NM_000065.5(C6):c.1881C>T (p.Asp627=)
|
rs6866352
|
0.99985
|
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly)
|
rs1466731
|
0.99604
|
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=)
|
rs2955379
|
0.99481
|
NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr)
|
rs6503640
|
0.99456
|
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=)
|
rs5348
|
0.98435
|
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly)
|
rs1529927
|
0.97710
|
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val)
|
rs6416668
|
0.96848
|
NM_194318.4(B3GLCT):c.348T>C (p.His116=)
|
rs4943266
|
0.96681
|
NM_016180.5(SLC45A2):c.987A>G (p.Thr329=)
|
rs2287949
|
0.95123
|
NM_001360.3(DHCR7):c.438T>C (p.Asn146=)
|
rs949177
|
0.90629
|
NM_000540.3(RYR1):c.1077T>C (p.Ala359=)
|
rs10406027
|
0.90489
|
NM_000507.4(FBP1):c.960A>G (p.Gly320=)
|
rs1769257
|
0.88821
|
NM_002150.3(HPD):c.97A>G (p.Thr33Ala)
|
rs1154510
|
0.88222
|
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr)
|
rs217086
|
0.87257
|
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala)
|
rs10103355
|
0.87079
|
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=)
|
rs7118824
|
0.84187
|
NM_000518.5(HBB):c.9T>C (p.His3=)
|
rs713040
|
0.82706
|
NM_130797.4(DPP6):c.723A>G (p.Lys241=)
|
rs3807218
|
0.82535
|
NM_000535.7(PMS2):c.780C>G (p.Ser260=)
|
rs1805319
|
0.82058
|
NM_006005.3(WFS1):c.997G>A (p.Val333Ile)
|
rs1801212
|
0.80149
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)
|
rs906807
|
0.78836
|
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu)
|
rs1799983
|
0.76319
|
NM_000465.4(BARD1):c.1518T>C (p.His506=)
|
rs2070093
|
0.74904
|
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)
|
rs4986765
|
0.74166
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_000642.3(AGL):c.959-18G>A
|
rs634880
|
0.73702
|
NM_020041.3(SLC2A9):c.375G>A (p.Thr125=)
|
rs10939650
|
0.72256
|
NM_000486.6(AQP2):c.501T>C (p.Ser167=)
|
rs426496
|
0.70780
|
NM_018062.4(FANCL):c.981T>C (p.Ser327=)
|
rs848291
|
0.69782
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe)
|
rs16891982
|
0.67617
|
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)
|
rs3184504
|
0.66794
|
NM_000540.3(RYR1):c.1668G>A (p.Ser556=)
|
rs2288888
|
0.64200
|
NM_000540.3(RYR1):c.2286C>T (p.Pro762=)
|
rs3745847
|
0.62871
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_000744.7(CHRNA4):c.*534C>T
|
rs2236196
|
0.62296
|
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)
|
rs4986763
|
0.60694
|
NM_000540.3(RYR1):c.2943G>A (p.Thr981=)
|
rs2228069
|
0.60233
|
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)
|
rs1800470
|
0.60129
|
NM_024496.4(IRF2BPL):c.348G>A (p.Gln116=)
|
rs28692724
|
0.59653
|
NM_000017.4(ACADS):c.990C>T (p.Arg330=)
|
rs3915
|
0.59445
|
NM_000038.6(APC):c.4479G>A (p.Thr1493=)
|
rs41115
|
0.59177
|
NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=)
|
rs4820268
|
0.59140
|
NM_000526.5(KRT14):c.193C>T (p.Leu65=)
|
rs3826551
|
0.58145
|
NM_000526.5(KRT14):c.189C>T (p.Cys63=)
|
rs11551758
|
0.56357
|
NM_000526.5(KRT14):c.369T>C (p.Asn123=)
|
rs3826549
|
0.56333
|
NM_001365276.2(TNXB):c.*163G>A
|
rs1058152
|
0.54891
|
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser)
|
rs2229571
|
0.53291
|
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)
|
rs9381994
|
0.52715
|
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)
|
rs7190823
|
0.52564
|
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=)
|
rs1133683
|
0.52439
|
NM_014336.5(AIPL1):c.277-10A>C
|
rs12453262
|
0.52383
|
NM_000017.4(ACADS):c.321T>C (p.Arg107=)
|
rs3914
|
0.51709
|
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
NM_000260.4(MYO7A):c.783T>C (p.Gly261=)
|
rs762667
|
0.50077
|
NM_000275.3(OCA2):c.2328T>C (p.Ala776=)
|
rs1800419
|
0.47440
|
NM_000038.6(APC):c.1458T>C (p.Tyr486=)
|
rs2229992
|
0.46792
|
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=)
|
rs2228556
|
0.46753
|
NM_000511.6(FUT2):c.461G>A (p.Trp154Ter)
|
rs601338
|
0.45281
|
NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala)
|
rs2272662
|
0.43646
|
NM_006261.5(PROP1):c.27T>C (p.Ala9=)
|
rs1135320
|
0.40746
|
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs)
|
rs770089708
|
0.39537
|
NM_004393.6(DAG1):c.*250T>C
|
rs1050088
|
0.39364
|
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)
|
rs4539
|
0.38300
|
NM_000506.5(F2):c.1726-59G>A
|
rs3136516
|
0.38221
|
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)
|
rs6546839
|
0.38002
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
NM_000287.4(PEX6):c.883-3T>C
|
rs9986447
|
0.36088
|
NM_015311.3(OBSL1):c.580C>T (p.Leu194=)
|
rs1061399
|
0.35689
|
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)
|
rs1056827
|
0.35167
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu)
|
rs7220988
|
0.34127
|
NM_000274.4(OAT):c.1134C>T (p.Asn378=)
|
rs11461
|
0.33660
|
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys)
|
rs10037067
|
0.33642
|
NM_000311.5(PRNP):c.385A>G (p.Met129Val)
|
rs1799990
|
0.33516
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)
|
rs688
|
0.33392
|
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_005581.5(BCAM):c.1615A>G (p.Thr539Ala)
|
rs1135062
|
0.32876
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)
|
rs4916685
|
0.32486
|
NM_000179.3(MSH6):c.3438+14A>T
|
rs2020911
|
0.32279
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu)
|
rs2301612
|
0.31482
|
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=)
|
rs16876822
|
0.31193
|
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser)
|
rs2366926
|
0.31179
|
NM_032119.4(ADGRV1):c.6952-10G>A
|
rs10040165
|
0.31172
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_000581.4(GPX1):c.599C>T (p.Pro200Leu)
|
rs1050450
|
0.30347
|
NM_001171.6(ABCC6):c.1245G>A (p.Val415=)
|
rs9940825
|
0.30255
|
NM_012186.3(FOXE3):c.510C>T (p.Ala170=)
|
rs34082359
|
0.30139
|
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)
|
rs16869042
|
0.30112
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_020041.3(SLC2A9):c.844G>A (p.Val282Ile)
|
rs16890979
|
0.28912
|
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)
|
rs4792311
|
0.27559
|
NM_006659.4(TUBGCP2):c.1214+12C>T
|
rs72864793
|
0.27173
|
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr)
|
rs11564148
|
0.26687
|
NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=)
|
rs10878405
|
0.26650
|
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=)
|
rs1055432
|
0.26164
|
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)
|
rs1057091
|
0.26146
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg)
|
rs1137100
|
0.25399
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_000179.3(MSH6):c.540T>C (p.Asp180=)
|
rs1800935
|
0.23857
|
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=)
|
rs7921598
|
0.23801
|
NM_002281.4(KRT81):c.735+4C>T
|
rs12812669
|
0.23428
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_000277.3(PAH):c.353-22C>T
|
rs2037639
|
0.23047
|
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
NM_000424.4(KRT5):c.594C>A (p.Thr198=)
|
rs641621
|
0.22738
|
NM_004999.4(MYO6):c.2658+17C>T
|
rs2295936
|
0.22603
|
NM_000170.3(GLDC):c.501G>A (p.Glu167=)
|
rs35374927
|
0.22564
|
NM_000320.2(QDPR):c.-81delC
|
rs67496406
|
0.22322
|
NM_000249.3(MLH1):c.-93G>A
|
rs1800734
|
0.22121
|
NM_057175.5(NAA15):c.1753+12del
|
rs3217605
|
0.21617
|
NM_198253.3(TERT):c.915G>A (p.Ala305=)
|
rs2736098
|
0.21206
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile)
|
rs6897932
|
0.21045
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_000059.4(BRCA2):c.-26G>A
|
rs1799943
|
0.20795
|
NM_014697.3(NOS1AP):c.1002C>T (p.Arg334=)
|
rs348624
|
0.20782
|
NM_000270.4(PNP):c.151G>A (p.Gly51Ser)
|
rs1049564
|
0.20682
|
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr)
|
rs1805123
|
0.20300
|
NM_000099.4(CST3):c.73G>A (p.Ala25Thr)
|
rs1064039
|
0.20062
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_014336.5(AIPL1):c.268G>C (p.Asp90His)
|
rs12449580
|
0.19586
|
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)
|
rs1953337
|
0.19198
|
NM_003784.4(SERPINB7):c.797G>A (p.Arg266Gln)
|
rs17782413
|
0.19172
|
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu)
|
rs5763269
|
0.19153
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=)
|
rs9924755
|
0.17690
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val)
|
rs2269529
|
0.17342
|
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=)
|
rs1469698
|
0.17268
|
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu)
|
rs2296212
|
0.17040
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.16737
|
NM_000073.3(CD3G):c.390T>C (p.Ala130=)
|
rs3753059
|
0.16289
|
NM_000073.3(CD3G):c.391G>T (p.Val131Phe)
|
rs3753058
|
0.16277
|
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)
|
rs11558492
|
0.15938
|
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=)
|
rs17554631
|
0.15645
|
NM_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_000175.5(GPI):c.489A>G (p.Gly163=)
|
rs1801015
|
0.14862
|
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)
|
rs1065489
|
0.14779
|
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)
|
rs3729830
|
0.14676
|
NM_001377265.1(MAPT):c.220+2535A>G
|
rs1800547
|
0.14618
|
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)
|
rs1566734
|
0.14574
|
NM_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
NM_001063.4(TF):c.1765C>T (p.Pro589Ser)
|
rs1049296
|
0.13332
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_004999.4(MYO6):c.553+11T>C
|
rs12210963
|
0.13246
|
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)
|
rs61748200
|
0.13068
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
NM_000278.5(PAX2):c.798C>T (p.Asn266=)
|
rs1800897
|
0.12916
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
NM_001710.5(CFB):c.95G>A (p.Arg32Gln)
|
rs641153
|
0.11820
|
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)
|
rs709932
|
0.11804
|
NM_002335.4(LRP5):c.1015+15C>T
|
rs201268200
|
0.11677
|
NM_014000.3(VCL):c.*1854A>C
|
rs3829204
|
0.11656
|
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=)
|
rs13158963
|
0.11513
|
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu)
|
rs8177374
|
0.10979
|
NM_153717.3(EVC):c.802-15del
|
rs369153323
|
0.10885
|
NM_002834.3(PTPN11):c.-273G>A
