_020297.4(ABCC9):c.1988G>A (p.Arg663His)
|
rs141999048
|
0.00006
|
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
|
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)
|
rs535704197
|
0.00006
|
|
NM_020975.6(RET):c.1649-4G>A
|
rs369769303
|
0.00006
|
|
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro)
|
rs377549389
|
0.00006
|
|
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)
|
rs538758039
|
0.00006
|
|
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys)
|
rs753993842
|
0.00006
|
|
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val)
|
rs769568324
|
0.00006
|
|
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln)
|
rs759668583
|
0.00006
|
|
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile)
|
rs374558503
|
0.00006
|
|
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu)
|
rs749054531
|
0.00006
|
|
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)
|
rs554063452
|
0.00006
|
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
|
NM_022114.4(PRDM16):c.2747C>T (p.Ala916Val)
|
rs756209340
|
0.00006
|
|
NM_022765.4(MICAL1):c.3120G>T (p.Leu1040Phe)
|
rs150739904
|
0.00006
|
|
NM_024105.4(ALG12):c.469+14G>A
|
rs76905919
|
0.00006
|
|
NM_024105.4(ALG12):c.639C>T (p.Ala213=)
|
rs140835842
|
0.00006
|
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00006
|
|
NM_024422.6(DSC2):c.2139G>A (p.Thr713=)
|
rs112532429
|
0.00006
|
|
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
|
rs759513934
|
0.00006
|
|
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)
|
rs141379407
|
0.00006
|
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
rs576081828
|
0.00006
|
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
|
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
|
rs373272114
|
0.00006
|
|
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu)
|
rs376787713
|
0.00006
|
|
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val)
|
rs143155406
|
0.00006
|
|
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=)
|
rs772286870
|
0.00006
|
|
NM_025074.7(FRAS1):c.39G>A (p.Ala13=)
|
rs773457837
|
0.00006
|
|
NM_025137.4(SPG11):c.789A>G (p.Lys263=)
|
rs764439012
|
0.00006
|
|
NM_030665.4(RAI1):c.2951C>T (p.Ala984Val)
|
rs371644042
|
0.00006
|
|
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu)
|
rs374187267
|
0.00006
|
|
NM_030665.4(RAI1):c.397C>T (p.Pro133Ser)
|
rs183251531
|
0.00006
|
|
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser)
|
rs145732429
|
0.00006
|
|
NM_030665.4(RAI1):c.5717C>T (p.Pro1906Leu)
|
rs754508586
|
0.00006
|
|
NM_030665.4(RAI1):c.757G>A (p.Ala253Thr)
|
rs758931451
|
0.00006
|
|
NM_031407.7(HUWE1):c.147C>T (p.Cys49=)
|
rs149435515
|
0.00006
|
|
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp)
|
rs373039242
|
0.00006
|
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
|
NM_032119.4(ADGRV1):c.13600A>G (p.Met4534Val)
|
rs761667882
|
0.00006
|
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00006
|
|
NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His)
|
rs957902805
|
0.00006
|
|
NM_080680.3(COL11A2):c.4057G>A (p.Val1353Met)
|
rs752706766
|
0.00006
|
|
NM_080680.3(COL11A2):c.4541G>A (p.Arg1514His)
|
rs756194499
|
0.00006
|
|
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys)
|
rs727504458
|
0.00006
|
|
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=)
|
rs577104686
|
0.00006
|
|
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys)
|
rs144690298
|
0.00006
|
|
NM_133497.4(KCNV2):c.647T>C (p.Ile216Thr)
|
rs558295858
|
0.00006
|
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
|
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)
|
rs201091083
|
0.00006
|
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
|
NM_139076.3(ABRAXAS1):c.476+5A>C
|
rs753767582
|
0.00006
|
|
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln)
|
rs373285006
|
0.00006
|
|
NM_152383.5(DIS3L2):c.1839C>T (p.Pro613=)
|
rs187677159
|
0.00006
|
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
|
NM_152703.5(SAMD9L):c.4512T>G (p.Asn1504Lys)
|
rs200615225
|
0.00006
|
|
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His)
|
rs149255570
|
0.00006
|
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
|
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)
|
rs74315449
|
0.00006
|
|
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)
|
rs377750405
|
0.00006
|
|
NM_174916.3(UBR1):c.2678C>T (p.Thr893Ile)
|
rs199513326
|
0.00006
|
|
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr)
|
rs200408568
|
0.00006
|
|
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile)
|
rs376207235
|
0.00006
|
|
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu)
|
rs80046702
|
0.00006
|
|
NM_194318.4(B3GLCT):c.71-9T>C
|
rs569540121
|
0.00006
|
|
NM_198525.3(KIF7):c.530-7C>T
|
rs202043641
|
0.00006
|
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
|
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
|
rs540229057
|
0.00006
|
|
NM_000026.4(ADSL):c.1200T>C (p.His400=)
|
rs751401941
|
0.00005
|
|
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)
|
rs367799134
|
0.00005
|
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
|
NM_000048.4(ASL):c.1263G>A (p.Ser421=)
|
rs542163407
|
0.00005
|
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
|
NM_000057.4(BLM):c.4077-5T>C
|
rs200653178
|
0.00005
|
|
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=)
|
rs80359785
|
0.00005
|
|
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser)
|
rs80358776
|
0.00005
|
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
|
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=)
|
rs80359811
|
0.00005
|
|
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile)
|
rs775885648
|
0.00005
|
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00005
|
|
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu)
|
rs370234887
|
0.00005
|
|
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)
|
rs201615111
|
0.00005
|
|
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)
|
rs376478864
|
0.00005
|
|
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)
|
rs574853557
|
0.00005
|
|
NM_000117.3(EMD):c.525C>T (p.Ser175=)
|
rs782367505
|
0.00005
|
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
0.00005
|
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
|
NM_000146.4(FTL):c.*8C>T
|
rs373178636
|
0.00005
|
|
NM_000170.3(GLDC):c.250C>T (p.Leu84=)
|
rs746606221
|
0.00005
|
|
NM_000179.3(MSH6):c.16A>C (p.Thr6Pro)
|
rs200944853
|
0.00005
|
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
|
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)
|
rs146306707
|
0.00005
|
|
NM_000214.3(JAG1):c.2781C>T (p.Val927=)
|
rs746664646
|
0.00005
|
|
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu)
|
rs775363555
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1128+4C>T
|
rs201590918
|
0.00005
|
|
NM_000219.6(KCNE1):c.-5C>A
|
rs191334763
|
0.00005
|
|
NM_000246.4(CIITA):c.3063-12G>T
|
rs559875711
|
0.00005
|
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
|
NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp)
|
rs890670494
|
0.00005
|
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1227-10C>T
|
rs374673836
|
0.00005
|
|
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val)
|
rs397516300
|
0.00005
|
|
NM_000280.4(PAX6):c.*3746C>T
|
rs567720234
|
0.00005
|
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
|
NM_000321.3(RB1):c.2003G>A (p.Arg668His)
|
rs551747882
|
0.00005
|
|
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser)
|
rs772552529
|
0.00005
|
|
NM_000335.5(SCN5A):c.3664-7T>A
|
rs373156650
|
0.00005
|
|
NM_000335.5(SCN5A):c.4811-5C>T
|
rs765962519
|
0.00005
|
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
|
NM_000350.3(ABCA4):c.4848+13T>C
|
rs374196141
|
0.00005
|
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
|
NM_000381.4(MID1):c.1663A>C (p.Ile555Leu)
|
rs398123341
|
0.00005
|
|
NM_000381.4(MID1):c.99C>T (p.Cys33=)
|
rs727504015
|
0.00005
|
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
|
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)
|
rs184492796
|
0.00005
|
|
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met)
|
rs564452430
|
0.00005
|
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
|
NM_000458.4(HNF1B):c.1239C>T (p.Val413=)
|
rs201113814
|
0.00005
|
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
|
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
|
NM_000489.6(ATRX):c.118A>G (p.Met40Val)
|
rs149990714
|
0.00005
|
|
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=)
|
rs781829081
|
0.00005
|
|
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val)
|
rs13306505
|
0.00005
|
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
|
NM_000531.6(OTC):c.1005+11A>T
|
rs375524303
|
0.00005
|
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
|
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val)
|
rs551396698
|
0.00005
|
|
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met)
|
rs572234918
|
0.00005
|
|
NM_000824.5(GLRB):c.952G>A (p.Ala318Thr)
|
rs750803516
|
0.00005
|
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
|
NM_001008537.3(NEXMIF):c.3650G>A (p.Arg1217His)
|
rs143271748
|
0.00005
|
|
NM_001008537.3(NEXMIF):c.381G>A (p.Glu127=)
|
rs148717498
|
0.00005
|
|
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val)
|
rs201408009
|
0.00005
|
|
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser)
|
rs371925633
|
0.00005
|
|
NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp)
|
rs201489630
|
0.00005
|
|
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys)
|
rs62638645
|
0.00005
|
|
NM_001037.5(SCN1B):c.561C>T (p.Ala187=)
|
rs587781152
|
0.00005
|
|
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=)
|
rs375084663
|
0.00005
|
|
NM_001100913.3(PACS2):c.1269-4A>G
|
rs376690008
|
0.00005
|
|
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn)
|
rs782739586
|
0.00005
|
|
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
|
NM_001111067.4(ACVR1):c.76C>T (p.Pro26Ser)
|
rs377197386
|
0.00005
|
|
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)
|
rs368533266
|
0.00005
|
|
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=)
|
rs551045474
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
|
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys)
|
rs770328474
|
0.00005
|
|
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser)
|
rs531782747
|
0.00005
|
|
NM_001148.6(ANK2):c.9172C>T (p.Arg3058Cys)
|
rs188282049
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)
|
rs782308530
|
0.00005
|
|
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His)
|
rs550715282
|
0.00005
|
|
NM_001164508.2(NEB):c.11182-8T>A
|
rs183088493
|
0.00005
|
|
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr)
|
rs753428817
|
0.00005
|
|
NM_001164508.2(NEB):c.7246C>G (p.Leu2416Val)
|
rs747337656
|
0.00005
|
|
NM_001205293.3(CACNA1E):c.3457C>T (p.Arg1153Cys)
|
rs372912168
|
0.00005
|
|
NM_001244710.2(GFPT1):c.224-10T>C
|
rs777508704
|
0.00005
|
|
NM_001256545.2(MEGF10):c.522G>A (p.Arg174=)
|
rs201076330
|
0.00005
|
|
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)
|
rs374346637
|
0.00005
|
|
NM_001267550.2(TTN):c.49649-11T>C
|
rs727504474
|
0.00005
|
|
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)
|
rs374672630
|
0.00005
|
|
NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile)
|
rs56373393
|
0.00005
|
|
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile)
|
rs201992075
|
0.00005
|
|
NM_001277115.2(DNAH11):c.10796A>G (p.Gln3599Arg)
|
rs371437266
|
0.00005
|
|
NM_001277115.2(DNAH11):c.10978G>C (p.Ala3660Pro)
|
rs200057913
|
0.00005
|
|
NM_001277115.2(DNAH11):c.11114A>G (p.Tyr3705Cys)
|
rs370580628
|
0.00005
|
|
NM_001277115.2(DNAH11):c.13262C>T (p.Pro4421Leu)
|
rs780579730
|
0.00005
|
|
NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys)
|
rs367670668
|
0.00005
|
|
NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys)
|
rs367916239
|
0.00005
|
|
NM_001277115.2(DNAH11):c.5591C>G (p.Pro1864Arg)
|
rs367858452
|
0.00005
|
|
NM_001277115.2(DNAH11):c.7864G>A (p.Ala2622Thr)
|
rs200462132
|
0.00005
|
|
NM_001277115.2(DNAH11):c.8336T>C (p.Leu2779Pro)
|
rs770508431
|
0.00005
|
|
NM_001278116.2(L1CAM):c.400+9C>T
|
rs201057718
|
0.00005
|
|
NM_001278116.2(L1CAM):c.436G>A (p.Val146Met)
|
rs199796566
|
0.00005
|
|
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)
|
rs748459878
|
0.00005
|
|
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=)
|
rs563089155
|
0.00005
|
|
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)
|
rs5030870
|
0.00005
|
|
NM_001367624.2(ZNF469):c.356G>A (p.Arg119His)
|
rs759962057
|
0.00005
|
|
NM_001367721.1(CASK):c.42G>C (p.Leu14=)
|
rs377590077
|
0.00005
|
|
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly)
|
rs369783406
|
0.00005
|
|
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)
|
rs758513686
|
0.00005
|
|
NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys)
|
rs771222700
|
0.00005
|
|
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)
|
rs199706698
|
0.00005
|
|
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser)
|
rs558530968
|
0.00005
|
|
NM_001374828.1(ARID1B):c.407C>T (p.Ser136Leu)
|
rs1484818039
|
0.00005
|
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299
|
0.00005
|
|
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)
|
rs200432874
|
0.00005
|
|
NM_001844.5(COL2A1):c.175A>G (p.Thr59Ala)
|
rs376641474
|
0.00005
|
|
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)
|
rs148838496
|
0.00005
|
|
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)
|
rs376442872
|
0.00005
|
|
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)
|
rs886057155
|
0.00005
|
|
NM_001851.6(COL9A1):c.166+5G>A
|
rs544432669
|
0.00005
|
|
NM_002282.3(KRT83):c.828G>A (p.Met276Ile)
|
rs200274404
|
0.00005
|
|
NM_002294.3(LAMP2):c.158G>A (p.Arg53His)
|
rs397516735
|
0.00005
|
|
NM_002473.6(MYH9):c.3213C>T (p.Ile1071=)
|
rs552133535
|
0.00005
|
|
NM_002693.3(POLG):c.1311C>T (p.Val437=)
|
rs62640035
|
0.00005
|
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
|
NM_002878.4(RAD51D):c.346-10C>T
|
rs779972784
|
0.00005
|
|
NM_003036.4(SKI):c.1212-8C>T
|
rs370921440
|
0.00005
|
|
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val)
|
rs398123710
|
0.00005
|
|
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val)
|
rs372271746
|
0.00005
|
|
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln)
|
rs757300574
|
0.00005
|
|
NM_003491.4(NAA10):c.201G>C (p.Val67=)
|
rs375971315
|
0.00005
|
|
NM_003718.5(CDK13):c.4097G>A (p.Arg1366His)
|
rs3801237
|
0.00005
|
|
NM_003742.4(ABCB11):c.3214-6C>G
|
rs750991541
|
0.00005
|
|
NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg)
|
rs766977775
|
0.00005
|
|
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn)
|
rs371904636
|
0.00005
|
|
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)
|
rs373455368
|
0.00005
|
|
NM_004415.4(DSP):c.2247A>G (p.Leu749=)
|
rs28763963
|
0.00005
|
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
|
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)
|
rs751849031
|
0.00005
|
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
|
NM_004463.3(FGD1):c.2047-5C>A
|
rs368646447
|
0.00005
|
|
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile)
|
rs373950992
|
0.00005
|
|
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)
|
rs80358269
|
0.00005
|
|
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)
|
rs142551371
|
0.00005
|
|
NM_004958.4(MTOR):c.4475A>G (p.Gln1492Arg)
|
rs145440700
|
0.00005
|
|
NM_005379.4(MYO1A):c.2513C>T (p.Pro838Leu)
|
rs765830662
|
0.00005
|
|
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met)
|
rs782208622
|
0.00005
|
|
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu)
|
rs199898869
|
0.00005
|
|
NM_005751.5(AKAP9):c.6330+3A>G
|
rs771419309
|
0.00005
|
|
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)
|
rs147174580
|
0.00005
|
|
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=)
|
rs144445891
|
0.00005
|
|
NM_006231.4(POLE):c.5253C>T (p.Ala1751=)
|
rs765888059
|
0.00005
|
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
|
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe)
|
rs753575634
|
0.00005
|
|
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=)
|
rs748935500
|
0.00005
|
|
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys)
|
rs569905004
|
0.00005
|
|
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val)
|
rs199592435
|
0.00005
|
|
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)
|
rs55678461
|
0.00005
|
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
|
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met)
|
rs80357345
|
0.00005
|
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
|
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly)
|
rs80357501
|
0.00005
|
|
NM_007375.4(TARDBP):c.87C>T (p.Ser29=)
|
rs201693535
|
0.00005
|
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
|
NM_013447.4(ADGRE2):c.715C>T (p.Arg239Cys)
|
rs750767967
|
0.00005
|
|
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr)
|
rs114527197
|
0.00005
|
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
|
NM_014795.4(ZEB2):c.219C>T (p.His73=)
|
rs778851716
|
0.00005
|
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
|
NM_015559.3(SETBP1):c.1202G>A (p.Arg401Gln)
|
rs144407969
|
0.00005
|
|
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser)
|
rs1051952947
|
0.00005
|
|
NM_015629.4(PRPF31):c.138T>C (p.Asp46=)
|
rs76251057
|
0.00005
|
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
|
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met)
|
rs746796894
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)
|
rs369259434
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
|
rs201053795
|
0.00005
|
|
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)
|
rs548083258
|
0.00005
|
|
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)
|
rs371068504
|
0.00005
|
|
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)
|
rs745681787
|
0.00005
|
|
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)
|
rs755124691
|
0.00005
|
|
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)
|
rs368396893
|
0.00005
|
|
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)
|
rs773134608
|
0.00005
|
|
NM_017636.4(TRPM4):c.2712G>T (p.Val904=)
|
rs143447932
|
0.00005
|
|
NM_017636.4(TRPM4):c.657C>T (p.Asp219=)
|
rs373953725
|
0.00005
|
|
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=)
|
rs756879923
|
0.00005
|
|
NM_020297.4(ABCC9):c.1374C>T (p.Val458=)
|
rs200819464
|
0.00005
|
|
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)
|
rs371482940
|
0.00005
|
|
NM_020975.6(RET):c.3188-9C>T
|
rs551159582
|
0.00005
|
|
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)
|
rs199920661
|
0.00005
|
|
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His)
|
rs373762102
|
0.00005
|
|
NM_022124.6(CDH23):c.330C>T (p.His110=)
|
rs201232514
|
0.00005
|
|
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs)
|
rs766039450
|
0.00005
|
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
|
NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val)
|
rs753533374
|
0.00005
|
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
|
NM_030665.4(RAI1):c.2225A>G (p.Asn742Ser)
|
rs527512369
|
0.00005
|
|
NM_030787.4(CFHR5):c.1641G>A (p.Ala547=)
|
rs74323799
|
0.00005
|
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
|
NM_133379.5(TTN):c.14015C>T (p.Ala4672Val)
|
rs551658963
|
0.00005
|
|
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)
|
rs587783890
|
0.00005
|
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
|
NM_139343.3(BIN1):c.1131+9C>T
|
rs138606879
|
0.00005
|
|
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His)
|
rs372629661
|
0.00005
|
|
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)
|
rs770077517
|
0.00005
|
|
NM_152263.4(TPM3):c.327T>G (p.Thr109=)
|
rs764255899
|
0.00005
|
|
NM_152383.5(DIS3L2):c.1300G>A (p.Val434Ile)
|
rs758366698
|
0.00005
|
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
|
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met)
|
rs570139975
|
0.00005
|
|
NM_172362.3(KCNH1):c.2359G>A (p.Val787Met)
|
rs377557048
|
0.00005
|
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
|
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys)
|
rs758897129
|
0.00005
|
|
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)
|
rs369943756
|
0.00005
|
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
|
NM_000017.4(ACADS):c.663G>T (p.Gly221=)
|
rs751023929
|
0.00004
|
|
NM_000032.5(ALAS2):c.713A>T (p.Glu238Val)
|
rs137978657
|
0.00004
|
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
|
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)
|
rs373428732
|
0.00004
|
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
|
NM_000038.6(APC):c.3383C>G (p.Ser1128Cys)
|
rs755586334
|
0.00004
|
|
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)
|
rs528724202
|
0.00004
|
|
NM_000038.6(APC):c.5500G>A (p.Val1834Ile)
|
rs555944438
|
0.00004
|
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
|
NM_000038.6(APC):c.883A>G (p.Ser295Gly)
|
rs587780611
|
0.00004
|
|
NM_000038.6(APC):c.995G>A (p.Arg332Gln)
|
rs377665107
|
0.00004
|
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
|
NM_000051.4(ATM):c.6114C>T (p.His2038=)
|
rs774993357
|
0.00004
|
|
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)
|
rs80358402
|
0.00004
|
|
NM_000059.4(BRCA2):c.1070A>C (p.Glu357Ala)
|
rs587781399
|
0.00004
|
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
|
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile)
|
rs775903570
|
0.00004
|
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
|
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=)
|
rs786201327
|
0.00004
|
|
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)
|
rs80358657
|
0.00004
|
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
|
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His)
|
rs56070345
|
0.00004
|
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)
|
rs141031133
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)
|
rs752513328
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys)
|
rs138768414
|
0.00004
|
|
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln)
|
rs139945826
|
0.00004
|
|
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln)
|
rs758594181
|
0.00004
|
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00004
|
|
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)
|
rs1005244744
|
0.00004
|
|
NM_000094.4(COL7A1):c.3412G>A (p.Val1138Met)
|
rs145048666
|
0.00004
|
|
NM_000096.4(CP):c.2662-14T>C
|
rs189155564
|
0.00004
|
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
|
NM_000136.3(FANCC):c.*7C>T
|
rs372511678
|
0.00004
|
|
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
|
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)
|
rs775206410
|
0.00004
|
|
NM_000179.3(MSH6):c.1661G>A (p.Arg554His)
|
rs730881791
|
0.00004
|
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
|
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)
|
rs143036974
|
0.00004
|
|
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)
|
rs876658610
|
0.00004
|
|
NM_000186.4(CFH):c.1736T>C (p.Val579Ala)
|
rs201411537
|
0.00004
|
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
|
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val)
|
rs149366993
|
0.00004
|
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
|
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)
|
rs542831744
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys)
|
rs372583676
|
0.00004
|
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
|
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)
|
rs63750611
|
0.00004
|
|
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)
|
rs587779962
|
0.00004
|
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
|
NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)
|
rs587782567
|
0.00004
|
|
NM_000251.3(MSH2):c.891C>G (p.Ser297Arg)
|
rs551236465
|
0.00004
|
|
NM_000251.3(MSH2):c.958A>G (p.Thr320Ala)
|
rs368982417
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2149-8C>G
|
rs397515950
|
0.00004
|
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
|
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)
|
rs560471003
|
0.00004
|
|
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)
|
rs587778640
|
0.00004
|
|
NM_000321.3(RB1):c.1619G>T (p.Gly540Val)
|
rs769696726
|
0.00004
|
|
NM_000321.3(RB1):c.462G>A (p.Lys154=)
|
rs369830657
|
0.00004
|
|
NM_000321.3(RB1):c.731T>C (p.Ile244Thr)
|
rs147754935
|
0.00004
|
|
NM_000321.3(RB1):c.941T>A (p.Val314Asp)
|
rs780006952
|
0.00004
|
|
NM_000330.4(RS1):c.326+1131G>A
|
rs267608664
|
0.00004
|
|
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)
|
rs189230866
|
0.00004
|
|
NM_000335.5(SCN5A):c.435C>T (p.Cys145=)
|
rs587781159
|
0.00004
|
|
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His)
|
rs776613953
|
0.00004
|
|
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln)
|
rs201280873
|
0.00004
|
|
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)
|
rs74516571
|
0.00004
|
|
NM_000350.3(ABCA4):c.5241C>T (p.Ile1747=)
|
rs548431469
|
0.00004
|
|
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)
|
rs367862706
|
0.00004
|
|
NM_000368.5(TSC1):c.1332A>G (p.Ser444=)
|
rs773003016
|
0.00004
|
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
|
NM_000368.5(TSC1):c.3402C>T (p.Asn1134=)
|
rs769266225
|
0.00004
|
|
NM_000380.4(XPA):c.390-13A>C
|
rs373762653
|
0.00004
|
|
NM_000381.4(MID1):c.420C>G (p.Ser140=)
|
rs201845920
|
0.00004
|
|
NM_000384.3(APOB):c.166T>C (p.Tyr56His)
|
rs150496608
|
0.00004
|
|
NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg)
|
rs72653074
|
0.00004
|
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
|
NM_000391.4(TPP1):c.228C>T (p.Tyr76=)
|
rs373318861
|
0.00004
|
|
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile)
|
rs531021258
|
0.00004
|
|
NM_000410.4(HFE):c.175G>A (p.Val59Met)
|
rs111033557
|
0.00004
|
|
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met)
|
rs200160665
|
0.00004
|
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
|
NM_000455.5(STK11):c.1109-5C>T
|
rs587782020
|
0.00004
|
|
NM_000455.5(STK11):c.612C>T (p.Phe204=)
|
rs774100153
|
0.00004
|
|
NM_000465.4(BARD1):c.1473G>A (p.Gly491=)
|
rs151080730
|
0.00004
|
|
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
|
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)
|
rs587780284
|
0.00004
|
|
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)
|
rs782781078
|
0.00004
|
|
NM_000521.4(HEXB):c.1243-6T>C
|
rs759404927
|
0.00004
|
|
NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys)
|
rs200067774
|
0.00004
|
|
NM_000527.5(LDLR):c.434T>C (p.Val145Ala)
|
rs776872913
|
0.00004
|
|
NM_000527.5(LDLR):c.817+14A>G
|
rs201875602
|
0.00004
|
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
0.00004
|
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
|
NM_000545.8(HNF1A):c.1310-12C>T
|
rs193922579
|
0.00004
|
|
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)
|
rs17881470
|
0.00004
|
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
|
NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile)
|
rs770895919
|
0.00004
|
|
NM_000548.5(TSC2):c.2539C>T (p.Leu847=)
|
rs377300009
|
0.00004
|
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
|
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)
|
rs200343185
|
0.00004
|
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
|
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met)
|
rs376530064
|
0.00004
|
|
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)
|
rs369255950
|
0.00004
|
|
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)
|
rs587780881
|
0.00004
|
|
NM_000751.3(CHRND):c.1252+10C>T
|
rs373581541
|
0.00004
|
|
NM_000814.6(GABRB3):c.241-7465G>A
|
rs990895163
|
0.00004
|
|
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)
|
rs766143485
|
0.00004
|
|
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val)
|
rs150326473
|
0.00004
|
|
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)
|
rs200075817
|
0.00004
|
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
|
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469
|
0.00004
|
|
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys)
|
rs563259179
|
0.00004
|
|
NM_001005498.4(RHBDF2):c.1912G>A (p.Val638Met)
|
rs575187651
|
0.00004
|
|
NM_001012338.3(NTRK3):c.278C>T (p.Thr93Met)
|
rs147992979
|
0.00004
|
|
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)
|
rs185482345
|
0.00004
|
|
NM_001040108.2(MLH3):c.2373G>A (p.Leu791=)
|
rs764724825
|
0.00004
|
|
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=)
|
rs565238806
|
0.00004
|
|
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=)
|
rs587781156
|
0.00004
|
|
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln)
|
rs770801747
|
0.00004
|
|
NM_001040716.2(PC):c.879C>T (p.Ser293=)
|
rs183131461
|
0.00004
|
|
NM_001042424.3(NSD2):c.11G>A (p.Ser4Asn)
|
rs753120179
|
0.00004
|
|
NM_001042492.3(NF1):c.2991-4A>G
|
rs754414489
|
0.00004
|
|
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val)
|
rs773968270
|
0.00004
|
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
|
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile)
|
rs148540952
|
0.00004
|
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
|
NM_001080414.4(CCDC88C):c.809+7C>T
|
rs575390201
|
0.00004
|
|
NM_001100913.3(PACS2):c.1072C>T (p.Arg358Trp)
|
rs1488845742
|
0.00004
|
|
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=)
|
rs782006734
|
0.00004
|
|
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)
|
rs782426283
|
0.00004
|
|
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser)
|
rs201871183
|
0.00004
|
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
|
NM_001110792.2(MECP2):c.750G>A (p.Gly250=)
|
rs369813305
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys)
|
rs781830206
|
0.00004
|
|
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)
|
rs764931697
|
0.00004
|
|
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)
|
rs762486621
|
0.00004
|
|
NM_001134363.3(RBM20):c.1338-11G>A
|
rs372064165
|
0.00004
|
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
|
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg)
|
rs541043583
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.3427G>A (p.Glu1143Lys)
|
rs61758996
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met)
|
rs775326454
|
0.00004
|
|
NM_001148.6(ANK2):c.1773T>C (p.Ser591=)
|
rs374775005
|
0.00004
|
|
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00004
|
|
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met)
|
rs775362248
|
0.00004
|
|
NM_001164508.2(NEB):c.11763G>A (p.Pro3921=)
|
rs554366790
|
0.00004
|
|
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val)
|
rs761829162
|
0.00004
|
|
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly)
|
rs747282707
|
0.00004
|
|
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)
|
rs201291446
|
0.00004
|
|
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln)
|
rs368642083
|
0.00004
|
|
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu)
|
rs777231395
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
|
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser)
|
rs796052790
|
0.00004
|
|
NM_001190274.2(FBXO11):c.2458A>G (p.Met820Val)
|
rs747122948
|
0.00004
|
|
NM_001190274.2(FBXO11):c.94C>G (p.Pro32Ala)
|
rs915976035
|
0.00004
|
|
NM_001197104.2(KMT2A):c.7255G>A (p.Glu2419Lys)
|
rs782181274
|
0.00004
|
|
NM_001199397.3(NEK1):c.2587+14G>T
|
rs368032168
|
0.00004
|
|
NM_001205293.3(CACNA1E):c.6122G>A (p.Arg2041Gln)
|
rs748537145
|
0.00004
|
|
NM_001252024.2(TRPM1):c.1285C>A (p.Pro429Thr)
|
rs374376006
|
0.00004
|
|
NM_001256545.2(MEGF10):c.1800C>T (p.Cys600=)
|
rs528654275
|
0.00004
|
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
|
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)
|
rs376820575
|
0.00004
|
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
|
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)
|
rs368155350
|
0.00004
|
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
|
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)
|
rs376188859
|
0.00004
|
|
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)
|
rs397517636
|
0.00004
|
|
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=)
|
rs545556079
|
0.00004
|
|
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)
|
rs748292845
|
0.00004
|
|
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=)
|
rs747423090
|
0.00004
|
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
|
NM_001267550.2(TTN):c.90237C>T (p.His30079=)
|
rs756663688
|
0.00004
|
|
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)
|
rs587780987
|
0.00004
|
|
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)
|
rs370160870
|
0.00004
|
|
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr)
|
rs747794466
|
0.00004
|
|
NM_001276345.2(TNNT2):c.601-7G>A
|
rs369759523
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
|
NM_001277115.2(DNAH11):c.11254G>A (p.Asp3752Asn)
|
rs370395919
|
0.00004
|
|
NM_001277115.2(DNAH11):c.11363T>C (p.Met3788Thr)
|
rs374799169
|
0.00004
|
|
NM_001277115.2(DNAH11):c.11695T>G (p.Phe3899Val)
|
rs751430515
|
0.00004
|
|
NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met)
|
rs751059559
|
0.00004
|
|
NM_001277115.2(DNAH11):c.168C>G (p.Asp56Glu)
|
rs978373825
|
0.00004
|
|
NM_001277115.2(DNAH11):c.2248T>G (p.Phe750Val)
|
rs776959465
|
0.00004
|
|
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg)
|
rs745305844
|
0.00004
|
|
NM_001277115.2(DNAH11):c.3263T>C (p.Ile1088Thr)
|
rs755583135
|
0.00004
|
|
NM_001277115.2(DNAH11):c.4944+6del
|
rs531049764
|
0.00004
|
|
NM_001277115.2(DNAH11):c.5241A>G (p.Gln1747=)
|
rs372802443
|
0.00004
|
|
NM_001277115.2(DNAH11):c.5296G>A (p.Glu1766Lys)
|
rs371235859
|
0.00004
|
|
NM_001277115.2(DNAH11):c.5669C>G (p.Ala1890Gly)
|
rs772740368
|
0.00004
|
|
NM_001277115.2(DNAH11):c.5702A>C (p.Glu1901Ala)
|
rs750672801
|
0.00004
|
|
NM_001277115.2(DNAH11):c.5991G>A (p.Pro1997=)
|
rs763685245
|
0.00004
|
|
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met)
|
rs375341444
|
0.00004
|
|
NM_001277115.2(DNAH11):c.6847G>A (p.Ala2283Thr)
|
rs372264255
|
0.00004
|
|
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu)
|
rs776376992
|
0.00004
|
|
NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met)
|
rs760409547
|
0.00004
|
|
NM_001277115.2(DNAH11):c.8699G>A (p.Arg2900Gln)
|
rs534013804
|
0.00004
|
|
NM_001277115.2(DNAH11):c.8878A>G (p.Met2960Val)
|
rs766857244
|
0.00004
|
|
NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys)
|
rs769695221
|
0.00004
|
|
NM_001277115.2(DNAH11):c.9745G>A (p.Asp3249Asn)
|
rs537824201
|
0.00004
|
|
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)
|
rs781908326
|
0.00004
|
|
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln)
|
rs200809259
|
0.00004
|
|
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=)
|
rs587781101
|
0.00004
|
|
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)
|
rs375478086
|
0.00004
|
|
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr)
|
rs121908918
|
0.00004
|
|
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
|
rs769092155
|
0.00004
|
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
|
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys)
|
rs143673459
|
0.00004
|
|
NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala)
|
rs138222058
|
0.00004
|
|
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=)
|
rs375561333
|
0.00004
|
|
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=)
|
rs200280309
|
0.00004
|
|
NM_001370259.2(MEN1):c.784-10C>T
|
rs71526470
|
0.00004
|
|
NM_001371928.1(AHDC1):c.2182C>T (p.Arg728Trp)
|
rs201595662
|
0.00004
|
|
NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp)
|
rs371337420
|
0.00004
|
|
NM_001374828.1(ARID1B):c.3266C>T (p.Pro1089Leu)
|
rs540277176
|
0.00004
|
|
NM_001376256.1(CRYM):c.343A>G (p.Ile115Val)
|
rs201490017
|
0.00004
|
|
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)
|
rs199626531
|
0.00004
|
|
NM_001378452.1(ITPR1):c.1554+3C>T
|
rs781141738
|
0.00004
|
|
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser)
|
rs760608076
|
0.00004
|
|
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)
|
rs373453298
|
0.00004
|
|
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)
|
rs374592247
|
0.00004
|
|
NM_001614.5(ACTG1):c.81C>T (p.Pro27=)
|
rs11549230
|
0.00004
|
|
NM_001830.4(CLCN4):c.822C>T (p.Gly274=)
|
rs748967139
|
0.00004
|
|
NM_001844.5(COL2A1):c.2368C>T (p.Pro790Ser)
|
rs1306517572
|
0.00004
|
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
|
NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser)
|
rs200621622
|
0.00004
|
|
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr)
|
rs150428394
|
0.00004
|
|
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met)
|
rs770162224
|
0.00004
|
|
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His)
|
rs148464130
|
0.00004
|
|
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn)
|
rs397516701
|
0.00004
|
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
|
NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp)
|
rs202091014
|
0.00004
|
|
NM_002294.3(LAMP2):c.-7C>T
|
rs762305947
|
0.00004
|
|
NM_002294.3(LAMP2):c.929-5T>C
|
rs375341409
|
0.00004
|
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
|
NM_002397.5(MEF2C):c.1332C>T (p.His444=)
|
rs376439815
|
0.00004
|
|
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)
|
rs137924205
|
0.00004
|
|
NM_002474.3(MYH11):c.1575+7G>A
|
rs754750176
|
0.00004
|
|
NM_002485.5(NBN):c.-10A>T
|
rs759094270
|
0.00004
|
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
|
NM_002524.5(NRAS):c.291-8G>A
|
rs376187980
|
0.00004
|
|
NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn)
|
rs777866589
|
0.00004
|
|
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)
|
rs765981178
|
0.00004
|
|
NM_002693.3(POLG):c.2487C>T (p.Pro829=)
|
rs147563527
|
0.00004
|
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
|
NM_003098.3(SNTA1):c.1033G>A (p.Ala345Thr)
|
rs150474420
|
0.00004
|
|
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val)
|
rs372740284
|
0.00004
|
|
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met)
|
rs35087111
|
0.00004
|
|
NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp)
|
rs777638253
|
0.00004
|
|
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys)
|
rs398123714
|
0.00004
|
|
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser)
|
rs779247029
|
0.00004
|
|
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr)
|
rs767232021
|
0.00004
|
|
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser)
|
rs376911077
|
0.00004
|
|
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu)
|
rs779629382
|
0.00004
|
|
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met)
|
rs760263014
|
0.00004
|
|
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)
|
rs537930129
|
0.00004
|
|
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr)
|
rs138832017
|
0.00004
|
|
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser)
|
rs779096015
|
0.00004
|
|
NM_003846.3(PEX11B):c.374+9T>C
|
rs200094067
|
0.00004
|
|
NM_003850.3(SUCLA2):c.1074A>C (p.Thr358=)
|
rs746516356
|
0.00004
|
|
NM_003982.4(SLC7A7):c.1246-12C>T
|
rs573454071
|
0.00004
|
|
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)
|
rs398123931
|
0.00004
|
|
NM_004281.4(BAG3):c.181-15C>T
|
rs397516882
|
0.00004
|
|
NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=)
|
rs199557273
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)
|
rs587781332
|
0.00004
|
|
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu)
|
rs368595543
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val)
|
rs376651641
|
0.00004
|
|
NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser)
|
rs375165807
|
0.00004
|
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
|
NM_004360.5(CDH1):c.-63C>A
|
rs572272864
|
0.00004
|
|
NM_004360.5(CDH1):c.2165-15C>A
|
rs552874184
|
0.00004
|
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
|
NM_004393.6(DAG1):c.219C>T (p.Val73=)
|
rs145165301
|
0.00004
|
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
|
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)
|
rs397516928
|
0.00004
|
|
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)
|
rs374263890
|
0.00004
|
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
|
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)
|
rs777664260
|
0.00004
|
|
NM_004817.4(TJP2):c.2751C>T (p.Arg917=)
|
rs184519036
|
0.00004
|
|
NM_004974.4(KCNA2):c.972C>T (p.Ser324=)
|
rs765820644
|
0.00004
|
|
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln)
|
rs144277716
|
0.00004
|
|
NM_005045.4(RELN):c.1690C>A (p.Leu564Ile)
|
rs748901010
|
0.00004
|
|
NM_005188.4(CBL):c.195+3G>A
|
rs762062705
|
0.00004
|
|
NM_005343.4(HRAS):c.36C>T (p.Gly12=)
|
rs727504424
|
0.00004
|
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
0.00004
|
|
NM_005458.8(GABBR2):c.613G>A (p.Val205Ile)
|
rs146801036
|
0.00004
|
|
NM_005461.5(MAFB):c.393C>A (p.His131Gln)
|
rs121912307
|
0.00004
|
|
NM_005502.4(ABCA1):c.3757G>A (p.Glu1253Lys)
|
rs138056193
|
0.00004
|
|
NM_005559.4(LAMA1):c.4618G>A (p.Asp1540Asn)
|
rs373453681
|
0.00004
|
|
NM_006164.5(NFE2L2):c.1163T>C (p.Val388Ala)
|
rs772306849
|
0.00004
|
|
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His)
|
rs367759638
|
0.00004
|
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
|
NM_006245.4(PPP2R5D):c.271C>T (p.Arg91Cys)
|
rs750265500
|
0.00004
|
|
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=)
|
rs267599808
|
0.00004
|
|
NM_006514.4(SCN10A):c.349A>C (p.Asn117His)
|
rs774462243
|
0.00004
|
|
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)
|
rs55693364
|
0.00004
|
|
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met)
|
rs201039304
|
0.00004
|
|
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)
|
rs749376396
|
0.00004
|
|
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)
|
rs935249167
|
0.00004
|
|
NM_006941.4(SOX10):c.826G>A (p.Val276Met)
|
rs766175657
|
0.00004
|
|
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp)
|
rs761960627
|
0.00004
|
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
0.00004
|
|
NM_007294.4(BRCA1):c.-19-3A>G
|
rs273898669
|
0.00004
|
|
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)
|
rs56272539
|
0.00004
|
|
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met)
|
rs80357374
|
0.00004
|
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
|
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)
|
rs80356874
|
0.00004
|
|
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)
|
rs80356955
|
0.00004
|
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
|
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys)
|
rs80357407
|
0.00004
|
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
|
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His)
|
rs80357022
|
0.00004
|
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
|
NM_007294.4(BRCA1):c.4676-8C>G
|
rs80358021
|
0.00004
|
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
|
NM_007315.4(STAT1):c.1727+13G>A
|
rs377146580
|
0.00004
|
|
NM_012418.4(FSCN2):c.1104C>T (p.Val368=)
|
rs751919154
|
0.00004
|
|
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=)
|
rs145162968
|
0.00004
|
|
NM_014141.6(CNTNAP2):c.3716-6C>G
|
rs77025884
|
0.00004
|
|
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)
|
rs536675517
|
0.00004
|
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
|
NM_014363.6(SACS):c.12367A>G (p.Met4123Val)
|
rs772068772
|
0.00004
|
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
|
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
|
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=)
|
rs368713443
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=)
|
rs376913055
|
0.00004
|
|
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603
|
0.00004
|
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)
|
rs199505287
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)
|
rs200871631
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)
|
rs751874720
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met)
|
rs35652719
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)
|
rs770713134
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)
|
rs763902589
|
0.00004
|
|
NM_017649.5(CNNM2):c.801C>T (p.Cys267=)
|
rs367789750
|
0.00004
|
|
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)
|
rs201998680
|
0.00004
|
|
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)
|
rs554737227
|
0.00004
|
|
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
|
rs751726519
|
0.00004
|
|
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser)
|
rs587783439
|
0.00004
|
|
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=)
|
rs191081055
|
0.00004
|
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00004
|
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
|
NM_018418.5(SPATA7):c.913-14T>A
|
rs185459765
|
0.00004
|
|
NM_018451.5(CENPJ):c.865+12dup
|
rs202014808
|
0.00004
|
|
NM_018668.5(VPS33B):c.1170+5G>A
|
rs201431055
|
0.00004
|
|
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)
|
rs371138642
|
0.00004
|
|
NM_019842.4(KCNQ5):c.1312C>G (p.Arg438Gly)
|
rs750114221
|
0.00004
|
|
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=)
|
rs372301689
|
0.00004
|
|
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met)
|
rs369383271
|
0.00004
|
|
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys)
|
rs528341556
|
0.00004
|
|
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His)
|
rs747807971
|
0.00004
|
|
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg)
|
rs768565046
|
0.00004
|
|
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys)
|
rs371324992
|
0.00004
|
|
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu)
|
rs753159318
|
0.00004
|
|
NM_021098.3(CACNA1H):c.3526G>A (p.Asp1176Asn)
|
rs61294616
|
0.00004
|
|
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp)
|
rs372472186
|
0.00004
|
|
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His)
|
rs749122105
|
0.00004
|
|
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln)
|
rs772785163
|
0.00004
|
|
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys)
|
rs768826048
|
0.00004
|
|
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg)
|
rs369329819
|
0.00004
|
|
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)
|
rs200839584
|
0.00004
|
|
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)
|
rs772557416
|
0.00004
|
|
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu)
|
rs369779779
|
0.00004
|
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00004
|
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
|
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln)
|
rs373174786
|
0.00004
|
|
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro)
|
rs182595609
|
0.00004
|
|
NM_030665.4(RAI1):c.1729G>A (p.Gly577Ser)
|
rs141458634
|
0.00004
|
|
NM_030665.4(RAI1):c.1867G>A (p.Asp623Asn)
|
rs148619631
|
0.00004
|
|
NM_030665.4(RAI1):c.1960G>A (p.Ala654Thr)
|
rs749791172
|
0.00004
|
|
NM_030665.4(RAI1):c.1979G>A (p.Arg660Gln)
|
rs377537260
|
0.00004
|
|
NM_030665.4(RAI1):c.2074G>A (p.Val692Met)
|
rs398124415
|
0.00004
|
|
NM_030665.4(RAI1):c.295G>A (p.Gly99Ser)
|
rs146679063
|
0.00004
|
|
NM_030665.4(RAI1):c.2965A>G (p.Lys989Glu)
|
rs993240093
|
0.00004
|
|
NM_030665.4(RAI1):c.3479G>A (p.Arg1160Gln)
|
rs764373875
|
0.00004
|
|
NM_030665.4(RAI1):c.3761A>G (p.Asn1254Ser)
|
rs141204901
|
0.00004
|
|
NM_030665.4(RAI1):c.4258T>C (p.Ser1420Pro)
|
rs1446366935
|
0.00004
|
|
NM_030665.4(RAI1):c.4532C>T (p.Pro1511Leu)
|
rs548056226
|
0.00004
|
|
NM_030665.4(RAI1):c.4936G>A (p.Gly1646Arg)
|
rs143029873
|
0.00004
|
|
NM_030665.4(RAI1):c.5243C>T (p.Ala1748Val)
|
rs199929703
|
0.00004
|
|
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu)
|
rs782526786
|
0.00004
|
|
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val)
|
rs200962317
|
0.00004
|
|
NM_032119.4(ADGRV1):c.2660A>G (p.His887Arg)
|
rs560889543
|
0.00004
|
|
NM_032977.4(CASP10):c.20A>G (p.His7Arg)
|
rs200935960
|
0.00004
|
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
|
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser)
|
rs757653472
|
0.00004
|
|
NM_053025.4(MYLK):c.2124C>T (p.Ala708=)
|
rs372939794
|
0.00004
|
|
NM_053025.4(MYLK):c.2733G>A (p.Ser911=)
|
rs200117191
|
0.00004
|
|
NM_053025.4(MYLK):c.993G>A (p.Thr331=)
|
rs55932343
|
0.00004
|
|
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val)
|
rs143965711
|
0.00004
|
|
NM_080680.3(COL11A2):c.4027G>A (p.Ala1343Thr)
|
rs759017753
|
0.00004
|
|
NM_080680.3(COL11A2):c.4399G>T (p.Ala1467Ser)
|
rs779385536
|
0.00004
|
|
NM_130837.3(OPA1):c.1094A>G (p.Gln365Arg)
|
rs770966290
|
0.00004
|
|
NM_130837.3(OPA1):c.619G>A (p.Glu207Lys)
|
rs569675223
|
0.00004
|
|
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)
|
rs141984760
|
0.00004
|
|
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)
|
rs150837768
|
0.00004
|
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
|
NM_152263.4(TPM3):c.495+7G>C
|
rs749792884
|
0.00004
|
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
|
NM_152564.5(VPS13B):c.1425+9G>A
|
rs551460373
|
0.00004
|
|
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu)
|
rs144668374
|
0.00004
|
|
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=)
|
rs146650383
|
0.00004
|
|
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu)
|
rs149546014
|
0.00004
|
|
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser)
|
rs199566869
|
0.00004
|
|
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)
|
rs139075013
|
0.00004
|
|
NM_183381.3(RNF13):c.43G>A (p.Val15Ile)
|
rs140665765
|
0.00004
|
|
NM_198334.3(GANAB):c.2569C>T (p.Arg857Cys)
|
rs777546492
|
0.00004
|
|
NM_198407.2(GHSR):c.231C>G (p.Thr77=)
|
rs202000049
|
0.00004
|
|
NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met)
|
rs200002022
|
0.00004
|
|
NM_198904.4(GABRG2):c.632-1212C>T
|
rs587780948
|
0.00004
|
|
NM_199242.3(UNC13D):c.2554-13A>G
|
rs533490795
|
0.00004
|
|
NM_199242.3(UNC13D):c.569+10C>T
|
rs368069154
|
0.00004
|
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
|
NM_000018.4(ACADVL):c.1605+7G>A
|
rs572010910
|
0.00003
|
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
|
NM_000038.6(APC):c.1557A>G (p.Leu519=)
|
rs765537673
|
0.00003
|
|
NM_000038.6(APC):c.2090C>T (p.Ala697Val)
|
rs761733547
|
0.00003
|
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
|
NM_000038.6(APC):c.385G>C (p.Glu129Gln)
|
rs376628500
|
0.00003
|
|
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg)
|
rs766739164
|
0.00003
|
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
|
NM_000038.6(APC):c.7150T>A (p.Leu2384Ile)
|
rs755345693
|
0.00003
|
|
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)
|
rs730881257
|
0.00003
|
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
|
NM_000044.6(AR):c.2659A>G (p.Met887Val)
|
rs755226547
|
0.00003
|
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
rs80358448
|
0.00003
|
|
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)
|
rs80358457
|
0.00003
|
|
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys)
|
rs80358606
|
0.00003
|
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00003
|
|
NM_000059.4(BRCA2):c.632-16A>C
|
rs81002905
|
0.00003
|
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
|
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)
|
rs45469092
|
0.00003
|
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
rs80359177
|
0.00003
|
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
rs80359194
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
|
rs200844059
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met)
|
rs373701906
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)
|
rs149658326
|
0.00003
|
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
|
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=)
|
rs755731385
|
0.00003
|
|
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=)
|
rs373963384
|
0.00003
|
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
|
NM_000159.4(GCDH):c.38G>A (p.Arg13His)
|
rs550100640
|
0.00003
|
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00003
|
|
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr)
|
rs779993828
|
0.00003
|
|
NM_000179.3(MSH6):c.*10A>C
|
rs757778351
|
0.00003
|
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
|
NM_000179.3(MSH6):c.1505T>C (p.Ile502Thr)
|
rs749012012
|
0.00003
|
|
NM_000179.3(MSH6):c.1525G>C (p.Val509Leu)
|
rs876660317
|
0.00003
|
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
|
NM_000179.3(MSH6):c.229C>T (p.Arg77Trp)
|
rs745442468
|
0.00003
|
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
|
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)
|
rs372705506
|
0.00003
|
|
NM_000179.3(MSH6):c.3303G>T (p.Lys1101Asn)
|
rs370353868
|
0.00003
|
|
NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu)
|
rs63750554
|
0.00003
|
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
|
NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)
|
rs542848931
|
0.00003
|
|
NM_000186.4(CFH):c.770G>A (p.Arg257His)
|
rs140107330
|
0.00003
|
|
NM_000199.5(SGSH):c.633C>A (p.Thr211=)
|
rs187147954
|
0.00003
|
|
NM_000207.3(INS):c.130G>A (p.Gly44Arg)
|
rs765512575
|
0.00003
|
|
NM_000212.3(ITGB3):c.1297C>G (p.Pro433Ala)
|
rs121918448
|
0.00003
|
|
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)
|
rs373394254
|
0.00003
|
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
|
NM_000243.3(MEFV):c.1779T>A (p.Ala593=)
|
rs377657099
|
0.00003
|
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
0.00003
|
|
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)
|
rs557339938
|
0.00003
|
|
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)
|
rs730881756
|
0.00003
|
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
|
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)
|
rs267608016
|
0.00003
|
|
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)
|
rs747700106
|
0.00003
|
|
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)
|
rs587781453
|
0.00003
|
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
|
NM_000251.3(MSH2):c.399C>T (p.Asp133=)
|
rs61756462
|
0.00003
|
|
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)
|
rs587781795
|
0.00003
|
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
|
NM_000251.3(MSH2):c.817G>A (p.Val273Ile)
|
rs530814648
|
0.00003
|
|
NM_000251.3(MSH2):c.874A>T (p.Thr292Ser)
|
rs104895022
|
0.00003
|
|
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)
|
rs63750732
|
0.00003
|
|
NM_000257.4(MYH7):c.1632C>T (p.Thr544=)
|
rs587781089
|
0.00003
|
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
|
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)
|
rs753002023
|
0.00003
|
|
NM_000266.4(NDP):c.269G>A (p.Arg90His)
|
rs104894867
|
0.00003
|
|
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
|
rs142459706
|
0.00003
|
|
NM_000307.5(POU3F4):c.588G>C (p.Gln196His)
|
rs770776910
|
0.00003
|
|
NM_000314.8(PTEN):c.-799G>C
|
rs587779992
|
0.00003
|
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
|
NM_000321.3(RB1):c.1859C>T (p.Thr620Met)
|
rs554834063
|
0.00003
|
|
NM_000330.4(RS1):c.234G>A (p.Pro78=)
|
rs183092299
|
0.00003
|
|
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)
|
rs527236149
|
0.00003
|
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
|
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)
|
rs571740084
|
0.00003
|
|
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)
|
rs372257088
|
0.00003
|
|
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
|
rs540122589
|
0.00003
|
|
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=)
|
rs372186045
|
0.00003
|
|
NM_000352.6(ABCC8):c.413-15A>G
|
rs758744263
|
0.00003
|
|
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)
|
rs397514808
|
0.00003
|
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
|
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)
|
rs770692313
|
0.00003
|
|
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg)
|
rs1433723046
|
0.00003
|
|
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)
|
rs200398750
|
0.00003
|
|
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)
|
rs202121327
|
0.00003
|
|
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly)
|
rs768443391
|
0.00003
|
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
|
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln)
|
rs755859330
|
0.00003
|
|
NM_000371.4(TTR):c.-15C>T
|
rs746692906
|
0.00003
|
|
NM_000384.3(APOB):c.13448C>T (p.Ala4483Val)
|
rs147416761
|
0.00003
|
|
NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu)
|
rs768045701
|
0.00003
|
|
NM_000384.3(APOB):c.655C>T (p.Arg219Cys)
|
rs145661815
|
0.00003
|
|
NM_000384.3(APOB):c.6731G>A (p.Ser2244Asn)
|
rs146333152
|
0.00003
|
|
NM_000426.4(LAMA2):c.5688C>T (p.His1896=)
|
rs573779258
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
|
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met)
|
rs371825581
|
0.00003
|
|
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)
|
rs202178897
|
0.00003
|
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
|
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)
|
rs372617572
|
0.00003
|
|
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr)
|
rs1340328179
|
0.00003
|
|
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met)
|
rs782757975
|
0.00003
|
|
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)
|
rs1064796745
|
0.00003
|
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676
|
0.00003
|
|
NM_000527.5(LDLR):c.1221C>T (p.His407=)
|
rs778424518
|
0.00003
|
|
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala)
|
rs780300776
|
0.00003
|
|
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=)
|
rs199828145
|
0.00003
|
|
NM_000546.6(TP53):c.1120G>C (p.Gly374Arg)
|
rs587781858
|
0.00003
|
|
NM_000546.6(TP53):c.920-5C>T
|
rs34361146
|
0.00003
|
|
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)
|
rs587778729
|
0.00003
|
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
|
NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe)
|
rs991714565
|
0.00003
|
|
NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp)
|
rs397514887
|
0.00003
|
|
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val)
|
rs397514901
|
0.00003
|
|
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met)
|
rs373481458
|
0.00003
|
|
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp)
|
rs1200837034
|
0.00003
|
|
NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp)
|
rs904411432
|
0.00003
|
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
|
NM_000548.5(TSC2):c.775-5C>T
|
rs181827303
|
0.00003
|
|
NM_000548.5(TSC2):c.828G>A (p.Met276Ile)
|
rs1318274503
|
0.00003
|
|
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile)
|
rs17847568
|
0.00003
|
|
NM_000554.6(CRX):c.460A>G (p.Thr154Ala)
|
rs763651232
|
0.00003
|
|
NM_000601.6(HGF):c.1765G>A (p.Val589Ile)
|
rs538415452
|
0.00003
|
|
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr)
|
rs377165829
|
0.00003
|
|
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)
|
rs754527651
|
0.00003
|
|
NM_000719.7(CACNA1C):c.3946-45C>G
|
rs201551454
|
0.00003
|
|
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser)
|
rs533676935
|
0.00003
|
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
|
NM_000812.4(GABRB1):c.1041T>G (p.Ser347Arg)
|
rs780621488
|
0.00003
|
|
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His)
|
rs201982602
|
0.00003
|
|
NM_000834.5(GRIN2B):c.4077C>T (p.Ala1359=)
|
rs375217280
|
0.00003
|
|
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr)
|
rs375646186
|
0.00003
|
|
NM_001005361.3(DNM2):c.890G>A (p.Arg297His)
|
rs763894364
|
0.00003
|
|
NM_001008537.3(NEXMIF):c.1119G>C (p.Trp373Cys)
|
rs780581302
|
0.00003
|
|
NM_001008537.3(NEXMIF):c.1161G>C (p.Glu387Asp)
|
rs762881063
|
0.00003
|
|
NM_001008537.3(NEXMIF):c.2432C>T (p.Pro811Leu)
|
rs750889767
|
0.00003
|
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
|
NM_001035.3(RYR2):c.8515-7A>G
|
rs766622060
|
0.00003
|
|
NM_001037333.3(CYFIP2):c.294C>T (p.Cys98=)
|
rs368093712
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=)
|
rs529842407
|
0.00003
|
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
|
NM_001083962.2(TCF4):c.903C>T (p.Asn301=)
|
rs781392344
|
0.00003
|
|
NM_001100913.3(PACS2):c.1379C>T (p.Pro460Leu)
|
rs587775302
|
0.00003
|
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
|
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=)
|
rs188212919
|
0.00003
|
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
|
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)
|
rs781864075
|
0.00003
|
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
|
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)
|
rs267608440
|
0.00003
|
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
|
NM_001127511.3(APC):c.130G>A (p.Ala44Thr)
|
rs367773779
|
0.00003
|
|
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)
|
rs200218956
|
0.00003
|
|
NM_001128126.3(AP4S1):c.124C>A (p.Arg42=)
|
rs387906970
|
0.00003
|
|
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys)
|
rs565524160
|
0.00003
|
|
NM_001144967.3(NEDD4L):c.2093A>G (p.Asn698Ser)
|
rs377143286
|
0.00003
|
|
NM_001164508.2(NEB):c.12210C>G (p.Ala4070=)
|
rs749556191
|
0.00003
|
|
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=)
|
rs753253128
|
0.00003
|
|
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His)
|
rs781020561
|
0.00003
|
|
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser)
|
rs775756899
|
0.00003
|
|
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu)
|
rs571935637
|
0.00003
|
|
NM_001164508.2(NEB):c.3399A>G (p.Thr1133=)
|
rs543961404
|
0.00003
|
|
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val)
|
rs201940342
|
0.00003
|
|
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val)
|
rs779481792
|
0.00003
|
|
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala)
|
rs578023308
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.232+14G>A
|
rs199727584
|
0.00003
|
|
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala)
|
rs377097035
|
0.00003
|
|
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln)
|
rs183648123
|
0.00003
|
|
NM_001197104.2(KMT2A):c.6590G>A (p.Arg2197His)
|
rs370899148
|
0.00003
|
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00003
|
|
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)
|
rs756282138
|
0.00003
|
|
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)
|
rs1455525236
|
0.00003
|
|
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala)
|
rs752204728
|
0.00003
|
|
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)
|
rs541040798
|
0.00003
|
|
NM_001267550.2(TTN):c.98098+3G>A
|
rs556524594
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10641A>G (p.Ile3547Met)
|
rs368052967
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1084G>A (p.Ala362Thr)
|
rs771256529
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12100C>G (p.Pro4034Ala)
|
rs759056367
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1794G>T (p.Met598Ile)
|
rs573727689
|
0.00003
|
|
NM_001277115.2(DNAH11):c.179G>C (p.Arg60Pro)
|
rs757349371
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4891G>A (p.Val1631Ile)
|
rs766901693
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4926A>C (p.Lys1642Asn)
|
rs770520414
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala)
|
rs369965539
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro)
|
rs772070316
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6089T>C (p.Leu2030Ser)
|
rs769169485
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8516G>A (p.Arg2839His)
|
rs1253630975
|
0.00003
|
|
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn)
|
rs148516831
|
0.00003
|
|
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)
|
rs201481698
|
0.00003
|
|
NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=)
|
rs200464704
|
0.00003
|
|
NM_001348800.3(ZBTB20):c.1366G>C (p.Val456Leu)
|
rs145364827
|
0.00003
|
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
|
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val)
|
rs746338306
|
0.00003
|
|
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys)
|
rs76106850
|
0.00003
|
|
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys)
|
rs565819640
|
0.00003
|
|
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)
|
rs576096758
|
0.00003
|
|
NM_001369.3(DNAH5):c.12857G>A (p.Gly4286Glu)
|
rs185104576
|
0.00003
|
|
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)
|
rs749315126
|
0.00003
|
|
NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser)
|
rs151115781
|
0.00003
|
|
NM_001374828.1(ARID1B):c.5325G>T (p.Thr1775=)
|
rs146620657
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
|
NM_001378418.1(TCF20):c.2887G>A (p.Gly963Ser)
|
rs200854743
|
0.00003
|
|
NM_001379110.1(SLC9A6):c.-16C>T
|
rs139299794
|
0.00003
|
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
|
NM_001429.4(EP300):c.2572A>G (p.Thr858Ala)
|
rs201030855
|
0.00003
|
|
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile)
|
rs754168978
|
0.00003
|
|
NM_001429.4(EP300):c.952C>G (p.Pro318Ala)
|
rs762647727
|
0.00003
|
|
NM_001457.4(FLNB):c.3265G>A (p.Asp1089Asn)
|
rs369045614
|
0.00003
|
|
NM_001609.4(ACADSB):c.1128+3A>T
|
rs760423996
|
0.00003
|
|
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=)
|
rs201121917
|
0.00003
|
|
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe)
|
rs1482498887
|
0.00003
|
|
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)
|
rs778382364
|
0.00003
|
|
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser)
|
rs1400762548
|
0.00003
|
|
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr)
|
rs371445823
|
0.00003
|
|
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)
|
rs200786329
|
0.00003
|
|
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)
|
rs769021800
|
0.00003
|
|
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)
|
rs375318905
|
0.00003
|
|
NM_001854.4(COL11A1):c.1147T>A (p.Phe383Ile)
|
rs368746938
|
0.00003
|
|
NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys)
|
rs756352775
|
0.00003
|
|
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser)
|
rs370988085
|
0.00003
|
|
NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr)
|
rs769920499
|
0.00003
|
|
NM_001854.4(COL11A1):c.5119C>T (p.Arg1707Trp)
|
rs757608461
|
0.00003
|
|
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn)
|
rs370509593
|
0.00003
|
|
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)
|
rs576404380
|
0.00003
|
|
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)
|
rs200440156
|
0.00003
|
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
|
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp)
|
rs727503281
|
0.00003
|
|
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn)
|
rs369751362
|
0.00003
|
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
|
NM_002778.4(PSAP):c.*9A>G
|
rs376628499
|
0.00003
|
|
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)
|
rs188854022
|
0.00003
|
|
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn)
|
rs201463616
|
0.00003
|
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
|
NM_003465.3(CHIT1):c.1099G>A (p.Gly367Ser)
|
rs752379824
|
0.00003
|
|
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe)
|
rs774148221
|
0.00003
|
|
NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile)
|
rs200638996
|
0.00003
|
|
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln)
|
rs774403945
|
0.00003
|
|
NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln)
|
rs369794887
|
0.00003
|
|
NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val)
|
rs764604229
|
0.00003
|
|
NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu)
|
rs765654409
|
0.00003
|
|
NM_003803.4(MYOM1):c.3038C>T (p.Ala1013Val)
|
rs557671408
|
0.00003
|
|
NM_003839.4(TNFRSF11A):c.1340C>T (p.Thr447Ile)
|
rs776173779
|
0.00003
|
|
NM_004006.3(DMD):c.3419A>G (p.His1140Arg)
|
rs201297190
|
0.00003
|
|
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=)
|
rs374533122
|
0.00003
|
|
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu)
|
rs567733221
|
0.00003
|
|
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser)
|
rs587778112
|
0.00003
|
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00003
|
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
|
NM_004360.5(CDH1):c.671G>A (p.Arg224His)
|
rs201511530
|
0.00003
|
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
|
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)
|
rs771190188
|
0.00003
|
|
NM_004958.4(MTOR):c.3481C>G (p.Arg1161Gly)
|
rs202197441
|
0.00003
|
|
NM_004958.4(MTOR):c.4835G>A (p.Arg1612Gln)
|
rs771517712
|
0.00003
|
|
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met)
|
rs565025643
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1470+15C>T
|
rs375880685
|
0.00003
|
|
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr)
|
rs116504075
|
0.00003
|
|
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu)
|
rs116225248
|
0.00003
|
|
NM_005228.5(EGFR):c.758A>G (p.Lys253Arg)
|
rs374084791
|
0.00003
|
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
|
NM_005458.8(GABBR2):c.1896G>A (p.Pro632=)
|
rs373578537
|
0.00003
|
|
NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys)
|
rs750467268
|
0.00003
|
|
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=)
|
rs544565016
|
0.00003
|
|
NM_005572.4(LMNA):c.1712G>A (p.Arg571His)
|
rs200917748
|
0.00003
|
|
NM_005787.6(ALG3):c.51A>G (p.Ala17=)
|
rs763727038
|
0.00003
|
|
NM_006015.6(ARID1A):c.5753G>A (p.Arg1918Gln)
|
rs369532498
|
0.00003
|
|
NM_006361.6(HOXB13):c.122C>T (p.Thr41Met)
|
rs199799743
|
0.00003
|
|
NM_006514.4(SCN10A):c.4915G>A (p.Asp1639Asn)
|
rs368582725
|
0.00003
|
|
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp)
|
rs139853969
|
0.00003
|
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
|
NM_007186.6(CEP250):c.3499G>T (p.Ala1167Ser)
|
rs201801448
|
0.00003
|
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
|
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)
|
rs80357182
|
0.00003
|
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
|
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)
|
rs80356919
|
0.00003
|
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
|
NM_007294.4(BRCA1):c.4185+10G>C
|
rs80358104
|
0.00003
|
|
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)
|
rs80357171
|
0.00003
|
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
|
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)
|
rs55680408
|
0.00003
|
|
NM_007294.4(BRCA1):c.671-8A>G
|
rs80358144
|
0.00003
|
|
NM_007294.4(BRCA1):c.81-6T>C
|
rs80358179
|
0.00003
|
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
|
NM_007315.4(STAT1):c.1713T>G (p.Pro571=)
|
rs772114461
|
0.00003
|
|
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)
|
rs182015909
|
0.00003
|
|
NM_013447.4(ADGRE2):c.1876C>T (p.Leu626Phe)
|
rs145425662
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.1896A>C (p.Thr632=)
|
rs749646225
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=)
|
rs560354978
|
0.00003
|
|
NM_014927.5(CNKSR2):c.1458A>G (p.Arg486=)
|
rs760890681
|
0.00003
|
|
NM_015559.3(SETBP1):c.1228T>C (p.Ser410Pro)
|
rs750762528
|
0.00003
|
|
NM_015559.3(SETBP1):c.200G>A (p.Arg67Gln)
|
rs778196366
|
0.00003
|
|
NM_015570.4(AUTS2):c.1264A>G (p.Ile422Val)
|
rs376584055
|
0.00003
|
|
NM_015602.4(TOR1AIP1):c.554-1G>A
|
rs200993053
|
0.00003
|
|
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln)
|
rs139105788
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser)
|
rs928512979
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln)
|
rs749085650
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)
|
rs757066417
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
|
rs576030298
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)
|
rs1379596542
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)
|
rs777684045
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser)
|
rs769493139
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)
|
rs544856644
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
|
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)
|
rs373119531
|
0.00003
|
|
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)
|
rs370722609
|
0.00003
|
|
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)
|
rs779024959
|
0.00003
|
|
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)
|
rs200441929
|
0.00003
|
|
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)
|
rs367615733
|
0.00003
|
|
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser)
|
rs760985201
|
0.00003
|
|
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
|
rs371151471
|
0.00003
|
|
NM_018418.5(SPATA7):c.373-15A>G
|
rs781587897
|
0.00003
|
|
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=)
|
rs2287626
|
0.00003
|
|
NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn)
|
rs200547165
|
0.00003
|
|
NM_020975.6(RET):c.31C>A (p.Leu11Met)
|
rs587780812
|
0.00003
|
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
|
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met)
|
rs371500703
|
0.00003
|
|
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln)
|
rs751148760
|
0.00003
|
|
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu)
|
rs373190026
|
0.00003
|
|
NM_021098.3(CACNA1H):c.6038T>C (p.Leu2013Pro)
|
rs905456471
|
0.00003
|
|
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys)
|
rs774769004
|
0.00003
|
|
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu)
|
rs765757800
|
0.00003
|
|
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln)
|
rs775972605
|
0.00003
|
|
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln)
|
rs747097789
|
0.00003
|
|
NM_022124.6(CDH23):c.429+4G>A
|
rs397517328
|
0.00003
|
|
NM_022455.5(NSD1):c.2032A>G (p.Met678Val)
|
rs773904155
|
0.00003
|
|
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln)
|
rs372129830
|
0.00003
|
|
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
|
rs747569209
|
0.00003
|
|
NM_022489.4(INF2):c.580G>A (p.Val194Met)
|
rs368298329
|
0.00003
|
|
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)
|
rs763189481
|
0.00003
|
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
|
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys)
|
rs182464375
|
0.00003
|
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
|
NM_024675.4(PALB2):c.108+12G>A
|
rs558824045
|
0.00003
|
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
|
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)
|
rs45548638
|
0.00003
|
|
NM_030665.4(RAI1):c.4166A>G (p.Gln1389Arg)
|
rs757354656
|
0.00003
|
|
NM_030665.4(RAI1):c.4817C>T (p.Ala1606Val)
|
rs771535517
|
0.00003
|
|
NM_030665.4(RAI1):c.5023G>C (p.Val1675Leu)
|
rs113210810
|
0.00003
|
|
NM_030665.4(RAI1):c.887G>A (p.Arg296Gln)
|
rs201729595
|
0.00003
|
|
NM_031407.7(HUWE1):c.957G>T (p.Gln319His)
|
rs782234241
|
0.00003
|
|
NM_031433.4(MFRP):c.807G>A (p.Gln269=)
|
rs371537663
|
0.00003
|
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
|
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu)
|
rs200130204
|
0.00003
|
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
|
NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu)
|
rs376863164
|
0.00003
|
|
NM_032119.4(ADGRV1):c.17621A>G (p.Lys5874Arg)
|
rs199516167
|
0.00003
|
|
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
|
rs547076322
|
0.00003
|
|
NM_032119.4(ADGRV1):c.2848G>C (p.Gly950Arg)
|
rs569112173
|
0.00003
|
|
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys)
|
rs764998691
|
0.00003
|
|
NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu)
|
rs373983482
|
0.00003
|
|
NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu)
|
rs764307090
|
0.00003
|
|
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu)
|
rs562253142
|
0.00003
|
|
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys)
|
rs369849667
|
0.00003
|
|
NM_080680.3(COL11A2):c.4537C>T (p.Arg1513Trp)
|
rs199615717
|
0.00003
|
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
|
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)
|
rs748878853
|
0.00003
|
|
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)
|
rs777826268
|
0.00003
|
|
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)
|
rs558699420
|
0.00003
|
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
|
NM_172362.3(KCNH1):c.2488G>A (p.Asp830Asn)
|
rs372532077
|
0.00003
|
|
NM_173076.3(ABCA12):c.6976G>A (p.Val2326Ile)
|
rs761340026
|
0.00003
|
|
NM_173354.5(SIK1):c.2243G>A (p.Arg748His)
|
rs375516507
|
0.00003
|
|
NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr)
|
rs143784708
|
0.00003
|
|
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)
|
rs35763782
|
0.00003
|
|
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys)
|
rs138789938
|
0.00003
|
|
NM_182914.3(SYNE2):c.418C>G (p.Leu140Val)
|
rs761503203
|
0.00003
|
|
NM_201596.3(CACNB2):c.1522G>A (p.Ala508Thr)
|
rs759958799
|
0.00003
|
|
NM_206937.2(LIG4):c.2499T>C (p.Asn833=)
|
rs769297575
|
0.00003
|
|
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)
|
rs571694324
|
0.00003
|
|
NC_000011.10:g.47343017C>T
|
rs777487971
|
0.00002
|
|
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
|
rs568118142
|
0.00002
|
|
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
|
rs782647014
|
0.00002
|
|
NM_000038.6(APC):c.138A>G (p.Glu46=)
|
rs1429803547
|
0.00002
|
|
NM_000038.6(APC):c.1685C>T (p.Thr562Met)
|
rs587783034
|
0.00002
|
|
NM_000038.6(APC):c.2780C>G (p.Ala927Gly)
|
rs587781500
|
0.00002
|
|
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg)
|
rs745825088
|
0.00002
|
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00002
|
|
NM_000038.6(APC):c.4913T>C (p.Met1638Thr)
|
rs201797422
|
0.00002
|
|
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu)
|
rs529543591
|
0.00002
|
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
|
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln)
|
rs759728732
|
0.00002
|
|
NM_000038.6(APC):c.8141G>A (p.Arg2714His)
|
rs747362422
|
0.00002
|
|
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)
|
rs758044862
|
0.00002
|
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
|
NM_000051.4(ATM):c.2124+14A>G
|
rs772719886
|
0.00002
|
|
NM_000051.4(ATM):c.3402+16A>G
|
rs763382531
|
0.00002
|
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
rs750341436
|
0.00002
|
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
|
NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr)
|
rs80358454
|
0.00002
|
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
|
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr)
|
rs80358468
|
0.00002
|
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
rs55962656
|
0.00002
|
|
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)
|
rs80358528
|
0.00002
|
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