|
rs58805176
|
0.10884
|
NM_005502.4(ABCA1):c.814-14dup
|
rs2067484
|
0.10846
|
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)
|
rs45603036
|
0.10742
|
NM_002024.6(FMR1):c.414G>A (p.Arg138=)
|
rs25707
|
0.10515
|
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)
|
rs35769976
|
0.10508
|
NM_000113.3(TOR1A):c.646G>C (p.Asp216His)
|
rs1801968
|
0.10301
|
NM_004183.4(BEST1):c.219C>A (p.Ile73=)
|
rs1109748
|
0.10271
|
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)
|
rs7308720
|
0.10004
|
NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)
|
rs35441642
|
0.09351
|
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val)
|
rs3746802
|
0.09243
|
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=)
|
rs7966550
|
0.08994
|
NM_018684.4(ZC4H2):c.432A>G (p.Thr144=)
|
rs6524946
|
0.08938
|
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)
|
rs328
|
0.08934
|
NM_018979.4(WNK1):c.759+16_759+18dup
|
rs398088143
|
0.08796
|
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln)
|
rs885479
|
0.08396
|
NM_000251.3(MSH2):c.2006-6T>C
|
rs2303428
|
0.08349
|
NM_000214.3(JAG1):c.267G>A (p.Gly89=)
|
rs1051415
|
0.08298
|
NM_000168.6(GLI3):c.900C>T (p.Ser300=)
|
rs35961850
|
0.07677
|
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)
|
rs61749698
|
0.07665
|
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)
|
rs1800401
|
0.07659
|
NM_000179.3(MSH6):c.642C>T (p.Tyr214=)
|
rs1800937
|
0.07457
|
NM_000132.4(F8):c.6769A>G (p.Met2257Val)
|
rs1800297
|
0.07378
|
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=)
|
rs41300169
|
0.06912
|
NM_032119.4(ADGRV1):c.8730+10_8730+11insC
|
rs377585302
|
0.06843
|
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)
|
rs72657698
|
0.06836
|
NM_004004.6(GJB2):c.*111C>T
|
rs7329857
|
0.06802
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06691
|
NM_213599.3(ANO5):c.879-18T>C
|
rs7104758
|
0.06440
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln)
|
rs2229446
|
0.06069
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=)
|
rs11175964
|
0.05959
|
NM_000135.4(FANCA):c.3067-4T>C
|
rs17227064
|
0.05860
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)
|
rs17543819
|
0.05741
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_000095.3(COMP):c.1755G>A (p.Thr585=)
|
rs34467947
|
0.04927
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
NM_019109.5(ALG1):c.840G>C (p.Leu280=)
|
rs12921879
|
0.04852
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_000891.3(KCNJ2):c.*2752T>C
|
rs993085233
|
0.04719
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_000891.3(KCNJ2):c.*2758T>C
|
rs1324652195
|
0.04554
|
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)
|
rs77792891
|
0.04524
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)
|
rs2287779
|
0.04224
|
NM_000022.2(ADA):c.22G>A (p.Asp8Asn)
|
rs73598374
|
0.04175
|
NM_000324.3(RHAG):c.808G>A (p.Val270Ile)
|
rs16879498
|
0.04007
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465
|
0.03966
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_000552.5(VWF):c.3795G>A (p.Pro1265=)
|
rs2228319
|
0.03767
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=)
|
rs529326848
|
0.03671
|
NM_000552.5(VWF):c.2451T>A (p.His817Gln)
|
rs57950734
|
0.03591
|
NM_032578.4(MYPN):c.843A>G (p.Pro281=)
|
rs74143022
|
0.03534
|
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)
|
rs1669445
|
0.03530
|
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
|
rs34598902
|
0.03505
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)
|
rs35948326
|
0.03419
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr)
|
rs45598239
|
0.03352
|
NM_017570.5(OPLAH):c.3721-20del
|
rs148937107
|
0.03336
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03314
|
NM_005045.4(RELN):c.5351+3A>G
|
rs6967725
|
0.03307
|
NM_000540.3(RYR1):c.9555-13C>T
|
rs2960328
|
0.03214
|
NM_198239.2(CCN6):c.178C>T (p.Arg60Cys)
|
rs17073260
|
0.03059
|
NM_002109.6(HARS1):c.951+19G>A
|
rs73271581
|
0.03048
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03031
|
NM_000719.7(CACNA1C):c.372-15G>A
|
rs55792866
|
0.02977
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)
|
rs2228063
|
0.02817
|
NM_000155.4(GALT):c.876G>A (p.Thr292=)
|
rs1055607
|
0.02790
|
NM_001205293.3(CACNA1E):c.3263-15G>A
|
rs11808627
|
0.02783
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)
|
rs29281
|
0.02758
|
NM_001148.6(ANK2):c.384+19C>T
|
rs45502093
|
0.02751
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_005413.4(SIX3):c.576C>T (p.Arg192=)
|
rs182881
|
0.02708
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_001111125.3(IQSEC2):c.2297+14G>A
|
rs17002631
|
0.02684
|
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)
|
rs3212723
|
0.02676
|
NM_004525.3(LRP2):c.12151+4T>C
|
rs17848192
|
0.02665
|
NM_004618.5(TOP3A):c.315-4C>G
|
rs7217776
|
0.02640
|
NM_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.02616
|
NM_000554.6(CRX):c.472G>A (p.Ala158Thr)
|
rs61748445
|
0.02598
|
NM_005235.3(ERBB4):c.2202+15A>G
|
rs77836647
|
0.02566
|
NM_000153.4(GALC):c.397T>C (p.Leu133=)
|
rs56194647
|
0.02565
|
NM_017672.6(TRPM7):c.1131+3A>G
|
rs79443717
|
0.02557
|
NM_024334.3(TMEM43):c.163-14C>T
|
rs113745859
|
0.02553
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_016341.4(PLCE1):c.3132C>T (p.His1044=)
|
rs61732522
|
0.02481
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_000540.3(RYR1):c.1577-6C>G
|
rs61586345
|
0.02394
|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
NM_001358530.2(MOCS1):c.645+9G>C
|
rs73732319
|
0.02256
|
NM_000337.6(SGCD):c.*7596A>G
|
rs80115276
|
0.02244
|
NM_025136.4(OPA3):c.-38A>G
|
rs45527139
|
0.02241
|
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)
|
rs111033430
|
0.02235
|
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)
|
rs76708142
|
0.02223
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_003114.5(SPAG1):c.1536-9C>G
|
rs112884253
|
0.02211
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_006662.3(SRCAP):c.306+4C>T
|
rs58723456
|
0.02136
|
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)
|
rs2228456
|
0.02135
|
NM_001034853.2(RPGR):c.552G>T (p.Gln184His)
|
rs5963403
|
0.02128
|
NM_178857.6(RP1L1):c.844A>C (p.Asn282His)
|
rs75814156
|
0.02124
|
NM_130797.4(DPP6):c.813G>A (p.Gln271=)
|
rs61736427
|
0.02116
|
NM_133433.4(NIPBL):c.4421+7A>G
|
rs76297333
|
0.02109
|
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050
|
0.02098
|
NM_003690.5(PRKRA):c.609+20A>G
|
rs73973115
|
0.02096
|
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)
|
rs2230179
|
0.02069
|
NM_005215.4(DCC):c.91+7G>A
|
rs112558388
|
0.02064
|
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys)
|
rs61737525
|
0.02034
|
NM_000528.4(MAN2B1):c.2267+3G>C
|
rs28639634
|
0.02031
|
NM_000071.3(CBS):c.316+130G>A
|
rs73372393
|
0.02025
|
NM_152743.4(BRAT1):c.924-14G>A
|
rs113638677
|
0.02010
|
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln)
|
rs79401306
|
0.02007
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
NM_000078.3(CETP):c.-65G>A
|
rs17231520
|
0.01971
|
NM_003640.5(ELP1):c.959-15C>T
|
rs112114410
|
0.01906
|
NM_006445.4(PRPF8):c.1290-10A>G
|
rs73291009
|
0.01904
|
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=)
|
rs115435816
|
0.01890
|
NM_006445.4(PRPF8):c.2873-13T>C
|
rs57276551
|
0.01890
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=)
|
rs4018162
|
0.01868
|
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)
|
rs61751557
|
0.01860
|
NM_005901.6(SMAD2):c.828G>A (p.Ser276=)
|
rs1051066
|
0.01853
|
NM_000243.3(MEFV):c.-614C>G
|
rs11466012
|
0.01850
|
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)
|
rs61234887
|
0.01841
|
NM_000095.3(COMP):c.511G>A (p.Ala171Thr)
|
rs115338183
|
0.01840
|
NM_001267550.2(TTN):c.49648+16T>C
|
rs57677875
|
0.01831
|
NM_000100.4(CSTB):c.15G>T (p.Ala5=)
|
rs4533
|
0.01826
|
NM_006017.3(PROM1):c.631-14T>C
|
rs16892824
|
0.01810
|
NM_021831.6(AGBL5):c.2046T>A (p.Ser682=)
|
rs34931609
|
0.01806
|
NM_001113378.2(FANCI):c.3651+19G>A
|
rs73472624
|
0.01789
|
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)
|
rs8069375
|
0.01781
|
NM_020436.5(SALL4):c.2130G>A (p.Thr710=)
|
rs61737143
|
0.01764
|
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)
|
rs2229970
|
0.01759
|
NM_018979.4(WNK1):c.3490-5T>A
|
rs72650719
|
0.01759
|
NM_017636.4(TRPM4):c.3641-19C>G
|
rs7256050
|
0.01753
|
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)
|
rs61340537
|
0.01730
|
NM_003476.5(CSRP3):c.312C>G (p.Thr104=)
|
rs45582433
|
0.01721
|
NM_012418.4(FSCN2):c.381G>A (p.Pro127=)
|
rs34454351
|
0.01717
|
NM_182643.3(DLC1):c.1530G>A (p.Ala510=)
|
rs1127606
|
0.01715
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=)
|
rs111305262
|
0.01710
|
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser)
|
rs72470544
|
0.01709
|
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser)
|
rs61740776
|
0.01706
|
NM_000188.3(HK1):c.1031+6T>C
|
rs57012387
|
0.01704
|
NM_004183.4(BEST1):c.618G>A (p.Leu206=)
|
rs62641693
|
0.01704
|
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=)
|
rs28730770
|
0.01687
|
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)
|
rs6889939
|
0.01679
|
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=)
|
rs33942096
|
0.01677
|
NM_021252.5(RAB18):c.260-7dup
|
rs142609338
|
0.01674
|
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01671
|
NM_001750.7(CAST):c.1207G>C (p.Ala403Pro)
|
rs76738700
|
0.01666
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=)
|
rs61734621
|
0.01658
|
NM_018668.5(VPS33B):c.597C>T (p.Cys199=)
|
rs60198611
|
0.01658
|
NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr)
|
rs34728563
|
0.01649
|
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)
|
rs73688160
|
0.01649
|
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=)
|
rs2228599
|
0.01648
|
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His)
|
rs62618730
|
0.01621
|
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)
|
rs61739354
|
0.01613
|
NM_001199799.2(ILDR1):c.1162T>C (p.Trp388Arg)
|
rs35661993
|
0.01612
|
NM_000360.4(TH):c.1035G>T (p.Ala345=)
|
rs11826260
|
0.01611
|
NM_001365276.2(TNXB):c.11387-9T>C
|
rs2894233
|
0.01611
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_001370259.2(MEN1):c.*302C>T
|
rs1804849
|
0.01607
|
NM_004715.5(CTDP1):c.492+7C>T
|
rs115851227
|
0.01593
|
NM_000069.3(CACNA1S):c.3525+18C>T
|
rs56021911
|
0.01583
|
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=)
|
rs58703366
|
0.01571
|
NM_012318.3(LETM1):c.326A>G (p.His109Arg)
|
rs62623389
|
0.01570
|
NM_005751.5(AKAP9):c.2782T>C (p.Leu928=)
|
rs34370932
|
0.01563
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr)
|
rs59780231
|
0.01556
|
NM_001854.4(COL11A1):c.651+16A>G
|
rs116303092
|
0.01555
|
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=)
|
rs115481622
|
0.01551
|
NM_030962.4(SBF2):c.513+17G>C
|
rs73410819
|
0.01551
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His)
|
rs10406745
|
0.01547
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_002585.4(PBX1):c.701+13T>G
|
rs74118205
|
0.01519
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=)
|
rs79597785
|
0.01517
|
NM_000078.3(CETP):c.66C>A (p.Thr22=)
|
rs5884
|
0.01514
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg)
|
rs34956633
|
0.01509
|
NM_000718.4(CACNA1B):c.5649+9C>A
|
rs58892401
|
0.01502
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_001105206.3(LAMA4):c.531C>T (p.Pro177=)
|
rs61742228
|
0.01462
|
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=)
|
rs34154455
|
0.01460
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_001013703.4(EIF2AK4):c.4562-12T>G
|
rs7165452
|
0.01444
|
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)
|
rs35242963
|
0.01438
|
NM_006593.4(TBR1):c.1134A>G (p.Thr378=)
|
rs79294493
|
0.01425
|
NM_004519.4(KCNQ3):c.1700+3G>A
|
rs115092422
|
0.01419
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
NM_012469.4(PRPF6):c.120A>G (p.Ala40=)
|
rs34062309
|
0.01415
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_000894.3(LHB):c.233C>A (p.Thr78Asn)
|
rs116437960
|
0.01395
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_001854.4(COL11A1):c.2611-4C>T
|
rs79505593
|
0.01381
|
NM_198578.4(LRRK2):c.3778-9C>T
|
rs114948984
|
0.01375
|
NM_003590.5(CUL3):c.2052C>T (p.Ser684=)
|
rs61743301
|
0.01372
|
NM_018192.4(P3H2):c.972A>G (p.Lys324=)
|
rs34558237
|
0.01372
|
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn)
|
rs73467962
|
0.01369
|
NM_003052.5(SLC34A1):c.389-5C>T
|
rs189794265
|
0.01364
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met)
|
rs9913621
|
0.01361
|
NM_022042.4(SLC26A1):c.513C>T (p.Cys171=)
|
rs114936403
|
0.01361
|
NM_016247.4(IMPG2):c.828+17_828+18insC
|
rs199824990
|
0.01356
|
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)
|
rs34297061
|
0.01346
|
NM_000301.5(PLG):c.1380T>A (p.Ser460Arg)
|
rs116573785
|
0.01344
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
NM_004589.4(SCO1):c.297A>G (p.Ala99=)
|
rs11538237
|
0.01326
|
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=)
|
rs113284476
|
0.01323
|
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu)
|
rs150552608
|
0.01319
|
NM_002299.4(LCT):c.454G>A (p.Ala152Thr)
|
rs114525655
|
0.01314
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01311
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_004998.4(MYO1E):c.511-19A>T
|
rs2306782
|
0.01292
|
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile)
|
rs62619924
|
0.01285
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_000168.6(GLI3):c.1029-7C>T
|
rs78280303
|
0.01279
|
NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly)
|
rs61995915
|
0.01278
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
NM_000312.4(PROC):c.1107G>A (p.Pro369=)
|
rs61731660
|
0.01266
|
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=)
|
rs34376836
|
0.01265
|
NM_000271.5(NPC1):c.2103C>T (p.Asn701=)
|
rs7227375
|
0.01251
|
NM_000303.3(PMM2):c.324G>A (p.Ala108=)
|
rs62031146
|
0.01239
|
NM_018993.4(RIN2):c.85G>A (p.Gly29Arg)
|
rs78648341
|
0.01238
|
NM_001063.4(TF):c.887A>G (p.Asp296Gly)
|
rs8177238
|
0.01230
|
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=)
|
rs34418677
|
0.01229
|
NM_000312.4(PROC):c.400+13G>A
|
rs116738363
|
0.01228
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01228
|
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys)
|
rs115477764
|
0.01222
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_004082.5(DCTN1):c.34-11G>T
|
rs73948789
|
0.01216
|
NM_181776.3(SLC36A2):c.1044C>T (p.Ala348=)
|
rs34910192
|
0.01216
|
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp)
|
rs13043752
|
0.01213
|
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=)
|
rs58812334
|
0.01201
|
NM_206933.4(USH2A):c.5572+15G>A
|
rs17026052
|
0.01200
|
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=)
|
rs2229973
|
0.01198
|
NM_006949.4(STXBP2):c.795-4C>T
|
rs151257815
|
0.01197
|
NM_022489.4(INF2):c.42G>A (p.Leu14=)
|
rs62638758
|
0.01192
|
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=)
|
rs16846517
|
0.01187
|
NM_022489.4(INF2):c.3153C>T (p.Asp1051=)
|
rs117457867
|
0.01185
|
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr)
|
rs41313691
|
0.01184
|
NM_032409.3(PINK1):c.1173T>C (p.Asp391=)
|
rs45499398
|
0.01177
|
NM_015158.5(KANK1):c.624C>G (p.Ala208=)
|
rs116178720
|
0.01172
|
NM_032607.3(CREB3L3):c.1245G>A (p.Thr415=)
|
rs115268777
|
0.01163
|
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=)
|
rs33973317
|
0.01145
|
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=)
|
rs104895569
|
0.01141
|
NM_001105206.3(LAMA4):c.4287+15C>T
|
rs116361180
|
0.01137
|
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=)
|
rs61745103
|
0.01137
|
NM_001711.6(BGN):c.257A>G (p.Lys86Arg)
|
rs146073993
|
0.01131
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala)
|
rs35154632
|
0.01104
|
NM_001349206.2(LPIN1):c.597-18T>A
|
rs75093910
|
0.01098
|
NM_018685.5(ANLN):c.1686G>A (p.Ser562=)
|
rs34371129
|
0.01094
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
NM_001376256.1(CRYM):c.741C>T (p.Tyr247=)
|
rs34045013
|
0.01064
|
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=)
|
rs73970129
|
0.01063
|
NM_004366.6(CLCN2):c.2271+8T>G
|
rs114350071
|
0.01055
|
NM_002471.4(MYH6):c.2946G>A (p.Glu982=)
|
rs145274612
|
0.01048
|
NM_001256317.3(TMPRSS3):c.952+17A>G
|
rs115489719
|
0.01047
|
NM_000428.3(LTBP2):c.4888+18G>A
|
rs73296217
|
0.01044
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_001134707.2(SARDH):c.473A>G (p.Asn158Ser)
|
rs146886270
|
0.01035
|
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile)
|
rs35530544
|
0.01031
|
NM_203395.3(IYD):c.323A>G (p.Asn108Ser)
|
rs111758467
|
0.01029
|
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=)
|
rs61744966
|
0.01027
|
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)
|
rs41317925
|
0.01027
|
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)
|
rs62636220
|
0.01025
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_212482.4(FN1):c.1425G>C (p.Gly475=)
|
rs59884263
|
0.01019
|
NM_014491.4(FOXP2):c.570A>G (p.Gln190=)
|
rs61758964
|
0.01012
|
NM_021023.6(CFHR3):c.720G>C (p.Gln240His)
|
rs149347641
|
0.01005
|
NM_000249.4(MLH1):c.588+11G>C
|
rs4647258
|
0.00993
|
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser)
|
rs117444825
|
0.00990
|
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)
|
rs11568528
|
0.00987
|
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=)
|
rs13306619
|
0.00986
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
|
rs142735148
|
0.00983
|
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu)
|
rs76491994
|
0.00978
|
NM_000278.5(PAX2):c.792+9G>A
|
rs79552202
|
0.00974
|
NM_001330691.3(CEP78):c.955G>C (p.Glu319Gln)
|
rs61730338
|
0.00964
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)
|
rs74518295
|
0.00953
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00950
|
NM_004998.4(MYO1E):c.2130G>A (p.Val710=)
|
rs114132435
|
0.00944
|
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His)
|
rs34879202
|
0.00942
|
NM_002661.5(PLCG2):c.3482-3C>T
|
rs74856898
|
0.00935
|
NM_000122.2(ERCC3):c.-98A>G
|
rs4150398
|
0.00933
|
NM_001130438.3(SPTAN1):c.2194-13T>G
|
rs28676915
|
0.00932
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
|
rs28763967
|
0.00925
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)
|
rs180849348
|
0.00918
|
NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln)
|
rs79884502
|
0.00917
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_000214.3(JAG1):c.2227+17C>T
|
rs115449289
|
0.00903
|
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)
|
rs57451017
|
0.00901
|
NM_032578.4(MYPN):c.-2+9C>T
|
rs75716608
|
0.00900
|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
NM_001163435.3(TBCK):c.1898-20G>T
|
rs45462491
|
0.00895
|
NM_002693.3(POLG):c.1586-5del
|
rs2307434
|
0.00891
|
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser)
|
rs4537
|
0.00890
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000020.3(ACVRL1):c.*1041G>T
|
rs199949661
|
0.00887
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)
|
rs138183109
|
0.00874
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_022042.4(SLC26A1):c.171G>A (p.Thr57=)
|
rs35019459
|
0.00865
|
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser)
|
rs11498198
|
0.00864
|
NM_012262.4(HS2ST1):c.364-8C>T
|
rs191652191
|
0.00861
|
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)
|
rs11574889
|
0.00854
|
NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln)
|
rs2230768
|
0.00849
|
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)
|
rs75937132
|
0.00847
|
NM_006005.3(WFS1):c.930A>G (p.Ala310=)
|
rs115561278
|
0.00845
|
NM_001458.5(FLNC):c.2390-14C>T
|
rs71581921
|
0.00843
|
NM_017909.4(RMND1):c.783C>T (p.Ile261=)
|
rs17081207
|
0.00841
|
NM_004333.6(BRAF):c.1315-18T>G
|
rs6959000
|
0.00840
|
NM_000051.4(ATM):c.2922-21T>G
|
rs149096247
|
0.00835
|
NM_144670.6(A2ML1):c.3108-3dup
|
rs142794811
|
0.00828
|
NM_000093.5(COL5A1):c.5136+152C>T
|
rs113504942
|
0.00827
|
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=)
|
rs11543345
|
0.00816
|
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)
|
rs139017763
|
0.00815
|
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=)
|
rs16992990
|
0.00815
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_004560.4(ROR2):c.471G>A (p.Thr157=)
|
rs78781083
|
0.00812
|
NM_005184.4(CALM3):c.390C>T (p.Asp130=)
|
rs35617141
|
0.00806
|