|
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr)
|
rs28897719
|
0.00002
|
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
|
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val)
|
rs397507352
|
0.00002
|
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
|
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)
|
rs80358823
|
0.00002
|
|
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr)
|
rs144784912
|
0.00002
|
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
|
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln)
|
rs80358982
|
0.00002
|
|
NM_000059.4(BRCA2):c.784G>C (p.Ala262Pro)
|
rs397507393
|
0.00002
|
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
rs143999963
|
0.00002
|
|
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr)
|
rs80359038
|
0.00002
|
|
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)
|
rs80359114
|
0.00002
|
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
|
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His)
|
rs80359150
|
0.00002
|
|
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr)
|
rs56179254
|
0.00002
|
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser)
|
rs756022224
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp)
|
rs758354862
|
0.00002
|
|
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser)
|
rs369931782
|
0.00002
|
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
|
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln)
|
rs373407950
|
0.00002
|
|
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=)
|
rs778871932
|
0.00002
|
|
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
|
rs749697867
|
0.00002
|
|
NM_000098.3(CPT2):c.1404G>A (p.Gln468=)
|
rs140771069
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
|
rs990648341
|
0.00002
|
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
|
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)
|
rs63750440
|
0.00002
|
|
NM_000179.3(MSH6):c.1493A>G (p.Lys498Arg)
|
rs147136417
|
0.00002
|
|
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)
|
rs779411998
|
0.00002
|
|
NM_000179.3(MSH6):c.2168G>C (p.Gly723Ala)
|
rs759403696
|
0.00002
|
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
|
NM_000179.3(MSH6):c.2701C>A (p.Arg901Ser)
|
rs772514245
|
0.00002
|
|
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)
|
rs764113705
|
0.00002
|
|
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)
|
rs730881804
|
0.00002
|
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
|
NM_000179.3(MSH6):c.3801+4T>C
|
rs758830540
|
0.00002
|
|
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)
|
rs786204130
|
0.00002
|
|
NM_000179.3(MSH6):c.661G>A (p.Glu221Lys)
|
rs757817018
|
0.00002
|
|
NM_000179.3(MSH6):c.728G>A (p.Arg243His)
|
rs370157832
|
0.00002
|
|
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln)
|
rs55760494
|
0.00002
|
|
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)
|
rs749875053
|
0.00002
|
|
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)
|
rs752302466
|
0.00002
|
|
NM_000206.3(IL2RG):c.87G>A (p.Thr29=)
|
rs779772745
|
0.00002
|
|
NM_000211.5(ITGB2):c.742-5C>G
|
rs542698586
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile)
|
rs777347006
|
0.00002
|
|
NM_000231.3(SGCG):c.479T>C (p.Val160Ala)
|
rs527562042
|
0.00002
|
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
|
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys)
|
rs45628136
|
0.00002
|
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
|
NM_000251.3(MSH2):c.1200C>G (p.Asn400Lys)
|
rs1301023135
|
0.00002
|
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
|
NM_000251.3(MSH2):c.1717G>A (p.Ala573Thr)
|
rs200766962
|
0.00002
|
|
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)
|
rs41295290
|
0.00002
|
|
NM_000251.3(MSH2):c.232G>A (p.Val78Ile)
|
rs772779997
|
0.00002
|
|
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)
|
rs775390721
|
0.00002
|
|
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)
|
rs587779967
|
0.00002
|
|
NM_000251.3(MSH2):c.808C>G (p.Leu270Val)
|
rs758403441
|
0.00002
|
|
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)
|
rs773301485
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3138G>A (p.Thr1046=)
|
rs762154672
|
0.00002
|
|
NM_000256.3(MYBPC3):c.502G>A (p.Val168Met)
|
rs569740494
|
0.00002
|
|
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)
|
rs369997614
|
0.00002
|
|
NM_000264.5(PTCH1):c.1215+14C>T
|
rs367857273
|
0.00002
|
|
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu)
|
rs146447673
|
0.00002
|
|
NM_000277.3(PAH):c.1065+39G>T
|
rs62510582
|
0.00002
|
|
NM_000280.4(PAX6):c.*4696G>C
|
rs180780893
|
0.00002
|
|
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser)
|
rs781839243
|
0.00002
|
|
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys)
|
rs1060503078
|
0.00002
|
|
NM_000322.5(PRPH2):c.409G>A (p.Gly137Ser)
|
rs781256236
|
0.00002
|
|
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr)
|
rs199473140
|
0.00002
|
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
|
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=)
|
rs573418899
|
0.00002
|
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
|
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg)
|
rs878853959
|
0.00002
|
|
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)
|
rs202241429
|
0.00002
|
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00002
|
|
NM_000368.5(TSC1):c.2303G>A (p.Arg768His)
|
rs1033725987
|
0.00002
|
|
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly)
|
rs760762170
|
0.00002
|
|
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)
|
rs796053461
|
0.00002
|
|
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)
|
rs112066743
|
0.00002
|
|
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala)
|
rs745871522
|
0.00002
|
|
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)
|
rs796053452
|
0.00002
|
|
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr)
|
rs752290177
|
0.00002
|
|
NM_000384.3(APOB):c.13463T>C (p.Ile4488Thr)
|
rs374389311
|
0.00002
|
|
NM_000384.3(APOB):c.1595G>A (p.Arg532Gln)
|
rs753831464
|
0.00002
|
|
NM_000384.3(APOB):c.3828C>A (p.Asn1276Lys)
|
rs199966747
|
0.00002
|
|
NM_000384.3(APOB):c.4928C>T (p.Ala1643Val)
|
rs1008238083
|
0.00002
|
|
NM_000384.3(APOB):c.5580G>T (p.Gln1860His)
|
rs199585500
|
0.00002
|
|
NM_000384.3(APOB):c.7727G>A (p.Arg2576His)
|
rs759057929
|
0.00002
|
|
NM_000391.4(TPP1):c.1552-9C>T
|
rs369699167
|
0.00002
|
|
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=)
|
rs4148401
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
|
NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu)
|
rs762828809
|
0.00002
|
|
NM_000455.5(STK11):c.828C>T (p.Gly276=)
|
rs200824447
|
0.00002
|
|
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly)
|
rs375644184
|
0.00002
|
|
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)
|
rs1280555560
|
0.00002
|
|
NM_000518.5(HBB):c.170G>A (p.Gly57Asp)
|
rs34439278
|
0.00002
|
|
NM_000527.5(LDLR):c.-13A>G
|
rs376011618
|
0.00002
|
|
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
|
rs730882103
|
0.00002
|
|
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)
|
rs371155999
|
0.00002
|
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00002
|
|
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro)
|
rs764967942
|
0.00002
|
|
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys)
|
rs1319342312
|
0.00002
|
|
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp)
|
rs775881847
|
0.00002
|
|
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser)
|
rs764840082
|
0.00002
|
|
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val)
|
rs754556513
|
0.00002
|
|
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)
|
rs1489623582
|
0.00002
|
|
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)
|
rs767770242
|
0.00002
|
|
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val)
|
rs886042145
|
0.00002
|
|
NM_000548.5(TSC2):c.2479G>A (p.Val827Met)
|
rs543738044
|
0.00002
|
|
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=)
|
rs754951889
|
0.00002
|
|
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)
|
rs201599540
|
0.00002
|
|
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys)
|
rs1020561347
|
0.00002
|
|
NM_000548.5(TSC2):c.3928G>A (p.Val1310Met)
|
rs1046522975
|
0.00002
|
|
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu)
|
rs776049462
|
0.00002
|
|
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)
|
rs150999168
|
0.00002
|
|
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)
|
rs587778738
|
0.00002
|
|
NM_000548.5(TSC2):c.4973A>G (p.Lys1658Arg)
|
rs1050594534
|
0.00002
|
|
NM_000548.5(TSC2):c.5279A>G (p.Tyr1760Cys)
|
rs1261020269
|
0.00002
|
|
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)
|
rs556958354
|
0.00002
|
|
NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn)
|
rs529755922
|
0.00002
|
|
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)
|
rs140053197
|
0.00002
|
|
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg)
|
rs888138096
|
0.00002
|
|
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)
|
rs370599966
|
0.00002
|
|
NM_001005361.3(DNM2):c.1196+710G>A
|
rs140208362
|
0.00002
|
|
NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser)
|
rs1450517934
|
0.00002
|
|
NM_001008537.3(NEXMIF):c.2986A>G (p.Met996Val)
|
rs779441513
|
0.00002
|
|
NM_001029896.2(WDR45):c.870C>T (p.Tyr290=)
|
rs782557596
|
0.00002
|
|
NM_001032382.2(PQBP1):c.288T>C (p.Asn96=)
|
rs782360331
|
0.00002
|
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
|
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)
|
rs372289648
|
0.00002
|
|
NM_001037.5(SCN1B):c.636G>A (p.Thr212=)
|
rs763715229
|
0.00002
|
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
|
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala)
|
rs587781757
|
0.00002
|
|
NM_001042492.3(NF1):c.529A>G (p.Ile177Val)
|
rs766213678
|
0.00002
|
|
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg)
|
rs138570124
|
0.00002
|
|
NM_001103.4(ACTN2):c.1108-5C>T
|
rs369956166
|
0.00002
|
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
|
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)
|
rs782129236
|
0.00002
|
|
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=)
|
rs1324926264
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys)
|
rs957057964
|
0.00002
|
|
NM_001114753.3(ENG):c.805A>G (p.Met269Val)
|
rs1323617205
|
0.00002
|
|
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp)
|
rs373554386
|
0.00002
|
|
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)
|
rs199422208
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)
|
rs746824729
|
0.00002
|
|
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp)
|
rs1458326422
|
0.00002
|
|
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
|
rs765763663
|
0.00002
|
|
NM_001142864.4(PIEZO1):c.6692C>T (p.Ser2231Phe)
|
rs575482829
|
0.00002
|
|
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys)
|
rs397516628
|
0.00002
|
|
NM_001148.6(ANK2):c.10646G>A (p.Arg3549His)
|
rs768351547
|
0.00002
|
|
NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val)
|
rs531261130
|
0.00002
|
|
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu)
|
rs199934793
|
0.00002
|
|
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)
|
rs375182306
|
0.00002
|
|
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp)
|
rs561904743
|
0.00002
|
|
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=)
|
rs771527086
|
0.00002
|
|
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His)
|
rs771495234
|
0.00002
|
|
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly)
|
rs765940770
|
0.00002
|
|
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)
|
rs201096167
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3465+4C>T
|
rs879064869
|
0.00002
|
|
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)
|
rs760724229
|
0.00002
|
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
|
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)
|
rs775889693
|
0.00002
|
|
NM_001267550.2(TTN):c.49032G>A (p.Val16344=)
|
rs587780980
|
0.00002
|
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
|
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)
|
rs563233842
|
0.00002
|
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00002
|
|
NM_001267550.2(TTN):c.92152+7T>G
|
rs574211300
|
0.00002
|
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)
|
rs201475447
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1055C>T (p.Thr352Met)
|
rs200824684
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11717C>T (p.Ala3906Val)
|
rs200664169
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1220A>C (p.Asp407Ala)
|
rs780042783
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2887A>G (p.Arg963Gly)
|
rs185803317
|
0.00002
|
|
NM_001277115.2(DNAH11):c.355C>G (p.Pro119Ala)
|
rs747193364
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4681G>A (p.Val1561Met)
|
rs752129504
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4886A>G (p.Tyr1629Cys)
|
rs750494795
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6717A>G (p.Ser2239=)
|
rs373930042
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7334C>T (p.Ser2445Leu)
|
rs180970138
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met)
|
rs375595192
|
0.00002
|
|
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr)
|
rs782331927
|
0.00002
|
|
NM_001278116.2(L1CAM):c.1379+3G>A
|
rs782455321
|
0.00002
|
|
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys)
|
rs202175564
|
0.00002
|
|
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=)
|
rs201372074
|
0.00002
|
|
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys)
|
rs200688598
|
0.00002
|
|
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys)
|
rs1172761444
|
0.00002
|
|
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=)
|
rs202082978
|
0.00002
|
|
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His)
|
rs782420127
|
0.00002
|
|
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=)
|
rs782223025
|
0.00002
|
|
NM_001282531.3(ADNP):c.2600A>G (p.Asn867Ser)
|
rs750479975
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206
|
0.00002
|
|
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=)
|
rs146982102
|
0.00002
|
|
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)
|
rs759524625
|
0.00002
|
|
NM_001349338.3(FOXP1):c.160G>A (p.Ala54Thr)
|
rs758125097
|
0.00002
|
|
NM_001353214.3(DYM):c.288-10G>A
|
rs557407004
|
0.00002
|
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
|
NM_001368894.2(PAX6):c.-316-8C>G
|
rs566281941
|
0.00002
|
|
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)
|
rs761093701
|
0.00002
|
|
NM_001374828.1(ARID1B):c.4314C>T (p.Ser1438=)
|
rs371872657
|
0.00002
|
|
NM_001375524.1(TRRAP):c.4405-5A>G
|
rs782409632
|
0.00002
|
|
NM_001377265.1(MAPT):c.220+2503C>T
|
rs138293088
|
0.00002
|
|
NM_001379110.1(SLC9A6):c.1269G>C (p.Lys423Asn)
|
rs781918578
|
0.00002
|
|
NM_001379270.1(CNGA1):c.1939A>G (p.Met647Val)
|
rs549705696
|
0.00002
|
|
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser)
|
rs778997084
|
0.00002
|
|
NM_001558.4(IL10RA):c.72A>C (p.Thr24=)
|
rs560128585
|
0.00002
|
|
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=)
|
rs398123627
|
0.00002
|
|
NM_001844.5(COL2A1):c.1975C>T (p.Pro659Ser)
|
rs747852608
|
0.00002
|
|
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val)
|
rs556788032
|
0.00002
|
|
NM_001844.5(COL2A1):c.446G>A (p.Arg149His)
|
rs763538232
|
0.00002
|
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
|
NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met)
|
rs544289862
|
0.00002
|
|
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser)
|
rs375314757
|
0.00002
|
|
NM_001854.4(COL11A1):c.2722G>A (p.Gly908Ser)
|
rs758953085
|
0.00002
|
|
NM_001854.4(COL11A1):c.3361T>G (p.Ser1121Ala)
|
rs778937772
|
0.00002
|
|
NM_001854.4(COL11A1):c.475A>G (p.Ile159Val)
|
rs774693614
|
0.00002
|
|
NM_001854.4(COL11A1):c.611C>T (p.Thr204Met)
|
rs199595073
|
0.00002
|
|
NM_001854.4(COL11A1):c.818A>G (p.Tyr273Cys)
|
rs763484552
|
0.00002
|
|
NM_001999.4(FBN2):c.2901A>G (p.Pro967=)
|
rs185991527
|
0.00002
|
|
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)
|
rs368802769
|
0.00002
|
|
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)
|
rs886059894
|
0.00002
|
|
NM_002076.4(GNS):c.285A>G (p.Arg95=)
|
rs545765198
|
0.00002
|
|
NM_002103.5(GYS1):c.1020C>T (p.Asp340=)
|
rs13306415
|
0.00002
|
|
NM_002386.4(MC1R):c.869A>G (p.Asn290Ser)
|
rs373703770
|
0.00002
|
|
NM_002473.6(MYH9):c.318C>T (p.Tyr106=)
|
rs202117532
|
0.00002
|
|
NM_002473.6(MYH9):c.3591C>T (p.Ala1197=)
|
rs549408462
|
0.00002
|
|
NM_002693.3(POLG):c.3104+8C>A
|
rs754615624
|
0.00002
|
|
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)
|
rs146584956
|
0.00002
|
|
NM_002880.4(RAF1):c.1668+4A>G
|
rs771344560
|
0.00002
|
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
|
NM_003240.5(LEFTY2):c.371C>G (p.Pro124Arg)
|
rs777195213
|
0.00002
|
|
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro)
|
rs398123705
|
0.00002
|
|
NM_003482.4(KMT2D):c.251G>A (p.Arg84His)
|
rs780096090
|
0.00002
|
|
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala)
|
rs377457393
|
0.00002
|
|
NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met)
|
rs770692765
|
0.00002
|
|
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val)
|
rs1239905273
|
0.00002
|
|
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr)
|
rs754811534
|
0.00002
|
|
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln)
|
rs764696852
|
0.00002
|
|
NM_003978.5(PSTPIP1):c.247+1G>A
|
rs573784011
|
0.00002
|
|
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr)
|
rs758911910
|
0.00002
|
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
|
NM_004104.5(FASN):c.4654C>T (p.Arg1552Cys)
|
rs762427627
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His)
|
rs749571434
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val)
|
rs587781503
|
0.00002
|
|
NM_004329.3(BMPR1A):c.455G>A (p.Arg152Gln)
|
rs567009904
|
0.00002
|
|
NM_004329.3(BMPR1A):c.568A>G (p.Asn190Asp)
|
rs771444196
|
0.00002
|
|
NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg)
|
rs755462552
|
0.00002
|
|
NM_004333.6(BRAF):c.138+17C>G
|
rs756400234
|
0.00002
|
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
|
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)
|
rs751346548
|
0.00002
|
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
|
NM_004360.5(CDH1):c.2079C>T (p.Gly693=)
|
rs771993728
|
0.00002
|
|
NM_004360.5(CDH1):c.2399G>A (p.Arg800His)
|
rs370345996
|
0.00002
|
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
|
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)
|
rs747082651
|
0.00002
|
|
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)
|
rs587783474
|
0.00002
|
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
|
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)
|
rs200243976
|
0.00002
|
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
|
NM_004525.3(LRP2):c.39C>T (p.Leu13=)
|
rs529649802
|
0.00002
|
|
NM_004655.4(AXIN2):c.428G>A (p.Ser143Asn)
|
rs761849564
|
0.00002
|
|
NM_004655.4(AXIN2):c.897C>T (p.Asp299=)
|
rs748143308
|
0.00002
|
|
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His)
|
rs544069848
|
0.00002
|
|
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)
|
rs398124203
|
0.00002
|
|
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser)
|
rs138386557
|
0.00002
|
|
NM_005559.4(LAMA1):c.8315G>A (p.Arg2772His)
|
rs548903685
|
0.00002
|
|
NM_005732.4(RAD50):c.1720A>C (p.Lys574Gln)
|
rs779597467
|
0.00002
|
|
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)
|
rs376950905
|
0.00002
|
|
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)
|
rs775353413
|
0.00002
|
|
NM_006343.3(MERTK):c.1340G>A (p.Arg447Gln)
|
rs753693755
|
0.00002
|
|
NM_006415.4(SPTLC1):c.58-9C>T
|
rs769188151
|
0.00002
|
|
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val)
|
rs543290126
|
0.00002
|
|
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)
|
rs747376669
|
0.00002
|
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
|
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)
|
rs201936720
|
0.00002
|
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
|
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val)
|
rs80357271
|
0.00002
|
|
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=)
|
rs148038877
|
0.00002
|
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
|
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr)
|
rs80357036
|
0.00002
|
|
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)
|
rs80357202
|
0.00002
|
|
NM_007294.4(BRCA1):c.4097-11T>C
|
rs80358072
|
0.00002
|
|
NM_007294.4(BRCA1):c.4676-7C>T
|
rs80358005
|
0.00002
|
|
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)
|
rs80356968
|
0.00002
|
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
|
NM_007294.4(BRCA1):c.5153-6C>A
|
rs80358129
|
0.00002
|
|
NM_007294.4(BRCA1):c.5402G>A (p.Gly1801Asp)
|
rs531210457
|
0.00002
|
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
|
NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly)
|
rs80357199
|
0.00002
|
|
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile)
|
rs80357103
|
0.00002
|
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
|
NM_012469.4(PRPF6):c.1368G>A (p.Ala456=)
|
rs139828718
|
0.00002
|
|
NM_014014.5(SNRNP200):c.6093-7C>A
|
rs201143866
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu)
|
rs193247334
|
0.00002
|
|
NM_014249.4(NR2E3):c.264G>T (p.Gly88=)
|
rs558123422
|
0.00002
|
|
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)
|
rs774463808
|
0.00002
|
|
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)
|
rs753844954
|
0.00002
|
|
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
|
rs753511073
|
0.00002
|
|
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)
|
rs199657817
|
0.00002
|
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
|
NM_014585.6(SLC40A1):c.646A>G (p.Met216Val)
|
rs757531583
|
0.00002
|
|
NM_014795.4(ZEB2):c.220G>A (p.Val74Met)
|
rs767169568
|
0.00002
|
|
NM_014795.4(ZEB2):c.2766A>T (p.Pro922=)
|
rs185223937
|
0.00002
|
|
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
|
rs773193617
|
0.00002
|
|
NM_015192.4(PLCB1):c.2308+14G>C
|
rs768572485
|
0.00002
|
|
NM_015338.6(ASXL1):c.3487G>A (p.Asp1163Asn)
|
rs371131434
|
0.00002
|
|
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)
|
rs773681267
|
0.00002
|
|
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly)
|
rs530739140
|
0.00002
|
|
NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys)
|
rs767260608
|
0.00002
|
|
NM_015559.3(SETBP1):c.3860C>T (p.Ser1287Leu)
|
rs771332971
|
0.00002
|
|
NM_015559.3(SETBP1):c.4619C>T (p.Pro1540Leu)
|
rs1037280105
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)
|
rs757631575
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)
|
rs200699541
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)
|
rs773926521
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
|
rs147841035
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)
|
rs552065719
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr)
|
rs569203312
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)
|
rs752505638
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)
|
rs751007903
|
0.00002
|
|
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)
|
rs752802795
|
0.00002
|
|
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)
|
rs763187824
|
0.00002
|
|
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp)
|
rs567938424
|
0.00002
|
|
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu)
|
rs61742851
|
0.00002
|
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
|
NM_018136.5(ASPM):c.2205G>A (p.Glu735=)
|
rs755350285
|
0.00002
|
|
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr)
|
rs200093133
|
0.00002
|
|
NM_018896.5(CACNA1G):c.3200G>A (p.Arg1067His)
|
rs369751310
|
0.00002
|
|
NM_018965.4(TREM2):c.677-6T>C
|
rs199910080
|
0.00002
|
|
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn)
|
rs375121203
|
0.00002
|
|
NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met)
|
rs61910721
|
0.00002
|
|
NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu)
|
rs768306211
|
0.00002
|
|
NM_021098.3(CACNA1H):c.3185C>T (p.Pro1062Leu)
|
rs1245328322
|
0.00002
|
|
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn)
|
rs754581272
|
0.00002
|
|
NM_021098.3(CACNA1H):c.6346G>A (p.Glu2116Lys)
|
rs768078771
|
0.00002
|
|
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)
|
rs760918600
|
0.00002
|
|
NM_021120.4(DLG3):c.1280G>A (p.Arg427His)
|
rs775293712
|
0.00002
|
|
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)
|
rs548098742
|
0.00002
|
|
NM_022489.4(INF2):c.1615G>A (p.Val539Met)
|
rs769014945
|
0.00002
|
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
|
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu)
|
rs146814571
|
0.00002
|
|
NM_024757.5(EHMT1):c.2405G>C (p.Cys802Ser)
|
rs763767150
|
0.00002
|
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
|
NM_030665.4(RAI1):c.2392C>T (p.Pro798Ser)
|
rs148947371
|
0.00002
|
|
NM_030665.4(RAI1):c.2414C>T (p.Ser805Leu)
|
rs368058215
|
0.00002
|
|
NM_030665.4(RAI1):c.2644G>A (p.Glu882Lys)
|
rs757023203
|
0.00002
|
|
NM_030665.4(RAI1):c.3097C>G (p.Pro1033Ala)
|
rs749315193
|
0.00002
|
|
NM_030665.4(RAI1):c.4855G>T (p.Asp1619Tyr)
|
rs752659701
|
0.00002
|
|
NM_032119.4(ADGRV1):c.1189A>G (p.Ser397Gly)
|
rs377201437
|
0.00002
|
|
NM_032119.4(ADGRV1):c.1210G>A (p.Val404Ile)
|
rs780748586
|
0.00002
|
|
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)
|
rs760841840
|
0.00002
|
|
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=)
|
rs774124713
|
0.00002
|
|
NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala)
|
rs374609813
|
0.00002
|
|
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu)
|
rs375272281
|
0.00002
|
|
NM_033360.4(KRAS):c.249C>T (p.Ala83=)
|
rs751117590
|
0.00002
|
|
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val)
|
rs147945173
|
0.00002
|
|
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)
|
rs201399429
|
0.00002
|
|
NM_080680.3(COL11A2):c.914C>T (p.Ser305Leu)
|
rs1049821607
|
0.00002
|
|
NM_138576.4(BCL11B):c.82G>A (p.Ala28Thr)
|
rs766014776
|
0.00002
|
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=)
|
rs727504104
|
0.00002
|
|
NM_170601.5(SIAE):c.886C>T (p.Leu296Phe)
|
rs200609324
|
0.00002
|
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
|
NM_175875.5(SIX5):c.1651G>A (p.Val551Met)
|
rs755502593
|
0.00002
|
|
NM_178857.6(RP1L1):c.434G>A (p.Arg145Gln)
|
rs373569904
|
0.00002
|
|
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu)
|
rs139959852
|
0.00002
|
|
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile)
|
rs538224852
|
0.00002
|
|
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)
|
rs375476506
|
0.00002
|
|
NM_183357.3(ADCY5):c.34T>C (p.Tyr12His)
|
rs1020556677
|
0.00002
|
|
NM_000030.3(AGXT):c.537G>C (p.Leu179=)
|
rs565927450
|
0.00001
|
|
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)
|
rs782546330
|
0.00001
|
|
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)
|
rs76180859
|
0.00001
|
|
NM_000037.4(ANK1):c.237C>T (p.Asn79=)
|
rs372696694
|
0.00001
|
|
NM_000038.6(APC):c.1110G>A (p.Leu370=)
|
rs1439967202
|
0.00001
|
|
NM_000038.6(APC):c.2958T>C (p.Tyr986=)
|
rs746581330
|
0.00001
|
|
NM_000038.6(APC):c.3909A>G (p.Gln1303=)
|
rs746289994
|
0.00001
|
|
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser)
|
rs756048549
|
0.00001
|
|
NM_000038.6(APC):c.4766G>A (p.Arg1589His)
|
rs374048423
|
0.00001
|
|
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)
|
rs529480958
|
0.00001
|
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
|
NM_000038.6(APC):c.5981A>T (p.Asp1994Val)
|
rs774815653
|
0.00001
|
|
NM_000038.6(APC):c.6403A>G (p.Ile2135Val)
|
rs757633174
|
0.00001
|
|
NM_000038.6(APC):c.7262C>T (p.Ser2421Leu)
|
rs536557651
|
0.00001
|
|
NM_000038.6(APC):c.8298C>T (p.Ser2766=)
|
rs876658523
|
0.00001
|
|
NM_000038.6(APC):c.835-4T>G
|
rs756807560
|
0.00001
|
|
NM_000039.3(APOA1):c.201-9A>G
|
rs377207262
|
0.00001
|
|
NM_000051.4(ATM):c.1898+3A>G
|
rs200169643
|
0.00001
|
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
0.00001
|
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
|
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)
|
rs534622837
|
0.00001
|
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
|
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)
|
rs368547042
|
0.00001
|
|
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)
|
rs770255643
|
0.00001
|
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
|
NM_000059.4(BRCA2):c.1124C>T (p.Pro375Leu)
|
rs80358409
|
0.00001
|
|
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)
|
rs398122724
|
0.00001
|
|
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)
|
rs80358422
|
0.00001
|
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
|
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu)
|
rs80358467
|
0.00001
|
|
NM_000059.4(BRCA2):c.1865C>T (p.Ala622Val)
|
rs80358477
|
0.00001
|
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
|
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp)
|
rs55736268
|
0.00001
|
|
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys)
|
rs431825298
|
0.00001
|
|
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
|
rs80358530
|
0.00001
|
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
|
NM_000059.4(BRCA2):c.3495T>C (p.His1165=)
|
rs776655838
|
0.00001
|
|
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)
|
rs80358599
|
0.00001
|
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
0.00001
|
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
|
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=)
|
rs276174840
|
0.00001
|
|
NM_000059.4(BRCA2):c.4046T>C (p.Ile1349Thr)
|
rs80358654
|
0.00001
|
|
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys)
|
rs80358664
|
0.00001
|
|
NM_000059.4(BRCA2):c.441A>G (p.Gln147=)
|
rs80358676
|
0.00001
|
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
|
NM_000059.4(BRCA2):c.4718G>A (p.Cys1573Tyr)
|
rs56249050
|
0.00001
|
|
NM_000059.4(BRCA2):c.497A>T (p.His166Leu)
|
rs876658364
|
0.00001
|
|
NM_000059.4(BRCA2):c.517-11T>C
|
rs81002828
|
0.00001
|
|
NM_000059.4(BRCA2):c.521G>A (p.Arg174His)
|
rs80358747
|
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.5723T>C (p.Leu1908Pro)
|
rs80358797
|
0.00001
|
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
|
NM_000059.4(BRCA2):c.67+4T>C
|
rs373546450
|
0.00001
|
|
NM_000059.4(BRCA2):c.6734T>A (p.Leu2245Gln)
|
rs772795886
|
0.00001
|
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
|
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)
|
rs80358921
|
0.00001
|
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
|
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)
|
rs80358955
|
0.00001
|
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
|
NM_000059.4(BRCA2):c.7618-19G>T
|
rs371417084
|
0.00001
|
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
|
NM_000059.4(BRCA2):c.7805+11C>A
|
rs1060504610
|
0.00001
|
|
NM_000059.4(BRCA2):c.7805+8A>G
|
rs81002847
|
0.00001
|
|
NM_000059.4(BRCA2):c.7806-6del
|
rs764374133
|
0.00001
|
|
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)
|
rs80359034
|
0.00001
|
|
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu)
|
rs80359053
|
0.00001
|
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
|
NM_000059.4(BRCA2):c.8331+14C>T
|
rs1287378096
|
0.00001
|
|
NM_000059.4(BRCA2):c.8332-6G>T
|
rs587780872
|
0.00001
|
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
|
NM_000059.4(BRCA2):c.8632+14T>C
|
rs730881596
|
0.00001
|
|
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)
|
rs80359132
|
0.00001
|
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
|
NM_000059.4(BRCA2):c.9187C>T (p.Pro3063Ser)
|
rs80359176
|
0.00001
|
|
NM_000059.4(BRCA2):c.9257-18C>A
|
rs81002807
|
0.00001
|
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
|
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)
|
rs28897760
|
0.00001
|
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
rs80359227
|
0.00001
|
|
NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu)
|
rs80359233
|
0.00001
|
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
|
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)
|
rs80359246
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser)
|
rs372374492
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile)
|
rs200066766
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met)
|
rs542998031
|
0.00001
|
|
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)
|
rs190152688
|
0.00001
|
|
NM_000077.5(CDKN2A):c.151-4G>C
|
rs529380972
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
0.00001
|
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
|
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn)
|
rs545808060
|
0.00001
|
|
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)
|
rs777789161
|
0.00001
|
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
|
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)
|
rs781756159
|
0.00001
|
|
NM_000096.4(CP):c.2611G>A (p.Asp871Asn)
|
rs529607771
|
0.00001
|
|
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met)
|
rs767709344
|
0.00001
|
|
NM_000133.4(F9):c.60A>G (p.Leu20=)
|
rs762082146
|
0.00001
|
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
|
NM_000135.4(FANCA):c.2152-10G>C
|
rs557705265
|
0.00001
|
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
|
NM_000158.4(GBE1):c.2016G>A (p.Glu672=)
|
rs571448518
|
0.00001
|
|
NM_000179.3(MSH6):c.1028C>T (p.Pro343Leu)
|
rs548898238
|
0.00001
|
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
|
NM_000179.3(MSH6):c.112C>T (p.Pro38Ser)
|
rs764009461
|
0.00001
|
|
NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn)
|
rs147737737
|
0.00001
|
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
|
NM_000179.3(MSH6):c.1270G>C (p.Val424Leu)
|
rs768299607
|
0.00001
|
|
NM_000179.3(MSH6):c.134G>C (p.Gly45Ala)
|
rs1114167802
|
0.00001
|
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
|
NM_000179.3(MSH6):c.1660C>T (p.Arg554Cys)
|
rs775716798
|
0.00001
|
|
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)
|
rs876661043
|
0.00001
|
|
NM_000179.3(MSH6):c.1912C>A (p.Leu638Ile)
|
rs1303026707
|
0.00001
|
|
NM_000179.3(MSH6):c.194C>T (p.Ser65Leu)
|
rs41294984
|
0.00001
|
|
NM_000179.3(MSH6):c.1957G>A (p.Val653Met)
|
rs768095444
|
0.00001
|
|
NM_000179.3(MSH6):c.1962G>A (p.Met654Ile)
|
rs148592158
|
0.00001
|
|
NM_000179.3(MSH6):c.2180C>G (p.Thr727Ser)
|
rs767861096
|
0.00001
|
|
NM_000179.3(MSH6):c.2260A>C (p.Thr754Pro)
|
rs545057945
|
0.00001
|
|
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)
|
rs561198849
|
0.00001
|
|
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)
|
rs587779923
|
0.00001
|
|
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)
|
rs139598980
|
0.00001
|
|
NM_000179.3(MSH6):c.2615T>C (p.Ile872Thr)
|
rs1064793342
|
0.00001
|
|
NM_000179.3(MSH6):c.2673C>G (p.Ile891Met)
|
rs146006741
|
0.00001
|
|
NM_000179.3(MSH6):c.2677C>G (p.Leu893Val)
|
rs370754319
|
0.00001
|
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
|
NM_000179.3(MSH6):c.3215G>T (p.Gly1072Val)
|
rs781243845
|
0.00001
|
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
|
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)
|
rs747441460
|
0.00001
|
|
NM_000179.3(MSH6):c.3363G>C (p.Glu1121Asp)
|
rs377226210
|
0.00001
|
|
NM_000179.3(MSH6):c.336C>A (p.Asn112Lys)
|
rs1182444882
|
0.00001
|
|
NM_000179.3(MSH6):c.3383A>G (p.Tyr1128Cys)
|
rs587779261
|
0.00001
|
|
NM_000179.3(MSH6):c.3675G>A (p.Thr1225=)
|
rs730881820
|
0.00001
|
|
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)
|
rs730881807
|
0.00001
|
|
NM_000179.3(MSH6):c.3809T>A (p.Met1270Lys)
|
rs777617756
|
0.00001
|
|
NM_000179.3(MSH6):c.3819T>G (p.Asn1273Lys)
|
rs759642651
|
0.00001
|
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
|
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe)
|
rs192740549
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>T (p.Arg178Leu)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.566A>T (p.Lys189Met)
|
rs1060502889
|
0.00001
|
|
NM_000179.3(MSH6):c.637A>C (p.Thr213Pro)
|
rs876659071
|
0.00001
|
|
NM_000179.3(MSH6):c.644T>G (p.Val215Gly)
|
rs587779946
|
0.00001
|
|
NM_000179.3(MSH6):c.776G>A (p.Gly259Asp)
|
rs1404814811
|
0.00001
|
|
NM_000179.3(MSH6):c.792A>C (p.Glu264Asp)
|
rs876661253
|
0.00001
|
|
NM_000179.3(MSH6):c.869T>C (p.Leu290Pro)
|
rs751309721
|
0.00001
|
|
NM_000179.3(MSH6):c.881T>G (p.Val294Gly)
|
rs1482153450
|
0.00001
|
|
NM_000179.3(MSH6):c.944C>G (p.Ser315Cys)
|
rs63750491
|
0.00001
|
|
NM_000179.3(MSH6):c.979A>G (p.Thr327Ala)
|
rs730881814
|
0.00001
|
|
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)
|
rs587781983
|
0.00001
|
|
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)
|
rs149938052
|
0.00001
|
|
NM_000186.4(CFH):c.879G>A (p.Gln293=)
|
rs769615121
|
0.00001
|
|
NM_000198.4(HSD3B2):c.308-9C>T
|
rs375047799
|
0.00001
|
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
|
NM_000207.3(INS):c.-18+22G>A
|
rs1051986248
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)
|
rs775362401
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys)
|
rs148266527
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1685+9G>A
|
rs545535640
|
0.00001
|
|
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)
|
rs104895101
|
0.00001
|
|
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)
|
rs104895199
|
0.00001
|
|
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)
|
rs749052818
|
0.00001
|
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
|
NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser)
|
rs63750271
|
0.00001
|
|
NM_000249.4(MLH1):c.1731+8T>C
|
rs370108219
|
0.00001
|
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
|
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)
|
rs750650349
|
0.00001
|
|
NM_000249.4(MLH1):c.665A>G (p.Asn222Ser)
|
rs766517126
|
0.00001
|
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
|
NM_000251.3(MSH2):c.1108G>A (p.Ala370Thr)
|
rs1064794109
|
0.00001
|
|
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)
|
rs774539871
|
0.00001
|
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00001
|
|
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)
|
rs587782278
|
0.00001
|
|
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)
|
rs587781627
|
0.00001
|
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
|
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)
|
rs55653533
|
0.00001
|
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
|
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)
|
rs267607967
|
0.00001
|
|
NM_000251.3(MSH2):c.1729A>G (p.Ile577Val)
|
rs774985655
|
0.00001
|
|
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile)
|
rs1553368510
|
0.00001
|
|
NM_000251.3(MSH2):c.1792G>A (p.Val598Met)
|
rs778152746
|
0.00001
|
|
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)
|
rs779447213
|
0.00001
|
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
|
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)
|
rs771695599
|
0.00001
|
|
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys)
|
rs185356145
|
0.00001
|
|
NM_000251.3(MSH2):c.1987A>G (p.Met663Val)
|
rs752241362
|
0.00001
|
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
|
NM_000251.3(MSH2):c.2053A>G (p.Ile685Val)
|