NM_152383.5(DIS3L2):c.1448G>A (p.Arg483Gln)
|
rs148474013
|
0.00804
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu)
|
rs75107667
|
0.00802
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu)
|
rs59357922
|
0.00793
|
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)
|
rs80039127
|
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_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp)
|
rs41264871
|
0.00788
|
NM_000257.4(MYH7):c.4520-25C>T
|
rs45503601
|
0.00787
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00784
|
NM_023110.3(FGFR1):c.600C>T (p.Asp200=)
|
rs17175898
|
0.00782
|
NM_006922.4(SCN3A):c.4432-14T>C
|
rs73969177
|
0.00780
|
NM_001372.4(DNAH9):c.6259A>G (p.Met2087Val)
|
rs9892290
|
0.00777
|
NM_177438.3(DICER1):c.2370G>A (p.Arg790=)
|
rs112712209
|
0.00777
|
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=)
|
rs34705415
|
0.00775
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00774
|
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)
|
rs52820871
|
0.00774
|
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
NM_000540.3(RYR1):c.906C>T (p.Asp302=)
|
rs145943283
|
0.00765
|
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu)
|
rs181520135
|
0.00757
|
NM_000186.4(CFH):c.1159+19T>G
|
rs35695425
|
0.00756
|
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val)
|
rs3729952
|
0.00756
|
NM_054027.6(ANKH):c.688-14G>A
|
rs187770990
|
0.00755
|
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr)
|
rs41278954
|
0.00753
|
NM_002335.4(LRP5):c.687-17C>T
|
rs186410639
|
0.00751
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_001256071.3(RNF213):c.14194A>G (p.Lys4732Glu)
|
rs12944385
|
0.00750
|
NM_018979.4(WNK1):c.684C>T (p.Gly228=)
|
rs72647374
|
0.00748
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
NM_053025.4(MYLK):c.383C>T (p.Ala128Val)
|
rs143896146
|
0.00747
|
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys)
|
rs76022961
|
0.00741
|
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=)
|
rs61733281
|
0.00738
|
NM_000334.4(SCN4A):c.3441+7G>A
|
rs142270113
|
0.00738
|
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)
|
rs61732664
|
0.00738
|
NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe)
|
rs113259170
|
0.00738
|
NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly)
|
rs34593559
|
0.00737
|
NM_021926.4(ALX4):c.63C>T (p.Tyr21=)
|
rs61737298
|
0.00736
|
NM_033022.4(RPS24):c.177A>G (p.Gly59=)
|
rs6496
|
0.00736
|
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln)
|
rs78351282
|
0.00735
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=)
|
rs111638554
|
0.00728
|
NM_182476.3(COQ6):c.1184C>T (p.Thr395Met)
|
rs34746680
|
0.00726
|
NM_004525.3(LRP2):c.13545G>A (p.Gly4515=)
|
rs34029982
|
0.00725
|
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly)
|
rs111695726
|
0.00720
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00719
|
NM_001080512.3(BICC1):c.846T>C (p.Ala282=)
|
rs145237525
|
0.00717
|
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)
|
rs74632023
|
0.00712
|
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)
|
rs56341011
|
0.00711
|
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=)
|
rs113595214
|
0.00709
|
NM_000038.6(APC):c.4326T>A (p.Pro1442=)
|
rs67622085
|
0.00705
|
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)
|
rs34884895
|
0.00701
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_004795.4(KL):c.87C>T (p.Arg29=)
|
rs528826951
|
0.00696
|
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)
|
rs16962093
|
0.00694
|
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp)
|
rs117498128
|
0.00693
|
NM_001369268.1(ACAN):c.1476C>G (p.Thr492=)
|
rs139042772
|
0.00687
|
NM_000789.4(ACE):c.656-9C>T
|
rs12720734
|
0.00679
|
NM_003597.5(KLF11):c.429C>T (p.Ala143=)
|
rs113903638
|
0.00679
|
NM_000219.6(KCNE1):c.84G>A (p.Ser28=)
|
rs17173510
|
0.00676
|
NM_000512.5(GALNS):c.1003-42C>T
|
rs139088253
|
0.00674
|
NM_139319.3(SLC17A8):c.355-4C>A
|
rs11568531
|
0.00670
|
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)
|
rs200121704
|
0.00665
|
NM_030787.4(CFHR5):c.429T>C (p.Thr143=)
|
rs140215003
|
0.00665
|
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)
|
rs62637630
|
0.00663
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)
|
rs35924492
|
0.00660
|
NM_000064.4(C3):c.1976-19C>T
|
rs11569433
|
0.00656
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro)
|
rs34417028
|
0.00652
|
NM_000090.4(COL3A1):c.1816-19T>C
|
rs114299724
|
0.00647
|
NM_000286.3(PEX12):c.867C>T (p.Asp289=)
|
rs138720627
|
0.00647
|
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)
|
rs142030651
|
0.00646
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_001282933.2(ZNF341):c.366G>A (p.Pro122=)
|
rs75946243
|
0.00643
|
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=)
|
rs1805095
|
0.00643
|
NM_020632.3(ATP6V0A4):c.816+19C>T
|
rs80076422
|
0.00643
|
NM_206933.4(USH2A):c.848+5G>C
|
rs74329863
|
0.00641
|
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=)
|
rs185755490
|
0.00640
|
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=)
|
rs3819970
|
0.00634
|
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)
|
rs146072491
|
0.00628
|
NM_000553.6(WRN):c.1953C>T (p.Gly651=)
|
rs11574263
|
0.00627
|
NM_138711.6(PPARG):c.1281A>G (p.Ser427=)
|
rs41516544
|
0.00627
|
NM_004006.3(DMD):c.7476T>C (p.Val2492=)
|
rs142153424
|
0.00626
|
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=)
|
rs114810692
|
0.00625
|
NM_001204.7(BMPR2):c.-669G>A
|
rs115604088
|
0.00624
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly)
|
rs34982958
|
0.00620
|
NM_181882.3(PRX):c.4044G>C (p.Gly1348=)
|
rs76088917
|
0.00620
|
NM_002863.5(PYGL):c.1093-6C>A
|
rs147211684
|
0.00613
|
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=)
|
rs181646656
|
0.00612
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=)
|
rs58615599
|
0.00607
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_012301.4(MAGI2):c.276C>G (p.Pro92=)
|
rs146012909
|
0.00597
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile)
|
rs17207902
|
0.00594
|
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)
|
rs74484860
|
0.00593
|
NM_024422.6(DSC2):c.1719C>T (p.Asn573=)
|
rs140167653
|
0.00590
|
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=)
|
rs112581362
|
0.00587
|
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=)
|
rs186848048
|
0.00581
|
NM_000210.4(ITGA6):c.986+14A>C
|
rs138182078
|
0.00578
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=)
|
rs149563706
|
0.00576
|
NM_001395656.1(ROBO2):c.1861+8C>G
|
rs144780438
|
0.00575
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=)
|
rs141467675
|
0.00575
|
NM_001144967.3(NEDD4L):c.2753-4C>T
|
rs116251315
|
0.00571
|
NM_012330.4(KAT6B):c.929-12A>G
|
rs190502446
|
0.00571
|
NM_145038.5(DRC1):c.1067C>T (p.Ala356Val)
|
rs78892546
|
0.00566
|
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys)
|
rs34076967
|
0.00563
|
NM_022370.4(ROBO3):c.1189C>A (p.Pro397Thr)
|
rs114572753
|
0.00563
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
NM_014244.5(ADAMTS2):c.1629+9G>A
|
rs115550684
|
0.00560
|
NM_021098.3(CACNA1H):c.5324-4G>A
|
rs57687113
|
0.00558
|
NM_002336.3(LRP6):c.2382C>T (p.Asn794=)
|
rs74774620
|
0.00556
|
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln)
|
rs118086587
|
0.00554
|
NM_002336.3(LRP6):c.3192A>G (p.Val1064=)
|
rs114714311
|
0.00552
|
NM_181882.3(PRX):c.1281C>T (p.Ile427=)
|
rs76960467
|
0.00551
|
NM_018417.6(ADCY10):c.4075C>T (p.Leu1359=)
|
rs73039538
|
0.00545
|
NM_022489.4(INF2):c.879G>A (p.Ser293=)
|
rs184709736
|
0.00543
|
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys)
|
rs35564486
|
0.00541
|
NM_001292063.2(OTOG):c.385+7C>T
|
rs139222878
|
0.00540
|
NM_002485.5(NBN):c.37+11A>G
|
rs115032431
|
0.00540
|
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His)
|
rs35338364
|
0.00539
|
NM_001148.6(ANK2):c.2278-11G>A
|
rs146312675
|
0.00538
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
NM_198075.4(LRRC56):c.35G>A (p.Arg12Gln)
|
rs2277269
|
0.00533
|
NM_021926.4(ALX4):c.69G>C (p.Pro23=)
|
rs115968657
|
0.00532
|
NM_002863.5(PYGL):c.2112T>C (p.Ala704=)
|
rs35110875
|
0.00531
|
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454
|
0.00531
|
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly)
|
rs111292798
|
0.00526
|
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln)
|
rs35507033
|
0.00526
|
NM_004074.3(COX8A):c.111C>A (p.Ile37=)
|
rs61759492
|
0.00525
|
NM_000168.6(GLI3):c.2802G>A (p.Ala934=)
|
rs61730503
|
0.00520
|
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=)
|
rs141218982
|
0.00519
|
NM_212482.4(FN1):c.199C>A (p.Arg67=)
|
rs112643151
|
0.00519
|
NM_015690.5(STK36):c.3540C>T (p.Ala1180=)
|
rs2241528
|
0.00518
|
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=)
|
rs61750975
|
0.00517
|
NM_014314.4(RIGI):c.1737C>T (p.Phe579=)
|
rs116612738
|
0.00517
|
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr)
|
rs73201156
|
0.00515
|
NM_000540.3(RYR1):c.10938-17A>G
|
rs181147531
|
0.00513
|
NM_000093.5(COL5A1):c.5137-11T>C
|
rs183495554
|
0.00512
|
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)
|
rs144634185
|
0.00512
|
NM_004408.4(DNM1):c.46C>A (p.Leu16Met)
|
rs61757224
|
0.00511
|
NM_000210.4(ITGA6):c.*58T>C
|
rs150113724
|
0.00509
|
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=)
|
rs57112868
|
0.00508
|
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=)
|
rs60720455
|
0.00507
|
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg)
|
rs587784500
|
0.00507
|
NM_001081.4(CUBN):c.4696-16G>T
|
rs140260072
|
0.00504
|
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)
|
rs41316003
|
0.00500
|
NM_001046.3(SLC12A2):c.524G>C (p.Gly175Ala)
|
rs149585221
|
0.00499
|
NM_004646.4(NPHS1):c.1440+19C>T
|
rs113470432
|
0.00498
|
NM_004924.6(ACTN4):c.1611G>A (p.Ala537=)
|
rs150183570
|
0.00498
|
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)
|
rs138642043
|
0.00495
|
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile)
|
rs76033442
|
0.00489
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
NM_005472.5(KCNE3):c.-244G>A
|
rs114110954
|
0.00488
|
NM_005472.5(KCNE3):c.-245A>G
|
rs115848768
|
0.00488
|
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=)