rs1060499876
|
0.00001
|
|
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
|
rs63750790
|
0.00001
|
|
NM_000251.3(MSH2):c.2110A>G (p.Ile704Val)
|
rs730881764
|
0.00001
|
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00001
|
|
NM_000251.3(MSH2):c.227A>C (p.Gln76Pro)
|
rs1281311713
|
0.00001
|
|
NM_000251.3(MSH2):c.2315C>G (p.Thr772Arg)
|
rs1263286428
|
0.00001
|
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
|
NM_000251.3(MSH2):c.2447A>G (p.Gln816Arg)
|
rs768572053
|
0.00001
|
|
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)
|
rs373393954
|
0.00001
|
|
NM_000251.3(MSH2):c.2545C>G (p.Leu849Val)
|
rs587778527
|
0.00001
|
|
NM_000251.3(MSH2):c.2571T>G (p.Ile857Met)
|
rs1400051085
|
0.00001
|
|
NM_000251.3(MSH2):c.2594T>C (p.Ile865Thr)
|
rs549759248
|
0.00001
|
|
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)
|
rs768983827
|
0.00001
|
|
NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)
|
rs1290935051
|
0.00001
|
|
NM_000251.3(MSH2):c.266T>C (p.Val89Ala)
|
rs876659747
|
0.00001
|
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
|
NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)
|
rs63749907
|
0.00001
|
|
NM_000251.3(MSH2):c.439G>A (p.Val147Ile)
|
rs773125415
|
0.00001
|
|
NM_000251.3(MSH2):c.509A>G (p.Gln170Arg)
|
rs1114167865
|
0.00001
|
|
NM_000251.3(MSH2):c.574A>T (p.Ile192Phe)
|
rs768006988
|
0.00001
|
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
|
NM_000251.3(MSH2):c.725A>G (p.Asn242Ser)
|
rs779051492
|
0.00001
|
|
NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)
|
rs138857091
|
0.00001
|
|
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)
|
rs587779178
|
0.00001
|
|
NM_000251.3(MSH2):c.782T>C (p.Met261Thr)
|
rs63749969
|
0.00001
|
|
NM_000251.3(MSH2):c.962C>G (p.Thr321Ser)
|
rs1233448699
|
0.00001
|
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
|
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)
|
rs753237286
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys)
|
rs780449220
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)
|
rs397516018
|
0.00001
|
|
NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys)
|
rs786205356
|
0.00001
|
|
NM_000257.4(MYH7):c.3474C>T (p.Ser1158=)
|
rs587780395
|
0.00001
|
|
NM_000257.4(MYH7):c.4520-3C>T
|
rs549509054
|
0.00001
|
|
NM_000257.4(MYH7):c.4659C>T (p.His1553=)
|
rs570079347
|
0.00001
|
|
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=)
|
rs782163200
|
0.00001
|
|
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152
|
0.00001
|
|
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu)
|
rs372546614
|
0.00001
|
|
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=)
|
rs756638660
|
0.00001
|
|
NM_000268.4(NF2):c.1271G>A (p.Arg424His)
|
rs751182657
|
0.00001
|
|
NM_000268.4(NF2):c.296A>G (p.Lys99Arg)
|
rs181794923
|
0.00001
|
|
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
|
rs769308417
|
0.00001
|
|
NM_000293.3(PHKB):c.595-5T>G
|
rs369184808
|
0.00001
|
|
NM_000314.8(PTEN):c.210-9T>C
|
rs751744545
|
0.00001
|
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
|
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)
|
rs767011440
|
0.00001
|
|
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser)
|
rs1470523018
|
0.00001
|
|
NM_000321.3(RB1):c.116C>T (p.Pro39Leu)
|
rs1180053508
|
0.00001
|
|
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser)
|
rs1007286459
|
0.00001
|
|
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)
|
rs374523971
|
0.00001
|
|
NM_000321.3(RB1):c.2521-7T>A
|
rs371150038
|
0.00001
|
|
NM_000321.3(RB1):c.694C>T (p.Pro232Ser)
|
rs1195873978
|
0.00001
|
|
NM_000321.3(RB1):c.898A>C (p.Met300Leu)
|
rs1060503086
|
0.00001
|
|
NM_000321.3(RB1):c.89A>C (p.Glu30Ala)
|
rs1482284498
|
0.00001
|
|
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu)
|
rs765721076
|
0.00001
|
|
NM_000335.5(SCN5A):c.1141-4C>T
|
rs794728840
|
0.00001
|
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
|
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
|
rs780761880
|
0.00001
|
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
|
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=)
|
rs750526487
|
0.00001
|
|
NM_000350.3(ABCA4):c.769-3C>T
|
rs368010652
|
0.00001
|
|
NM_000352.6(ABCC8):c.279C>A (p.Ile93=)
|
rs550990673
|
0.00001
|
|
NM_000352.6(ABCC8):c.3558-8C>T
|
rs544550330
|
0.00001
|
|
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)
|
rs765708759
|
0.00001
|
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
|
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)
|
rs547430068
|
0.00001
|
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
|
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys)
|
rs143502728
|
0.00001
|
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
|
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)
|
rs199800297
|
0.00001
|
|
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)
|
rs587778722
|
0.00001
|
|
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)
|
rs118203342
|
0.00001
|
|
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg)
|
rs767708806
|
0.00001
|
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
|
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser)
|
rs1330089369
|
0.00001
|
|
NM_000368.5(TSC1):c.1779A>G (p.Arg593=)
|
rs964191879
|
0.00001
|
|
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)
|
rs766438395
|
0.00001
|
|
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr)
|
rs914628341
|
0.00001
|
|
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg)
|
rs1419720341
|
0.00001
|
|
NM_000368.5(TSC1):c.2066G>A (p.Arg689His)
|
rs200827913
|
0.00001
|
|
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)
|
rs776386313
|
0.00001
|
|
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr)
|
rs760208449
|
0.00001
|
|
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)
|
rs751362258
|
0.00001
|
|
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859
|
0.00001
|
|
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)
|
rs764738792
|
0.00001
|
|
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)
|
rs796053462
|
0.00001
|
|
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)
|
rs587778726
|
0.00001
|
|
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg)
|
rs1167362899
|
0.00001
|
|
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val)
|
rs776694051
|
0.00001
|
|
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
|
rs118203750
|
0.00001
|
|
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=)
|
rs754282309
|
0.00001
|
|
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)
|
rs775420987
|
0.00001
|
|
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)
|
rs751398082
|
0.00001
|
|
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro)
|
rs764018144
|
0.00001
|
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
|
NM_000368.5(TSC1):c.830T>C (p.Val277Ala)
|
rs200749357
|
0.00001
|
|
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)
|
rs770653972
|
0.00001
|
|
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile)
|
rs370916731
|
0.00001
|
|
NM_000371.4(TTR):c.337-3T>C
|
rs774027595
|
0.00001
|
|
NM_000371.4(TTR):c.70-16T>C
|
rs759512847
|
0.00001
|
|
NM_000381.4(MID1):c.1279G>A (p.Val427Ile)
|
rs755985917
|
0.00001
|
|
NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe)
|
rs571485213
|
0.00001
|
|
NM_000384.3(APOB):c.12025G>A (p.Val4009Met)
|
rs140424976
|
0.00001
|
|
NM_000384.3(APOB):c.13154G>A (p.Arg4385His)
|
rs533755016
|
0.00001
|
|
NM_000384.3(APOB):c.2333G>A (p.Arg778His)
|
rs201595604
|
0.00001
|
|
NM_000384.3(APOB):c.3829C>T (p.Leu1277Phe)
|
rs544542990
|
0.00001
|
|
NM_000388.4(CASR):c.1297G>C (p.Asp433His)
|
rs199511990
|
0.00001
|
|
NM_000400.4(ERCC2):c.1195C>T (p.Leu399Phe)
|
rs551211003
|
0.00001
|
|
NM_000424.4(KRT5):c.86G>A (p.Arg29His)
|
rs543574061
|
0.00001
|
|
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=)
|
rs758682063
|
0.00001
|
|
NM_000451.4(SHOX):c.702G>A (p.Ala234=)
|
rs576542942
|
0.00001
|
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00001
|
|
NM_000455.5(STK11):c.1129G>A (p.Ala377Thr)
|
rs768870802
|
0.00001
|
|
NM_000455.5(STK11):c.1135C>A (p.His379Asn)
|
rs762124698
|
0.00001
|
|
NM_000455.5(STK11):c.1283C>T (p.Ser428Leu)
|
rs587781537
|
0.00001
|
|
NM_000455.5(STK11):c.464+8C>T
|
rs863224669
|
0.00001
|
|
NM_000455.5(STK11):c.579C>T (p.Ser193=)
|
rs730881961
|
0.00001
|
|
NM_000455.5(STK11):c.921-8G>A
|
rs863224362
|
0.00001
|
|
NM_000455.5(STK11):c.947C>G (p.Ala316Gly)
|
rs751709130
|
0.00001
|
|
NM_000455.5(STK11):c.957A>G (p.Pro319=)
|
rs755126393
|
0.00001
|
|
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln)
|
rs782374254
|
0.00001
|
|
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)
|
rs587780285
|
0.00001
|
|
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)
|
rs782554626
|
0.00001
|
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
|
NM_000512.5(GALNS):c.567-3C>T
|
rs549597016
|
0.00001
|
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
|
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val)
|
rs879254776
|
0.00001
|
|
NM_000527.5(LDLR):c.1911C>T (p.Ser637=)
|
rs373570349
|
0.00001
|
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
|
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr)
|
rs759440817
|
0.00001
|
|
NM_000527.5(LDLR):c.48C>A (p.Leu16=)
|
rs565675103
|
0.00001
|
|
NM_000531.6(OTC):c.722G>A (p.Gly241Asp)
|
rs1461226043
|
0.00001
|
|
NM_000535.7(PMS2):c.711A>G (p.Gln237=)
|
rs368608818
|
0.00001
|
|
NM_000535.7(PMS2):c.804-15A>G
|
rs1448706115
|
0.00001
|
|
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)
|
rs557047531
|
0.00001
|
|
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala)
|
rs200622493
|
0.00001
|
|
NM_000541.5(SAG):c.511A>G (p.Lys171Glu)
|
rs552862207
|
0.00001
|
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
|
NM_000546.6(TP53):c.145G>A (p.Asp49Asn)
|
rs587780728
|
0.00001
|
|
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)
|
rs45517144
|
0.00001
|
|
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)
|
rs758511419
|
0.00001
|
|
NM_000548.5(TSC2):c.1154A>G (p.His385Arg)
|
rs757353933
|
0.00001
|
|
NM_000548.5(TSC2):c.131T>C (p.Ile44Thr)
|
rs1190102918
|
0.00001
|
|
NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly)
|
rs876659386
|
0.00001
|
|
NM_000548.5(TSC2):c.1588A>G (p.Ile530Val)
|
rs786203470
|
0.00001
|
|
NM_000548.5(TSC2):c.1610G>A (p.Arg537His)
|
rs372681603
|
0.00001
|
|
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)
|
rs752953762
|
0.00001
|
|
NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr)
|
rs777121421
|
0.00001
|
|
NM_000548.5(TSC2):c.1685C>T (p.Thr562Ile)
|
rs1463643429
|
0.00001
|
|
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val)
|
rs763863196
|
0.00001
|
|
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)
|
rs1015282988
|
0.00001
|
|
NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr)
|
rs753235037
|
0.00001
|
|
NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn)
|
rs1334081822
|
0.00001
|
|
NM_000548.5(TSC2):c.1945A>G (p.Met649Val)
|
rs762331610
|
0.00001
|
|
NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser)
|
rs1262368552
|
0.00001
|
|
NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr)
|
rs574205203
|
0.00001
|
|
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe)
|
rs758961134
|
0.00001
|
|
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile)
|
rs549612492
|
0.00001
|
|
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)
|
rs745687916
|
0.00001
|
|
NM_000548.5(TSC2):c.257C>T (p.Ala86Val)
|
rs1369594860
|
0.00001
|
|
NM_000548.5(TSC2):c.2592G>C (p.Gln864His)
|
rs763099064
|
0.00001
|
|
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys)
|
rs796053512
|
0.00001
|
|
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys)
|
rs774758044
|
0.00001
|
|
NM_000548.5(TSC2):c.2742+3G>A
|
rs373935836
|
0.00001
|
|
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn)
|
rs144329595
|
0.00001
|
|
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys)
|
rs147523833
|
0.00001
|
|
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys)
|
rs780981335
|
0.00001
|
|
NM_000548.5(TSC2):c.2954A>G (p.His985Arg)
|
rs1330306605
|
0.00001
|
|
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val)
|
rs754276150
|
0.00001
|
|
NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln)
|
rs751955670
|
0.00001
|
|
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)
|
rs773545852
|
0.00001
|
|
NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp)
|
rs747420910
|
0.00001
|
|
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr)
|
rs763122999
|
0.00001
|
|
NM_000548.5(TSC2):c.3401G>A (p.Gly1134Asp)
|
rs766223343
|
0.00001
|
|
NM_000548.5(TSC2):c.3487G>T (p.Ala1163Ser)
|
rs560522093
|
0.00001
|
|
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)
|
rs751708490
|
0.00001
|
|
NM_000548.5(TSC2):c.375G>C (p.Lys125Asn)
|
rs778928295
|
0.00001
|
|
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser)
|
rs757010959
|
0.00001
|
|
NM_000548.5(TSC2):c.4039C>G (p.Leu1347Val)
|
rs377050648
|
0.00001
|
|
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)
|
rs201979616
|
0.00001
|
|
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)
|
rs397514997
|
0.00001
|
|
NM_000548.5(TSC2):c.4115T>C (p.Val1372Ala)
|
rs1300203299
|
0.00001
|
|
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg)
|
rs562443546
|
0.00001
|
|
NM_000548.5(TSC2):c.4279A>G (p.Ser1427Gly)
|
rs1248855623
|
0.00001
|
|
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr)
|
rs764533757
|
0.00001
|
|
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln)
|
rs45448791
|
0.00001
|
|
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)
|
rs1459518095
|
0.00001
|
|
NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr)
|
rs1173459869
|
0.00001
|
|
NM_000548.5(TSC2):c.4636G>A (p.Ala1546Thr)
|
rs1332979299
|
0.00001
|
|
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu)
|
rs373635516
|
0.00001
|
|
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met)
|
rs886051796
|
0.00001
|
|
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val)
|
rs45517394
|
0.00001
|
|
NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr)
|
rs758246234
|
0.00001
|
|
NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu)
|
rs781139561
|
0.00001
|
|
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn)
|
rs138831802
|
0.00001
|
|
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr)
|
rs1555441265
|
0.00001
|
|
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)
|
rs748947919
|
0.00001
|
|
NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp)
|
rs1473538868
|
0.00001
|
|
NM_000548.5(TSC2):c.5386C>T (p.Leu1796Phe)
|
rs45455398
|
0.00001
|
|
NM_000548.5(TSC2):c.643A>G (p.Ile215Val)
|
rs1293515155
|
0.00001
|
|
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro)
|
rs768623382
|
0.00001
|
|
NM_000548.5(TSC2):c.745G>A (p.Val249Ile)
|
rs750649974
|
0.00001
|
|
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys)
|
rs1305592691
|
0.00001
|
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
|
NM_000548.5(TSC2):c.923G>A (p.Arg308Gln)
|
rs1213252028
|
0.00001
|
|
NM_000548.5(TSC2):c.932C>G (p.Ser311Cys)
|
rs1475672414
|
0.00001
|
|
NM_000548.5(TSC2):c.97G>A (p.Gly33Ser)
|
rs370230541
|
0.00001
|
|
NM_000554.6(CRX):c.560C>T (p.Thr187Ile)
|
rs758125850
|
0.00001
|
|
NM_000637.5(GSR):c.882+6G>A
|
rs558898648
|
0.00001
|
|
NM_000702.4(ATP1A2):c.3034+6C>A
|
rs574788908
|
0.00001
|
|
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met)
|
rs760543068
|
0.00001
|
|
NM_000726.5(CACNB4):c.288C>T (p.Ala96=)
|
rs558998873
|
0.00001
|
|
NM_000843.4(GRM6):c.2136G>A (p.Met712Ile)
|
rs754893934
|
0.00001
|
|
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn)
|
rs1476737505
|
0.00001
|
|
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met)
|
rs777065935
|
0.00001
|
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00001
|
|
NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val)
|
rs147599098
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.1786A>G (p.Asn596Asp)
|
rs1404043155
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.3371A>T (p.Gln1124Leu)
|
rs992677972
|
0.00001
|
|
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=)
|
rs529177486
|
0.00001
|
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
|
NM_001035.3(RYR2):c.2253T>G (p.Thr751=)
|
rs762905211
|
0.00001
|
|
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)
|
rs536080941
|
0.00001
|
|
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)
|
rs377763336
|
0.00001
|
|
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys)
|
rs760965671
|
0.00001
|
|
NM_001040108.2(MLH3):c.3784C>T (p.Pro1262Ser)
|
rs372912259
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=)
|
rs1177406324
|
0.00001
|
|
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
|
NM_001042492.3(NF1):c.3362A>G (p.Glu1121Gly)
|
rs757222815
|
0.00001
|
|
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
|
NM_001042492.3(NF1):c.3975-4G>A
|
rs760207624
|
0.00001
|
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
|
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met)
|
rs368149035
|
0.00001
|
|
NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg)
|
rs578112440
|
0.00001
|
|
NM_001083116.3(PRF1):c.111C>T (p.Phe37=)
|
rs547321451
|
0.00001
|
|
NM_001083961.2(WDR62):c.4033C>T (p.Arg1345Cys)
|
rs201363122
|
0.00001
|
|
NM_001100913.3(PACS2):c.1867A>G (p.Asn623Asp)
|
rs782192283
|
0.00001
|
|
NM_001100913.3(PACS2):c.2272G>A (p.Glu758Lys)
|
rs140331410
|
0.00001
|
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
|
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)
|
rs1557178278
|
0.00001
|
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
|
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)
|
rs781993685
|
0.00001
|
|
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys)
|
rs782307604
|
0.00001
|
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
|
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu)
|
rs61753006
|
0.00001
|
|
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)
|
rs267608633
|
0.00001
|
|
NM_001110792.2(MECP2):c.583G>C (p.Gly195Arg)
|
rs61749706
|
0.00001
|
|
NM_001110792.2(MECP2):c.62+5380C>T
|
rs267608324
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=)
|
rs782725826
|
0.00001
|
|
NM_001114753.3(ENG):c.1273-5C>T
|
rs779103881
|
0.00001
|
|
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
|
rs770290260
|
0.00001
|
|
NM_001114753.3(ENG):c.680A>G (p.His227Arg)
|
rs377548944
|
0.00001
|
|
NM_001114753.3(ENG):c.943G>A (p.Val315Met)
|
rs763508329
|
0.00001
|
|
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys)
|
rs758096402
|
0.00001
|
|
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val)
|
rs150572069
|
0.00001
|
|
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=)
|
rs372742479
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=)
|
rs1332817040
|
0.00001
|
|
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His)
|
rs757460628
|
0.00001
|
|
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)
|
rs571559303
|
0.00001
|
|
NM_001130987.2(DYSF):c.3898-4C>G
|
rs555206040
|
0.00001
|
|
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)
|
rs577921112
|
0.00001
|
|
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg)
|
rs376463335
|
0.00001
|
|
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn)
|
rs957430941
|
0.00001
|
|
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys)
|
rs551819918
|
0.00001
|
|
NM_001134363.3(RBM20):c.788A>G (p.Tyr263Cys)
|
rs886046701
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys)
|
rs907173644
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4744G>A (p.Glu1582Lys)
|
rs1040063411
|
0.00001
|
|
NM_001148.6(ANK2):c.9880A>C (p.Asn3294His)
|
rs763211298
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)
|
rs561701030
|
0.00001
|
|
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=)
|
rs774372075
|
0.00001
|
|
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=)
|
rs547109690
|
0.00001
|
|
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn)
|
rs752928207
|
0.00001
|
|
NM_001164508.2(NEB):c.1839C>T (p.Ser613=)
|
rs751976783
|
0.00001
|
|
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu)
|
rs763365852
|
0.00001
|
|
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn)
|
rs534646949
|
0.00001
|
|
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr)
|
rs756130763
|
0.00001
|
|
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln)
|
rs369456343
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=)
|
rs121918763
|
0.00001
|
|
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu)
|
rs780366664
|
0.00001
|
|
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)
|
rs1042085577
|
0.00001
|
|
NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg)
|
rs780870758
|
0.00001
|
|
NM_001197104.2(KMT2A):c.8976G>A (p.Met2992Ile)
|
rs781817780
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.2635C>T (p.Arg879Trp)
|
rs771126920
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.6641C>T (p.Pro2214Leu)
|
rs767278261
|
0.00001
|
|
NM_001256071.3(RNF213):c.10567G>A (p.Gly3523Arg)
|
rs547158013
|
0.00001
|
|
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)
|
rs528502993
|
0.00001
|
|
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)
|
rs548677252
|
0.00001
|
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
|
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)
|
rs373963067
|
0.00001
|
|
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)
|
rs772600691
|
0.00001
|
|
NM_001267550.2(TTN):c.40877-7A>G
|
rs727505201
|
0.00001
|
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
|
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)
|
rs372618781
|
0.00001
|
|
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)
|
rs535008556
|
0.00001
|
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
|
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=)
|
rs587780489
|
0.00001
|
|
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)
|
rs529529087
|
0.00001
|
|
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)
|
rs562680371
|
0.00001
|
|
NM_001267550.2(TTN):c.6423G>A (p.Val2141=)
|
rs768989325
|
0.00001
|
|
NM_001267550.2(TTN):c.64968A>G (p.Pro21656=)
|
rs376921740
|
0.00001
|
|
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)
|
rs398124455
|
0.00001
|
|
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His)
|
rs140018785
|
0.00001
|
|
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu)
|
rs55713856
|
0.00001
|
|
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met)
|
rs556000493
|
0.00001
|
|
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)
|
rs553668520
|
0.00001
|
|
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)
|
rs531432790
|
0.00001
|
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11271C>G (p.Ile3757Met)
|
rs757371608
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11459T>C (p.Val3820Ala)
|
rs760795257
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11872A>C (p.Lys3958Gln)
|
rs1360840874
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11882A>G (p.Asn3961Ser)
|
rs186794216
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12329C>A (p.Pro4110His)
|
rs753983449
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2440G>A (p.Glu814Lys)
|
rs529566924
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2689G>A (p.Ala897Thr)
|
rs767822847
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2993A>G (p.Asn998Ser)
|
rs368692202
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3173C>A (p.Ala1058Asp)
|
rs756753955
|
0.00001
|
|
NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu)
|
rs374802008
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3497A>C (p.His1166Pro)
|
rs575476197
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu)
|
rs753773546
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=)
|
rs564202359
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4772C>T (p.Thr1591Met)
|
rs778000913
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4805A>G (p.Asp1602Gly)
|
rs548213797
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5350A>G (p.Ile1784Val)
|
rs764134388
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val)
|
rs776549742
|
0.00001
|
|
NM_001277115.2(DNAH11):c.684A>G (p.Ser228=)
|
rs886062171
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6867A>G (p.Ala2289=)
|
rs745494770
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7273G>C (p.Asp2425His)
|
rs374151422
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7379A>G (p.Lys2460Arg)
|
rs770671851
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8255A>T (p.Asp2752Val)
|
rs768309014
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8534G>A (p.Arg2845Gln)
|
rs372633683
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8680C>G (p.Leu2894Val)
|
rs778125255
|
0.00001
|
|
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)
|
rs201934527
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9176A>C (p.Tyr3059Ser)
|
rs781116833
|
0.00001
|
|
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val)
|
rs781860875
|
0.00001
|
|
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=)
|
rs375862497
|
0.00001
|
|
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His)
|
rs200402620
|
0.00001
|
|
NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg)
|
rs370260585
|
0.00001
|
|
NM_001291088.2(WDR87):c.5282A>T (p.Glu1761Val)
|
rs917453243
|
0.00001
|
|
NM_001318510.2(ACSL4):c.90A>G (p.Ile30Met)
|
rs750659716
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=)
|
rs727503847
|
0.00001
|
|
NM_001330260.2(SCN8A):c.270G>T (p.Thr90=)
|
rs371712630
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys)
|
rs1462221945
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile)
|
rs1384182085
|
0.00001
|
|
NM_001356.5(DDX3X):c.1170+4C>T
|
rs745429365
|
0.00001
|
|
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)
|
rs368473756
|
0.00001
|
|
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys)
|
rs763256222
|
0.00001
|
|
NM_001367624.2(ZNF469):c.1768G>A (p.Glu590Lys)
|
rs571115191
|
0.00001
|
|
NM_001367721.1(CASK):c.1503+3A>G
|
rs1468715588
|
0.00001
|
|
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr)
|
rs398123811
|
0.00001
|
|
NM_001367721.1(CASK):c.2325C>T (p.Thr775=)
|
rs760957859
|
0.00001
|
|
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His)
|
rs200994058
|
0.00001
|
|
NM_001369.3(DNAH5):c.7484C>T (p.Ala2495Val)
|
rs768364281
|
0.00001
|
|
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr)
|
rs779589005
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1319G>C (p.Gly440Ala)
|
rs1332073619
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1934T>A (p.Ile645Asn)
|
rs1057522610
|
0.00001
|
|
NM_001374828.1(ARID1B):c.347C>T (p.Ala116Val)
|
rs1325414473
|
0.00001
|
|
NM_001374828.1(ARID1B):c.4611G>A (p.Pro1537=)
|
rs749608995
|
0.00001
|
|
NM_001374828.1(ARID1B):c.5902C>T (p.Arg1968Cys)
|
rs766931727
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.5335-14A>G
|
rs372488002
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.8946+10A>C
|
rs550521675
|
0.00001
|
|
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)
|
rs536900412
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val)
|
rs575305602
|
0.00001
|
|
NM_001458.5(FLNC):c.2376C>T (p.Ser792=)
|
rs754097557
|
0.00001
|
|
NM_001830.4(CLCN4):c.547A>T (p.Ile183Leu)
|
rs769632007
|
0.00001
|
|
NM_001844.5(COL2A1):c.1819C>T (p.Pro607Ser)
|
rs763003390
|
0.00001
|
|
NM_001844.5(COL2A1):c.271A>G (p.Thr91Ala)
|
rs1252498034
|
0.00001
|
|
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=)
|
rs566132150
|
0.00001
|
|
NM_001844.5(COL2A1):c.4115A>G (p.Asn1372Ser)
|
rs771399441
|
0.00001
|
|
NM_001844.5(COL2A1):c.4376G>A (p.Arg1459His)
|
rs777416478
|
0.00001
|
|
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg)
|
rs750386918
|
0.00001
|
|
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)
|
rs1135057
|
0.00001
|
|
NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr)
|
rs376421641
|
0.00001
|
|
NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys)
|
rs995254814
|
0.00001
|
|
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile)
|
rs755173952
|
0.00001
|
|
NM_001854.4(COL11A1):c.1493G>A (p.Arg498His)
|
rs545363972
|
0.00001
|
|
NM_001854.4(COL11A1):c.1624C>T (p.Pro542Ser)
|
rs745841296
|
0.00001
|
|
NM_001854.4(COL11A1):c.1859C>T (p.Pro620Leu)
|
rs777479105
|
0.00001
|
|
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=)
|
rs544663655
|
0.00001
|
|
NM_001854.4(COL11A1):c.2951G>A (p.Arg984His)
|
rs147271219
|
0.00001
|
|
NM_001854.4(COL11A1):c.3077G>A (p.Arg1026His)
|
rs944650989
|
0.00001
|
|
NM_001854.4(COL11A1):c.3185G>A (p.Arg1062His)
|
rs1234848212
|
0.00001
|
|
NM_001854.4(COL11A1):c.331A>T (p.Ile111Phe)
|
rs759153754
|
0.00001
|
|
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser)
|
rs778311240
|
0.00001
|
|
NM_001854.4(COL11A1):c.3869C>G (p.Ala1290Gly)
|
rs199555214
|
0.00001
|
|
NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu)
|
rs543199135
|
0.00001
|
|
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly)
|
rs756511227
|
0.00001
|
|
NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro)
|
rs865904271
|
0.00001
|
|
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr)
|
rs146954848
|
0.00001
|
|
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp)
|
rs780211105
|
0.00001
|
|
NM_001854.4(COL11A1):c.5120G>A (p.Arg1707Gln)
|
rs751989395
|
0.00001
|
|
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met)
|
rs398123652
|
0.00001
|
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
|
NM_001927.4(DES):c.1180G>A (p.Val394Met)
|
rs776786349
|
0.00001
|
|
NM_001961.4(EEF2):c.1347-8T>G
|
rs376174565
|
0.00001
|
|
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)
|
rs774411234
|
0.00001
|
|
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln)
|
rs747507457
|
0.00001
|
|
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)
|
rs765867245
|
0.00001
|
|
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)
|
rs199808954
|
0.00001
|
|
NM_002230.4(JUP):c.335A>G (p.Asn112Ser)
|
rs372364561
|
0.00001
|
|
NM_002470.4(MYH3):c.375T>C (p.Thr125=)
|
rs762734569
|
0.00001
|
|
NM_002473.6(MYH9):c.2618C>T (p.Thr873Met)
|
rs763516009
|
0.00001
|
|
NM_002473.6(MYH9):c.4332G>A (p.Lys1444=)
|
rs758755198
|
0.00001
|
|
NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu)
|
rs750410479
|
0.00001
|
|
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His)
|
rs777701033
|
0.00001
|
|
NM_002474.3(MYH11):c.5614-5G>A
|
rs201028938
|
0.00001
|
|
NM_002485.5(NBN):c.321-17C>G
|
rs763878712
|
0.00001
|
|
NM_002529.4(NTRK1):c.1597C>T (p.Leu533=)
|
rs760564817
|
0.00001
|
|
NM_002691.4(POLD1):c.1148C>T (p.Thr383Ile)
|
rs201654210
|
0.00001
|
|
NM_002691.4(POLD1):c.2565-13C>T
|
rs559638270
|
0.00001
|
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00001
|
|
NM_002693.3(POLG):c.2040G>A (p.Leu680=)
|
rs367740265
|
0.00001
|
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
0.00001
|
|
NM_003000.3(SDHB):c.541-3C>T
|
rs751920183
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3546+9G>A
|
rs544551192
|
0.00001
|
|
NM_003119.4(SPG7):c.1664-11C>A
|
rs574656941
|
0.00001
|
|
NM_003126.4(SPTA1):c.3314A>C (p.Asn1105Thr)
|
rs200193956
|
0.00001
|
|
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)
|
rs199547344
|
0.00001
|
|
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile)
|
rs150618729
|
0.00001
|
|
NM_003238.6(TGFB2):c.37C>A (p.His13Asn)
|
rs763918203
|
0.00001
|
|
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)
|
rs780280433
|
0.00001
|
|
NM_003280.3(TNNC1):c.144G>T (p.Leu48=)
|
rs1251887019
|
0.00001
|
|
NM_003465.3(CHIT1):c.365C>T (p.Ser122Leu)
|
rs757305430
|
0.00001
|
|
NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val)
|
rs1299043216
|
0.00001
|
|
NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser)
|
rs1342235871
|
0.00001
|
|
NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala)
|
rs532360713
|
0.00001
|
|
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe)
|
rs750774484
|
0.00001
|
|
NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser)
|
rs761594079
|
0.00001
|
|
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe)
|
rs771209224
|
0.00001
|
|
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His)
|
rs587783694
|
0.00001
|
|
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys)
|
rs781012274
|
0.00001
|
|
NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser)
|
rs943690439
|
0.00001
|
|
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His)
|
rs745599611
|
0.00001
|
|
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu)
|
rs776242478
|
0.00001
|
|
NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu)
|
rs371342351
|
0.00001
|
|
NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu)
|
rs765863571
|
0.00001
|
|
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn)
|
rs779260688
|
0.00001
|
|
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg)
|
rs587778458
|
0.00001
|
|
NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu)
|
rs765343914
|
0.00001
|
|
NM_003482.4(KMT2D):c.6314G>A (p.Arg2105His)
|
rs772506992
|
0.00001
|
|
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr)
|
rs587783724
|
0.00001
|
|
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp)
|
rs587783726
|
0.00001
|
|
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu)
|
rs780776865
|
0.00001
|
|
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)
|
rs1258008817
|
0.00001
|
|
NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg)
|
rs371231725
|
0.00001
|
|
NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser)
|
rs746344900
|
0.00001
|
|
NM_003865.3(HESX1):c.183T>C (p.His61=)
|
rs374187836
|
0.00001
|
|
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)
|
rs774355338
|
0.00001
|
|
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr)
|
rs746585235
|
0.00001
|
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
|
NM_004086.3(COCH):c.239+5G>A
|
rs563163157
|
0.00001
|
|
NM_004113.6(FGF12):c.164C>T (p.Ala55Val)
|
rs200858435
|
0.00001
|
|
NM_004187.5(KDM5C):c.2830A>T (p.Arg944Trp)
|
rs1018074229
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)
|
rs587781522
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1274A>T (p.Tyr425Phe)
|
rs758599378
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr)
|
rs758309022
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1412G>A (p.Arg471His)
|
rs779371501
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1430A>G (p.Lys477Arg)
|
rs767995260
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr)
|
rs369966011
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val)
|
rs754607465
|
0.00001
|
|
NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr)
|
rs370091063
|
0.00001
|
|
NM_004329.3(BMPR1A):c.559C>T (p.Arg187Cys)
|
rs587782231
|
0.00001
|
|
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His)
|
rs746231785
|
0.00001
|
|
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)
|
rs143248687
|
0.00001
|
|
NM_004329.3(BMPR1A):c.628A>G (p.Ile210Val)
|
rs750274275
|
0.00001
|
|
NM_004329.3(BMPR1A):c.688A>G (p.Ile230Val)
|
rs730881433
|
0.00001
|
|
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr)
|
rs587780783
|
0.00001
|
|
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys)
|
rs750513716
|
0.00001
|
|
NM_004329.3(BMPR1A):c.818G>A (p.Arg273Gln)
|
rs762178061
|
0.00001
|
|
NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala)
|
rs748515167
|
0.00001
|
|
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)
|
rs587782856
|
0.00001
|
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
|
NM_004360.5(CDH1):c.199G>A (p.Ala67Thr)
|
rs1060501247
|
0.00001
|
|
NM_004360.5(CDH1):c.2071G>A (p.Ala691Thr)
|
rs876660560
|
0.00001
|
|
NM_004360.5(CDH1):c.2077G>A (p.Gly693Ser)
|
rs386833398
|
0.00001
|
|
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)
|
rs749306433
|
0.00001
|
|
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn)
|
rs201141645
|
0.00001
|
|
NM_004360.5(CDH1):c.595A>T (p.Thr199Ser)
|
rs876658424
|
0.00001
|
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
|
NM_004408.4(DNM1):c.1558-3C>T
|
rs546517702
|
0.00001
|
|
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)
|
rs748790273
|
0.00001
|
|
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)
|
rs185367490
|
0.00001
|
|
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
|
rs201133637
|
0.00001
|
|
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)
|
rs368869076
|
0.00001
|
|
NM_004415.4(DSP):c.7767A>G (p.Ser2589=)
|
rs755928079
|
0.00001
|
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
|
NM_004415.4(DSP):c.8217G>A (p.Pro2739=)
|
rs755508926
|
0.00001
|
|
NM_004655.4(AXIN2):c.261C>T (p.Gly87=)
|
rs1567769274
|
0.00001
|
|
NM_004655.4(AXIN2):c.721T>G (p.Cys241Gly)
|
rs370549410
|
0.00001
|
|
NM_004656.4(BAP1):c.572T>C (p.Ile191Thr)
|
rs752793866
|
0.00001
|
|
NM_004714.3(DYRK1B):c.625G>A (p.Val209Ile)
|
rs556237495
|
0.00001
|
|
NM_004817.4(TJP2):c.853C>T (p.Arg285Cys)
|
rs546327568
|
0.00001
|
|
NM_004958.4(MTOR):c.1883G>A (p.Arg628His)
|
rs146049556
|
0.00001
|
|
NM_004958.4(MTOR):c.3269G>C (p.Arg1090Pro)
|
rs573466361
|
0.00001
|
|
NM_004958.4(MTOR):c.3791A>G (p.Asn1264Ser)
|
rs1010121578
|
0.00001
|
|
NM_004958.4(MTOR):c.6875A>G (p.Asn2292Ser)
|
rs374052581
|
0.00001
|
|
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu)
|
rs767889610
|
0.00001
|
|
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala)
|
rs142461221
|
0.00001
|
|
NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp)
|
rs553194272
|
0.00001
|
|
NM_005184.4(CALM3):c.4-3C>T
|
rs756875833
|
0.00001
|
|
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile)
|
rs587778249
|
0.00001
|
|
NM_005245.4(FAT1):c.2706A>C (p.Arg902Ser)
|
rs555992573
|
0.00001
|
|
NM_005429.5(VEGFC):c.1156C>T (p.Arg386Trp)
|
rs370465436
|
0.00001
|
|
NM_005458.8(GABBR2):c.1641G>C (p.Lys547Asn)
|
rs1228267111
|
0.00001
|
|
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)
|
rs202037304
|
0.00001
|
|
NM_005477.3(HCN4):c.2055C>T (p.Ser685=)
|
rs886042819
|
0.00001
|
|
NM_005518.4(HMGCS2):c.111T>C (p.Ser37=)
|
rs200675569
|
0.00001
|
|
NM_005619.5(RTN2):c.389C>T (p.Ala130Val)
|
rs745409162
|
0.00001
|
|
NM_005633.4(SOS1):c.3391+3T>C
|
rs761579423
|
0.00001
|
|
NM_005751.5(AKAP9):c.5830A>G (p.Ile1944Val)
|
rs587780849
|
0.00001
|
|
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln)
|
rs752685614
|
0.00001
|
|
NM_005876.5(SPEG):c.9661G>A (p.Ala3221Thr)
|
rs530008202
|
0.00001
|
|
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr)
|
rs548756379
|
0.00001
|
|
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu)
|
rs56160159
|
0.00001
|
|
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=)
|
rs548504035
|
0.00001
|
|
NM_006231.4(POLE):c.1359+4C>T
|
rs752118019
|
0.00001
|
|
NM_006231.4(POLE):c.391G>T (p.Val131Leu)
|
rs745601745
|
0.00001
|
|
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys)
|
rs542430685
|
0.00001
|
|
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser)
|
rs556887600
|
0.00001
|
|
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)
|
rs201767993
|
0.00001
|
|
NM_006517.5(SLC16A2):c.890G>A (p.Arg297His)
|
rs780086745
|
0.00001
|
|
NM_006579.3(EBP):c.219G>A (p.Gly73=)
|
rs781939301
|
0.00001
|
|
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met)
|
rs750975358
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu)
|
rs764259746
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His)
|
rs764952741
|
0.00001
|
|
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu)
|
rs748480687
|
0.00001
|
|
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu)
|
rs865922330
|
0.00001
|
|
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys)
|
rs771402351
|
0.00001
|
|
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu)
|
rs774886148
|
0.00001
|
|
NM_007078.3(LDB3):c.723C>T (p.Ser241=)
|
rs200580597
|
0.00001
|
|
NM_007118.4(TRIO):c.6725C>T (p.Thr2242Met)
|
rs55916212
|
0.00001
|
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
|
NM_007272.3(CTRC):c.369C>T (p.Ala123=)
|
rs749606141
|
0.00001
|
|
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu)
|
rs533967597
|
0.00001
|
|
NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu)
|
rs55842957
|
0.00001
|
|
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro)
|
rs80356946
|
0.00001
|
|
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)
|
rs56056711
|
0.00001
|
|
NM_007294.4(BRCA1):c.1227A>G (p.Val409=)
|
rs149349675
|
0.00001
|
|
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)
|
rs80356915
|
0.00001
|
|
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu)
|
rs56046357
|
0.00001
|
|
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)
|
rs80356964
|
0.00001
|
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
|
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)
|
rs80356859
|
0.00001
|
|
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)
|
rs1800064
|
0.00001
|
|
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser)
|
rs80356902
|
0.00001
|
|
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)
|
rs80357344
|
0.00001
|
|
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu)
|
rs80356912
|
0.00001
|
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
|
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)
|
rs80356948
|
0.00001
|
|
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)
|
rs876660005
|
0.00001
|
|
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)
|
rs876659731
|
0.00001
|
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
|
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile)
|
rs80357361
|
0.00001
|
|
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn)
|
rs431825394
|
0.00001
|
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
|
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)
|
rs80357272
|
0.00001
|
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
0.00001
|
|
NM_007294.4(BRCA1):c.370A>G (p.Ile124Val)
|
rs80357448
|
0.00001
|
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
|
NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser)
|
rs80357099
|
0.00001
|
|
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr)
|
rs80357160
|
0.00001
|
|
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)
|
rs80357457
|
0.00001
|
|
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu)
|
rs80357218
|
0.00001
|
|
NM_007294.4(BRCA1):c.4097-10G>A
|
rs80358057
|
0.00001
|
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
|
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)
|
rs80357365
|
0.00001
|
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
|
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)
|
rs80357470
|
0.00001
|
|
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val)
|
rs80357095
|
0.00001
|
|
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu)
|
rs80357180
|
0.00001
|
|
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys)
|
rs80357002
|
0.00001
|
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
|
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser)
|
rs28897695
|
0.00001
|
|
NM_007294.4(BRCA1):c.4991T>C (p.Leu1664Pro)
|
rs80357314
|
0.00001
|
|
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)
|
rs786203868
|
0.00001
|
|
NM_007294.4(BRCA1):c.5024C>T (p.Thr1675Ile)
|
rs150729791
|
0.00001
|
|
NM_007294.4(BRCA1):c.5075-9A>T
|
rs80358059
|
0.00001
|
|
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)
|
rs80357325
|
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.535T>C (p.Tyr179His)
|
rs587781761
|
0.00001
|
|
NM_007294.4(BRCA1):c.5419A>G (p.Ile1807Val)
|
rs786202721
|
0.00001
|
|
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser)
|
rs80357286
|
0.00001
|
|
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)
|
rs755427809
|
0.00001
|
|
NM_007294.4(BRCA1):c.564A>G (p.Glu188=)
|
rs768065826
|
0.00001
|
|
NM_007294.4(BRCA1):c.716A>G (p.His239Arg)
|
rs80357396
|
0.00001
|
|
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val)
|
rs80356865
|
0.00001
|
|
NM_007294.4(BRCA1):c.81-17C>G
|
rs757442952
|
0.00001
|
|
NM_007294.4(BRCA1):c.997A>G (p.Thr333Ala)
|
rs786201634
|
0.00001
|
|
NM_007317.3(KIF22):c.1310C>T (p.Pro437Leu)
|
rs372337472
|
0.00001
|
|
NM_013447.4(ADGRE2):c.1805T>C (p.Ile602Thr)
|
rs534741485
|
0.00001
|
|
NM_013447.4(ADGRE2):c.248C>T (p.Ser83Leu)
|
rs201617124
|
0.00001
|
|
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu)
|
rs1382549860
|
0.00001
|
|
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=)
|
rs368225080
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=)
|
rs773595457
|
0.00001
|
|
NM_014159.7(SETD2):c.2819G>T (p.Gly940Val)
|
rs751707090
|
0.00001
|
|
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile)
|
rs2041416610
|
0.00001
|
|
NM_014297.5(ETHE1):c.-47C>T
|
rs368890798
|
0.00001
|
|
NM_014363.6(SACS):c.11737G>C (p.Asp3913His)
|
rs746782589
|
0.00001
|
|
NM_014363.6(SACS):c.1579T>C (p.Ser527Pro)
|
rs771914413
|
0.00001
|
|
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)
|
rs757939935
|
0.00001
|
|
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
|
rs202110208
|
0.00001
|
|
NM_014727.3(KMT2B):c.2323G>C (p.Ala775Pro)
|
rs1969217856
|
0.00001
|
|
NM_014727.3(KMT2B):c.4199G>A (p.Arg1400His)
|
rs371324331
|
0.00001
|
|
NM_014727.3(KMT2B):c.542G>A (p.Arg181Gln)
|
rs368286257
|
0.00001
|
|
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met)
|
rs780890592
|
0.00001
|
|
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp)
|
rs767506087
|
0.00001
|
|
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)
|
rs1490526407
|
0.00001
|
|
NM_014795.4(ZEB2):c.26G>A (p.Gly9Asp)
|
rs1242134764
|
0.00001
|
|
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr)
|
rs730881187
|
0.00001
|
|
NM_014915.3(ANKRD26):c.2151G>A (p.Met717Ile)
|
rs188446159
|
0.00001
|
|
NM_015178.3(RHOBTB2):c.746C>T (p.Pro249Leu)
|
rs745547797
|
0.00001
|
|
NM_015192.4(PLCB1):c.288G>T (p.Gly96=)
|
rs200521017
|
0.00001
|
|
NM_015338.6(ASXL1):c.1957G>A (p.Gly653Arg)
|
rs537734228
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1170G>A (p.Leu390=)
|
rs532292359
|
0.00001
|
|
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys)
|
rs376233499
|
0.00001
|
|
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)
|
rs1036089094
|
0.00001
|
|
NM_015559.3(SETBP1):c.2148C>T (p.Ser716=)
|
rs762804357
|
0.00001
|
|
NM_015559.3(SETBP1):c.2915G>A (p.Arg972Gln)
|
rs759901142
|
0.00001
|
|
NM_015559.3(SETBP1):c.4034C>G (p.Thr1345Arg)
|
rs148195272
|
0.00001
|
|
NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val)
|
rs1486460574
|
0.00001
|
|
NM_015570.4(AUTS2):c.3298C>G (p.Pro1100Ala)
|
rs763284520
|
0.00001
|
|
NM_015690.5(STK36):c.3643G>A (p.Ala1215Thr)
|
rs537610210
|
0.00001
|
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys)
|
rs779061035
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)
|
rs1037236860
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)
|
rs373770404
|
0.00001
|
|
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)
|
rs757497167
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)
|
rs763886355
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)
|
rs544117297
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)
|
rs1260932753
|
0.00001
|
|
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)
|
rs571831870
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)
|
rs767886377
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser)
|
rs367586502
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met)
|
rs377343669
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)
|
rs750169914
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys)
|
rs754634957
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)
|
rs780500109
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)
|
rs759828439
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)
|
rs369915496
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)
|
rs762492041
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu)
|
rs779337715
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)
|
rs746237272
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)
|
rs773571672
|
0.00001
|
|
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)
|
rs760005580
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)
|
rs1371022203
|
0.00001
|
|
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)
|
rs1401319182
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)
|
rs761562076
|
0.00001
|
|
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)
|
rs553542677
|
0.00001
|
|
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met)
|
rs537766290
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)
|
rs769693988
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)
|
rs746658493
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)
|
rs758410389
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)
|
rs761156723
|
0.00001
|
|
NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr)
|
rs984170802
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
|
NM_017780.4(CHD7):c.323C>A (p.Pro108His)
|
rs369818702
|
0.00001
|
|
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn)
|
rs748590759
|
0.00001
|
|
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser)
|
rs777040556
|
0.00001
|
|
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser)
|
rs767885129
|
0.00001
|
|
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser)
|
rs587783224
|
0.00001
|
|
NM_019842.4(KCNQ5):c.1304T>A (p.Ile435Asn)
|
rs761319100
|
0.00001
|
|
NM_019842.4(KCNQ5):c.89G>A (p.Gly30Glu)
|
rs756542782
|
0.00001
|
|
NM_020297.4(ABCC9):c.2081G>A (p.Arg694Gln)
|
rs267603424
|
0.00001
|
|
NM_020549.5(CHAT):c.916G>A (p.Val306Ile)
|
rs551219437
|
0.00001
|
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
|
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)
|
rs1003057639
|
0.00001
|
|
NM_020987.5(ANK3):c.8174G>A (p.Gly2725Asp)
|
rs993289778
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu)
|
rs1481524583
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr)
|
rs902030420
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1684C>G (p.Pro562Ala)
|
rs1474486162
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1765G>A (p.Ala589Thr)
|
rs769240762
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)
|
rs544916201
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1913G>T (p.Gly638Val)
|
rs771036445
|
0.00001
|
|
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His)
|
rs764071122
|
0.00001
|
|
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg)
|
rs772258959
|
0.00001
|
|
NM_021098.3(CACNA1H):c.3563C>T (p.Pro1188Leu)
|
rs894257173
|
0.00001
|
|
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu)
|
rs756181994
|
0.00001
|
|
NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val)
|
rs59950911
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile)
|
rs750732485
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6928C>T (p.Pro2310Ser)
|
rs778466215
|
0.00001
|
|
NM_021098.3(CACNA1H):c.7058T>A (p.Val2353Glu)
|
rs990512900
|
0.00001
|
|
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln)
|
rs749305814
|
0.00001
|
|
NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile)
|
rs997846742
|
0.00001
|
|
NM_021831.6(AGBL5):c.909-3C>T
|
rs772125178
|
0.00001
|
|
NM_021957.4(GYS2):c.942-7del
|
rs537907545
|
0.00001
|
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
|
NM_022367.4(SEMA4A):c.492C>T (p.Ile164=)
|
rs562037528
|
0.00001
|
|
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)
|
rs554680915
|
0.00001
|
|
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg)
|
rs921266576
|
0.00001
|
|
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg)
|
rs984879135
|
0.00001
|
|
NM_022489.4(INF2):c.839A>G (p.His280Arg)
|
rs759115381
|
0.00001
|
|
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)
|
rs562700595
|
0.00001
|
|
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp)
|
rs552179138
|
0.00001
|
|
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu)
|
rs776398212
|
0.00001
|
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
|
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu)
|
rs199743500
|
0.00001
|
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
|
NM_024675.4(PALB2):c.734C>T (p.Ala245Val)
|
rs571063157
|
0.00001
|
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
|
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)
|
rs771355732
|
0.00001
|
|
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg)
|
rs757416132
|
0.00001
|
|
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val)
|
rs375391530
|
0.00001
|
|
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile)
|
rs761554206
|
0.00001
|
|
NM_025099.6(CTC1):c.1548G>A (p.Pro516=)
|
rs781000475
|
0.00001
|
|
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp)
|
rs549244691
|
0.00001
|
|
NM_030665.4(RAI1):c.2329G>C (p.Asp777His)
|
rs959911033
|
0.00001
|
|
NM_030665.4(RAI1):c.2692A>G (p.Ile898Val)
|
rs200306885
|
0.00001
|
|
NM_030665.4(RAI1):c.2709G>C (p.Glu903Asp)
|
rs752676204
|
0.00001
|
|
NM_030665.4(RAI1):c.2885C>T (p.Pro962Leu)
|
rs1198795075
|
0.00001
|
|
NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu)
|
rs2032247780
|
0.00001
|
|
NM_030665.4(RAI1):c.3913G>A (p.Ala1305Thr)
|
rs794727521
|
0.00001
|
|
NM_030665.4(RAI1):c.5141A>G (p.Lys1714Arg)
|
rs369948107
|
0.00001
|
|
NM_030665.4(RAI1):c.530C>T (p.Pro177Leu)
|
rs753632651
|
0.00001
|
|
NM_030665.4(RAI1):c.5432C>G (p.Ala1811Gly)
|
rs1484029703
|
0.00001
|
|
NM_030928.4(CDT1):c.1632G>C (p.Glu544Asp)
|
rs556429460
|
0.00001
|
|
NM_031407.7(HUWE1):c.10035+6G>A
|
rs782009073
|
0.00001
|
|
NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu)
|
rs1430366832
|
0.00001
|
|
NM_031407.7(HUWE1):c.3863G>A (p.Arg1288Gln)
|
rs782737005
|
0.00001
|
|
NM_031407.7(HUWE1):c.9802C>T (p.Pro3268Ser)
|
rs1045935059
|
0.00001
|
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
|
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)
|
rs1060501776
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr)
|
rs560274484
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser)
|
rs373807911
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7382C>T (p.Pro2461Leu)
|
rs560465803
|
0.00001
|
|
NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala)
|
rs765530046
|
0.00001
|
|
NM_032409.3(PINK1):c.1481C>T (p.Ala494Val)
|
rs542258150
|
0.00001
|
|
NM_032578.4(MYPN):c.2802T>A (p.His934Gln)
|
rs752426180
|
0.00001
|
|
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu)
|
rs552561721
|
0.00001
|
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00001
|
|
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=)
|
rs527418139
|
0.00001
|
|
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)
|
rs752134753
|
0.00001
|
|
NM_033310.3(KCNK4):c.992C>T (p.Pro331Leu)
|
rs768144352
|
0.00001
|
|
NM_052813.5(CARD9):c.808-8C>T
|
rs542391727
|
0.00001
|
|
NM_053025.4(MYLK):c.3705A>C (p.Ala1235=)
|
rs563569935
|
0.00001
|
|
NM_053054.4(CATSPER1):c.1950C>T (p.Ile650=)
|
rs531856996
|
0.00001
|
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
|
NM_080680.3(COL11A2):c.1097C>T (p.Ala366Val)
|
rs534335166
|
0.00001
|
|
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln)
|
rs528989984
|
0.00001
|
|
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln)
|
rs528982644
|
0.00001
|
|
NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser)
|
rs754703121
|
0.00001
|
|
NM_080680.3(COL11A2):c.3545C>A (p.Pro1182Gln)
|
rs1411737210
|
0.00001
|
|
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys)
|
rs727504543
|
0.00001
|
|
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His)
|
rs138667578
|
0.00001
|
|
NM_130837.3(OPA1):c.464C>T (p.Ala155Val)
|
rs751318725
|
0.00001
|
|
NM_130839.5(UBE3A):c.176G>A (p.Arg59His)
|
rs587784511
|
0.00001
|
|
NM_133379.5(TTN):c.14055A>G (p.Arg4685=)
|
rs1466986172
|
0.00001
|
|
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)
|
rs571024836
|
0.00001
|
|
NM_138576.4(BCL11B):c.1744G>A (p.Gly582Ser)
|
rs1440888810
|
0.00001
|
|
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr)
|
rs750822014
|
0.00001
|
|
NM_144670.6(A2ML1):c.3264+5G>A
|
rs200006435
|
0.00001
|
|
NM_144670.6(A2ML1):c.483+6C>T
|
rs754169968
|
0.00001
|
|
NM_144687.4(NLRP12):c.19A>G (p.Arg7Gly)
|
rs773831845
|
0.00001
|
|
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp)
|
rs758607519
|
0.00001
|
|
NM_152424.4(AMER1):c.1034C>T (p.Ala345Val)
|
rs763438860
|
0.00001
|
|
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln)
|
rs370701337
|
0.00001
|
|
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys)
|
rs397517880
|
0.00001
|
|
NM_170707.4(LMNA):c.870G>A (p.Glu290=)
|
rs747275587
|
0.00001
|
|
NM_172362.3(KCNH1):c.652A>G (p.Thr218Ala)
|
rs200444441
|
0.00001
|
|
NM_174936.4(PCSK9):c.1560C>T (p.Val520=)
|
rs542863545
|
0.00001
|
|
NM_175914.5(HNF4A):c.582+4A>G
|
rs376287515
|
0.00001
|
|
NM_177438.3(DICER1):c.1631G>A (p.Arg544Gln)
|
rs143533680
|
0.00001
|
|
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val)
|
rs886058521
|
0.00001
|
|
NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr)
|
rs761844853
|
0.00001
|
|
NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln)
|
rs372597797
|
0.00001
|
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
|
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg)
|
rs566953005
|
0.00001
|
|
NM_201384.3(PLEC):c.10359G>A (p.Lys3453=)
|
rs782140099
|
0.00001
|
|
NM_201525.4(ADGRG1):c.64+15G>T
|
rs200303272
|
0.00001
|
|
NM_206933.4(USH2A):c.1047T>C (p.Asp349=)
|
rs775053681
|
0.00001
|
|
NM_206933.4(USH2A):c.14493A>T (p.Gly4831=)
|
rs113716139
|
0.00001
|
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
|
GRCh38/hg38 11q22.1(chr11:97849768-98439058)x1
|
|
|
|
GRCh38/hg38 12q24.33(chr12:129325762-129943507)x3
|
|
|
|
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1
|
|
|
|
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3
|
|
|
|
GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1
|
|
|
|
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
|
|
|
|
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3
|
|
|
|
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3
|
|
|
|
GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3
|
|
|
|
GRCh38/hg38 15q13.3(chr15:31806467-32134668)x3
|
|
|
|
GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3
|
|
|
|
GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1
|
|
|
|
GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3
|
|
|
|
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3
|
|
|
|
GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3
|
|
|
|
GRCh38/hg38 2p11.2(chr2:87148954-87655401)x3
|
|
|
|
GRCh38/hg38 2p11.2(chr2:87148954-87705899)x3
|
|
|
|
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3
|
|
|
|
GRCh38/hg38 2p25.3(chr2:84669-206271)x1
|
|
|
|
GRCh38/hg38 2q13(chr2:110104900-110201550)x1
|
|
|
|
GRCh38/hg38 4q35.2(chr4:189111218-189975519)x1
|
|
|
|
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
|
|
|
|
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3
|
|
|
|
GRCh38/hg38 8q11.1(chr8:46031334-46662449)x1
|
|
|
|
GRCh38/hg38 8q11.1(chr8:46031334-46792065)x1
|
|
|
|
GRCh38/hg38 9p24.3(chr9:204193-295405)x3
|
|
|
|
GRCh38/hg38 9p24.3(chr9:204193-381489)x3
|
|
|
|
GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2
|
|
|
|
Multiple alleles
|
|
|
|
NC_000003.12:g.36993441C>G
|
rs587778886
|
|
|
NC_000004.12:g.1395122G>C
|
|
|
|
NC_000011.10:g.1219991G>T
|
rs35705950
|
|
|
NC_000011.10:g.5227113G>C
|
rs397515291
|
|
|
NC_000019.10:g.11089461G>A
|
|
|
|
NC_000023.11:g.101841897G>A
|
|
|
|
NC_012920.1(MT-CO3):m.9804G>A
|
rs200613617
|
|
|
NC_012920.1(MT-TQ):m.4336T>C
|
rs41456348
|
|
|
NC_012920.1(MT-TS1):m.7468C>T
|
rs111033173
|
|
|
NC_012920.1(MT-TS2):m.12236G>A
|
rs28359170
|
|
|
NM_000017.4(ACADS):c.516C>T (p.Ala172=)
|
rs531683812
|
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
|
NM_000018.4(ACADVL):c.753-27C>T
|
rs374911841
|
|
|
NM_000021.4(PSEN1):c.*1867ACAG[1]
|
rs563773430
|
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
|
NM_000027.4(AGA):c.806+13_806+16del
|
rs369977700
|
|
|
NM_000030.3(AGXT):c.839C>T (p.Ala280Val)
|
rs73106685
|
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
|
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
|
rs146360505
|
|
|
NM_000036.3(AMPD1):c.382-6del
|
rs727503806
|
|
|
NM_000036.3(AMPD1):c.382-6dup
|
rs727503806
|
|
|
NM_000036.3(AMPD1):c.5del (p.Pro2fs)
|
rs557878856
|
|
|
NM_000037.4(ANK1):c.3115+9G>A
|
rs150850103
|
|
|
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)
|
rs149859024
|
|
|
NM_000038.6(APC):c.*2AG[2]
|
rs758692443
|
|
|
NM_000038.6(APC):c.2001A>G (p.Gln667=)
|
rs1580617421
|
|
|
NM_000038.6(APC):c.2427T>C (p.Asn809=)
|
rs1035293450
|
|
|
NM_000038.6(APC):c.2511A>C (p.Ser837=)
|
rs79909810
|
|
|
NM_000038.6(APC):c.2630G>C (p.Gly877Ala)
|
rs558732083
|
|
|
NM_000038.6(APC):c.295C>A (p.Arg99=)
|
rs139196838
|
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
|
NM_000038.6(APC):c.3819A>G (p.Arg1273=)
|
rs1765530477
|
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
|
NM_000038.6(APC):c.4815G>A (p.Val1605=)
|
rs1060503313
|
|
|
NM_000038.6(APC):c.4863A>G (p.Gln1621=)
|
rs1561595977
|
|
|
NM_000038.6(APC):c.5078A>G (p.Glu1693Gly)
|
rs533667536
|
|
|
NM_000038.6(APC):c.5162G>A (p.Gly1721Asp)
|
rs876660114
|
|
|
NM_000038.6(APC):c.5486A>G (p.Asn1829Ser)
|
rs767612847
|
|
|
NM_000038.6(APC):c.5496T>C (p.Asp1832=)
|
rs1561600562
|
|
|
NM_000038.6(APC):c.5572C>A (p.Arg1858=)
|
rs1270783041
|
|
|
NM_000038.6(APC):c.5723A>G (p.Asn1908Ser)
|
rs1064795748
|
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
|
NM_000038.6(APC):c.6558A>G (p.Lys2186=)
|
rs1766244713
|
|
|
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)
|
rs544549596
|
|
|
NM_000038.6(APC):c.7086A>T (p.Gly2362=)
|
rs780439042
|
|
|
NM_000038.6(APC):c.715G>C (p.Ala239Pro)
|
rs777760565
|
|
|
NM_000038.6(APC):c.719C>G (p.Thr240Arg)
|
rs751648064
|
|
|
NM_000038.6(APC):c.730-3C>T
|
rs786203125
|
|
|
NM_000038.6(APC):c.7543A>G (p.Ile2515Val)
|
rs554356011
|
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
|
NM_000038.6(APC):c.8148G>A (p.Val2716=)
|
rs1158207177
|
|
|
NM_000043.6(FAS):c.444-5del
|
rs751798922
|
|
|
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
|
|
|
|
NM_000044.6(AR):c.2017A>G (p.Ile673Val)
|
|
|
|
NM_000045.4(ARG1):c.75A>G (p.Glu25=)
|
rs755973004
|
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
|
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)
|
rs2083595502
|
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.8011-6T>G
|
rs762092284
|
|
|
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
|
|
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
|
NM_000057.4(BLM):c.2407-7del
|
rs769184675
|
|
|
NM_000057.4(BLM):c.2407-9del
|
rs747699258
|
|
|
NM_000059.4(BRCA2):c.-39-12_-39-10del
|
rs276174798
|
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
|
NM_000059.4(BRCA2):c.10176del (p.Glu3393fs)
|
rs80359258
|
|
|
NM_000059.4(BRCA2):c.1022G>T (p.Cys341Phe)
|
rs80358403
|
|
|
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)
|
rs80358410
|
|
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
rs397507263
|
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
|
NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser)
|
rs2072285447
|
|
|
NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile)
|
rs80358424
|
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
|
NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln)
|
rs276174809
|
|
|
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)
|
rs11571587
|
|
|
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)
|
rs587782713
|
|
|
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val)
|
rs876661280
|
|
|
NM_000059.4(BRCA2):c.1909+22del
|
rs276174816
|
|
|
NM_000059.4(BRCA2):c.1909+22dup
|
rs276174816
|
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
|
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)
|
rs587781915
|
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
|
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)
|
rs786203080
|
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
|
NM_000059.4(BRCA2):c.516+17G>T
|
rs765435155
|
|
|
NM_000059.4(BRCA2):c.5733T>G (p.Asp1911Glu)
|
rs367823201
|
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
|
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly)
|
rs398122550
|
|
|
NM_000059.4(BRCA2):c.627C>A (p.Leu209=)
|
rs28897704
|
|
|
NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile)
|
rs80358869
|
|
|
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=)
|
rs206076
|
|
|
NM_000059.4(BRCA2):c.68-7del
|
rs276174878
|
|
|
NM_000059.4(BRCA2):c.682-12_682-11del
|
rs276174879
|
|
|
NM_000059.4(BRCA2):c.6841+80_6841+83del
|
rs11571661
|
|
|
NM_000059.4(BRCA2):c.6842-14A>T
|
rs81002821
|
|
|
NM_000059.4(BRCA2):c.6937+13T>G
|
rs587780868
|
|
|
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=)
|
rs276174888
|
|
|
NM_000059.4(BRCA2):c.7415A>C (p.Lys2472Thr)
|
rs80358963
|
|
|
NM_000059.4(BRCA2):c.7435+10G>A
|
rs81002793
|
|
|
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)
|
rs80358976
|
|
|
NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro)
|
rs80358982
|
|
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
rs431825362
|
|
|
NM_000059.4(BRCA2):c.8182G>C (p.Val2728Leu)
|
rs28897749
|
|
|
NM_000059.4(BRCA2):c.8487+47C>T
|
rs11571744
|
|
|
NM_000059.4(BRCA2):c.8488-5T>C
|
rs533806629
|
|
|
NM_000059.4(BRCA2):c.8527A>C (p.Asn2843His)
|
rs876660403
|
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
|
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val)
|
rs397508016
|
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
|
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)
|
rs80359174
|
|
|
NM_000059.4(BRCA2):c.9257-10del
|
rs276174919
|
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
|
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu)
|
rs397507432
|
|
|
NM_000059.4(BRCA2):c.9648+106del
|
rs11571824
|
|
|
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs)
|
rs431825381
|
|
|
NM_000061.3(BTK):c.520+15C>T
|
rs782697907
|
|
|
NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)
|
|
|
|
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met)
|
rs750807406
|
|
|
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln)
|
rs113812219
|
|
|
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)
|
|
|
|
NM_000069.3(CACNA1S):c.2350C>G (p.Pro784Ala)
|
|
|
|
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val)
|
rs553593355
|
|
|
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr)
|
rs562504992
|
|
|
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)
|
rs774416016
|
|
|
NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg)
|
|
|
|
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His)
|
rs774256022
|
|
|
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)
|
rs35534614
|
|
|
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)
|
rs372266620
|
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
|
NM_000079.4(CHRNA1):c.779-12del
|
rs67309103
|
|
|
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=)
|
rs570378547
|
|
|
NM_000081.4(LYST):c.11268-17dup
|
rs36014994
|
|
|
NM_000081.4(LYST):c.3940-17dup
|
|
|
|
NM_000081.4(LYST):c.5461-3dup
|
rs557545474
|
|
|
NM_000090.4(COL3A1):c.1348-4del
|
rs758567906
|
|
|
NM_000090.4(COL3A1):c.1348-4dup
|
rs758567906
|
|
|
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
|
NM_000091.5(COL4A3):c.3713C>G (p.Thr1238Arg)
|
|
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
|
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
|
|
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
|
NM_000092.5(COL4A4):c.3634A>G (p.Arg1212Gly)
|
|
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
|
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)
|
rs370547479
|
|
|
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
|
rs900216804
|
|
|
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His)
|
rs748471791
|
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
|
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)
|
rs61749896
|
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
|
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del)
|
rs575766548
|
|
|
NM_000130.5(F5):c.5419+11C>G
|
rs6008
|
|
|
NM_000135.2(FANCA):c.-138_-126dup
|
rs11275235
|
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
|
NM_000136.3(FANCC):c.*42G>A
|
rs7029888
|
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
|
NM_000137.4(FAH):c.455+9T>C
|
rs531129429
|
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
|
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)
|
rs764959117
|
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1237-50TC[22]
|
rs144131869
|
|
|
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)
|
rs2070956
|
|
|
NM_000153.4(GALC):c.1162-4dup
|
rs11300320
|
|
|
NM_000153.4(GALC):c.909-3del
|
rs1212915595
|
|
|
NM_000163.5(GHR):c.484G>A (p.Val162Ile)
|
rs6413484
|
|
|
NM_000169.3(GLA):c.490G>T (p.Val164Leu)
|
rs869312144
|
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
|
NM_000179.3(MSH6):c.1037C>G (p.Ser346Cys)
|
rs567785169
|
|
|
NM_000179.3(MSH6):c.106G>T (p.Ala36Ser)
|
rs759589301
|
|
|
NM_000179.3(MSH6):c.1074C>G (p.Asp358Glu)
|
rs760311819
|
|
|
NM_000179.3(MSH6):c.116G>C (p.Gly39Ala)
|
rs1042821
|
|
|
NM_000179.3(MSH6):c.1170T>A (p.Asp390Glu)
|
rs55882234
|
|
|
NM_000179.3(MSH6):c.146C>T (p.Ala49Val)
|
rs775498550
|
|
|
NM_000179.3(MSH6):c.1637A>G (p.Glu546Gly)
|
rs373554374
|
|
|
NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)
|
rs730881793
|
|
|
NM_000179.3(MSH6):c.2062G>A (p.Val688Ile)
|
rs1201347192
|
|
|
NM_000179.3(MSH6):c.249T>G (p.Ala83=)
|
rs876658308
|
|
|
NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln)
|
rs761622304
|
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3257C>A (p.Pro1086His)
|
rs780345806
|
|
|
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.3646+35_3646+38del
|
rs1805181
|
|
|
NM_000179.3(MSH6):c.3843G>T (p.Glu1281Asp)
|
rs864622384
|
|
|
NM_000179.3(MSH6):c.3977T>C (p.Met1326Thr)
|
rs757089977
|
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
rs59056100
|
|
|
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs)
|
rs1553334056
|
|
|
NM_000179.3(MSH6):c.43C>T (p.Pro15Ser)
|
rs776745497
|
|
|
NM_000179.3(MSH6):c.743G>C (p.Arg248Pro)
|
rs764870249
|
|
|
NM_000179.3(MSH6):c.753A>G (p.Ile251Met)
|
rs587779321
|
|
|
NM_000179.3(MSH6):c.806C>T (p.Thr269Ile)
|
rs587779322
|
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
|
NM_000179.3(MSH6):c.968C>A (p.Thr323Asn)
|
rs777890307
|
|
|
NM_000179.3(MSH6):c.988T>C (p.Ser330Pro)
|
rs770408023
|
|
|
NM_000181.4(GUSB):c.1790-18dup
|
rs750022485
|
|
|
NM_000186.4(CFH):c.2783-3del
|
rs748791414
|
|
|
NM_000186.4(CFH):c.2956+13G>A
|
rs572034879
|
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
|
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)
|
rs200644359
|
|
|
NM_000202.8(IDS):c.419-16dup
|
rs781852261
|
|
|
NM_000202.8(IDS):c.419-6del
|
rs781852261
|
|
|
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)
|
rs370394527
|
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
|
NM_000207.3(INS):c.-17-70G>A
|
rs1554920985
|
|
|
NM_000207.3(INS):c.-18+3C>G
|
rs886048112
|
|
|
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln)
|
rs52826008
|
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
|
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln)
|
rs13306487
|
|
|
NM_000212.3(ITGB3):c.1914-7C>T
|
|
|
|
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr)
|
rs147480547
|
|
|
NM_000214.3(JAG1):c.-386dup
|
rs886056519
|
|
|
NM_000215.4(JAK3):c.*1931del
|
rs147498283
|
|
|
NM_000218.3(KCNQ1):c.1092C>T (p.Phe364=)
|
rs2133754700
|
|
|
NM_000218.3(KCNQ1):c.1129-8G>A
|
rs200612600
|
|
|
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln)
|
rs12720449
|
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
|
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)
|
rs11601907
|
|
|
NM_000222.3(KIT):c.252G>A (p.Thr84=)
|
rs56411694
|
|
|
NM_000228.3(LAMB3):c.781C>G (p.Pro261Ala)
|
|
|
|
NM_000231.3(SGCG):c.579-21_579-20del
|
rs769893030
|
|
|
NM_000237.3(LPL):c.290C>T (p.Ala97Val)
|
rs201946950
|
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
|
NM_000238.4(KCNH2):c.2692+13A>G
|
rs761584506
|
|
|
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)
|
rs36210421
|
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
|
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
rs11466024
|
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
|
NM_000245.4(MET):c.2434C>G (p.Gln812Glu)
|
rs398123568
|
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
|
NM_000246.4(CIITA):c.2816+14C>T
|
rs191941806
|
|
|
NM_000246.4(CIITA):c.3062+14G>A
|
rs370557976
|
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTA
|
rs535965616
|
|
|
NM_000249.4(MLH1):c.1039-9_1039-8dup
|
rs57509953
|
|
|
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
|
NM_000249.4(MLH1):c.1559-11T>C
|
rs730881750
|
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
|
NM_000249.4(MLH1):c.479C>T (p.Ala160Val)
|
rs63749924
|
|
|
NM_000249.4(MLH1):c.677+26dup
|
rs755619350
|
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
|
NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu)
|
rs63751412
|
|
|
NM_000251.3(MSH2):c.1276+23del
|
rs587779081
|
|
|
NM_000251.3(MSH2):c.1322C>T (p.Thr441Ile)
|
rs1553361210
|
|
|
NM_000251.3(MSH2):c.1387-14_1387-11del
|
rs370436680
|
|
|
NM_000251.3(MSH2):c.1451T>C (p.Ile484Thr)
|
|
|
|
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)
|
rs876658187
|
|
|
NM_000251.3(MSH2):c.1557T>G (p.Phe519Leu)
|
rs1573553312
|
|
|
NM_000251.3(MSH2):c.16A>G (p.Lys6Glu)
|
rs777351049
|
|
|
NM_000251.3(MSH2):c.1798G>T (p.Ala600Ser)
|
rs587778526
|
|
|
NM_000251.3(MSH2):c.1837A>C (p.Asn613His)
|
rs200147804
|
|
|
NM_000251.3(MSH2):c.183G>C (p.Gln61His)
|
rs751082926
|
|
|
NM_000251.3(MSH2):c.1868C>T (p.Ala623Val)
|
rs781698416
|
|
|
NM_000251.3(MSH2):c.190A>G (p.Ile64Val)
|
rs1166747167
|
|
|
NM_000251.3(MSH2):c.1939G>C (p.Glu647Gln)
|
rs63750078
|
|
|
NM_000251.3(MSH2):c.212-4del
|
rs746333570
|
|
|
NM_000251.3(MSH2):c.2139G>T (p.Gly713=)
|
rs63750003
|
|
|
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)
|
rs587782891
|
|
|
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)
|
rs41295296
|
|
|
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)
|
rs373393954
|
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
|
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)
|
rs587779150
|
|
|
NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg)
|
rs754533481
|
|
|
NM_000251.3(MSH2):c.2575G>A (p.Glu859Lys)
|
rs63749830
|
|
|
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)
|
rs1060502037
|
|
|
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)
|
rs34319539
|
|
|
NM_000251.3(MSH2):c.353A>G (p.Tyr118Cys)
|
rs1291162195
|
|
|
NM_000251.3(MSH2):c.391T>G (p.Phe131Val)
|
rs755423698
|
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.40G>A (p.Ala14Thr)
|
rs876658277
|
|
|
NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)
|
rs774132884
|
|
|
NM_000251.3(MSH2):c.460G>A (p.Ala154Thr)
|
rs759712763
|
|
|
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly)
|
rs63750327
|
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
|
NM_000251.3(MSH2):c.942+26_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.956A>G (p.Asp319Gly)
|
rs786204185
|
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
|
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)
|
rs63750732
|
|
|
NM_000254.3(MTR):c.*16del
|
rs67705775
|
|
|
NM_000256.3(MYBPC3):c.1224-61_1224-53dup
|
rs1565628380
|
|
|
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=)
|
rs727503196
|
|
|
NM_000256.3(MYBPC3):c.2148+6_2148+9del
|
rs397515949
|
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
|
NM_000257.4(MYH7):c.4354-7C>T
|
rs370093487
|
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
|
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)
|
rs748080151
|
|
|
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)
|
rs186173534
|
|
|
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu)
|
rs775408408
|
|
|
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr)
|
rs781101191
|
|
|
NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn)
|
rs1840282022
|
|
|
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)
|
rs149691476
|
|
|
NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala)
|
rs774712511
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC
|
rs199713263
|
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
|
NM_000271.5(NPC1):c.3755-16TC[5]
|
rs760529810
|
|
|
NM_000274.4(OAT):c.521-15_521-12del
|
rs376636397
|
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
|
NM_000283.4(PDE6B):c.*153dup
|
rs374413250
|
|
|
NM_000287.4(PEX6):c.*438TAAA[1]
|
rs144286892
|
|
|
NM_000288.4(PEX7):c.747+20_747+24del
|
rs199624608
|
|
|
NM_000291.4(PGK1):c.146T>A (p.Phe49Tyr)
|
|
|
|
NM_000302.4(PLOD1):c.577A>C (p.Arg193=)
|
rs569590633
|
|
|
NM_000303.3(PMM2):c.93C>T (p.Phe31=)
|
rs61730638
|
|
|
NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)
|
|
|
|
NM_000308.4(CTSA):c.195-7dup
|
rs780400265
|
|
|
NM_000314.6(PTEN):c.-975G>A
|
rs587780001
|
|
|
NM_000314.6(PTEN):c.-975G>C
|
rs587780001
|
|
|
NM_000314.8(PTEN):c.*10dup
|
rs756681683
|
|
|
NM_000314.8(PTEN):c.-500GGC[7]
|
rs1237307954
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
|
NM_000321.3(RB1):c.1410T>G (p.Ile470Met)
|
rs578226820
|
|
|
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly)
|
rs779045727
|
|
|
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)
|
rs367578442
|
|
|
NM_000321.3(RB1):c.397A>C (p.Asn133His)
|
rs3092900
|
|
|
NM_000322.5(PRPH2):c.*483_*484dup
|
rs55851577
|
|
|
NM_000325.6(PITX2):c.*340A>G
|
rs551209662
|
|
|
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)
|
rs201628949
|
|
|
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg)
|
rs763493738
|
|
|
NM_000335.5(SCN5A):c.4053C>T (p.Gly1351=)
|
rs587781165
|
|
|
NM_000335.5(SCN5A):c.4540-10C>A
|
rs750747122
|
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
|
NM_000337.6(SGCD):c.*4340_*4341dup
|
rs556887176
|
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[4]
|
rs727504998
|
|
|
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)
|
rs538778224
|
|
|
NM_000345.4(SNCA):c.*575ATTTT[1]
|
rs756360541
|
|
|
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup)
|
rs776337541
|
|
|
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
|
|
|
|
NM_000350.3(ABCA4):c.1356+6_1356+7insC
|
rs886046568
|
|
|
NM_000350.3(ABCA4):c.3051-15G>T
|
rs200223777
|
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
|
NM_000350.3(ABCA4):c.4668-15C>T
|
rs61754054
|
|
|
NM_000350.3(ABCA4):c.468C>T (p.Ile156=)
|