|
rs58764017
|
0.00488
|
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=)
|
rs28730671
|
0.00483
|
NM_017491.5(WDR1):c.743A>G (p.His248Arg)
|
rs41268387
|
0.00483
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)
|
rs145806603
|
0.00479
|
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=)
|
rs116130182
|
0.00478
|
NM_022455.5(NSD1):c.1792T>C (p.Leu598=)
|
rs28932176
|
0.00477
|
NM_000860.6(HPGD):c.634G>A (p.Asp212Asn)
|
rs148874494
|
0.00475
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_000451.4(SHOX):c.63C>T (p.Gly21=)
|
rs142306835
|
0.00472
|
NM_019109.5(ALG1):c.1080G>A (p.Ala360=)
|
rs143939207
|
0.00467
|
NM_014000.3(VCL):c.1557C>A (p.Ile519=)
|
rs150120464
|
0.00466
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr)
|
rs74348333
|
0.00465
|
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile)
|
rs146467786
|
0.00465
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_033028.5(BBS4):c.1106+20T>C
|
rs145968663
|
0.00461
|
NM_004525.3(LRP2):c.79+7G>A
|
rs376136995
|
0.00460
|
NM_000540.3(RYR1):c.11034+20G>T
|
rs186460831
|
0.00456
|
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met)
|
rs138652708
|
0.00454
|
NM_022455.5(NSD1):c.2169C>T (p.Thr723=)
|
rs11948062
|
0.00453
|
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)
|
rs7052858
|
0.00452
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_001376571.1(MADD):c.1330A>G (p.Asn444Asp)
|
rs61751747
|
0.00444
|
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)
|
rs116703544
|
0.00442
|
NM_052989.3(IFT122):c.2349C>A (p.Ile783=)
|
rs114357746
|
0.00442
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro)
|
rs17175350
|
0.00438
|
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)
|
rs145756111
|
0.00437
|
NM_173560.4(RFX6):c.2398+17G>T
|
rs142448060
|
0.00437
|
NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser)
|
rs150136669
|
0.00436
|
NM_005506.4(SCARB2):c.1239+14C>T
|
rs143699909
|
0.00432
|
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=)
|
rs114745823
|
0.00429
|
NM_021098.3(CACNA1H):c.1479T>C (p.Ser493=)
|
rs60415676
|
0.00425
|
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly)
|
rs148656796
|
0.00425
|
NM_000257.4(MYH7):c.3972+16G>A
|
rs114978322
|
0.00424
|
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly)
|
rs145463534
|
0.00423
|
NM_017570.5(OPLAH):c.402G>A (p.Leu134=)
|
rs200748510
|
0.00423
|
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr)
|
rs147688306
|
0.00422
|
NM_173689.7(CRB2):c.2748C>T (p.Ala916=)
|
rs372726074
|
0.00422
|
NM_004795.4(KL):c.91C>T (p.Leu31=)
|
rs540806300
|
0.00421
|
NM_030761.5(WNT4):c.483C>T (p.Tyr161=)
|
rs149600184
|
0.00421
|
NM_003098.3(SNTA1):c.701+10G>A
|
rs6057846
|
0.00419
|
NM_001009944.3(PKD1):c.7065+21G>A
|
rs9930234
|
0.00418
|
NM_021098.3(CACNA1H):c.4038+12C>T
|
rs370831984
|
0.00414
|
NM_201596.3(CACNB2):c.214-61251C>A
|
rs117558767
|
0.00414
|
NM_018979.4(WNK1):c.2052A>G (p.Ala684=)
|
rs72648690
|
0.00413
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=)
|
rs34245589
|
0.00406
|
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg)
|
rs146704802
|
0.00404
|
NM_000064.4(C3):c.1119+15G>A
|
rs114252882
|
0.00399
|
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)
|
rs121434437
|
0.00398
|
NM_001754.5(RUNX1):c.351+15A>G
|
rs199881885
|
0.00396
|
NM_001040716.2(PC):c.85G>A (p.Val29Ile)
|
rs45471099
|
0.00394
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_004369.4(COL6A3):c.4285+17G>A
|
rs3791000
|
0.00392
|
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=)
|
rs147336902
|
0.00391
|
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)
|
rs149101394
|
0.00391
|
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=)
|
rs142049079
|
0.00390
|
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)
|
rs141101590
|
0.00388
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala)
|
rs141544058
|
0.00387
|
NM_002473.6(MYH9):c.2229+13G>T
|
rs139146113
|
0.00377
|
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=)
|
rs183012002
|
0.00375
|
NM_000071.3(CBS):c.1039+19C>T
|
rs182908734
|
0.00373
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
NM_001680.5(FXYD2):c.195G>A (p.Glu65=)
|
rs144519777
|
0.00367
|
NM_002458.3(MUC5B):c.16859C>T (p.Ala5620Val)
|
rs113495521
|
0.00367
|
NM_000130.5(F5):c.2129A>G (p.His710Arg)
|
rs115954845
|
0.00366
|
NM_000901.5(NR3C2):c.1791A>G (p.Ser597=)
|
rs34905604
|
0.00366
|
NM_000338.3(SLC12A1):c.1300+12G>A
|
rs147511178
|
0.00364
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=)
|
rs78795495
|
0.00357
|
NM_004562.3(PRKN):c.714C>T (p.Cys238=)
|
rs114974496
|
0.00357
|
NM_015335.5(MED13L):c.2239-16T>C
|
rs147314859
|
0.00355
|
NM_001009944.3(PKD1):c.276G>A (p.Ala92=)
|
rs374518168
|
0.00354
|
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)
|
rs115631125
|
0.00354
|
NM_003647.3(DGKE):c.1440T>C (p.Val480=)
|
rs2230873
|
0.00354
|
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser)
|
rs559756386
|
0.00354
|
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)
|
rs77211159
|
0.00354
|
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=)
|
rs16903511
|
0.00353
|
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)
|
rs16903514
|
0.00352
|
NM_004366.6(CLCN2):c.2415+9A>G
|
rs192449317
|
0.00351
|
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)
|
rs61731155
|
0.00349
|
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=)
|
rs34772799
|
0.00346
|
NM_000892.5(KLKB1):c.808A>G (p.Thr270Ala)
|
rs113884104
|
0.00344
|
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=)
|
rs79143968
|
0.00344
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
NM_174934.4(SCN4B):c.639C>T (p.Asn213=)
|
rs72544155
|
0.00341
|
NM_001148.6(ANK2):c.2970A>C (p.Arg990=)
|
rs35956627
|
0.00336
|
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=)
|
rs142355575
|
0.00335
|
NM_052989.3(IFT122):c.1908T>C (p.Ile636=)
|
rs139722192
|
0.00334
|
NM_138295.5(PKD1L1):c.2599C>T (p.Leu867=)
|
rs150638179
|
0.00332
|
NM_000213.5(ITGB4):c.4417C>T (p.Leu1473=)
|
rs138478973
|
0.00331
|
NM_000975.5(RPL11):c.158-18G>C
|
rs115017937
|
0.00330
|
NM_005515.4(MNX1):c.234G>A (p.Pro78=)
|
rs867731047
|
0.00330
|
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)
|
rs77351928
|
0.00330
|
NM_000514.4(GDNF):c.540A>G (p.Arg180=)
|
rs112417561
|
0.00329
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
NM_001099922.3(ALG13):c.2248-4A>G
|
rs370438099
|
0.00325
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)
|
rs61754023
|
0.00324
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_138295.5(PKD1L1):c.2220C>T (p.Leu740=)
|
rs143353908
|
0.00316
|
NM_000875.5(IGF1R):c.225C>T (p.Phe75=)
|
rs55770488
|
0.00312
|
NM_017947.4(MOCOS):c.142+20T>C
|
rs373431975
|
0.00309
|
NM_022454.4(SOX17):c.1206C>G (p.Ala402=)
|
rs147091895
|
0.00307
|
NM_020041.3(SLC2A9):c.123T>C (p.Ser41=)
|
rs112581525
|
0.00304
|
NM_001039570.3(KREMEN1):c.1242G>A (p.Arg414=)
|
rs16987147
|
0.00303
|
NM_032575.3(GLIS2):c.775+20C>T
|
rs116598071
|
0.00297
|
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=)
|
rs114854941
|
0.00296
|
NM_212482.4(FN1):c.4146A>G (p.Pro1382=)
|
rs114987066
|
0.00296
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)
|
rs202076833
|
0.00295
|
NM_007078.3(LDB3):c.163G>A (p.Val55Ile)
|
rs3740343
|
0.00292
|
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)
|
rs35180584
|
0.00291
|
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=)
|
rs113299143
|
0.00291
|
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=)
|
rs142111310
|
0.00290
|
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)
|
rs61995713
|
0.00290
|
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val)
|
rs373038988
|
0.00288
|
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)
|
rs2228563
|
0.00287
|
NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln)
|
rs450046
|
0.00287
|
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)
|
rs35623035
|
0.00285
|
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
|
rs146923532
|
0.00285
|
NM_005045.4(RELN):c.416C>G (p.Thr139Ser)
|
rs79471015
|
0.00283
|
NM_003041.4(SLC5A2):c.1665+13G>A
|
rs185753774
|
0.00282
|
NM_000217.3(KCNA1):c.237G>A (p.Glu79=)
|
rs149110871
|
0.00280
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_001364171.2(ODAD1):c.266G>C (p.Arg89Pro)
|
rs58966182
|
0.00277
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
NM_020223.4(FAM20C):c.1740C>T (p.Ala580=)
|
rs563226142
|
0.00273
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00272
|
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)
|
rs113347629
|
0.00269
|
NM_000168.6(GLI3):c.2373G>A (p.Pro791=)
|
rs61754622
|
0.00267
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_006440.5(TXNRD2):c.816C>T (p.Gly272=)
|
rs144584524
|
0.00266
|
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile)
|
rs28943592
|
0.00265
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
NM_000064.4(C3):c.4878T>C (p.Thr1626=)
|
rs1803223
|
0.00261
|
NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser)
|
rs45577437
|
0.00260
|
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=)
|
rs61746518
|
0.00255
|
NM_000345.4(SNCA):c.408C>T (p.Tyr136=)
|
rs76642636
|
0.00252
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
NM_024529.5(CDC73):c.308-16C>A
|
rs201766013
|
0.00252
|
NM_145038.5(DRC1):c.2166+16_2166+17insA
|
rs546596010
|
0.00252
|
NM_182643.3(DLC1):c.2199C>T (p.Ser733=)
|
rs34941980
|
0.00252
|
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro)
|
rs3750819
|
0.00250
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
NM_000301.5(PLG):c.1431C>T (p.Ser477=)
|
rs4699
|
0.00248
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
NM_006514.4(SCN10A):c.3229-20C>T
|
rs73825880
|
0.00248
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00247
|
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)
|
rs368002375
|
0.00247
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=)
|
rs370919547
|
0.00243
|
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=)
|
rs2066525
|
0.00241
|
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=)
|
rs140707871
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_021871.4(FGA):c.181-14C>T
|
rs190703077
|
0.00240
|