rs148091207
|
|
|
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)
|
rs374811709
|
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
|
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)
|
rs61751379
|
|
|
NM_000352.6(ABCC8):c.580-7C>A
|
rs771196330
|
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
|
NM_000355.4(TCN2):c.810G>A (p.Ala270=)
|
rs61748898
|
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
|
NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg)
|
rs878853955
|
|
|
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile)
|
rs796053447
|
|
|
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser)
|
rs1429666367
|
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)
|
rs533565295
|
|
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
|
|
NM_000368.5(TSC1):c.54G>C (p.Met18Ile)
|
rs940292214
|
|
|
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu)
|
rs1322586198
|
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
|
NM_000372.5(TYR):c.1037-10dup
|
rs747032303
|
|
|
NM_000374.5(UROD):c.*70G>A
|
rs41269105
|
|
|
NM_000377.3(WAS):c.638G>A (p.Arg213His)
|
|
|
|
NM_000377.3(WAS):c.765G>C (p.Gln255His)
|
|
|
|
NM_000381.4(MID1):c.1767T>C (p.Asn589=)
|
rs750022332
|
|
|
NM_000381.4(MID1):c.778G>A (p.Ala260Thr)
|
|
|
|
NM_000384.3(APOB):c.-115C>G
|
rs1800480
|
|
|
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
|
|
|
|
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
|
|
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
|
|
|
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
|
|
|
|
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
|
|
|
|
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
|
|
|
|
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
|
|
|
|
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
|
|
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
|
|
|
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
|
|
|
|
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
|
|
|
|
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
|
|
|
|
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
|
|
|
|
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
|
|
|
|
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
|
|
|
|
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
|
|
|
|
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
|
|
|
|
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
|
|
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
|
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
|
|
|
|
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
|
|
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
|
|
|
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
|
|
|
|
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
|
|
|
|
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
|
|
|
|
NM_000384.3(APOB):c.4796G>A (p.Arg1599His)
|
rs746414462
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
|
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)
|
rs541497967
|
|
|
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
|
|
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
|
NM_000384.3(APOB):c.7619G>T (p.Gly2540Val)
|
rs571626569
|
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
|
|
|
NM_000384.3(APOB):c.9867C>A (p.Asp3289Glu)
|
rs72654404
|
|
|
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
|
|
|
|
NM_000391.4(TPP1):c.65G>T (p.Ser22Ile)
|
rs202025584
|
|
|
NM_000391.4(TPP1):c.687+20C>T
|
rs569432039
|
|
|
NM_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
|
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=)
|
rs564908429
|
|
|
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs)
|
rs568607741
|
|
|
NM_000398.7(CYB5R3):c.334-15G>A
|
|
|
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272
|
|
|
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup)
|
rs753747037
|
|
|
NM_000406.3(GNRHR):c.523-15del
|
rs569763619
|
|
|
NM_000419.5(ITGA2B):c.891+12del
|
rs373578804
|
|
|
NM_000421.5(KRT10):c.1457_1458insAAGCT (p.His487fs)
|
rs762667965
|
|
|
NM_000426.4(LAMA2):c.4312-19_4312-17del
|
rs398123374
|
|
|
NM_000427.3(LORICRIN):c.763G>T (p.Gly255Cys)
|
|
|
|
NM_000433.4(NCF2):c.918G>A (p.Gln306=)
|
rs535561432
|
|
|
NM_000436.4(OXCT1):c.78+10dup
|
rs368390833
|
|
|
NM_000436.4(OXCT1):c.79-11del
|
rs748715820
|
|
|
NM_000436.4(OXCT1):c.79-22dup
|
rs748715820
|
|
|
NM_000451.4(SHOX):c.144G>A (p.Glu48=)
|
rs750638027
|
|
|
NM_000451.4(SHOX):c.279G>T (p.Gly93=)
|
rs193922465
|
|
|
NM_000455.5(STK11):c.-107dup
|
rs927999961
|
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
|
|
NM_000455.5(STK11):c.1068C>G (p.Ile356Met)
|
rs187744790
|
|
|
NM_000455.5(STK11):c.120C>T (p.Arg40=)
|
rs878853984
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
|
NM_000455.5(STK11):c.734+19dup
|
rs730881962
|
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
|
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=)
|
rs761684626
|
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
|
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val)
|
rs200903749
|
|
|
NM_000466.3(PEX1):c.1077G>A (p.Lys359=)
|
rs138905930
|
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
|
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)
|
rs754552080
|
|
|
NM_000481.4(AMT):c.471+12_471+13del
|
rs370772505
|
|
|
NM_000481.4(AMT):c.513C>T (p.Gly171=)
|
rs555045517
|
|
|
NM_000487.6(ARSA):c.937C>A (p.Arg313=)
|
rs551472773
|
|
|
NM_000488.4(SERPINC1):c.409-12del
|
rs201656611
|
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
|
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del)
|
rs782630348
|
|
|
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)
|
rs782391479
|
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
|
NM_000492.4(CFTR):c.1117-26_1117-25del
|
rs397508159
|
|
|
NM_000492.4(CFTR):c.1210-13_1210-11del
|
rs2115902247
|
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
|
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
|
|
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
|
NM_000492.4(CFTR):c.744-33GATT[5]
|
rs1805171
|
|
|
NM_000493.4(COL10A1):c.1300_1322del (p.Gly434fs)
|
rs753599581
|
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
|
NM_000501.4(ELN):c.1096+12TG[18]
|
rs10579871
|
|
|
NM_000501.4(ELN):c.1096+12TG[20]
|
rs10579871
|
|
|
NM_000501.4(ELN):c.1096+12TG[21]
|
rs10579871
|
|
|
NM_000501.4(ELN):c.1096+12TG[22]
|
rs10579871
|
|
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
|
NM_000507.4(FBP1):c.826-15G>A
|
rs148942437
|
|
|
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)
|
rs191519947
|
|
|
NM_000512.5(GALNS):c.633+13G>C
|
rs200292757
|
|
|
NM_000516.7(GNAS):c.-178_-171del
|
rs1420599206
|
|
|
NM_000516.7(GNAS):c.-18_-16GCC[9]
|
rs745433225
|
|
|
NM_000516.7(GNAS):c.531-13_531-10del
|
rs576071932
|
|
|
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys)
|
rs281860607
|
|
|
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC
|
rs1596570272
|
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
|
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)
|
rs33918131
|
|
|
NM_000518.5(HBB):c.*56A>G
|
rs537944366
|
|
|
NM_000518.5(HBB):c.363A>C (p.Lys121Asn)
|
rs34726542
|
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
|
NM_000522.5(HOXA13):c.421_422insAGGCGGGCC (p.Gly140_Pro141insGlnAlaGly)
|
rs35599078
|
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
|
NM_000527.5(LDLR):c.1060+7=
|
|
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
|
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)
|
rs373144619
|
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1185G>C (p.Val395=)
|
rs879254818
|
|
|
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT
|
rs879254876
|
|
|
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
|
NM_000527.5(LDLR):c.1586+16G>A
|
|
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
|
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly)
|
rs879255027
|
|
|
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg)
|
rs1302327551
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
|
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)
|
rs774698247
|
|
|
NM_000527.5(LDLR):c.2389+14G>A
|
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
|
NM_000527.5(LDLR):c.2389+5G>A
|
rs879255191
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
|
|
|
NM_000527.5(LDLR):c.2548-23C>T
|
|
|
|
NM_000527.5(LDLR):c.690C>T (p.Asn230=)
|
rs879254643
|
|
|
NM_000527.5(LDLR):c.694+25C>T
|
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
|
NM_000527.5(LDLR):c.940+9C>T
|
|
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.1231-13C>T
|
rs372848519
|
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
|
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)
|
rs28926178
|
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)
|
rs1060503126
|
|
|
NM_000535.7(PMS2):c.17G>C (p.Ser6Thr)
|
rs587781112
|
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
|
NM_000535.7(PMS2):c.2446-19C>T
|
rs1390101876
|
|
|
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)
|
rs747771951
|
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu)
|
rs730881920
|
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
|
NM_000540.3(RYR1):c.10938-6del
|
|
|
|
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)
|
rs760784102
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
|
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=)
|
rs377664510
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
|
NM_000545.8(HNF1A):c.-124G>C
|
rs563304627
|
|
|
NM_000546.6(TP53):c.107C>A (p.Pro36Gln)
|
rs587781866
|
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
|
NM_000546.6(TP53):c.256G>A (p.Ala86Thr)
|
rs587782148
|
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
|
NM_000546.6(TP53):c.63C>T (p.Asp21=)
|
rs1800369
|
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
|
NM_000546.6(TP53):c.932A>G (p.Asn311Ser)
|
rs56184981
|
|
|
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys)
|
rs1567423240
|
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
|
NM_000548.5(TSC2):c.1381G>A (p.Val461Met)
|
rs796053486
|
|
|
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe)
|
rs751984707
|
|
|
NM_000548.5(TSC2):c.1553G>T (p.Gly518Val)
|
rs1229407025
|
|
|
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys)
|
rs149222396
|
|
|
NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln)
|
rs149222396
|
|
|
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg)
|
rs45517202
|
|
|
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)
|
rs758239066
|
|
|
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val)
|
rs1285778253
|
|
|
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val)
|
rs570409651
|
|
|
NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn)
|
rs1060500932
|
|
|
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)
|
rs397515081
|
|
|
NM_000548.5(TSC2):c.1912G>A (p.Val638Met)
|
rs587778730
|
|
|
NM_000548.5(TSC2):c.2072G>A (p.Arg691His)
|
rs370553131
|
|
|
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)
|
rs1013995962
|
|
|
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met)
|
rs778040604
|
|
|
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)
|
rs182538665
|
|
|
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)
|
rs764725850
|
|
|
NM_000548.5(TSC2):c.2180C>T (p.Pro727Leu)
|
rs767086409
|
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
|
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met)
|
rs777614710
|
|
|
NM_000548.5(TSC2):c.2350A>G (p.Lys784Glu)
|
|
|
|
NM_000548.5(TSC2):c.2389A>G (p.Ile797Val)
|
rs1240217406
|
|
|
NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile)
|
rs144329595
|
|
|
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)
|
rs1222477746
|
|
|
NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly)
|
rs1018951391
|
|
|
NM_000548.5(TSC2):c.2849C>T (p.Ala950Val)
|
rs780737734
|
|
|
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro)
|
rs779832805
|
|
|
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser)
|
rs1440361406
|
|
|
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly)
|
rs1060500961
|
|
|
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe)
|
rs886051793
|
|
|
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe)
|
rs371514669
|
|
|
NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser)
|
rs772686090
|
|
|
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met)
|
rs775584262
|
|
|
NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly)
|
rs1060500923
|
|
|
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu)
|
rs1053311636
|
|
|
NM_000548.5(TSC2):c.3493A>G (p.Lys1165Glu)
|
rs375444767
|
|
|
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr)
|
rs773900333
|
|
|
NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala)
|
rs1310948800
|
|
|
NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His)
|
rs1449727037
|
|
|
NM_000548.5(TSC2):c.3867G>C (p.Arg1289Ser)
|
rs1008733639
|
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
|
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)
|
rs45517322
|
|
|
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)
|
rs587778736
|
|
|
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His)
|
rs770396146
|
|
|
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)
|
rs45462593
|
|
|
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)
|
rs1173061992
|
|
|
NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys)
|
rs137854045
|
|
|
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly)
|
rs45517333
|
|
|
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp)
|
rs778925833
|
|
|
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His)
|
rs1060500969
|
|
|
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile)
|
rs1202676769
|
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
|
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu)
|
rs45517352
|
|
|
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)
|
rs760457821
|
|
|
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=)
|
rs551938797
|
|
|
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)
|
rs1060500957
|
|
|
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)
|
rs748936673
|
|
|
NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly)
|
rs1473538868
|
|
|
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)
|
rs376017665
|
|
|
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)
|
rs878854120
|
|
|
NM_000548.5(TSC2):c.674T>C (p.Val225Ala)
|
rs1437259556
|
|
|
NM_000548.5(TSC2):c.745G>C (p.Val249Leu)
|
rs750649974
|
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
|
NM_000552.5(VWF):c.1110-6dup
|
rs534403271
|
|
|
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)
|
rs368366214
|
|
|
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr)
|
rs61749368
|
|
|
NM_000553.6(WRN):c.16T>C (p.Leu6=)
|
rs202148988
|
|
|
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val)
|
rs545431480
|
|
|
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)
|
rs63749927
|
|
|
NM_000642.3(AGL):c.4348-3dup
|
rs886044921
|
|
|
NM_000718.4(CACNA1B):c.2681A>T (p.Lys894Met)
|
|
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
|
NM_000744.7(CHRNA4):c.1726G>C (p.Asp576His)
|
rs537904499
|
|
|
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)
|
rs45588436
|
|
|
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)
|
rs202079239
|
|
|
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn)
|
rs545298641
|
|
|
NM_000784.4(CYP27A1):c.1263+10del
|
rs765426068
|
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[3]
|
rs60484572
|
|
|
NM_000806.5(GABRA1):c.-447G>C
|
rs184629690
|
|
|
NM_000817.3(GAD1):c.265C>T (p.Arg89Trp)
|
rs150841255
|
|
|
NM_000821.7(GGCX):c.2084+12del
|
rs377186328
|
|
|
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala)
|
rs1565452616
|
|
|
NM_000843.4(GRM6):c.2610C>T (p.Gly870=)
|
rs61731186
|
|
|
NM_000875.5(IGF1R):c.*2426del
|
rs398028512
|
|
|
NM_000875.5(IGF1R):c.*63AG[3]
|
rs370196264
|
|
|
NM_000899.5(KITLG):c.67G>A (p.Val23Ile)
|
|
|
|
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)
|
rs8192606
|
|
|
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)
|
rs1444302456
|
|
|
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885
|
|
|
NM_001004051.4(GPRASP2):c.63G>C (p.Glu21Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)
|
rs377504106
|
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
|
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])
|
rs60216939
|
|
|
NM_001008537.3(NEXMIF):c.1998AGA[1] (p.Glu667del)
|
rs764439412
|
|
|
NM_001008537.3(NEXMIF):c.2087G>T (p.Gly696Val)
|
|
|
|
NM_001008537.3(NEXMIF):c.2521A>G (p.Asn841Asp)
|
rs2147440160
|
|
|
NM_001008537.3(NEXMIF):c.2849A>G (p.Tyr950Cys)
|
rs373566578
|
|
|
NM_001008537.3(NEXMIF):c.3638G>A (p.Gly1213Asp)
|
rs1602210996
|
|
|
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)
|
rs1256402686
|
|
|
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg)
|
rs144091742
|
|
|
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys)
|
rs139862860
|
|
|
NM_001017995.3(SH3PXD2B):c.1063-7G>T
|
rs186443822
|
|
|
NM_001018005.2(TPM1):c.148C>A (p.Leu50Ile)
|
rs1060501866
|
|
|
NM_001018115.3(FANCD2):c.1278+3_1278+6del
|
rs369823368
|
|
|
NM_001018115.3(FANCD2):c.1278+5G>T
|
rs796652647
|
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
|
NM_001022.4(RPS19):c.71+12del
|
rs886054470
|
|
|
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)
|
rs79625057
|
|
|
NM_001025295.3(IFITM5):c.82G>A (p.Ala28Thr)
|
|
|
|
NM_001025356.3(ANO6):c.1880+17A>G
|
|
|
|
NM_001025356.3(ANO6):c.2107G>T (p.Ala703Ser)
|
|
|
|
NM_001029883.3(PCARE):c.537T>C (p.Pro179=)
|
rs201965800
|
|
|
NM_001029891.3(PGAM4):c.649G>A (p.Val217Ile)
|
rs376654190
|
|
|
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])
|
rs782547972
|
|
|
NM_001032386.2(SUOX):c.621C>T (p.Tyr207=)
|
rs144469629
|
|
|
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)
|
rs575899061
|
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp)
|
rs200197527
|
|
|
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)
|
rs869025511
|
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
|
NM_001037.5(SCN1B):c.522C>A (p.Leu174=)
|
rs35478147
|
|
|
NM_001037131.3(AGAP1):c.958T>C (p.Ser320Pro)
|
|
|
|
NM_001039141.3(TRIOBP):c.1591G>A (p.Ala531Thr)
|
rs201112075
|
|
|
NM_001039141.3(TRIOBP):c.4703C>G (p.Ala1568Gly)
|
rs569914227
|
|
|
NM_001039141.3(TRIOBP):c.6472+14G>T
|
rs45503898
|
|
|
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr)
|
rs148409389
|
|
|
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile)
|
rs28756990
|
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
|
NM_001040142.2(SCN2A):c.-51-1735del
|
rs67417831
|
|
|
NM_001040142.2(SCN2A):c.-51-1736_-51-1735del
|
rs67417831
|
|
|
NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup
|
rs67417831
|
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
|
NM_001040436.3(YARS2):c.1104-16dup
|
rs761612441
|
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
|
NM_001040716.2(PC):c.2224-31TC[8]
|
rs139065746
|
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
|
NM_001042472.3(ABHD12):c.788-10_788-7del
|
rs565270893
|
|
|
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys)
|
rs786202436
|
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
|
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)
|
rs758691069
|
|
|
NM_001042492.3(NF1):c.4332+22_4332+25del
|
rs768273651
|
|
|
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr)
|
rs750869272
|
|
|
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del)
|
rs786203184
|
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
|
NM_001042492.3(NF1):c.7870-13dup
|
rs369360556
|
|
|
NM_001042492.3(NF1):c.7870-20A>G
|
rs574898272
|
|
|
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr)
|
rs200018583
|
|
|
NM_001042545.2(LTBP4):c.1355_1366del (p.Asp452_Pro455del)
|
rs529188563
|
|
|
NM_001042646.3(TRAK1):c.1963+101GGA[12]
|
rs10634555
|
|
|
NM_001042681.2(RERE):c.2449_2460dup (p.Pro817_Pro820dup)
|
rs749071713
|
|
|
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly)
|
rs17304212
|
|
|
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys)
|
rs17304212
|
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
|
NM_001079520.2(DACT1):c.817G>A (p.Glu273Lys)
|
|
|
|
NM_001079802.2(FKTN):c.-90del
|
rs727502845
|
|
|
NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)
|
|
|
|
NM_001080495.3(TNRC18):c.7584G>T (p.Glu2528Asp)
|
rs538690867
|
|
|
NM_001083116.3(PRF1):c.434T>C (p.Val145Ala)
|
rs535296791
|
|
|
NM_001083116.3(PRF1):c.519G>C (p.Thr173=)
|
rs112883709
|
|
|
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu)
|
rs1555504721
|
|
|
NM_001083614.2(EARS2):c.569G>A (p.Arg190His)
|
rs533072942
|
|
|
NM_001083961.2(WDR62):c.1233+15del
|
rs373693641
|
|
|
NM_001083961.2(WDR62):c.1233+15dup
|
rs373693641
|
|
|
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=)
|
rs2301734
|
|
|
NM_001083961.2(WDR62):c.269+12del
|
rs797046108
|
|
|
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del)
|
rs794727435
|
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
|
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del)
|
rs56717389
|
|
|
NM_001100913.3(PACS2):c.1049C>T (p.Pro350Leu)
|
|
|
|
NM_001100913.3(PACS2):c.2692G>A (p.Gly898Arg)
|
|
|
|
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)
|
rs200549195
|
|
|
NM_001101426.4(CRPPA):c.836-19dup
|
rs3839757
|
|
|
NM_001103.4(ACTN2):c.-98CGCCGCC[4]
|
rs552471202
|
|
|
NM_001104631.2(PDE4D):c.1930C>T (p.Arg644Cys)
|
|
|
|
NM_001104631.2(PDE4D):c.2180G>A (p.Arg727Gln)
|
|
|
|
NM_001110556.2(FLNA):c.3208-5del
|
rs781907036
|
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
|
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del)
|
rs782174572
|
|
|
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del)
|
rs267608406
|
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
|
NM_001110792.2(MECP2):c.191A>G (p.His64Arg)
|
rs61754433
|
|
|
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)
|
rs587783744
|
|
|
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup)
|
rs587783744
|
|
|
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys)
|
rs141382970
|
|
|
NM_001110792.2(MECP2):c.785G>A (p.Arg262His)
|
rs61750227
|
|
|
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro)
|
rs987032967
|
|
|
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=)
|
rs782748833
|
|
|
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His)
|
rs868984872
|
|
|
NM_001113378.2(FANCI):c.3816+17_3816+19del
|
rs374324314
|
|
|
NM_001113491.2(SEPTIN9):c.76+13013GAG[6]
|
rs372287642
|
|
|
NM_001114753.3(ENG):c.-115G>C
|
rs546892762
|
|
|
NM_001114753.3(ENG):c.1429-9_1429-6dup
|
rs762494923
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])
|
rs759134767
|
|
|
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)
|
rs1569155643
|
|
|
NM_001127208.3(TET2):c.2429A>G (p.Gln810Arg)
|
rs28555446
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)
|
rs184723350
|
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
|
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)
|
rs554393704
|
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
|
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)
|
rs2304094
|
|
|
NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu)
|
rs1755409878
|
|
|
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser)
|
rs139793542
|
|
|
NM_001127644.2(GABRA1):c.703+8C>A
|
rs376693195
|
|
|
NM_001127671.2(LIFR):c.143-37GT[11]
|
rs10637374
|
|
|
NM_001127671.2(LIFR):c.143-37GT[12]
|
rs10637374
|
|
|
NM_001127671.2(LIFR):c.143-37GT[13]
|
rs10637374
|
|
|
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)
|
rs72758823
|
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
|
NM_001130823.3(DNMT1):c.3948+4G>A
|
rs774356396
|
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
|
NM_001130987.2(DYSF):c.1985-15G>T
|
rs146407633
|
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
|
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly)
|
rs199830512
|
|
|
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr)
|
rs969716149
|
|
|
NM_001136191.3(KANK2):c.1519G>A (p.Gly507Arg)
|
|
|
|
NM_001142459.2(ASB10):c.731G>A (p.Arg244His)
|
rs104886476
|
|
|
NM_001142800.2(EYS):c.1460-5dup
|
rs771064426
|
|
|
NM_001142800.2(EYS):c.359C>G (p.Thr120Arg)
|
rs12193967
|
|
|
NM_001142800.2(EYS):c.6079-24TC[8]
|
rs35395170
|
|
|
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)
|
rs536788112
|
|
|
NM_001142864.4(PIEZO1):c.1006C>T (p.Arg336Cys)
|
|
|
|
NM_001142864.4(PIEZO1):c.1009C>T (p.Pro337Ser)
|
|
|
|
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile)
|
rs902069811
|
|
|
NM_001142864.4(PIEZO1):c.1364C>T (p.Thr455Met)
|
|
|
|
NM_001142864.4(PIEZO1):c.1375C>T (p.Arg459Cys)
|
|
|
|
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met)
|
rs747301309
|
|
|
NM_001142864.4(PIEZO1):c.1466G>A (p.Arg489His)
|
|
|
|
NM_001142864.4(PIEZO1):c.1682C>T (p.Thr561Met)
|
|
|
|
NM_001142864.4(PIEZO1):c.1828C>T (p.Leu610Phe)
|
|
|
|
NM_001142864.4(PIEZO1):c.1930G>A (p.Val644Ile)
|
|
|
|
NM_001142864.4(PIEZO1):c.2132T>A (p.Met711Lys)
|
|
|
|
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del)
|
rs59446030
|
|
|
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup)
|
rs59446030
|
|
|
NM_001142864.4(PIEZO1):c.2696C>T (p.Thr899Met)
|
|
|
|
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met)
|
rs554899632
|
|
|
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp)
|
rs765257824
|
|
|
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr)
|
rs770222800
|
|
|
NM_001142864.4(PIEZO1):c.3416G>A (p.Arg1139Gln)
|
rs747323210
|
|
|
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
|
|
|
|
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.3631C>T (p.Arg1211Cys)
|
|
|
|
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG
|
rs1904465031
|
|
|
NM_001142864.4(PIEZO1):c.3818A>G (p.Asp1273Gly)
|
|
|
|
NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu)
|
rs748928863
|
|
|
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His)
|
|
|
|
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser)
|
rs763940836
|
|
|
NM_001142864.4(PIEZO1):c.5012G>A (p.Arg1671Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu)
|
|
|
|
NM_001142864.4(PIEZO1):c.5590C>T (p.Arg1864Cys)
|
|
|
|
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His)
|
|
|
|
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
|
|
|
|
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys)
|
|
|
|
NM_001142864.4(PIEZO1):c.6443T>C (p.Ile2148Thr)
|
|
|
|
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del)
|
rs763477215
|
|
|
NM_001142864.4(PIEZO1):c.6584C>T (p.Ser2195Leu)
|
|
|
|
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile)
|
rs546338962
|
|
|
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys)
|
|
|
|
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
|
|
|
|
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.7150G>A (p.Gly2384Ser)
|
|
|
|
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.7234C>T (p.Arg2412Trp)
|
|
|
|
NM_001142864.4(PIEZO1):c.7316+4AGTG[3]
|
rs368997650
|
|
|
NM_001142864.4(PIEZO1):c.7333G>A (p.Val2445Met)
|
|
|
|
NM_001142864.4(PIEZO1):c.757G>A (p.Gly253Arg)
|
|
|
|
NM_001142864.4(PIEZO1):c.769G>A (p.Ala257Thr)
|
|
|
|
NM_001144967.3(NEDD4L):c.1249A>G (p.Ile417Val)
|
rs1057524052
|
|
|
NM_001144967.3(NEDD4L):c.450G>T (p.Met150Ile)
|
rs2059009305
|
|
|
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)
|
rs2307890
|
|
|
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)
|
rs556640912
|
|
|
NM_001148.6(ANK2):c.11032+17G>A
|
rs587780853
|
|
|
NM_001148.6(ANK2):c.2806C>G (p.Leu936Val)
|
rs786205725
|
|
|
NM_001148.6(ANK2):c.3379+4C>A
|
rs752152002
|
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
|
NM_001160372.4(TRAPPC9):c.*532G>A
|
rs187594197
|
|
|
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=)
|
rs145960296
|
|
|
NM_001161352.2(KCNMA1):c.1131+11dup
|
rs545073914
|
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
|
NM_001161748.2(LIM2):c.337G>A (p.Val113Met)
|
rs73934370
|
|
|
NM_001162501.2(TNRC6B):c.3961CAG[5] (p.Gln1326_Gln1328del)
|
|
|
|
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val)
|
rs535926481
|
|
|
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn)
|
rs201483656
|
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
|
NM_001164508.2(NEB):c.17635-3del
|
rs3214503
|
|
|
NM_001164508.2(NEB):c.18579+11C>T
|
rs567282220
|
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
|
NM_001164508.2(NEB):c.20467-5_20467-4dup
|
rs10687343
|
|
|
NM_001164508.2(NEB):c.20467-6_20467-4dup
|
rs10687343
|
|
|
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr)
|
rs140967744
|
|
|
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser)
|
rs751394716
|
|
|
NM_001164508.2(NEB):c.5971-6dup
|
rs551520922
|
|
|
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser)
|
rs768864684
|
|
|
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu)
|
rs549227905
|
|
|
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln)
|
rs200930670
|
|
|
NM_001165963.4(SCN1A):c.2044-5dup
|
rs549232924
|
|
|
NM_001165963.4(SCN1A):c.3705+10del
|
rs570862962
|
|
|
NM_001166108.2(PALLD):c.999G>T (p.Glu333Asp)
|
|
|
|
NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=)
|
rs577065342
|
|
|
NM_001166355.2(LFNG):c.163_166dup (p.Glu56delinsGlyTer)
|
rs34637446
|
|
|
NM_001167.4(XIAP):c.*5180dup
|
rs60841987
|
|
|
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)
|
rs199683465
|
|
|
NM_001171038.2(ASMT):c.562+2T>C
|
|
|
|
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)
|
rs1574568704
|
|
|
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile)
|
rs764205432
|
|
|
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser)
|
rs375141410
|
|
|
NM_001173467.3(SP7):c.-47-15dup
|
rs886049660
|
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
|
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly)
|
rs529580146
|
|
|
NM_001182.5(ALDH7A1):c.313-15G>A
|
rs201720741
|
|
|
NM_001183.6(ATP6AP1):c.1030C>T (p.Arg344Cys)
|
|
|
|
NM_001184.4(ATR):c.5739-11_5739-4del
|
rs797045404
|
|
|
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup)
|
rs746953076
|
|
|
NM_001190274.2(FBXO11):c.427T>G (p.Ser143Ala)
|
rs1284695050
|
|
|
NM_001190274.2(FBXO11):c.924G>C (p.Met308Ile)
|
rs1219431687
|
|
|
NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe)
|
rs886038419
|
|
|
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)
|
rs555444131
|
|
|
NM_001199397.3(NEK1):c.1081-8dup
|
rs398124255
|
|
|
NM_001202.6(BMP4):c.*146_*148dup
|
rs1555339771
|
|
|
NM_001202.6(BMP4):c.*148_*149insAAT
|
rs796563569
|
|
|
NM_001202.6(BMP4):c.*148_*149insAT
|
rs796563569
|
|
|
NM_001202.6(BMP4):c.*148_*149insT
|
rs796563569
|
|
|
NM_001202.6(BMP4):c.*149G>A
|
rs74495140
|
|
|
NM_001205293.3(CACNA1E):c.3011C>A (p.Thr1004Asn)
|
rs1655719165
|
|
|
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe)
|
|
|
|
NM_001205293.3(CACNA1E):c.5045C>G (p.Thr1682Ser)
|
rs775398717
|
|
|
NM_001205293.3(CACNA1E):c.50G>A (p.Gly17Glu)
|
|
|
|
NM_001205293.3(CACNA1E):c.5762T>G (p.Leu1921Arg)
|
rs770750685
|
|
|
NM_001205293.3(CACNA1E):c.5791G>A (p.Gly1931Ser)
|
|
|
|
NM_001205293.3(CACNA1E):c.6883A>T (p.Met2295Leu)
|
rs377536482
|
|
|
NM_001205293.3(CACNA1E):c.6905A>G (p.Asn2302Ser)
|
rs1662051174
|
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
|
NM_001232.4(CASQ2):c.421-15C>G
|
rs199939582
|
|
|
NM_001242957.3(MAK):c.1184G>T (p.Arg395Leu)
|
rs62000445
|
|
|
NM_001242957.3(MAK):c.843C>T (p.His281=)
|
rs55950618
|
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
|
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)
|
rs10594016
|
|
|
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del)
|
rs10594016
|
|
|
NM_001244008.2(KIF1A):c.865-24CT[2]
|
rs140674901
|
|
|
NM_001244710.2(GFPT1):c.2056-11del
|
rs201268947
|
|
|
NM_001244710.2(GFPT1):c.2056-12_2056-11del
|
rs201268947
|
|
|
NM_001256071.3(RNF213):c.1208GAG[2] (p.Gly405del)
|
rs368221664
|
|
|
NM_001256789.3(CACNA1F):c.2387-19del
|
rs375791434
|
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
|
NM_001267550.2(TTN):c.100766-10del
|
rs749872538
|
|
|
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)
|
rs201857158
|
|
|
NM_001267550.2(TTN):c.12307T>C (p.Leu4103=)
|
rs587780988
|
|
|
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr)
|
rs552951988
|
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA
|
rs1553893826
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.30683-2del
|
rs1553868981
|
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
|
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])
|
rs587780487
|
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
|
NM_001267550.2(TTN):c.40222+2TA[9]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
|
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)
|
rs577298130
|
|
|
NM_001267550.2(TTN):c.43255G>A (p.Val14419Ile)
|
rs529018517
|
|
|
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)
|
rs373298007
|
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
|
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly)
|
rs781195013
|
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
|
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)
|
rs397517660
|
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
|
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)
|
rs587780986
|
|
|
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)
|
rs3731746
|
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
|
NM_001273.5(CHD4):c.1040G>A (p.Arg347Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.10005G>C (p.Glu3335Asp)
|
|
|
|
NM_001277115.2(DNAH11):c.10037G>A (p.Arg3346Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.10064T>C (p.Phe3355Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.10090C>T (p.Arg3364Trp)
|
|
|
|
NM_001277115.2(DNAH11):c.10091G>A (p.Arg3364Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.10303T>A (p.Cys3435Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.10372A>G (p.Met3458Val)
|
|
|
|
NM_001277115.2(DNAH11):c.10379C>T (p.Thr3460Met)
|
rs573384750
|
|
|
NM_001277115.2(DNAH11):c.10399G>T (p.Ala3467Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.10431A>C (p.Arg3477Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.10669A>G (p.Arg3557Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.10879G>A (p.Asp3627Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.11105G>A (p.Arg3702Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.11232C>G (p.Ile3744Met)
|
rs201120788
|
|
|
NM_001277115.2(DNAH11):c.11276T>A (p.Ile3759Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.11426G>A (p.Arg3809Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.11534G>A (p.Arg3845Gln)
|
rs371438607
|
|
|
NM_001277115.2(DNAH11):c.11683G>A (p.Ala3895Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.11691-20dup
|
rs5882827
|
|
|
NM_001277115.2(DNAH11):c.12052G>A (p.Val4018Ile)
|
rs578153138
|
|
|
NM_001277115.2(DNAH11):c.12058A>G (p.Met4020Val)
|
|
|
|
NM_001277115.2(DNAH11):c.12317A>T (p.Tyr4106Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.12673C>G (p.Leu4225Val)
|
rs777887934
|
|
|
NM_001277115.2(DNAH11):c.12890G>A (p.Arg4297Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.13054A>T (p.Asn4352Tyr)
|
|
|
|
NM_001277115.2(DNAH11):c.13184G>A (p.Arg4395Gln)
|
rs368249392
|
|
|
NM_001277115.2(DNAH11):c.1411T>G (p.Leu471Val)
|
|
|
|
NM_001277115.2(DNAH11):c.152G>C (p.Arg51Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.1535T>C (p.Met512Thr)
|
rs72655984
|
|
|
NM_001277115.2(DNAH11):c.1543T>A (p.Cys515Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.1688A>G (p.Asn563Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.1966C>T (p.Arg656Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.1978T>C (p.Leu660=)
|
rs771896570
|
|
|
NM_001277115.2(DNAH11):c.2075G>A (p.Ser692Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.2111A>T (p.Gln704Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.2354T>C (p.Ile785Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.2441A>G (p.Glu814Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.2464G>A (p.Glu822Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.2491C>G (p.Gln831Glu)
|
|
|
|
NM_001277115.2(DNAH11):c.2578G>T (p.Ala860Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.2614A>G (p.Lys872Glu)
|
|
|
|
NM_001277115.2(DNAH11):c.2693A>G (p.Asn898Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val)
|
|
|
|
NM_001277115.2(DNAH11):c.3474G>C (p.Gln1158His)
|
|
|
|
NM_001277115.2(DNAH11):c.3557C>T (p.Thr1186Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.3566T>C (p.Leu1189Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.3635A>G (p.Tyr1212Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.3685G>A (p.Ala1229Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.3775G>A (p.Ala1259Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.4066A>G (p.Met1356Val)
|
|
|
|
NM_001277115.2(DNAH11):c.4127T>A (p.Val1376Asp)
|
|
|
|
NM_001277115.2(DNAH11):c.4132G>A (p.Asp1378Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.4159G>A (p.Val1387Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.4233C>G (p.His1411Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.4450C>G (p.Pro1484Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.4519C>T (p.Leu1507Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.4624A>G (p.Thr1542Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.4708G>A (p.Val1570Met)
|
|
|
|
NM_001277115.2(DNAH11):c.4760T>C (p.Val1587Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.4777A>G (p.Arg1593Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.4785T>G (p.Asn1595Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.4864C>T (p.Arg1622Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.5037G>A (p.Met1679Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.5059G>A (p.Val1687Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.5194C>G (p.Leu1732Val)
|
|
|
|
NM_001277115.2(DNAH11):c.5258A>G (p.Asp1753Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.5294A>G (p.Tyr1765Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.5395A>C (p.Ile1799Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.563T>G (p.Met188Arg)
|
rs768697972
|
|
|
NM_001277115.2(DNAH11):c.5675C>T (p.Ala1892Val)
|
|
|
|
NM_001277115.2(DNAH11):c.5919G>T (p.Lys1973Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.6032C>T (p.Ala2011Val)
|
|
|
|
NM_001277115.2(DNAH11):c.6185A>G (p.His2062Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.6245G>C (p.Arg2082Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.674A>G (p.Gln225Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.7144G>A (p.Val2382Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.7240T>G (p.Phe2414Val)
|
|
|
|
NM_001277115.2(DNAH11):c.7331C>T (p.Pro2444Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.7450G>A (p.Val2484Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.7471C>T (p.Arg2491Cys)
|
rs267601454
|
|
|
NM_001277115.2(DNAH11):c.7472G>A (p.Arg2491His)
|
rs369438218
|
|
|
NM_001277115.2(DNAH11):c.7559T>C (p.Val2520Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.7604G>A (p.Arg2535His)
|
|
|
|
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=)
|
rs2072221
|
|
|
NM_001277115.2(DNAH11):c.7729G>A (p.Asp2577Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.7973A>G (p.Tyr2658Cys)
|
rs377216163
|
|
|
NM_001277115.2(DNAH11):c.7982T>C (p.Ile2661Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.811C>T (p.His271Tyr)
|
rs751575627
|
|
|
NM_001277115.2(DNAH11):c.8143A>G (p.Asn2715Asp)
|
|
|
|
NM_001277115.2(DNAH11):c.817T>C (p.Ser273Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.8252T>C (p.Ile2751Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.847A>G (p.Met283Val)
|
|
|
|
NM_001277115.2(DNAH11):c.8720C>A (p.Pro2907His)
|
|
|
|
NM_001277115.2(DNAH11):c.8782G>A (p.Asp2928Asn)
|
rs768758217
|
|
|
NM_001277115.2(DNAH11):c.8794T>G (p.Ser2932Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.8880G>A (p.Met2960Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.9013T>C (p.Cys3005Arg)
|
rs369196786
|
|
|
NM_001277115.2(DNAH11):c.9089C>A (p.Thr3030Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.9218G>A (p.Ser3073Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.9250C>G (p.Leu3084Val)
|
|
|
|
NM_001277115.2(DNAH11):c.9325A>T (p.Thr3109Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.9376G>A (p.Glu3126Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.9448C>T (p.Arg3150Trp)
|
|
|
|
NM_001277115.2(DNAH11):c.958G>A (p.Asp320Asn)
|
|
|
|
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
|
|
|
|
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
|
|
|
|
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
|
|
|
|
NM_001278182.2(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla)
|
rs1553745484
|
|
|
NM_001278298.2(COL6A5):c.1030C>G (p.Leu344Val)
|
|
|
|
NM_001278298.2(COL6A5):c.3031G>A (p.Asp1011Asn)
|
|
|
|
NM_001278669.2(NFATC1):c.2032G>A (p.Val678Ile)
|
|
|
|
NM_001289125.3(IFNAR2):c.541-50A>G
|
|
|
|
NM_001290043.2(TAP2):c.1144-6_1144-5delinsAC
|
rs386699797
|
|
|
NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[3] (p.2285EEEEER[5])
|
rs763153590
|
|
|
NM_001291303.3(FAT4):c.3515C>T (p.Thr1172Ile)
|
rs535333070
|
|
|
NM_001292063.2(OTOG):c.1353C>A (p.Phe451Leu)
|
rs189947237
|
|
|
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup)
|
rs141566950
|
|
|
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu)
|
rs7190978
|
|
|
NM_001303.4(COX10):c.773T>A (p.Leu258His)
|
rs587780911
|
|
|
NM_001312909.2(FAM111A):c.281_290del (p.Leu94fs)
|
rs759624749
|
|
|
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu)
|
rs183533911
|
|
|
NM_001330239.4(TJP1):c.3229C>A (p.Arg1077Ser)
|
rs201899316
|
|
|
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1])
|
rs758276968
|
|
|
NM_001330260.2(SCN8A):c.1999-5del
|
rs769940455
|
|
|
NM_001330360.2(POLA1):c.1573A>G (p.Met525Val)
|
|
|
|
NM_001332.4(CTNND2):c.1480G>A (p.Gly494Ser)
|
rs34001856
|
|
|
NM_001348800.3(ZBTB20):c.239G>A (p.Ser80Asn)
|
|
|
|
NM_001349338.3(FOXP1):c.*1231_*1235dup
|
rs373349025
|
|
|
NM_001349338.3(FOXP1):c.*4029del
|
rs753706183
|
|
|
NM_001349338.3(FOXP1):c.1147-9dup
|
rs774665288
|
|
|
NM_001349338.3(FOXP1):c.142G>C (p.Ala48Pro)
|
|
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
|
NM_001355436.2(SPTB):c.1431G>A (p.Arg477=)
|
rs886050626
|
|
|
NM_001355436.2(SPTB):c.5652G>A (p.Ala1884=)
|
rs146536978
|
|
|
NM_001355436.2(SPTB):c.6270-8_6270-6dup
|
rs528966701
|
|
|
NM_001356.5(DDX3X):c.1616-4_1616-3del
|
rs751868529
|
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
|
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
|
|
|
|
NM_001360016.2(G6PD):c.486-34del
|
rs3216174
|
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
|
NM_001365276.2(TNXB):c.5103C>A (p.Phe1701Leu)
|
rs201360247
|
|
|
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg)
|
rs61745355
|
|
|
NM_001366385.1(CARD14):c.2219+14T>A
|
rs8069255
|
|
|
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)
|
rs281165933
|
|
|
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val)
|
rs140056980
|
|
|
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val)
|
rs530393871
|
|
|
NM_001367624.2(ZNF469):c.1363C>A (p.Pro455Thr)
|
|
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
|
NM_001367624.2(ZNF469):c.6751A>G (p.Arg2251Gly)
|
|
|
|
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His)
|
rs536601676
|
|
|
NM_001367721.1(CASK):c.1669-6dup
|
rs746809939
|
|
|
NM_001367721.1(CASK):c.891A>G (p.Lys297=)
|
rs544979992
|
|
|
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp)
|
rs140854076
|
|
|
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=)
|
rs41303149
|
|
|
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val)
|
|
|
|
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val)
|
|
|
|
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)
|
rs370684795
|
|
|
NM_001369.3(DNAH5):c.13409C>T (p.Ser4470Leu)
|
|
|
|
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu)
|
rs375037194
|
|
|
NM_001369.3(DNAH5):c.2480G>A (p.Arg827His)
|
|
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
|
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr)
|
rs540038644
|
|
|
NM_001369.3(DNAH5):c.2722A>C (p.Asn908His)
|
|
|
|
NM_001369.3(DNAH5):c.40G>T (p.Val14Phe)
|
|
|
|
NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys)
|
|
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
|
NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys)
|
|
|
|
NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys)
|
|
|
|
NM_001369.3(DNAH5):c.8746C>G (p.Leu2916Val)
|
|
|
|
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln)
|
rs113742238
|
|
|
NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe)
|
|
|
|
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del)
|
rs1060499971
|
|
|
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)
|
rs562257963
|
|
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
|
|
NM_001370259.2(MEN1):c.654+18C>T
|
rs180737290
|
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
|
NM_001370259.2(MEN1):c.655-6C>T
|
rs77461664
|
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
|
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)
|
rs104895438
|
|
|
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys)
|
rs2066845
|
|
|
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del)
|
rs151344581
|
|
|
NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr)
|
rs772318314
|
|
|
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del)
|
rs754444655
|
|
|
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)
|
|
|
|
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr)
|
rs1467598370
|
|
|
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
|
NM_001374385.1(ATP8B1):c.182-5dup
|
rs34583775
|
|
|
NM_001374828.1(ARID1B):c.1238GAGCAGGAG[1] (p.413GAG[1])
|
rs771557031
|
|
|
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433_Gly434insAla)
|
rs797045267
|
|
|
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del)
|
rs797045268
|
|
|
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440_Tyr441insGly)
|
rs797045268
|
|
|
NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=)
|
rs537901478
|
|
|
NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del)
|
rs770512547
|
|
|
NM_001374828.1(ARID1B):c.501CCA[6] (p.His172_Ala173insHis)
|
rs752012879
|
|
|
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1])
|
rs767952510
|
|
|
NM_001374828.1(ARID1B):c.5310T>C (p.Leu1770=)
|
rs372621575
|
|
|
NM_001374828.1(ARID1B):c.5986A>T (p.Ile1996Phe)
|
|
|
|
NM_001375524.1(TRRAP):c.2651C>G (p.Ala884Gly)
|
|
|
|
NM_001375524.1(TRRAP):c.3253A>C (p.Lys1085Gln)
|
|
|
|
NM_001375524.1(TRRAP):c.4415G>A (p.Arg1472His)
|
|
|
|
NM_001375524.1(TRRAP):c.4810G>A (p.Ala1604Thr)
|
|
|
|
NM_001375524.1(TRRAP):c.4900G>A (p.Gly1634Ser)
|
|
|
|
NM_001375524.1(TRRAP):c.4953+5C>T
|
|
|
|
NM_001375524.1(TRRAP):c.9629C>T (p.Thr3210Ile)
|
|
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
|
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)
|
rs201160155
|
|
|
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
|
|
|
|
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)
|
rs386789728
|
|
|
NM_001377.3(DYNC2H1):c.12766-7dup
|
rs747006567
|
|
|
NM_001377.3(DYNC2H1):c.7840-6dup
|
rs886047567
|
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
|
NM_001378183.1(PIEZO2):c.1261G>C (p.Gly421Arg)
|
rs202104395
|
|
|
NM_001378183.1(PIEZO2):c.4537C>G (p.Gln1513Glu)
|
|
|
|
NM_001378328.1(CELSR1):c.8813C>A (p.Pro2938Gln)
|
|
|
|
NM_001378373.1(MBL2):c.*1695G>T
|
rs35768126
|
|
|
NM_001378418.1(TCF20):c.4387G>A (p.Ala1463Thr)
|
|
|
|
NM_001378418.1(TCF20):c.960ACA[2] (p.Gln322del)
|
|
|
|
NM_001378452.1(ITPR1):c.-2A>G
|
rs369723935
|
|
|
NM_001378452.1(ITPR1):c.1033C>A (p.Arg345=)
|
rs369055445
|
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del)
|
rs754175473
|
|
|
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
|
rs746896173
|
|
|
NM_001378454.1(ALMS1):c.9540-7dup
|
rs750386293
|
|
|
NM_001378454.1(ALMS1):c.9782-11dup
|
rs1553414055
|
|
|
NM_001378609.3(OTOGL):c.5729C>T (p.Thr1910Met)
|
rs375155261
|
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
|
NM_001379110.1(SLC9A6):c.*5_*8delinsTT
|
rs797044655
|
|
|
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)
|
rs369050575
|
|
|
NM_001379500.1(COL18A1):c.107-12195G>A
|
rs62000960
|
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
|
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)
|
rs561144747
|
|
|
NM_001384474.1(LOXHD1):c.1810-6C>G
|
rs199804946
|
|
|
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)
|
rs35088381
|
|
|
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg)
|
rs7244681
|
|
|
NM_001385174.1(USP36):c.2134C>A (p.Pro712Thr)
|
rs143307341
|
|
|
NM_001386125.1(OBSCN):c.23385_23386del (p.Ala7795_Ser7796insTer)
|
|
|
|
NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)
|
|
|
|
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser)
|
rs772602972
|
|
|
NM_001386393.1(PANK2):c.255G>T (p.Ser85=)
|
rs375741383
|
|
|
NM_001388308.1(KIF12):c.1715C>G (p.Thr572Ser)
|
|
|
|
NM_001394062.1(MACF1):c.22446_22457del (p.7480GSRA[2])
|
|
|
|
NM_001394372.1(BICRA):c.2351C>T (p.Pro784Leu)
|
|
|
|
NM_001394372.1(BICRA):c.2618T>A (p.Leu873Gln)
|
|
|
|
NM_001394372.1(BICRA):c.3029C>T (p.Pro1010Leu)
|
|
|
|
NM_001394372.1(BICRA):c.3056C>T (p.Pro1019Leu)
|
|
|
|
NM_001394372.1(BICRA):c.4424G>A (p.Arg1475His)
|
|
|
|
NM_001394372.1(BICRA):c.901C>T (p.Leu301Phe)
|
|
|
|
NM_001395413.1(POR):c.1182G>A (p.Ser394=)
|
rs72557928
|
|
|
NM_001437.3(ESR2):c.541_543del (p.Asn181del)
|
rs750091675
|
|
|
NM_001447.3(FAT2):c.10148C>T (p.Ala3383Val)
|
|
|
|
NM_001447.3(FAT2):c.1211T>A (p.Val404Glu)
|
|
|
|
NM_001447.3(FAT2):c.12913G>A (p.Ala4305Thr)
|
|
|
|
NM_001447.3(FAT2):c.5477C>T (p.Ser1826Leu)
|
|
|
|
NM_001447.3(FAT2):c.59A>G (p.Lys20Arg)
|
|
|
|
NM_001447.3(FAT2):c.7463C>T (p.Ala2488Val)
|
|
|
|
NM_001451.3(FOXF1):c.*1176del
|
rs397854726
|
|
|
NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup)
|
rs574179816
|
|
|
NM_001451.3(FOXF1):c.60_62del (p.Gly23del)
|
rs757668134
|
|
|
NM_001457.4(FLNB):c.107G>A (p.Arg36His)
|
rs142568031
|
|
|
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu)
|
rs200902568
|
|
|
NM_001457.4(FLNB):c.3163G>T (p.Val1055Leu)
|
rs9813235
|
|
|
NM_001457.4(FLNB):c.3631G>A (p.Glu1211Lys)
|
|
|
|
NM_001457.4(FLNB):c.5042C>G (p.Pro1681Arg)
|
rs780823510
|
|
|
NM_001457.4(FLNB):c.6634+11C>T
|
rs374708033
|
|
|
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
|
NM_001458.5(FLNC):c.5763_5764inv (p.Ala1922Thr)
|
|
|
|
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)
|
rs201486752
|
|
|
NM_001497.4(B4GALT1):c.412+44dup
|
rs111399879
|
|
|
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
|
|
|
|
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)
|
|
|
|
NM_001540.4(HSPB1):c.-122G>T
|
rs553127513
|
|
|
NM_001543.5(NDST1):c.1749+8dup
|
rs528143978
|
|
|
NM_001558.4(IL10RA):c.67+11G>C
|
rs376956484
|
|
|
NM_001563.4(IMPG1):c.1016C>A (p.Thr339Asn)
|
rs112474181
|
|
|
NM_001563.4(IMPG1):c.1930T>G (p.Ser644Ala)
|
rs1781946410
|
|
|
NM_001609.4(ACADSB):c.1228+21del
|
rs11307362
|
|
|
NM_001643.2(APOA2):c.53-43TG[16]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[17]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[21]
|
rs17244502
|
|
|
NM_001684.5(ATP2B4):c.2977C>T (p.Arg993Cys)
|
|
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
|
NM_001715.3(BLK):c.391C>T (p.Arg131Trp)
|
rs73663163
|
|
|
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)
|
rs2056451534
|
|
|
NM_001770.6(CD19):c.*129GT[14]
|
rs10633752
|
|
|
NM_001807.6(CEL):c.1974del (p.Val659fs)
|
rs1341981506
|
|
|
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=)
|
rs536885536
|
|
|
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His)
|
rs142168567
|
|
|
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met)
|
rs1224083058
|
|
|
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu)
|
rs766480693
|
|
|
NM_001844.5(COL2A1):c.874T>A (p.Tyr292Asn)
|
rs1291318209
|
|
|
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)
|
rs199573161
|
|
|
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)
|
rs146134172
|
|
|
NM_001845.6(COL4A1):c.958-5del
|
|
|
|
NM_001846.4(COL4A2):c.2762A>T (p.Asp921Val)
|
|
|
|
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
|
|
|
|
NM_001851.6(COL9A1):c.1342-16dup
|
rs759288929
|
|
|
NM_001853.4(COL9A3):c.182C>T (p.Pro61Leu)
|
rs149582526
|
|
|
NM_001853.4(COL9A3):c.665C>T (p.Pro222Leu)
|
rs202005710
|
|
|
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu)
|
rs141817156
|
|
|
NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile)
|
rs536428525
|
|
|
NM_001854.4(COL11A1):c.1718C>T (p.Thr573Met)
|
rs202011565
|
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
|
NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
|
|
|
NM_001854.4(COL11A1):c.1948C>T (p.Pro650Ser)
|
|
|
|
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)
|
rs758825857
|
|
|
NM_001854.4(COL11A1):c.2551C>T (p.Pro851Ser)
|
|
|
|
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
|
|
|
|
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val)
|
|
|
|
NM_001854.4(COL11A1):c.361G>A (p.Glu121Lys)
|
|
|
|
NM_001854.4(COL11A1):c.3817-14_3817-13dup
|
rs34228277
|
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
|
NM_001854.4(COL11A1):c.4357-16dup
|
rs748850423
|
|
|
NM_001854.4(COL11A1):c.4692T>G (p.Asp1564Glu)
|
|
|
|
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser)
|
rs75495145
|
|
|
NM_001854.4(COL11A1):c.497G>A (p.Arg166Gln)
|
rs142753283
|
|
|
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys)
|
rs184606223
|
|
|
NM_001854.4(COL11A1):c.565C>A (p.Pro189Thr)
|
rs201557468
|
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
|
NM_001854.4(COL11A1):c.652-7_652-6dup
|
rs36076089
|
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
|
NM_001940.4(ATN1):c.1509_1511dup (p.His504_Gly505insHis)
|
|
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
|
NM_001958.5(EEF1A2):c.1029+3G>T
|
rs111392970
|
|
|
NM_001985.3(ETFB):c.58-57dup
|
rs74357706
|
|
|
NM_002049.4(GATA1):c.196G>A (p.Ala66Thr)
|
|
|
|
NM_002055.5(GFAP):c.462-8dup
|
rs572562362
|
|
|
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)
|
rs561646250
|
|
|
NM_002113.3(CFHR1):c.431-2A>G
|
|
|
|
NM_002224.4(ITPR3):c.4218C>G (p.Ile1406Met)
|
|
|
|
NM_002241.5(KCNJ10):c.*1970GT[21]
|
rs56656397
|
|
|
NM_002241.5(KCNJ10):c.*1970GT[22]
|
rs56656397
|
|
|
NM_002241.5(KCNJ10):c.*1970GT[24]
|
rs56656397
|
|
|
NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup)
|
rs3831942
|
|
|
NM_002283.4(KRT85):c.190C>A (p.Pro64Thr)
|
|
|
|
NM_002294.3(LAMP2):c.-4G>C
|
rs200297370
|
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
|
NM_002296.4(LBR):c.629G>T (p.Gly210Val)
|
rs565288775
|
|
|
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln)
|
rs200389686
|
|
|
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)
|
rs72555376
|
|
|
NM_002336.3(LRP6):c.113A>G (p.Asn38Ser)
|
|
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
|
NM_002381.5(MATN3):c.90C>G (p.Pro30=)
|
rs996766896
|
|
|
NM_002382.5(MAX):c.-126AGTG[4]
|
rs556734672
|
|
|
NM_002386.4(MC1R):c.667C>T (p.Arg223Trp)
|
rs372152373
|
|
|
NM_002397.4(MEF2C):c.-450dup
|
rs144197632
|
|
|
NM_002397.4(MEF2C):c.-548_-546CTC[8]
|
rs567979916
|
|
|
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=)
|
rs563513161
|
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
|
NM_002458.3(MUC5B):c.10187C>T (p.Thr3396Met)
|
|
|
|
NM_002458.3(MUC5B):c.13108G>A (p.Ala4370Thr)
|
|
|
|
NM_002458.3(MUC5B):c.15368C>T (p.Ala5123Val)
|
|
|
|
NM_002458.3(MUC5B):c.9539C>T (p.Thr3180Met)
|
|
|
|
NM_002467.6(MYC):c.77A>G (p.Asn26Ser)
|
rs4645959
|
|
|
NM_002470.4(MYH3):c.5254G>T (p.Ala1752Ser)
|
rs34393601
|
|
|
NM_002471.4(MYH6):c.3979-7_3979-5del
|
rs397516764
|
|
|
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC
|
rs727503235
|
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
|
NM_002471.4(MYH6):c.3979-8dup
|
rs193922652
|
|
|
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC
|
rs796876119
|
|
|
NM_002472.3(MYH8):c.5504G>A (p.Arg1835His)
|
rs777055080
|
|
|
NM_002473.6(MYH9):c.2341G>A (p.Asp781Asn)
|
|
|
|
NM_002473.6(MYH9):c.2344G>A (p.Val782Ile)
|
rs139966058
|
|
|
NM_002473.6(MYH9):c.2807C>T (p.Ala936Val)
|
|
|
|
NM_002473.6(MYH9):c.3262G>A (p.Ala1088Thr)
|
|
|
|
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)
|
rs200697030
|
|
|
NM_002473.6(MYH9):c.5807G>A (p.Arg1936Gln)
|
|
|
|
NM_002473.6(MYH9):c.626G>A (p.Arg209Gln)
|
|
|
|
NM_002474.3(MYH11):c.3651+5T>G
|
rs794727439
|
|
|
NM_002474.3(MYH11):c.3651+5_3651+11delinsG
|
rs371843272
|
|
|
NM_002474.3(MYH11):c.3651+6_3651+11del
|
rs371843272
|
|
|
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)
|
rs749424185
|
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
|
NM_002500.5(NEUROD1):c.723C>G (p.His241Gln)
|
rs561017686
|
|
|
NM_002519.3(NPAT):c.1339G>A (p.Val447Met)
|
|
|
|
NM_002519.3(NPAT):c.1862T>C (p.Val621Ala)
|
|
|
|
NM_002519.3(NPAT):c.3137C>T (p.Pro1046Leu)
|
|
|
|
NM_002528.7(NTHL1):c.792-3C>T
|
rs3087467
|
|
|
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=)
|
rs553270591
|
|
|
NM_002578.5(PAK3):c.525_527del (p.Asp175del)
|
rs770793505
|
|
|
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
|
|
|
|
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
|
|
|
|
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)
|
|
|
|
NM_002615.7(SERPINF1):c.643+8C>T
|
rs149399910
|
|
|
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln)
|
rs1602206653
|
|
|
NM_002691.4(POLD1):c.1384-13C>G
|
rs536467012
|
|
|
NM_002691.4(POLD1):c.1494+5C>T
|
rs565428379
|
|
|
NM_002691.4(POLD1):c.2006+15T>C
|
rs569748371
|
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
|
NM_002691.4(POLD1):c.2443TCC[1] (p.Ser816del)
|
rs763850764
|
|
|
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr)
|
rs778990190
|
|
|
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)
|
rs769735492
|
|
|
NM_002693.3(POLG):c.2109C>T (p.Ala703=)
|
rs2307429
|
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
|
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)
|
rs144346886
|
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
|
NM_002693.3(POLG):c.975C>A (p.Pro325=)
|
rs551973680
|
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
|
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter)
|
rs147366981
|
|
|
NM_002769.5(PRSS1):c.200+1G>A
|
rs143909348
|
|
|
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys)
|
rs145867820
|
|
|
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val)
|
rs747228052
|
|
|
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)
|
rs544300820
|
|
|
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)
|
rs529719024
|
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
|
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)
|
rs397507534
|
|
|
NM_002878.4(RAD51D):c.738+14C>T
|
rs374761868
|
|
|
NM_002878.4(RAD51D):c.904-12TTC[2]
|
rs779850240
|
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
|
NM_002880.4(RAF1):c.1629G>C (p.Thr543=)
|
rs5746244
|
|
|
NM_002887.4(RARS1):c.741G>A (p.Met247Ile)
|
|
|
|
NM_002894.3(RBBP8):c.808-11del
|
rs368252010
|
|
|
NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile)
|
rs2137305371
|
|
|
NM_002941.4(ROBO1):c.4800T>G (p.Asp1600Glu)
|
|
|
|
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)
|
rs113614842
|
|
|
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)
|
rs113614842
|
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
|
NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu)
|
rs146894194
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[9]
|
rs149491709
|
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
|
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)
|
rs121908893
|
|
|
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)
|
|
|
|
NM_003070.5(SMARCA2):c.2400G>T (p.Val800=)
|
|
|
|
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro)
|
rs751906633
|
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[4] (p.229GP[9])
|
rs372601826
|
|
|
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])
|
rs568390760
|
|
|
NM_003106.4(SOX2):c.859G>C (p.Ala287Pro)
|
rs760688357
|
|
|
NM_003108.4(SOX11):c.588C>A (p.Asp196Glu)
|
rs544581532
|
|
|
NM_003108.4(SOX11):c.697G>A (p.Asp233Asn)
|
|
|
|
NM_003119.4(SPG7):c.1780-16_1780-14del
|
rs863224213
|
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
|
NM_003126.4(SPTA1):c.1834-14del
|
rs3039789
|
|
|
NM_003126.4(SPTA1):c.1834-15_1834-14del
|
rs3039789
|
|
|
NM_003126.4(SPTA1):c.1834-16_1834-14del
|
rs3039789
|
|
|
NM_003126.4(SPTA1):c.2020G>C (p.Glu674Gln)
|
|
|
|
NM_003126.4(SPTA1):c.2216G>A (p.Arg739His)
|
|
|
|
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
|
|
|
|
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
|
|
|
|
NM_003126.4(SPTA1):c.6120+11del
|
rs750152009
|
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
|
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
|
|
|
|
NM_003126.4(SPTA1):c.6789-19_6789-17dup
|
rs5778083
|
|
|
NM_003221.4(TFAP2B):c.*912CA[6]
|
rs35649205
|
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
|
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)
|
rs727504406
|
|
|
NM_003244.4(TGIF1):c.16+1719dup
|
rs11571509
|
|
|
NM_003283.6(TNNT1):c.751-5C>T
|
rs192248377
|
|
|
NM_003289.4(TPM2):c.773-3del
|
rs35401252
|
|
|
NM_003289.4(TPM2):c.773-5_773-3dup
|
rs35401252
|
|
|
NM_003383.5(VLDLR):c.-42GGC[5]
|
rs71329437
|
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
|
NM_003392.7(WNT5A):c.*1953dup
|
rs78756487
|
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
|
NM_003465.3(CHIT1):c.1155_1156+2del
|
rs143439055
|
|
|
NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val)
|
rs1065761
|
|
|
NM_003465.3(CHIT1):c.493G>A (p.Ala165Thr)
|
|
|
|
NM_003465.3(CHIT1):c.529C>T (p.Arg177Cys)
|
rs200777680
|
|
|
NM_003465.3(CHIT1):c.665C>T (p.Thr222Met)
|
|
|
|
NM_003465.3(CHIT1):c.769G>T (p.Ala257Ser)
|
|
|
|
NM_003465.3(CHIT1):c.807C>T (p.Arg269=)
|
rs560698644
|
|
|
NM_003465.3(CHIT1):c.917T>C (p.Val306Ala)
|
|
|
|
NM_003470.3(USP7):c.12G>C (p.Gln4His)
|
|
|
|
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup)
|
rs576788910
|
|
|
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
|
|
|
|
NM_003482.4(KMT2D):c.13671+10dup
|
rs147210845
|
|
|
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu)
|
rs886043233
|
|
|
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)
|
rs200088180
|
|
|
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del)
|
rs375538882
|
|
|
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=)
|
rs186151848
|
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
|
NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser)
|
rs143711798
|
|
|
NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn)
|
rs368471915
|
|
|
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala)
|
rs772169265
|
|
|
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)
|
rs201623566
|
|
|
NM_003482.4(KMT2D):c.4031T>C (p.Ile1344Thr)
|
|
|
|
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu)
|
rs202217665
|
|
|
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro)
|
rs373234419
|
|
|
NM_003482.4(KMT2D):c.8047-7dup
|
rs200754433
|
|
|
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp)
|
|
|
|
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)
|
rs34391522
|
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
|
NM_003659.4(AGPS):c.*1880AT[8]
|
rs59535792
|
|
|
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)
|
rs71785313
|
|
|
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn)
|
rs201179527
|
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
|
NM_003718.5(CDK13):c.645G>T (p.Glu215Asp)
|
|
|
|
NM_003722.5(TP63):c.*2555dup
|
rs772929136
|
|
|
NM_003737.4(DCHS1):c.701C>G (p.Pro234Arg)
|
rs149022037
|
|
|
NM_003742.4(ABCB11):c.1404T>A (p.Ile468=)
|
rs34200464
|
|
|
NM_003754.3(EIF3F):c.233C>T (p.Pro78Leu)
|
|
|
|
NM_003764.4(STX11):c.*1221dup
|
rs397725572
|
|
|
NM_003835.4(RGS9):c.1521C>G (p.Phe507Leu)
|
rs538728807
|
|
|
NM_003978.5(PSTPIP1):c.1119+5G>C
|
rs756068066
|
|
|
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg)
|
rs369113632
|
|
|
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu)
|
rs200363654
|
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
|
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)
|
rs148135406
|
|
|
NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn)
|
rs202090289
|
|
|
NM_004006.3(DMD):c.932A>G (p.Asp311Gly)
|
rs760932600
|
|
|
NM_004044.7(ATIC):c.1643T>C (p.Val548Ala)
|
|
|
|
NM_004064.5(CDKN1B):c.-7G>A
|
rs751341214
|
|
|
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)
|
rs146083590
|
|
|
NM_004171.4(SLC1A2):c.17G>T (p.Gly6Val)
|
|
|
|
NM_004171.4(SLC1A2):c.668C>A (p.Pro223Gln)
|
rs142741081
|
|
|
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)
|
rs35353912
|
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
|
NM_004273.5(CHST3):c.1380C>A (p.Ala460=)
|
rs369055984
|
|
|
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg)
|
rs762358335
|
|
|
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp)
|
rs61754865
|
|
|
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln)
|
rs3832799
|
|
|
NM_004329.3(BMPR1A):c.1573G>A (p.Val525Ile)
|
rs769233029
|
|
|
NM_004329.3(BMPR1A):c.431-30A>G
|
|
|
|
NM_004329.3(BMPR1A):c.499A>T (p.Met167Leu)
|
rs200951235
|
|
|
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu)
|
rs778886055
|
|
|
NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly)
|
rs747728399
|
|
|
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp)
|
rs747728399
|
|
|
NM_004329.3(BMPR1A):c.943G>A (p.Gly315Arg)
|
rs730881435
|
|
|
NM_004333.6(BRAF):c.68T>A (p.Met23Lys)
|
rs746778122
|
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
|
NM_004336.5(BUB1):c.3196A>G (p.Ile1066Val)
|
|
|
|
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)
|
rs863224725
|
|
|
NM_004360.5(CDH1):c.1711+9G>C
|
rs368770384
|
|
|
NM_004360.5(CDH1):c.200C>G (p.Ala67Gly)
|
rs730881660
|
|
|
NM_004360.5(CDH1):c.408A>G (p.Gln136=)
|
rs1060501229
|
|
|
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)
|
rs781513008
|
|
|
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup)
|
rs780345232
|
|
|
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del)
|
rs755265819
|
|
|
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)
|
rs750178517
|
|
|
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)
|
rs555109138
|
|
|
NM_004380.3(CREBBP):c.4729-14G>A
|
rs130008
|
|
|
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)
|
rs160278
|
|
|
NM_004385.5(VCAN):c.927T>C (p.Thr309=)
|
rs536465380
|
|
|
NM_004403.3(GSDME):c.119dup (p.Lys41fs)
|
rs758488919
|
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
|
NM_004415.4(DSP):c.1848G>A (p.Gln616=)
|
rs1215425090
|
|
|
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)
|
rs755099716
|
|
|
NM_004415.4(DSP):c.36C>T (p.Asn12=)
|
rs886061744
|
|
|
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)
|
rs397516957
|
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
|
NM_004444.5(EPHB4):c.1181G>A (p.Arg394Gln)
|
|
|
|
NM_004444.5(EPHB4):c.2698G>C (p.Asp900His)
|
|
|
|
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
|
|
NM_004484.4(GPC3):c.1033-4250del
|
rs372010975
|
|
|
NM_004519.4(KCNQ3):c.-139dup
|
rs879019805
|
|
|
NM_004519.4(KCNQ3):c.-140_-139dup
|
rs879019805
|
|
|
NM_004519.4(KCNQ3):c.-148_-147insTG
|
rs886062698
|
|
|
NM_004523.4(KIF11):c.1435G>C (p.Glu479Gln)
|
rs547554309
|
|
|
NM_004525.3(LRP2):c.12125G>A (p.Arg4042His)
|
rs199874294
|
|
|
NM_004525.3(LRP2):c.428-8del
|
rs370823033
|
|
|
NM_004531.5(MOCS2):c.-625G>C
|
rs545270303
|
|
|
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr)
|
rs374692105
|
|
|
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
|
NM_004612.4(TGFBR1):c.20C>G (p.Ala7Gly)
|
rs863223802
|
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
|
NM_004655.4(AXIN2):c.174C>T (p.Asn58=)
|
rs763012548
|
|
|
NM_004655.4(AXIN2):c.1927G>T (p.Ala643Ser)
|
rs748005374
|
|
|
NM_004655.4(AXIN2):c.2012G>C (p.Arg671Pro)
|
rs765845684
|
|
|
NM_004655.4(AXIN2):c.594A>G (p.Glu198=)
|
rs1478720065
|
|
|
NM_004655.4(AXIN2):c.629T>C (p.Met210Thr)
|
rs529954883
|
|
|
NM_004655.4(AXIN2):c.738C>A (p.Thr246=)
|
rs201191083
|
|
|
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del)
|
rs776606194
|
|
|
NM_004656.4(BAP1):c.1801A>G (p.Lys601Glu)
|
rs142059527
|
|
|
NM_004656.4(BAP1):c.1805A>T (p.Glu602Val)
|
rs144993791
|
|
|
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del)
|
rs566283411
|
|
|
NM_004793.4(LONP1):c.2581G>A (p.Val861Ile)
|
|
|
|
NM_004795.4(KL):c.2296G>A (p.Gly766Ser)
|
rs114752661
|
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
|
NM_004817.4(TJP2):c.3408-6del
|
rs778863371
|
|
|
NM_004820.5(CYP7B1):c.123-19dup
|
rs8192895
|
|
|
NM_004820.5(CYP7B1):c.260-15dup
|
rs8192896
|
|
|
NM_004839.4(HOMER2):c.763-8del
|
rs567936162
|
|
|
NM_004859.4(CLTC):c.2562-6dup
|
|
|
|
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala)
|
rs577862696
|
|
|
NM_004946.3(DOCK2):c.3073-8A>G
|
rs113289730
|
|
|
NM_004958.4(MTOR):c.272C>T (p.Ala91Val)
|
|
|
|
NM_004958.4(MTOR):c.3578C>T (p.Pro1193Leu)
|
|
|
|
NM_004958.4(MTOR):c.3901C>T (p.Arg1301Cys)
|
rs1646080085
|
|
|
NM_004958.4(MTOR):c.50G>A (p.Ser17Asn)
|
rs200587372
|
|
|
NM_004958.4(MTOR):c.5432G>A (p.Arg1811His)
|
rs751393552
|
|
|
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup)
|
rs770515802
|
|
|
NM_004958.4(MTOR):c.6742G>A (p.Ala2248Thr)
|
rs181023452
|
|
|
NM_004972.4(JAK2):c.2762-10_2762-9del
|
rs529050943
|
|
|
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn)
|
rs1256695300
|
|
|
NM_004977.3(KCNC3):c.1760C>T (p.Pro587Leu)
|
rs554197864
|
|
|
NM_004977.3(KCNC3):c.1774G>A (p.Gly592Arg)
|
|
|
|
NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3])
|
rs764571894
|
|
|
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs)
|
rs763461489
|
|
|
NM_004994.3(MMP9):c.782A>G (p.Asn261Ser)
|
rs144229833
|
|
|
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu)
|
rs35263902
|
|
|
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)
|
rs1597686012
|
|
|
NM_005026.5(PIK3CD):c.163T>G (p.Tyr55Asp)
|
|
|
|
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-24GGC[12] (p.Met1_Glu2insGlyGlyGlyGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-24GGC[13] (p.Met1_Glu2insGlyGlyGlyGlyGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-24GGC[14] (p.Met1_Glu2insGlyGlyGlyGlyGlyGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-24GGC[7]
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.1789C>T (p.His597Tyr)
|
rs779014769
|
|
|
NM_005045.4(RELN):c.5211-7dup
|
rs34125550
|
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
|
NM_005048.4(PTH2R):c.553G>A (p.Val185Met)
|
|
|
|
NM_005104.4(BRD2):c.1497GGA[1] (p.Glu500del)
|
rs3918142
|
|
|
NM_005120.3(MED12):c.4416-77CTCTT[13]
|
rs56658066
|
|
|
NM_005159.5(ACTC1):c.-55CCG[3]
|
rs886051092
|
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
|
NM_005219.5(DIAPH1):c.*1765_*1766dup
|
rs539203577
|
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.402+12del
|
rs555848272
|
|
|
NM_005222.4(DLX6):c.75GCA[6] (p.Gln43_Gln44del)
|
|
|
|
NM_005245.4(FAT1):c.3349G>A (p.Val1117Met)
|
rs149295542
|
|
|
NM_005245.4(FAT1):c.6361A>G (p.Lys2121Glu)
|
|
|
|
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=)
|
rs570981209
|
|
|
NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup)
|
rs761703699
|
|
|
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)
|
rs398124201
|
|
|
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)
|
rs786200975
|
|
|
NM_005249.5(FOXG1):c.672C>G (p.Gly224=)
|
rs587783639
|
|
|
NM_005263.5(GFI1):c.925-40CT[17]
|
rs35896485
|
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
|
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro)
|
rs587782209
|
|
|
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)
|
rs546510242
|
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
|
NM_005422.4(TECTA):c.2737G>A (p.Gly913Ser)
|
|
|
|
NM_005422.4(TECTA):c.5672C>T (p.Thr1891Met)
|
|
|
|
NM_005445.4(SMC3):c.1410-6_1410-3del
|
rs546049291
|
|
|
NM_005458.8(GABBR2):c.2257G>T (p.Ala753Ser)
|
|
|
|
NM_005461.5(MAFB):c.565G>A (p.Gly189Arg)
|
|
|
|
NM_005495.3(SLC17A4):c.37G>T (p.Asp13Tyr)
|
|
|
|
NM_005502.4(ABCA1):c.3104-5dup
|
rs746119307
|
|
|
NM_005502.4(ABCA1):c.319T>G (p.Ser107Ala)
|
|
|
|
NM_005502.4(ABCA1):c.4464+12T>C
|
|
|
|
NM_005502.4(ABCA1):c.613C>A (p.Gln205Lys)
|
|
|
|
NM_005502.4(ABCA1):c.721-10del
|
|
|
|
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
|
|
|
|
NM_005515.4(MNX1):c.375CGC[8] (p.Ala134del)
|
rs548755417
|
|
|
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys)
|
rs570850437
|
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
|
NM_005535.3(IL12RB1):c.1132G>A (p.Gly378Arg)
|
rs401502
|
|
|
NM_005559.4(LAMA1):c.4066G>A (p.Ala1356Thr)
|
|
|
|
NM_005591.4(MRE11):c.1090C>A (p.Arg364=)
|
rs371077728
|
|
|
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)
|
rs540487525
|
|
|
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
|
|
|
|
NM_005632.3(CAPN15):c.2470G>A (p.Ala824Thr)
|
|
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
|
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)
|
rs587781172
|
|
|
NM_005654.6(NR2F1):c.788A>G (p.Asn263Ser)
|
|
|
|
NM_005666.4(CFHR2):c.656_657del (p.Ile219fs)
|
rs558048038
|
|
|
NM_005677.3(COLQ):c.-120_-119CA[9]
|
rs746566925
|
|
|
NM_005677.3(COLQ):c.-122_-121delCG
|
rs530131087
|
|
|
NM_005732.4(RAD50):c.1794-3dup
|
rs1554098578
|
|
|
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln)
|
rs786205707
|
|
|
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)
|
rs543634397
|
|
|
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)
|
rs754074166
|
|
|
NM_005996.4(TBX3):c.-895TC[14]
|
rs57078153
|
|
|
NM_006005.3(WFS1):c.1134C>G (p.Thr378=)
|
rs71530904
|
|
|
NM_006005.3(WFS1):c.114C>T (p.Ser38=)
|
rs531593902
|
|
|
NM_006015.6(ARID1A):c.1649C>A (p.Pro550His)
|
rs761975620
|
|
|
NM_006015.6(ARID1A):c.193C>G (p.Pro65Ala)
|
rs1429977258
|
|
|
NM_006015.6(ARID1A):c.239A>G (p.Asn80Ser)
|
rs1553145891
|
|
|
NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup)
|
rs759913677
|
|
|
NM_006015.6(ARID1A):c.488C>T (p.Ala163Val)
|
rs2080268991
|
|
|
NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup)
|
rs748085214
|
|
|
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)
|
rs749970078
|
|
|
NM_006017.3(PROM1):c.2374-14dup
|
rs370477050
|
|
|
NM_006017.3(PROM1):c.879C>T (p.Ser293=)
|
rs148242593
|
|
|
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe)
|
rs572444748
|
|
|
NM_006031.6(PCNT):c.591_629del (p.Ile197_Gly209del)
|
rs761716576
|
|
|
NM_006031.6(PCNT):c.5994+13dup
|
rs772752236
|
|
|
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del)
|
rs562568796
|
|
|
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
|
rs151325202
|
|
|
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)
|
rs146221263
|
|
|
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser)
|
rs147092908
|
|
|
NM_006073.4(TRDN):c.1369+3dup
|
rs537388823
|
|
|
NM_006079.5(CITED2):c.114CCA[1] (p.His39del)
|
rs749590293
|
|
|
NM_006086.4(TUBB3):c.805G>A (p.Gly269Ser)
|
rs2151092918
|
|
|
NM_006096.4(NDRG1):c.64-20dup
|
rs756038946
|
|
|
NM_006121.4(KRT1):c.78C>T (p.Asn26=)
|
|
|
|
NM_006129.4(BMP1):c.-263_-260GGAG[4]
|
rs750344454
|
|
|
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro)
|
rs1554497641
|
|
|
NM_006208.3(ENPP1):c.313+9GT[16]
|
rs59956343
|
|
|
NM_006208.3(ENPP1):c.313+9GT[17]
|
rs59956343
|
|
|
NM_006208.3(ENPP1):c.313+9GT[20]
|
rs59956343
|
|
|
NM_006208.3(ENPP1):c.313+9GT[22]
|
rs59956343
|
|
|
NM_006208.3(ENPP1):c.523G>A (p.Asp175Asn)
|
|
|
|
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile)
|
rs574033788
|
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
|
NM_006245.4(PPP2R5D):c.1588C>T (p.Pro530Ser)
|
rs140491750
|
|
|
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln)
|
rs374621936
|
|
|
NM_006277.3(ITSN2):c.2939A>G (p.Tyr980Cys)
|
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
|
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu)
|
rs35252762
|
|
|
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met)
|
rs563539429
|
|
|
NM_006420.3(ARFGEF2):c.3758-3del
|
rs797045256
|
|
|
NM_006445.4(PRPF8):c.2182-6dup
|
rs779420760
|
|
|
NM_006502.3(POLH):c.1000C>G (p.Arg334Gly)
|
rs9333548
|
|
|
NM_006506.5(RASA2):c.12_32dup (p.Ala5_Ala11dup)
|
rs1194909078
|
|
|
NM_006506.5(RASA2):c.1549G>T (p.Val517Leu)
|
rs201190266
|
|
|
NM_006506.5(RASA2):c.684+15dup
|
rs769572165
|
|
|
NM_006514.4(SCN10A):c.5475G>A (p.Met1825Ile)
|
|
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
|
NM_006516.4(SLC2A1):c.679+4C>A
|
rs139492241
|
|
|
NM_006516.4(SLC2A1):c.679+4C>T
|
rs139492241
|
|
|
NM_006517.5(SLC16A2):c.97_108del (p.Ser33_Glu36del)
|
rs753170095
|
|
|
NM_006563.5(KLF1):c.809C>G (p.Ser270Trp)
|
rs558942739
|
|
|
NM_006579.3(EBP):c.38C>G (p.Pro13Arg)
|
|
|
|
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)
|
rs754326499
|
|
|
NM_006757.4(TNNT3):c.722+15C>T
|
rs201336939
|
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
|
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile)
|
rs768878991
|
|
|
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser)
|
rs1038956173
|
|
|
NM_006790.3(MYOT):c.1275A>G (p.Ala425=)
|
rs140678912
|
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
|
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del)
|
rs727502780
|
|
|
NM_006922.4(SCN3A):c.3844-19dup
|
rs71028466
|
|
|
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser)
|
rs748632850
|
|
|
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)
|
rs775506222
|
|
|
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)
|
rs58365465
|
|
|
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser)
|
rs61755579
|
|
|
NM_006941.4(SOX10):c.1109C>T (p.Thr370Ile)
|
|
|
|
NM_006941.4(SOX10):c.1241A>C (p.His414Pro)
|
|
|
|
NM_006941.4(SOX10):c.1284G>T (p.Met428Ile)
|
|
|
|
NM_006941.4(SOX10):c.601G>A (p.Ala201Thr)
|
|
|
|
NM_006982.3(ALX1):c.190C>T (p.Arg64Cys)
|
rs145944049
|
|
|
NM_006996.3(SLC19A2):c.205-25dup
|
rs755410874
|
|
|
NM_007055.4(POLR3A):c.1771-5del
|
rs544204280
|
|
|
NM_007055.4(POLR3A):c.1771-6C>A
|
rs115020338
|
|
|
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val)
|
rs786205349
|
|
|
NM_007078.3(LDB3):c.897-6707G>A
|
rs537660741
|
|
|
NM_007118.4(TRIO):c.44C>T (p.Ser15Phe)
|
rs1006366530
|
|
|
NM_007118.4(TRIO):c.6877GGC[7] (p.Gly2298dup)
|
rs749785358
|
|
|
NM_007144.3(PCGF2):c.296C>G (p.Ala99Gly)
|
|
|
|
NM_007144.3(PCGF2):c.841A>C (p.Thr281Pro)
|
|
|
|
NM_007175.8(ERLIN2):c.740-5C>G
|
rs191003311
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
|
NM_007214.5(SEC63):c.1936-27_1936-26dup
|
rs749125299
|
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