NM_021871.4(FGA):c.300G>A (p.Lys100=)
|
rs112877216
|
0.00240
|
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=)
|
rs74162089
|
0.00240
|
NM_001277115.2(DNAH11):c.4282A>G (p.Thr1428Ala)
|
rs72657315
|
0.00235
|
NM_017565.4(FAM20A):c.444C>T (p.Ser148=)
|
rs139743735
|
0.00235
|
NM_000441.2(SLC26A4):c.1545-5T>G
|
rs77944876
|
0.00234
|
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)
|
rs34664134
|
0.00233
|
NM_002334.4(LRP4):c.1191T>C (p.Asn397=)
|
rs73458078
|
0.00233
|
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)
|
rs142528559
|
0.00233
|
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)
|
rs143106228
|
0.00232
|
NM_005188.4(CBL):c.869+19A>G
|
rs181589369
|
0.00232
|
NM_000475.5(NR0B1):c.588G>A (p.Leu196=)
|
rs138855021
|
0.00231
|
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala)
|
rs72657320
|
0.00229
|
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=)
|
rs61736186
|
0.00229
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
NM_001145809.2(MYH14):c.1329+15C>T
|
rs200176028
|
0.00227
|
NM_022089.4(ATP13A2):c.1195+9C>T
|
rs117758987
|
0.00227
|
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)
|
rs41261344
|
0.00222
|
NM_014795.4(ZEB2):c.2887-4G>A
|
rs147972125
|
0.00222
|
NM_001379610.1(SPINK1):c.88-23A>T
|
rs199929811
|
0.00219
|
NM_001365276.2(TNXB):c.909C>G (p.Gly303=)
|
rs111244635
|
0.00214
|
NM_004646.4(NPHS1):c.59-19C>A
|
rs115350784
|
0.00214
|
NM_022489.4(INF2):c.2138+9G>A
|
rs201065953
|
0.00213
|
NM_025074.7(FRAS1):c.4969+9A>C
|
rs147019759
|
0.00213
|
NM_001374385.1(ATP8B1):c.3016-19A>G
|
rs139202277
|
0.00210
|
NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp)
|
rs199587983
|
0.00209
|
NM_000352.6(ABCC8):c.2391-17G>T
|
rs201484528
|
0.00206
|
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met)
|
rs144900277
|
0.00206
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
NM_001370595.2(COA8):c.476+19C>T
|
rs182242924
|
0.00201
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
NM_001009944.3(PKD1):c.837G>A (p.Gly279=)
|
rs372124319
|
0.00199
|
NM_000214.3(JAG1):c.1007-16A>G
|
rs201709907
|
0.00198
|
NM_000258.3(MYL3):c.130-14G>T
|
rs192329378
|
0.00198
|
NM_012448.4(STAT5B):c.375+17G>A
|
rs148509105
|
0.00198
|
NM_015443.4(KANSL1):c.3091-18C>G
|
rs186216018
|
0.00195
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=)
|
rs144145420
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_000168.6(GLI3):c.444C>T (p.Tyr148=)
|
rs142241970
|
0.00191
|
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser)
|
rs77618751
|
0.00188
|
NM_000379.4(XDH):c.1427+15C>A
|
rs116569100
|
0.00186
|
NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=)
|
rs140511721
|
0.00185
|
NM_001963.6(EGF):c.2491+20C>A
|
rs11569030
|
0.00183
|
NM_000213.5(ITGB4):c.5218+12T>C
|
rs55696316
|
0.00182
|
NM_018076.5(ODAD2):c.2982C>T (p.Ala994=)
|
rs148295264
|
0.00181
|
NM_000301.5(PLG):c.1803-17C>A
|
rs201530084
|
0.00180
|
NM_032607.3(CREB3L3):c.891-14C>T
|
rs192623406
|
0.00180
|
NM_001999.4(FBN2):c.5353+19C>T
|
rs183524866
|
0.00179
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)
|
rs114259687
|
0.00177
|
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=)
|
rs142496099
|
0.00176
|
NM_032607.3(CREB3L3):c.313G>A (p.Gly105Arg)
|
rs77002741
|
0.00176
|
NM_002471.4(MYH6):c.2293-12C>G
|
rs115453571
|
0.00175
|
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=)
|
rs148891711
|
0.00173
|
NM_032340.4(UQCC2):c.225C>A (p.Pro75=)
|
rs114881155
|
0.00173
|
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=)
|
rs17058435
|
0.00172
|
NM_000475.5(NR0B1):c.870C>T (p.Cys290=)
|
rs137987391
|
0.00168
|
NM_001206927.2(DNAH8):c.11776T>C (p.Leu3926=)
|
rs148084212
|
0.00168
|
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=)
|
rs61746542
|
0.00167
|
NM_213655.5(WNK1):c.2659T>C (p.Leu887=)
|
rs72649855
|
0.00167
|
NM_000110.4(DPYD):c.1525-11G>A
|
rs55699321
|
0.00166
|
NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg)
|
rs201638755
|
0.00166
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_013352.4(DSE):c.216G>A (p.Thr72=)
|
rs61747210
|
0.00164
|
NM_015443.4(KANSL1):c.297A>G (p.Gln99=)
|
rs34801822
|
0.00164
|
NM_006208.3(ENPP1):c.313+11_313+15del
|
rs771304080
|
0.00163
|
NM_020638.3(FGF23):c.211+19T>C
|
rs141828684
|
0.00162
|
NM_030943.4(AMN):c.1137G>T (p.Ala379=)
|
rs533317064
|
0.00159
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
0.00158
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
NM_000246.4(CIITA):c.358+11G>A
|
rs118033640
|
0.00155
|
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=)
|
rs146115458
|
0.00154
|
NM_021167.5(GATAD1):c.762G>A (p.Gly254=)
|
rs139637606
|
0.00151
|
NM_000533.5(PLP1):c.168A>G (p.Gln56=)
|
rs2233697
|
0.00150
|
NM_000718.4(CACNA1B):c.6072G>A (p.Thr2024=)
|
rs201904272
|
0.00150
|
NM_001101.5(ACTB):c.168C>T (p.Asp56=)
|
rs13447398
|
0.00150
|
NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu)
|
rs148092370
|
0.00150
|
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=)
|
rs72552033
|
0.00150
|
NM_000363.5(TNNI3):c.109-17C>A
|
rs139150276
|
0.00147
|
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=)
|
rs61757665
|
0.00146
|
NM_032436.4(CHAMP1):c.951T>C (p.Pro317=)
|
rs144765511
|
0.00146
|
NM_001101.5(ACTB):c.420A>G (p.Leu140=)
|
rs13447405
|
0.00145
|
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys)
|
rs139767460
|
0.00144
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser)
|
rs374668457
|
0.00140
|
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)
|
rs76249490
|
0.00140
|
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=)
|
rs146382764
|
0.00139
|
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)
|
rs142401936
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_006580.4(CLDN16):c.532T>C (p.Leu178=)
|
rs143316426
|
0.00135
|
NM_022455.5(NSD1):c.2835T>C (p.Ser945=)
|
rs145987330
|
0.00133
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
0.00129
|
NM_001312909.2(FAM111A):c.1758G>A (p.Lys586=)
|
rs144353692
|
0.00128
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_020436.5(SALL4):c.1557C>T (p.Pro519=)
|
rs75554760
|
0.00124
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_144670.6(A2ML1):c.2463+13G>C
|
rs151032368
|
0.00123
|
NM_004387.4(NKX2-5):c.335-162G>A
|
rs200039950
|
0.00121
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_004525.3(LRP2):c.9033-9A>G
|
rs143892351
|
0.00119
|
NM_000162.5(GCK):c.364-18A>G
|
rs191255582
|
0.00118
|
NM_004064.5(CDKN1B):c.-126C>T
|
rs549943001
|
0.00118
|
NM_002473.6(MYH9):c.2913G>A (p.Ala971=)
|
rs200763055
|
0.00116
|
NM_004380.3(CREBBP):c.1574-12C>T
|
rs185243405
|
0.00116
|
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)
|
rs144832179
|
0.00116
|
NM_004924.6(ACTN4):c.738C>T (p.Ile246=)
|
rs34491236
|
0.00115
|
NM_014669.5(NUP93):c.180-11T>A
|
rs138944474
|
0.00114
|
NM_033022.4(RPS24):c.363A>G (p.Ala121=)
|
rs139181869
|
0.00114
|
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)
|
rs147927593
|
0.00113
|
NM_001843.4(CNTN1):c.2980+19A>T
|
rs181426756
|
0.00112
|
NM_138295.5(PKD1L1):c.3624A>G (p.Ala1208=)
|
rs139854035
|
0.00110
|
NM_003052.5(SLC34A1):c.260-4C>A
|
rs200580283
|
0.00109
|
NM_004208.4(AIFM1):c.606-15C>T
|
rs191297808
|
0.00109
|
NM_004525.3(LRP2):c.5395-12C>G
|
rs141206999
|
0.00108
|
NM_012096.3(APPL1):c.219T>C (p.Phe73=)
|
rs150282222
|
0.00108
|
NM_001069.3(TUBB2A):c.553G>A (p.Ala185Thr)
|
rs76334433
|
0.00105
|
NM_001102564.3(IFT43):c.54+15G>T
|
rs372505367
|
0.00105
|
NM_001845.6(COL4A1):c.3506-7C>G
|
rs377592935
|
0.00105
|
NM_000503.6(EYA1):c.1141-15T>G
|
rs186249248
|
0.00103
|
NM_000478.6(ALPL):c.1482C>T (p.Leu494=)
|
rs142545037
|
0.00102
|
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)
|
rs3749383
|
0.00102
|
NM_004560.4(ROR2):c.937+16C>T
|
rs112054737
|
0.00101
|
NM_001144967.3(NEDD4L):c.2542C>T (p.Leu848=)
|
rs370069597
|
0.00099
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_000069.3(CACNA1S):c.5370+10G>A
|
rs368138384
|
0.00096
|
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn)
|
rs142402214
|
0.00096
|
NM_017415.3(KLHL3):c.838C>T (p.Leu280=)
|
rs138650966
|
0.00095
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_030665.4(RAI1):c.840_843del (p.Gln280fs)
|
rs775735568
|
0.00094
|
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=)
|
rs117063418
|
0.00093
|
NM_007214.5(SEC63):c.1278C>T (p.Phe426=)
|
rs146559698
|
0.00093
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
NM_000719.7(CACNA1C):c.4074+14A>G
|
rs371806132
|
0.00092
|
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)
|
rs201210997
|
0.00092
|
NM_017837.4(PIGV):c.*149G>A
|
rs3754360
|
0.00091
|
NM_025074.7(FRAS1):c.3010+14_3010+29del
|
rs112289727
|
0.00091
|
NM_000243.3(MEFV):c.37C>G (p.Leu13Val)
|
rs139448379
|
0.00090
|
NM_004281.4(BAG3):c.1503C>A (p.Val501=)
|
rs147277075
|
0.00089
|
NM_021098.3(CACNA1H):c.5173+18C>T
|
rs373269618
|
0.00089
|
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr)
|
rs75123867
|
0.00089
|
NM_000169.3(GLA):c.639+18G>A
|
rs189319122
|
0.00087
|
NM_002880.4(RAF1):c.581+4A>G
|
rs201776526
|
0.00087
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys)
|
rs56255799
|
0.00086
|
NM_144773.4(PROKR2):c.1122C>A (p.Thr374=)
|
rs76469093
|
0.00085
|
NM_001291303.3(FAT4):c.2919C>T (p.Val973=)
|
rs144356360
|
0.00083
|
NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser)
|
rs146614981
|
0.00083
|
NM_002335.4(LRP5):c.2544G>A (p.Pro848=)
|
rs148271293
|
0.00083
|
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=)
|
rs57260464
|
0.00083
|
NM_004523.4(KIF11):c.2153A>T (p.His718Leu)
|
rs116942055
|
0.00082
|
NM_020041.3(SLC2A9):c.351C>T (p.Phe117=)
|
rs148002726
|
0.00082
|
NM_001288705.3(CSF1R):c.192C>T (p.Gly64=)
|
rs56282370
|
0.00081
|
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=)
|
rs142921504
|
0.00080
|
NM_006904.7(PRKDC):c.11076G>A (p.Val3692=)
|
rs8178235
|
0.00078
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
NM_014714.4(IFT140):c.1083C>T (p.Pro361=)
|
rs143014223
|
0.00077
|
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=)
|
rs149860242
|
0.00076
|
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988
|
0.00075
|
NM_004998.4(MYO1E):c.2627+8C>T
|
rs12232341
|
0.00074
|
NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu)
|
rs141303384
|
0.00073
|
NM_014425.5(INVS):c.1704G>A (p.Gly568=)
|
rs114645869
|
0.00073
|
NM_016335.6(PRODH):c.1252-14C>T
|
rs189009057
|
0.00073
|
NM_001807.6(CEL):c.1485-8C>T
|
rs185188893
|
0.00072
|
NM_001046.3(SLC12A2):c.2005+9T>C
|
rs10463502
|
0.00071
|
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile)
|
rs189149543
|
0.00070
|
NM_001753.5(CAV1):c.30+20C>T
|
rs34592877
|
0.00070
|
NM_014956.5(CEP164):c.194+20G>A
|
rs184566454
|
0.00070
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989
|
0.00069
|
NM_004795.4(KL):c.2688C>T (p.Asn896=)
|
rs145682430
|
0.00067
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=)
|
rs556682082
|
0.00065
|
NM_002067.5(GNA11):c.885C>T (p.Phe295=)
|
rs147368872
|
0.00065
|
NM_014994.3(MAPKBP1):c.4030G>T (p.Gly1344Cys)
|
rs75437827
|
0.00065
|
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)
|
rs75621037
|
0.00065
|
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=)
|
rs144776083
|
0.00065
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln)
|
rs184878358
|
0.00060
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
0.00059
|
NM_019109.5(ALG1):c.902-20G>A
|
rs74249172
|
0.00059
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser)
|
rs146443503
|
0.00056
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)
|
rs147904018
|
0.00054
|
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met)
|
rs75134564
|
0.00053
|
NM_015158.5(KANK1):c.3870C>T (p.Pro1290=)
|
rs115758363
|
0.00053
|
NM_021098.3(CACNA1H):c.3970-6C>T
|
rs200403676
|
0.00053
|
NM_032888.4(COL27A1):c.4066G>C (p.Asp1356His)
|
rs149434700
|
0.00053
|
NM_002334.4(LRP4):c.2506+17C>T
|
rs376349760
|
0.00052
|
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln)
|
rs1799912
|
0.00052
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=)
|
rs150756913
|
0.00051
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_001102564.3(IFT43):c.486G>A (p.Ala162=)
|
rs143729954
|
0.00049
|
NM_004006.3(DMD):c.2381-3T>C
|
rs147931243
|
0.00048
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00045
|
NM_001382347.1(MYO5A):c.5020C>A (p.Arg1674=)
|
rs2290333
|
0.00045
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_001399.5(EDA):c.1001G>A (p.Arg334His)
|
rs142948132
|
0.00042
|
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe)
|
rs180834558
|
0.00041
|
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)
|
rs147302249
|
0.00041
|
NM_057176.3(BSND):c.597T>C (p.Asp199=)
|
rs200886926
|
0.00040
|
NM_015512.5(DNAH1):c.10080G>C (p.Gln3360His)
|
rs116930509
|
0.00038
|
NM_003361.4(UMOD):c.1500A>G (p.Ala500=)
|
rs200895986
|
0.00037
|
NM_014797.3(ZBTB24):c.14C>T (p.Ser5Leu)
|
rs192918926
|
0.00037
|
NM_000186.4(CFH):c.3133+8G>T
|
rs142718541
|
0.00036
|
NM_001844.5(COL2A1):c.870+11C>T
|
rs191695664
|
0.00036
|
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=)
|
rs140651265
|
0.00036
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
NM_207034.3(EDN3):c.426G>A (p.Ala142=)
|
rs187049336
|
0.00035
|
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)
|
rs34153370
|
0.00034
|
NM_004525.3(LRP2):c.2511C>T (p.Ala837=)
|
rs375313914
|
0.00034
|
NM_030943.4(AMN):c.321T>C (p.Ser107=)
|
rs563004567
|
0.00034
|
NM_001375405.1(CEP120):c.1431-11_1431-9del
|
rs776090638
|
0.00033
|
NM_001458.5(FLNC):c.3964+9C>T
|
rs200448727
|
0.00033
|
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys)
|
rs199933282
|
0.00032
|
NM_001288705.3(CSF1R):c.1510+16C>T
|
rs200626267
|
0.00031
|
NM_001384732.1(CPLANE1):c.5820+7C>T
|
rs185534019
|
0.00031
|
NM_001018005.2(TPM1):c.563+313A>G
|
rs144700226
|
0.00029
|
NM_001366722.1(GRIP1):c.1199-7C>G
|
rs200313638
|
0.00029
|
NM_015512.5(DNAH1):c.3836A>G (p.Lys1279Arg)
|
rs142595873
|
0.00029
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)
|
rs200474791
|
0.00026
|
NM_004369.4(COL6A3):c.6592-16A>T
|
rs181698279
|
0.00026
|
NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr)
|
rs146063259
|
0.00026
|
NM_017947.4(MOCOS):c.363G>A (p.Thr121=)
|
rs376254012
|
0.00026
|
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp)
|
rs145069572
|
0.00025
|
NM_006514.4(SCN10A):c.5047C>T (p.Pro1683Ser)
|
rs146999807
|
0.00025
|
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr)
|
rs151250620
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)
|
rs139590716
|
0.00021
|
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=)
|
rs556575921
|
0.00020
|
NM_004946.3(DOCK2):c.264A>G (p.Ala88=)
|
rs201493926
|
0.00020
|
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)
|
rs376838860
|
0.00019
|
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
|
rs372882189
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)
|
rs200534989
|
0.00016
|
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala)
|
rs200002693
|
0.00016
|
NM_004924.6(ACTN4):c.894C>T (p.Tyr298=)
|
rs568574676
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=)
|
rs144885184
|
0.00016
|
NM_001288705.3(CSF1R):c.1929C>T (p.His643=)
|
rs184499252
|
0.00015
|
NM_001963.6(EGF):c.1066+10G>C
|
rs76435576
|
0.00015
|
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=)
|
rs199988586
|
0.00014
|
NM_001080512.3(BICC1):c.1038A>G (p.Gln346=)
|
rs200603263
|
0.00014
|
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn)
|
rs199720383
|
0.00014
|
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)
|
rs200214562
|
0.00014
|
NM_003361.4(UMOD):c.973+7C>T
|
rs557659943
|
0.00014
|
NM_005120.3(MED12):c.5805C>T (p.Ser1935=)
|
rs201608537
|
0.00013
|
NM_198253.3(TERT):c.2383-15C>T
|
rs574645600
|
0.00013
|
NM_001085487.3(MYSM1):c.2031+8A>G
|
rs201679870
|
0.00012
|
NM_004070.4(CLCNKA):c.867-8C>T
|
rs200325856
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_144997.7(FLCN):c.1538+10A>C
|
rs12451312
|
0.00010
|
NM_001127898.4(CLCN5):c.315+12G>A
|
rs781796383
|
0.00009
|
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=)
|
rs568667163
|
0.00009
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00008
|
NM_000064.4(C3):c.2951-5T>C
|
rs375107570
|
0.00007
|
NM_001080508.3(TBX18):c.868G>A (p.Gly290Arg)
|
rs200742037
|
0.00007
|
NM_001102564.3(IFT43):c.55-17T>C
|
rs200685248
|
0.00006
|
NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=)
|
rs183128734
|
0.00006
|
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=)
|
rs539749063
|
0.00006
|
NM_004415.4(DSP):c.4320G>A (p.Val1440=)
|
rs571103583
|
0.00006
|
NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys)
|
rs146785679
|
0.00005
|
NM_000377.3(WAS):c.941C>T (p.Pro314Leu)
|
rs782752881
|
0.00005
|
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)
|
rs142211875
|
0.00005
|
NM_000093.5(COL5A1):c.12T>C (p.His4=)
|
rs368818087
|
0.00004
|
NM_000133.4(F9):c.658T>A (p.Ser220Thr)
|
rs777361659
|
0.00004
|
NM_000142.5(FGFR3):c.1960-7C>T
|
rs779177992
|
0.00004
|
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=)
|
rs758374702
|
0.00004
|
NM_000718.4(CACNA1B):c.3673A>G (p.Ile1225Val)
|
rs200164302
|
0.00004
|
NM_000901.5(NR3C2):c.405G>C (p.Gln135His)
|
rs138893620
|
0.00004
|
NM_001079.4(ZAP70):c.732C>T (p.Asp244=)
|
rs201683657
|
0.00004
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00004
|
NM_001715.3(BLK):c.672C>T (p.Ala224=)
|
rs201252364
|
0.00004
|
NM_001750.7(CAST):c.1441G>A (p.Ala481Thr)
|
rs546937644
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=)
|
rs541077303
|
0.00004
|
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=)
|
rs200349242
|
0.00004
|
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp)
|
rs200745301
|
0.00004
|
NM_001174147.2(LMX1B):c.552C>T (p.Ser184=)
|
rs142488434
|
0.00003
|
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)
|
rs576260502
|
0.00002
|
NM_000214.3(JAG1):c.388-4G>C
|
rs567027490
|
0.00002
|
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=)
|
rs143404578
|
0.00002
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_001457.4(FLNB):c.2523T>G (p.Pro841=)
|
rs376893941
|
0.00002
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)
|
rs554647169
|
0.00002
|
NM_000214.3(JAG1):c.2559C>T (p.Ala853=)
|
rs201234393
|
0.00001
|
NM_000276.4(OCRL):c.2582-9G>A
|
rs2071705
|
0.00001
|
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=)
|
rs547347545
|
0.00001
|
NM_001267550.2(TTN):c.67637-9A>G
|
rs2047164551
|
0.00001
|
NM_002471.4(MYH6):c.4960-9G>A
|
rs557113705
|
0.00001
|
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=)
|
rs202219455
|
0.00001
|
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)
|
rs773224811
|
0.00001
|
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln)
|
rs750579766
|
0.00001
|
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn)
|
rs569721834
|
0.00001
|
NM_020975.6(RET):c.2268C>T (p.Ala756=)
|
rs370791179
|
0.00001
|
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=)
|
rs202118149
|
0.00001
|
NM_024740.2(ALG9):c.132-14T>G
|
rs782251612
|
0.00001
|
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg)
|
rs372889859
|
0.00001
|
NM_000019.4(ACAT1):c.239-8del
|
rs201199156
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000044.6(AR):c.171GCA[22] (p.Gln80del)
|
rs3032358
|
|
NM_000049.4(ASPA):c.693C>T (p.Tyr231=)
|
rs12948217
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
NM_000073.3(CD3G):c.390_391delinsCT (p.Val131Phe)
|
rs71469175
|
|
NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=)
|
rs6698427
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000125.4(ESR1):c.30T>C (p.Ser10=)
|
rs2077647
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000186.4(CFH):c.245-10_245-9dup
|
rs35507625
|
|
NM_000187.4(HGD):c.343-11G>A
|
rs143223637
|
|
NM_000194.3(HPRT1):c.319-7dup
|
rs371480320
|
|
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)
|
rs11592273
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000210.4(ITGA6):c.2245-3del
|
rs746830225
|
|
NM_000244.4(MEN1):c.-35A>T
|
rs679946
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu)
|
rs529945469
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000368.5(TSC1):c.2626-5_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4dup
|
rs5901000
|
|
NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup)
|
rs776920005
|
|
NM_000423.3(KRT2):c.303_304insGGC (p.Ser101_Phe102insGly)
|
rs56850150
|
|