|
NM_007254.4(PNKP):c.936+13dup
|
rs3739200
|
|
|
NM_007272.3(CTRC):c.-59C>T
|
rs183658182
|
|
|
NM_007286.6(SYNPO):c.2372CCCCGC[2] (p.Pro795_Pro800del)
|
|
|
|
NM_007286.6(SYNPO):c.2372CCCCGC[3] (p.Pro797_Pro800del)
|
rs769259449
|
|
|
NM_007289.4(MME):c.1189-4G>A
|
rs182602615
|
|
|
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)
|
rs80358325
|
|
|
NM_007294.4(BRCA1):c.1159T>A (p.Ser387Thr)
|
rs876659403
|
|
|
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu)
|
rs80357253
|
|
|
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)
|
rs80357113
|
|
|
NM_007294.4(BRCA1):c.1310A>G (p.His437Arg)
|
rs80357255
|
|
|
NM_007294.4(BRCA1):c.135-20T>G
|
rs80358025
|
|
|
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser)
|
rs80357057
|
|
|
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile)
|
rs80357057
|
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
|
NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly)
|
rs80357245
|
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
|
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe)
|
rs80356956
|
|
|
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys)
|
rs80357005
|
|
|
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly)
|
rs80357105
|
|
|
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)
|
rs28897681
|
|
|
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)
|
rs28897681
|
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
|
NM_007294.4(BRCA1):c.2283A>C (p.Glu761Asp)
|
rs1567796302
|
|
|
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly)
|
rs80357190
|
|
|
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)
|
rs80356899
|
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
|
NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala)
|
rs80357312
|
|
|
NM_007294.4(BRCA1):c.3341AAG[1] (p.Glu1115del)
|
rs80358336
|
|
|
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr)
|
rs80357297
|
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
|
NM_007294.4(BRCA1):c.3463G>C (p.Asp1155His)
|
rs80357484
|
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
|
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)
|
rs80357037
|
|
|
NM_007294.4(BRCA1):c.4097-141A>C
|
rs799916
|
|
|
NM_007294.4(BRCA1):c.4185+10G>A
|
rs80358104
|
|
|
NM_007294.4(BRCA1):c.4186-10G>A
|
rs80358172
|
|
|
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln)
|
rs80357309
|
|
|
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)
|
rs41293455
|
|
|
NM_007294.4(BRCA1):c.4357+7A>G
|
rs431825407
|
|
|
NM_007294.4(BRCA1):c.457A>G (p.Ser153Gly)
|
rs28897674
|
|
|
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr)
|
rs28897691
|
|
|
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met)
|
rs80357431
|
|
|
NM_007294.4(BRCA1):c.4698T>G (p.Ser1566=)
|
rs1246456207
|
|
|
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys)
|
rs1799966
|
|
|
NM_007294.4(BRCA1):c.4895T>G (p.Val1632Gly)
|
rs1397965282
|
|
|
NM_007294.4(BRCA1):c.4981G>A (p.Glu1661Lys)
|
rs80357401
|
|
|
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys)
|
rs80356958
|
|
|
NM_007294.4(BRCA1):c.5152+7A>G
|
rs80358046
|
|
|
NM_007294.4(BRCA1):c.5152+85del
|
rs8176259
|
|
|
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly)
|
rs80357270
|
|
|
NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln)
|
rs80357432
|
|
|
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)
|
rs80357078
|
|
|
NM_007294.4(BRCA1):c.5454C>T (p.Asp1818=)
|
rs1555574705
|
|
|
NM_007294.4(BRCA1):c.5468-10_5468-9del
|
rs273902770
|
|
|
NM_007294.4(BRCA1):c.547+14del
|
rs273902771
|
|
|
NM_007294.4(BRCA1):c.548-58del
|
rs8176144
|
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
|
NM_007294.4(BRCA1):c.671-12del
|
rs273902781
|
|
|
NM_007294.4(BRCA1):c.81-13C>A
|
rs56328013
|
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
|
NM_007294.4(BRCA1):c.81-20C>T
|
rs80358039
|
|
|
NM_007294.4(BRCA1):c.81-5G>A
|
rs1555599296
|
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
|
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro)
|
rs80357252
|
|
|
NM_007332.3(TRPA1):c.365C>T (p.Ala122Val)
|
|
|
|
NM_012062.5(DNM1L):c.251-5dup
|
rs1188011409
|
|
|
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His)
|
rs34316445
|
|
|
NM_012203.1(GRHPR):c.866-25CT[9]
|
rs34302950
|
|
|
NM_012203.2(GRHPR):c.83+52del
|
rs35891798
|
|
|
NM_012205.3(HAAO):c.703G>C (p.Gly235Arg)
|
|
|
|
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu)
|
rs200089613
|
|
|
NM_012309.5(SHANK2):c.4438C>A (p.Pro1480Thr)
|
|
|
|
NM_012418.4(FSCN2):c.829G>A (p.Val277Ile)
|
rs181420326
|
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
|
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)
|
rs1276607391
|
|
|
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg)
|
rs61754640
|
|
|
NM_013335.4(GMPPA):c.486C>G (p.His162Gln)
|
rs36029384
|
|
|
NM_013447.4(ADGRE2):c.1230G>A (p.Met410Ile)
|
rs1005458732
|
|
|
NM_013447.4(ADGRE2):c.1629del (p.Gly543_Leu544insTer)
|
rs747459594
|
|
|
NM_013447.4(ADGRE2):c.1780G>T (p.Gly594Ter)
|
rs148074899
|
|
|
NM_013447.4(ADGRE2):c.208G>A (p.Glu70Lys)
|
rs1010286043
|
|
|
NM_013447.4(ADGRE2):c.2138G>T (p.Arg713Ile)
|
rs200295887
|
|
|
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp)
|
rs548487697
|
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
|
NM_014000.3(VCL):c.622+4C>G
|
rs201020802
|
|
|
NM_014000.3(VCL):c.622+4C>T
|
rs201020802
|
|
|
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)
|
rs143790434
|
|
|
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)
|
rs144934076
|
|
|
NM_014053.4(FLVCR1):c.*2061CA[12]
|
rs139242973
|
|
|
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
|
rs371378288
|
|
|
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=)
|
rs535454043
|
|
|
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=)
|
rs201219937
|
|
|
NM_014159.7(SETD2):c.6970G>T (p.Ala2324Ser)
|
rs1162711197
|
|
|
NM_014208.3(DSPP):c.3461_3462insCGATAGCAGCGACAGCAG (p.1152DSS[11])
|
rs1387872889
|
|
|
NM_014225.6(PPP2R1A):c.1229A>T (p.Glu410Val)
|
rs2122360528
|
|
|
NM_014225.6(PPP2R1A):c.1547T>C (p.Ile516Thr)
|
|
|
|
NM_014236.4(GNPAT):c.569-11del
|
rs199905093
|
|
|
NM_014251.3(SLC25A13):c.1312-12del
|
rs771217878
|
|
|
NM_014251.3(SLC25A13):c.848+9G>T
|
rs201395793
|
|
|
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser)
|
rs151239794
|
|
|
NM_014336.5(AIPL1):c.*151_*152dup
|
rs77115868
|
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
|
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
|
|
|
|
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
|
|
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
|
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
|
|
|
NM_014363.6(SACS):c.12811C>T (p.Pro4271Ser)
|
|
|
|
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
|
|
|
|
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
|
|
|
|
NM_014363.6(SACS):c.1537A>G (p.Ile513Val)
|
|
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
|
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
|
|
|
|
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)
|
|
|
|
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
|
|
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
|
NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser)
|
|
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
|
NM_014391.3(ANKRD1):c.346-29_346-12del
|
rs72003210
|
|
|
NM_014391.3(ANKRD1):c.346-43AT[13]
|
rs60406118
|
|
|
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)
|
rs74315433
|
|
|
NM_014611.3(MDN1):c.991A>G (p.Ile331Val)
|
|
|
|
NM_014639.4(SKIC3):c.3015-14dup
|
rs745805590
|
|
|
NM_014639.4(SKIC3):c.4497-14dup
|
rs755628334
|
|
|
NM_014698.3(TMEM63A):c.828delA (p.Lys277fs)
|
|
|
|
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly)
|
rs548992623
|
|
|
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])
|
rs746697405
|
|
|
NM_014727.3(KMT2B):c.2005C>T (p.Pro669Ser)
|
|
|
|
NM_014727.3(KMT2B):c.2081G>A (p.Arg694Gln)
|
|
|
|
NM_014727.3(KMT2B):c.2236A>G (p.Thr746Ala)
|
|
|
|
NM_014727.3(KMT2B):c.6130G>A (p.Ala2044Thr)
|
|
|
|
NM_014727.3(KMT2B):c.7428C>A (p.Ala2476=)
|
rs368560676
|
|
|
NM_014780.5(CUL7):c.2229C>G (p.Ala743=)
|
rs188565648
|
|
|
NM_014795.4(ZEB2):c.1446A>C (p.Glu482Asp)
|
rs886043609
|
|
|
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=)
|
rs141674976
|
|
|
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr)
|
rs1553961536
|
|
|
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val)
|
rs1360979536
|
|
|
NM_014795.4(ZEB2):c.74-3C>T
|
rs984545941
|
|
|
NM_014795.4(ZEB2):c.807+3G>T
|
rs144925893
|
|
|
NM_014795.4(ZEB2):c.9G>A (p.Gln3=)
|
rs149882004
|
|
|
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=)
|
rs376646346
|
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
|
NM_014845.6(FIG4):c.447-3dup
|
rs11377100
|
|
|
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=)
|
rs113014863
|
|
|
NM_014855.3(AP5Z1):c.2153+8G>A
|
rs189564026
|
|
|
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala)
|
rs188569082
|
|
|
NM_014915.3(ANKRD26):c.2225A>C (p.Lys742Thr)
|
|
|
|
NM_014915.3(ANKRD26):c.2325A>G (p.Ser775=)
|
|
|
|
NM_014915.3(ANKRD26):c.303C>G (p.Asp101Glu)
|
|
|
|
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)
|
rs542793579
|
|
|
NM_014946.4(SPAST):c.586+9_586+12del
|
rs554544808
|
|
|
NM_014947.5(FOXJ3):c.582T>G (p.Ile194Met)
|
|
|
|
NM_014989.7(RIMS1):c.4618+20dup
|
rs113359739
|
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
|
NM_015046.7(SETX):c.7200-11_7200-10del
|
rs531485265
|
|
|
NM_015065.3(EXPH5):c.3268C>G (p.Leu1090Val)
|
|
|
|
NM_015089.4(CUL9):c.4934G>A (p.Arg1645His)
|
|
|
|
NM_015175.3(NBEAL2):c.6691+3_6691+6dup
|
rs557640338
|
|
|
NM_015178.3(RHOBTB2):c.1088G>A (p.Arg363His)
|
|
|
|
NM_015178.3(RHOBTB2):c.853C>G (p.Leu285Val)
|
|
|
|
NM_015202.5(KATNIP):c.980G>A (p.Arg327His)
|
|
|
|
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)
|
rs76290319
|
|
|
NM_015330.6(SPECC1L):c.2168A>G (p.Asp723Gly)
|
|
|
|
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr)
|
rs1231044656
|
|
|
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del)
|
rs762939072
|
|
|
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe)
|
rs542568224
|
|
|
NM_015338.6(ASXL1):c.3910C>G (p.Leu1304Val)
|
rs747267907
|
|
|
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)
|
rs35018134
|
|
|
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)
|
rs144919978
|
|
|
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)
|
rs200979425
|
|
|
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter)
|
rs142096969
|
|
|
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)
|
rs281865473
|
|
|
NM_015459.5(ATL3):c.14A>G (p.Gln5Arg)
|
|
|
|
NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del)
|
rs751809435
|
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
|
NM_015559.3(SETBP1):c.1598C>T (p.Thr533Ile)
|
rs2145099229
|
|
|
NM_015559.3(SETBP1):c.161G>T (p.Arg54Leu)
|
rs140717709
|
|
|
NM_015559.3(SETBP1):c.1844G>A (p.Arg615Gln)
|
|
|
|
NM_015559.3(SETBP1):c.3056G>A (p.Arg1019His)
|
|
|
|
NM_015559.3(SETBP1):c.3397A>T (p.Asn1133Tyr)
|
|
|
|
NM_015559.3(SETBP1):c.3712G>A (p.Asp1238Asn)
|
|
|
|
NM_015559.3(SETBP1):c.4234C>G (p.Arg1412Gly)
|
rs145996171
|
|
|
NM_015559.3(SETBP1):c.4389G>C (p.Gln1463His)
|
rs1019850669
|
|
|
NM_015559.3(SETBP1):c.4769G>C (p.Ser1590Thr)
|
|
|
|
NM_015570.4(AUTS2):c.1999G>A (p.Val667Ile)
|
|
|
|
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu)
|
rs73749732
|
|
|
NM_015627.3(LDLRAP1):c.-80C>A
|
rs575024313
|
|
|
NM_015629.4(PRPF31):c.527+9G>T
|
rs376994481
|
|
|
NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
|
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
|
NM_015713.5(RRM2B):c.551-11_551-10del
|
rs771845744
|
|
|
NM_015721.3(GEMIN4):c.3127G>A (p.Gly1043Ser)
|
|
|
|
NM_015909.4(NBAS):c.1361C>G (p.Pro454Arg)
|
|
|
|
NM_015922.3(NSDHL):c.1108C>T (p.Arg370Trp)
|
rs151248633
|
|
|
NM_015922.3(NSDHL):c.842G>A (p.Arg281His)
|
rs782143078
|
|
|
NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln)
|
rs149009126
|
|
|
NM_016203.4(PRKAG2):c.*896del
|
rs532079387
|
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
|
NM_016222.4(DDX41):c.591G>A (p.Lys197=)
|
|
|
|
NM_016239.4(MYO15A):c.2033C>T (p.Pro678Leu)
|
|
|
|
NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup)
|
rs377177611
|
|
|
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg)
|
rs146754758
|
|
|
NM_016239.4(MYO15A):c.8602-8_8602-5del
|
rs876657907
|
|
|
NM_016239.4(MYO15A):c.950C>T (p.Ala317Val)
|
|
|
|
NM_016247.4(IMPG2):c.534-13dup
|
rs567795716
|
|
|
NM_016277.5(RAB23):c.242-31ATTG[6]
|
rs45542438
|
|
|
NM_016373.4(WWOX):c.*200GGGCT[1]
|
rs144412859
|
|
|
NM_016495.6(TBC1D7):c.833C>G (p.Ala278Gly)
|
|
|
|
NM_016562.4(TLR7):c.274G>A (p.Val92Ile)
|
|
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
|
NM_016642.4(SPTBN5):c.2633A>G (p.Tyr878Cys)
|
|
|
|
NM_016642.4(SPTBN5):c.689G>A (p.Arg230His)
|
|
|
|
NM_016816.4(OAS1):c.913A>G (p.Thr305Ala)
|
|
|
|
NM_016824.5(ADD3):c.2119TAAA[1] (p.Ter707=)
|
rs753541585
|
|
|
NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu)
|
rs113167523
|
|
|
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=)
|
rs28372779
|
|
|
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)
|
rs146664036
|
|
|
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)
|
rs373125283
|
|
|
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)
|
rs775217381
|
|
|
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)
|
rs61751544
|
|
|
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)
|
rs149057410
|
|
|
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met)
|
rs373960609
|
|
|
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)
|
rs1388726872
|
|
|
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)
|
rs367838230
|
|
|
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)
|
rs755659037
|
|
|
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)
|
rs374103443
|
|
|
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)
|
rs779118023
|
|
|
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)
|
rs377165086
|
|
|
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)
|
rs759225800
|
|
|
NM_017636.4(TRPM4):c.1843C>T (p.Leu615=)
|
rs532994978
|
|
|
NM_017636.4(TRPM4):c.92+12G>A
|
rs377431946
|
|
|
NM_017668.3(NDE1):c.*898del
|
rs60544332
|
|
|
NM_017668.3(NDE1):c.*898dup
|
rs60544332
|
|
|
NM_017721.5(CC2D1A):c.696T>G (p.Ser232=)
|
rs534160840
|
|
|
NM_017752.3(TBC1D8B):c.922T>C (p.Trp308Arg)
|
|
|
|
NM_017755.6(NSUN2):c.2194G>A (p.Val732Met)
|
|
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
|
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn)
|
rs1383452692
|
|
|
NM_017827.4(SARS2):c.1530_1538dup (p.Leu511_Gly513dup)
|
rs551671819
|
|
|
NM_017852.5(NLRP2):c.1586C>T (p.Thr529Ile)
|
rs113752373
|
|
|
NM_017882.3(CLN6):c.*141GT[11]
|
rs3837692
|
|
|
NM_017882.3(CLN6):c.*141GT[8]
|
rs3837692
|
|
|
NM_017882.3(CLN6):c.487-12T>A
|
rs571940397
|
|
|
NM_017934.7(PHIP):c.2786A>T (p.Glu929Val)
|
|
|
|
NM_017934.7(PHIP):c.2845A>G (p.Thr949Ala)
|
|
|
|
NM_017934.7(PHIP):c.3506T>C (p.Val1169Ala)
|
|
|
|
NM_017934.7(PHIP):c.3541G>T (p.Ala1181Ser)
|
|
|
|
NM_017934.7(PHIP):c.3916AGA[2] (p.Arg1308del)
|
|
|
|
NM_017934.7(PHIP):c.4096G>A (p.Val1366Ile)
|
|
|
|
NM_017934.7(PHIP):c.4288C>T (p.Arg1430Cys)
|
|
|
|
NM_017934.7(PHIP):c.4323G>T (p.Arg1441Ser)
|
|
|
|
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)
|
rs61686936
|
|
|
NM_018013.4(SOBP):c.2260C>T (p.Pro754Ser)
|
|
|
|
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
|
|
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
|
NM_018122.5(DARS2):c.228-14C>G
|
rs376561321
|
|
|
NM_018124.4(RFWD3):c.560C>A (p.Thr187Asn)
|
|
|
|
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe)
|
rs9895963
|
|
|
NM_018136.5(ASPM):c.9830-8dup
|
rs748383126
|
|
|
NM_018249.6(CDK5RAP2):c.1859-14dup
|
rs747385902
|
|
|
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
|
|
|
|
NM_018417.6(ADCY10):c.3864A>C (p.Lys1288Asn)
|
|
|
|
NM_018451.5(CENPJ):c.2992-17dup
|
rs35599563
|
|
|
NM_018451.5(CENPJ):c.2992-18_2992-17del
|
rs151246139
|
|
|
NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)
|
|
|
|
NM_018699.4(PRDM5):c.1010G>A (p.Arg337His)
|
|
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
|
NM_018896.5(CACNA1G):c.1796C>T (p.Pro599Leu)
|
|
|
|
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His)
|
|
|
|
NM_018896.5(CACNA1G):c.2754+4C>T
|
|
|
|
NM_018896.5(CACNA1G):c.6181G>A (p.Glu2061Lys)
|
|
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
|
NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg)
|
rs72650768
|
|
|
NM_019032.6(ADAMTSL4):c.2178-7C>A
|
rs587746986
|
|
|
NM_019032.6(ADAMTSL4):c.2288C>T (p.Pro763Leu)
|
rs56055939
|
|
|
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2])
|
rs794726941
|
|
|
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3])
|
rs1386125417
|
|
|
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1])
|
rs751352401
|
|
|
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1])
|
rs528108868
|
|
|
NM_019098.5(CNGB3):c.212-6del
|
rs745969238
|
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
|
NM_019098.5(CNGB3):c.339-10dup
|
rs200792506
|
|
|
NM_019842.4(KCNQ5):c.1248-3581G>T
|
|
|
|
NM_019842.4(KCNQ5):c.1358C>T (p.Thr453Ile)
|
rs2150457602
|
|
|
NM_019842.4(KCNQ5):c.2164G>A (p.Asp722Asn)
|
|
|
|
NM_019842.4(KCNQ5):c.392C>T (p.Ala131Val)
|
|
|
|
NM_019842.4(KCNQ5):c.7C>A (p.Arg3Ser)
|
rs549110435
|
|
|
NM_019892.6(INPP5E):c.1034+8G>A
|
rs201272028
|
|
|
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)
|
rs368026621
|
|
|
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)
|
rs10870182
|
|
|
NM_020117.11(LARS1):c.2770-7C>T
|
|
|
|
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
|
rs376462712
|
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
|
NM_020297.4(ABCC9):c.1165-7_1165-6del
|
rs35857705
|
|
|
NM_020320.5(RARS2):c.888G>C (p.Thr296=)
|
rs145189950
|
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
|
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del)
|
rs746050475
|
|
|
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup)
|
rs141295085
|
|
|
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu)
|
rs61746139
|
|
|
NM_020461.4(TUBGCP6):c.1700_1701inv (p.Leu567Ser)
|
|
|
|
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=)
|
rs200417975
|
|
|
NM_020631.6(PLEKHG5):c.2160_2163delinsA (p.Glu723del)
|
rs386628081
|
|
|
NM_020686.6(ABAT):c.540+14CA[13]
|
rs35745596
|
|
|
NM_020693.4(DSCAML1):c.5951C>T (p.Ala1984Val)
|
|
|
|
NM_020765.3(UBR4):c.4793A>T (p.His1598Leu)
|
|
|
|
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs)
|
rs527847958
|
|
|
NM_020800.3(IFT80):c.2224-10dup
|
rs58665245
|
|
|
NM_020821.3(VPS13C):c.6039-4del
|
|
|
|
NM_020831.6(MRTFA):c.1993GCCCCC[2] (p.665AP[2])
|
rs754085988
|
|
|
NM_020832.3(ZNF687):c.3485G>A (p.Arg1162Gln)
|
|
|
|
NM_020921.4(NIN):c.3611A>G (p.Gln1204Arg)
|
|
|
|
NM_020921.4(NIN):c.447G>A (p.Thr149=)
|
rs547438612
|
|
|
NM_020928.2(ZSWIM6):c.151GCG[4] (p.Ala55_Ala56del)
|
rs779283808
|
|
|
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup)
|
rs779283808
|
|
|
NM_020928.2(ZSWIM6):c.442GGC[8] (p.Gly154dup)
|
rs864309616
|
|
|
NM_020928.2(ZSWIM6):c.522CGC[7] (p.Ala182_Ala184del)
|
|
|
|
NM_020928.2(ZSWIM6):c.522CGC[8] (p.Ala183_Ala184del)
|
|
|
|
NM_020937.4(FANCM):c.1397-15TA[6]
|
rs112326758
|
|
|
NM_020975.6(RET):c.1264-4del
|
|
|
|
NM_020975.6(RET):c.1840GAG[2] (p.Glu616del)
|
rs377767399
|
|
|
NM_021098.3(CACNA1H):c.1535C>T (p.Ala512Val)
|
|
|
|
NM_021098.3(CACNA1H):c.1835A>C (p.Asn612Thr)
|
rs773099504
|
|
|
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
|
|
|
|
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu)
|
rs372759314
|
|
|
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys)
|
rs369474500
|
|
|
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)
|
rs372000875
|
|
|
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His)
|
rs534632699
|
|
|
NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr)
|
rs755717160
|
|
|
NM_021098.3(CACNA1H):c.4408A>G (p.Lys1470Glu)
|
|
|
|
NM_021098.3(CACNA1H):c.5062A>G (p.Ile1688Val)
|
|
|
|
NM_021098.3(CACNA1H):c.5750G>A (p.Arg1917His)
|
|
|
|
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp)
|
rs371550084
|
|
|
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu)
|
rs371550084
|
|
|
NM_021098.3(CACNA1H):c.6290C>A (p.Ala2097Asp)
|
|
|
|
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn)
|
|
|
|
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe)
|
|
|
|
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala)
|
rs765057432
|
|
|
NM_021120.4(DLG3):c.1405+5_1405+7del
|
rs797045525
|
|
|
NM_021628.3(ALOXE3):c.1559_1562+3dup
|
rs552323537
|
|
|
NM_021728.4(OTX2):c.444G>C (p.Pro148=)
|
rs147896150
|
|
|
NM_021814.5(ELOVL5):c.871G>A (p.Val291Met)
|
|
|
|
NM_021922.3(FANCE):c.387A>C (p.Pro129=)
|
rs4713867
|
|
|
NM_021922.3(FANCE):c.855+58A>G
|
rs3800377
|
|
|
NM_021939.4(FKBP10):c.21C>T (p.Pro7=)
|
rs781985978
|
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
|
NM_021942.6(TRAPPC11):c.2628+10del
|
rs150593522
|
|
|
NM_021969.3(NR0B2):c.157_166del (p.His53fs)
|
rs540387719
|
|
|
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val)
|
rs150022595
|
|
|
NM_022124.6(CDH23):c.-197GAGCGGC[5]
|
rs527578984
|
|
|
NM_022124.6(CDH23):c.2290-13del
|
rs397517316
|
|
|
NM_022124.6(CDH23):c.2954-5del
|
rs766850828
|
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
|
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val)
|
rs573057228
|
|
|
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)
|
rs371587906
|
|
|
NM_022336.4(EDAR):c.1024+16del
|
rs3833574
|
|
|
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)
|
rs72542426
|
|
|
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)
|
rs770103215
|
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
|
NM_022437.3(ABCG8):c.1756+16G>A
|
|
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
|
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
|
|
|
|
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del)
|
rs573567814
|
|
|
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)
|
rs377281840
|
|
|
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro)
|
rs368869709
|
|
|
NM_024009.3(GJB3):c.479G>A (p.Arg160His)
|
rs200055020
|
|
|
NM_024101.7(MLPH):c.1142AGG[2] (p.Glu383del)
|
rs528863829
|
|
|
NM_024120.5(NDUFAF5):c.264-3dup
|
rs751750631
|
|
|
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)
|
rs193922706
|
|
|
NM_024334.3(TMEM43):c.706-3del
|
|
|
|
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)
|
rs4021006
|
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
|
NM_024422.6(DSC2):c.370C>T (p.His124Tyr)
|
rs371443698
|
|
|
NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu)
|
rs71622515
|
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
|
NM_024570.4(RNASEH2B):c.925del (p.Ile309fs)
|
rs75254367
|
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[13]
|
rs57301725
|
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[14]
|
rs57301725
|
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
|
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg)
|
rs115033462
|
|
|
NM_024596.5(MCPH1):c.90A>G (p.Thr30=)
|
rs139678787
|
|
|
NM_024597.4(MAP7D3):c.347G>A (p.Arg116Gln)
|
rs62640387
|
|
|
NM_024642.5(GALNT12):c.673A>T (p.Thr225Ser)
|
rs531023279
|
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
|
NM_024666.5(AAGAB):c.100G>A (p.Val34Met)
|
|
|
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
rs515726094
|
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
|
NM_024675.4(PALB2):c.3202-8G>A
|
rs367979106
|
|
|
NM_024675.4(PALB2):c.3202-8G>T
|
rs367979106
|
|
|
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp)
|
rs1300327079
|
|
|
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe)
|
rs866512456
|
|
|
NM_024757.5(EHMT1):c.2159T>G (p.Leu720Trp)
|
|
|
|
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=)
|
rs398124407
|
|
|
NM_024757.5(EHMT1):c.3595A>G (p.Ile1199Val)
|
rs2133152660
|
|
|
NM_024757.5(EHMT1):c.623C>T (p.Pro208Leu)
|
|
|
|
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)
|
rs1342402816
|
|
|
NM_025000.4(DCAF17):c.322-14del
|
rs201494527
|
|
|
NM_025000.4(DCAF17):c.322-15dup
|
rs139655160
|
|
|
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del)
|
rs374626758
|
|
|
NM_025077.4(TOE1):c.492+5G>A
|
rs200132965
|
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
|
NM_025136.4(OPA3):c.*4696ATAA[8]
|
rs58537694
|
|
|
NM_025137.4(SPG11):c.6205+10C>G
|
rs548551204
|
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
|
NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg)
|
|
|
|
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)
|
rs151265913
|
|
|
NM_025235.4(TNKS2):c.1880C>T (p.Thr627Ile)
|
|
|
|
NM_025243.4(SLC19A3):c.*8G>A
|
rs188532608
|
|
|
NM_025243.4(SLC19A3):c.360G>A (p.Glu120=)
|
rs566837952
|
|
|
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)
|
rs146117200
|
|
|
NM_030665.4(RAI1):c.1132A>G (p.Ser378Gly)
|
|
|
|
NM_030665.4(RAI1):c.145G>T (p.Asp49Tyr)
|
|
|
|
NM_030665.4(RAI1):c.1603G>A (p.Ala535Thr)
|
rs754428934
|
|
|
NM_030665.4(RAI1):c.1915C>T (p.Pro639Ser)
|
rs1030615093
|
|
|
NM_030665.4(RAI1):c.194C>T (p.Thr65Met)
|
|
|
|
NM_030665.4(RAI1):c.199T>C (p.Ser67Pro)
|
rs2143001498
|
|
|
NM_030665.4(RAI1):c.2221G>A (p.Ala741Thr)
|
|
|
|
NM_030665.4(RAI1):c.2391C>A (p.Asp797Glu)
|
|
|
|
NM_030665.4(RAI1):c.2659A>G (p.Met887Val)
|
rs794727523
|
|
|
NM_030665.4(RAI1):c.2737G>A (p.Gly913Ser)
|
|
|
|
NM_030665.4(RAI1):c.2951C>A (p.Ala984Glu)
|
rs371644042
|
|
|
NM_030665.4(RAI1):c.3203C>T (p.Thr1068Met)
|
|
|
|
NM_030665.4(RAI1):c.3254G>A (p.Gly1085Glu)
|
rs756454905
|
|
|
NM_030665.4(RAI1):c.3346C>T (p.Pro1116Ser)
|
rs950397097
|
|
|
NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met)
|
|
|
|
NM_030665.4(RAI1):c.3751G>A (p.Ala1251Thr)
|
|
|
|
NM_030665.4(RAI1):c.3941T>C (p.Met1314Thr)
|
|
|
|
NM_030665.4(RAI1):c.4310C>T (p.Pro1437Leu)
|
rs1453585230
|
|
|
NM_030665.4(RAI1):c.4313G>C (p.Gly1438Ala)
|
rs781252626
|
|
|
NM_030665.4(RAI1):c.4384C>G (p.Pro1462Ala)
|
|
|
|
NM_030665.4(RAI1):c.4547G>C (p.Cys1516Ser)
|
|
|
|
NM_030665.4(RAI1):c.4637A>G (p.Lys1546Arg)
|
|
|
|
NM_030665.4(RAI1):c.5006C>T (p.Thr1669Met)
|
|
|
|
NM_030665.4(RAI1):c.76C>T (p.Arg26Cys)
|
rs376964045
|
|
|
NM_030665.4(RAI1):c.834GCA[16] (p.Gln289_Gln291dup)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.98C>T (p.Pro33Leu)
|
rs753461570
|
|
|
NM_030787.4(CFHR5):c.1350G>A (p.Gly450=)
|
rs77159278
|
|
|
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)
|
rs141321678
|
|
|
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)
|
rs565457964
|
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
|
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup)
|
rs36040113
|
|
|
NM_031483.7(ITCH):c.1570-3del
|
rs759646195
|
|
|
NM_031844.2(HNRNPU):c.2166_2167+1delAGG
|
rs575582638
|
|
|
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)
|
rs560910758
|
|
|
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val)
|
rs876658934
|
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.508-8G>A
|
rs202074040
|
|
|
NM_032119.4(ADGRV1):c.11060G>A (p.Arg3687His)
|
|
|
|
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu)
|
rs571603222
|
|
|
NM_032119.4(ADGRV1):c.15737G>A (p.Arg5246Gln)
|
rs772037044
|
|
|
NM_032119.4(ADGRV1):c.16273A>G (p.Asn5425Asp)
|
|
|
|
NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met)
|
rs762746997
|
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
|
NM_032119.4(ADGRV1):c.8730+9_8730+10del
|
rs780180737
|
|
|
NM_032122.5(DTNBP1):c.489-8del
|
rs199770715
|
|
|
NM_032322.4(RNF135):c.124C>T (p.Arg42Cys)
|
|
|
|
NM_032387.5(WNK4):c.3593G>A (p.Arg1198His)
|
|
|
|
NM_032409.3(PINK1):c.827G>A (p.Arg276Gln)
|
rs548506734
|
|
|
NM_032409.3(PINK1):c.88G>C (p.Gly30Arg)
|
rs569753606
|
|
|
NM_032415.7(CARD11):c.1600G>A (p.Ala534Thr)
|
|
|
|
NM_032656.4(DHX37):c.478GAG[11] (p.Glu168_Ser169insGluGlu)
|
|
|
|
NM_033100.4(CDHR1):c.159C>A (p.His53Gln)
|
rs12781048
|
|
|
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr)
|
rs201515900
|
|
|
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile)
|
rs551750608
|
|
|
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)
|
rs762175290
|
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[6]
|
rs113052866
|
|
|
NM_033337.3(CAV3):c.-33G>T
|
rs72546666
|
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
|
NM_033343.4(LHX4):c.724_726del (p.Lys242del)
|
rs771109452
|
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
|
NM_033400.3(ZFHX2):c.4078C>G (p.Gln1360Glu)
|
|
|
|
NM_033551.3(LARP1):c.3278C>T (p.Thr1093Ile)
|
|
|
|
NM_052813.5(CARD9):c.808-9C>A
|
rs200458322
|
|
|
NM_052872.4(IL17F):c.254+1G>A
|
rs117796773
|
|
|
NM_052876.4(NACC1):c.1010G>A (p.Arg337Gln)
|
rs2019706242
|
|
|
NM_052876.4(NACC1):c.979G>C (p.Ala327Pro)
|
rs759246551
|
|
|
NM_052947.4(ALPK2):c.3631G>A (p.Val1211Ile)
|
|
|
|
NM_052947.4(ALPK2):c.86C>T (p.Ala29Val)
|
|
|
|
NM_053025.4(MYLK):c.588+13_588+16del
|
rs570821069
|
|
|
NM_054021.2(GPR101):c.1102G>A (p.Glu368Lys)
|
|
|
|
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)
|
rs758029117
|
|
|
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg)
|
rs867336520
|
|
|
NM_080680.3(COL11A2):c.15C>T (p.Ser5=)
|
|
|
|
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser)
|
rs372806452
|
|
|
NM_080680.3(COL11A2):c.3622C>G (p.Pro1208Ala)
|
rs374515005
|
|
|
NM_080680.3(COL11A2):c.3743C>T (p.Pro1248Leu)
|
|
|
|
NM_080680.3(COL11A2):c.3748C>T (p.Pro1250Ser)
|
|
|
|
NM_080680.3(COL11A2):c.4166C>T (p.Pro1389Leu)
|
|
|
|
NM_080680.3(COL11A2):c.833C>T (p.Pro278Leu)
|
|
|
|
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn)
|
rs369790491
|
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
|
NM_130837.3(OPA1):c.1737G>C (p.Gln579His)
|
rs538099724
|
|
|
NM_130837.3(OPA1):c.1755-6dup
|
rs748933560
|
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
|
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=)
|
rs587782926
|
|
|
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)
|
rs200686732
|
|
|
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])
|
rs397517815
|
|
|
NM_133379.5(TTN):c.15313C>A (p.Arg5105=)
|
rs376396183
|
|
|
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln)
|
rs200219373
|
|
|
NM_133496.5(SLC30A7):c.785G>A (p.Gly262Asp)
|
|
|
|
NM_133642.5(LARGE1):c.2073+12G>A
|
rs377566674
|
|
|
NM_138420.4(AHNAK2):c.14018A>T (p.His4673Leu)
|
|
|
|
NM_138420.4(AHNAK2):c.15286A>G (p.Ser5096Gly)
|
|
|
|
NM_138420.4(AHNAK2):c.3428C>G (p.Ala1143Gly)
|
|
|
|
NM_138420.4(AHNAK2):c.5939A>C (p.Asp1980Ala)
|
|
|
|
NM_138420.4(AHNAK2):c.5940C>G (p.Asp1980Glu)
|
|
|
|
NM_138420.4(AHNAK2):c.8504C>T (p.Ser2835Leu)
|
|
|
|
NM_138576.4(BCL11B):c.1742G>A (p.Gly581Asp)
|
rs775474405
|
|
|
NM_138576.4(BCL11B):c.1901_1906dup (p.Gly634_Asp635dup)
|
rs760277241
|
|
|
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
|
rs573293029
|
|
|
NM_138694.4(PKHD1):c.11507-12del
|
rs771337119
|
|
|
NM_138694.4(PKHD1):c.11507-7G>A
|
rs373438297
|
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
|
NM_138694.4(PKHD1):c.8174-18dup
|
rs566540835
|
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
|
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])
|
rs750165040
|
|
|
NM_139057.4(ADAMTS17):c.*1014_*1019del
|
rs11277519
|
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.441A>G (p.Ala147=)
|
rs797045301
|
|
|
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu)
|
rs137876115
|
|
|
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg)
|
rs370520589
|
|
|
NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln)
|
rs34507711
|
|
|
NM_139343.3(BIN1):c.1132-22TGC[7]
|
rs748026377
|
|
|
NM_144573.4(NEXN):c.*4CT[1]
|
rs553696163
|
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
|
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)
|
rs531550505
|
|
|
NM_144670.6(A2ML1):c.2145del (p.Phe715fs)
|
rs759217676
|
|
|
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs)
|
rs560609581
|
|
|
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg)
|
rs554602951
|
|
|
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=)
|
rs104895570
|
|
|
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)
|
rs201619538
|
|
|
NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro)
|
rs777108086
|
|
|
NM_145200.5(CABP4):c.541+7_541+8delinsGC
|
rs34039523
|
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
|
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)
|
rs10578999
|
|
|
NM_152263.4(TPM3):c.243+11GA[2]
|
rs146969764
|
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
|
NM_152305.3(POGLUT1):c.1022+5G>A
|
|
|
|
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val)
|
rs540563766
|
|
|
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
|
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)
|
rs549810522
|
|
|
NM_152594.3(SPRED1):c.*578AT[13]
|
rs147547509
|
|
|
NM_152709.5(STOX1):c.2945C>T (p.Pro982Leu)
|
|
|
|
NM_152722.5(HEPACAM):c.115C>T (p.Pro39Ser)
|
|
|
|
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=)
|
rs375565047
|
|
|
NM_152906.7(TANGO2):c.56+122_56+131del
|
rs545147497
|
|
|
NM_153026.3(PRICKLE1):c.1639+3A>G
|
rs550752320
|
|
|
NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)
|
|
|
|
NM_153427.2(PITX2):c.-1532C>A
|
rs117231596
|
|
|
NM_153427.2(PITX2):c.-429C>G
|
rs985015612
|
|
|
NM_170606.3(KMT2C):c.12806T>C (p.Met4269Thr)
|
|
|
|
NM_170606.3(KMT2C):c.1735+2dup
|
rs1554579961
|
|
|
NM_170606.3(KMT2C):c.4507+5A>G
|
rs2129129571
|
|
|
NM_170606.3(KMT2C):c.7388G>A (p.Arg2463His)
|
|
|
|
NM_170606.3(KMT2C):c.8879C>T (p.Pro2960Leu)
|
|
|
|
NM_170606.3(KMT2C):c.9109_9111del (p.Leu3037del)
|
rs772433974
|
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
|
NM_170707.4(LMNA):c.937-8C>G
|
rs751707982
|
|
|
NM_170754.4(TNS2):c.4070A>T (p.Asn1357Ile)
|
|
|
|
NM_172362.3(KCNH1):c.1066G>A (p.Val356Ile)
|
rs754172417
|
|
|
NM_172362.3(KCNH1):c.2486G>A (p.Gly829Asp)
|
rs759201321
|
|
|
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser)
|
rs371262198
|
|
|
NM_172362.3(KCNH1):c.656C>T (p.Thr219Met)
|
|
|
|
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=)
|
rs201783863
|
|
|
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
|
|
|
|
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)
|
rs544952984
|
|
|
NM_173651.4(FSIP2):c.4459A>G (p.Ile1487Val)
|
|
|
|
NM_173660.5(DOK7):c.161G>A (p.Arg54His)
|
rs201818140
|
|
|
NM_173842.3(IL1RN):c.318+12C>G
|
rs561872655
|
|
|
NM_174878.3(CLRN1):c.*265AT[5]
|
rs550716419
|
|
|
NM_174878.3(CLRN1):c.*277GT[12]
|
rs34027634
|
|
|
NM_174878.3(CLRN1):c.*277GT[15]
|
rs34027634
|
|
|
NM_174934.4(SCN4B):c.112G>C (p.Ala38Pro)
|
rs777894412
|
|
|
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
|
|
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
|
NM_174936.4(PCSK9):c.1504-5_1504-4del
|
rs755817854
|
|
|
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
|
|
|
|
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
|
|
|
|
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)
|
rs569379713
|
|
|
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
|
|
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
|
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
|
|
|
|
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)
|
rs35574083
|
|
|
NM_174936.4(PCSK9):c.522C>T (p.Pro174=)
|
rs373018373
|
|
|
NM_175914.5(HNF4A):c.*2600T>C
|
rs886056689
|
|
|
NM_175914.5(HNF4A):c.*2796AC[1]
|
rs548863430
|
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
|
NM_175914.5(HNF4A):c.50-4791_50-4788del
|
rs886056679
|
|
|
NM_177438.3(DICER1):c.2040+54dup
|
rs141723381
|
|
|
NM_177438.3(DICER1):c.4206+7_4206+8dup
|
rs1555368535
|
|
|
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del)
|
rs544960260
|
|
|
NM_177986.5(DSG4):c.2295_2296insTCAGGGGCCGCAAGGAAGAGGAGCTCTACCATGGGAGCC (p.Thr765_Leu766insSerGlyAlaAlaArgLysArgSerSerThrMetGlyAla)
|
rs577438163
|
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs1585963467
|
|
|
NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)
|
|
|
|
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val)
|
rs201534650
|
|
|
NM_181674.3(PPP2R2B):c.75-562AGC[4]
|
rs10591869
|
|
|
NM_181675.3(PPP2R2B):c.27[15] (p.Ser10[15])
|
rs10591869
|
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
|
NM_182641.4(BPTF):c.2882T>A (p.Ile961Lys)
|
|
|
|
NM_182641.4(BPTF):c.3905G>A (p.Ser1302Asn)
|
|
|
|
NM_182641.4(BPTF):c.5884A>G (p.Thr1962Ala)
|
|
|
|
NM_182641.4(BPTF):c.8102C>T (p.Thr2701Met)
|
|
|
|
NM_182758.4(WDR72):c.3149-30CT[10]
|
rs57737580
|
|
|
NM_182758.4(WDR72):c.3149-30CT[14]
|
rs57737580
|
|
|
NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His)
|
rs200946949
|
|
|
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)
|
rs182079744
|
|
|
NM_182931.3(KMT2E):c.1270G>A (p.Gly424Arg)
|
|
|
|
NM_182931.3(KMT2E):c.2888G>A (p.Arg963His)
|
|
|
|
NM_182931.3(KMT2E):c.4040C>G (p.Thr1347Ser)
|
|
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
|
NM_183357.3(ADCY5):c.471G>T (p.Glu157Asp)
|
|
|
|
NM_183357.3(ADCY5):c.77C>T (p.Pro26Leu)
|
rs752897516
|
|
|
NM_183381.3(RNF13):c.427A>G (p.Ile143Val)
|
|
|
|
NM_194248.3(OTOF):c.1803+7dup
|
rs755835793
|
|
|
NM_194248.3(OTOF):c.2287G>A (p.Val763Ile)
|
rs138545671
|
|
|
NM_194248.3(OTOF):c.32C>T (p.Ser11Leu)
|
rs200972155
|
|
|
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser)
|
rs62640381
|
|
|
NM_198252.3(GSN):c.-9-2091_-9-2064del
|
rs764841269
|
|
|
NM_198334.3(GANAB):c.367C>G (p.Pro123Ala)
|
|
|
|
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del)
|
rs145776307
|
|
|
NM_198525.3(KIF7):c.1221C>T (p.Ala407=)
|
rs886051535
|
|
|
NM_198525.3(KIF7):c.2592+11C>T
|
rs78199895
|
|
|
NM_198525.3(KIF7):c.2719-28CCCT[8]
|
rs3840030
|
|
|
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)
|
rs33949390
|
|
|
NM_198578.4(LRRK2):c.6281-3dup
|
rs780258764
|
|
|
NM_198999.3(SLC26A5):c.571-12dup
|
rs753273893
|
|
|
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=)
|
rs568125844
|
|
|
NM_199242.3(UNC13D):c.1728-13C>T
|
rs745855631
|
|
|
NM_199420.4(POLQ):c.3388A>T (p.Asn1130Tyr)
|
|
|
|
NM_201384.3(PLEC):c.2304+9dup
|
rs35671527
|
|
|
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)
|
rs376112916
|
|
|
NM_201525.4(ADGRG1):c.843_844delinsGC (p.Ser281_Gly282delinsArgArg)
|
rs1057517931
|
|
|
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp)
|
rs727503857
|
|
|
NM_201596.3(CACNB2):c.1206+4_1206+7dup
|
rs1456201116
|
|
|
NM_205768.3(ZBTB18):c.1080G>A (p.Met360Ile)
|
|
|
|
NM_206933.4(USH2A):c.3317-14del
|
rs376363548
|
|
|
NM_206933.4(USH2A):c.5026G>A (p.Val1676Ile)
|
rs768619553
|
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
|
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)
|
rs11570255
|
|
|
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
|
rs753542290
|
|
|
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
|
|
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly)
|
rs1555644694
|
|
|
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=)
|
rs374270799
|
|
|
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup)
|
rs570476408
|
|
|
NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser)
|
rs143576067
|
|
|
NM_207361.6(FREM2):c.7520-10_7520-9insCT
|
rs1399473815
|
|
|
NM_212482.4(FN1):c.6853+12C>G
|
rs111303746
|
|
|
NM_213599.3(ANO5):c.*112_*113del
|
rs5790246
|
|
|
NM_213599.3(ANO5):c.295-8dup
|
rs778435515
|
|
|
Single allele
|
|
|
|
UGT1A1*28
|
rs3064744
|
|
|
UGT1A1*37
|
rs3064744
|
|