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
|
rs35065563
|
|
NM_000488.4(SERPINC1):c.409-12dup
|
rs201656611
|
|
NM_000492.4(CFTR):c.*133del
|
rs145697705
|
|
NM_000492.4(CFTR):c.1210-34TG[12]
|
rs3832534
|
|
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)
|
rs61752786
|
|
NM_000497.4(CYP11B1):c.799+17G>A
|
rs61751156
|
|
NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr)
|
rs34398255
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000562.3(C8A):c.107C>A (p.Ala36Glu)
|
rs116201358
|
|
NM_000785.4(CYP27B1):c.386+14G>T
|
rs373607899
|
|
NM_000987.5(RPL26):c.-5-16_-5-15del
|
rs533883480
|
|
NM_001009944.3(PKD1):c.11412-7C>T
|
rs553377243
|
|
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val)
|
rs375440448
|
|
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=)
|
rs573611925
|
|
NM_001018115.3(FANCD2):c.378-6_378-5del
|
rs55973240
|
|
NM_001022.4(RPS19):c.356+18G>C
|
rs61762294
|
|
NM_001029.5(RPS26):c.-22C>G
|
rs1131017
|
|
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp)
|
rs55797039
|
|
NM_001039348.3(EFEMP1):c.1000+19del
|
rs56280335
|
|
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=)
|
rs148484744
|
|
NM_001041.4(SI):c.2244+14G>A
|
rs114458546
|
|
NM_001041.4(SI):c.5198-20dup
|
rs566002300
|
|
NM_001041.4(SI):c.636-22_636-19del
|
rs558953371
|
|
NM_001042681.2(RERE):c.3556AAGGAG[4] (p.1186KE[4])
|
rs147985313
|
|
NM_001080449.3(DNA2):c.1057+19del
|
rs34922453
|
|
NM_001080449.3(DNA2):c.2697+13del
|
rs370068890
|
|
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile)
|
rs74116778
|
|
NM_001104631.2(PDE4D):c.455+306662_455+306663dup
|
|
|
NM_001110219.3(GJB6):c.*227dup
|
rs368264636
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9])
|
rs759134767
|
|
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)
|
rs16054
|
|
NM_001127671.2(LIFR):c.143-37GT[16]
|
rs10637374
|
|
NM_001130823.3(DNMT1):c.1044-8del
|
rs59599980
|
|
NM_001144967.3(NEDD4L):c.2488-8del
|
rs751368482
|
|
NM_001165963.4(SCN1A):c.2177-11dup
|
rs11394960
|
|
NM_001177316.2(SLC34A3):c.1210+17G>A
|
rs202071967
|
|
NM_001232.4(CASQ2):c.738-27dup
|
rs56889721
|
|
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro)
|
rs138944426
|
|
NM_001256007.3(PNPLA8):c.1626-15del
|
rs3214243
|
|
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)
|
rs74315379
|
|
NM_001291867.2(NHS):c.566-10dup
|
rs5901624
|
|
NM_001354768.3(NRL):c.-28+11215dup
|
rs61497654
|
|
NM_001365276.2(TNXB):c.2516-17_2516-15del
|
rs199775035
|
|
NM_001366385.1(CARD14):c.2219+14T>G
|
rs8069255
|
|
NM_001366722.1(GRIP1):c.418+14C>A
|
rs79994510
|
|
NM_001371333.1(DIABLO):c.51-318dup
|
rs5801478
|
|
NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp)
|
rs3135506
|
|
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT
|
rs3834451
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG
|
rs1064795877
|
|
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=)
|
rs77517267
|
|
NM_001378457.1(DMXL2):c.6833+11del
|
rs11291027
|
|
NM_001379500.1(COL18A1):c.2824_2838del (p.Gly942_Pro946del)
|
|
|
NM_001384732.1(CPLANE1):c.2746+16del
|
rs751625561
|
|
NM_001448.3(GPC4):c.320-15del
|
rs57898529
|
|
NM_001614.5(ACTG1):c.-55G>A
|
rs7503278
|
|
NM_001715.3(BLK):c.39G>A (p.Lys13=)
|
rs142129056
|
|
NM_001807.6(CEL):c.1659C>G (p.Thr553=)
|
rs78256304
|
|
NM_001852.4(COL9A2):c.1604-26CTCC[7]
|
rs3831927
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001957.4(EDNRA):c.748-19_748-18insCT
|
rs71594223
|
|
NM_001999.4(FBN2):c.3848-10G>T
|
rs140017238
|
|
NM_002160.4(TNC):c.6099C>T (p.Arg2033=)
|
rs58547879
|
|
NM_002249.6(KCNN3):c.200AGC[19] (p.Gln76_Gln80dup)
|
rs3831942
|
|
NM_002292.4(LAMB2):c.261G>A (p.Lys87=)
|
rs149408554
|
|
NM_002292.4(LAMB2):c.4224+19G>A
|
rs114913744
|
|
NM_002294.3(LAMP2):c.*1243A>G
|
rs147825361
|
|
NM_002340.6(LSS):c.181-27dup
|
rs10550493
|
|
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=)
|
rs2285475
|
|
NM_002585.4(PBX1):c.266-15_266-14insTT
|
rs139680846
|
|
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
|
rs142272618
|
|
NM_002838.5(PTPRC):c.2848-4del
|
rs57296163
|
|
NM_002838.5(PTPRC):c.2848-5_2848-4del
|
rs57296163
|
|
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)
|
rs113614842
|
|
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del)
|
rs113070757
|
|
NM_003126.4(SPTA1):c.6789-8del
|
rs5778083
|
|
NM_003238.6(TGFB2):c.510+12TTG[13]
|
rs10482769
|
|
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe)
|
rs3775291
|
|
NM_003470.3(USP7):c.3202+20dup
|
rs3214650
|
|
NM_003849.4(SUCLG1):c.98-13_98-11del
|
rs56733272
|
|
NM_004130.4(GYG1):c.452A>T (p.His151Leu)
|
rs35054019
|
|
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)
|
rs141979823
|
|
NM_004456.5(EZH2):c.118-4del
|
rs3214332
|
|
NM_004525.3(LRP2):c.11498-13del
|
rs143342962
|
|
NM_004525.3(LRP2):c.13519-40CT[12]
|
rs138614485
|
|
NM_004525.3(LRP2):c.13519-40CT[13]
|
rs138614485
|
|
NM_004525.3(LRP2):c.428-11_428-8del
|
rs370823033
|
|
NM_004525.3(LRP2):c.428-9_428-8del
|
rs370823033
|
|
NM_004544.4(NDUFA10):c.1000-5del
|
rs138479490
|
|
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu)
|
rs1801582
|
|
NM_004562.3(PRKN):c.172-38dup
|
rs751742289
|
|
NM_004621.6(TRPC6):c.2645-22_2645-20del
|
rs59743346
|
|
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)
|
rs143092783
|
|
NM_004736.4(XPR1):c.1135-8dup
|
rs113553362
|
|
NM_004960.4(FUS):c.518_523del
|
|
|
NM_004999.4(MYO6):c.1546+7_1546+8del
|
rs3831003
|
|
NM_005006.7(NDUFS1):c.154-33dup
|
rs568965659
|
|
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met)
|
rs368722127
|
|
NM_005045.4(RELN):c.5211-7del
|
rs34125550
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
NM_005219.5(DIAPH1):c.3149-25dup
|
rs79558427
|
|
NM_005219.5(DIAPH1):c.3149-3del
|
rs79558427
|
|
NM_005235.3(ERBB4):c.1947-28dup
|
rs57466272
|
|
NM_005263.5(GFI1):c.925-40CT[21]
|
rs35896485
|
|
NM_005391.5(PDK3):c.249-9dup
|
rs374771377
|
|
NM_005502.4(ABCA1):c.5383-20_5383-18dup
|
rs77663187
|
|
NM_005619.5(RTN2):c.-170GGC[16]
|
rs3038807
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)
|
rs543634397
|
|
NM_006231.4(POLE):c.2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.4552-10G>T
|
rs5744946
|
|
NM_006265.3(RAD21):c.815-5del
|
rs35902828
|
|
NM_006306.4(SMC1A):c.616-6G>A
|
rs587784424
|
|
NM_006346.4(PIBF1):c.1223+15dup
|
rs200683940
|
|
NM_006348.5(COG5):c.1750-3dup
|
rs746706902
|
|
NM_006348.5(COG5):c.538+6dup
|
rs201626701
|
|
NM_006440.5(TXNRD2):c.763G>C (p.Gly255Arg)
|
rs76079250
|
|
NM_006440.5(TXNRD2):c.949+437del
|
rs35599379
|
|
NM_006580.4(CLDN16):c.-45del
|
rs368234054
|
|
NM_007214.5(SEC63):c.1210-18dup
|
rs370485907
|
|
NM_007215.4(POLG2):c.1191+6dup
|
rs60611997
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.441+36_441+49del
|
rs373413425
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_014314.4(RIGI):c.1481-21dup
|
rs71504272
|
|
NM_014423.4(AFF4):c.963+12dup
|
rs56817345
|
|
NM_014822.4(SEC24D):c.1422-9dup
|
rs71595318
|
|
NM_015278.5(SASH1):c.45CGAGCC[3] (p.12EP[7])
|
rs76317765
|
|
NM_016103.4(SAR1B):c.480+18del
|
rs199526981
|
|
NM_016335.6(PRODH):c.1623C>G (p.Ala541=)
|
rs16983347
|
|
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)
|
rs11545029
|
|
NM_017570.5(OPLAH):c.3721-11dup
|
rs782568024
|
|
NM_018060.4(IARS2):c.268-8del
|
rs376359534
|
|
NM_018062.4(FANCL):c.273+19dup
|
rs372101290
|
|
NM_018076.5(ODAD2):c.383-6del
|
rs10599433
|
|
NM_018082.6(POLR3B):c.1102-3dup
|
rs202125845
|
|
NM_018082.6(POLR3B):c.1102-4_1102-3dup
|
rs202125845
|
|
NM_018082.6(POLR3B):c.72+184_72+188del
|
rs139244819
|
|
NM_018127.7(ELAC2):c.1305-8delinsCTCTC
|
rs1064794813
|
|
NM_018417.6(ADCY10):c.254-6del
|
rs746507234
|
|
NM_018486.3(HDAC8):c.112-29dup
|
rs3830710
|
|
NM_019109.5(ALG1):c.390+13C>T
|
rs62036244
|
|
NM_020041.3(SLC2A9):c.1420-19del
|
rs376925476
|
|
NM_020638.3(FGF23):c.555G>C (p.Ser185=)
|
rs115283398
|
|
NM_020771.4(HACE1):c.2443-5_2443-3del
|
rs72218235
|
|
NM_021098.3(CACNA1H):c.299+15C>G
|
rs553478910
|
|
NM_021098.3(CACNA1H):c.4038+15G>T
|
rs375169106
|
|
NM_021911.3(GABRB2):c.-152-8del
|
rs56867928
|
|
NM_021939.4(FKBP10):c.1256+17dup
|
rs55720039
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=)
|
rs4021006
|
|
NM_024496.4(IRF2BPL):c.342_344del (p.Gln127del)
|
rs773628724
|
|
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)
|
rs75254367
|
|
NM_024757.5(EHMT1):c.3541-13TC[3]
|
rs10667884
|
|
NM_024989.4(PGAP1):c.1273-17dup
|
rs3835877
|
|
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)
|
rs78870822
|
|
NM_025137.4(SPG11):c.2445-32dup
|
rs374899647
|
|
NM_030667.3(PTPRO):c.2997+18del
|
rs751345733
|
|
NM_030667.3(PTPRO):c.3222C>T (p.Asp1074=)
|
rs144347297
|
|
NM_032193.4(RNASEH2C):c.*948dup
|
rs142614068
|
|
NM_032801.5(JAM3):c.410-14_410-13insCTT
|
rs3216140
|
|
NM_032888.4(COL27A1):c.3758G>A (p.Arg1253His)
|
rs200928771
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met)
|
rs3746803
|
|
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln)
|
rs34740537
|
|
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2])
|
rs772506311
|
|
NM_058172.6(ANTXR2):c.637-10del
|
rs373672335
|
|
NM_079420.3(MYL1):c.1dup (p.Met1fs)
|
rs544557603
|
|
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
|
rs573293029
|
|
NM_139276.3(STAT3):c.1601-10dup
|
rs3830585
|
|
NM_144997.7(FLCN):c.75G>A (p.Leu25=)
|
rs200350612
|
|
NM_152416.4(NDUFAF6):c.420+15dup
|
rs34960210
|
|
NM_153603.4(COG7):c.366C>T (p.Ala122=)
|
rs74012178
|
|
NM_153717.3(EVC):c.802-12_802-11del
|
rs372546602
|
|
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=)
|
rs140766323
|
|
NM_172362.3(KCNH1):c.80-6del
|
rs56223346
|
|
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
|
|
|
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
|
|
|
NM_178170.3(NEK8):c.1732+8_1732+10del
|
rs3833163
|
|
NM_181507.2(HPS5):c.1324-32dup
|
rs369116404
|
|
NM_181741.4(ORC4):c.763-9del
|
rs66919703
|
|
NM_182914.3(SYNE2):c.2647-4_2647-3dup
|
rs397726340
|
|
NM_198578.4(LRRK2):c.3497-8del
|
rs201739149
|
|
NM_198578.4(LRRK2):c.6844-8dup
|
rs72546334
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_207361.6(FREM2):c.7520-6_7520-5dup
|
rs36084034
|
|
NM_212482.4(FN1):c.1942-38GT[12]
|
rs5838511
|
|
NM_213595.4(ISCU):c.19_20delinsGG (p.Phe7Gly)
|
rs67681514
|
|